Phenotype #0000357235
| Individual ID |
00472425 |
| Associated disease |
HL |
| Phenotype details |
see paper; ..., pregnancy small weight; hypotonia; <9m-sit; 19m-walk, mtor delay; slight balance troubles; no tremor; no dysmetria; no dysarthria; 2y-uncomplicated febrile seizure, 3y-uncomplicated febrile seizure; delayed language; intellectual disability (probably related to RNU4-2 pathogenic variant); normal behavior; learning difficulties; mild bilateral deafness; normal ears; no ophthalmological anomalies; 4y9m-MRI brain short mesencephalon, pontine hypoplasia with hyposignal T1, anteroposterior flattening medulla, vermian hypoplasia, slight hypoplasia cerebellar hemispheres, bilateral hypoplasia cochlear nerve with hypoplastic internal auditory canal, normal cochlea, normal semi-circular canal |
| Diagnosis/Initial |
hearing loss |
| Inheritance |
Familial, autosomal dominant |
| Diagnosis/Definite |
- |
| Age/Examination |
4y5m (4 years, 5 months) |
| Age/Diagnosis |
- |
| Age/Onset |
1y |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2026-02-12 09:41:25 +01:00 (CET) |
| Date last edited |
N/A |
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