Phenotype #0000345758
| Individual ID |
00457265 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., diabetic mother, no postnatal complication of diabetes , birth 38w, C-section, weight 3000 g (14%), height 34 cm (18%), OFC 55 cm (96%); no neonatal jaundice; never sat; never walked; 21m-two words; global developmental delay; arched eyebrows; hypertelorism; normal palpebral fissures; no strabismus; no ptosis; prominent philtrum; no thin upper lip; tented mouth; everted lower lip; no micro-/retro-/pro-gnathia; open mouth; frontal bossing, high arched palate; intellectual disability; hypotonia; noraml cranial nerves; normal motor strength; normal reflexes; dystonia, back arching; no seizures; no liver dysfunction; no intractable itching (pruritus); no recurrent pancreatitis; feeding difficulty; no steatorrhea; no chronic diarrhea; no gallstones; no gastrostomy tube; no recurrent respiratory infections; no recurrent skin infections; MRI brain persistent benign enlargement of subarachnoid spaces in infancy, paucity of occipital white matter and squaring of occipital horns of lateral ventricles (sequelae of PVL); |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
1y9m (1 year, 9 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 |
2024-11-04 09:10:12 +01:00 (CET) |
| Date last edited |
N/A |
|
