Phenotype #0000325765
| Individual ID |
00435580 |
| Associated disease |
NDD |
| Diagnosis/Initial |
epilepsy, intellectual disability |
| Diagnosis/Definite |
DEE54 |
| Phenotype details |
see paper; ..., birth 38w, weight 2835g (-1.08), length 48cm (-1.34), OFC 32.5cm (-1.71) ; weight 18kg (+1.6), height 96cm (-1), OFC 51cm (+1.02); severe intellectual disability; no microcephaly; no short stature; no hypotonia; speech impairment, words, short sentences; onset 11m, febrile tonic-clonic seizures and absences, later occurring without fever; no prominent metopic ridge; no deep set eyes; no hypertelorism; no depressed nasal bridge; no short nose; no anteverted nares; bulbous nasal tip; no long philtrum; thin upper vermillion; no eversion of upper lip; no micro/retrognathia; no teeth abnormalities, thick gums; no short neck; no ear abnormalities; normal corpus callosum; no feeding difficulties; no hearing deficit; no cardiac abnormalities; short and broad thumbs, columella thick, fleshy alae nasi |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
3y6m (3 years, 6 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 |
2023-08-04 19:02:00 +02:00 (CEST) |
| Date last edited |
N/A |
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