Phenotype #0000167686

Individual ID 00219140
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite MRX-102
Inheritance Unknown
Phenotype details no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); moderate intellectual disability (HP:0002342) ; hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); abnormal behaviour (HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650)
Age/Examination 8y (8 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 2019-02-06 21:03:42 +01:00 (CET)
Date last edited 2019-02-06 21:10:16 +01:00 (CET)

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