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:0000365 | Hearing loss | |
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HP:0000951 | Abnormality of the skin | "An abnormality of the `skin` (FMA:7163)." [HPO:probinson] |
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HP:0000975 | Hyperhidrosis | "An abnormally increased perspiration." [HPO:probinson] |
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HP:0001249 | Mental retardation | |
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HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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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: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:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
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HP:0001298 | Encephalopathy | |
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HP:0001508 | Failure to thrive | |
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HP:0001510 | Growth retardation | |
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HP:0001943 | Hypoglycemia | "A lower than normal level of blood glucose." [HPO:curators] |
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HP:0002059 | Cerebral atrophy | |
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HP:0002148 | Hypophosphatemia | "A lower than normal level of blood phosphate." [HPO:curators] |
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HP:0002275 | Poor motor coordination | |
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HP:0002317 | Unsteady gait | |
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HP:0002878 | Early respiratory failure | |
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HP:0003128 | Lactic acidemia | "An abnormal buildup of `lactic acid` (CHEBI:28358) in the body, leading to `acidification` (GO:0045851) of the blood." [HPO:probinson] |
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HP:0003202 | Amyotrophy | "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators] |
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HP:0003593 | Early onset | |
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HP:0003812 | Phenotypic variability | |
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HP:0005941 | Intermittent hyperpnea at rest | |
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HP:0008335 | Renal aminoaciduria | |
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HP:0010864 | Mental retardation, severe | "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34." [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:0012120 | Methylmalonic aciduria | "Increased concentration of `methylmalonic acid` (CHEBI:30860) in the urine." [HPO:probinson] |
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