Phenotype #0000348087
| Individual ID |
00460359 |
| Associated disease |
NDD |
| Diagnosis/Initial |
intellectual disability |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., birth weight 1,320g (P44; -0.15), length 41cm (+0.38), OFC 28cm (0); 13y-height 147cm (-1.94), weight 31.8kg (-2.77), OFC 55cm (+0.68); walking with assistance at the age of 16 y; no speech; severe Intellectual disability; 6m-seizures; MRI unspecific gliosis in right frontal semioval center; hand washing movements; repetitive head circling, fingernail biting; laughing fits; difficulty sleeping through night; discrete synophrys, short, broad nose with broad nasal bridge, low-hanging columella, short, deep philtrum, high and narrow palate; strabismus convergens; hypopigmented maculae covering entire integument; Langerhans cell histiocytosis as newborn; episodes of near-daily vomiting |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
16y10m (16 years, 10 months) |
| 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 |
2025-01-24 19:20:35 +01:00 (CET) |
| Date last edited |
N/A |
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