Phenotype #0000000693

Individual ID 00001511
Associated disease CSS
Diagnosis/Initial -
Diagnosis/Definite CSS
Phenotype details brith 37w, weight SD -2.5, OFC SD; haemangioma (in sacral area); death from seizures, status epilepticus; myopia severe -10D (HP:0011003); generalized hypotonia; birth feeding problems ongoing; no eczema (-HP:0000964); seizures (HP:0001250); delayed growth (HP:00001510); severe speech delay (HP:0000750); severe intellectual disability; hyperactivity (HP:0000752); sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); cleft palate (HP:0000175); ear abnormality (HP:0000598), ear tags (HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); pectus excavatum (HP:0000767); no dislocated elbows (-HP:0003042); small patella (HP:0003065); brachydactyly (HP:000156); multiple small nails; prominent interphalangeal joints (HP:0006237), prominent distal phalanges;; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); atrial septal defect; no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); corpus callosum agenesis partial (HP:0001388), colpocephaly (HP:0030048), partial agenesis corpus callosum; myopia (HP:0000545);
Inheritance Isolated (sporadic)
Age/Examination 09y09m (9 years, 9 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