Phenotype #0000000733
| Individual ID |
00001551 |
| Associated disease |
CSS |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
CSS |
| Phenotype details |
brith 39w, weight SD -0.9, OFC 35 cm; Bifid uvula; hypotonia; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); abnormal vision (HP:0000504); no hearing loss (-HP:0000365); severe speech delay (HP:0000750); mild intellectual disability; behaviour instable; normal scalp hair (-HP:0100037); normal eyebrow (-HP:0000534); delayed gross motor skills (HP:0002194); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), no anteverted nares (-HP:0000463), thick alae (HP:0009928); wide mouth (HP:0000154); no cleft palate (-HP:0000175); normal ears (-HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no scoliosis (-HP:0002650); pectus excavatum (HP:0000767); dislocated elbows (HP:0003042); no small patella (-HP:0003065); no brachydactyly (-HP:000156); small nails 5th only;; no cone shaped epiphyses (-HP:0010579), hypoplastic phalanges fingers/toes; pyloric stenosis; no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); no agenesis corpus callosum (-HP:0001274); pyloric stenosis (HP:0002021); astigmatism (HP:0000483), myopia (HP:0000545); |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
06y11m (6 years, 11 months) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Gijs Santen |
| Database submission license |
Creative Commons Attribution-ShareAlike 4.0 International |
| Created by |
Ivo F.A.C. Fokkema |
| Date created |
2013-06-28 17:52:20 +02:00 (CEST) |
| Date last edited |
2020-07-26 12:38:06 +02:00 (CEST) |
|
