| 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:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
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| HP:0000509 | Conjunctivitis | "Inflammation of the conjunctiva." [HPO:curators] |
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| HP:0000545 | Myopia | |
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| HP:0000572 | Visual loss | |
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| HP:0000648 | Optic atrophy | |
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| HP:0000988 | Skin rash | |
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| HP:0001051 | Seborrheic dermatitis | "Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk." [HPO:curators] |
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| HP:0001096 | Keratoconjunctivitis | "Inflammation of the cornea and conjunctiva." [HPO:curators] |
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| HP:0001123 | Visual field defects | |
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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:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
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| HP:0001510 | Growth retardation | |
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| HP:0001581 | Recurrent skin infections | "Infections of the skin that happen multiple times." [HPO:curators] |
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| HP:0001596 | Alopecia | "Loss of hair from the head or body." [HPO:curators] |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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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:0002014 | Diarrhea | |
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| HP:0002104 | Apnea | "Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event." [HPO:curators] |
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| HP:0002123 | Myoclonic seizures | "Myoclonic seizures are sudden, brief losses of consciousness and postural tone not associated with tonic muscular contractions. Myoclonic seizures may involve one body part or the entire body. In the latter case, the myoclonic seizure is accompanied by a violent fall but not by loss of consciousness." [HPO:curators] |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002506 | Diffuse cerebral atrophy | |
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| HP:0002789 | Tachypnea | |
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| HP:0002841 | Fungal infections, recurrent | |
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| HP:0002883 | Hyperventilation | |
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| HP:0005979 | Metabolic ketoacidosis | |
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| HP:0006511 | Laryngeal stridor | |
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| HP:0007549 | Desquamation of skin soon after birth | |
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| HP:0007730 | Reduced iris pigmentation | |
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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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| HP:0100275 | Diffuse cerebellar atrophy | "Diffuse unlocalised atrophy affecting the cerebellum." [HPO:sdoelken] |
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| HP:0410145 | Decreased biotinidase activity | "A decrease in biotinidase activity, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation." [PMID:29359854] |
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