| 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:0000158 | Macroglossia | "Increased length and width of the tongue." [pmid:19125428] |
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| HP:0000194 | Open mouth | |
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| HP:0000602 | Ophthalmoplegia | |
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| HP:0000649 | Abnormality of vision evoked potentials | |
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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: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:0001270 | Motor retardation | |
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| HP:0001284 | Areflexia | |
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| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001302 | Pachygyria | "A congenital abnormality of the cerebral hemisphere chacterized by unusually thick gyrations (convolutions) of the cerebral cortex." [HPO:curators] |
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| HP:0001319 | Neonatal hypotonia | "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period." [HPO:curators] |
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| HP:0001371 | Contractures | |
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| HP:0001612 | Weak cry | |
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| HP:0001638 | Cardiomyopathy | |
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| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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| HP:0002020 | Gastroesophageal reflux | |
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| HP:0002058 | Myopathic facies | "A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness." [HPO:curators] |
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| HP:0002092 | Pulmonary hypertension | |
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| HP:0002121 | Absence seizures | "Recurrent absence seizures are `generalized seizures` (HP:0002197) that are characterized by a sudden cessation of motor activity and by a blank facial expression with flickering of the eyelids. There is no convulsive muscular activity or loss of postural control." [HPO:probinson] |
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| HP:0002181 | Cerebral edema | "Abnormal accumulation of fluid in the brain." [HPO:curators] |
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| HP:0002375 | Hypokinesia | |
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| HP:0002446 | Astrocytosis | |
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| HP:0002536 | Abnormal cortical gyration | "An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain." [HPO:curators] |
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| HP:0002540 | Inability to walk | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002747 | Respiratory insufficiency due to muscle weakness | |
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| HP:0002751 | Kyphoscoliosis | |
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| HP:0002783 | Recurrent lower respiratory tract infections | |
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| HP:0002791 | Hypoventilation | |
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| HP:0002835 | Aspiration | |
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| HP:0002878 | Early respiratory failure | |
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| HP:0003236 | Elevated serum creatine phosphokinase | |
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| HP:0003307 | Hyperlordosis | |
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| HP:0003560 | Muscular dystrophy | "The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the apoptosis of muscle cells." [HPO:curators] |
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| HP:0003577 | Onset at birth | |
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| HP:0003741 | Congenital muscular dystrophy | |
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| HP:0004325 | Decreased body weight | |
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| HP:0004878 | Respiratory failure due to intercostal muscle and diaphragm involvement | |
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| HP:0005216 | Chewing difficulties | |
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| HP:0006879 | Pontocerebellar atrophy | |
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| HP:0007103 | Hypodensity of cerebral white matter on MRI | |
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| HP:0007141 | Sensorimotor neuropathy | |
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| HP:0007359 | Partial seizures | "Recurrent partial `seizures` (HP:0001250). In a partial seizure, the electrical disturbance is limited to one part or side of the brain. That is, partial epilepsies are epileptic disorders in which clinical or laboratory findings disclose a localized origin of seizures." [HPO:curators] |
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| HP:0008872 | Feeding problems in infancy | |
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| HP:0009025 | Increased connective tissue | "The presence of an abnormally increased amount of connective tissue." [HPO:curators] |
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| HP:0010628 | Facial muscle weakness | "A weakness of any or all of the muscles of the face of any etiology." [HPO:curators] |
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| HP:0010754 | Abnormality of the temperomandibular joint | |
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| HP:0010808 | Protruding tongue | "Tongue extending beyond the alveolar ridges or teeth at rest." [pmid:19125428] |
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| HP:0011675 | Arrhythmia | "Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both." [DDD:dbrown, pmid:19063792] |
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| HP:0012664 | Reduced ejection fraction | "A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle." [HPO:probinson] |
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| HP:0012747 | Abnormal brainstem MRI signal intensity | "A deviation from normal signal on magnetic resonance imaging (MIR) of the brainstem." [UToronto:htrang] |
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| HP:0030234 | Highly elevated creatine phosphokinase | "An increased CPK level between 4X and 50X above the upper normal level." [Neuromics:vstraub] |
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| HP:0100295 | Muscle fiber atrophy | |
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| HP:0100543 | Cognitive impairment | "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken] |
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| HP:0100614 | Myositis | "A general term for inflammation of the muscles without respect to the underlying cause." [HPO:sdoelken] |
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| HP:0100750 | Atelectasis | |
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