Phenotype #0000331325
| Individual ID |
00441942 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental dealy |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., developmental delay; hypotonia; weakness; hyporelexia; rotatory nystagmus; poor feeding; respiratory distress/failure; respiratory infections; hepatomegaly; myopia; no scoliosis; no contractures; no microcephaly; no short stature; no underweight; thick eyebrows; hypertelorism; upslanted palpebral fissures; no epicanthus; broad nasal bridge; short nose; upturned nasal tip; broad low-hanging columella; thick lips; high-arched palate; low-set ears; coarse facies; excessive facial hair; flat occiput; MRI brain cerebellar vermis hypoplasia, ventricular dilatation, prominent CSF spaces, reduced white matter volume, hypoplastic corpus callosum, cavum septum pellucidum |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
3y (3 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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