Phenotype #0000043096
| Individual ID |
00056424 |
| Associated disease |
CSS |
| Diagnosis/Initial |
Coffin-Siris syndrome |
| Diagnosis/Definite |
CSS1 |
| Phenotype details |
see paper; ..., birth 33w; intellectual disability; 24 m-sit, 30m-walk; 36m-first words; no hypotonia; seizures [y]; refraction error; no hearing loss; no frequent infections; feeding problems; no behavioural anomalies; coarse face; no low frontal hairline; no synophrys; thick eyebrows; long eyelashes; no ptosis; no narrow palpebral fissures; flat nasal bridge; broad nose; upturned nasal tip; thick, anteverted alae nasi; large mouth; no thin upper vermillion; no thick lower vermillion; no macroglossia; no short philtrum; no long philtrum; abnormal ears; no cleft palate; a/hypoplasia distal phalanges V; no short metacarpals/metatarsals; no prominent interphalangeal joints; no prominent distal phalanges; no sandal gap; no spinal anomalies; scoliosis; cryptorchidism; ASD; body hirsutism; sparse scalp hair; hypoplasia toe nails; delayed dentition; no small cerebellum; no Dandy-Walker anomaly; abnormal corpus callosum; |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
- |
| Age/Diagnosis |
04y |
| 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 05:00:13 +01:00 (CET) |
| Date last edited |
2023-11-03 12:34:02 +01:00 (CET) |
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