Delayed speech and language development, and Dysarthria

Medium match POLYMICROGYRIA, BILATERAL PERISYLVIAN, X-LINKED; BPPX

Polymicrogyria (PMG) is a malformation of cortical development in which the brain surface is irregular and the normal gyral pattern replaced by multiple small, partly fused gyri separated by shallow sulci. Microscopic examination shows a simplified 4-layered or unlayered cortex. Several patterns of PMG, including bilateral frontal, bilateral perisylvian, and bilateral mesial occipital PMG, have been described on the basis of their topographic distribution. All but the perisylvian form appear to be rare. Bilateral perisylvian PMG (BPP) often results in a typical clinical syndrome that is manifested by mild mental retardation, epilepsy, and pseudobulbar palsy, which causes difficulties with expressive speech and feeding (Kuzniecky et al., 1993).PMG may be a feature of other conditions as well (see, e.g., {300643}).

POLYMICROGYRIA, BILATERAL PERISYLVIAN, X-LINKED; BPPX Is also known as pmgx, bpp, perisylvian syndrome, congenital bilateral;cbps;

• Cognitive impairment
• Delayed speech and language development
• Polymicrogyria
• Generalized tonic-clonic seizures
• X-linked dominant inheritance

SOURCES: ORPHANET OMIM SCTID UMLS MONDO

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 DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE; DYT2

Torsion dystonia-2 is an autosomal recessive neurologic disorder characterized by onset of symptoms in childhood or adolescence. 'Dystonia' is characterized by involuntary, sustained muscle contractions affecting 1 or more sites of the body; 'torsion' refers to the twisting nature of body movements observed in dystonia. DYT2 first affects distal limbs and later involves the neck, orofacial, and craniocervical regions. DYT2 is slowly progressive but mild overall (summary by Muller and Kupke, 1990; Nemeth, 2002; Khan et al., 2003).

DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE; DYT2 Is also known as dystonia musculorum deformans 2;dyt2

• Autosomal recessive inheritance
• Delayed speech and language development
• Dysarthria
• Gait disturbance
• Tremor

SOURCES: GARD DOID ORPHANET UMLS MONDO NCIT OMIM MESH

Medium match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24; SCAR24

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

SOURCES: UMLS MONDO OMIM

Medium 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

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 WAISMAN SYNDROME; WSMN

Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.

WAISMAN SYNDROME; WSMN Is also known as parkinsonism, early-onset, with mental retardation, basal ganglion disorder with mental retardation;bgmr, wsn;laxova-opitz syndrome; waisman syndrome

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

SOURCES: OMIM MONDO MESH UMLS SCTID GARD ORPHANET

Medium match DYSTONIA 16; DYT16

Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.

DYSTONIA 16; DYT16 Is also known as ;dyt16; early-onset dystonia parkinsonism

• Autosomal recessive inheritance
• Global developmental delay
• Motor delay
• Cognitive impairment
• Delayed speech and language development

SOURCES: MESH GARD MONDO DOID SCTID OMIM UMLS ORPHANET

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49; MRT49

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49; MRT49 Is also known as ;

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

SOURCES: UMLS MONDO OMIM ORPHANET

Medium match SPINOCEREBELLAR ATAXIA 44; SCA44

• Hearing impairment
• Ataxia
• Motor delay
• Spasticity
• Delayed speech and language development

SOURCES: MONDO DOID OMIM UMLS