Phenotype #0000352855

Individual ID 00467690
Associated disease ?
Diagnosis/Initial developmental delay
Diagnosis/Definite ALAZS
Phenotype details see paper; ..., delayed milestones, severe intellectual disability; height 123.5 cm (<−3SD), 46.3 cm (<−3SD); triangular face, prominent forehead, malar flattening, micrognathia, laterally sparse eyebrows; left eye buphthalmos; prominent nose, broad nasal tip/ridge; short philtrum; wide mouth, cleft palate, dental crowding, full lips; cortical thinning phalanges and metacarpals; behavior hyperactive, stubborn; café au lait macule on right forearm; inguinal hernia
Inheritance Familial, autosomal recessive
Age/Examination 13y (13 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 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2025-10-27 10:52:17 +01:00 (CET)
Date last edited N/A

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