Global Variome shared LOVD

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Phenotype #0000352863 Individual ID 00467697 Associated disease ? Diagnosis/Initial developmental delay Diagnosis/Definite ALAZS Phenotype details see paper; ..., facial dysmorphism, poor growth, cardiac/genitourinary findings, developmental delay; transient erythroblastopenia of childhood (TEC), immune deficiency; periventricular nodular heterotopia, stroke; growth retardation (height -4.91 SD, weight -3.03 SD), OFC (-1.37 SD), global developmental delay, feeding difficulties, failure to thrive (and severe malnutrition), neonatal aspiration on swallow study, atrial septal defect with left to right shunt, pyelectasis, bilateral hydronephross, obstructive sleep apnea, frequent ear infections and multiple upper respiratory infections, diarrhea (resolved), elevated erythrocyte sedimentation rate, bilateral testicles in the inguinal canals, oropharyngeal dysphasia and delayed swallow trigger, anemic, erythroblastopenia of childhood, sensorineural hearing loss Inheritance Familial, autosomal recessive Age/Examination 02y (2 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-10-27 12:53:22 +01:00 (CET) Date last edited N/A

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