Phenotype #0000043101
| Individual ID |
00048046 |
| Associated disease |
CSS |
| Diagnosis/Initial |
Coffin-Siris syndrome |
| Diagnosis/Definite |
CSS2 |
| Phenotype details |
see paper; ..., birth 38w; intellectual disability; >19m-walk; 12m-first words; hypotonia; seizures [y]; strabismus; no hearing loss; no frequent infections; hyperactivity; coarse face; low frontal hairline; no synophrys; thick eyebrows; long eyelashes; ptosis; no narrow palpebral fissures; flat nasal bridge; broad nose; upturned nasal tip; no thick, anteverted alae nasi; large mouth; no thin upper vermillion; thick lower vermillion; macroglossia; short philtrum; no long philtrum; abnormal ears; no cleft palate; no a/hypoplasia distal phalanges V; short metacarpals/metatarsals; prominent interphalangeal joints; no prominent distal phalanges; sandal gap; no spinal anomalies; delayed bone age; no scoliosis; cryptorchidism; no congenital heart disease; body hirsutism; no increased skin wrinkling; no fetal finger pads; no sparse scalp hair; nail a/hypoplasia; no small cerebellum; no Dandy-Walker anomaly; abnormal corpus callosum; double ureter, diabetes mellitus II |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
- |
| Age/Diagnosis |
09y09m |
| 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 05:52:36 +01:00 (CET) |
| Date last edited |
2023-11-03 12:46:25 +01:00 (CET) |
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