Phenotype #0000321932
| Individual ID |
00431332 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
NEDHFS |
| Phenotype details |
see paper; ..., global development delay; intellectual disability; 7y-sit/stand with support, no targeted hand activity; severe, no verbal language; normal behavior; neurologic features; shifting tonus, with hypertonia; no muscle weakness; no seizures; no pyramidal signs; no ataxia; MRI symmetric infra/supra tentorial parenchymal anomalies, signal changes lower cerebellar hemispheres, nucleus lentiformis and scattered on the verge between cortex white matter; large earlobes; normal eyes; high arched narrow palate; prominent nose, flat philtrum; no thin upper lip; pointy chin; normal teeth; skin abnormalities; dry skin, keratosis pilaris; normal hair growth; exotropia; hypermetropia; normal vision; no gastro-intestinal abnormalities; no swallowing difficulties; no obesity; normal extremities; normal joints; normal hands/feet |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
7y (7 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2023-02-08 20:43:15 +01:00 (CET) |
| Date last edited |
N/A |
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