Phenotype #0000357290

Individual ID 00472480
Associated disease NDD
Diagnosis/Initial congenital lactic acidosis
Diagnosis/Definite CHOCNS
Phenotype details see paper; ..., no prenatal anomalies; no neonatal aproblems; normal growth; developmental delay; intellectual disability (IQ=56); anxiety, aggression; delayed sit; delayed walk; delayed speech; MRI brain normal; no history of easy bruising and/or bleeding, enlarged platelets not measured; synophris, sparse scalp hair, widely spaced teeth
Inheritance Isolated (sporadic)
Age/Examination 29y (29 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2026-02-18 11:04:57 +01:00 (CET)
Date last edited N/A

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