Phenotype #0000043086
| Individual ID |
00056414 |
| Associated disease |
CSS |
| Diagnosis/Initial |
Coffin-Siris syndrome |
| Diagnosis/Definite |
CSS1 |
| Phenotype details |
see paper; ..., birth 40w; intellectual disability; 15m-sit, 24m-walk; no speech; hypotonia; seizures [y]; no vision problem; no hearing loss; 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; no thick, anteverted alae nasi; large mouth; thin upper vermillion; thick lower vermillion; no macroglossia; short philtrum; no long philtrum; no abnormal ears; no cleft palate; a/hypoplasia distal phalanges V; no short metacarpals/metatarsals; prominent interphalangeal joints; prominent distal phalanges; no sandal gap; no spinal anomalies; normal bone age; no scoliosis; no cryptorchidism; no fetal finger pads; sparse scalp hair; no nail a/hypoplasia; no small cerebellum; no Dandy-Walker anomaly; normal corpus callosum; |
| 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 05:00:03 +01:00 (CET) |
| Date last edited |
2023-11-03 12:47:50 +01:00 (CET) |
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