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Human Disease

spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis

Term ID
DOID:0112290
Synonyms
  • SHILCA syndrome
Definition
A syndrome characterized by early-onset retinal degeneration, sensorineural hearing loss, short stature, vertebral anomalies, epiphyseal dysplasia, and motor and intellectual delay that has_material_basis_in homozygous or compound heterozygous mutation in NMNAT1 on chromosome 1p36.22. (2)
References
Ontology
Human Disease   ( DOID:0112290 )
Relationships
is a type of
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Genes Involved
Zebrafish Models