Phenotype #0000335910
| Individual ID |
00446708 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
GDACCF |
| Phenotype details |
see paper; ..., birth 34w+1; no respiratory distress; no fetal hydrops/edema; failure to thrive; no spasticity extremities; no hypotonia; no recurrent infections; no renal anomalies; no cardiac defect; no sketelal anomalies; no limb malformation; no seizures, EEG normal; delayed motor development, 25m-walk; mild intellectual disability (IQ 70); speech delay; no behavioural problems; no ophthalmological problems; no hearing problems; no altered sensation pain/heat/smell/touch; mildly upslanted eyes; normal shape face; prominent chin, prognathia; nose broad nasal tip, long columella; small mouth, protruding tongue, thin upper and full lower lip; delayed dentition, cone- shaped front lower incisors; normal ears; sparse, fair hair; no haematological problems; normal genitals |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
2y8m (2 years, 8 months) |
| 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 |
2024-01-22 13:14:03 +01:00 (CET) |
| Date last edited |
N/A |
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