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:0000044 | Hypogonadotrophic hypogonadism | "Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH)." [HPO:curators] |
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HP:0000490 | Deep set eyes | |
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HP:0000511 | Vertical supranuclear gaze palsy | |
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HP:0000545 | Myopia | |
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HP:0000617 | Abnormality of ocular smooth pursuit | "An `abnormality of eye movement` (HP:0000496) characterized by impaired smooth-pursuit eye movements." [HPO:probinson] |
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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:0000648 | Optic atrophy | |
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HP:0000668 | Hypodontia | "Hypodontia describes a situation when there are fewer than the normal number of teeth, whereby 6 teeth or fewer teeth are missing (oligodontia refers to the condition of missing more than 6 teeth and the congenital absence of all teeth is called anodontia)." [HPO:curators] |
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HP:0000677 | Oligodontia | "The condition of missing over 6 teeth (Missing up to 6 teeth is referred to a hypodontia)." [HPO:curators] |
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HP:0000684 | Delayed dentition | "Delayed eruption of teeth." [HPO:curators] |
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HP:0000815 | Hypergonadotropic hypogonadism | "Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay." [HPO:curators] |
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HP:0000823 | Delayed puberty | |
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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:0001256 | Mental retardation, mild | "Mild mental retardation is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:curators] |
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HP:0001257 | Spasticity | "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators] |
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HP:0001260 | Dysarthria | "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators] |
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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:0001272 | Cerebellar atrophy | |
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HP:0001310 | Dysmetria | |
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HP:0001321 | Cerebellar hypoplasia | |
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HP:0001332 | Dystonia | "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [HPO:curators] |
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HP:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
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HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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HP:0002079 | Hypoplasia of the corpus callosum | "Underdevelopment of the corpus callosum." [HPO:curators] |
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HP:0002080 | Intention tremor | "An oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient s nose or a physician s finger)." [HPO:curators] |
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HP:0002120 | Cerebral cortical atrophy | |
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HP:0002127 | Upper motor neuron abnormality | |
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HP:0002134 | Abnormality of the basal ganglia | "Abnormality of the basal ganglia, which are a group of nuclei (striatum, pallidum substantia nigra, and the subthalamic nucleus) at the base of the forebrain that are connected to the cerebral cortex, the thalamus, and other areas. The basal ganglia subserve motor functions that are distinct from those of the pyramidal (corticospinal) tract, for which reason neurologic abnormalities caused by lesions to the basal ganglia are often referred to as extrapyramidal." [HPO:curators] |
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HP:0002166 | Decreased vibratory sense in the lower limbs | "A decrease in the ability to perceive vibration in the legs." [HPO:curators] |
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HP:0002174 | Postural tremor | "A type of tremors that is triggered by holding a limb in a fixed position." [HPO:curators] |
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HP:0002307 | Drooling | |
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HP:0002312 | Clumsiness | |
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HP:0002376 | Developmental regression | |
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HP:0002403 | Positive Romberg sign | |
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HP:0002415 | Leukodystrophy | |
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HP:0002464 | Spastic dysarthria | |
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HP:0003429 | Hypomyelination | |
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HP:0003487 | Babinski sign | "Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract." [HPO:curators] |
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HP:0003676 | Progressive disorder | |
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HP:0003812 | Phenotypic variability | |
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HP:0004322 | Decreased body height | "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)." [HPO:curators] |
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HP:0005341 | Abnormal bladder regulation due to autonomic dysfunction | |
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HP:0006858 | Distal sensory loss of proprioception and vibration sense | |
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HP:0009830 | Peripheral neuropathy | "Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course." [HPO:curators] |
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HP:0025460 | High myoinositol in brain by MRS | "An elveated level of myoinositol in the brain identified by magnetic resonance spectroscopy (MRS)." [ORCID:0000-0003-0169-8159, PMID:20951217] |
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HP:0040168 | Focal seizures, afebril | |
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