Phenotype #0000242256
| Individual ID |
00320210 |
| Associated disease |
? |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Phenotype details |
birth 38w, weight 3,080 g (−0.5 z), length 50 cm (−0.5 z); 13y-weight 66.4 kg (+1.5 z), height 160 cm (+0.1 z); no perinatal complications; mild to moderate developmental delay/intellectual disability; mild muscular hypotonia; delayed motor development; delayed speech, impaired articulation, speaks sentences; no seizures; MRI delayed myelination; pectus excavatum; genu valgum; broad thumbs and toes; prominent fingertip pads; right clubfoot; bilateral pes planovalgus (arthrodesis); camptodactyly of toes II-V on the right and of toe V on the leftt; babygram small femoral epiphysis; normal spine; unilateral renal agenesis with megaureter and hypoactivity of musculus detrusor; cryptorchidism; normal hearing; mild myopia; normal feeding; coarse face; upslanted palpebral fissures; broad nasal tip; wide mouth; full lips; deep philtrum; small teeth; constipation; two additional nipples |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
14y (14 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Tumor/MSI |
- |
| Diagnosis/Criteria |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2020-11-24 10:36:20 +01:00 (CET) |
| Date last edited |
N/A |
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