Phenotype #0000029121

Individual ID 00038733
Associated disease ICF3
Phenotype details facial anomalies (HP:0001999), no gastrointestinal problems, infections (otitis); IgG 2.32 g/l, IgA <0.07 g/l, IgM 0.03 g/l; cytogenetic abnormalities include stretching, breaking, decondensation
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Birth/Weight 2800g
Infections yes
Protein -
Development no motor
Intellectual_dis no
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 11:45:16 +02:00 (CEST)
Date last edited 2015-07-05 12:14:16 +02:00 (CEST)

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