Global Variome shared LOVD

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Phenotype #0000352820 Individual ID 00467609 Associated disease ? Diagnosis/Initial intrauterine growth retardation Diagnosis/Definite ALAZS Phenotype details see paper; ..., intrauterine growth retardation; severe developmental delay (1y at 2.5y); 27m-walk; speech no single words;  ; no self-mutilation; no hyperactivity; triangular face; prominent forehead; narrow/short palpebral fissures; deep-seated eyes; sparse eyebrows; no low-set ears; malar hypoplasia; broad nose; short philtrum; wide mouth; full lips; widely spaced teeth; no scoliosis; second and fourth toes overlap over third toe; cleft palate, right torticollis Inheritance Familial, autosomal recessive Age/Examination 2.5y 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 2025-10-23 22:40:34 +02:00 (CEST) Date last edited N/A

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