Phenotype #0000330397
| Individual ID |
00056427 |
| Associated disease |
CSS |
| Diagnosis/Initial |
Coffin-Siris syndrome |
| Diagnosis/Definite |
CSS1 |
| Phenotype details |
see paper; ..., birth 42w; intellectual disability; 31m-walk; 65m-first words; hypotonia; no seizures; no vision problem; no hearing loss; no frequent infections; feeding problems; rigid behavior; coarse face; no synophrys; thick eyebrows; long eyelashes; no ptosis; no narrow palpebral fissures; no flat nasal bridge; no broad nose; upturned nasal tip; thick, anteverted alae nasi; large mouth; no thin upper vermillion; thick lower vermillion; macroglossia; no short philtrum; no long philtrum; no abnormal ears; no cleft palate; generally short distal phalanges; no short metacarpals/metatarsals; no prominent interphalangeal joints; no prominent distal phalanges; no sandal gap; no spinal anomalies; delayed bone age; no scoliosis; no cryptorchidism; ASD; body hirsutism; no increased skin wrinkling; no fetal finger pads; sparse scalp hair; nail a/hypoplasia; delayed dentition; no small cerebellum; no Dandy-Walker anomaly; normal corpus callosum; |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
- |
| Age/Diagnosis |
06y |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2023-11-03 12:42:52 +01:00 (CET) |
| Date last edited |
N/A |
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