Phenotype #0000239664
| Individual ID |
00315918 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental disorder |
| Diagnosis/Definite |
GAND |
| Phenotype details |
birth 41w; birth weight 3400g, length 51cm, OFC 36cm; weight −1.75 SD, height −0.68 SD, OFC +2.45 SD; no neonatal hypotonia; motor delay; 21m-sit; 4y-walk; speech delay; severe intellectual deficiency; no behavioral problems; feeding difficulties; no sleep disorder; no constipation; no deafness; strabismus; MRI brain abnormalities, white matter signal, myelination delay, no ventriculomegaly enlarged CSF space; macrocephaly; dysmorphic features; broad forehead; narrow palpebral fissures; deeply set eyes; hypertelorism; no periorbital fullness; no ear anomalies; no large/prominent nose; no tubular shaped nose; wide nasal base; no short philtrum; no broad mouth; no downturned mouth; thin upper lip; no pointed chin; blond hair; thin hair; no hands/feet anomalies; no long fingers; no clinodactyly |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
4y4m (4 years, 4 months) |
| Age/Diagnosis |
4y |
| 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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