Conditions / Syndrome
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis
info · Syndrome
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 NMNA
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.
Signs and symptoms
- Delayed CNS myelination
- Short stature
- Macular geographic atrophy
- Coarse facial features
- Brain atrophy
- Widened cerebellar subarachnoid space
- High hypermetropia
- Macular atrophy
- Spondyloepiphyseal dysplasia
- Undetectable electroretinogram
Also known as: SHILCA syndrome