preferred_name: Halperin-Birk syndrome
preferred_name_lc: halperin-birk syndrome
label: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES
label_lc: neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies