Gene: MTFMT
Cytoband position: 15q22.31
OMIM: 611766
RVIS score: 0.71
RVIS percentage: 85.53
| Phenotype name | HPO ID | Alternative HPO ID | Phenotype description |
|---|---|---|---|
| Onset | HP:0003674 | HP:0003588,HP:0003590,HP:0003597,HP:0003602,HP:0003603,HP:0003618,HP:0003626,HP:0003628,HP:0003630,HP:0003663,HP:0003664,HP:0003668,HP:0011007 | The age group in which disease manifestations appear. |
| Increased circulating lactate concentration | HP:0002151 | HP:0003638 | Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35). |
| Abnormality of the mitochondrion | HP:0012103 | None | An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration. |
| Abnormality of limbs | HP:0040064 | None | None |
| Abnormal fundus morphology | HP:0001098 | None | Any structural abnormality of the fundus of the eye. |
| Neurogenic bladder | HP:0000011 | None | A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention. |
| Abnormality of movement | HP:0100022 | HP:0001294 | An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements. |
| Cerebral palsy | HP:0100021 | None | Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behavior, by epilepsy, and by secondary musculoskeletal problems. |
| Abnormality of limb bone | HP:0040068 | None | None |
| Abnormality of the digestive system | HP:0025031 | None | None |
| Abnormal appendicular skeleton morphology | HP:0011844 | None | An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles. |
| Upper motor neuron dysfunction | HP:0002493 | None | A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs. |
| Abnormal systemic blood pressure | HP:0030972 | None | A chronic deviation from normal pressure in the systemic arterial system. |
| Delayed speech and language development | HP:0000750 | HP:0002116,HP:0002117,HP:0002336,HP:0002399,HP:0002498,HP:0006936,HP:0007004,HP:0007127,HP:0007170,HP:0007172 | A degree of language development that is significantly below the norm for a child of a specified age. |
| Global developmental delay | HP:0001263 | HP:0000754,HP:0001255,HP:0001277,HP:0001292,HP:0002433,HP:0002473,HP:0002532,HP:0006793,HP:0006867,HP:0006885,HP:0006935,HP:0007005,HP:0007094,HP:0007106,HP:0007174,HP:0007224,HP:0007228,HP:0007342,HP:0025356 | A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. |
| Gait disturbance | HP:0001288 | HP:0006953 | The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease. |
| Cognitive impairment | HP:0100543 | HP:0002128,HP:0002129,HP:0002302,HP:0002337,HP:0002441,HP:0006972,HP:0006998,HP:0007211 | Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. |
| Abnormality of cardiovascular system electrophysiology | HP:0030956 | None | An anomaly of the electrical conduction physiology of the heart. |
| Abnormality of the nervous system | HP:0000707 | HP:0001333,HP:0006987 | An abnormality of the nervous system. |
| Spastic tetraplegia | HP:0002510 | HP:0001280,HP:0006983 | Spastic paralysis affecting all four limbs. |
| Abnormal muscle tone | HP:0003808 | None | None |
| Abnormal dermatoglyphics | HP:0007477 | HP:0007422 | An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles. |
| Abnormality of the abdominal wall | HP:0004298 | HP:0001462 | The presence of any abnormality affecting the abdominal wall. |
| Seizure | HP:0001250 | HP:0001275,HP:0001303,HP:0002125,HP:0002182,HP:0002279,HP:0002306,HP:0002348,HP:0002391,HP:0002417,HP:0002430,HP:0002431,HP:0002432,HP:0002434,HP:0002437,HP:0002466,HP:0002479,HP:0002794,HP:0006997,HP:0010520 | A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. |
| Single transverse palmar crease | HP:0000954 | HP:0006214 | The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. |
| Abnormality of the skin | HP:0000951 | HP:0001478,HP:0001479,HP:0005591,HP:0006736,HP:0007415,HP:0007580 | An abnormality of the skin. |
| Abnormal skull morphology | HP:0000929 | None | An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone. |
| Abnormality of the skeletal system | HP:0000924 | None | An abnormality of the skeletal system. |
| Mental deterioration | HP:0001268 | HP:0002303,HP:0006822,HP:0007155,HP:0007253,HP:0007264,HP:0007298 | Loss of previously present mental abilities, generally in adults. |
| Intellectual disability | HP:0001249 | HP:0000730,HP:0001267,HP:0001286,HP:0002122,HP:0002192,HP:0002316,HP:0002382,HP:0002386,HP:0002402,HP:0002458,HP:0002482,HP:0002499,HP:0002543,HP:0003767,HP:0006833,HP:0006877,HP:0007154,HP:0007176,HP:0007180 | Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70. |
| Abnormality of eye movement | HP:0000496 | HP:0006860 | An abnormality in voluntary or involuntary eye movements or their control. |
| Clinical modifier | HP:0012823 | HP:0000004 | This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects. |
| Abnormality of the upper limb | HP:0002817 | HP:0003838 | An abnormality of the arm. |
| Aplasia/hypoplasia of the extremities | HP:0009815 | HP:0002969,HP:0006497 | Absence (due to failure to form) or underdevelopment of the extremities. |
| Hypertension | HP:0000822 | HP:0004949,HP:0005126 | The presence of chronic increased pressure in the systemic arterial system. |
| Sleep terror | HP:0030765 | None | Episodes of intense fear, screaming, and flailing occur even though the affected individuals are still asleep. |
| Abnormal optic disc morphology | HP:0012795 | None | A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination. |
| Neurodevelopmental abnormality | HP:0012759 | None | A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. |
| Neurodevelopmental delay | HP:0012758 | None | Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems. |
| Abnormality of the musculature | HP:0003011 | HP:0003197,HP:0003708,HP:0040290 | Abnormality originating in one or more muscles, i.e., of the set of muscles of body. |
| Ventricular preexcitation | HP:0004309 | HP:0006676 | An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway. |
| Abnormal cardiovascular system morphology | HP:0030680 | HP:0001632,HP:0002564,HP:0002565 | Any structural anomaly of the heart and blood vessels. |
| Infantile onset | HP:0003593 | HP:0003576,HP:0003579,HP:0003591,HP:0003594,HP:0003599,HP:0003600,HP:0003629,HP:0003631,HP:0003667,HP:0003672,HP:0010573 | Onset of signs or symptoms of disease between 28 days to one year of life. |
| Abnormal nervous system physiology | HP:0012638 | None | A functional anomaly of the nervous system. |
| Abnormal nervous system morphology | HP:0012639 | None | A structural anomaly of the nervous system. |
| Optic atrophy | HP:0000648 | HP:0007751,HP:0007855 | Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. |
| Nystagmus | HP:0000639 | None | Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. |
| Supranuclear gaze palsy | HP:0000605 | None | A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal. |
| Respiratory insufficiency | HP:0002093 | HP:0004893,HP:0005937,HP:0006542 | None |
| Abnormal optic nerve morphology | HP:0000587 | None | Abnormality of the optic nerve. |
| Abnormal involuntary eye movements | HP:0012547 | None | Anomalous movements of the eyes that occur without the subject wanting them to happen. |
| Visual impairment | HP:0000505 | HP:0000516,HP:0000566,HP:0007758,HP:0007860,HP:0007983 | Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. |
| Abnormal conjugate eye movement | HP:0000549 | None | Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object. |
| Abnormality of connective tissue | HP:0003549 | None | Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). |
| Optic disc pallor | HP:0000543 | HP:0001148,HP:0001484 | A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. |
| Short stature | HP:0004322 | HP:0001509,HP:0003501,HP:0003507,HP:0003512,HP:0003518,HP:0003519,HP:0008871,HP:0008882,HP:0008888,HP:0008913 | A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). |
| Vertical supranuclear gaze palsy | HP:0000511 | None | A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal. |
| Abnormality of vision | HP:0000504 | None | Abnormality of eyesight (visual perception). |
| Aplasia/hypoplasia involving bones of the upper limbs | HP:0006496 | None | Absence (due to failure to form) or underdevelopment of the bones of the upper limbs. |
| Abnormal eye morphology | HP:0012372 | HP:0000489,HP:0012374 | A structural anomaly of the globe of the eye, or bulbus oculi. |
| Abnormal pyramidal sign | HP:0007256 | HP:0003488,HP:0007161,HP:0007225,HP:0007275,HP:0007324,HP:0007347 | Functional neurological abnormalities related to dysfunction of the pyramidal tract. |
| Strabismus | HP:0000486 | HP:0000487 | A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. |
| Abnormal brain morphology | HP:0012443 | None | A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. |
| Abnormality of the eye | HP:0000478 | None | Any abnormality of the eye, including location, spacing, and intraocular abnormalities. |
| Abnormal homeostasis | HP:0012337 | None | An anomaly in the processes involved in the maintenance of an internal equilibrium. |
| Abnormal eye physiology | HP:0012373 | None | A functional anomaly of the eye. |
| Abnormality of mitochondrial metabolism | HP:0003287 | None | A functional anomaly of mitochondria. |
| Microcephaly | HP:0000252 | HP:0001366,HP:0005485,HP:0005489,HP:0005497 | Head circumference below 2 standard deviations below the mean for age and gender. |
| Abnormality of skull size | HP:0000240 | None | Any abnormality of the size of the skull. |
| Abnormality of the head | HP:0000234 | None | An abnormality of the head. |
| Abnormality of the cardiovascular system | HP:0001626 | HP:0003116 | Any abnormality of the cardiovascular system. |
| Abnormality of the musculoskeletal system | HP:0033127 | None | An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body. |
| Abnormality of head or neck | HP:0000152 | None | An abnormality of head and neck. |
| Abnormal CSF metabolite concentration | HP:0025454 | HP:0032207 | Any deviation from the normal range of concentration of a metabolite in the cerebrospinal fluid. |
| Abnormal axial skeleton morphology | HP:0009121 | None | An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum. |
| Aplasia/hypoplasia involving the skeleton | HP:0009115 | None | Absence (due to failure to form) or underdevelopment of one or more components of the skeleton. |
| Abnormal EKG | HP:0003115 | None | Abnormal rhythm of the heart. |
| Abnormality of the genitourinary system | HP:0000119 | HP:0008658,HP:0008688,HP:0008704,HP:0008713 | The presence of any abnormality of the genitourinary system. |
| Phenotypic abnormality | HP:0000118 | None | A phenotypic abnormality. |
| Abnormal heart morphology | HP:0001627 | HP:3000001 | Any structural anomaly of the heart. |
| Abnormal CSF lactate concentration | HP:0030085 | None | Abnormal concentration of lactate in the cerebrospinal fluid. |
| Abnormal hand morphology | HP:0005922 | HP:0003098 | Any structural anomaly of the hand. |
| Increased body weight | HP:0004324 | HP:0045083 | Abnormally increased body weight. |
| Aplasia/hypoplasia involving bones of the extremities | HP:0045060 | None | None |
| Abnormality of the urinary system | HP:0000079 | None | An abnormality of the urinary system. |
| Inguinal hernia | HP:0000023 | None | Protrusion of the contents of the abdominal cavity through the inguinal canal. |
| Abnormality of the bladder | HP:0000014 | None | An abnormality of the urinary bladder. |
| Functional abnormality of the bladder | HP:0000009 | HP:0004424,HP:0008731 | Dysfunction of the urinary bladder. |
| Autosomal recessive inheritance | HP:0000007 | HP:0001416,HP:0001526,HP:0031362 | 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). |
| Mode of inheritance | HP:0000005 | HP:0001425,HP:0001453,HP:0001461,HP:0010985 | The pattern in which a particular genetic trait or disorder is passed from one generation to the next. |
| Abnormality of body height | HP:0000002 | None | Deviation from the norm of height with respect to that which is expected according to age and gender norms. |
| All | HP:0000001 | None | None |
| Abnormal palm morphology | HP:0100871 | None | An abnormality of the palm, that is, of the front of the hand. |
| Hernia | HP:0100790 | None | None |
| Reduced visual acuity | HP:0007663 | HP:0001091,HP:0007693,HP:0007739,HP:0007969,HP:0008008 | None |
| Abnormal cerebral subcortex morphology | HP:0010993 | None | An abnormality of the cerebral subcortex. |
| Abnormality of the lower urinary tract | HP:0010936 | None | An abnormality of the lower urinary tract. |
| Acidosis | HP:0001941 | HP:0001940 | Abnormal acid accumulation or depletion of base. |
| Abnormality of metabolism/homeostasis | HP:0001939 | HP:0002146,HP:0004355,HP:0004367 | None |
| Abdominal wall defect | HP:0010866 | None | An incomplete closure of the abdominal wall. |
| Abnormal forebrain morphology | HP:0100547 | None | An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle. |
| Clinical course | HP:0031797 | None | The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual. |
| Abnormality of body weight | HP:0004323 | HP:0010718 | An abnormal increase or decrease of weight or an abnormal distribution of mass in the body. |
| Abnormal cardiac septum morphology | HP:0001671 | HP:0001690,HP:0004760 | An anomaly of the intra-atrial or intraventricular septum. |
| Arrhythmia | HP:0011675 | HP:0001656,HP:0001661,HP:0001665,HP:0001666,HP:0001675,HP:0001687,HP:0001721,HP:0004351,HP:0005158 | 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. |
| Abnormal cardiac ventricle morphology | HP:0001713 | None | An abnormality of a cardiac ventricle. |
| Wolff-Parkinson-White syndrome | HP:0001716 | None | A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway. |
| Ventricular septal defect | HP:0001629 | HP:0001652 | A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. |
| Abnormal ventricular septum morphology | HP:0010438 | HP:0001628 | A structural abnormality of the interventricular septum. |
| Abnormal PR interval | HP:0031593 | None | An anomaly of the PR interval, which is the portion of the ECG from the onset of the P wave to the beginning of the QRS complex. A normal PR interval in adults is 0.12-0.2 seconds. |
| Abnormality of the integument | HP:0001574 | None | An abnormality of the integument, which consists of the skin and the superficial fascia. |
| Growth delay | HP:0001510 | HP:0001434,HP:0001512,HP:0001514,HP:0001517,HP:0001532,HP:0008847,HP:0008870,HP:0008886,HP:0008893,HP:0008926 | A deficiency or slowing down of growth pre- and postnatally. |
| Obesity | HP:0001513 | None | Accumulation of substantial excess body fat. |
| Growth abnormality | HP:0001507 | HP:0008904 | None |
| Abnormal communication | HP:0034434 | None | Presence of any form of communication (e.g., verbal or non-verbal) that does not align with cultural expectations or developmental level. |
| Abnormal cellular physiology | HP:0011017 | HP:0025462 | An abnormality in a cellular process. |
| Abnormality of the palmar creases | HP:0010490 | None | An abnormality of the creases of the skin of palm of hand. |
| Abnormality of acid-base homeostasis | HP:0004360 | None | An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH. |
| Abnormal posterior eye segment morphology | HP:0004329 | None | None |
| Aplasia/Hypoplasia of the cerebrum | HP:0007364 | None | None |
| Appendicular spasticity | HP:0034353 | None | A type of spasticity that affects one or more limbs (arms or legs). |
| Mendelian inheritance | HP:0034345 | None | A mode of inheritance of diseases whose pathophysiology can be traced back to deleterious variants in a single gene. The inheritance patterns of these single-gene (monogenic) diseases are often referred to as Mendelian in honor of Gregor Mendel. |
| Abnormal cellular phenotype | HP:0025354 | None | An anomaly of cellular morphology or physiology. |
| Focal-onset seizure | HP:0007359 | HP:0002358,HP:0040168 | A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures. |
| Bilateral tonic-clonic seizure with focal onset | HP:0007334 | HP:0002602 | A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase. |
| Tremor | HP:0001337 | HP:0001295,HP:0001309 | An unintentional, oscillating to-and-fro muscle movement about a joint axis. |
| Aplasia/Hypoplasia involving the central nervous system | HP:0002977 | HP:0001323 | Absence or underdevelopment of tissue in the central nervous system. |
| Morphological central nervous system abnormality | HP:0002011 | HP:0002405,HP:0002413,HP:0002481,HP:0007319 | A structural abnormality of the central nervous system. |
| Ventricular arrhythmia | HP:0004308 | None | None |
| Involuntary movements | HP:0004305 | HP:0007120 | Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face. |
| Bilateral tonic-clonic seizure | HP:0002069 | HP:0001306,HP:0002407,HP:0007252 | A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase. |
| Abnormal skin morphology of the palm | HP:0040211 | None | An abnormality of the skin of the palm, that is, the skin of the front of the hand. |
| Hernia of the abdominal wall | HP:0004299 | None | The presence of a hernia in the abdominal wall. |
| NREM parasomnia | HP:0025235 | None | A parasomnia that occurs during non-rapid eye movement (NREM) sleep. |
| Parasomnia | HP:0025234 | None | An undesirable physical event or experience that occurs during the process of falling asleep, while asleep, or when waking up from sleep. |
| Hypertonia | HP:0001276 | HP:0002388 | A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. |
| Spasticity | HP:0001257 | None | A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. |
| Ataxia | HP:0001251 | HP:0001253,HP:0002513,HP:0007050,HP:0007157 | Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). |
| Hypotonia | HP:0001252 | HP:0011398 | Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. |
| Decreased head circumference | HP:0040195 | None | An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean. |
| Abnormality of the hand | HP:0001155 | HP:0005858 | An abnormality affecting one or both hands. |
| Abnormal palmar dermatoglyphics | HP:0001018 | None | An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand. |
| Pediatric onset | HP:0410280 | None | Onset of disease manifestations before adulthood, defined here as before the age of 16 years, but excluding neonatal or congenital onset. |
| Decreased activity of mitochondrial complex I | HP:0011923 | None | A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria. |
| Abnormal activity of mitochondrial respiratory chain | HP:0011922 | None | An increased or decreased activity of the mitochondrial respiratory chain. |
| Decreased activity of mitochondrial respiratory chain | HP:0008972 | None | Decreased activity of the mitochondrial respiratory chain. |
| Abnormal respiratory system physiology | HP:0002795 | HP:0005952 | None |
| Respiratory arrest | HP:0005943 | None | None |
| Aplasia/hypoplasia involving bones of the hand | HP:0005927 | None | Absence (due to failure to form) or underdevelopment of the bones of the hand. |
| Abnormal cerebrospinal fluid morphology | HP:0002921 | None | An abnormality of the cerebrospinal fluid (CSF). |
| Abnormal skeletal morphology | HP:0011842 | None | An abnormality of the form, structure, or size of the skeletal system. |
| Abnormal muscle physiology | HP:0011804 | None | A functional abnormality of a skeletal muscle. |
| Abnormal limb bone morphology | HP:0002813 | None | Any abnormality of bones of the arms or legs. |
| Abnormal cerebral white matter morphology | HP:0002500 | HP:0200100 | An abnormality of the cerebral white matter. |
| Small hand | HP:0200055 | None | Disproportionately small hand. |
| Increased CSF lactate | HP:0002490 | None | Increased concentration of lactate in the cerebrospinal fluid. |
| Abnormality of coordination | HP:0011443 | None | None |
| Abnormality of mental function | HP:0011446 | None | Cognitive, psychiatric, or memory anomaly. |
| Abnormal central motor function | HP:0011442 | None | An anomaly of the control or production of movement in the central nervous system. |
| Language impairment | HP:0002463 | None | Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure, or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations. |
| Regional abnormality of skin | HP:0011356 | None | An abnormality of the skin that is restricted to a particular body region. |
| Sleep abnormality | HP:0002360 | None | An abnormal pattern in the quality, quantity, or characteristics of sleep. |
| Decreased activity of mitochondrial complex IV | HP:0008347 | None | A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria. |
| Progressive neurologic deterioration | HP:0002344 | None | None |
| Unsteady gait | HP:0002317 | None | None |
| Incoordination | HP:0002311 | HP:0002276 | None |
| Increased blood pressure | HP:0032263 | None | Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension. |
| Shortened PR interval | HP:0005165 | None | Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long. |
| Ventricular septal hypertrophy | HP:0005144 | None | The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle. |
| Abnormality of speech or vocalization | HP:0002167 | None | Abnormalities in the sound of a person's speech or vocalization are not necessarily associated with a known physical cause or due to stuttering or stammering. |
| Abnormal skin morphology | HP:0011121 | None | Any morphological abnormality of the skin. |
| Abnormality of the respiratory system | HP:0002086 | None | An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. |
| Abnormal cerebral morphology | HP:0002060 | None | Any structural abnormality of the telencephalon, which is also known as the cerebrum. |
| Abnormal cardiovascular system physiology | HP:0011025 | None | Abnormal functionality of the cardiovascular system. |