Delayed speech and language development, and Abnormal cerebellum morphology

Low match CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES; CADEDS

• Seizures
• Global developmental delay
• Cerebellar atrophy
• Generalized myoclonic seizures

SOURCES: OMIM

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY; MRT34

MRT34 is an autosomal recessive neurologic disorder characterized by mild to moderate intellectual disability and megalencephaly or enlarged head circumference. Brain imaging shows a mild variant of lissencephaly with anterior-predominant pachygyria with shallow and unusually wide sulci and mildly thickened cortex. Some patients may have seizures (summary by Di Donato et al., 2016).

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Delayed speech and language development

SOURCES: UMLS MONDO OMIM

Low match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15 Is also known as salih ataxia;autosomal recessive spinocerebellar ataxia type 15; scar15; salih ataxia

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Ataxia
• Nystagmus

SOURCES: DOID MONDO UMLS OMIM ORPHANET

Low match GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9; GEFSP9

Generalized epilepsy with febrile seizures plus-9 is an autosomal dominant neurologic disorder characterized by onset of febrile and/or afebrile seizures in early childhood, usually before age 3 years. Seizure types are variable and include generalized tonic-clonic, atonic, myoclonic, complex partial, and absence. Most patients have remission of seizures later in childhood with no residual neurologic deficits, but rare patients may show mild developmental delay or mild intellectual disabilities (summary by Schubert et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see {604233}.

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9; GEFSP9 Is also known as gefs+, type 9;gefs+9

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia

SOURCES: MONDO UMLS OMIM

Low match CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6; CDCBM6

• Autosomal dominant inheritance
• Intellectual disability
• Global developmental delay
• Microcephaly
• Ataxia

SOURCES: OMIM MONDO UMLS DOID

Low match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24; SCAR24

• Autosomal recessive inheritance
• Ataxia
• Growth delay
• Nystagmus
• Cataract

SOURCES: UMLS MONDO OMIM

Low match CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5; CDCBM5

• Autosomal dominant inheritance
• Seizures
• Global developmental delay
• Generalized hypotonia
• Ventriculomegaly

SOURCES: UMLS OMIM MONDO DOID

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53

Autosomal recessive mental retardation-53 is a neurodevelopmental disorder characterized by severely delayed psychomotor development, hypotonia apparent since infancy, and early-onset seizures in most patients. Some patients may have additional features, such as cerebellar hypoplasia and ataxia. MRT53 is one of a group of similar neurologic disorders resulting from biochemical defects in the glycosylphosphatidylinositol (GPI) biosynthetic pathway (summary by Makrythanasis et al., 2016).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53 Is also known as glycosylphosphatidylinositol biosynthesis defect 13;gpibd13

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia

SOURCES: OMIM UMLS MONDO

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37; EIEE37

Early infantile epileptic encephalopathy-37 is an autosomal recessive severe epileptic-dyskinetic disorder characterized by onset of intractable seizures or abnormal movements in the first years of life. Affected individuals show global developmental delay and/or developmental regression after onset of seizures. Patients also show a hyperkinetic movement disorder with choreoathetosis, spasticity, and rigidity. The individuals are severely affected, with mental retardation, absent speech, and impaired volitional movements (summary by Madeo et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia

SOURCES: UMLS MONDO OMIM

Low match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14; SCAR14

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).

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14; SCAR14 Is also known as cerebellar ataxia, autosomal recessive, spectrin-associated, 1;sparca1;ataxie spinocérébelleuse à début infantile avec retard psychomoteur; autosomal recessive spinocerebellar ataxia type 14; infantile-onset spinocerebellar ataxia-psychomotor delay syndrome; scar14; sparca; sparca1; spectrin-associated autosomal recessive cerebellar ataxia type 1

• Autosomal recessive inheritance
• Global developmental delay
• Ataxia
• Nystagmus
• Strabismus

SOURCES: ORPHANET UMLS DOID MONDO OMIM