| 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:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
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| HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
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| HP:0000737 | Irritability | |
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| HP:0000961 | Cyanosis | |
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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: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:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001298 | Encephalopathy | |
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| HP:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
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| HP:0001399 | Hepatic failure | |
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| HP:0001638 | Cardiomyopathy | |
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| HP:0001662 | Bradycardia | |
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| HP:0001678 | Atrioventricular block | |
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| HP:0001714 | Ventricular hypertrophy | |
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| HP:0001943 | Hypoglycemia | "A lower than normal level of blood glucose." [HPO:curators] |
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| HP:0001985 | Hypoketotic hypoglycemia | |
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| HP:0001987 | Hyperammonemia | |
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| HP:0002045 | Hypothermia | |
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| HP:0002093 | Respiratory insufficiency | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002615 | Hypotension | |
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| HP:0002882 | Sudden episodic apnea, severe, may cause death | "Recurrent bouts of sudden, severe apnea that may be life-threatening." [HPO:curators] |
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| HP:0002910 | Elevated transaminases | "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:curators] |
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| HP:0003162 | Fasting hypoglycemia | |
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| HP:0003201 | Rhabdomyolysis | |
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| HP:0003215 | Dicarboxylic aciduria | |
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| HP:0003234 | Decreased plasma carnitine | |
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| HP:0003236 | Elevated serum creatine phosphokinase | |
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| HP:0004756 | Ventricular tachycardia | |
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| HP:0006543 | Cardiorespiratory arrest | |
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| HP:0006682 | Ventricular extrasystoles | "Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node." [HPO:curators] |
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| HP:0008331 | Elevated creatine kinase after exercise | |
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| HP:0040290 | Abnormality of skeletal muscles | |
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| HP:0045045 | Elevated plasma acylcarnitine levels | |
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| HP:0100520 | Oliguria | "Low output of urine, clinically classified as an output below 300-500ml/day." [HPO:sdoelken] |
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| HP:0100602 | Preecplampsia | "Pregnancy-induced hypertension in association with significant amounts of protein in the urine." [HPO:sdoelken] |
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