Phenotype #0000000727

Individual ID 00001545
Associated disease CSS
Diagnosis/Initial -
Diagnosis/Definite CSS
Phenotype details brith 38w, weight SD -2.3, OFC 31.8 cm (9th centile); Hair microscopy normal, short anagen cycle,Sensitive to the sun. reduced sweating. Overheats.,Skin biopsy normal ie not cockayne,Reduced subcutaneous fat,Family history of x-linked ichthyosis,STS normal,Fetal pads on feet,Long fingers and toes,Red palms,Coarse face,EEG normal / west syndrome; one fused canine; MRI-brain Normal / reduced white matter / immature myelin; seizures onset 9m; generalized tonic-clonic seizures (HP:0002069); severe speech delay (HP:0000750); moderate intellectual disability; stubborn; anteverted nares (HP:0000463); wide philtrum (HP:0000289); no pectus excavatum (-HP:0000767); no brachydactyly (-HP:000156);; no hypoplastic phalanges fingers/toes; constipation; no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); no agenesis corpus callosum (-HP:0001274); astigmatism (HP:0000483);
Inheritance Isolated (sporadic)
Age/Examination 06y (6 years)
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