Phenotype #0000043131
| Individual ID |
00048042 |
| Associated disease |
CSS |
| Diagnosis/Initial |
Coffin-Siris syndrome |
| Diagnosis/Definite |
CSS5 |
| Phenotype details |
see paper; ..., birth 38w; intellectual disability; 18 m-sit, 54m-walk; speech no words, only vocalization; no hypotonia; no seizures; frequent infections; feeding problems; no behavioural anomalies; coarse face; low frontal hairline; no 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; no macroglossia; short philtrum; no long philtrum; abnormal ears; no cleft palate; a/hypoplasia distal phalanges V; no prominent distal phalanges; sandal gap; delayed bone age; no scoliosis; ASD, dextropositio cordis, slightly pulmonal hypertension, enlarged right ventricle; no increased skin wrinkling; no fetal finger pads; sparse scalp hair; nail a/hypoplasia; ?; small cerebellum; Dandy-Walker anomaly; abnormal corpus callosum; |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
- |
| Age/Diagnosis |
00y30m |
| 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 05:53:07 +01:00 (CET) |
| Date last edited |
2023-11-03 12:35:08 +01:00 (CET) |
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