Phenotype #0000258192

Individual ID 00362822
Associated disease WARBM
Diagnosis/Initial Warburg Micro syndrome
Diagnosis/Definite WARBM3
Phenotype details postnatal growth retardation; postnatal microcephaly; 6w-smiled, mild head lag, not yet sitting, able to hold toy; severe axial hypotonia; not walking; persistent primitive reflexes (Moro and grasp), brisk lower limb reflexes, upper limb reflexes normal; speech babbling, no words; no seizures; micro-opthalmia; microcornia; bilateral congenital cataracts; persistently constricted pupils; ERG normal; slight response to bright light (has not had cataract removal); normal genitalia
Inheritance Familial, autosomal recessive
Age/Examination <12m
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 2021-04-23 16:48:55 +02:00 (CEST)
Date last edited N/A

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