Diseases of the eye and adnexa
Disorders of choroid and retina
Autosomal recessive
8q21.3-q22.1
Mirhosseini-Holmes-Walton syndrome clinically resembles Cohen syndrome, and whether these are clinically and genetically uniform entities has been disputed. These two disorders diverge considering the main clinical features only in respect to intermittent neutropenia, not reported in Mirhosseini-Holmes-Walton syndrome.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 268050.1.1 | Lebanon | Male | Yes | Yes | Microcephaly; Postnatal growth retardat... Microcephaly; Postnatal growth retardation; Intellectual disability; Hypotonia; Chorioretinal dystrophy; Myopia  | NM_017890.4:c.9406-1G>T | Homozygous | Autosomal, Recessive | Hennies et al. 2004 | Brother of 268050.1.... |
| 268050.1.2 | Lebanon | Male | Yes | Yes | Microcephaly; Postnatal growth retarda... Microcephaly; Postnatal growth retardation; Intellectual disability; Hypotonia; Chorioretinal dystrophy; Myopia | NM_017890.4:c.9406-1G>T | Homozygous | Autosomal, Recessive | Hennies et al. 2004 | Brother of 268050.1.... |
| 268050.1.3 | Lebanon | Male | Yes | Yes | Microcephaly; Postnatal growth retard... Microcephaly; Postnatal growth retardation; Intellectual disability; Hypotonia; Chorioretinal dystrophy; Myopia | NM_017890.4:c.9406-1G>T | Homozygous | Autosomal, Recessive | Hennies et al. 2004 | Cousin of 268050.1.1... |
Horn et al. (2000) reported 2 brothers and a cousin from a multiply consanguineous kindred of Lebanese descent with a syndrome of microcephaly, progressive postnatal growth deficiency, mental retardation, hypotonia, chorioretinal dystrophy, and myopia. Homozygosity mapping localized the gene responsible for this condition to a 26.8-cM region on chromosome 8q21.3-q22.1 that overlaps the refined gene region for Cohen syndrome. The authors hypothesized that the syndrome in this family, Cohen syndrome, and Mirhosseini-Holmes-Walton syndrome may be allelic.