Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations of the nervous system
Autosomal recessive
16p12.1
Joubert syndrome-26 (JBTS26) is an autosomal recessive ciliopathy characterized by global developmental delay associated with cerebellar hypoplasia and variable additional abnormalities, including hypotonia and possibly pituitary abnormalities. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 616784.1.1 | Saudi Arabia | Female | Yes | Yes | Tachypnea; Neonatal hyperbilirubinemia; ... Tachypnea; Neonatal hyperbilirubinemia; Recurrent upper respiratory tract infections; Global developmental delay; Ectopic posterior pituitary; Anterior pituitary hypoplasia; Cerebellar vermis hypoplasia; Molar tooth sign on MRI; Central hypothyroidism; Short stature; Hypotonia  | NM_015202.5:c.2674C>T | Homozygous | Autosomal, Recessive | Sanders et al. 2015 | |
| 616784.1.2 | Saudi Arabia | Female | Yes | Yes | Recurrent upper respiratory tract infect... Recurrent upper respiratory tract infections; Global developmental delay; Cerebellar vermis hypoplasia; Molar tooth sign on MRI; Hypotonia; Seizure; Ptosis | NM_015202.5:c.2674C>T | Homozygous | Autosomal, Recessive | Sanders et al. 2015 | Sibling of 616784.1.... |
| 616784.1.3 | Saudi Arabia | Male | Yes | Yes | Tachypnea; Global developmental delay; E... Tachypnea; Global developmental delay; Ectopic posterior pituitary; Anterior pituitary hypoplasia; Cerebellar vermis hypoplasia; Molar tooth sign on MRI; Bilateral cleft lip and palate; Micropenis; Neonatal respiratory distress | NM_015202.5:c.2674C>T | Homozygous | Autosomal, Recessive | Sanders et al. 2015 | Sibling of 616784.1.... |
| 616784.2 | Saudi Arabia | Male | No | Yes | Global developmental delay; Molar tooth ... Global developmental delay; Molar tooth sign on MRI; Aplasia cutis congenita; Cryptorchidism; Abnormal atrioventricular valve morphology; Postaxial polydactyly; Mild microcephaly | NM_015202.5:c.1672C>T | Homozygous | Autosomal, Recessive | Maddirevula et al. 2019 |