Phenotype #0000258542
| Individual ID |
00363176 |
| Associated disease |
WARBM |
| Diagnosis/Initial |
Warburg Micro Syndrome |
| Diagnosis/Definite |
WARBM1 |
| Phenotype details |
no intra-uterine growth retardation; postnatal growth retardation; birth OFC 50-75th centile; postnatal microcephaly; no seizures; EEG normal; severe developmental delay; truncal hypotonia; spastic cerebral palsy; no congenital contractures; no speech; not walking; feeding difficulties; MRI brain delayed myelination, cerebral atrophy particularly frontal, hypoplasia corpus callosum, pachygyria; microcornea; microphthalmia; congenital dense central cataracts; small atonic pupils; optic nerve hypoplasia/atrophy; L side ptosis; deep set eyes; no brachycephaly; beaked nose/prominent root nose; no hirsuitism; low frontal hairline; large anteverted ears; no genital abnormalities |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
- |
| 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 |
2021-04-25 12:00:25 +02:00 (CEST) |
| Date last edited |
N/A |
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