Ataxia, and Decreased antibody level in blood

Low match ATAXIA-OCULOMOTOR APRAXIA TYPE 1

Ataxia with oculomotor apraxia type 1 (AOA1) is a rare autosomal recessive cerebellar ataxia (ARCA; see this term), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.

ATAXIA-OCULOMOTOR APRAXIA TYPE 1 Is also known as aoa1|atld

• Ataxia
• Nystagmus
• Neoplasm
• Peripheral neuropathy
• Dysarthria

SOURCES: OMIM ORPHANET MENDELIAN

Low match MOHR-TRANEBJAERG SYNDROME

Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards.

MOHR-TRANEBJAERG SYNDROME Is also known as deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency|deafness-dystonia-optic atrophy syndrome|deafness-dystonia-optic neuronopathy syndrome|dystonia-deafness syndrome|ddon syndrome|opticoacoustic nerve atrophy with de

• Intellectual disability
• Hearing impairment
• Sensorineural hearing impairment
• Spasticity
• Visual impairment

SOURCES: ORPHANET OMIM MESH MENDELIAN

Low match TRANSCOBALAMIN DEFICIENCY

Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia.

TRANSCOBALAMIN DEFICIENCY Is also known as transcobalamin ii deficiency|inherited deficiency of transcobalamin|tc ii deficiency|tcn2 deficiency

• Intellectual disability
• Generalized hypotonia
• Ataxia
• Failure to thrive
• Muscle weakness

SOURCES: ORPHANET OMIM MENDELIAN

Low match CONGENITAL SIDEROBLASTIC ANEMIA-B-CELL IMMUNODEFICIENCY-PERIODIC FEVER-DEVELOPMENTAL DELAY SYNDROME

Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia (see this term), characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful.

CONGENITAL SIDEROBLASTIC ANEMIA-B-CELL IMMUNODEFICIENCY-PERIODIC FEVER-DEVELOPMENTAL DELAY SYNDROME Is also known as sifd syndrome

• Seizures
• Global developmental delay
• Generalized hypotonia
• Hearing impairment
• Ataxia

SOURCES: OMIM ORPHANET MENDELIAN

Low match ATAXIA-PANCYTOPENIA SYNDROME

Ataxia-pancytopenia syndrome is a rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.

ATAXIA-PANCYTOPENIA SYNDROME Is also known as myelocerebellar disorder

• Microcephaly
• Scoliosis
• Ataxia
• Nystagmus
• Anemia

SOURCES: MESH OMIM ORPHANET MENDELIAN

Low match OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS

Okur-Chung neurodevelopmental syndrome is an autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability with poor speech, behavioral abnormalities, cortical malformations in some patients, and variable dysmorphic facial features. Additional features, including microcephaly, gastrointestinal problems, and low levels of immunoglobulins, may be observed in some patients (Okur et al., 2016).

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Microcephaly

SOURCES: OMIM MENDELIAN

Low match HEREDITARY FOLATE MALABSORPTION

Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders.

HEREDITARY FOLATE MALABSORPTION Is also known as congenital folate malabsorption

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Ataxia

SOURCES: MESH ORPHANET OMIM MENDELIAN

Low match RIDDLE SYNDROME

A rare, genetic, primary immunodeficiency disorder characterized by increased radiosensitivity(R), mild immunodeficiency (ID), dysmorphic features (D), and learning difficulties (LE).

RIDDLE SYNDROME Is also known as rnf168 deficiency|radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome|radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties

• Global developmental delay
• Short stature
• Microcephaly
• Ataxia
• Neoplasm

SOURCES: ORPHANET OMIM MESH MENDELIAN

Low match VASCULITIS DUE TO ADA2 DEFICIENCY

Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.

VASCULITIS DUE TO ADA2 DEFICIENCY Is also known as ada2 deficiency|vasculitis due to dada2

• Ataxia
• Pain
• Anemia
• Hypertension
• Peripheral neuropathy

SOURCES: OMIM ORPHANET MENDELIAN

Low match CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1

Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy (GSE), is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002). Long regarded as gastrointestinal disorder of childhood, the disease is now considered to be a chronic systemic autoimmune disease and is more often diagnosed in adults than in children (Monsuur et al., 2005).For a discussion of genetic heterogeneity of celiac disease, see MAPPING.

CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1 Is also known as celiac sprue, susceptibility to, 1|gluten-sensitive enteropathy, susceptibility to, 1

• Seizures
• Short stature
• Ataxia
• Failure to thrive
• Anemia

SOURCES: OMIM MENDELIAN