Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
4q25
Alazami syndrome is an autosomal recessive disorder characterized by severe growth restriction present at birth, severely impaired intellectual development, and distinctive facial features. Some patients have been reported with skeletal and behavioral features. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 615071.1 | United Arab Emirates | Male | No | No | Intellectual disability; Failure to thri... Intellectual disability; Failure to thrive  | NM_001267039.1:c.752del | Homozygous | Autosomal, Recessive | Saleh et al. 2021 | |
| 615071.2.1 | Saudi Arabia | Male | Yes | Yes | Severe postnatal growth retardation; Int... Severe postnatal growth retardation; Intellectual disability, severe; Abnormal facial shape; Kyphoscoliosis | NM_016648.4:c.1024_1030dup | Homozygous | Autosomal, Recessive | Alazami et al. 2012 | |
| 615071.2.2 | Saudi Arabia | Female | Yes | Yes | Severe postnatal growth retardation; Int... Severe postnatal growth retardation; Intellectual disability, severe; Abnormal facial shape; Scoliosis | NM_016648.4:c.1024_1030dup | Homozygous | Autosomal, Recessive | Alazami et al. 2012 | Sibling of 615071.2.... |
| 615071.2.3 | Saudi Arabia | Male | Yes | Yes | Severe postnatal growth retardation; Int... Severe postnatal growth retardation; Intellectual disability, severe; Abnormal facial shape; Self-mutilation | NM_016648.4:c.1024_1030dup | Homozygous | Autosomal, Recessive | Alazami et al. 2012 | Relative of 615071.2... |
| 615071.2.4 | Saudi Arabia | Male | Yes | Yes | Severe postnatal growth retardation; Int... Severe postnatal growth retardation; Intellectual disability, severe; Abnormal facial shape | NM_016648.4:c.1024_1030dup | Homozygous | Autosomal, Recessive | Alazami et al. 2012 | Sibling of 615071.2.... |
| 615071.2.5 | Saudi Arabia | Male | Yes | Yes | Severe postnatal growth retardation; Int... Severe postnatal growth retardation; Intellectual disability, severe; Abnormal facial shape | NM_016648.4:c.1024_1030dup | Homozygous | Autosomal, Recessive | Alazami et al. 2012 | Sibling of 615071.2.... |
| 615071.2.6 | Saudi Arabia | Female | Yes | Yes | Severe postnatal growth retardation; Int... Severe postnatal growth retardation; Intellectual disability, severe; Abnormal facial shape; Abnormality of the Achilles tendon | NM_016648.4:c.1024_1030dup | Homozygous | Autosomal, Recessive | Alazami et al. 2012 | Relative of 615071.2... |
| 615071.2.7 | Saudi Arabia | Male | Yes | Yes | Severe postnatal growth retardation; Int... Severe postnatal growth retardation; Intellectual disability, severe; Abnormal facial shape; Abnormality of the Achilles tendon; Self-mutilation | NM_016648.4:c.1024_1030dup | Homozygous | Autosomal, Recessive | Alazami et al. 2012 | Sibling of 615071.2.... |
| 615071.2.8 | Saudi Arabia | Female | Yes | Yes | Severe postnatal growth retardation; Int... Severe postnatal growth retardation; Intellectual disability, severe; Abnormal facial shape | NM_016648.4:c.1024_1030dup | Homozygous | Autosomal, Recessive | Alazami et al. 2012 | Sibling of 615071.2.... |
| 615071.2.9 | Saudi Arabia | Female | Yes | Yes | Severe postnatal growth retardation; Int... Severe postnatal growth retardation; Intellectual disability, severe; Abnormal facial shape | NM_016648.4:c.1024_1030dup | Homozygous | Autosomal, Recessive | Alazami et al. 2012 | Sibling of 615071.2.... |
| 615071.3.1 | Algeria | Female | Yes | Yes | Intellectual disability, severe; Severe ... Intellectual disability, severe; Severe postnatal growth retardation; Mild microcephaly; Anxiety; Autistic behavior; Lower limb spasticity; Hyperactive deep tendon reflexes; Abnormal facial shape; Cutis marmorata; Bilateral tonic-clonic seizure | NM_016648.4:c.503_504dup | Homozygous | Autosomal, Recessive | Imbert-Bouteille et al. 2019 | |
| 615071.3.2 | Algeria | Female | Yes | Yes | Intellectual disability, severe; Severe ... Intellectual disability, severe; Severe postnatal growth retardation; Mild microcephaly; Anxiety; Autistic behavior; Lower limb spasticity; Hyperactive deep tendon reflexes; Abnormal facial shape; Cutis marmorata | NM_016648.4:c.503_504dup | Homozygous | Autosomal, Recessive | Imbert-Bouteille et al. 2019 | Sibling of 615071.3.... |