Phenotype #0000000707

Individual ID 00001525
Associated disease CSS
Diagnosis/Initial -
Diagnosis/Definite CSS
Phenotype details hyperpigmented macule left shoulder, tight hip flexors with mild spasticity. Truncal hypotonia; seizures onset 2y, 2 per month; hypotonia; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); focal seizures (HP:0007359); no growth abnormality (-HP:0001507); no hearing loss (-HP:0000365); apneas secondary to tonsil and adnoid hypertrophy; moderate speech delay (HP:0000750); moderate intellectual disability; normal behaviour (-HP:0000708); sparse scalp hair (HP:0002209); normal eyebrow (-HP:0000534); 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); normal nasal bridge (-HP:0000422), anteverted nares (HP:0000463); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); thick lower lip vermillion (HP:0000179); no cleft palate (-HP:0000175); normal ears (-HP:0000598), no ear tags (-HP:0000384); no hypertrichosis (-HP:0000998); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); no brachydactyly (-HP:000156); no absent 5th distal phalanx; no small nails (-HP:0001792); no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange, no cone shaped epiphyses (-HP:0010579); joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); MRI brain normal, no agenesis corpus callosum (-HP:0001274);
Inheritance Isolated (sporadic)
Age/Examination 05y06m (5 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