Ataxia, and Hypertension

Low match PSYCHOMOTOR REGRESSION-OCULOMOTOR APRAXIA-MOVEMENT DISORDER-NEPHROPATHY SYNDROME

PSYCHOMOTOR REGRESSION-OCULOMOTOR APRAXIA-MOVEMENT DISORDER-NEPHROPATHY SYNDROME Is also known as cerebrorenal syndrome, perez type

• Intellectual disability
• Generalized hypotonia
• Ataxia
• Strabismus
• Muscle weakness

SOURCES: OMIM ORPHANET MENDELIAN

Low match CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2; CRMCC2

CRMCC2 is an autosomal recessive multisystem disorder characterized by premature aging, pancytopenia, hypocellular bone marrow, osteopenia, liver fibrosis, and vascular telangiectasia resulting in gastrointestinal bleeding. Brain imaging shows intracranial calcifications and leukodystrophy, which may result in neurologic signs including spasticity, ataxia, or dystonia. Patients may also have retinal telangiectasia (summary by Simon et al., 2016).For a discussion of genetic heterogeneity of CRMCC, see CRMCC1 (OMIM ).

• Ataxia
• Growth delay
• Spasticity
• Hypertension
• Intrauterine growth retardation

SOURCES: OMIM MENDELIAN

Low match MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS

Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.

MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS Is also known as mtdna-related cardiomyopathy and hearing loss|trna-lys-related cardiomyopathy-hearing loss syndrome|maternally-inherited cardiomyopathy and deafness

• Ataxia
• Sensorineural hearing impairment
• Muscle weakness
• Hypertension
• Peripheral neuropathy

SOURCES: ORPHANET MENDELIAN

Low match NEUROBLASTOMA

Neuroblastoma is a malignant tumor of neural crest cells, the cells that give rise to the sympathetic nervous system, which is observed in children.

• Ataxia
• Neoplasm
• Failure to thrive
• Pain
• Anemia

SOURCES: ORPHANET OMIM MENDELIAN

Low match AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA

Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.

AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA Is also known as hpd with marked diurnal fluctuation|gtpch1-deficient dopa-responsive dystonia|gtpch1-deficient drd|dyt5a|hereditary progressive dystonia with marked diurnal fluctuation|autosomal dominant segawa syndrome

• Intellectual disability
• Hearing impairment
• Scoliosis
• Ataxia
• Hypertension

SOURCES: ORPHANET MENDELIAN

Low match ARGININOSUCCINIC ACIDURIA

Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction.

ARGININOSUCCINIC ACIDURIA Is also known as argininosuccinic acid lyase deficiency|asa deficiency|argininosuccinase deficiency|argininosuccinatelyase deficiency|argininosuccinate lyase deficiency|asl deficiency

• Intellectual disability
• Seizures
• Global developmental delay
• Short stature
• Ataxia

SOURCES: ORPHANET MESH OMIM MENDELIAN

Low match FATAL FAMILIAL INSOMNIA

Fatal familial insomnia (FFI) is a very rare form of prion disease (see this term) characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances.

FATAL FAMILIAL INSOMNIA Is also known as insomnia, fatal familial

• Seizures
• Ataxia
• Nystagmus
• Spasticity
• Hypertension

SOURCES: OMIM ORPHANET MESH MENDELIAN

Low match EAST SYNDROME

SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia).

EAST SYNDROME Is also known as sesame syndrome|epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome|seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome|east syndrome|epilepsy, ataxia, sensorineural deafness, and tubulopathy

• Intellectual disability
• Seizures
• Global developmental delay
• Short stature
• Generalized hypotonia

SOURCES: MESH ORPHANET OMIM MENDELIAN

Low match SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY

Severe neurodegenerative syndrome with lipodystrophy is a rare, genetic, neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tretraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertorphy. Hyperactivity, tremor and development of seizures may also be associated.

SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY Is also known as severe neurodegenerative syndrome due to bscl2 deficiency

• Seizures
• Global developmental delay
• Ataxia
• Spasticity
• Cognitive impairment

SOURCES: OMIM ORPHANET MENDELIAN

Low match CARASIL

CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.

CARASIL Is also known as cerebrovascular disease with thin skin, alopecia, and disc disease|subcortical vascular encephalopathy, progressive|maeda syndrome|cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

• Ataxia
• Nystagmus
• Pain
• Spasticity
• Cognitive impairment

SOURCES: OMIM ORPHANET MESH MENDELIAN