Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
4q24
Infantile hypotonia with psychomotor retardation and characteristic facies-3 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Most affected individuals show very poor, if any, normal psychomotor development, poor speech, and inability to walk independently. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 616900.1.1 | Saudi Arabia | Male | Yes | Yes | Global developmental delay; Seizure; Abn... Global developmental delay; Seizure; Abnormal facial shape; Hypotonia; Ventricular septal defect; Death in childhood  | NM_001163435.3:c.1897+1G>A | Homozygous | Autosomal, Recessive | Alazami et al. 2015; Bhoj et al. 2016 | Proband also had 4 m... |
| 616900.1.2 | Saudi Arabia | Female | Yes | Yes | Global developmental delay; Seizure; Abn... Global developmental delay; Seizure; Abnormal facial shape; Hypotonia; Ventricular septal defect | NM_001163435.3:c.1897+1G>A | Homozygous | Autosomal, Recessive | Alazami et al. 2015; Bhoj et al. 2016 | Sister of 616900.1.1 |
| 616900.2.1 | Lebanon | Female | Yes | Yes | Profound global developmental delay; Dev... Profound global developmental delay; Developmental regression; Areflexia; Severe muscular hypotonia; Focal-onset seizure; Cerebral visual impairment; Respiratory insufficiency; Nasogastric tube feeding; Turricephaly; Osteoporosis | NM_001163435.3:c.1363A>T | Homozygous | Autosomal, Recessive | Chong et al. 2016 | Proband also had 2 b... |
| 616900.2.2 | Lebanon | Female | Yes | Yes | Profound global developmental delay; Dev... Profound global developmental delay; Developmental regression; Areflexia; Severe muscular hypotonia; Tonic seizure; Visual impairment; Respiratory insufficiency; Nasogastric tube feeding; Fasciculations; Osteoporosis; Death in childhood | NM_001163435.3:c.1363A>T | Homozygous | Autosomal, Recessive | Chong et al. 2016 | Double first cousin ... |
| 616900.3 | Egypt | Male | Yes | Yes | Profound global developmental delay; Are... Profound global developmental delay; Areflexia; Severe muscular hypotonia; Optic atrophy; Esotropia; Hypoventilation; Nasogastric tube feeding; Right aortic arch; Missing ribs; Turricephaly; Hypertrichosis | NM_001163435.3:c.1532G>A | Homozygous | Autosomal, Recessive | Chong et al. 2016 | Proband had a simila... |
| 616900.4 | Syria | Male | No | No | Severe global developmental delay; Absen... Severe global developmental delay; Absent speech; Hypoplasia of the corpus callosum; Ventriculomegaly; Periventricular leukomalacia; Severe muscular hypotonia; Areflexia; Seizure; Epicanthus; Wide nasal bridge; Deeply set eye; Autism; Bipolar affective disorder; High palate; Scoliosis | NM_001163435.3:c.831_832insTA | Homozygous | Autosomal, Recessive | Bhoj et al. 2016 | |
| 616900.5.1 | Algeria | Male | Yes | Yes | Severe global developmental delay; Absen... Severe global developmental delay; Absent speech; Abnormal periventricular white matter morphology; Broad forehead; Bulbous nose; Open mouth; Thick vermilion border; Mandibular prognathia; Hearing impairment; Behavioral abnormality; Delayed skeletal maturation | NM_001163435.3:c.1370del | Homozygous | Autosomal, Recessive | Bhoj et al. 2016 | Proband |
| 616900.5.2 | Algeria | Female | Yes | Yes | Moderate global developmental delay; Poo... Moderate global developmental delay; Poor speech; Abnormal periventricular white matter morphology; Broad forehead; Macrocephaly; Short neck; Delayed skeletal maturation | NM_001163435.3:c.1370del | Homozygous | Autosomal, Recessive | Bhoj et al. 2016 | Sister of 616900.5.1 |