Phenotype #0000000735

Individual ID 00001553
Associated disease CSS
Diagnosis/Initial -
Diagnosis/Definite CSS
Phenotype details brith 40w, weight SD -0.6, OFC 35 cm; Large abdomen (flatulence, bloat of ab domen), severe problems with function of digestive track recurrence diarrhea and constipation from age of 5 finished, but large abdomen is evident; myopia severe -7D (HP:0011003); birth feeding problems; no seizures (-HP:0001250); severe speech delay (HP:0000750); moderate intellectual disability; nice, calm boy, anxious (e.g. during the meals), big appetite; no anteverted nares (-HP:0000463); wide philtrum (HP:0000289); pectus excavatum (HP:0000767); brachydactyly (HP:000156); advanced bone age (HP:0002805); no hypoplastic phalanges fingers/toes; constipation; atrial septal defect; no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); agenesis corpus callosum (HP:0001274); severe myopia (HP:0011003);
Inheritance Isolated (sporadic)
Age/Examination 05y02m (5 years, 2 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