Mental Retardation, AD 34

Clinical Characteristics
Ocular Features: 

Patients may have upslanting lid fissures, epicanthus, ptosis, synophrys, and cortical visual impairment.

Systemic Features: 

Among the three reported individuals with the COL4A3BP mutation, one had postnatal microcephaly, widely spaced teeth, synophrys, and intellectual disability. Another had trunk hypotonia, global developmental delay, wide intermamillary distance, 2-3 toe syndactyly, tonic-clonic seizures, and myopathic facies. The third had a broad-based gait, coarse and curly hair, tonic-clonic seizures, and global developmental delay. 


In a screening study of 1133 children with severe undiagnosed developmental conditions, three males were found with heterozygous mutations in the COL4A3BP gene (5q13).  Family history data are not given for these three individuals but autosomal dominant transmission seems to be a reasonable assumption.

Treatment Options: 

Supportive care is required but no other treatment has been reported.

Article Title: 


Deciphering Developmental Disorders Study. Large-scale discovery of novel genetic causes of developmental disorders. Nature. 2015 Mar 12;519(7542):223-8.

PubMedID: 25533962