Phenotype #0000331327
| Individual ID |
00441944 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental dealy |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., developmental delay; hypotonia; weakness; hyporelexia; no rotatory nystagmus; no poor feeding; no respiratory distress/failure; no respiratory infections; no hepatomegaly; no myopia; scoliosis; contractures; microcephaly; short stature; underweight; no thick eyebrows; no hypertelorism; no upslanted palpebral fissures; no epicanthus; no broad nasal bridge; short nose; upturned nasal tip; broad low-hanging columella; no thick lips; high-arched palate; no low-set ears; coarse facies; no excessive facial hair; no flat occiput; MRI brain cerebellar vermis hypoplasia, ventricular dilatation, prominent CSF spaces, reduced white matter volume, no hypoplastic corpus callosum, no cavum septum pellucidum |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
11y (11 years) |
| 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 |
2023-11-16 13:17:26 +01:00 (CET) |
| Date last edited |
N/A |
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