Phenotype #0000337374
| Individual ID |
00448160 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental disorder |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., birth 36w Ceasarean section (poor movement); bilateral SNHL (aids-->cochlear implants); optic nerve damage initially throught to be from intracerebral haemorrhage (5y), wears spectacles, 10y-further dterioration with optic atrophy; developmental motor delay; 2y-walk; poor fine motor difficulties, SARA score of 11 (mild incoordination); developmental delay language; 2y-first words; 9y-10-speak in sentences, still limited; Autistic traits; no ADHD; no sleep abnormalities; special education; nephrocalcinosis; 4y/11y-MRI brain macrocephaly, bilateral subdural hygroma resolution, slim corpus callosum, generalized lack of white matter, multiple enlarged perivascular spaces, mega cisterna magna; ; no parathyroid adenoma; no sarcoma; hypotonia; seizures as baby, now occasional abscences; dysmorphic features; downslanting palpebral fissures; depressed nasal bridge; frontal bossing ; high arched palate; macrocepahly; hypospadias; inguinal hernia; tapering fingers |
| Inheritance |
Familial, X-linked |
| Age/Examination |
13y10m (13 years, 10 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 |
2024-02-21 16:36:37 +01:00 (CET) |
| Date last edited |
N/A |
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