focal segmental glomerulosclerosis 7

Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the PAX2 gene.


autosomal recessive familial Mediterranean fever

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Autosomal recessive form of familial Mediterranean fever.


infantile spasms-broad thumbs syndrome

A rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990.


necatoriasis

A disorder caused by an infection with hookworms of the genus Necator, which settle in the host's small intestine, and cause abdominal pain, diarrhea, weight loss, and anemia.


childhood multilocular cystic kidney neoplasm

A cystic neoplasm which arises from the kidney and occurs in children. It includes the cystic partially differentiated nephroblastoma and cases in which nephroblastomatous elements are not present.


parasitic skin disorder

Skin diseases caused by ARTHROPODS; HELMINTHS; or other parasites.


pelvic varices

A varicose disease that involves the pelvic region of trunk.


autosomal dominant vibratory urticaria

An autosomal dominant disease characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum.


multifocal dystonia

A dystonia that involves two or more unrelated body parts.


partial deletion of the short arm of chromosome 7

Chromosome 7p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.


glycogen storage disease V

Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance.


hemophagocytic lymphohistiocytosis, familial, 6


partial trisomy/tetrasomy of chromosome 5


diffuse idiopathic pulmonary neuroendocrine cell hyperplasia

A very rare condition characterized by generalized proliferation of pulmonary neuroendocrine cells. It manifests as progressive cough and dyspnea. It is considered a precursor for pulmonary carcinoid tumor.


acquired chronic primary adrenal insufficiency

An instance of chronic primary adrenal insufficiency that is acquired during the lifetime of the individual.


anonychia with flexural pigmentation

Anonychia with flexural pigmentation is characterised by anonychia and skin abnormalities (hyper- and hypopigmentation in axillae and groins, dry palmar and plantar skin leading to sore and cracked soles). It has been described in a mother and her two children. The mode of transmission is autosomal dominant.


spinocerebellar ataxia, autosomal recessive 27


benign occipital epilepsy

Benign occipital epilepsy is a rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes.


partial duplication of the short arm of chromosome 10


maternal uniparental disomy of chromosome 13

Maternal uniparental disomy of chromosome 13 is an uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.


dystrophic epidermolysis bullosa, nails only

Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB) that shows no blistering and that is characterized by dystrophic or absent nails.


Gamma-glutamylcysteine synthetase deficiency is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.


erythrokeratodermia variabilis

A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema.


cystic neoplasm

A benign or malignant neoplasm that contains a single or multiple cystic spaces. Examples include cystadenoma, mucinous cystadenocarcinoma, and serous cystadenocarcinoma.


physiological malfunction arising from mental factor

A dysfunction in biological function that is due to a psychological process.


vitamin K-dependent clotting factors, combined deficiency of, type 1

Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z.


rigid spine muscular dystrophy 1

An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It is characterized by severe limitation in flexion of the dorsolumbar and cervical spine, due to contracture of the spinal extensors. It leads to loss of movement of the spine and the thoracic cage.


pontocerebellar hypoplasia, type 2F

Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN15 gene.


hereditary spastic paraplegia 4

Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset.


uveoparotid fever

A manifestation of sarcoidosis marked by chronic inflammation of the parotid gland and the uvea.


diaphragma sellae meningioma

A meningioma that affects the diaphragma sellae.


primary pediatric heart tumor

Cardiac tumours are benign or malignant neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic.


Fuchs heterochromic iridocyclitis

Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown etiology occurring in a very small percentage (0.5-6.2%) of uvietis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities.


Norwegian scabies

A rare, severe form of scabies that is associated with immunosuppression. It is characterized by an immense number of mites and hyperkeratotic crusted lesions, and is usually accompanied by lymphadenopathy and eosinophilia.


cutaneous liposarcoma

A malignant adipose tissue neoplasm of the skin.


fibular aplasia-ectrodactyly syndrome

Fibular aplasia-ectrodactyly syndrome is characterized by fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females.


mitochondrial complex 2 deficiency, nuclear type 3


nephrotic syndrome, type 8

Any nephrotic syndrome in which the cause of the disease is a mutation in the ARHGDIA gene.


Rieger anomaly

Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of AxenfeldBs anomaly.


acquired rippling muscle disease

The acquired form of RMD. Although RMD most often is reported with autosomal dominant inheritance, some sporadic cases are found, and an association with other diseases such as myasthenia gravis has also been reported.


tibio-fibular synostosis

Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee.


peritoneal well differentiated papillary mesothelioma

A localized or multifocal mesothelioma arising from the peritoneum. It predominantly occurs 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 diffuse malignant mesothelioma.


ring chromosome 11

Ring chromosome 11 syndrome is an autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported.


junctional epidermolysis bullosa inversa

Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina.


foveal hypoplasia 1

Any foveal hypoplasia in which the cause of the disease is a mutation in the PAX6 gene.


deletion 5q35

Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of NKX2.5 (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment.


partial deletion of the short arm of chromosome 16


pachyonychia congenita 4

Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6B gene.


acquired neuromuscular junction disease

An instance of neuromuscular junction disease that is acquired during the lifetime of the individual.


orofaciodigital syndrome VIII

Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit.


prosopagnosia, hereditary

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


cone-rod synaptic disorder, congenital nonprogressive


myeloid leukemia associated with down syndrome

An acute megakaryocytic leukemia occurring in children with Down syndrome and that has material basis in mutation in the GATA1 gene.


nodular lymphocyte predominant Hodgkin lymphoma

A monoclonal B-cell neoplasm characterized by a nodular, or a nodular and diffuse proliferation of scattered large neoplastic cells known as popcorn or lymphocyte predominant cells (LP cells)- formerly called L&H cells for lymphocytic and/or histiocytic Reed-Sternberg cell variants. The LP cells lack CD15 and CD30 in nearly all instances. Patients are predominantly male, frequently in the 30-50 year age group. Most patients present with limited stage disease (localized peripheral lymphadenopathy, stage I or II). (WHO 2008)


congenital disorder of glycosylation, type IIq


early-onset calcifying leukoencephalopathy-skeletal dysplasia


maternal uniparental disomy of chromosome 9

Maternal uniparental disomy of chromosome 9 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.


glaucoma with elevated episcleral venous pressure


peritoneal multicystic mesothelioma

A cystic mesothelioma that arises from the peritoneum and usually affects young to middle aged females. Grossly, it presents as a large multiloculated tumor mass, usually in the pelvic peritoneum. Histologically it is characterized by the presence of multiple cysts that are lined by one or more layers of mesothelial cells that do not show atypia. Patients usually present with abdominal or pelvic mass and pain. The clinical course is indolent. The tumor may recur, but transformation to diffuse malignant mesothelioma is rare.


mitochondrial complex III deficiency nuclear type 1

Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the BCS1L gene.


cervix melanoma

An aggressive malignant tumor of melanocytic origin that arises from the cervix.


internal hirudiniasis

A condition resulting from accidental ingestion of leeches in drinking water. They may attach themselves to the wall of the pharynx, nasal cavity, or larynx.


ocular melanoma with extraocular extension

A melanoma arising from and extending beyond the structures of the eye.


acquired pituitary hormone deficiency

An instance of hypopituitarism that is acquired during the lifetime of the individual.


Kandori fleck retina

Kandori fleck retina is a rare, genetic retinal dystrophy characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness.


vestibulocochlear nerve disorder

A disease involving the vestibulocochlear nerve.


GM1 gangliosidosis type 1

GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations.


Meckel syndrome, type 6

Any Meckel syndrome in which the cause of the disease is a mutation in the CC2D2A gene.


neonatal lupus erythematosus

A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis.


amelogenesis imperfecta type 1F

Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMBN gene.


orofaciodigital syndrome type II

Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.


achondrogenesis type IB

Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.


spinocerebellar ataxia type 36

Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia.


lethal short-limb skeletal dysplasia, Al Gazali type


grade II meningioma

An atypical meningioma which may recur in approximately 29-40% of the cases. This category includes the atypical meningioma, chordoid meningioma, and clear cell meningioma.


postpoliomyelitis syndrome

Postpoliomyelitis syndrome (PPS) is a neurologic disorder characterized by the development of new neuromuscular symptoms such as progressive muscular weakness or abnormal muscle fatigability occurring in survivors of the acute paralytic form of poliomyelitis, 15-40 years after recovery from the disease, and that is unexplained by other medical causes. Other manifestations that can occur gradually include generalized fatigue, muscle atrophy, muscle and joint pain, intolerance to cold, and difficulties sleeping, swallowing or breathing.


orofaciodigital syndrome type 12

Orofaciodigital syndrome type 12 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia), in addition to oral, facial and digital malformations (gingival frenulae, bifid tongue, supernumerary teeth, macrocephaly, hypertelorism, pre- and post-axial polydactyly in hands, preaxial polydactyly in feet and club feet). Skeletal anomalies, such as short tibiae and central, Y-shaped metacarpals, are also associated.


mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)

Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the OPA1 gene.


amelogenesis imperfecta, type 3A

Any amelogenesis imperfecta in which the cause of the disease is a mutation in the FAM83H gene.


testicular granulosa cell tumor

A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile.


inborn metal metabolism disorder

An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals.


extracutaneous mastocytoma

A localized tumor consisting of mature mast cells. (WHO, 2001) -- 2003


spinocerebellar ataxia type 29

Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.


inherited prekallikrein deficiency

An instance of prekallikrein deficiency that is caused by an inherited modification of the individual's genome.


talo-patello-scaphoid osteolysis

Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E), in the absence of renal disease. Autosomal recessive inheritance has been suggested.


stromal corneal dystrophy

The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy.


platelet-type bleeding disorder 9

Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ITGA2 gene.


split hand

Split hand is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral or unilateral underdevelopment or absence of the central rays of the autopod, with absence of all or just some of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age.


cerebral arterial disease

Pathological conditions of intracranial arteries supplying the cerebrum. These diseases often are due to abnormalities or pathological processes in the anterior cerebral artery; middle cerebral artery; and posterior cerebral artery.


spastic ataxia-dysarthria due to glutaminase deficiency


qualitative or quantitative defects of gamma-sarcoglycan


hypoalphalipoproteinemia, primary, 1

Any ypoalphalipoproteinemia in which the cause of the disease is a mutation in the ABCA1 gene.


methanol poisoning

Methanol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the alcohol dehydrogenase (ADH)-mediated production of formic acid (which is poisonous to the central nervous system), and characterized by dizziness, nausea, vomiting, confusion, metabolic acidosis, visual disturbances (which if left untreated can lead to blindness), coma, and death (due to respiratory failure).


palpebral lentiginosis

A lentigo that involves the skin of eyelid.


isolated glycerol kinase deficiency

Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD ).


genital herpes simplex type 2 infectious disorder

Any herpes simplex type 2 infectious disease that involves the genitals.


ostertagiasis

A disease of herbivorous mammals, particularly cattle and sheep, caused by stomach worms of the genus ostertagia.


maternal uniparental disomy of chromosome 22


congenital laryngeal palsy

Congenital laryngeal palsy is a rare larynx anomaly characterized by unilateral or bilateral paralysis of the vocal cords as a result of dysfunction of the motor nerve supply to the larynx. Patients typically present at birth (or shortly thereafter) with stridor, weak or breathy cry, dysphonia or aphonia, feeding or aspiration difficulties and, occasionally, respiratory compromise. Neurological disease, masses that cause compression and aberrant vessels are often associated. Most cases resolve spontaneously over 6-12 months.


split hand, unilateral

Split hand, unilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by unilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age.


carpotarsal osteochondromatosis

Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs.


myopathy, congenital, with respiratory insufficiency and bone fractures


renal hypodysplasia/aplasia 2

Any renal agenesis in which the cause of the disease is a mutation in the FGF20 gene.


proximal chromosome 18q deletion syndrome

Chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material from the part of the long (q) arm near the center of chromosome 18.


Fitz-Hugh-Curtis syndrome

Fitz-Hugh-Curtis syndrome (FHCS) is a condition in which a woman has swelling of the tissue covering the liver as a result of having pelvic inflammatory disease (PID). Symptoms most often include pain in the upper right abdomen just below the ribs, fever, nausea, or vomiting. The symptoms of pelvic inflammatory disease - pain in the lower abdomen and vaginal discharge -are oftenpresent as well. FHCS is usually caused by an infection of chlamydia or gonorrhea that leads to PID; it is not known why PIDprogresses toFHCS in some women. Fitz-Hugh-Curtis syndrome is treatedwith antibiotics.


cutaneous solitary mastocytoma

A variant of cutaneous mastocytosis which occurs as a single lesion usually in infants. It is found mostly in the wrist and trunk and there is no atypical cytomorphology.


spastic monoplegia

A spastic cerebral palsy that affects only one limb.


metachromatic leukodystrophy, juvenile form

Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin.Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes.


eastern equine encephalitis

Eastern equine encephalitis (EEE) is an acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that is characterized by the onset of flulike symptoms including fever, chills, weakness, headache, vomiting, abdominal pain with diarrhea, myalgia, leucocytosis, and hematuria, rapidly progressing to diffuse central nervous system (CNS) involvement with confusion, somnolence, or even coma. Seizures, which may progress to status epilepticus and neurologic sequelae, cranial nerve palsies, and photophobia may occur. EEE is associated with a high rate of morbidity and mortality.


2q23.1 microduplication syndrome

2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioural problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported.


Perrault syndrome

Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.


pineal region meningioma

A meningioma that affects the pineal gland.


hamel cerebro-palato-cardiac syndrome

Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.


acute myeloid leukemia with t(6;9)(p23;q34)

Acute myeloid leukemia with t(6;9)(p23;q34) is a rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported.


qualitative or quantitative defects of alpha-sarcoglycan


lichen planus pigmentosus

Lichen planus (LP) pigmentosus is a rare variant of cutaneous lichen planus characterized by the presence of hyperpigmented lichenoid lesions in sun-exposed or flexural areas of the body.


acute myeloid leukemia with mutated NPM1

An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features. It usually responds to induction therapy.


erythrokeratodermia variabilis et progressiva 5


combined immunodeficiency due to partial RAG1 deficiency

A form of combined T and B cell immunodeficiency (CID) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.


disorder of methylamine metabolism

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


diabetic peripheral angiopathy

Diabetic angiopathy is a form of angiopathy associated with diabetic complications.


osteogenesis imperfecta type 17

Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SPARC gene.


protein-energy malnutrition

A nutritional deficit that is caused by inadequate protein or calorie intake.


GNE myopathy

Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps.


intellectual disability, autosomal recessive 53


vitelliform macular dystrophy 4

Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG1 gene.


xeroderma pigmentosum group G

Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC5 gene.


autosomal genetic disease

A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes.


pyeloureteritis cystica

A non-neoplastic lesion of the ureter characterized by the presence of multiple submucosal small cysts in the ureteral wall.  It is caused by inflammation due to urinary tract stones or infection.


visceral malformation of the liver, biliary tract, pancreas or spleen


rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome


radiation-induced disorder

A non-neoplastic or neoplastic disorder which results from exposure to radiation. Examples of non-neoplastic disorders include dermatitis, enteritis, stomatitis, pneumonitis, and cerebritis. Examples of neoplastic disorders include myelodysplastic syndromes, leukemias, and sarcomas.


primary ciliary dyskinesia 25

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF4 gene.


autosomal recessive distal titinopathy

A rare myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs. Described as a more severe tibial muscular dystrophy phenotype, distal titinopathy is associated with earlier onset and progression to include soleus muscle and proximal muscles.


Ewing sarcoma/peripheral primitive neuroectodermal tumor

A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms.


cone-rod dystrophy 18

Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAB28 gene.


thrombocytopenia 4

Any thrombocytopenia in which the cause of the disease is a mutation in the CYCS gene.


Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1


congenital absence of both lower leg and foot, bilateral


erythematosquamous dermatosis

A skin condition that primarily affects the scalp and face and presents as scaly inflammation. Examples include itchy, dry skin and dandruff.


interdigitating dendritic cell sarcoma

A neoplastic proliferation of spindle to ovoid cells which show phenotypic features similar to those of interdigitating dendritic cells. The clinical course is generally aggressive. (WHO, 2008)


osteogenic neoplasm

A benign, intermediate, or malignant bone-forming neoplasm. Representative examples include osteoma, osteoblastoma, and osteosarcoma.


atypical polypoid adenomyoma

An adenomyoma characterized by the presence of marked glandular architectural complexity.


nemaline myopathy 6

Any nemaline myopathy in which the cause of the disease is a mutation in the KBTBD13 gene.


malignant renal pelvis neoplasm

A primary or metastatic malignant neoplasm that affects the renal pelvis.


Leydig cell hypoplasia due to complete LH resistance


maternal uniparental disomy of chromosome 20

Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy.


combined oxidative phosphorylation deficiency 34


spinal muscular atrophy, type III

Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.


disorder of carbohydrate transmembrane transport and absorption


von Willebrand disease (hereditary or acquired)

Hereditary or acquired coagulation disorder characterized by a qualitative or quantitative deficiency of the von Willebrand factor. The latter plays an important role in platelet adhesion. Signs and symptoms include bruises, nose bleeding, gum bleeding following a dental procedure, heavy menstrual bleeding, and gastrointestinal bleeding.


intellectual disability-hypotonia-spasticity-sleep disorder syndrome


megaconial type congenital muscular dystrophy


cardiac diverticulum

Congenital cardiac diverticulum (CCD) is a very rare congenital malformation characterized by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening hemodynamic collapse.


botryomycosis

A rare chronic suppurative bacterial infection involving mostly subcutaneous tissues and less frequently other organs. Botryomycosis is mostly caused by Staphylococcus aureus, Escherichia coli and Pseudomonas aeruginosa but the exact pathogenesis remains uncertain. Treatment often requires a combination of both surgical debridement and long-term antimicrobial therapy.


herpangina

A viral infectious disease that results in infection located in mouth, has material basis in Human coxsackievirus A16, has material basis in Human enterovirus 71, has material basis in group B coxsackievirus, or has material basis in echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars.


hypotonia, infantile, with psychomotor retardation and characteristic facies 1

Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the NALCN gene.


sulfide quinone oxidoreductase deficiency


primary orthostatic hypotension

Primary orthostatic hypotension is a rare type of orthostatic hypotension. It is not a disease per se, but a condition caused by several disorders that affect a specific part of the autonomic nervous system, such as multiple system atrophy, young-onset Parkinson's disease, pure autonomic failure, dopamine beta-hydroxylase deficiency, familial dysautonomia, and pure autonomic failure among others. The autonomic nervous system is the part of the nervous system that regulates certain involuntary body functions such as heart rate, blood pressure, sweating, and bowel and bladder control. Orthostatic hypotension is a form of low blood pressure that happens when standing-up from sitting or lying down. Common symptoms may include dizziness, lightheadedness, generalized weakness, leg buckling, nausea, blurry vision, fatigue, and headaches. Additional symptoms can include chest pain (angina), head and neck pain (often affecting neck and shoulders with a coat hanger distribution), decline in cognitive functioning such as difficulty concentrating, temporary loss of consciousness or “blackout”. Some people with primary orthostatic hypotension may also have high blood pressure when lying down. The treatment depends upon several factors including the specific underlying cause including The treatment depends upon several factors including the specific underlying cause and may include physical counter-maneuvers like lying down, sitting down, squatting clenching buttocks, leg crossing, and support garment and medication.


achondrogenesis type IA

Achondrogenesis type 1A (ACG1A), a form of achondrogenesis, is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.


GNPTG-mucolipidosis

A very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis II and mucolipidosis III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.


nystagmus 4, congenital, autosomal dominant


atypical lipomatous tumor

An intermediate, locally aggressive lipomatous neoplasm. Microscopically, the adipose tissue contains large and pleomorphic lipoblasts, and is dissected by fibrous septa containing spindle cells. It requires a wide local excision, may recur locally, but never metastasizes.


facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome

Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome is characterised by Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive.


combined PSAP deficiency

Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses.


acquired hemoglobinopathy

An instance of hemoglobinopathy that is acquired during the lifetime of the individual.


humeral agenesis/hypoplasia

Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist.


non-histaminic angioedema

Angioedema is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.


neurodevelopmental disorder with or without anomalies of the brain, eye, or heart


X-linked spinocerebellar ataxia type 4

Spinocerebellar ataxia, X-linked, type 4 is characterised by ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life.


thrombophilia, X-linked, due to factor 9 defect

A hemostatic disorder characterized by a tendency to thrombosis that has X-linked recessive inheritance, and can be caused by a gain-of-function mutation in the gene encoding factor IX (F9).


pediatric meningioma

A meningioma that occurs during childhood.


neuronal ceroid lipofuscinosis 11

Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the GRN gene.


focal facial dermal dysplasia type III

Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.


congenital disorder of deglycosylation 1

A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities.


leukoencephalopathy with bilateral anterior temporal lobe cysts

Leukoencephalopathy with bilateral anterior temporal lobe cysts is a nonprogressive neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. The etiology is unknown but an autosomal recessive mode of inheritance has been suggested.


childhood onset asthma

Asthma that starts in childhood.


mitochondrial complex 4 deficiency, nuclear type 14


intellectual disability, autosomal dominant 33

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DPP6 gene.


infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia

A rare genetic respiratory disease characterized by infantile onset of pulmonary alveolar proteinosis with hypogammaglobulinemia. Patients have normal respiratory function at birth, but subsequently develop recurrent, mainly viral, infections and progressive respiratory failure, often leading to death in infancy or early childhood. Additional reported features include leukocytosis and splenomegaly.


congenital stromal corneal dystrophy

Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss.


Zika virus congenital syndrome

A congenital birth syndrome that arises from materal Zika infection.


X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982.


dentinogenesis imperfecta type 2

Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI) and is characterized by weakness and discoloration of all teeth.


moderately severe hemophilia A

Moderately severe hemophilia A is a form of hemophilia A characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.


hereditary spastic paraplegia 10

Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case.


spondylocostal dysostosis 5

Any spondylocostal dysostosis in which the cause of the disease is a mutation in the TBX6 gene.


glucocorticoid deficiency 2

Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MRAP gene.


amelia of lower limb

A non-syndromic amelia that involves the hindlimb.


central polydactyly of fingers, bilateral


granular corneal dystrophy type I

Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe.


progressive supranuclear palsy-progressive non-fluent aphasia syndrome

PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP.


benign neoplasm of meninges

A benign neoplasm that involves the meningeal cluster.


HIV enteropathy

A syndrome characterized by chronic, well-established diarrhea (greater than one month in duration) without an identified infectious cause after thorough evaluation, in an hiv-positive individual. It is thought to be due to direct or indirect effects of hiv on the enteric mucosa. hiv enteropathy is a diagnosis of exclusion and can be made only after other forms of diarrheal illness have been ruled out. (Harrison's Principles of Internal Medicine, 13th ed, pp1607-8; Haubrich et al., Bockus Gastroenterology, 5th ed, p1155)


vitamin D-dependent rickets, type 2A

Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia.


pulmonary artery coming from the aorta

Pulmonary artery coming from the aorta (PACA) is a cardiac malformation characterized by anomalous origin of one branch of the pulmonary arteries from the ascending aorta and a normal origin of the other pulmonary artery from the right ventricular outflow tract, and presenting with respiratory distress, congestive heart failure and failure to thrive within the first days/months of life.


meningoencephalitis

Inflammation of the meninges and brain, generally secondary to an infectious cause. Pathogens may be bacterial, viral, fungal, or protozoan.


B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality

The term refers to precursor lymphoid neoplasms which are composed of B-lymphoblasts and characterized by the presence of recurrent genetic abnormalities.


familial steroid-resistant nephrotic syndrome with sensorineural deafness


macrothrombocytopenia, isolated, 2, autosomal dominant


lethal faciocardiomelic dysplasia

Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome.


hypoplasminogenemia

Severe hypoplasminogenemia (HPG) or type 1 plasminogen (plg) deficiency is a systemic disease characterised by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae during wound healing.


intellectual disability, autosomal dominant 1

An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures.


A syndrome is characterised by ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far, eight cases have been described.


anterior optic tract meningioma

A meningioma that affects the anterior visual pathway.


orbital granuloma

A granuloma located on the orbit of the eye.


retinal ciliopathy due to mutation in Usher gene


immunodeficiency, common variable, due to APRIL deficiency

Any commonn variable immunodeficiency in which the cause of the disease is an autosomal recessive variation in the TNFS13 gene.


benign Samaritan congenital myopathy

Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood.


oligoarticular juvenile idiopathic arthritis

Oligoarticular juvenile arthritis is the most common form of juvenile idiopathic arthritis (JIA), representing nearly 50% of cases.


non-syndromic brachydactyly of fingers

A non-syndromic brachydactyly that involves the manus.


calvarial doughnut lesions-bone fragility syndrome

This syndrome is characterised by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria.


autosomal recessive disease

Autosomal recessive form of disease.


intellectual disability, autosomal recessive 16


distal monosomy 1q

1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.


early-onset pulmonary and cutaneous vasculitis

A monogenic autoinflammatory disorder caused by a de novo activating mutation, p.Tyr515∗, in hematopoietic cell kinase (HCK). The disease is characterized by cutaneous vasculitis and chronic pulmonary inflammation that progresses to fibrosis.


alcohol and nicotine codependence

A drug dependence that is the physiological result of being addicted to alcohol and nicotine.


Cenani-Lenz syndactyly syndrome

Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.


autosomal recessive nonsyndromic hearing loss 37

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene.


soft tissue chondroma

A benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification.


neurolymphomatosis

A transmissible viral disease of birds caused by avian herpesvirus 2 (herpesvirus 2, gallid) and other mardivirus. There is lymphoid cell infiltration or lymphomatous tumor formation in the peripheral nerves and gonads, but may also involve visceral organs, skin, muscle, and the eye.


tooth agenesis, selective, 3

Any tooth agenesis in which the cause of the disease is a mutation in the PAX9 gene.


FRAXE intellectual disability

A nonsyndromic X-linked mental retardation (NS-XLMR) characterized by mild intellectual deficit. FRAXE is the most common form of NS-XLMR.


B-cell adult acute lymphocytic leukemia

An acute B-lymphoblastic leukemia occurring in adults.


focal palmoplantar and gingival keratoderma

Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement.


primary ciliary dyskinesia 5

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


disease related to hematopoietic stem cell transplant

Disease that occurs as a consequence of immunosuppression in a recipient of a hematopoietic stem cell transplant, or as a consequence of the transplantation.


carnitine palmitoyl transferase II deficiency, neonatal form

The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.


Mycoplasma encephalitis

Mycoplasma encephalitis is a rare infectious encephalitis characterized by an acute onset of neurological signs and symptoms (e.g. altered consciousness, seizures, headaches, meningeal signs, behavioral changes) due to bacterial infection by Mycoplasma pneumoniae. Patients typically present unspecific signs and symptoms, such as fever, nausea, vomiting, fatigue, prior to onset of neurological manifestations and frequently have a history of a respiratory tract infection (e.g. pneumonia, bronchiolitis, pharyngitis).


benign neoplasm of testis

A benign neoplasm that involves the testis.


focal palmoplantar keratoderma with joint keratoses


Cornelia de Lange syndrome 4

Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the RAD21 gene.


hypogonadotropic hypogonadism 22 with or without anosmia

Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FEZF1 gene.


brainstem neoplasm

A neoplasm (disease) that involves the brainstem.


porencephaly-cerebellar hypoplasia-internal malformations syndrome

Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed.


congenital dyserythropoietic anemia type 2

Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.


MELAS syndrome caused by mutation in MTND1

Any MELAS syndromein which the cause of the disease is a mutation in the MTND1 gene.


mast cell neoplasm

A heterogeneous group of disorders characterized by the abnormal growth and accumulation of mast cells in one or more organ systems. Recent data suggest that most variants of mast cell neoplasms are clonal disorders. (WHO, 2001)


malignant dysgerminomatous germ cell tumor of ovary

Malignant dysgerminomatous germ cell tumor of ovary is the most common form of malignant germ cell tumor of ovary, arising from germ cells in the ovary, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding, and acute abdomen and is characterized by bilaterality (around 10% of cases), association with dysgenetic gonads (5 to 10% of cases), elevated serum lactate dehydrogenase (LDH) and human chorionic gonadotrophin (hCG) (in the presence of syncitiotrophoblasts). Malignant dysgerminomatous germ cell tumor of ovary responds well to chemotherapy, potentially sparing patients from infertility and early mortality.


cataract 37

A cataract that has material basis in variation in the region 12q24.2-q24.3.


DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion


Brazilian hemorrhagic fever

Brazilian hemorrhagic fever, caused by the Sabia virus (a newly discovered arenavirus), is a viral hemorrhagic fever, believed to originate from Sao Paulo, Brazil, with only 3 reported cases (2 of which were due to laboratory accidents) to date, characterized by fever, nausea vomiting myalgia tremors, and hemorragic manifestations such as conjunctival petechia and haematemesis, leading potentially to shock, coma and death.


autosomal dominant nonsyndromic hearing loss 30

An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 15q25-q26.


Pseudomembranous colitis resulting from infection by Corynebacterium diphtheriae.


malignant cornea melanoma

A melanoma within the cornea of the eye.


macular degeneration, age-related, 3

Any age-related macular degeneration in which the cause of the disease is a mutation in the FBLN5 gene.


acquired prothrombin deficiency

An instance of prothrombin deficiency that is acquired during the lifetime of the individual.


Lujo hemorrhagic fever

Lujo hemorrhagic fever, caused by the Lujo virus (a newly discovered Old World arenavirus) is a zoonotic disease from Zambia, Africa, whose reservoir is unknown and is characterized by fever and hemorrhagic manifestations with an extremely high fatality rate of 80% (in the 5 reported cases to date) and a moderate to high level of nosocomial transmission.


intellectual disability, autosomal dominant 10

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CACNG2 gene.


amyotrophic lateral sclerosis type 16

Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SIGMAR1 gene.


Dent disease type 2

Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features.


isolated osteopoikilosis

A osteopoikilosis (disease) that is not part of a larger syndrome.


neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities


GNPTAB-mucolipidosis

An autosomal recessive mucolipidosis disorder caused by bi-allelic variants in the GNPTAB gene. Symptoms of this condition occur across a clinical spectrum including mucolipidosis type II (ML II) and mucolipidosis type III alpha/beta (ML IIIα/β), and phenotypes intermediate between ML II and ML IIIα/β.


epidermolysis bullosa, junctional 5A, intermediate


Pelizaeus-Merzbacher disease in female carriers

Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD in some women carrying mutations in the PLP1 gene (Xq22).


keratosis palmoplantaris striata 2

Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the DSP gene.


asphyxiating thoracic dystrophy 2

Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene.


malignant teratoma

A malignant form of teratoma.


X-linked dominant disease

X-linked dominant form of disease.


ring chromosome 19

Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported.


progressive bulbar palsy of childhood

A progressive bulbar palsy of childhood that occurs during childhood.


wandering spleen

A condition characterized by an abnormal spleen position due to loss, weakness, or malformation of one or more of the ligaments that hold the spleen in its normal position in the left upper abdomen. It may present as a birth defect or follow injuries or pregnancy. Signs and symptoms include abdominal discomfort and splenomegaly.


B-lymphoblastic leukemia/lymphoma with hypodiploidy

A precursor lymphoid neoplasm composed of B-lymphoblasts which contain less than 46 chromosomes. It has an unfavorable clinical outcome.


preeclampsia/eclampsia 4

Any preeclampsia in which the cause of the disease is a mutation in the STOX1 gene.


asynchronous multifocal osteogenic sarcoma

A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered between 6 and 24 months after the appearance of the initial tumor. Patients with asynchronous tumors have a better prognosis than those with synchronous osteosarcomas.


congenital herpes simplex virus infection

Congenital herpes virus infection is a group of anomalies that an infant may present as a result of maternal infection and subsequent foetal infection with herpes virus. This virus causes recurrent cutaneous infections in adults, often involving the lips or the genitalia. Herpes infections in other organs, such as the liver or central nervous system, are less frequent.


extensive peripapillary myelinated nerve fibers


hypercalcemic sarcoidosis

Sarcoidosis with a complication of hypercalcemia.


neurodegeneration with brain iron accumulation 2A

A rare autosomal recessive neurodegenerative disorder caused by mutations in the PLA2G6 gene. It is characterized by the development of swellings called spehroids along the axons of the central nervous system. Signs and symptoms appear early in life and include movement difficulties, muscle hypotonia and spasticity, and dementia.


RAB28-related retinopathy

A retinopathy caused by biallelic variants in the RAB28 gene.


malignant germ cell tumor of cervix uteri

A malignant germ cell tumor that involves the uterine cervix.


spinal accessory nerve neoplasm

A neoplasm involving a accessory XI nerve spinal component.


granulomatous disease, chronic, autosomal recessive, 5


Israeli tick typhus

An infectious disease caused by infection with rickettsia conorii subsp. israelensis.


papular elastorrhexis

An acquired form of collagenoma that appears in childhood. It is characterized by discrete, firm, skin-colored, and slightly elevated cutaneous papules, nodules or plaques that may be generalized, or found on the trunk and the extremities.


chromosome 18 disorder

Chromosomal disorder in which chromosome 18 is affected.


glucose transport disorder

An inherited metabolic disease that is has its basis in the disruption of glucose transport.


spondylometaphyseal dysplasia, Czarny-Ratajczak type


vaginal cancer

A primary or metastatic malignant neoplasm involving the vagina. Representative examples include carcinomas and sarcomas.


muscular dystrophy, limb-girdle, autosomal dominant 4


corneal dystrophy-perceptive deafness syndrome

Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED) with progressive, postlingual sensorineural hearing loss.


lissencephaly with cerebellar hypoplasia

Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (>-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F.


acquired adrenogenital syndrome

An instance of adrenogenital syndrome that is acquired during the lifetime of the individual.


prostate angiosarcoma

A malignant vascular neoplasm arising from the prostate.


indeterminate dendritic cell tumor

A very rare dendritic cell tumor composed of spindle to ovoid cells with a phenotype that is similar to the Langerhans cells. Patients usually present with cutaneous papules, nodules, and plaques. Systemic symptoms are usually absent. The clinical course is variable.


Angelman syndrome due to a point mutation


psoriasis-related juvenile idiopathic arthritis

Childhood arthritis typically associated with psoriasis.


hypoglossia-hypodactyly syndrome

Hanhart syndrome is a rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical abnormalities varies greatly among affected people, and children with this condition often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood. Treatment depends on the signs and symptoms present in each person.


florid cystic endosalpingiosis of the uterus


malposition of the coronary ostium

Malposition of the coronary ostium is a rare coronary artery congenital malformation characterized by displacement of one of the coronary arteries, originating closer to the aortic root or to the commissural area. The anomaly is considered to be asymptomatic, however, it may impose surgical difficulties during aortic root surgery.


caveolinopathy

A group of muscle diseases with basis in CAV3, which encodes caveolin-3, a muscle-specific membrane protein and the principal component of caveolae membrane in muscle cells in vivo. It is the only gene in which pathogenic variants are known to cause caveolinopathies. Sequence analysis identifies pathogenic variants in more than 99% of affected individuals


intellectual disability, X-linked, syndromic, Bain type

An X-linked dominant condition caused by mutation(s) in the HNRNPH2 gene, encoding heterogeneous nuclear ribonucleoprotein H2. It is characterized by delayed psychomotor development, intellectual disability with behavioral abnormalities, and dysmorphic facial features in females.


subclavian artery aneurysm

A subclavian aneurysm is weakness or bulging in the wall of the subclavian artery, which is located below the collarbone. If the aneurysm ruptures, it can cause life-threatening, uncontrolled bleeding. Blood clots caused by the aneurysm can potentially lead to stroke or loss of fingers, the hand or, in rare cases, the entire arm.


philophthalmiasis

A disease caused by infection with Philophthalmus.


intra-abdominal lymph node mast cell malignancy


Summitt syndrome

Summitt syndrome is an extremely rare disorder originally described in two brothers and characterized by mild to severe craniosynostosis and syndactyly, obesity, and normal intelligence. Acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum and marked obesity were later described in another patient. There have been no further descriptions in the literature since 1979. Summitt syndrome could be a variant of Carpenter syndrome.


humero-radio-ulnar synostosis

Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated.


non-gestational choriocarcinoma

A highly malignant choriocarcinoma derived from the non-placental origin such as the totipotent cells in the testis, the ovary, and the pineal gland. It produces high levels of chorionic gonadotropin and can metastasize widely through the bloodstream to the lungs, brain, liver, bone, and other viscera by the time of diagnosis.


heterotaxy, visceral, 5, autosomal

Any visceral hetetotaxy in which the cause of the disease is a mutation in the NODAL gene.


biotin metabolic disease

A deficiency in biotin through either inherited or acquired causes.


retinitis pigmentosa 45

Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGB1 gene.


acute sphenoidal sinusitis

Acute form of sphenoid sinusitis.


dermo-odonto dysplasia

Dermo-odonto dysplasia belongs to the group of tricho-odonto-onychial dysplasias. It is characterised by signs of variable severity: dry and thin skin, dental anomalies, nail alteration and trichodysplasia. Fourteen cases have been described so far. Autosomal dominant transmission is likely.


neuroectodermal-endocrine syndrome

Neuroectodermal-endocrine syndrome is characterised by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar.


A lipodystrophy characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance.


hereditary spastic paraplegia 46

A rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase.


Löfgren syndrome

A sarcoidosis characterized by the triad of erythema nodosum, bilateral hilar lymphadenopathy on chest radiograph, and joint pain.


tendon sheath disorder

A disease that involves the tendon sheath.


autosomal dominant nonsyndromic hearing loss 3A

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB2 gene.


dysbaric osteonecrosis

A form of avascular necrosis where there is death of a portion of the bone that is thought to be caused by nitrogen embolism.


frontofacionasal dysplasia

Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes).


autosomal recessive distal osteolysis syndrome

Autosomal recessive distal osteolysis syndrome is an early-onset distal osteolysis characterised by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait.


dedifferentiated solitary fibrous tumor

A solitary fibrous tumor characterized by the presence of areas of abrupt transition to high grade sarcoma.


neuronopathy, distal hereditary motor, type 2D

Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the FBXO38 gene.


hemimelia

Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia. Hemimelia ranges in severity.


qualitative or quantitative defects of telethonin


partial duplication of the long arm of chromosome 7

Chromosome 7q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 7. 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 7q 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.


myoclonic encephalopathy in non-progressive disorder

This group of epilepsies are typically is characterized by onset of seizures from day 1 of life to 5 years (peak 12 months). Both sexes are affected, however the male to female ratio is 1:2. Antecedent (including birth) history, head size, neurological and developmental findings reflect the underlying cause (if known). Myoclonic status epilepticus is often the initial presenting seizure type, however other initial seizure types may also occur. Prognosis is unfavorable with severe neurological and developmental impairments typically seen.


nerve root neoplasm

Benign and malignant neoplasms arising from one or more of the cervical, thoracic, lumbar, sacral, or coccygeal nerve roots. The majority of these tumors are benign. Clinical manifestations may include pain, weakness and loss of sensation along the course of the involved nerve root. Large tumors may cause spinal cord compression.


dysostosis with brachydactyly without extraskeletal manifestations


transient congenital hypothyroidism due to neonatal factor


hereditary sensory and autonomic neuropathy type 6

Any hereditary sensory and autonomic neuropathy in which the cause of the disease is a mutation in the DST gene.


classic Hodgkin lymphoma, nodular sclerosis type


skin fragility-woolly hair-palmoplantar keratoderma syndrome


2-methylacetoacetyl CoA thiolase deficiency


Hodgkin's lymphoma, mixed cellularity

A subtype of classical Hodgkin lymphoma with scattered Reed-Sternberg and Hodgkin cells in a diffuse or vaguely nodular mixed inflammatory background without nodular sclerosing fibrosis. (WHO, 2008)


spinocerebellar ataxia type 17

A rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.


epulis

A non-neoplastic nodular lesion that arises from the gingiva.


atypical glycine encephalopathy

Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE.


prostate leiomyosarcoma

An aggressive malignant smooth muscle neoplasm, arising from the prostate. It is characterized by a proliferation of neoplastic spindle cells.


glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form


craniotelencephalic dysplasia

Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983.


nemaline myopathy

Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy.


mononeuritis simplex

Neuritis of a single nerve.


petroclival meningioma

A meningioma that affects the petroclival region.


dendritic cell tumor

A dendritic cell tumor develops from the cells of the immune system. This condition typically begins in the lymph system and may spread to nearby organs or distant parts of the body (metastasize). There are five subtypes of dendritic cell tumors: follicular dendritic cell tumor, interdigitating dendritic cell tumor, Langerhans' cell histiocytosis, Langerhans' cell sarcoma, and dendritic cell sarcoma not specified otherwise. The symptoms and severity of the condition depend on the subtype and location of the tumor. Treatment may include surgery, radiation therapy, and/or chemotherapy.


ataxia - telangiectasia variant

Ataxia-telangiectasia variant is a rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present.


intellectual developmental disorder, autosomal dominant 65


autosomal recessive nonsyndromic hearing loss 20

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11q25-qter.


hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency


Dandy-Walker malformation-postaxial polydactyly syndrome

Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals.


monoclonal paraproteinemia disease

A disease characterized by the presence of excessive amounts of paraprotein or single monoclonal gammaglobulin in the blood. It is usually due to an underlying immunoproliferative disorder or hematologic neoplasms, especially multiple myeloma.


benign neoplasm of choroid

A benign neoplasm that involves the optic choroid.


intravascular papillary endothelial hyperplasia

A reactive, well-circumscribed vascular lesion. It is characterized by the formation of thin papillae projecting within the lumen of blood vessels. The papillae are lined by plump endothelial cells. Blood clots are also present.


malignant soft tissue neoplasm

A malignant neoplasm arising exclusively from the soft tissues.


metaphyseal dysostosis-intellectual disability-conductive deafness syndrome

Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterised by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive.


fetal akinesia-cerebral and retinal hemorrhage syndrome

Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5

Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RRM2B gene.


infectious meningitis

Inflammation of the meninges of the brain and/or spinal cord caused by an infectious agent (viral, bacterial, or fungal). Symptoms include headache, fever, vomiting, neck stiffness, photophobia, confusion, and seizures.


skin disorder caused by infection

Skin diseases caused by bacteria, fungi, parasites, or viruses.


cap myopathy

Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.


spinal muscular atrophy, facioscapulohumeral type


mesoblastic nephroma

A solid, unencapsulated tumor of the kidney composed of spindle mesenchymal cells that resemble fibroblasts or muscle cells. The homogeneous mass typically extends into the renal parenchyma and replaces most of the kidney. In most cases, mesoblastic nephroma is benign and occurs in the fetus or newborn, and rarely in the older child or the adult.


acquired sensory ganglionopathy

An instance of sensory ganglionopathy that is acquired during the lifetime of the individual.


broad ligament malignant neoplasm

A malignant neoplasm involving the broad ligament of uterus.


leiomyoma

A well-circumscribed benign smooth muscle neoplasm characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


optic atrophy with demyelinating disease of CNS


corneal-cerebellar syndrome

A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985.


toxemia of pregnancy

A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria.


nephrotic syndrome, type 6

Any nephrotic syndrome in which the cause of the disease is a mutation in the PTPRO gene.


glycosylphosphatidylinositol biosynthesis defect 15

A rare, genetic, syndromic intellectual disability characterized by global developmental delay, early-onset seizures, cerebellar atrophy, osteopenia, nystagmus and dysmorphic facial features, including bitemporal narrowing, prominent forehead, anteverted nares. Dysarthria, dysmetria, ataxic gait, spasticity and dysmorphic features have also been associated.


progressive retinal dystrophy due to retinol transport defect


myopathy, lactic acidosis, and sideroblastic anemia 1

Any myopathy, lactic acidosis, and sideroblastic anemia in which the cause of the disease is a mutation in the PUS1 gene.


3M syndrome 1

Any 3-M syndrome in which the cause of the disease is a mutation in the CUL7 gene.


skeletal muscle neoplasm

A benign or malignant mesenchymal neoplasm arising from skeletal muscle.


carbohydrate metabolism disease

A disease that has its basis in the disruption of carbohydrate metabolic process.


hypersensitivity vasculitis

A small vessel vasculitis affecting the skin and/or internal organs. It is characterized by the presence of neutrophils and fibrinoid necrosis in small arteries and venules. It may be idiopathic or the result of drug treatment, infections, food intake, collagen vascular disorders, inflammatory bowel disease, or cancer.


16p13.11 microdeletion syndrome

16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems.


adult lymphoma

A lymphoma that occurs in an adult.


posthitis

An inflammatory disease involving a pathogenic inflammatory response in the prepuce of penis.


telangiectatic osteogenic sarcoma

An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of a cystic architecture with blood-filled spaces. The prognosis is similar to that of conventional osteosarcoma.


dermatitis herpetiformis, familial

Dermatitis herpetiformis is a rare, chronic, skin disorder characterized by groups of severely itchy blisters and raised skin lesions. These are more common on the knees, elbows, buttocks and shoulder blades. The slow onset of symptoms usually begins during adulthood, but children can also be affected. Other symptoms mayinclude fluid-filled sores; red lesions that resemble hives; and itchiness, rednessand burning. The exact cause of this disease is not known,but it is frequently associated with the inability to digest gluten. People with this disease are typically treated with the drug dapsone.


congenital myopathy 4B, autosomal recessive

Any congenital myopathy in which the cause of the disease is a mutation in the TPM3 gene.


Hartnup disease

Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).


melanocytic neoplasm

A benign or malignant, primary or metastatic neoplasm affecting the melanocytes.


myocardial disorder

A disorder that affects the muscle tissue of the heart. Representative examples include myocardial infarction, myocarditis, and cardiomyopathy.


sweat gland cancer

A malignant neoplasm that affects the sweat glands.


malignant dermis tumor

A malignant neoplasm involving the dermis.


necrotizing encephalomyelopathy, subacute, of Leigh, adult


glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form


carbohydrate transport disease

A disease that has its basis in the disruption of carbohydrate transport.


unilateral retinoblastoma

A retinoblastoma that only involves a single eye.


mixed cell uveal melanoma

A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells.


autosomal dominant nonsyndromic hearing loss 53

An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 14q11.2-q12.


congenital insensitivity to pain-hypohidrosis syndrome

A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has material basis in homozygous mutation in the PRDM12 gene on chromosome 9q34.


microphthalmia, isolated, with coloboma 6


hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism

Any amelogenesis imperfecta in which the cause of the disease is a mutation in the DLX3 gene.


autosomal dominant spondylocostal dysostosis

Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.


hereditary spastic paraplegia 77

Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated.


autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD

Any autoimmune lymphoproliferative syndrome in which the cause of the disease is a mutation in the PRKCD gene.


hereditary spastic paraplegia 6

Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.


angular blepharoconjunctivitis

A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area.


disorder of folate metabolism and transport


coenzyme Q10 deficiency

A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency.


Angelman syndrome due to paternal uniparental disomy of chromosome 15


hereditary spastic paraplegia 39

This syndrome is characterised by progressive spastic paraplegia and distal muscle wasting.


acquired kinky hair syndrome

Acquired progressive kinking of the hair (APKH) is a rare hair disorder characterized by the appearance of lustreless, curly, frizzy, and coarse hair generally during adolescence predominantly in the frontal, temporal, and vertex regions of the scalp. Eyelashes, as well as growth and pigmentation of the hair, may also be affected.


drug-induced lupus erythematosus

An autoimmune disorder, similar to systemic lupus erythematosus, that is caused by certain drugs.


thrombophilia due to protein C deficiency, autosomal recessive


autosomal recessive nonsyndromic hearing loss 1B

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene.


limbic encephalitis with DPP6 antibodies


circadian rhythm sleep disorder

A persistent or recurrent pattern of sleep disruption that is primarily due to an alteration of the circadian system or to a misalignment between the endogenous circadian rhythm and the sleep-wake schedule required by an individual's physical environment or social or professional schedule.(DSM IV)


hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome


linear skin defects with multiple congenital anomalies 2

Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the COX7B gene.


split hand, bilateral

Split hand, bilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age.


pontocerebellar hypoplasia, type 1C

Any pontocerebellar hypoplasia type 1 in which the cause of the disease is a mutation in the EXOSC8 gene.


autosomal recessive nonsyndromic hearing loss 93

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CABP2 gene.


arbovirus infection

A viral infection that is transmitted by an arthropod.


facial onset sensory and motor neuronopathy

Facial onset sensory and motor neuronopathy is characterised initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease.


hypogonadotropic hypogonadism 12 with or without anosmia

A hypogonadotropic hypogonadism that has material basis in homozygous mutation in the GNRH1 gene on chromosome 8p21.


holoprosencephaly 9

Any holoprosencephaly in which the cause of the disease is a mutation in the GLI2 gene.


tuberculous pneumothorax

A pneumothorax in which air enters into the pleural cavity.


hereditary spastic paraplegia 57

An extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function.


craniometadiaphyseal dysplasia, wormian bone type

Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted.


late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome


paternal uniparental disomy of chromosome 20

Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b testing and have UPD involving variable segments of the long arm of chromosome 20.


schizophrenia 15

A schizophrenia that has material basis in a mutation of SHANK3 on chromosome 22q13.33.


cutaneous collagenous vasculopathy

Cutaneous collagenous vasculopathy (CCV) is a primary microangiopathy confined to the skin, characterized by multiple and widespread telangiectasias.


traumatic brain injury

A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head.


middle cranial fossa meningioma

A meningioma that affects the middle cranial fossa.


non-syndromic polydactyly, syndactyly and/or hyperphalangy


dentin sensitivity

Pain or discomfort caused by exposure of the dentin layer of tooth to thermal, tactile, or other stimuli.


cyclothymic disorder

An affective disorder characterized by periods of depression and hypomania. These may be separated by periods of normal mood.


neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures


Alzheimer disease 11

An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1.


nonsyndromic genetic hearing loss

A disease characterized by hearing loss that is not part of a larger syndrome.


benign lymphoepithelial lesion of salivary gland

A benign lesion that involves the salivary glands, usually the parotid gland. It affects females more often than males and it may be a manifestation of autoimmune diseases such as Sjogren syndrome. There is an increased incidence of benign lymphoepithelial lesions in HIV-positive patients. It is characterized by the presence of a marked lymphocytic infiltrate and epi-myoepithelial islands in the affected salivary gland. Patients usually present with firm and painless swelling of the affected salivary gland. There is an increased risk for development of lymphoma.