Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
2q34
Infantile hypotonia with psychomotor retardation and characteristic facies-2 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Affected individuals show severe global developmental delay with poor or absent speech and absent or limited ability to walk. Some patients may have seizures that can be controlled; brain structure is typically normal. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 616801.1 | Lebanon | Male | Yes | Intellectual disability; Hypotonia; ... Intellectual disability; Hypotonia; Motor delay; Failure to thrive; Strabismus; Delayed eruption of teeth; Delayed speech and language development; Single transverse palmar crease  | NM_032504.1:c.7697A>C | Homozygous | Autosomal, Recessive | Nair et al. 2018 | ||
| 616801.2 | Syria | Male | No | Yes | Neonatal hypotonia; Neurodevelopmental ... Neonatal hypotonia; Neurodevelopmental delay; Failure to thrive; Triangular face; High forehead; Strabismus | NM_032504.1:c.8116C>T | Homozygous | Autosomal, Recessive | Bramswig et al. 2018 | |
| 616801.3.1 | Saudi Arabia | Male | Yes | Yes | Hypotonia; Severe; Neurodevelopmental ... Hypotonia; Severe; Neurodevelopmental delay; Generalized myoclonic-tonic-clonic seizure; Failure to thrive; Spastic paraparesis; Death in infancy | NM_032504.1:c.520C>T | Homozygous | Autosomal, Recessive | Bramswig et al. 2018 | Two older similarly ... |
| 616801.3.2 | Saudi Arabia | Female | Yes | Yes | Hypotonia; Neurodevelopmental delay; F... Hypotonia; Neurodevelopmental delay; Failure to thrive; Microcephaly; Brachycephaly | NM_032504.1:c.520C>T | Homozygous | Autosomal, Recessive | Bramswig et al. 2018 | Sibling of 616801.3.... |
| 616801.3.3 | Saudi Arabia | Female | Yes | Yes | Intrauterine growth retardation; Hypoto... Intrauterine growth retardation; Hypotonia; Global developmental delay; Failure to thrive; Hydronephrosis | NM_032504.1:c.520C>T | Homozygous | Autosomal, Recessive | Bramswig et al. 2018 | Relative of 616801.3... |
| 616801.3.4 | Saudi Arabia | Female | Yes | Yes | Intrauterine growth retardation; Microc... Intrauterine growth retardation; Microcephaly; Flexion contracture; Global developmental delay; Failure to thrive; Recurrent aspiration pneumonia | NM_032504.1:c.520C>T | Homozygous | Autosomal, Recessive | Bramswig et al. 2018 | Sibling of 616801.3.... |
| 616801.4.1 | Egypt | Male | Yes | Yes | Psychomotor retardation; Severe; Autis... Psychomotor retardation; Severe; Autistic behavior | NM_032504.1:c.1679_1680delAC | Homozygous | Autosomal, Recessive | Bramswig et al. 2018 | |
| 616801.4.2 | Egypt | Male | Yes | Yes | Psychomotor retardation; Severe; Autis... Psychomotor retardation; Severe; Autistic behavior | NM_032504.1:c.1679_1680delAC | Homozygous | Autosomal, Recessive | Bramswig et al. 2018 | Sibling of 616801.4.... |
| 616801.5 | Egypt | Female | Yes | Yes | Infantile axial hypotonia; Psychomotor ... Infantile axial hypotonia; Psychomotor retardation; Failure to thrive; Hypoplasia of the corpus callosum | NM_032504.1:c.5671C>T | Homozygous | Autosomal, Recessive | Bramswig et al. 2018 | Similarly affected p... |
| 616801.6 | Egypt | Male | Yes | Psychomotor retardation; Failure to thr... Psychomotor retardation; Failure to thrive; Choreoathetosis; Axial hypotonia; Parietal cortical atrophy; Frontal cortical atrophy | NM_032504.1:c.8058+2T>G | Homozygous | Autosomal, Recessive | Bramswig et al. 2018 | ||
| 616801.7.1 | Egypt | Female | Yes | Yes | Global developmental delay; Failure to ... Global developmental delay; Failure to thrive; Intellectual disability; Axial hypotonia; Hypoplasia of the corpus callosum | NM_032504.1:c.601-1G>A | Homozygous | Autosomal, Recessive | Bramswig et al. 2018 | Similarly affected m... |
| 616801.7.2 | Egypt | Male | Yes | Yes | Global developmental delay; Failure to ... Global developmental delay; Failure to thrive; Intellectual disability; Axial hypotonia; Hypoplasia of the corpus callosum | NM_032504.1:c.601-1G>A | Homozygous | Autosomal, Recessive | Bramswig et al. 2018 | |
| 616801.8.1 | Palestine; United Arab... | Female | Yes | Hypotonia; Microcephaly; Abnormal facial... Hypotonia; Microcephaly; Abnormal facial shape; Global developmental delay; Absent speech; Intellectual disability; Seizure; Scoliosis | NM_032504.1:c.8525G>A | Homozygous | Autosomal, Recessive | Obeid et al. 2018 | Proband (Emirati of ... |