Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
13q32.3-q33.1
Infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) is a severe autosomal recessive neurologic disorder with onset at birth or in early infancy. Affected individuals show very poor, if any, normal cognitive development. Some patients are never learn to sit or walk independently. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 615419.1 | Lebanon | Male | Delayed speech and language development;... Delayed speech and language development; Intellectual disability; Hypotonia; Motor delay; Developmental regression; Abnormality of the mitochondrion  | NM_052867.4:c.3056dupT | Homozygous | Autosomal, Recessive | Nair et al. 2018 | |||
| 615419.2.1 | Saudi Arabia | Male | Yes | Yes | Absent speech; Severe muscular hypotoni... Absent speech; Severe muscular hypotonia; Chronic constipation; Global developmental delay | NM_001350748.2:c.1489del | Homozygous | Autosomal, Recessive | Al-Sayed et al. 2013 | |
| 615419.2.2 | Saudi Arabia | Male | Yes | Yes | Absent speech; Severe muscular hypotoni... Absent speech; Severe muscular hypotonia; Chronic constipation; Global developmental delay | NM_001350748.2:c.1489del | Homozygous | Autosomal, Recessive | Al-Sayed et al. 2013 | Sibling of 615419.2.... |
| 615419.2.3 | Saudi Arabia | Male | Yes | Yes | Absent speech; Severe muscular hypotoni... Absent speech; Severe muscular hypotonia; Chronic constipation; Global developmental delay | NM_001350748.2:c.1489del | Homozygous | Autosomal, Recessive | Al-Sayed et al. 2013 | First cousin once re... |
| 615419.3.1 | Saudi Arabia | Female | Yes | Yes | Delayed speech and language development;... Delayed speech and language development; Infantile muscular hypotonia ; Seizure; Hyperactivity; Chronic constipation; Cognitive impairment | NM_001350748.2:c.3947G>T | Homozygous | Autosomal, Recessive | Al-Sayed et al. 2013 | |
| 615419.3.2 | Saudi Arabia | Female | Yes | Yes | Delayed speech and language development;... Delayed speech and language development; Infantile muscular hypotonia ; Seizure; Hyperactivity; Chronic constipation; Cognitive impairment | NM_001350748.2:c.3947G>T | Homozygous | Autosomal, Recessive | Al-Sayed et al. 2013 | Sibling of 615419.3.... |
| 615419.3.3 | Saudi Arabia | Female | Yes | Yes | Delayed speech and language development;... Delayed speech and language development; Infantile muscular hypotonia ; Seizure; Hyperactivity; Chronic constipation; Cognitive impairment | NM_001350748.2:c.3947G>T | Homozygous | Autosomal, Recessive | Al-Sayed et al. 2013 | Sibling of 615419.3.... |
| 615419.4.1 | Lebanon | Male | Yes | Yes | Global developmental delay; Hypotonia; Global developmental delay; Hypotonia; | NM_052867.4:c.3056dupT | Homozygous | Autosomal, Recessive | Bramswig et al. 2018 | One sibling and two ... |
| 615419.4.2 | Lebanon | Female | Yes | Yes | Global developmental delay; Hypotonia; ... Global developmental delay; Hypotonia; Absent speech; | NM_052867.4:c.3056dupT | Homozygous | Autosomal, Recessive | Bramswig et al. 2018 | Sibling of 615419.4.... |
| 615419.5 | Tunisia | Female | Yes | Poor suck; Feeding difficulties; Gener... Poor suck; Feeding difficulties; Generalized non-motor (absence) seizure; Intellectual disability; Axial hypotonia; Limb dystonia; Growth delay | NM_001350748.2:c.3643C>T | Homozygous | Autosomal, Recessive | Bramswig et al. 2018 | ||
| 615419.6 | Tunisia | Female | Yes | No | Bilateral tonic-clonic seizure with gene... Bilateral tonic-clonic seizure with generalized onset; Chorea; Intellectual disability; Hypertonia; Failure to thrive | NM_001350748.2:c.2522dupA | Homozygous | Autosomal, Recessive | Bramswig et al. 2018 | Had a similarly affe... |
| 615419.7 | Saudi Arabia | Male | No | Yes | Infantile axial hypotonia; Neurodevelop... Infantile axial hypotonia; Neurodevelopmental delay; Bilateral tonic-clonic seizure with generalized onset; | NM_001350748.2:c.4237C>T | Homozygous | Autosomal, Recessive | Bramswig et al. 2018 | |
| 615419.8.1 | Saudi Arabia | Female | Yes | Yes | Neurodevelopmental delay; Generalized h... Neurodevelopmental delay; Generalized hypotonia; Dystonia; Microcephaly; Scoliosis; Encephalopathy | NM_001350748.2:c.321G>A | Homozygous | Autosomal, Recessive | Bramswig et al. 2018 | |
| 615419.8.2 | Saudi Arabia | Male | Yes | Yes | Generalized hypotonia; Failure to thriv... Generalized hypotonia; Failure to thrive; | NM_001350748.2:c.321G>A | Homozygous | Autosomal, Recessive | Bramswig et al. 2018 | Sibling of 615419.8.... |
| 615419.9 | Egypt | Female | No | Yes | Neurodevelopmental delay; Triangular f... Neurodevelopmental delay; Triangular face; High forehead; Strabismus | NM_001350748.2:c.2845del | Homozygous | Autosomal, Recessive | Bramswig et al. 2018 | |
| 615419.10.1 | Egypt | Male | Yes | Yes | Global developmental delay; Failure to... Global developmental delay; Failure to thrive; High forehead; Hypotonia; Autistic behavior; Seizure | NM_001350748.2:c.2758del | Homozygous | Autosomal, Recessive | Bramswig et al. 2018 | |
| 615419.10.2 | Egypt | Female | Yes | Yes | Global developmental delay; Failure to ... Global developmental delay; Failure to thrive; Strabismus; Hypotonia; Autistic behavior; Seizure | NM_001350748.2:c.2758del | Homozygous | Autosomal, Recessive | Bramswig et al. 2018 | Sibling of 615419.10... |
| 615419.11 | Egypt | Male | Yes | Yes | Psychomotor retardation; Severe; Failu... Psychomotor retardation; Severe; Failure to thrive; Seizure; Autistic behavior; Death in childhood | NM_001350748.2:c.2758del | Homozygous | Autosomal, Recessive | Bramswig et al. 2018 | Had a similarly affe... |
| 615419.12 | Egypt | Female | No | Yes | Psychomotor retardation; Severe; Intel... Psychomotor retardation; Severe; Intellectual disability; Autistic behavior; Hypotonia; Irritability; Cerebral cortical atrophy; Hypoplasia of the corpus callosum | NM_001350748.2:c.537del | Homozygous | Autosomal, Recessive | Bramswig et al. 2018 | |
| 615419.13 | Morocco | Male | No | No | Global developmental delay; Strabismus... Global developmental delay; Strabismus; Psychomotor retardation; Cerebellar atrophy | NM_001350748.2:c.4420A>T | Heterozygous | Autosomal, Dominant | Bramswig et al. 2018 | |
| 615419.14 | Lebanon | Unknown | Yes | Hypertelorism; Short nose; Short neck; F... Hypertelorism; Short nose; Short neck; Femoral bowing; Metaphyseal widening | NM_001350748.2:c.1567A>G | Homozygous | Autosomal, Recessive | Jalkh et al. 2019 | ||
| 615419.15 | United Arab Emirates | Male | Yes | No | Global developmental delay; Failure to t... Global developmental delay; Failure to thrive; Respiratory failure; Cerebral palsy; Seizure; Scoliosis; Generalized limb muscle atrophy; Dental crowding; Abnormal facial shape; Hypotonia | NM_001350748.2:c.2621_2622insATACTAAA | Homozygous | Autosomal, Recessive | Mahfouz et al. 2020 |