Phenotype #0000352830

Individual ID 00467619
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite ALAZS
Inheritance Familial, autosomal recessive
Phenotype details see paper; ..., birth normal length/weight/OFC; moderate intellectual disability, short stature, facial dysmorphism; 6y-height 102cm (-2.6SD), OFC 48cm (-2.3SD); developmental delay (3y-walk, 10y first speech); unbalanced gait; no triangular face, no prominent forehead, no deep-set eyes, no narrow/short palpebral fissures, sparse eyebrows, no malar hypoplasia, full lip, broad nose, hort philtrum, no widely spaced teeth, no wide mouth, strabismus, no scoliosis; seizure, micrognathia, flat nasal bridge
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 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2025-10-24 14:47:03 +02:00 (CEST)
Date last edited N/A

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