| 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:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
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| HP:0000308 | Microretrognathia | |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000541 | Detached retina | |
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| HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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| HP:0000831 | Insulin-resistant diabetes mellitus | |
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| HP:0000833 | Glucose intolerance | |
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| HP:0000956 | Acanthosis nigricans | |
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| HP:0001397 | Hepatic steatosis | |
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| HP:0001635 | Congestive heart failure | "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators] |
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| HP:0001714 | Ventricular hypertrophy | |
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| HP:0001735 | Pancreatitis, acute | |
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| HP:0002155 | Hypertriglyceridemia | |
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| HP:0003016 | Metaphyseal widening | "Abnormal widening of the metaphyseal regions of long bones." [HPO:curators] |
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| HP:0003076 | Glycosuria | "The excretion of abnormal amounts of glucose in the urine, generally resulting in osmotic diuresis." [HPO:curators] |
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| HP:0003100 | Thin long bones | |
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| HP:0005112 | Dilatation of the abdominal aorta | |
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| HP:0007875 | Congenital blindness | |
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| HP:0008193 | Primary gonadal insufficiency | |
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| HP:0008232 | Elevated follicle stimulating hormone | |
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| HP:0008890 | Severe short-limb dwarfism | |
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| HP:0010579 | Cone-shaped epiphyses | |
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| HP:0010609 | Skin tags | |
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| HP:0010620 | Prominent malar region | "Increased prominence of the malar region (cheeks)." [HPO:curators] |
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| HP:0011969 | Elevated luteinizing hormone | "An elevated concentration of luteinizing hormone in the blood." [HPO:probinson] |
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