allergic contact dermatitis

An inflammatory skin condition caused by an immune response to direct contact between the skin and an allergen. It consists of a delayed type of allergic reaction at the affected site with resulting red, swollen, and blistered skin that may itch or leak.


streptococcus pneumoniae-associated hemolytic uremic syndrome

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X-linked hydrocephalus with stenosis of the aqueduct of Sylvius

A form of L1 syndrome caused by changes in the L1CAM gene characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.


Kunjin virus infectous disease

A West Nile encephalitis that results in infection located in brain, has material basis in Kunjin virus, a subtype of West Nile Virus, which is transmitted by Culex annulirostris mosquito bite. The infection has symptom fever, has symptom rigor, has symptom headache, has symptom confusion, and has symptom lethargy.


Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal.


ectasia of the left appendage

Ectasia of the left atrial appendage is a rare cardiac malformation characterized by the enlargement of the left auricle without any other associated cardiac lesions. It can be asymptomatic (discovered fortuitously during routine chest imaging as an unusual cardiac shadow) or present clinically with supraventricular tachyarrhythmia, paroxysmal tachycardia, embolic events, respiratory distress, chest pain, angina pectoris or heart failure.


Adams-Oliver syndrome

Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.


acquired aplastic anemia

An instance of aplastic anemia that is acquired during the lifetime of the individual.


Fuhrmann syndrome

Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly.


HTRA1-related autosomal dominant cerebral small vessel disease


ELOVL4-related maculopathy

Any maculopathy caused by a variant in the ELOVL4 gene.


autoimmune disorder of blood

A hypersensitivity reaction type II disease that involves the blood.


vision disorder

Any impairment to the vision.


constitutional megaloblastic anemia with severe neurologic disease


partial deletion of the long arm of chromosome 12


mechanical ectropion

An ectropion with a mechanical etiology.


undifferentiated high grade pleomorphic sarcoma of bone

A rare, high-grade pleomorphic malignant neoplasm arising from the bone. It usually presents with pain which may or may not be associated with swelling in the affected area. It is characterized by the presence of spindle-shaped cells, polygonal or epithelioid cells, multinucleated giant cells, and inflammatory cells. The neoplastic cells exhibit nuclear pleomorphism and high mitotic activity. It metastasizes frequently, most often in the lungs.


hennekam lymphangiectasia-lymphedema syndrome 3


paroxysmal nocturnal hemoglobinuria 2

Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGT gene.


retinitis pigmentosa 35

Any retinitis pigmentosa in which the cause of the disease is a mutation in the SEMA4A gene.


brachydactyly, type E, with atrial septal defect, type 2


seizures, benign familial neonatal, autosomal recessive


inborn disorder of the metabolism of sulfur-containing amino acids and hydrogen sulfide

A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of sulfur-containing amino acids and/or hydrogen sulfide.


peroxisome biogenesis disorder due to PEX6 defect

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX6 gene.


radioulnar synostosis with amegakaryocytic thrombocytopenia 2

Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the MECOM gene.


diffuse palmoplantar keratoderma with painful fissures


dendritic cell deficiency

A primary immunodeficiency disease characterized by impaired function or reduced numbers of dendritic cells.


ABetaL34V amyloidosis

Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline.


progressive dementia with neuroserpin inclusion bodies


refractive error

A defect in the focusing of light on the retina as in astigmatism, myopia, or hyperopia.


spinocerebellar ataxia type 2

A subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.


Bardet-Biedl syndrome 17

Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the LZTFL1 gene.


Craniosynostosis-fibular aplasia is an extremely rare genetic disease, reported in only 2 brothers to date, characterized by the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal and an autosomal recessive mode of inheritance has been proposed. There have been no further reports in the literature since 1972.


intellectual disability, X-linked 21

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the IL1RAPL1 gene.


autosomal recessive spastic paraplegia type 67

Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities.


sickle cell-hemoglobin c disease syndrome

A rare, genetic hemoglobinopathy characterized by anemia, reticulocytosis and erythrocyte abnormalities including target cells, irreversibly sickled cells and crystal-containing cells. Clinical course is similar to sickle cell disease, but less severe and with less complications. Signs and symptoms may include acute episodes of pain, splenic infarction and splenic sequestration crisis, acute chest syndrome, focal segmental glomerulosclerosis, ischemic brain injury, peripheral retinopathy, and osteonecrosis.


atypical progressive supranuclear palsy syndrome

Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA).


kidney osteogenic sarcoma

An osteosarcoma arising from the kidney.


nodular fasciitis

A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity.


metaphyseal chondrodysplasia-retinitis pigmentosa syndrome


visual pathway disorder

A disorder of the neural pathway from the optic nerve to the visual cortex.


BEST1-related recessive retinopathy

Any retinopathy caused by bi-allelic variants in the BEST1 gene.


anatomical narrow angle borderline glaucoma


autosomal dominant palmoplantar keratoderma and congenital alopecia

Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.


Coffin-Siris syndrome 8

Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCC2 gene.


atrial fibrillation, familial, 13

Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN1B gene.


developmental and epileptic encephalopathy, 46

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2D gene.


metabolic disease involving other neurotransmitter deficiency


combined oxidative phosphorylation deficiency 40


congenital pulmonary valve stenosis

Congenital pulmonary stenosis (PS) is a congenital heart malformation that is characterized by a right ventricular outflow obstruction with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction in PS can be at the valvular, subpulmonary, or supravalvular levels (valvular, subpulmonary, supravalvular PS).


succinyl-CoA:3-ketoacid CoA transferase deficiency

Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis.


familial multiple fibrofolliculoma

Familial multiple fibrofolliculoma is a genodermatosis characterized by the presence of multiple hamartomas of the hair follicle. It has been described in one family so far.


Norrie disease

A rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.


hypomagnesemia, seizures, and intellectual disability


acute thyroiditis

Acute form of thyroiditis (disease).


cheirospondyloenchondromatosis

Cheirospondyloenchondromatosis is an extremely rare type of enchondromatosis of very early onset (from neonatal period to infancy) characterized by symmetrical multiple enchondromas with metacarpal and phalangeal involvement resulting in short hands and feet, platyspondyly, mild to moderate short stature and intellectual disability.


epithelioid cell melanoma

A melanoma characterized by the presence of malignant large epithelioid melanocytes.


dystonia 24

Any dystonic disorder in which the cause of the disease is a mutation in the ANO3 gene.


mast cell sarcoma

A rare entity characterized by localized but destructive growth of a tumor consisting of highly atypical, immature mast cells.(WHO, 2001)


Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterized by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families.


visual snow syndrome

Visual snow syndrome is described as a persistent visual problem characterized by seeing snow-like dots. Migraines are a common symptom. Many people also see drifting blobs of varying size and shape (floaters), visual effects (entopic phenomenon), glare, halos, starbursts, trails, odd colors and shapes, and may have persistent recurrence of a visual image (palinopsia) and double vision. Additional symptoms may include fatigue, tinnitus, or depersonalization and depression. Most people have normal vision tests and normal brain images. Standard migraine treatments are often not helpful. There is no cure or effective treatment to completely relieve the symptoms, but medication seems to help some people with visual snow.


oocyte/zygote/embryo maturation arrest 19


congenital primary megaureter, nonrefluxing and unobstructed form


Bardet-Biedl syndrome 9

Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS9 gene.


spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome

A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.


familial benign flecked retina

Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits.


mucosulfatidosis

Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.


intellectual disability, autosomal dominant 56


chronic salpingo-oophoritis

Chronic form of salpingo-oophoritis.


benign neoplasm of peripheral nervous system


deep leiomyoma

A rare benign smooth muscle neoplasm arising from deep tissue. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


mononeuritis of lower limb

A mononeuritis simplex that involves the hindlimb.


rhizomelic dysplasia, Patterson-Lowry type

Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia.


Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type.


adult Refsum disease

A very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.


isolated anhidrosis with normal sweat glands

Any anhidrosis in which the cause of the disease is a mutation in the ITPR2 gene.


congenital herpes virus infection

An infectious embryofetopathy caused by infection with Herpesviridae.


low grade central osteosarcoma

A low grade osteosarcoma arising from the medullary portion of the bone. It affects the long bones and is characterized by the presence of fibroblastic stroma and osteoid production. Pain and swelling are the usual sign and symptom. The prognosis is more favorable than conventional osteosarcoma.


spastic ataxia 5

Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated.


inborn carbohydrate metabolic disorder

An inherited metabolic disease that is has its basis in the disruption of carbohydrate metabolic process.


ichthyosis, congenital, autosomal recessive 12

Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CASP14 gene.


diffuse palmoplantar keratoderma - acrocyanosis syndrome

Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterized by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant.


lymph node disorder

Any disorder of the lymph nodes.


disorder of uterine broad ligament

A disease or disorder that involves the broad ligament of uterus.


short stature, Brussels type

This syndrome is characterized by short stature presenting in the neonatal period associated with osteochondrodysplastic lesions and facial dysmorphism.


benign neoplasm of ciliary body

A benign neoplasm that involves the ciliary body.


autosomal recessive spinocerebellar ataxia 2

The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.


autosomal recessive nonsyndromic hearing loss 66

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the DCDC2 gene.


silver-Russell syndrome due to 7p11.2p13 microduplication


ABeta amyloidosis, dutch type

Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA, a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia.


retinitis pigmentosa 94, variable age at onset


criss-cross heart

Criss cross heart (CCH) is a cardiac malformation where the inflow streams of the two ventricles cross due to twisting of the heart about its major axis. The clinical features depend on the particular cardiac defects associated, like simple or corrected transposition of the great arteries and ventricular septal defects.


spondyloepiphyseal dysplasia tarda

Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest.


intellectual disability, autosomal recessive 6

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIK2 gene.


short stature due to partial GHR deficiency

Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone.


fried syndrome

A rare X-linked syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies.


HSD10 disease, neonatal type

HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by onset of severe metabolic/lactic acidosis, neurological and psychomotor delay, seizures and severe progressive hypertrophic cardiomyopathy in the neonatal period. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life.


familial acanthosis nigricans

An instance of acanthosis nigricans (disease) that is caused by an inherited modification of the individual's genome.


coxsackievirus infectious disease

A heterogeneous group of infections produced by coxsackieviruses, including herpangina, aseptic meningitis (meningitis, aseptic), a common-cold-like syndrome, a non-paralytic poliomyelitis-like syndrome, epidemic pleurodynia (pleurodynia, epidemic) and a serious myocarditis.


cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome


ventricular tachycardia, catecholaminergic polymorphic 6


45,X/46,XY mixed gonadal dysgenesis

45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development.


Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the PIK3R2 gene.


familial chronic myelocytic leukemia-like syndrome

A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome).


hypogonadotropic hypogonadism 7 with or without anosmia

A hypogonadotropic hypogonadism that has material basis in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported.


Niemann-Pick disease type C, juvenile neurologic onset


Corticosteroid-binding globulin deficiency is a genetic disorder characterized by extreme tiredness (fatigue), particularly after physical exertion, and low blood pressure (hypotension). Corticosteroid-binding globulin (CBG) is a protein primarily produced in the liver that attaches to cortisol, a hormone with numerous functions, including maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation.When cortisol is needed in the body, CBG delivers the cortisol where it is needed and releases it. Signs and symptoms of CBG deficiency vary. While some individuals may experience no symptoms, others are found to have a fatty liver and chronic pain. Some people with CBG deficiency also have chronic fatigue syndrome. CGB deficiency is caused by mutations in the SERPINA6 gene. The SERPINA6 gene is commonly also referred to as the CBG gene. Both autosomal dominant and autosomal recessive inheritance have been reported.While there is still no cure, treatment options will depend on the type and severity of symptoms present and may involve several specialists.


partial duplication of the short arm of chromosome 11


atrial fibrillation, familial, 15

Any familial atrial fibrillation in which the cause of the disease is a mutation in the NUP155 gene.


linear lichen planus

Linear lichen planus (LLP), also referred to as Blaschkoid LP, is a rare type of lichen planus characterized by a linear distribution of lichenoid lesions along the lines of Blaschko, which are embryonic pathways of skin development.


mesenteric lymphadenitis due to Yersinia infection

An mesenteric lymphadenitis caused by infection with Yersinia pseudotuberculosis.


kaposiform lymphangiomatosis

A generalized lymphatic anomaly characterized by kaposiform spindled lymphatic endothelial cells.


retinitis pigmentosa 67

Any retinitis pigmentosa in which the cause of the disease is a mutation in the NEK2 gene.


short stature-pituitary and cerebellar defects-small sella turcica syndrome

Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterized by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25).


GM3 synthase deficiency

GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected infants become irritable and develop feeding difficulties and vomiting that prevent them from growing and gaining weight at the usual rate. Seizures begin within the first year of life and worsen over time. Multiple types of seizures are possible, including generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Some affected children also experience prolonged episodes of seizure activity called nonconvulsive status epilepticus. The seizures associated with GM3 synthase deficiency tend to be resistant (refractory) to treatment with antiseizure medications.


disorder of iron metabolism and transport


pigmented nodular adrenocortical disease, primary, 2

Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE11A gene.


X-linked intellectual disability with hypopituitarism

An X-linked intellectual disability in which the cause of the disease is a mutation in the SOX3 gene, with variable phenotypes including growth hormone deficiency due to hypopituitarism. It is undetermined if SOX3 is the only gene associated with this disease.


schizophrenia 11

A schizophrenia that has material basis in a mutation on chromosome 10q22.3.


intellectual disability, autosomal dominant 27


alopecia universalis onychodystrophy vitiligo

A syndrome characterized by total alopecia (hair loss), total vitíligo, and nail changes. The nail changes consist of fine pitting, associated with softness, and friability and may include horizontal splitting. The vitiligo is characterized by complete, rapid uniform loss of pigment which occurrs without going through a patchy state. The entire cutaneous surface is light and translucent-appearing and is prone to burning on exposure to the sun.


choroidal sclerosis

A neurodegenerative disease that involves the optic choroid.


intellectual disability, X-linked 46

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ARHGEF6 gene.


hereditary dementia

An instance of dementia that is caused by an inherited genomic modification in an individual.


SELENON-related myopathy

Myopathy caused by pathogenic variants in SELENON that is congenital or present early in childhood with neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, and significant respiratory involvement. Spinal rigidity of varying severity is often present.


paraurethral gland neoplasm

A neoplasm (disease) that involves the paraurethral gland.


Niemann-Pick disease type E

Niemann-Pick disease, type E is a poorly defined adult-onset and non-neuronopathic form of Niemann-Pick disease.


ciliary dyskinesia, primary, 47, and lissencephaly


congenital myasthenic syndrome 14

Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the ALG2 gene.


amphetamine abuse

Disorders related or resulting from use of amphetamines.


distal trisomy 22q

Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disabilty and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (incl. microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported.


episodic ataxia type 4

Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia.


ABetaA21G amyloidosis

Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients.


retinitis pigmentosa 34

A retinitis pigmentosa that has material basis in variation in the chromosome region Xq28.


platelet-type bleeding disorder 15

Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ACTN1 gene.


Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant.


microphthalmia-brain atrophy syndrome

Microphthalmia-brain atrophy (MOBA) syndrome is a rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter.


Behcet syndrome arthropathy

Arthropathy resulting from Behcet's syndrome.


epiglottis neoplasm

A benign or malignant neoplasm that affects the epiglottis.


X-linked disease

X-linked form of disease.


Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.


exostoses, multiple, type 1

Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene.


postoperative ventricular dysfunction

Postoperative ventricular dysfunction (VnD) occurs in 9-20% of coronary artery bypass graft (CABG) surgical patients and is associated with increased postoperative morbidity and mortality.


Huntington disease-like 3

Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy.


16p11.2p12.2 microduplication syndrome

16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behavior, behavioral problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described.


cortical dysplasia, complex, with other brain malformations 9


refractory precursor T-lymphoblastic lymphoma/leukemia

T-lymphoblastic leukemia/lymphoma resistant to treatment


epiphyseal dysplasia, multiple, 2

Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A2 gene.


Czech dysplasia, metatarsal type

Czech dysplasia, metatarsal type is a form of skeletal dysplasia characterized by severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes.


Osteoporosis-oculocutaneous hypopigmentation syndrome is characterized by osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive.


Aicardi-Goutieres syndrome 9

A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration. Patients present in infancy with irritability and spasticity. Brain imaging shows diffusely abnormal white matter, cerebral atrophy, and intracranial calcification. Premature death has been associated with renal and/or hepatic failure.


non-specific granulomatous orchitis

Granulomatous inflammation of the testis. It is characterized by the formation of granulomas around the seminiferous tubules. History of trauma may be present. It is assumed to be a reactive process due to autoimmune phenomena.


46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency.


syndromic microphthalmia

A microphthalmia that is part of a larger syndrome.


balloon cell malignant melanoma

A rare variant of melanoma with a vertical growth phase. It presents as a nodular or polypoid skin lesion. It is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm. The prognosis is similar to that of other melanomas matched for depth of invasion.


MAN1B1-congenital disorder of glycosylation

MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3).


fetal erythroblastosis

A disorder of the fetus or newborn that occurs when fetal cells that are coated with IgG alloantibodies from the mother attack antigens inherited from the father. Severity can range from absence of symptoms to death.


campomelia, Cumming type

Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies.


developmental and epileptic encephalopathy 97


primary immunodeficiency due to calcium channel deficiency

An immunodeficiency disease caused by a variation in the CRACR2A gene.


myopia 25, autosomal dominant

Any myopia (disease) in which the cause of the disease is a mutation in the P4HA2 gene.


spinocerebellar ataxia, autosomal recessive 33


anhidrosis, familial generalized, with abnormal or absent sweat glands


maxillary neoplasm

Cancer or tumors of the maxilla or upper jaw.


immature teratoma

A teratoma composed of immature, fetal-type tissues.


Alsing syndrome

An autosomal recessive, oculo-reno-skeletal syndrome characterized by bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic skeletal dysplasia of upper limbs with bilateral radiohumeral fusion.


laminopathy

A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina.


Carney-Stratakis syndrome

Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites.


autosomal dominant nonsyndromic hearing loss 11

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene.


partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome

A rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts.


partial duplication of the long arm of chromosome 2

Chromosome 2q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.


mitochondrial complex 1 deficiency, nuclear type 6


rippling muscle disease

A benign myopathy with symptoms and signs of muscular hyperexcitability. The typical finding is electrically silent muscle contractions provoked by mechanical stimuli and stretch


xeroderma pigmentosum group B

Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC3 gene.


epidermolysis bullosa simplex 1C, localized

A basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.


thyroid hormone resistance, generalized, autosomal dominant


ALG9-associated autosomal dominant polycystic kidney disease

Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the ALG9 gene.


ureteric orifice cancer

A malignant neoplasm involving the ureteral orifice.


Patterson-Stevenson-Fontaine syndrome

Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies.


rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies


leukorrhea

Whitish or yellowish mucosal vaginal discharge.


scrapie

A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called prions.


absent radius-anogenital anomalies syndrome

Absent radius-anogenital anomalies syndrome is a rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993.


atrioventricular node disorder

A disease involving the atrioventricular node.


pseudoleprechaunism syndrome, Patterson type

Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981.


desmoplastic nevus

A benign melanocytic nevus characterized by the presence of desmoplastic stroma.


TRPM1-related retinopathy

An inherited retinopathy caused by bi-allelic variants in the TRPM1 gene.


synostosis

A disease characterized by abnormal union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue.


testicular fibrothecoma

A rare testicular sex cord-stromal neoplasm characterized by mixed features of both fibroma and thecoma.


muscular dystrophy-white matter spongiosis syndrome


xeroderma pigmentosum variant type

Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer.


hypothyroidism, congenital, nongoitrous, 9


light chain deposition disease

Light chain deposition disease (LCDD) is a rare condition characterized by the deposition of specific proteins (monoclonal light chains) in the kidneys and other organs. Light chains are used to make antibodies that the body needs to fight infection. People with LCDD make too many light chains, which get deposited in many body tissues. While LCDD can occur in any organ, the kidneys are always involved. Signs and symptoms of LCDD may include protein in the urine ; decreased kidney function; and/or nephrotic syndrome. Rarely, a person with LCDD may have symptoms from cardiac (heart) or liver involvement. The underlying cause of LCDD is unknown. It is often associated with multiple myeloma. LCDD may progress to multiple myeloma, or it may be present with multiple myeloma when it is first diagnosed. The goal of treating LCDD is to slow the production of light chains and their damage to organs. Treatment may include chemotherapy with a drug called Bortezomib ; autologous stem cell transplantation ; immunomodulatory drugs; and/or kidney transplant. If untreated, end-stage renal disease occurs in 70% of cases.


osteoarthritis, toe

Osteoarthritis of the foot generally affects the joint at the base of your big toe. It can cause your toe to: - become stiff over time, which can make it difficult and painful to walk – this is called hallux rigidus - become bent, which can lead to painful bunions (bony lumps at the base of your big toe) – this is called hallux valgus. Osteoarthritis of the mid-foot is also quite common, especially in older people, and may cause an obvious bony swelling (osteophyte) on the top of your mid-foot. Ankle osteoarthritis is least common and may cause your heel to move to an unusual angle.


Kleefstra syndrome due to 9q34 microdeletion


ischio-vertebral syndrome

Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism.


early-onset familial hypoaldosteronism

A rare type of familial hypoaldosteronism characterized by early infantile onset of vomiting, diarrhea, severe dehydration, and failure to thrive. Analysis of plasma electrolytes shows hyponatremia, hyperkalemia, and acidosis. Plasma renin activity is elevated, and aldosterone levels are low.


complex cortical dysplasia with other brain malformations 4

Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBG1 gene.


metatropic dysplasia

Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.


autosomal dominant nonsyndromic hearing loss 48

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO1A gene.


mucopolysaccharidosis type 2, severe form

Mucopolysaccharidosis type 2 (MPS2), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.


generalized dominant dystrophic epidermolysis bullosa

Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails.


ALG2-congenital disorder of glycosylation

A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive.


spondyloepimetaphyseal dysplasia, Irapa type

A spondyloepimetaphyseal dysplasia is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.


acute myeloid leukemia, t(8;16)

Any acute myeloid leukemia that has the chromosomal anomaly t(8;16). (A cytogenetic abnormality that involves a translocation between chromosomes 8 and 16.)


vitelliform macular dystrophy 5

Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG2 gene.


ricin poisoning

A rare disorder due to poisoning characterized by acute onset of potentially life-threatening illness following ingestion, inhalation, or injection of ricin, a lectin present in the seeds of <i>Ricinus communis</i>, the castor oil plant. Clinical presentation depends on the route of administration, inhalation being the most toxic route, followed by oral ingestion. Presenting signs and symptoms include nausea, vomiting, diarrhea, hematemesis, and melena (upon ingestion), cough, wheezing, dyspnea, sore throat, and congestion (upon inhalation), and erythema, induration, blisters, capillary leak syndrome, and localized necrosis (upon injection). The condition can progress to seizures, shock, organ failure, pulmonary edema, and respiratory failure.


Batten-Turner congenital myopathy

A congenital myopathy in which a family of 6 siblings presented in infancy the picture of 'amyotonia congenita' and later in life a nonprogressive myopathy.


intellectual developmental disorder, autosomal recessive 70


setariasis

Infection with nematodes of the genus Setaria. This condition is usually seen in cattle and equines and is of little pathogenic significance, although migration of the worm to the eye may lead to blindness.


partial sensory epilepsy

A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. Partial seizures that feature alterations of consciousness are referred to as complex partial seizures (epilepsy, complex partial).


intellectual developmental disorder, autosomal dominant 64


Cowden syndrome 1

Any Cowden disease in which the cause of the disease is a mutation in the PTEN gene.


conventional fibrosarcoma

A malignant mesenchymal neoplasm composed of fibroblasts, and characterized by collagen production and usually a herringbone architectural pattern.


Charcot-Marie-Tooth disease type 2

A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.


autosomal recessive amelia

Autosomal recessive amelia is characterized by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three fetuses born to non consanguineous parents.


ataxia - oculomotor apraxia type 4

Any oculomotor apraxia or related oculomotor disease in which the cause of the disease is a mutation in the PNKP gene.


combined deficiency of factor V and factor VIII

Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms.


intellectual disability, autosomal dominant 42

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GNB1 gene.


generalized epilepsy with febrile seizures plus, type 2

Any febrile seizures, familial in which the cause of the disease is a mutation in the SCN1A gene.


neurodegeneration, childhood-onset, with progressive microcephaly


developmental and epileptic encephalopathy 89


idiopathic macular telangiectasia type 3

A rare, acquired, eye disease characterized by progressive visual loss, due to bilateral juxtafoveolar capillary occlusions, capillary telangiectasia, and minimal exudation. It is associated with systemic or cerebral vascular occlusive disease.


juvenile amyotrophic lateral sclerosis with dementia

A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia.


peroxisome biogenesis disorder 7A (Zellweger)

An autosomal recessive condition caused by mutation(s) in the PEX26 gene, encoding peroxisome assembly protein 26. Peroxisome biogenesis disorder 7A manifests phenotypically as Zellweger syndrome.


cataract 12 multiple types

A cataract that has material basis in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22.


immunodeficiency-related disorder

A non-neoplastic or neoplastic disorder that develops in a patient with immunodeficiency. Representative examples include AIDS-related disorders and disorders that develop following organ transplantation.


non-specific autoimmune supratentorial encephalitis without characteristic antibodies


acute myeloid leukemia, Trisomy 8

Any acute myeloid leukemia that has the chromosomal anomaly Trisomy 8. (A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells.)


torsion dystonia 13

DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement.


myocardial stunning

Prolonged dysfunction of the myocardium after a brief episode of severe ischemia, with gradual return of contractile activity.


acute endometritis

An acute, usually bacterial infection affecting the endometrium. It is characterized by the presence of neutrophils or microabscesses in the endometrial glands. Symptoms include fever, lower abdominal pain, and vaginal discharge.


paraneoplastic isolated brainstem encephalitis


familial melanoma

Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family.


acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive

Any acute myeloid leukemia that has the chromosomal anomaly Non-KMT2A MLLT10 rearrangement positive. (An indication that a cytogenetic rearrangement involving MLLT10 but not involving KMT2A was detected in a sample.)


Charcot-Marie-Tooth disease type 5

Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity.


disseminated peritoneal leiomyomatosis

A rare, benign process that affects the peritoneal cavity and is characterized by the formation of multiple small nodules that are composed of well differentiated smooth muscle. It usually affects adults in their late reproductive years. Most patients are asymptomatic. The tumor nodules may regress spontaneously.


neonatal brainstem dysfunction

Neonatal brainstem dysfunction is a rare neurologic disease characterized by the association of suction-swallowing dysfunction, abnormal laryngeal sensitivity and motility (manifesting with dyspnea or obstructive apnea-hypopnea), gastroesophageal reflux (generally resistant to medication) and cardiac vagal overactivity (e.g. brachycardia, vasovagal episodes) of varying degrees of severity. Impaired social interaction has also been reported.


muscle cancer

A malignant neoplasm affecting the skeletal or smooth muscles. Malignant neoplasms arising from the skeletal muscles are called rhabdomyosarcomas. Malignant neoplasms arising from the smooth muscles are called leiomyosarcomas.


NK cell deficiency

A primary immunodeficiency disease that results from defeciency in the number or function of CD56+CD3− NK cell in peripheral blood.


acute myeloid leukemia, t(9;22)(q34.1;q11.2)

Any acute myeloid leukemia that has the chromosomal anomaly t(9;22)(q34.1;q11.2). (A translocation between chromosomes 9 and 22 that is associated with the Philadelphia chromosome.)


adult-onset foveomacular vitelliform dystrophy

Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region.


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1

Any autosomal dominant progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene.


xeroderma pigmentosum group C

An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair.


microcephaly with intellectual disability

Microcephaly characterized by both microcephaly and atypical neurodevelopment, without other commonly reported non-brain related phenotypes.


symptomatic heart failure

A heart failure which results in symptoms such as shortness of breath, fatigue, inability to exerciseb& etc


benign adult familial myoclonic epilepsy

Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia.


pili torti-onychodysplasia syndrome

Pili torti-onychodysplasia is a form of ectodermal dysplasia characterized by dystrophy of the distal part of the nails and trichodysplasia. It has been described in only one family. Transmission is autosomal recessive.


trisomy 18p

Trisomy 18p is an extremely rare chromosomal anomaly with a poorly defined clinical phenotype. Reported manifestations include short stature, mild, moderate or severe developmental delay and intellectual disability, variable but mild facial dysmorphism, and epilepsy.


benign neoplasm of scrotum

A benign neoplasm that involves the scrotum.


Joubert syndrome 21

Any Joubert syndrome in which the cause of the disease is a mutation in the CSPP1 gene.


TUBB4A-related neurologic disorder

Any neurologic condition in which the cause of the disease is a mutation in the TUBB4A gene.


amyotrophic lateral sclerosis type 19

Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ERBB4 gene.


inflammatory poikiloderma with hair abnormalities and acral keratoses


episodic ataxia type 7

Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings.


iatrogenic or traumatic pituitary deficiency


Any neurodevelopmental disorder in which the cause of the disease is a variation in the SYNCRIP gene. It is characterized by a neurologic and developmental disorder with autism spectrum disorder (ASD), intellectual disability (ID), and epilepsy. Other signs and symptoms may include cerebral structural anomalies such as periventricular nodular heterotopia and widening of subarachnoid spaces.


hypotrichosis 12

Any hypotrichosis in which the cause of the disease is a mutation in the RPL21 gene.


developmental and epileptic encephalopathy 94

An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability.


combined oxidative phosphorylation defect type 27

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the CARS2 gene.


nemaline myopathy 5

Amish nemaline myopathy is a type of nemaline myopathy (NM) only observed in several families of the Amish community.


orofaciodigital syndrome IV

Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.


trigonocephaly-broad thumbs syndrome

Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait.


neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion


nanophthalmia

Nanophthalmia is a severe form of microphthalmia characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.


inborn errors of metabolism

An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function.


Cowden syndrome 3

Any Cowden disease in which the cause of the disease is a mutation in the SDHD gene.


tyrosine hydroxylase deficiency

Tyrosine hydroxylase (TH) deficiency is an autosomal recessive disorder characterized by a spectrum of phenotypic features, based on severity and response to levodopa. It can be broadly categorized into TH-deficient dopa-responsive dystonia (mild, with dramatic and sustained response to levodopa), TH-deficiency infantile parkinsonism with motor delay (severe, with incomplete response to levodopa), and TH-deficiency infantile encephalopathy (very severe, with little to no response to levodopa).


monosomy 9q22.3

Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.


dentinogenesis imperfecta type 3

Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy).


primary ciliary dyskinesia 9

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI2 gene.


X-linked intellectual disability, Stoll type is characterized by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked.


erythema multiforme major

A severe, sometimes life-threatening, form of erythema multiforme. It is considered to be a hypersensitivity skin reaction triggered by a variety of stimuli, including infections and medication. It is characterized by raised, edematous papules in the extremities; involvement of one or more mucous membranes; and epidermal detachment involving less than ten percent of the total body surface area.


nutritional deficiency disease, non-human animal


spinocerebellar ataxia type 25

Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia and prominent sensory neuropathy.


la Crosse encephalitis

La Crosse encephalitis (CE) is an acute arboviral infection caused by the La Crosse bunyavirus transmitted by an infected mosquito, usually observed in infants, children or adolescents (6 months to 16 years), and characterized by the onset of flulike symptoms such as fever, chills, nausea, vomiting, headache, and abdominal pain, followed by the onset of encephalitis characterized by somnolence, obtundation, and even seizures, focal neurologic signs (asymmetrical reflexes or Babinski signs), paralysis or even coma. CE can leave sequelae such as residual epilepsy and neurocognitive deficits.


intellectual disability, autosomal recessive 2

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRBN gene.


Whitewater Arroyo hemorrhagic fever

A viral infectious disease that is a hemorrhagic fever, has material basis in Whitewater Arroyo virus, which is transmitted by white-throated woodrats (Neotoma albigula). The infection has symptom fever, has symptom headache, has symptom myalgia, and has symptom hemorrhagic manifestations.


distal monosomy 9p

Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma.


short-rib thoracic dysplasia 14 with polydactyly

An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23.


cone-rod dystrophy 12

Any cone-rod dystrophy in which the cause of the disease is a mutation in the PROM1 gene.


Joubert syndrome 2

Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM216 gene.


inborn disorder of histidine metabolism

An inherited metabolic disease that is has its basis in the disruption of histidine metabolic process.


cataract 36

Any cataract in which the cause of the disease is a mutation in the TDRD7 gene.


Gordon syndrome

An extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.


histiocytic and dendritic cell neoplasm

Rare tumors that affect the hematopoietic and lymphoid tissues. The cells of origin are the histiocytes and accessory cells. They can occur at any age and show no significant variations in geographical distribution. This category includes the histiocytic sarcoma, Langerhans cell histiocytosis, Langerhans cell sarcoma, interdigitading dendritic cell sarcoma/tumor, follicular dendritic cell sarcoma/tumor, and dendritic cell sarcoma, not otherwise specified. (WHO, 2001)


short-rib thoracic dysplasia 7/20 with polydactyly, digenic


AIDS phobia

An overwhelming, irrational, and persistent fear of contracting Acquired Immune Deficiency Syndrome.


ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant


LIPE-related familial partial lipodystrophy


congenital hereditary facial paralysis-variable hearing loss syndrome

Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus.


rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked


early-onset Lafora body disease

Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades.


acute myeloid leukemia, t(1;11)(q21;q23)

Any acute myeloid leukemia that has the chromosomal anomaly t(1;11)(q21;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q21) of chromosome 1 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/MLLT11 (AF1Q) fusions, acute myeloid leukemia and some cases of acute lymphoblastic leukemia.)


thelaziasis

A disease caused by infection with Thelazia.


2q24 microdeletion syndrome

2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.


benign familial neonatal-infantile seizures 1


femoral cancer

A cancer involving a femur.


hereditary spastic paraplegia 47

Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4B1 gene.


atypical choroid plexus papilloma

A choroid plexus papilloma characterized by increased mitotic activity.


pelvis syndrome

PELVIS is an acronym defining the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.


chromosome 3q13.31 deletion syndrome

3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present.


MELAS syndrome caused by mutation in MTTC

Any MELAS syndromein which the cause of the disease is a mutation in the MTTC gene.


neuropathy, hereditary motor and sensory, type 6A

Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the MFN2 gene.


benign mesenchymoma

A term describing a benign soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation.


hypotonia with lactic acidemia and hyperammonemia

This syndrome is characterized by severe hypotonia, lactic academia and congenital hyperammonaemia.


iris neoplasm

A neoplasm (disease) that involves the iris.


pseudohypoaldosteronism, type IB3, autosomal recessive


cardiovascular syphilis

A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries.


Charcot-Marie-Tooth disease type 4B2

Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported.


alveolar capillary dysplasia without misalignment of pulmonary veins

A rare form of interstitial and vascular lung disease that presents as severe pulmonary hypertension and refractory hypoxemia early in life that is characterized by a lack of misalignment of the pulmonary veins.


mitochondrial complex I deficiency, nuclear type


oculoosteocutaneous syndrome

A syndrome is characterized by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive.


classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

The most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia.


myotonic cataract

A cataract occurring as a sequela of myotonic dystrophy.


aphthous stomatitis

A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring.


autosomal recessive spinocerebellar ataxia 17

Any autosomal recessive congenital cerebellar ataxia in which the cause of the disease is a mutation in the CWF19L1 gene.


Alexander disease type I

Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration.


Moyamoya disease 2

Any Moyamoya disease in which the cause of the disease is a mutation in the RNF213 gene.


childhood germ cell tumor

A germ cell tumor that occurs during childhood.


partial monosomy of the short arm of chromosome 20


Unverricht-Lundborg syndrome

Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time.


cervical adenosarcoma

A rare malignant mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign epithelial elements.


autosomal recessive inherited pseudoxanthoma elasticum

An autosomal recessive form of PXE.


Yersinia infectious disease

Infections with bacteria of the genus yersinia.


coagulation protein disease

Congenital or acquired deficiency of one of the coagulation factors. It results in bleeding.


familial cervical artery dissection

An instance of cervical artery dissection that is caused by an inherited modification of the individual's genome.


sympathetic nervous system disorder

A disease or disorder that involves the sympathetic nervous system.


combined oxidative phosphorylation deficiency 29

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TXN2 gene.


acquired hypertrichosis lanuginosa

Acquired hypertrichosis lanuginosa is a rare cutaneous paraneoplastic disease characterized by the presence of excessive lanugo-type hair on the glabrous skin of face, neck, trunk and limbs that can be associated with additional clinical features such as burning glossitis, papillary hypertrophy of the tongue, diarrhea, dysgeusia, and/or weight loss. It is associated with lymphoma or cancer of the gastrointestinal system, urinary tract, lung, breast, uterus or ovary.


autosomal recessive proximal renal tubular acidosis

Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features.


intersphincteric abscess

An abscess contained between the internal and external anal sphincters.


osteosclerosis-ichthyosis-premature ovarian failure syndrome

This syndrome is characterized by sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals.


Ullrich congenital muscular dystrophy 2

Any Ullrich congenital muscular dystrophy in which the cause of the disease is a mutation in the COL12A1 gene.


cataract 28

A cataract that has material basis in variation in the region 6p12-q12.


GRID2-related autosomal dominant spinocerebellar ataxia


mitochondrial complex 1 deficiency, nuclear type 19


myotonia congenita, autosomal recessive

Autosomal recessive form of myotonia congenita.


neurodegeneration with brain iron accumulation 6

COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.


chronic bilirubin encephalopathy

A rare neurologic disease characterized by the chronic consequences of bilirubin toxicity in the globus pallidus, sub-thalamic nuclei, and other brain regions, after exposure to high levels of unconjugated bilirubin in the neonatal period. Symptoms begin after the acute phase of bilirubin encephalopathy in the first year of life, evolve slowly over several years, and include mild to severe extrapyramidal disturbances (especially dystonia and athetosis), auditory neuropathy spectrum disorder, and oculomotor and dental abnormalities.


secondary polyarteritis nodosa

Secondary polyarteritis nodosa (PAN) is a rare serious form of PAN characterized by vasculitis in a background of viral infection, primarily with hepatitis B virus (HBV).


retinitis pigmentosa 29

A retinitis pigmentosa that has material basis in variation in the chromosome region 4q32-q34.


epididymis cancer

A primary or metastatic malignant neoplasm that affects the epididymis. Representative examples include primary epididymal adenocarcinoma and metastatic carcinoma to the epididymis arising from another anatomic site.


hereditary acrokeratotic poikiloderma, Weary type


uterine corpus cancer

A malignant neoplasm involving the body of uterus.


PNPLA6-related spastic paraplegia with or without ataxia

An autosomal recessive, multisystem condition caused by pathogenic variants of the PNPLA6 gene that characterized by peripheral neuropathy, cognitive impairment, lower limb spasticity, muscle weakness, and reduced vibration sense. Additional clinical features may include cerebellar ataxia, hypogonadism, growth hormone deficiency, and hypothyroidism.


cardiac anomalies - developmental delay - facial dysmorphism syndrome


cytokine receptor deficiency

A disease that has its basis in the disruption of cytokine receptor activity.


apperceptive agnosia

An agnosia that is a loss of the ability to distinguish visual shapes.


neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination


camptodactyly syndrome, Guadalajara type 3

Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age.


type I complement component 8 deficiency

Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8A gene.


eyelid cancer

A cancer that involves the eyelid.


ciliary dyskinesia with transposition of ciliary microtubules


spinocerebellar ataxia, autosomal recessive 24

Any autosomal dominant cerebellar ataxia in which the cause of the disease is a mutation in the UBA5 gene.


ulnar-mammary syndrome

Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described.


chromosome 20 disorder

Chromosomal disorder in which chromosome 20 is affected.


human betaherpesvirus 5 infectious disease

A disease caused by infection with Human betaherpesvirus 5.


diastematomyelia

A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida.


autosomal dominant nonsyndromic hearing loss 21

An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p24.1-p22.3.


acute leukemia of ambiguous lineage

An acute leukemia in which the blasts lack sufficient evidence to classify as myeloid or lymphoid or they have morphologic and/or immunophenotypic characteristics of both myeloid and lymphoid cells. (WHO, 2001)


disorder of defective peroxisome oxidative status

Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisome oxidation.


Aland island eye disease

An X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.


cholesterol-ester transfer protein deficiency


idiopathic central precocious puberty

Central precocious puberty for which no underlying cause can be identified.


intellectual disability, autosomal dominant 14

Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1A gene.


endocervical type cervical adenomyoma

An adenomyoma that arises from the cervix and is characterized by the presence of endocervical mucinous glands and a smooth muscle cell component. There is no atypia or significant mitotic activity present.


chromosome 5Q14.3 deletion syndrome, distal


eccrine sweat gland hamartoma

A hamartoma characterized by localized eccrine sweat gland malformation.


leukoplakia of penis

A precancerous condition characterized by the presence of abnormal whitish areas on the glans or prepuce of the penis. Risk factors include chronic irritation, inflammation, and infection of the penis, and poor genital hygiene.


muscular dystrophy, congenital, with rapid progression


RPE65-related recessive retinopathy

A retinopathy, which may include conditions described as retinitis pigmentosa and Leber congenital amaurosis, caused by biallelic variants in the RPE65 gene.


persistent left superior vena cava connecting to the left-sided atrium

Persistent left superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by a persitent left superior vena cava which drains directly to the left atrium, without passing through the coronary sinus (that may be absent in some cases). Patients are usually asymptomatic and discovered incidentally, however hypoxia, cyanosis, murmurs, palpitations, cardiac structural anomalies (e.g. atrial septal defect, bicuspid aortic valve, cor triatrium) and risk of paradoxical embolization may be associated.


ovarian dysgenesis 2

Any primary ovarian failure in which the cause of the disease is a mutation in the BMP15 gene.


atypical hemolytic-uremic syndrome with C3 anomaly


tracheal lymphoma

A rare lymphoma that arises from the trachea. Signs and symptoms include dyspnea, cough, wheezing, and stridor.


Wiskott-Aldrich syndrome, autosomal dominant form


laryngeal granuloma

A tumor-like nodule or mass of inflammatory granulation tissue projecting into the lumen of the LARYNX.


hyper-IgE recurrent infection syndrome 5, autosomal recessive


glycogen storage disease I

Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver.


intravenous leiomyomatosis

A rare benign neoplasm characterized by the presence of smooth muscle cells growing within veins.


ASAH1-related disorders

The spectrum of ASAH1-related disorders ranges from Farber disease (FD) to spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). The diagnosis of an ASAH1-related disorder is established in a proband with suggestive clinical findings by identification of biallelic pathogenic variants in ASAH1 and/or decreased activity of the enzyme acid ceramidase in peripheral blood leukocytes or cultured skin fibroblasts.


non-specific autoimmune brainstem encephalitis without characteristic antibodies


mitochondrial complex III deficiency nuclear type 3

Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRB gene.


basilar artery occlusion

Evidence of occlusion and stenosis of basilar artery.


testicular trophoblastic tumor

A tumor that arises from the testis and is composed of neoplastic trophoblastic cells. The vast majority of cases are choriocarcinomas.


well differentiated papillary mesothelioma

A localized or multifocal mesothelioma arising from the peritoneum and less often the pleura. Cases arising from the peritoneum predominantly occur in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to malignant mesothelioma.


Plummer disease

Nodular enlargement of the thyroid gland associated with hyperthyroidism.


malignant tumor of neck

A cancer that involves the neck.


deficiency of adenosine deaminase 2

Any disease or disorder in which the cause of the disease is a mutation in the ADA2 gene.


acute myeloid leukemia, KIT exon 17 mutation

Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 17 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 17 of the KIT gene located within 4q11-q12.)


urogenital tuberculosis

A general term for mycobacterium infections of any part of the urogenital system in either the male or the female.


spastic paraplegia-glaucoma-intellectual disability syndrome

Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive.


immune epilepsy

Epilepsies that have a distinct immune-mediated etiology with evidence of central nervous system inflammation, that has been demonstrated to be associated with a substantially increased risk of developing epilepsy.


papillary conjunctivitis

Conjunctivitis that is characterized by the formation of papillae on the palpebral conjunctiva.


EBV-positive T-cell lymphoproliferative disorder of childhood

An Epstein-Barr virus-associated mature T-cell lymphoproliferative group of disorders affecting children. It occurs with increased frequency in Asians and Native Americans. It includes the systemic EBV-positive T-cell lymphoma of childhood and the hydroa vacciniforme-like lymphoma.


junctional epidermolysis bullosa

Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation.


Hoyeraal-Hreidarsson syndrome

Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.


autosomal recessive omodysplasia

Autosomal recessive form of omodysplasia.


benign angiitis of the central nervous system

A central nervous system vasculitis that has a benign course, with acute onset of neurologic symptoms, usually in the form of severe headache and/or a focal neurologic event.


intellectual disability-myopathy-short stature-endocrine defect syndrome

Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985.


pachyonychia congenita 2

Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT17 gene.


synovial chondromatosis

Synovial chondromatosis is a type of non-cancerous tumor that arises in the lining of a joint. The knee is most commonly affected, however it can affect any joint. The tumors begin as small nodules of cartilage. These nodules can separate and become loose within the joint. Some tumors may be no larger than a grain of rice. Synovial chondromatosis most commonly occurs in adults ages 20 to 50. Signs and symptoms may include pain, swelling, a decreased range of motion, and locking of the joint. The exact underlying cause of the condition is unknown. Treatment may involve surgery to remove the tumor. Recurrence of the condition is common.


opportunistic mycosis

A mycosis that arises from infection in an immunologically compromised host.


cataract 21 multiple types

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the MAF gene.


anemia, congenital dyserythropoietic, type 1a


Cowden syndrome 4

Any Cowden disease in which the cause of the disease is a mutation in the KLLN gene.


infectious encephalitis

An acute infectious process that affects the brain tissue. It is usually caused by viruses and less often by bacteria, parasites, and fungi.


auditory neuropathy, autosomal dominant 2


autosomal recessive Alport syndrome

Autosomal recessive Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About15 percentof Alport syndrome cases are inherited in an autosomal recessive pattern and are caused bymutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed.


spermatogenic failure 3

Any azoospermia in which the cause of the disease is a mutation in the SLC26A8 gene.


hereditary cryohydrocytosis with reduced stomatin


cerebellar-facial-dental syndrome

A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has material basis in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32.


multiple congenital anomalies/dysmorphic syndrome without intellectual disability


hyperdibasic aminoaciduria type 1

Hyperdibasic aminoaciduria, type 1 is characterized by increased renal clearance of lysine, ornithine and arginine, in the presence of normal concentrations of cystine. Heterozygous individuals are asymptomatic but homozygotes display intellectual deficit. To date, 25 heterozygotes and one homozygote have been reported.


hypertrichosis lanuginosa congenita

Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes.


epidermolysis bullosa simplex superficialis

Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized or acral superficial erosions in the absence of blisters.


peripheral nervous system cancer

Malignant growth of cells in the peripheral nervous system (PNS)or Autonomic Nervous System (ANS), without specification as to location


renal dysplasia

Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia.


hereditary spastic paraplegia 50

Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4M1 gene.


developmental and epileptic encephalopathy, 44

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the UBA5 gene.


blepharophimosis-ptosis-epicanthus inversus syndrome type 2


T-cell immunodeficiency, congenital alopecia, and nail dystrophy

A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has material basis in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12.


urachus cancer

A malignant neoplasm involving the urachus.


ectodermal dysplasia-cutaneous syndactyly syndrome


myoclonus-dystonia syndrome

Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.


distal hereditary motor neuropathy type 2


pediatric Castleman disease

Pediatric Castleman disease (PCD) is a form of Castleman disease (CD) with a predominant occurrence in teenagers which is either asymptomatic or manifest by systemic (such as fever, anemia, fatigue and failure to thrive) or compressive symptoms.


ATP6AP2-related disorder

Variants in the gene ATP6AP2 have been associated with a multitude of diseases, including X-linked syndromic ID Hedera type, X-linked Parkinsonism-spasticity syndrome, and congenital disorder of glycosylation type 2R. Phenotypes include global developmental delay, intellectual disability, progressive neurologic decline, spasticity, seizures, infantile onset of liver failure, recurrent infections, dysmorphic features, and features of parkinsonism (rigidity, resting tremor, bradykinesia). These phenotypes do not appear in all individuals with one of the above disease assertions, but many are overlapping phenotypes.


cerebral palsy, spastic quadriplegic, 3

Any spastic quadriplegia in which the cause of the disease is a mutation in the ADD3 gene.


neuronopathy, distal hereditary motor, autosomal recessive 5

Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared.


cough variant asthma

An asthma that is characterized by chronic nonproductive cough without shortness of breath.


disorder of vitamin and non-protein cofactor absorption and transport


chronic childhood arthritis

An older, deprecated term that encompassed three major types of autoimmune or autoinflammatory arthritis in children: systemic-onset, pauciarticular, or polyarticular arthritis. The juvenile rheumatoid arthritis classification system has been replaced by the International League of Associations for Rheumatology (ILAR) juvenile idiopathic arthritis classification system.


heart-hand syndrome, Slovenian type

A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.


asphyxiating thoracic dystrophy 5

Any Jeune syndrome in which the cause of the disease is a mutation in the WDR19 gene.


partial deletion of the short arm of chromosome 11


oocyte/zygote/embryo maturation arrest 17


acute pandysautonomia

Acute pandysautonomia is a rare variant of Guillain-Barré syndrome characterized by acute post-ganglionic sympathetic and parasympathetic failure presenting several weeks after acute infection with gastrointestinal symptoms (abdominal pain, vomiting, constipation, diarrhea, gastroparesis, ileus), orthostatic hypotension, erectile dysfunction, urinary frequency, urgency or retention, vasomotor instability with acrocyanosis and reduced salivation, lacrimation and sweating.


venous thromboembolism

Occlusion of the lumen of a vein by a thrombus that has migrated from a distal site via the blood stream.


combined oxidative phosphorylation defect type 20

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the VARS2 gene.


retina neoplasm

A neoplasm (disease) that involves the retina.


hereditary sclerosing poikiloderma, Weary type


immunodeficiency 74, COVID-19-related, X-linked


thyroid ectopia

Thyroid ectopia is a form of thyroid dysgenesis characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.


epithelioid cell uveal melanoma

A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes.


drug- or toxin-induced pulmonary arterial hypertension

Drug- or toxin-induced pulmonary arterial hypertension (PAH) is a form of pulmonary arterial hypertension (PAH) secondary to the exposition to drugs. Drug- or toxin-induced PAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. Drug or toxin induced PAH is progressive and potentially fatal.


glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form


microcornea-glaucoma-absent frontal sinuses syndrome

Microcornea-glaucoma-absent frontal sinuses syndrome is characterized by microcornea, glaucoma and absent frontal sinuses. Less 10 cases have been described so far. The mode of transmission appears to be autosomal dominant.


neuronopathy, distal hereditary motor, autosomal recessive 9


pontocerebellar hypoplasia type 1B

Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the EXOSC3 gene.


infancy electroclinical syndrome

An electroclinical syndrome with onset in infancy occurring between birth and one year of age.


partial deletion of the long arm of chromosome 19


Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic.


craniodiaphyseal dysplasia, autosomal dominant


mitochondrial DNA depletion syndrome 11

Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.