Phenotype #0000345751
| Individual ID |
00457258 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., gestational maternal diabetes, birth 41w, C-section, weight 3315 g (25%), height 52 cm (62%); no neonatal jaundice; 2y-sit; 32m-walk; 2y-two words; global developmental delay; thick eyebrows; no hypotelorism, no hypertelorism; upslanting palpebral fissures; no strabismus; no ptosis; no thin upper lip; tented mouth; everted lower lip; micrognathia; open mouth; Bilateral epicanthal folds, long lashes, depressed nasal bridge, bifid, short and wide columella, prominent fetal pads, 5th finger, bilateral clinodactyly, prominent heels; intellectual disability; hypotonia; noraml cranial nerves; normal motor strength; normal sensory exam; normal reflexes; no movement abnormalities; hand twisting; no seizures; no hepatomegaly; no liver dysfunction; intractable itching (pruritus); no recurrent pancreatitis; feeding difficulty; no gastresophageal reflux; no steatorrhea; no chronic diarrhea; no gallstones; no gastrostomy tube; no undescended testicles; no recurrent respiratory infections; no recurrent skin infections; |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
2y (2 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 |
2024-11-04 09:10:12 +01:00 (CET) |
| Date last edited |
N/A |
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