Phenotype #0000355406

Individual ID 00470257
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite MRD21
Inheritance Isolated (sporadic)
Phenotype details see paper; ... birth-40w, weight 2,900 g, length 49 cm; feeding difficulties; muscular hypotonia; weight 40.5 kg (-1.74SD), height 156 cm (-1.94 SD), OFC 54 cm (-0.84 SD; developmental delay, moderate intellectual disability; 30m-walk; 2y-first words; sleeping disturbances, autistic behavior, temper tantrums; CT brain 1y-dilated left ventricle; no recurrent infections; hypermetropia, strabism; normal hearing; high forehead, hypertelorism, thick eyebrows, long eyelashes, epicanthic folds, low-set posteriorly rotated ears, long philtrum, thin lips; hypertrichosis, sandal gaps, broad 1st toe
Age/Examination 15y (15 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 2025-11-29 16:20:27 +01:00 (CET)
Date last edited N/A

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