Phenotype #0000296513
| Individual ID |
00403833 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
normal pregnancy and birth, birth 40w, weight 3800g; weight 48.3 kg (25th percentile), height 127 cm (< 3rd percentile), OFC 55 cm (50th percentile); delayed motor development; rarely smiles; roll delayed; 1y5m-sit; 23m-walk; 14m-speech; no regression; intellectual disability; IQ not assessable; mild autism (DSM-IV score 95); sometimes aggressive behavior; mild hypotonia (no improvement with age); no ataxia; normal fine reflexes; balance issue, can not walk without aid; 22-23m-epilepsy, generalized tonic seizures (1/m), trigger headache; EEG normal; normal sleep; MRI brain normal; microcytic anemia; normal vision; no hearing loss; normal skin; mild dysmorphism; normal sclera, mild hypertelorism; normal nose; normal philtrum; normal mouth; normal lips; normal jaw; normal palate; normal chin; low-set ears; unremarkable joint laxity; scoliosis; unremarkable hands/feet; Disease progression is stable |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
15y (15 years) |
| Age/Diagnosis |
- |
| 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 |
2022-02-24 15:46:26 +01:00 (CET) |
| Date last edited |
N/A |
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