Premature ovarian failure is heterogeneous disorder. in which amenorrhea associated with elevated levels of serum gonadotropins occurs long before the age of 40 years. [From Mendelian.co]
POF2B is known to result from mutations in the POF1B gene.
Endocrine, nutritional and metabolic diseases
Disorders of other endocrine glands
X-linked recessive
Xq21.1
Premature ovarian failure is heterogeneous disorder. in which amenorrhea associated with elevated levels of serum gonadotropins occurs long before the age of 40 years. [From Mendelian.co]
POF2B is known to result from mutations in the POF1B gene.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 300604.1.1 | Lebanon | Female | Yes | Yes | Tall stature; Primary amenorrhea; Dela... Tall stature; Primary amenorrhea; Delayed puberty; Osteoporosis; Fragile teeth  | NM_001324036.2:c.139T>C | Homozygous | X-linked, Recessive | Lacombe et al. 2006 | Multiply consanguine... |
| 300604.1.2 | Lebanon | Female | Yes | Yes | Primary amenorrhea; Delayed puberty; ... Primary amenorrhea; Delayed puberty; Osteoporosis; Fragile teeth | NM_001324036.2:c.139T>C | Homozygous | X-linked, Recessive | Lacombe et al. 2006 | Sister of 300604.1.1 |
| 300604.1.3 | Lebanon | Female | Yes | Yes | Primary amenorrhea; Delayed puberty; Primary amenorrhea; Delayed puberty; | NM_001324036.2:c.139T>C | Homozygous | X-linked, Recessive | Lacombe et al. 2006 | Sister of 300604.1.1 |
| 300604.1.4 | Lebanon | Female | Yes | Yes | Primary amenorrhea; Delayed puberty; Primary amenorrhea; Delayed puberty; | NM_001324036.2:c.139T>C | Homozygous | X-linked, Recessive | Lacombe et al. 2006 | Sister of 300604.1.1 |
| 300604.1.5 | Lebanon | Female | Yes | Yes | Primary amenorrhea; Delayed puberty; Primary amenorrhea; Delayed puberty; | NM_001324036.2:c.139T>C | Homozygous | X-linked, Recessive | Lacombe et al. 2006 | Sister of 300604.1.1 |