Phenotype #0000043093
| Individual ID |
00056421 |
| Associated disease |
CSS |
| Diagnosis/Initial |
Coffin-Siris syndrome |
| Diagnosis/Definite |
CSS1 |
| Phenotype details |
see paper; ..., birth 38w; intellectual disability; 12m-sit, 24m-walk; 48m-first words; hypotonia; no seizures; refractory error; no hearing loss; no frequent infections; 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; no short philtrum; long philtrum; no abnormal ears; no cleft palate; a/hypoplasia distal phalanges V; prominent interphalangeal joints; prominent distal phalanges; no sandal gap; no spinal anomalies; delayed bone age; scoliosis; no cryptorchidism; no congenital heart disease; 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; abnormal corpus callosum; umbilical hernia |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
- |
| Age/Diagnosis |
08y |
| 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 05:00:10 +01:00 (CET) |
| Date last edited |
2023-11-03 12:48:42 +01:00 (CET) |
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|
