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

• MIM:619260

Ontology

Human Disease   ( DOID:0112290 )