Phenotype #0000099225

Individual ID	00125791
Associated disease	CSS
Diagnosis/Initial	-
Diagnosis/Definite	CSS
Phenotype details	photophobia; generalized hypotonia; 6m-feeding problems 1-2y; no seizures (-HP:0001250); delayed growth (HP:00001510); hearing loss (HP:0000365); speech delayed (HP:0000750); mild-moderate intellectual disability; abnormal behaviour (HP:0000708); sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); walk-17m; no ptosis (-HP:0000520); thick alae (HP:0009928); short philtrum (HP:0000322); wide mouth (HP:0000154); abnormality lower lip (HP:0000178); no cleft palate (-HP:0000175); ear abnormality (HP:0000598); no hypertrichosis (-HP:0000998); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); short 5th finger (HP:0009237); no absent 5th distal phalanx; multiple small nails; no delayed bone age (-HP:0003799);; no hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242), no gastro-esophoegal reflux (-HP:0002020); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); small teeth (HP:0000691); recurrent infections (HP:0002719); MRI brain normal; no pyloric stenosis (-HP:0002021); no inguinal hernia (-HP:0000023); hypermetropia (HP:000540), no coloboma (-HP:0000589); normal eye movement (-HP:0000496)
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Bernt Popp
Database submission license	No license selected
Created by	Bernt Popp
Date created	2017-09-14 19:41:59 +02:00 (CEST)
Date last edited	2020-07-26 12:38:06 +02:00 (CEST)