Phenotype #0000345752
| Individual ID |
00457259 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., no prenatal issues, birth 41w+5, labor induction, vaginal delivery, weight 4675 g (+2.3 SD), height 55 cm (96%), 38 cm (94%); no neonatal jaundice; 2y-sit; not yet walking; no speech; global developmental delay; no hypotelorism, no hypertelorism; normal palpebral fissures; no strabismus; ptosis; prominent philtrum; no thin upper lip; tented mouth; no everted lower lip; no micro-/retro-/pro-gnathia; Broad forehead, broad nasal bridge/tip, hypermobility; intellectual disability; hypotonia; weak motor strength; normal reflexes; no movement abnormalities; weak social interaction, autistic features; no seizures; increased echo on liver ultrasound; no liver dysfunction; intractable itching (pruritus); no recurrent pancreatitis; feeding difficulty; no gastresophageal reflux; no steatorrhea; no chronic diarrhea, chronic obstipation; gallstones; no gastrostomy tube; MRI brain ventricular system mildly marked, otherwise nothing pathological; beta-thalassemia minor, F-Calpotectin 121 |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
2y6m (2 years, 6 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 |
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