Phenotype #0000275386

Individual ID 00381537
Associated disease MKHK
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details Arachnodactyly, Long toe, Slender toe, Global developmental delay, Seizure, Ataxia, Abnormality of coordination, Hydrocephalus, Abnormality of the pons, Arachnoid cyst, Seizure, Asthma, Joint hypermobility, Muscular hypotonia, Muscular hypotonia of the trunk, Motor delay, Macrocephaly, Chronic constipation, Dental malocclusion, Focal-onset seizure
Inheritance Isolated (sporadic)
Age/Examination 04y (4 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2021-08-31 15:56:46 +02:00 (CEST)
Date last edited 2021-09-01 10:40:56 +02:00 (CEST)

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