Phenotype #0000239662
| Individual ID |
00315916 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental disorder |
| Diagnosis/Definite |
GAND |
| Phenotype details |
birth 39w; birth weight 3350g, length 50cm; weight +0.58 SD, height −0.64 SD, OFC +1.72 SD; neonatal hypotonia; motor delay; 11m-sit; 2y6m-walk; speech delay; moderate/severe intellectual deficiency; behavioral problems; feeding difficulties; no sleep disorder; no constipation; deafness; no vision disorder; strabismus; MRI brain abnormalities, white matter signal, myelination delay, no ventriculomegaly enlarged CSF space; mild macrocephaly; dysmorphic features; broad forehead; narrow palpebral fissures; no deeply set eyes; hypertelorism; no periorbital fullness; ear anomalies; no large/prominent nose; no tubular shaped nose; wide nasal base; no short philtrum; broad mouth; downturned mouth; no thin upper lip; pointed chin; blond hair; no thin hair; no hands/feet anomalies; no long fingers; no clinodactyly |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
5y6m (5 years, 6 months) |
| Age/Diagnosis |
4y2m |
| 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 |
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|
