| 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:0000737 | Irritability | |
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| HP:0000988 | Skin rash | |
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| HP:0001096 | Keratoconjunctivitis | "Inflammation of the cornea and conjunctiva." [HPO:curators] |
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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:0001254 | Lethargy | |
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| HP:0001259 | Coma | |
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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:0001276 | Hypertonia | |
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| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001510 | Growth retardation | |
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| HP:0001596 | Alopecia | "Loss of hair from the head or body." [HPO:curators] |
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| HP:0001824 | Weight loss | |
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| HP:0001873 | Thrombocytopenia | |
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| HP:0001942 | Metabolic acidosis | |
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| HP:0001987 | Hyperammonemia | |
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| HP:0001992 | Organic aciduria | |
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| HP:0002013 | Vomiting | |
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| HP:0002017 | Nausea and vomiting | |
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| HP:0002039 | Anorexia | |
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| HP:0002098 | Respiratory distress | |
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| HP:0002789 | Tachypnea | |
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| HP:0002883 | Hyperventilation | |
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| HP:0007549 | Desquamation of skin soon after birth | |
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| HP:0008872 | Feeding problems in infancy | |
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| HP:0011127 | Perioral eczema | "A type of `eczema` (HP:0000964) that occurs in the lips and perioral area." [HPO:probinson] |
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