Delayed speech and language development, and Unsteady gait

Medium 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

Medium match STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET; SNDC

STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET; SNDC Is also known as lenk-ploski syndrome;lenk-ploski syndrome

• Autosomal recessive inheritance
• Delayed speech and language development
• Hyperreflexia
• Dysphagia
• Hypertonia

SOURCES: ORPHANET OMIM UMLS MONDO

Medium match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24; SCAR24

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

SOURCES: UMLS MONDO OMIM

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9; MDDGC9

Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive, mainly proximal, muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9; MDDGC9 Is also known as muscular dystrophy, limb-girdle, type 2p;lgmd2p, muscular dystrophy-dystroglycanopathy, limb-girdle, dag1-related;lgmd2p

• Autosomal recessive inheritance
• Intellectual disability
• Global developmental delay
• Motor delay
• Muscle weakness

SOURCES: GARD OMIM UMLS ORPHANET MONDO DOID

Medium match SPINOCEREBELLAR ATAXIA 29; SCA29

Spinocerebellar ataxia-29 is an autosomal dominant neurologic disorder characterized by onset in infancy of delayed motor development and mild cognitive delay. Affected individuals develop a very slowly progressive or nonprogressive gait and limb ataxia associated with cerebellar atrophy on brain imaging. Additional variable features include nystagmus, dysarthria, and tremor (summary by Huang et al., 2012).Heterozygous mutation in the ITPR1 gene also causes SCA15 (OMIM ), which is distinguished by later age at onset and normal cognition.For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 29; SCA29 Is also known as cerebellar ataxia, congenital nonprogressive, autosomal dominant;cnpca, cerebellar vermis aplasia, aplasia of cerebellar vermis;acv;congenital nonprogressive spinocerebellar ataxia; sca29

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

SOURCES: MESH OMIM GARD ORPHANET DOID SCTID MONDO UMLS

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33; EIEE33

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

SOURCES: MONDO UMLS OMIM

Medium match EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD; IECEE

IECEE is a neurodevelopmental disorder characterized by delayed psychomotor development apparent in infancy and resulting in severe to profound intellectual disability with poor or absent speech. Most patients never achieve independent walking. Patients typically have onset of refractory multifocal seizures between the first weeks and years of life, and some may show developmental regression. Additional features, such as hypotonia and cortical visual impairment, are more variable (summary by Myers et al., 2017).

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

SOURCES: OMIM

Medium match SPINOCEREBELLAR ATAXIA 35; SCA35

Spinocerebellar ataxia-35 is an autosomal dominant adult-onset neurologic disorder characterized by difficulty walking due to cerebellar ataxia. The age at onset ranges from teenage years to late adulthood, and the disorder is slowly progressive. Additional features may include hand tremor, dysarthria, hyperreflexia, and saccadic eye movements (summary by Guo et al., 2014).

SPINOCEREBELLAR ATAXIA 35; SCA35 Is also known as ;sca35

• Autosomal dominant inheritance
• Intellectual disability
• Ataxia
• Nystagmus
• Peripheral neuropathy

SOURCES: ORPHANET DOID OMIM SCTID GARD UMLS MONDO

Medium match LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION; LBSL

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is defined on the basis of a highly characteristic constellation of abnormalities observed by magnetic resonance imaging and spectroscopy (Scheper et al., 2007). Affected individuals develop slowly progressive cerebellar ataxia, spasticity, and dorsal column dysfunction, sometimes with a mild cognitive deficit or decline.

LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION; LBSL Is also known as mitochondrial aspartyl-trna synthetase deficiency;lbsl; leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Generalized hypotonia
• Ataxia

SOURCES: MONDO UMLS MESH ORPHANET GARD SCTID OMIM

Medium match GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

GPIBD15 is an autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Nguyen et al., 2017).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 Is also known as developmental delay, epilepsy, cerebellar atrophy, and osteopenia

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

SOURCES: OMIM