| 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:0000137 | Abnormality of the ovaries | |
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| HP:0000518 | Cataract | "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson] |
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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:0000868 | Decreased fertility in females | |
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| HP:0000939 | Osteoporosis | "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, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators] |
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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:0001249 | Mental retardation | |
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| HP:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] |
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| HP:0001254 | Lethargy | |
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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:0001288 | Gait disturbance | "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators] |
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| HP:0001337 | Tremor | "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators] |
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| HP:0001394 | Cirrhosis | |
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| HP:0001399 | Hepatic failure | |
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| HP:0001410 | Decreased liver function | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001824 | Weight loss | |
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| HP:0001878 | Hemolytic anemia | |
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| HP:0001892 | Bleeding diathesis | "An abnormal susceptibility to bleeding because of a defect in coagulation." [HPO:curators] |
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| HP:0001942 | Metabolic acidosis | |
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| HP:0001943 | Hypoglycemia | "A lower than normal level of blood glucose." [HPO:curators] |
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| HP:0002013 | Vomiting | |
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| HP:0002014 | Diarrhea | |
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| HP:0002017 | Nausea and vomiting | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0003355 | Abnormal urinary amino-acid findings | |
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| HP:0003811 | Neonatal death | |
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| HP:0004915 | impaired galactose metabolism | |
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| HP:0004918 | hyperchloremic metabolic acidosis | |
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| HP:0008209 | Premature ovarian failure | |
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| HP:0009088 | Speech articulation difficulties | |
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| HP:0011098 | Speech apraxia | "A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur." [HPO:probinson] |
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| HP:0011968 | Feeding difficulties | "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] |
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| HP:0012023 | Galactosuria | "Elevated concentration of `galactose` (CHEBI:28260) in the urine." [HPO:probinson] |
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| HP:0012024 | Hypergalactosemia | "Elevated concentration of `galactose` (CHEBI:28260) in the blood." [HPO:probinson] |
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| HP:0100806 | Sepsis | |
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| HP:0410061 | Increased level of galactitol in plasma | "An increase in the level of galactitol in the plasma." [PMID:11092512, PMID:7671965] |
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| HP:0410062 | Increased level of galactitol in urine | "An increase in the level of galactitol in the urine." [PMID:11092512, PMID:7671965] |
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| HP:0410063 | Increased level of galactonate in red blood cells | "An increase in the level of galactonate in the red blood cells." [PMID:14680973] |
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| HP:0410064 | Increased level of galactitol in red blood cells | "An increase in the level of galactitol in the red blood cells." [PMID:14680973] |
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