Phenotype #0000242347
| Individual ID |
00320334 |
| Associated disease |
ID |
| Diagnosis/Initial |
intellectual disability |
| Diagnosis/Definite |
- |
| Inheritance |
Isolated (sporadic) |
| Phenotype details |
pregnancy oligohydramnios, third trimester intrauterine growth retardation; neonatal hypoglycaemia; birth 41w, weight –2SD; length -1.4SD, OFC -1SD, BMI 17.5 (90th); severe developmental delay/intellectual disability; not walking; no speech; 17m-epilepsy; infancy regression; no neurological phenotype; no behavioural issues; MRI brain normal; widely spaced eyes; anteverted nares, short nose; flat nasal bridge; coarseness; hypertrichosis; thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; no flat feet; no hyperlordosis; unilateral dysplasia; no genu valgum; no club feet; skin Blaschko’s lines; umbilical hernia; strabismus, impaired vision; no hearing loss; chronic upper airways infections |
| Age/Examination |
3y2m (3 years, 2 months) |
| 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 |
2020-11-27 13:30:34 +01:00 (CET) |
| Date last edited |
N/A |
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