Cataract, and Cerebellar atrophy

Low match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24; SCAR24

• Ataxia
• Growth delay
• Nystagmus
• Cataract
• Delayed speech and language development

SOURCES: OMIM MENDELIAN

Low match CONGENITAL CATARACT-HEARING LOSS-SEVERE DEVELOPMENTAL DELAY SYNDROME

Congenital cataract-hearing loss-severe developmental delay syndrome is a rare, genetic, lethal, neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe, generalized muscular hypotonia, and central nervous system abnormalities (incl. cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces), in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported.

CONGENITAL CATARACT-HEARING LOSS-SEVERE DEVELOPMENTAL DELAY SYNDROME Is also known as congenital cataract-deafness-severe developmental delay syndrome|lethal neurodegenerative disorder due to copper transport defect

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

SOURCES: ORPHANET OMIM MENDELIAN

Low match MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY

Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.

MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY Is also known as microcephalic primordial dwarfism, walsh type

• Microcephaly
• Micrognathia
• Cataract
• Spasticity
• Flexion contracture

SOURCES: OMIM ORPHANET MENDELIAN

Low match DYSEQUILIBRIUM SYNDROME

Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.

DYSEQUILIBRIUM SYNDROME Is also known as cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome|cerebellar hypoplasia, vldlr-associated|non-progressive cerebellar ataxia-intellectual disability syndrome|cerebellar ataxia and mental retardation with or without quadrupedal loco

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

SOURCES: OMIM ORPHANET MENDELIAN

Low match MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2

Microcephaly and chorioretinopathy-2 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, visual impairment, and short stature (summary by Martin et al., 2014).For a discussion of genetic heterogeneity of microcephaly and chorioretinopathy, see MCCRP1 (OMIM ).

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

SOURCES: OMIM MENDELIAN

Low match AUTOSOMAL DOMINANT OPTIC ATROPHY AND CATARACT

Autosomal dominant optic atrophy and cataract (ADOAC) is a form of autosomal dominant optic atrophy (ADOA; see this term) characterized by an early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. ADOAC is caused by mutations in the OPA3 gene (19q13.32).

AUTOSOMAL DOMINANT OPTIC ATROPHY AND CATARACT Is also known as optic atrophy and cataract, autosomal dominant|opa3, autosomal dominant|autosomal dominant optic atrophy type 3

• Ataxia
• Nystagmus
• Pain
• Cataract
• Visual impairment

SOURCES: MESH ORPHANET OMIM MENDELIAN

Low match ADULT-ONSET AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA

Autosomal recessive spinocerebellar ataxia-10 is an autosomal recessive neurodegenerative disorder with onset in the teenage or young adult years of gait and limb ataxia, dysarthria, and nystagmus associated with marked cerebellar atrophy on brain imaging (summary by Vermeer et al., 2010). Some patients have low levels of coenzyme Q10 (CoQ10) in muscle and may show some clinical improvement with CoQ10 treatment (Balreira et al., 2014).

ADULT-ONSET AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA Is also known as scar10|autosomal recessive spinocerebellar ataxia type 10

• Intellectual disability
• Seizures
• Ataxia
• Nystagmus
• Cataract

SOURCES: OMIM ORPHANET MENDELIAN

Low match POLYNEUROPATHY-HEARING LOSS-ATAXIA-RETINITIS PIGMENTOSA-CATARACT SYNDROME

Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life.

POLYNEUROPATHY-HEARING LOSS-ATAXIA-RETINITIS PIGMENTOSA-CATARACT SYNDROME Is also known as peripheral neuropathy, fiskerstrand type|pharc syndrome

• Seizures
• Hearing impairment
• Ataxia
• Nystagmus
• Sensorineural hearing impairment

SOURCES: MESH OMIM ORPHANET MENDELIAN

Low match SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY

Peroxisomal fatty acyl-CoA reductase-1 disorder is an autosomal recessive disorder characterized by onset in infancy of severely delayed psychomotor development, growth retardation with microcephaly, and seizures. Some patients may have congenital cataracts and develop spasticity later in childhood. Biochemical studies tend to show decreased plasmalogen, consistent with a peroxisomal defect. The disorder is reminiscent of rhizomelic chondrodysplasia punctata (see, e.g., RCDP1, {215100}), although the characteristic skeletal abnormalities observed in RCDP are absent (Buchert et al., 2014).

SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY Is also known as severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder|severe intellectual disability-epilepsy-cataract syndrome due to far1 deficiency

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

SOURCES: ORPHANET OMIM MENDELIAN

Low match AUTOSOMAL DOMINANT CEREBELLAR ATAXIA-DEAFNESS-NARCOLEPSY SYNDROME

Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.

AUTOSOMAL DOMINANT CEREBELLAR ATAXIA-DEAFNESS-NARCOLEPSY SYNDROME Is also known as adca-dn syndrome

• Hearing impairment
• Ataxia
• Nystagmus
• Sensorineural hearing impairment
• Cataract

SOURCES: ORPHANET OMIM MENDELIAN