Phenotype #0000350046

Individual ID 00462568
Associated disease SCKL
Diagnosis/Initial microcephaly
Diagnosis/Definite -
Phenotype details see paper; ..., severe microcephaly, growth delay, dysmorphic facial feature; birth weight 2.06kg, OFC 27.1cm; 14m-- weight -5 SD, height -5 SD, OFC -9 SD; micrognathia, receding forehead, prominent nose; dental crowding; small ear lobes; bilateral 5th finger clinodactyly; delayed bone age (wrist/hips), symmetric dwarfism; MRI 14m-generalised cerebral atrophy, normal ventricular systems, delayed myelination anterior limb internal capsule, pituitary present though unusual shape with absent fossa
Inheritance Familial, autosomal recessive
Age/Examination 00y14m (14 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 2025-02-13 16:57:43 +01:00 (CET)
Date last edited 2025-02-13 17:59:55 +01:00 (CET)

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