Global Variome shared LOVD

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Phenotype #0000352819 Individual ID 00467608 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite ALAZS Inheritance Familial, autosomal recessive Phenotype details see paper; ..., severe developmental delay (22m at 5.1y,) intellectual disability (IQ37); 18m-walk; speech two-word sentences, echolalia; behavior happy, social; no self-mutilation; hyperactivity; no triangular face; prominent forehead; no narrow/short palpebral fissures; deep-seated eyes; no sparse eyebrows; no low-set ears; no malar hypoplasia; broad nose; no short philtrum; no wide mouth; full lips (only full lower lip); widely spaced teeth; scoliosis; clinodactyly first toe; thickened skin over hands, transient erythroblastic anemia of childhood Age/Examination 06y (6 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - 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 22:33:43 +02:00 (CEST) Date last edited N/A

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