Ataxia, and Intellectual disability, mild

Medium match CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3; CAMRQ3

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (OMIM ).

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3; CAMRQ3 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3

• Intellectual disability
• Ataxia
• Strabismus
• Dysarthria
• Tremor

SOURCES: OMIM MESH MENDELIAN

Medium match BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6; CBAS6

• Intellectual disability
• Global developmental delay
• Ataxia
• Delayed speech and language development
• Hepatomegaly

SOURCES: OMIM MENDELIAN

Medium match OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10

• Intellectual disability
• Seizures
• Ataxia
• Nystagmus
• Peripheral neuropathy

SOURCES: OMIM MENDELIAN

Medium match TYROSINEMIA TYPE 3

Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate.

TYROSINEMIA TYPE 3 Is also known as tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency|4-hydroxyphenylpyruvic acid oxidase deficiency|tyrosinemia type iii|4-hydroxyphenylpyruvate dioxygenase deficiency|tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency|tyrosine

• Intellectual disability
• Seizures
• Global developmental delay
• Ataxia
• Cognitive impairment

SOURCES: OMIM ORPHANET MENDELIAN

Medium match FAMILIAL INFANTILE MYOCLONIC EPILEPSY

FAMILIAL INFANTILE MYOCLONIC EPILEPSY Is also known as fime|eim|familial infantile myoclonus epilepsy

• Intellectual disability
• Seizures
• Global developmental delay
• Ataxia
• Dysarthria

SOURCES: OMIM ORPHANET MENDELIAN

Medium match AUTOSOMAL RECESSIVE ATAXIA DUE TO PEX10 DEFICIENCY

AUTOSOMAL RECESSIVE ATAXIA DUE TO PEX10 DEFICIENCY Is also known as mild peroxismal disorder due to pex10 deficiency

• Global developmental delay
• Hyperreflexia
• Dysarthria
• Intellectual disability, mild
• Pes cavus

SOURCES: ORPHANET MENDELIAN

Medium match 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA

2-aminoadipic 2-oxoadipic aciduria is a rare disorder of lysine and hydroxylysine metabolism characterized by variable clinical presentation including hypotonia, developmental delay, mild to severe intellectual disability, ataxia, epilepsy and behavioral disorders, most commonly attention deficit hyperactivity disorder. Frequently, individuals are completely without clinical phenotype.

2-AMINOADIPIC 2-OXOADIPIC ACIDURIA Is also known as alpha-aminoadipic aciduria

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

SOURCES: OMIM ORPHANET MENDELIAN

Medium match MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions.

MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS Is also known as mlc|megalencephaly-cystic leukodystrophy syndrome|van der knaap disease|vl|vacuolating megalencephalic leukoencephalopathy with subcortical cysts|van der knaap syndrome|lvm|megalencephalic leukodystrophy|leukoencephalopathy with swelling and cysts

• Seizures
• Ataxia
• Spasticity
• Delayed speech and language development
• Motor delay

SOURCES: OMIM ORPHANET MENDELIAN

Medium match SPECTRIN-ASSOCIATED AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA

Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).

SPECTRIN-ASSOCIATED AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA Is also known as infantile-onset spinocerebellar ataxia-psychomotor delay syndrome|cerebellar ataxia, autosomal recessive, spectrin-associated, 1|ataxie spinocÉrÉbelleuse À dÉbut infantile avec retard psychomoteur|spectrin-associated autosomal recessive cerebellar ataxia

• Intellectual disability
• Global developmental delay
• Ataxia
• Nystagmus
• Strabismus

SOURCES: ORPHANET OMIM MENDELIAN

Medium match SPINOCEREBELLAR ATAXIA TYPE 29

Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.

SPINOCEREBELLAR ATAXIA TYPE 29 Is also known as cnpca|aplasia of cerebellar vermis|congenital nonprogressive spinocerebellar ataxia|cerebellar vermis aplasia|sca29|cerebellar ataxia, congenital nonprogressive, autosomal dominant|acv

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

SOURCES: ORPHANET OMIM MESH MENDELIAN