Phenotype #0000239652
| Individual ID |
00315906 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental disorder |
| Diagnosis/Definite |
GAND |
| Phenotype details |
birth 38w; birth weight 2980g, length 48.5cm, OFC 35cm; weight 0 SD, height −1 SD, OFC 2 SD; neonatal hypotonia; motor delay; 13m-sit; 29m-walk; speech delay; 18m-first words; moderate intellectual deficiency; behavioral problems; no feeding difficulties; no sleep disorder; constipation; no deafness; no vision disorder; no strabismus; no macrocephaly; dysmorphic features; broad forehead; narrow palpebral fissures; deeply set eyes; no hypertelorism; no periorbital fullness; ear anomalies; no large/prominent nose; no tubular shaped nose; wide nasal base; no short philtrum; no broad mouth; no downturned mouth; no thin upper lip; pointed chin; no blond hair; no thin hair; hands/feet anomalies; no long fingers; no clinodactyly |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
4y5m (4 years, 5 months) |
| Age/Diagnosis |
5y |
| 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 |
2020-10-30 10:06:36 +01:00 (CET) |
| Date last edited |
N/A |
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