Congenital malformations, deformations and chromosomal abnormalities
Autosomal recessive
17q12
Hyperphosphatasia with mental retardation syndrome-4 is an autosomal recessive neurologic disorder characterized by severely delayed psychomotor development, mental retardation, lack of speech acquisition, seizures, and dysmorphic facial features. Laboratory studies show increased serum alkaline phosphatase. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 615716.1 | Saudi Arabia | Male | Yes | Yes | Hypoglycemia; Feeding difficulties in in... Hypoglycemia; Feeding difficulties in infancy; Bifid uvula; Recurrent infections; Seizure precipitated by febrile infection  | NM_033419.5:c.850C>T | Homozygous | Autosomal, Recessive | Maddirevula et al. 2018 | |
| 615716.2 | United Arab Emirates | Female | Yes | Yes | Global developmental delay; Abnormal fac... Global developmental delay; Abnormal facial shape | NM_033419.5:c.851A>G | Homozygous | Autosomal, Recessive | Saleh et al. 2021 | Affected sibling |
| 615716.3 | Saudi Arabia | Female | Yes | Yes | Megalocornea; Global developmental delay... Megalocornea; Global developmental delay; Buphthalmos; Overfolded helix; Micrognathia | NM_033419.5:c.850C>T | Homozygous | Autosomal, Recessive | Maddirevula et al. 2018 | |
| 615716.4.1 | Saudi Arabia | Female | Yes | Yes | Diaphragmatic eventration; Global develo... Diaphragmatic eventration; Global developmental delay; Microcephaly; Seizure | NM_033419.5:c.850C>T | Homozygous | Autosomal, Recessive | Maddirevula et al. 2018 | |
| 615716.4.2 | Saudi Arabia | Male | Yes | Yes | Diaphragmatic eventration; Global develo... Diaphragmatic eventration; Global developmental delay; Microcephaly; Brain atrophy; Hearing impairment; Visual impairment | NM_033419.5:c.850C>T | Homozygous | Autosomal, Recessive | Maddirevula et al. 2018 | Brother of 615716.4.... |
| 615716.5.1 | Saudi Arabia | Female | Yes | Yes | Aplasia/Hypoplasia of the cerebellar ver... Aplasia/Hypoplasia of the cerebellar vermis; Enlarged cisterna magna; Abnormal facial shape | NM_033419.5:c.850C>T | Homozygous | Autosomal, Recessive | Maddirevula et al. 2018 | |
| 615716.5.2 | Saudi Arabia | Female | Yes | Yes | Aplasia/Hypoplasia of the cerebellar ver... Aplasia/Hypoplasia of the cerebellar vermis; Enlarged cisterna magna; Abnormal facial shape | NM_033419.5:c.850C>T | Homozygous | Autosomal, Recessive | Maddirevula et al. 2018 | Sister of 615716.5.1 |
| 615716.G.1 | Lebanon | Male | No | Yes | Cleft Palate; Secondary microcephaly; Sh... Cleft Palate; Secondary microcephaly; Short stature; Seizure; Coarse facial features; Global developmental delay; Delayed speech and language development; Hyperactivity; Autistic behavior; Clinodactyly; Hypodontia; Abnormality of skin pigmentation; Abnormal heart morphology | NM_033419.5:c.203del | Homozygous | Autosomal, Recessive | Abi Farraj et al, 2019 | Twin brothers diagno... |
| 615716.G.2 | Saudi Arabia | Yes | Yes | Nonprogressive encephalopathy; Global de... Nonprogressive encephalopathy; Global developmental delay; Bulbous nose; Epicanthus | NM_033419.5:c.850C>T | Homozygous | Autosomal, Recessive | Maddirevula et al. 2018 | Three related patien... |