Phenotype #0000323883

Individual ID 00433362
Associated disease microcephaly
Diagnosis/Initial primary microcephaly
Diagnosis/Definite -
Phenotype details primary microcephaly, fluctuant neutropenia, truncal obesity, retinal dystrophy, joints hyperlaxity; birth OFC (SD-2), weigth (SD-2.5), length (SD-3); OFC (SD-4), weigth (SD-1), length (SD-4); no epilepsy; severe intellectual disability, no speech; MRI normal; birth OFC (SD-2), weigth (SD-2.5), length (SD-3); OFC (SD-4), weigth (SD-1), length (SD-4); no epilepsy; severe intellectual disability, no speech; MRI normal
Inheritance Familial, autosomal recessive
Age/Examination 15y5m (15 years, 5 months)
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 2023-03-06 14:23:39 +01:00 (CET)
Date last edited N/A

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