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 InternationalCreative Commons License
Created by Ivo F.A.C. Fokkema