Phenotype #0000335920
| Individual ID |
00446718 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
GDACCF |
| Phenotype details |
see paper; ..., birth 38w; respiratory distress, perinatally; no fetal hydrops/edema; no failure to thrive; spasticity distally on upper limbs; no hypotonia; 2d-fever; no sketelal anomalies; camptodactyly, mild bilateral interdigital webbing, mild clinodactyly V of hands; no corpus callosum agenesis/hypoplasia; no seizures, EEG normal; delayed motor development, 19m-walk; intellectual disability (IQ45); speech delay; mil behavioural problems, shyness, attention deficit; ophthalmological problems; no hearing problems; hypertelorism, vertically narrow palpebral fissures, left ptosis; normal shape face; broad, square chin; nose broad nasal base, anteverted nares, mildly hypoplastic alae nasi; open mouth, long and smooth philtrum, thick lower lip; large upper frontal middle incisors; ears small, 5.5 cm; no hair/skin/nail anomalies; shawl scrotum |
| Inheritance |
Familial, autosomal dominant |
| Age/Examination |
8y11m (8 years, 11 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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