Phenotype #0000000688

Individual ID 00001506
Associated disease CSS
Diagnosis/Initial -
Diagnosis/Definite CSS
Phenotype details brith 40w, weight SD 1; hypotonia; birth feeding problems ongoing; eczema (HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); delayed growth (HP:00001510); abnormal vision (HP:0000504); no hearing loss (-HP:0000365); severe speech delay (HP:0000750); severe intellectual disability; normal behaviour (-HP:0000708); sparse scalp hair (HP:0002209); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); ear abnormality (HP:0000598); hypertrichosis (HP:0000998); pectus excavatum (HP:0000767); small nails 5th only;; ;; no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); agenesis corpus callosum (HP:0001274); astigmatism (HP:0000483);
Inheritance Isolated (sporadic)
Age/Examination 05y (5 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