Phenotype #0000350417

Individual ID 00464394
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite MRD50
Inheritance Familial, autosomal dominant
Phenotype details see paper; ..., (growth parameters); motor delay (HP:0001270), 8m-sit, 18m-walk; moderate intellectual disability (HP:0002342); hetero-aggressivness (HP:0000718), hyperactivity (HP:0000752), mild autistic features (HP:0000729); speech delay (HP:0000750), 5-10 words; no seizures; hypotonia (HP:0001290); mild facial dysmorphism (HP:0001999), small mouth (HP:0000160), low set ears (HP:0000369); no skeletal anomalies; normal connective tissue; father is mildly affected father (2y-walk, speech delay, low IQ)
Age/Examination 4.5y
Age/Diagnosis -
Age/Onset 3y4m
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 2025-03-08 17:44:25 +01:00 (CET)
Date last edited N/A

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