Phenotype #0000000013

Individual ID 00000145
Associated disease SPD
Inheritance Familial, autosomal recessive
Diagnosis/Initial primordial dwarfism
Age/Examination -
Diagnosis/Definite ALAZS
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Phenotype details see paper; ..., primordial dwarfism (growth parameters <3.5 SD); severe intellectual disability; some with scoliosis, mild epiphyseal changes proximal phalanges; no dysplasia, normal bone age; triangular face, narrow and short palpebral fissure, deep-seated eyes, sparse eyebrows, low set ears, malar hypoplasia, broad nose, short philtrum, wide mouth, full lips, widely spaced teeth, strabismus
Protein -
Owner name Anas M Alazami
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2012-07-08 20:00:38 +02:00 (CEST)
Date last edited 2025-10-23 10:57:47 +02:00 (CEST)

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