Phenotype #0000323868

Individual ID 00433347
Associated disease microcephaly
Diagnosis/Initial primary microcephaly
Diagnosis/Definite -
Phenotype details primary microcephaly, short stature; birth OFC (SD-2.5), weigth (SD+0.5), length (SDNA); OFC (SD-8), weigth (SD-3), length (SD-2.5); no epilepsy; IQ35 (Terman‐Merill); MRI simplified pattern; birth OFC (SD-2.5), weigth (SD+0.5), length (SDNA); OFC (SD-8), weigth (SD-3), length (SD-2.5); no epilepsy; IQ35 (Terman‐Merill); MRI simplified pattern
Inheritance Familial, autosomal recessive
Age/Examination 18y (18 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 2023-03-06 14:23:39 +01:00 (CET)
Date last edited N/A

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