Phenotype #0000230570
| Individual ID |
00303492 |
| Associated disease |
? |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Phenotype details |
birth weight –1.5 SD, OFC –2 SD; postnatal weight –1 SD, OFC –3.5 SD; postnatal growth deficiency; severe developmental delay/initellectual disability; seizures; hypotonia; low growth hormone; no hypothyroidism; no immunodeficiency; camptodactyly; optic atrophy; normal skin; no pectus; scoliosis; inguinal hernia; no cardiac defects; no gastrourigenital defects; no lymphatic malformations; no recurrent infections; normal hair; normal eyebrows; normal forehead; no hypertelorism; wide palpebral fissures; no everted lateral eyelids; epicanthal folds; no ptosis; high nasal bridge; no flared nostrils; up nasal tip; low-hanging columella; no underdeveloped midface; short philtrum; no thin upper vermillion; corners down mouth; normal ears; long neck; MRI brain diffuse atrophy, decreased white matter, ventriculomegaly, thin corpus callosum, diffuse atrophy, mild vermis hypoplasia |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
14y (14 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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