Phenotype #0000029118

Individual ID 00038729
Associated disease ICF3
Phenotype details facial anomalies (HP:0001999), gastrointestinal problems (chronic diarrhea HP:0002028), infections (otitis, pneumonia); IgG 2.8 g/l, IgA <0.04 g/l, IgM 0.23 g/l; cytogenetic abnormalities include stretching, multiradial configuration
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Birth/Weight 1960g
Infections yes
Protein -
Development motor
Intellectual_dis yes
Owner name Peter Thijssen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2015-05-29 11:20:42 +02:00 (CEST)
Date last edited 2015-07-05 12:12:36 +02:00 (CEST)

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