Phenotype #0000043089
| Individual ID |
00056417 |
| Associated disease |
CSS |
| Diagnosis/Initial |
Coffin-Siris syndrome |
| Diagnosis/Definite |
CSS1 |
| Phenotype details |
see paper; ..., birth 37w; intellectual disability; 10m-sit, 24m-walk; 23m-first words; hypotonia; seizures [y]; strabismus, suspected optical atrophy; no hearing loss; frequent infections; feeding problems; aggressive behaviour; coarse face; low frontal hairline; synophrys; thick eyebrows; long eyelashes; no ptosis; narrow palpebral fissures; no flat nasal bridge; broad nose; no upturned nasal tip; thick, anteverted alae nasi; large mouth; thin upper vermillion; thick lower vermillion; macroglossia; no short philtrum; long philtrum; low-set, large ear lobes; no cleft palate; brachymesophalangy V, generally short distal phalanges; no short metacarpals/metatarsals; no prominent interphalangeal joints; no prominent distal phalanges; delayed bone age (13m); right cryptorchidism; slight mitral insufficiency; body hirsutism; no increased skin wrinkling; no fetal finger pads; sparse scalp hair; no nail a/hypoplasia; no small cerebellum; no Dandy-Walker anomaly; normal corpus callosum; choroideal cysts in right and left lateral ventricle |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
- |
| Age/Diagnosis |
00y01m |
| 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 05:00:06 +01:00 (CET) |
| Date last edited |
2023-11-03 12:30:28 +01:00 (CET) |
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