Phenotype #0000230578
| Individual ID |
00303500 |
| Associated disease |
? |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Phenotype details |
birth weight –0.75 SD, OFC 0 SD; postnatal weight +2 SD, OFC 0 SD; postnatal growth deficiency; severe developmental delay/initellectual disability; myoclonic seizures; contractures; no endocrine issues; no hypothyroidism; no immunodeficiency; syndactyly, camptodactyly; strabismus; normal skin; no pectus; no scoliosis; inguinal hernia; no cardiac defects; no gastrourigenital defects; pericardial effusion/gut; recurrent infections; sparse hair, hair whorls; normal eyebrows; prominent forehead; hypertelorism; no wide palpebral fissures; no everted lateral eyelids; no epicanthal folds; bilateral ptosis; wise nasal bridge; flared nostrils; normal nasal tip; no low-hanging columella; no underdeveloped midface; normal philtrum; no thin upper vermillion; wide mouth; normal ears; broad jaw, widely spaced teeth; MRI brain ventriculomegaly, cerebellar tonsillar ectopia |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
34y (34 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Tumor/MSI |
- |
| Diagnosis/Criteria |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2020-06-15 09:56:59 +02:00 (CEST) |
| Date last edited |
N/A |
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