Phenotype #0000258543
| Individual ID |
00363177 |
| Associated disease |
WARBM |
| Diagnosis/Initial |
Warburg Micro Syndrome |
| Diagnosis/Definite |
WARBM1 |
| Phenotype details |
no intra-uterine growth retardation; no postnatal growth retardation; birth OFC 25th centile; postnatal microcephaly; no seizures; EEG normal; severe developmental delay; truncal hypotonia; spastic cerebral palsy; no congenital contractures; no speech; not walking; feeding difficulties; CT brain abnormal corpus callosum; MRI brain hypogenesis corpus callosum, agenesis splenium, decreased myelination whilte matter; microcornea; microphthalmia; congenital dense central cataracts; small atonic pupils; optic nerve hypoplasia/atrophy; blind or light perception only; ptosis; deep set eyes; brachycephaly; no beaked nose/no prominent root nose; no hirsuitism; no low frontal hairline; large anteverted ears; micropenis, bifid scrotum, cryptorchidism; few renal cysts on ultrasound, DMSA normal |
| 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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