Phenotype #0000000689
| Individual ID |
00001507 |
| Associated disease |
CSS |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
CSS |
| Phenotype details |
brith 34w, weight SD -0.5; seizures onset 6m, low frequency; hypotonia; birth feeding problems 2y; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); generalized seizures (HP:0002197); delayed growth (HP:00001510); normal vision (-HP:0000504); no hearing loss (-HP:0000365); growth hormone deficiency, cerebral malformations; moderate-severe speech delayed (HP:0000750); moderate intellectual disability; aggressiveness, hyperkinetic, significant short attention span; sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); abnormality nasal bridge (HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); no cleft palate (-HP:0000175); normal ears (-HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); wrinkling skin (HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); brachydactyly (HP:000156); hypoplastic 5th distal phalanx; small nails 5th only; markedly delayed bone age (HP:0003799), no prominent interphalangeal joints (-HP:0006237) , prominent distal phalanges, no cone shaped epiphyses (-HP:0010579), hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); partial agenesis corpus callosum; |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
08y06m (8 years, 6 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) |
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