Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis

Preferred Label : Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis;

Symbol : SHILCA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Shilca syndrome;

Prefixed ID : #619260;

Details

Origin ID

619260;

UMLS CUI

C5543257;

Automatic exact mappings (from CISMeF team)
- Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome [ORDO Disease]
Genes related to phenotype
- Nicotinamide nucleotide adenylyltransferase 1 [OMIM gene]
HPO term(s)
- Abnormal auditory evoked potentials [HPO term]
- Ataxia [HPO term]
- Attenuation of retinal blood vessels [HPO term]
- Autosomal recessive inheritance [HPO term]
- Biconcave vertebral bodies [HPO term]
- Brain atrophy [HPO term]
- CNS hypomyelination [HPO term]
- Cataract [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Cervical myelopathy [HPO term]
- Coarse facial features [HPO term]
- Delayed CNS myelination [HPO term]
- Delayed ability to walk [HPO term]
- Delayed skeletal maturation [HPO term]
- Depressed nasal bridge [HPO term]
- Dyskinesia [HPO term]
- Exotropia [HPO term]
- Geographic atrophy [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- High hypermetropia [HPO term]
- High myopia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Irregular dentition [HPO term]
- Irregular epiphyses [HPO term]
- Leukoencephalopathy [HPO term]
- Macular atrophy [HPO term]
- Macular coloboma [HPO term]
- Nystagmus [HPO term]
- Optic disc pallor [HPO term]
- Os odontoideum [HPO term]
- Retinal degeneration [HPO term]
- Scoliosis [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short stature [HPO term]
- Spondyloepiphyseal dysplasia [HPO term]
- Synophrys [HPO term]
- Tetraparesis [HPO term]
- Undetectable electroretinogram [HPO term]
- Visual impairment [HPO term]
- Wide mouth [HPO term]
- Widened cerebellar subarachnoid space [HPO term]
ORDO concept(s)
- Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients