Phenotype #0000355637
| Individual ID |
00470741 |
| Associated disease |
ID |
| Diagnosis/Initial |
intellectual disability |
| Diagnosis/Definite |
- |
| Inheritance |
Familial, autosomal recessive |
| Phenotype details |
see paper; ..., global psychomotor developmental delay; no failure to thrive; hypotonia; 18m-sit; 28m-walk; speech 5y-first words, single words; intellectual disability; autism spectrum disorder; behaviour normal; 11y-epilepsy; EEG independent left and right temporal and left frontal spikes (with sleep suggestive of predisposition to a mixed seizure disorder); MRI multiple perivascular spaces frontoparietal white matter (Incidentally and overall unremarkable); low-set and posteriorly rotated ears with large lobes, broad eyebrows, medial eyebrow flare, deep set eyes, mild retrognathia; astigmatism, hyperopia not requiring correction; back mild hypertrichosis; short stature, bilateral pes cavus; normal kidney; bilateral cryptorchidism; congenital hypothyroidism; Sacral dimple, broad-based gait |
| Age/Examination |
12y (12 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2025-12-08 15:51:34 +01:00 (CET) |
| Date last edited |
N/A |
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