Phenotype #0000337358
| Individual ID |
00448144 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental disorder |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., birth 32w+4 Ceasarean section (severe pre-eclampsia); moderate SNHL; hyperopia and astigmatism; developmental motor delay; 3y6m-walk; fine motor difficulties; developmental delay language; >2y-first words, 3y-2 word phrases; does not speak in sentences, sign language with some words; no autism; no ADHD; play by himself, intolerance to frustration, some anger; no sleep abnormalities; heterogeneous cognitive profile, not possible to calculate total IQ, weak intellectual abilities, 7y-mild intellectual disability; special education; ECG repolarization abnormalities, normal echocardiography; horseshoe kidney, Oxaluria > nephrocalcinosis Left pyelectasis (prenatal); neonatal feeding difficulties (G tube) esophagitis constipation; ipoma; no parathyroid adenoma; no sarcoma; hypotonia; no seizures; low set ears, pointed chin, smooth philtrum, thin upper lip; low set ears; bulging eyes; pointed chin; wide mouth, smooth philtrum, thin upper lip; broad eyebrows medially; hypospadias; bilateral inguinal hernia; squared finger tips, abnormal creases in feet, deep seated nails, joint hypermobility; astham, thoracid kyphosis; oxaluria, ear tubes for recurrent otitis media; cortisol deficiency in infancy (resolved) |
| Inheritance |
Familial, X-linked |
| Age/Examination |
11y1m (11 years, 1 month) |
| 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 |
2024-02-21 16:36:37 +01:00 (CET) |
| Date last edited |
N/A |
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