Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
A rare autosomal recessive cerebellar ataxia characterized by early onset of non- or slowly progressive cerebellar signs and symptoms including truncal and gait ataxia, dysarthria, dysmetria, dysdiadochokinesis, tremor, and nystagmus. Delayed psychomotor development and intellectual disability are variable. Additional reported features are spasticity, hypotonia, cataracts, and sensorineural hearing loss, among others. Brain imaging shows cerebellar atrophy. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
5 |
Olivopontocerebellar atrophy-deafness syndrome is characterized by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
4 |
Choroideremia co-occurrent with hypopituitarism |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
4 |
Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
An autosomal dominant cerebellar ataxia type I that is characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
An autosomal dominant cerebellar ataxia type I that is characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
An autosomal dominant cerebellar ataxia type III that is characterized by the late onset of ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
An autosomal dominant cerebellar ataxia type III that is characterized by the late onset of ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
A very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by cerebellar ataxia, tremor and cognitive impairment. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by cerebellar ataxia, tremor and cognitive impairment. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
Wilson's disease |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Wilson's disease |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
Wilson's disease |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
4 |
Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
5 |
Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia, characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Logopenic progressive aphasia (lv-PPA) is a form of primary progressive aphasia, characterized by impaired single-word retrieval and naming and impaired repetition with spared single-word comprehension and object knowledge. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Right temporal atrophy variant frontotemporal dementia (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Altered behavior due to Pick's disease (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
5 |
A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia, characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
A rare degenerative mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Advanced collapse of scapholunate joint due to osteoarthritis (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Alzheimer's disease with delirium (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
arthrose de la hanche concomitante de et due à une dysplasie |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
A very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterised by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
A very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterised by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by cerebellar ataxia and prominent sensory neuropathy. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by cerebellar ataxia and prominent sensory neuropathy. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by cerebellar dysarthria as the initial typical manifestation. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by cerebellar dysarthria as the initial typical manifestation. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
An X-linked syndromic intellectual disability characterized by a few months of normal development, followed by progressive neurodegenerative course with gradual loss of vision, development of spastic tetraplegia, convulsions, microcephaly, failure to thrive, and early death. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
An X-linked syndromic intellectual disability characterized by congenital ataxia and generalized hypotonia, global developmental delay with intellectual disability, myoclonic encephalopathy, progressive neurological deterioration, macular degeneration, and recurrent bronchopulmonary infections. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
A rare autosomal recessive complex spastic paraplegia characterized by upper motor neuron involvement and peripheral neuropathy with an onset between childhood and early adulthood. Patients present with progressive spasticity, hyperreflexia, and distal upper and lower muscle wasting. Reduced cognitive functioning and cerebellar ataxia have also been reported. MR imaging may reveal cerebellar and/or spinal cord atrophy. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
A rare neurologic disease that is characterized by the early onset of cerebellar signs, eye movement abnormalities and pyramidal signs. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
A rare neurologic disease that is characterized by the early onset of cerebellar signs, eye movement abnormalities and pyramidal signs. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia. It is characterized by slowly progressive ataxia, dysarthria and nystagmus. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia. It is characterized by slowly progressive ataxia, dysarthria and nystagmus. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by sensory neuropathy and cerebellar ataxia. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by sensory neuropathy and cerebellar ataxia. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by early onset tremor, dyskinesia, and slowly progressive cerebellar ataxia. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by early onset tremor, dyskinesia, and slowly progressive cerebellar ataxia. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
An autosomal dominant cerebellar ataxia type 1 that is characterized by ataxia and cognitive impairment. Azoospermia is a typical feature in affected males. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
An autosomal dominant cerebellar ataxia type 1 that is characterized by ataxia and cognitive impairment. Azoospermia is a typical feature in affected males. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
An autosomal dominant cerebellar ataxia type I that is characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
6 |
An autosomal dominant cerebellar ataxia type I that is characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
4 |
An autosomal dominant cerebellar ataxia type 1 that is characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor of hands, hyperreflexia and spasmodic torticollis. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
An autosomal dominant cerebellar ataxia type 1 that is characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor of hands, hyperreflexia and spasmodic torticollis. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
An autosomal dominant cerebellar ataxia type 1 that is characterized by a cerebellar syndrome along with altered vertical eye movements. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
An autosomal dominant cerebellar ataxia type 1 that is characterized by a cerebellar syndrome along with altered vertical eye movements. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
An autosomal dominant cerebellar ataxia type III that is characterized by the early onset of cerebellar signs with eye movement abnormalities and a very slow disease progression. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
An autosomal dominant cerebellar ataxia type III that is characterized by the early onset of cerebellar signs with eye movement abnormalities and a very slow disease progression. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
Vogt's limbal girdle, type I (finding) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
A rare syndromic, inherited form of sideroblastic anemia characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
5 |
X-linked spinocerebellar ataxia type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described in one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
X-linked spinocerebellar ataxia type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described in one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
A rare X-linked spinocerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
A rare X-linked spinocerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, neuropathic visceral dysmotility (resulting in neurogenic megacystis and sometimes chronic intestinal pseudo-obstruction syndrome), intracerebral calcifications, and dysmorphic facial features (including broad forehead, downslanted palpebral fissures, strabismus, protruding and low-set ears, and retrognathia). Microcephaly and renal abnormalities have also been reported. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
5 |
Bilateral osteoarthritis of first carpometacarpal joint |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Bilateral osteoarthritis of first carpometacarpal joint |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
Osteoarthritis of joint of left shoulder region (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Osteoarthritis of joint of left wrist (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Osteoarthritis of joint of right ankle and/or foot (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Osteoarthritis of joint of right elbow (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Osteoarthritis of left hip joint (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Osteoarthritis of left knee joint (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Osteoarthritis of joint of left ankle (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Osteoarthritis of joint of left hand (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Osteoarthritis of joint of right hand (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Osteoarthritis of joint of right shoulder region (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Osteoarthritis of joint of right wrist (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Osteoarthritis of right hip joint (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Osteoarthritis of right knee joint (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
5 |
Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Osteoarthritis of right foot (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Osteoarthritis of left foot (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
A rare genetic neurological disorder characterized by infantile to childhood onset of progressive sensory neuropathy in association with spastic paraplegia and mutilating acropathy. Patients present lower limb spasticity and progressive severe sensory loss leading to chronic ulcerations in both upper and lower limbs. Electrophysiological studies are consistent with axonal sensory neuropathy, and nerve biopsy shows axonopathy with loss of myelinated nerve fibers of all diameters as well as of unmyelinated axons. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
6 |
A rare syndromic, inherited form of sideroblastic anemia characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
6 |
Morton's neuroma (morphologic abnormality) |
Is a |
False |
dégénérescence |
Inferred relationship |
Some |
|
Posterior vitreous degeneration of right eye (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Posterior vitreous degeneration of left eye (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Posterior vitreous degeneration of bilateral eyes (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |