Phenotype #0000043085
| Individual ID |
00056413 |
| Associated disease |
CSS |
| Diagnosis/Initial |
Coffin-Siris syndrome |
| Diagnosis/Definite |
CSS1 |
| Phenotype details |
see paper; ..., birth 39w; intellectual disability; 20m-walk; hypotonia; no seizures; no vision problem; no hearing loss; no frequent infections; feeding problems; no behavioural anomalies; coarse face; low frontal hairline; synophrys; thick eyebrows; long eyelashes; ptosis; no narrow palpebral fissures; flat nasal bridge; broad nose; no upturned nasal tip; thick, anteverted alae nasi; large mouth; thin upper vermillion; thick lower vermillion; macroglossia; short philtrum; no abnormal ears; no cleft palate; a/hypoplasia distal phalanges V; no short metacarpals/metatarsals; no spinal anomalies; delayed bone age (12m); no scoliosis; no congenital heart disease, septal aneurysm with no shunt; body hirsutism; increased skin wrinkling; fetal finger pads; no sparse scalp hair; nail a/hypoplasia; delayed dentition; no small cerebellum; no Dandy-Walker anomaly; normal corpus callosum; renal cysts |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Eline van der Sluijs |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2016-01-09 05:00:02 +01:00 (CET) |
| Date last edited |
2023-11-03 12:26:36 +01:00 (CET) |
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