Table 5.
Associated clinical features in male patients with fetal-onset isolated central hypogonadism due to defects in the migration of the GnRH neuron.
| Gene | OMIM | Associated clinical features |
|---|---|---|
| KAL1 | #308700 | Bimanual synkinesia, unilateral renal agenesis |
| Less frequently: palate defects (cleft lip/palate), dental agenesis, ataxia, nystagmus, ear anomalies, hearing loss, visual defects, abnormal ocular movements | ||
| FGF8/ FGFR1 | #612702 #147950 | Cleft lip/palate, bone anomalies (syndactilia), dental agenesis |
| Less frequently: hearing loss, bimanual synkinesia, ear anomalies, midline facial defects, choanal atresia, cardiac defects, coloboma | ||
| PROK2/ PROKR2 | #610628 #244200 | Sleep disorder, high-arched palate, bimanual synkinesia, hearing loss, pectus excavatum, hypodontia, obesity, nystagmus |
| CHD7 | #612370 | Coloboma, heart defects, choanal atresia, retardation of growth, genital anomalies, and ear abnormalities |
| NELF | #614838 | None |
| HS6ST1 | #614880 | Cleft lip/palate, clinodactyly |
| WDR11 | #614858 | No |
| SEMA3A | #614897 | No |
OMIM, Online Mendelian Inheritance in Man locus, gene and phenotype numbers (http://www.ncbi.nlm.nih.gov/omim).