Phenotype #0000043087
| Individual ID |
00056415 |
| Associated disease |
CSS |
| Diagnosis/Initial |
Coffin-Siris syndrome |
| Diagnosis/Definite |
CSS1 |
| Phenotype details |
see paper; ..., birth 40w; intellectual disability; 11m-sit, 28m-walk; 48m-first words; no seizures; no hearing loss; no frequent infections; no feeding problems; no behavioural anomalies; coarse face; low frontal hairline; no synophrys; thick eyebrows; long eyelashes; no ptosis; no narrow palpebral fissures; no flat nasal bridge; broad nose; no upturned nasal tip; thick, anteverted alae nasi; large mouth; thick lower vermillion; macroglossia; short philtrum; no long philtrum; abnormal ears; no cleft palate; mild a/hypoplasia distal phalanges V; no prominent interphalangeal joints; no prominent distal phalanges; no spinal anomalies; cryptorchidism; no congenital heart disease; body hirsutism; no increased skin wrinkling; fetal finger pads; mild sparse scalp hair; mild nail a/hypoplasia; abnormal dentition ("conic" teeth), hippocampal malrotation; no small cerebellum; no Dandy-Walker anomaly; abnormal corpus callosum; umbilical hernia |
| 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 05:00:04 +01:00 (CET) |
| Date last edited |
2023-11-03 12:38:09 +01:00 (CET) |
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