CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURALHEARING LOSS, AND SKELETAL DYSPLASIA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 16
OrphanetNr:
OMIM Id: 616007
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000343) Long philtrum 262 / 7739
2
 (HPO:0005280) Depressed nasal bridge 381 / 7739
3
 (HPO:0000518) Cataract 454 / 7739
4
 (HPO:0000639) Nystagmus 555 / 7739
5
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
6
 (HPO:0001265) Hyporeflexia 208 / 7739
7
 (HPO:0002936) Distal sensory impairment 96 / 7739
8
 (HPO:0001270) Motor delay 322 / 7739
9
 (HPO:0007141) Sensorimotor neuropathy 27 / 7739
10
 (HPO:0000824) Growth hormone deficiency 56 / 7739
11
 (HPO:0000938) Osteopenia 138 / 7739
12
 (HPO:0001371) Flexion contracture 220 / 7739
13
 (HPO:0002650) Scoliosis 705 / 7739
14
 (HPO:0003416) Spinal canal stenosis 28 / 7739
15
 (HPO:0001374) Congenital hip dislocation 51 / 7739
16
 (HPO:0004322) Short stature 1232 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: