Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations and deformations of the musculoskeletal system
Autosomal recessive
15q26.1
Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia, macrocephaly and facial dysmorphism. Dysmorphic features consist of macrocephaly with frontal bossing, hypertelorism, flat malar region, low-set ears and short neck. [From Orphanet]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 607131.1.1 | Oman | Male | Yes | Yes | Macrocephaly; Frontal bossing; Hyperte... Macrocephaly; Frontal bossing; Hypertelorism; Malar flattening; Pectus excavatum; Clinodactyly; Epiphyseal dysplasia; Lymphedema  | NM_198525.3:c.3179A>G | Homozygous | Autosomal, Recessive | Al-Gazali et al. 1998; Bayoumi et al. 2001; Eyre et al. 2002; Ali et al. 2012 | |
| 607131.1.2 | Oman | Female | Yes | Yes | Macrocephaly; Frontal bossing; Hyperte... Macrocephaly; Frontal bossing; Hypertelorism; Malar flattening; Pectus excavatum; Clinodactyly; Epiphyseal dysplasia; Lymphedema | NM_198525.3:c.3179A>G | Homozygous | Autosomal, Recessive | Al-Gazali et al. 1998; Bayoumi et al. 2001; Eyre et al. 2002; Ali et al. 2012 | Sibling of 607131.1.... |
| 607131.1.3 | Oman | Male | Yes | Yes | Macrocephaly; Frontal bossing; Hyperte... Macrocephaly; Frontal bossing; Hypertelorism; Malar flattening; Pectus excavatum; Clinodactyly; Epiphyseal dysplasia | NM_198525.3:c.3179A>G | Homozygous | Autosomal, Recessive | Al-Gazali et al. 1998; Bayoumi et al. 2001; Eyre et al. 2002; Ali et al. 2012 | Sibling of 607131.1.... |
| 607131.1.4 | Oman | Male | Yes | Yes | Macrocephaly; Frontal bossing; Hyperte... Macrocephaly; Frontal bossing; Hypertelorism; Malar flattening; Pectus excavatum; Clinodactyly; Epiphyseal dysplasia | NM_198525.3:c.3179A>G | Homozygous | Autosomal, Recessive | Al-Gazali et al. 1998; Bayoumi et al. 2001; Eyre et al. 2002; Ali et al. 2012 | Sibling of 607131.1.... |
| 607131.1.5 | Oman | Male | Yes | Yes | Macrocephaly; Frontal bossing; Hyperte... Macrocephaly; Frontal bossing; Hypertelorism; Malar flattening; Pectus excavatum; Clinodactyly; Epiphyseal dysplasia | NM_198525.3:c.3179A>G | Homozygous | Autosomal, Recessive | Al-Gazali et al. 1998; Bayoumi et al. 2001; Eyre et al. 2002; Ali et al. 2012 | First cousin of 6071... |