| 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] |
Show
|
| HP:0000012 | Urinary urgency | |
Show
|
| HP:0000020 | Urinary incontinence | "Loss of the ability to control the urinary bladder leading to involuntary urination." [HPO:sdoelken] |
Show
|
| HP:0000298 | Mask-like facies | |
Show
|
| HP:0000467 | Neck muscle weakness | |
Show
|
| HP:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
Show
|
| HP:0000544 | External ophthalmoplegia | |
Show
|
| HP:0000602 | Ophthalmoplegia | |
Show
|
| HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
Show
|
| HP:0000648 | Optic atrophy | |
Show
|
| HP:0000657 | Oculomotor apraxia | |
Show
|
| HP:0001249 | Mental retardation | |
Show
|
| 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] |
Show
|
| HP:0001258 | Spastic paraplegia | |
Show
|
| 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] |
Show
|
| HP:0001268 | Mental deterioration | |
Show
|
| HP:0001272 | Cerebellar atrophy | |
Show
|
| HP:0001285 | Spastic tetraparesis | "Spastic weakness affecting all four limbs." [HPO:curators] |
Show
|
| HP:0001310 | Dysmetria | |
Show
|
| 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] |
Show
|
| HP:0002061 | Lower limb spasticity | |
Show
|
| HP:0002075 | Dysdiadochokinesis | "An inability to perform rapidly alternating movements, such as rhythmically tapping the fingers on the knee, generally related to a cerebellar lesion." [HPO:curators] |
Show
|
| HP:0002079 | Hypoplasia of the corpus callosum | "Underdevelopment of the corpus callosum." [HPO:curators] |
Show
|
| HP:0002120 | Cerebral cortical atrophy | |
Show
|
| HP:0002180 | Neurodegeneration | |
Show
|
| HP:0002313 | Spastic paraparesis | |
Show
|
| HP:0002355 | Difficulty walking | |
Show
|
| HP:0002359 | Frequent falls | |
Show
|
| HP:0002518 | Periventricular white matter changes | |
Show
|
| HP:0002607 | Bowel incontinence | |
Show
|
| HP:0002808 | Kyphosis | |
Show
|
| 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] |
Show
|
| HP:0003676 | Progressive disorder | |
Show
|
| HP:0005656 | Positional foot deformities | "A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies." [HPO:curators] |
Show
|
| HP:0006879 | Pontocerebellar atrophy | |
Show
|
| HP:0006895 | Lower limb hypertonia | |
Show
|
| HP:0006978 | Dysmyelinating leukodystrophy | |
Show
|
| HP:0007325 | Generalized dystonia | |
Show
|
| HP:0007366 | Atrophy/Degeneration affecting the brainstem | |
Show
|
| HP:0007371 | Atrophy/Degeneration of the corpus callosum | "The presence of atrophy (wasting) of the corpus callosum." [HPO:sdoelken] |
Show
|
| HP:0009027 | Foot dorsiflexor weakness | |
Show
|
| HP:0010677 | Enuresis nocturna | "`Enuresis` (HP:0000805) occuring during sleeping hours." [HPO:sdoelken] |
Show
|
| HP:0011096 | Peripheral demyelination | "A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system." [HPO:probinson] |
Show
|
| HP:0011448 | Ankle clonus | "Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward." [HPO:probinson] |
Show
|
| HP:0012677 | Iron accumulation in globus pallidus | "An abnormal build up of iron (Fe) in the globus pallidus." [HPO:probinson] |
Show
|
| HP:0100515 | Pollakisuria | "Increased frequency of urination." [HPO:probinson] |
Show
|
