Phenotype #0000239768

Individual ID 00316023
Associated disease NDD
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details birth weight 2840 gr (0.8 SD), OFC 31.5 cm (-2.3 SD); 12y-OFC 51 cm (-2.43 SD); moderate intellectual disability; microcephaly detected during pregnancy; holds head-4m, sit-8m, first words-14m, walk-24m; no anxiety; attention deficit hyperactivity disorder-like, dysfunctional adaptative behavior; hypertonia limbs, hyperreflexia limbs, spastic gait; spastic-dyspraxic gait, dysmetria, SARA scale 5; intention tremor, mild hypokinesia, bradykinesia; 9y-nerve conduction normal; MRI brain corpus callosum hypoplasia, unilateral Perisylvian polymicrogyria; 9y-severe hypertrophic cardiomyopathy; heart transplantation; arched eyebrows, thin upper lip,low-set thumbs, 2-3 toe syndactyly; expressive language disorder
Inheritance Familial, autosomal recessive
Age/Examination 12y (12 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2020-11-01 12:39:14 +01:00 (CET)
Date last edited 2020-11-01 13:06:52 +01:00 (CET)

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