Joubert syndrome-30 (JBTS30) is caused by homozygous or compound heterozygous mutation in the ARMC9 gene on chromosome 2q37 [From OMIM].
Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations of the nervous system
Autosomal recessive
2q37.1
Joubert syndrome-30 (JBTS30) is caused by homozygous or compound heterozygous mutation in the ARMC9 gene on chromosome 2q37 [From OMIM].
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 617622.1.1 | Saudi Arabia | Male | Global developmental delay; Apnea; Tachy... Global developmental delay; Apnea; Tachypnea; Ptosis; Abnormality of eye movement  | NM_005932.4:c.1027A>G | Homozygous | Autosomal, Recessive | Van De Weghe et al. 2017 | Proband | ||
| 617622.2.1 | Saudi Arabia | Female | Yes | Global developmental delay; Retinal dyst... Global developmental delay; Retinal dystrophy; Abnormality of eye movement; Polydactyly; Ptosis; Wide nasal bridge; Thin upper lip vermilion; 2-3 toe syndactyly; Molar tooth sign on MRI; Superior cerebellar dysplasia | NM_025139.6:c.1559C>T | Homozygous | Autosomal, Recessive | Van De Weghe et al. 2017 | Proband | |
| 617622.2.2 | Saudi Arabia | Male | Yes | Global developmental delay; Ptosis; Mola... Global developmental delay; Ptosis; Molar tooth sign on MRI; Superior cerebellar dysplasia; Thick corpus callosum; Apnea; Tachypnea | NM_025139.6:c.1559C>T | Homozygous | Autosomal, Recessive | Van De Weghe et al. 2017 | Affected relative of... | |
| 617622.3 | Saudi Arabia | Male | No | Yes | Delayed speech and language development;... Delayed speech and language development; Ataxia; Intellectual disability | NM_001352754.2:c.51+5G>T | Homozygous | Autosomal, Recessive | Monies et al. 2019 | |
| 617622.4 | Saudi Arabia | Male | Delayed gross motor development; Molar t... Delayed gross motor development; Molar tooth sign on MRI; Hypotonia | NM_001352754.2:c.51+5G>T | Homozygous | Autosomal, Recessive | Monies et al. 2019 |