| 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:0000078 | Abnormality of the genital tract | |
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| HP:0000113 | Polycystic kidney | |
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| HP:0000114 | Proximal renal tubule defect | |
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| HP:0000256 | Macrocephaly | "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson] |
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| HP:0000260 | Wide anterior fontanel | "Enlargement of the anterior fontanelle with respect to age-dependent norms." [HPO:curators] |
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| HP:0000348 | High forehead | "An abnormally increased height of the forehead." [HPO:curators] |
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| HP:0000377 | Abnormal form of ears | "Abnormal form of the out part of the ear (also referred to as the auricle or pinna)." [HPO:curators] |
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| HP:0000506 | Telecanthus | "An abnormally increased distance between the medial canthi (angle between eyelids) of the eyelids." [HPO:curators] |
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| HP:0000519 | Congenital cataract | "A congenital `cataract` (HP:0000518)." [HPO:probinson] |
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| HP:0000803 | Renal cortical cysts | |
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| HP:0000952 | Jaundice | "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators] |
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| HP:0001252 | Muscular hypotonia | "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] |
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| HP:0001302 | Pachygyria | "A congenital abnormality of the cerebral hemisphere chacterized by unusually thick gyrations (convolutions) of the cerebral cortex." [HPO:curators] |
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| HP:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
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| HP:0001325 | Hypoglycemic coma | |
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| HP:0001397 | Hepatic steatosis | |
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| HP:0001943 | Hypoglycemia | "A lower than normal level of blood glucose." [HPO:curators] |
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| HP:0001999 | Facial dysmorphism | |
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| HP:0002013 | Vomiting | |
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| HP:0002018 | Nausea | |
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| HP:0002089 | Pulmonary hypoplasia | |
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| HP:0002098 | Respiratory distress | |
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| HP:0002171 | Gliosis | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002614 | Hepatic periportal necrosis | |
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| HP:0002909 | Generalized aminoaciduria | |
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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:0003150 | Glutaric aciduria | |
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| HP:0003219 | Ethylmalonic aciduria | |
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| HP:0003490 | Defective dehydrogenation of isovaleryl CoA and butyryl CoA | |
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| HP:0003530 | Glutaric acidemia | |
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| HP:0003647 | Electron transfer flavoprotein-ubiquinone oxidoreductase defect | |
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| HP:0003811 | Neonatal death | |
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| HP:0005280 | Depressed nasal root and bridge | |
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