From:  Biallelic variants in consanguineous families causing neurodevelopmental disorders

 Phenotypes of the patients included in this study.

Family#Patient’s age at recruitment timePhenotypes
12 yearsMicrocephaly, hearing disability, seizure
22 yearsLeukodystrophy, neuroregression, muscular regression
32 yearsDevelopmental delay, seizure
410 yearsNeuroregression, muscular regression
5 years
57 yearsRecurrent vomiting and organic acidemia, family history of death shortly after birth
63 yearsCongenital cataract and developmental delay
75 monthsModerate thrombocytopenia, unilateral missing radius
Absent left thumb, right rudimentary thumb and single kidney
81 yearSkin lesion, dermatitis of immunodeficiency
91 monthMultiple long bone fractures and deformities
107 yearsDevelopmental delay, ADHD