The most common characteristics include a distinct craniofacial phenotype (microcephaly, micrognathia, short philtrum, prominent glabella, ocular hypertelorism, dysplastic ears and periauricular tags), growth restriction, intellectual disability, muscle hypotonia, seizures, and congenital heart defects. Less common characteristics include hypospadias, colobomata of the iris, renal anomalies, and deafness. Antibody deficiencies are also common, including common variable immunodeficiency and IgA deficiency. T-cell immunity is normal.
Wolf–Hirschhorn syndrome
Testicular dysgenesis syndrome
Dubowitz syndrome
Weissenbacher–Zweymüller syndrome
Marden–Walker syndrome
Roberts syndrome
Keppen–Lubinsky syndrome
Kallmann syndrome