- Premature ovarian insufficiency (HP:0008209): Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian insuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea. Evidence: IEA. (OMIM:615300)
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: PCS. Frequency: 1/17. (PMID:32767731)
- Hypoplasia of the uterus (HP:0000013): Underdevelopment of the uterus. Evidence: PCS. Frequency: 5/11. (PMID:32767731)
- Strabismus (HP:0000486): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: PCS. Frequency: 1/17. (PMID:32767731)
- Tarlov cyst (HP:0025643): A cerebrospinal fluid-filled nerve root cyst most often localized in the sacral spine. Evidence: PCS. Frequency: 1/17. (PMID:32767731)
- Gait ataxia (HP:0002066): A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall. Evidence: PCS. Frequency: 1/17. (PMID:32767731)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: PCS. Frequency: 2/17. (PMID:32767731)
- Osteoporosis (HP:0000939): Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). Evidence: PCS. Frequency: 1/17. (PMID:32767731)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: PCS. Frequency: 2/17. (PMID:32767731)
- Progressive sensorineural hearing impairment (HP:0000408): A progressive form of sensorineural hearing impairment. Evidence: PCS. Frequency: 17/17. Onset: Childhood onset (HP:0011463). (PMID:32767731)
- Increased circulating gonadotropin level (HP:0000837): Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland. Evidence: PCS. Frequency: 10/11. (PMID:32767731)
- Disproportionate tall stature (HP:0001519): A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim. Evidence: PCS. Frequency: 3/17. (PMID:32767731)
- Secondary amenorrhea (HP:0000869). Evidence: PCS. Frequency: 2/10. (PMID:32767731)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:32767731)
- Oligomenorrhea (HP:0000876): Infrequent menses (less than 6 per year or more than 35 days between cycles). Evidence: PCS. Frequency: 2/10. (PMID:32767731)
- Bicornuate uterus (HP:0000813): The presence of a bicornuate uterus. Evidence: PCS. Frequency: 1/11. (PMID:32767731)
- Decreased serum estradiol (HP:0008214): A reduction below normal concentration of estradiol in the circulation. Evidence: PCS. Frequency: 3/11. (PMID:32767731)
- Cubitus valgus (HP:0002967): Abnormal positioning in which the elbows are turned out. Evidence: PCS. Frequency: 1/17. (PMID:32767731)
- Obesity (HP:0001513): Accumulation of substantial excess body fat. Evidence: PCS. Frequency: 1/17. (PMID:32767731)
- Primary amenorrhea (HP:0000786). Evidence: IEA. Frequency: 6/10. (OMIM:615300)
- Hypoplasia of the ovary (HP:0008724): Developmental hypoplasia of the ovary. Evidence: PCS. Frequency: 2/11. (PMID:32767731)
These phenotypes are associated with the disease Perrault syndrome 4 (OMIM:615300).