Phenotype #0000239658
| Individual ID |
00315912 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental disorder |
| Diagnosis/Definite |
GAND |
| Phenotype details |
birth 41w; birth weight 4100g, length 52cm, OFC 36cm; weight −0.8 SD, height −1.5 SD, OFC +1.5 SD; neonatal hypotonia; motor delay; 18m-sit; 3y-walk; speech delay; 4y-first words; moderate/severe intellectual deficiency; no behavioral problems; no feeding difficulties; no sleep disorder; no constipation; no deafness; no vision disorder; strabismus; MRI brain abnormalities, white matter signal, myelination delay, no ventriculomegaly enlarged CSF space; no macrocephaly; no dysmorphic features; broad forehead; narrow palpebral fissures; no deeply set eyes; hypertelorism; no periorbital fullness; no ear anomalies; no large/prominent nose; no tubular shaped nose; no wide nasal base; short philtrum; no broad mouth; no downturned mouth; no thin upper lip; blond hair; no thin hair; no hands/feet anomalies; no long fingers; no clinodactyly |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
8y10m (8 years, 10 months) |
| Age/Diagnosis |
8y |
| 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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