| HP:0000007 | Autosomal recessive inheritance | "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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| HP:0000013 | Hypoplastic uterus | |
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| HP:0000044 | Hypogonadotrophic hypogonadism | "Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH)." [HPO:curators] |
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| HP:0000054 | Micropenis | |
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| HP:0000325 | Triangular facies | |
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| HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
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| HP:0000411 | Protruding ears | |
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| HP:0000426 | Prominent nasal bridge | |
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| HP:0000448 | Prominent nose | |
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| HP:0000674 | Anodontia | "The congenital absence of all teeth." [HPO:curators] |
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| HP:0000709 | Psychosis | "A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs." [HPO:curators] |
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| HP:0000738 | Hallucinations | |
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| HP:0000815 | Hypergonadotropic hypogonadism | "Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay." [HPO:curators] |
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| HP:0000819 | Diabetes mellitus | |
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| HP:0000821 | Hypothyroidism | |
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| HP:0000831 | Insulin-resistant diabetes mellitus | |
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| HP:0001249 | Mental retardation | |
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| HP:0001260 | Dysarthria | "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators] |
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| HP:0001266 | Choreoathetosis | |
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| HP:0001268 | Mental deterioration | |
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| HP:0001332 | Dystonia | "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [HPO:curators] |
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| HP:0001596 | Alopecia | "Loss of hair from the head or body." [HPO:curators] |
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| HP:0002071 | Extrapyramidal signs | |
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| HP:0002213 | Fine hair | |
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| HP:0002925 | Increased serum thyroid-stimulating hormone (TSH) | |
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| HP:0003077 | Hyperlipidemia | |
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| HP:0003812 | Phenotypic variability | |
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| HP:0005135 | T-wave abnormalities | |
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| HP:0008070 | Sparse hair | |
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| HP:0008209 | Premature ovarian failure | |
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| HP:0008214 | Decreased serum estradiol | |
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| HP:0008619 | Hearing loss, sensorineural, bilateral | |
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| HP:0008669 | Impaired spermatogenesis | |
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| HP:0008697 | Rudimentary fallopian tubes | |
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| HP:0008734 | Decreased testicular size | |
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| HP:0010464 | Streak ovary | "A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequenty mesonephric or hilar cells." [HPO:curators] |
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| HP:0030353 | Decreased serum insulin-like growth factor 1 | "A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation." [HPO:probinson] |
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| HP:0040171 | Decreased serum testosterone level | |
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| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | "Absence or underdevelopment of the eyebrow." [HPO:probinson] |
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