Phenotype #0000337140

Individual ID 00447947
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite MRD54
Inheritance Isolated (sporadic)
Phenotype details severe intellectual disability (HP:0001249; delayed speech and language development (HP:0000750); normal behavior (-HP:0100851); global developmental delay (HP:0001263); delayed gross motor development (HP:0002194); hypotonia (HP:0001252); abnormal facial shape (HP:0001999); abnormality of the digestive system (HP:0025031); growth abnormality (HP:0001507); visual impairment (HP:0000505); no seizures (-HP:0001250); microcephaly (HP:0000256)
Age/Examination -
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 2024-02-03 16:36:02 +01:00 (CET)
Date last edited N/A

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