Phenotype #0000186538
| Individual ID |
00246694 |
| Associated disease |
GAND;MRD18 |
| Phenotype details |
birth 41+2w; birth weight 4000g, length 54.5cm, OFC 37cm; weight +1.5 SD, height 2 SD, OFC +3.4 SD; no neonatal hypotonia; global developmental delay (HP:0001263); motor delay; 14m-sit; 22m-walk; speech delay (HP:0002463); 18m-first words; moderate intellectual deficiency; behavioral problems; no feeding difficulties; no sleep disorder; no constipation; no deafness; vision disorder; no strabismus; MRI brain abnormalities, white matter signal, myelination delay, ventriculomegaly enlarged CSF space; macrocephaly (HP:0000256); dysmorphic features; broad forehead; no narrow palpebral fissures; deeply set eyes (HP:0000490); hypertelorism; periorbital fullness; ear anomalies; no large/prominent nose; no tubular shaped nose; wide nasal base; no short philtrum; broad mouth (HP:0000154); no downturned mouth; thin upper lip; pointed chin; no blond hair; no thin hair; hands/feet anomalies; long fingers; no clinodactyly; ataxia (HP:0001251); dystonia (HP:0001332) |
| Diagnosis/Initial |
HP:0002342 Intellectual disability, moderate |
| Inheritance |
Isolated (sporadic) |
| Diagnosis/Definite |
GAND |
| Age/Examination |
- |
| Age/Diagnosis |
14y |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Birth_Details |
- |
| Protein |
- |
| Owner name |
Emanuela Leonardi |
| Database submission license |
Creative Commons Attribution-NonCommercial 4.0 International |
| Created by |
Emanuela Leonardi |
| Date created |
2019-07-16 15:46:07 +02:00 (CEST) |
| Date last edited |
2020-10-30 10:02:49 +01:00 (CET) |
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