Phenotype #0000346198

Individual ID 00457749
Associated disease MRD57
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details Microcephaly, Autism, Intellectual disability, Developmental regression, EEG abnormality, Short stature, Decreased body weight, Upslanted palpebral fissure, Long nose, Abnormality of the outer ear
Inheritance Isolated (sporadic)
Age/Examination 10y (10 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 2024-11-18 12:45:16 +01:00 (CET)
Date last edited 2024-11-20 15:24:58 +01:00 (CET)

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