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Metadata
ID	DOID:0112290
Name	spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis
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. https://pubmed.ncbi.nlm.nih.gov/32533184/, https://pubmed.ncbi.nlm.nih.gov/33668384/
Xrefs	MIM:619260
Synonyms	SHILCA syndrome [EXACT]
Parent Relationships	is_a syndrome is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance