/neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies

neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies

MONDO:0032849

Also Known As

Halperin-Birk syndromeNEDSOSBNEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES

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Gene data from MyGene.info • Click to view on NCBI Gene

microcephaly and chorioretinopathy

MONDO:0000181

microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability

MONDO:0007918

autosomal dominant primary microcephaly

MONDO:0007988

Prader-Willi syndrome

MONDO:0008300

Smith-Magenis syndrome

MONDO:0008434

microcephalic osteodysplastic primordial dwarfism type I

MONDO:0008871