Table 1 Clinical features of the five patients diagnosed with Joubert syndrome
From: Novel variants identified in five Chinese families with Joubert Syndrome: a case report
Features | Patient 1 (TCTN2-JS) | Patient 2 (CPLANE1-JS) | Patient 3 (INPP5E-JS) | Patient 4 (NPHP1-JS) | Patient 5 (CC2D2A-JS) |
|---|---|---|---|---|---|
Age at diagnosis | 3 months | 9 months | 7 months | 5 years | 7 months |
Sex | Male | Female | Male | Male | Male |
MTS | + | + | + | mild | mild |
Dystonia | Hypotonia | Hypotonia | Hypotonia | Hypertonia | Hypertonia |
Developmental delay | + | + | + | + | + |
Ocular Manifestation | Strabismus | Strabismus/ nystagmus | Nystagmus | ||
Renal involvement | |||||
Liver involvement | |||||
Seizure | + | ||||
Craniofacial dysmorphisms | + | ||||
Postaxial polydactyly | |||||
Others | Hearing impairment | Hearing impairment |