OMIM : 56 Raynaud-Claes syndrome is an X-linked intellectual developmental disorder characterized by borderline to severe intellectual disability and impaired language development. [malacards.org]

Definition An X-linked syndrome characterized by borderline to severe intellectual disability and impaired language development. [uniprot.org]

[…] abnormality; Bipolar affective disorder; Cerebral cortical atrophy; Cerebral visual impairment; Coarse facial features; Depressivity; Downslanted palpebral fissures; Epileptic encephalopathy; Generalized hypotonia; Global developmental delay; Intellectual disability [mousephenotype.org]

Name intellectual disability, X-linked, syndromic, Claes-Jensen type FlyBase ID FBhh0000849 Disease Ontology Term Parent Disease This report describes intellectual disability, X-linked syndromic, Claes-Jensen type; an alternative designation of this disease [flybase.org]

(PMID: 10564087) Kawasaki M … Sasaki S (The American journal of physiology 1999) 3 4 23 54 X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. [genecards.org]

delay; Intellectual disability, mild; Long face; Lower limb spasticity; Mandibular prognathia; Midface retrusion; Obsessive-compulsive behavior; Progressive cerebellar ataxia; Scoliosis; Seizures; Strabismus; X-linked dominant inheritance; X-linked recessive [mousephenotype.org]

delay and intellectual disability disorders [14, 15]. [clinicalepigeneticsjournal.biomedcentral.com]

[…] implicated [LYSINE-SPECIFIC DEMETHYLASE 5C; KDM5C]() Symptoms and phenotype MRXSCJ is characterized by severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy [flybase.org]

They are used primarily to treat epilepsy and neuropathic pain. [en.wikipedia.org]

Raynaud syndrome Other names Raynaud's, Raynaud's disease, Raynaud's phenomenon, Raynaud's syndrome[1] A hand with pale fingers due to Raynaud's Pronunciation ray-NOH Specialty Rheumatology Symptoms An affected part turning white, then blue, then red, [en.wikipedia.org]

#Raynaud# Primario# Secundario# Lancet2001;357:2042–48 martes, 10 de septiembre de 13 Raynaud’s phenomenon is classified as primary (formerly Raynaud’s disease) if there is no known underlying illness and secondary (formerly Raynaud’s syndrome) if there [es.slideshare.net]

facial features; Depressivity; Downslanted palpebral fissures; Epileptic encephalopathy; Generalized hypotonia; Global developmental delay; Intellectual disability, mild; Long face; Lower limb spasticity; Mandibular prognathia; Midface retrusion; Obsessive-compulsive [mousephenotype.org]

[…] encephalopathy; Generalized hypotonia; Global developmental delay; Intellectual disability, mild; Long face; Lower limb spasticity; Mandibular prognathia; Midface retrusion; Obsessive-compulsive behavior; Progressive cerebellar ataxia; Scoliosis; Seizures; Strabismus [mousephenotype.org]

15; MRX15, MENTAL RETARDATION, X-LINKED 49; MRX49 Classification genetic, neurological Phenotypes Absent speech; Aggressive behavior; Anxiety; Autistic behavior; Behavioral abnormality; Bipolar affective disorder; Cerebral cortical atrophy; Cerebral visual [mousephenotype.org]

behavior; Progressive cerebellar ataxia; Scoliosis; Seizures; Strabismus; X-linked dominant inheritance; X-linked recessive inheritance Associated Genes CLCN4 (Withdrawn symbols: CLC4, ClC-4 ) Mouse Orthologs Clcn4 (Withdrawn symbols: Clc4-2, Clcn4-2 [mousephenotype.org]

[…] symbols: CLC4, ClC-4 ) Mouse Orthologs Clcn4 (Withdrawn symbols: Clc4-2, Clcn4-2 ) Source OMIM:300114 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols, gene orthology) HPO (phenotypes) [mousephenotype.org]

Name Raynaud-Claes Syndrome Synonyms MENTAL RETARDATION, X-LINKED 15; MRX15, MENTAL RETARDATION, X-LINKED 49; MRX49 Classification genetic, neurological Phenotypes Absent speech; Aggressive behavior; Anxiety; Autistic behavior; Behavioral abnormality; [mousephenotype.org]

Additional features include behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms. [malacards.org]

Epileptic encephalopathy; Generalized hypotonia; Global developmental delay; Intellectual disability, mild; Long face; Lower limb spasticity; Mandibular prognathia; Midface retrusion; Obsessive-compulsive behavior; Progressive cerebellar ataxia; Scoliosis; Seizures [mousephenotype.org]

Additional features include behavioral problems, psychiatric disorders, seizures (variable forms), progressive ataxia, brain abnormalities, and facial dysmorphisms. [ncbi.nlm.nih.gov]

lidocaine infusions; implanted opioid pump; in rare cases amputation Medication Anti-seizure medications for nerve pain (e.g. [en.wikipedia.org]

Additional features include behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms. [malacards.org]

[…] palpebral fissures; Epileptic encephalopathy; Generalized hypotonia; Global developmental delay; Intellectual disability, mild; Long face; Lower limb spasticity; Mandibular prognathia; Midface retrusion; Obsessive-compulsive behavior; Progressive cerebellar ataxia [mousephenotype.org]

Additional features include behavioral problems, psychiatric disorders, seizures (variable forms), progressive ataxia, brain abnormalities, and facial dysmorphisms. [ncbi.nlm.nih.gov]

Additional features include behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms. {ECO:0000269 PubMed:23647072, ECO:0000269 PubMed:25644381}. [genecards.org]

Additional features include behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms. [malacards.org]

Additional features include behavioral problems, psychiatric disorders, seizures (variable forms), progressive ataxia, brain abnormalities, and facial dysmorphisms. [ncbi.nlm.nih.gov]

Additional features include behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms. {ECO:0000269 PubMed:23647072, ECO:0000269 PubMed:25644381}. [genecards.org]

Mutations in the CLCN4 gene are also responsible for Raynaud-Claes syndrome (OMIM 300114), an X-linked intellectual developmental disorder characterized by borderline to severe intellectual disability and impaired language development; behavioral problems [autism.mindspec.org]

ataxia; Scoliosis; Seizures; Strabismus; X-linked dominant inheritance; X-linked recessive inheritance Associated Genes CLCN4 (Withdrawn symbols: CLC4, ClC-4 ) Mouse Orthologs Clcn4 (Withdrawn symbols: Clc4-2, Clcn4-2 ) Source OMIM:300114 (names, synonyms [mousephenotype.org]

Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy. Clin Epigenetics. 2016;8(1):91. 11. [clinicalepigeneticsjournal.biomedcentral.com]

Absent speech; Aggressive behavior; Anxiety; Autistic behavior; Behavioral abnormality; Bipolar affective disorder; Cerebral cortical atrophy; Cerebral visual impairment; Coarse facial features; Depressivity; Downslanted palpebral fissures; Epileptic encephalopathy [mousephenotype.org]

(PMID: 25644381) Hu H … Kalscheuer VM (Molecular psychiatry 2016) 3 4 54 Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. (PMID: 23647072) Veeramah KR … Hammer MF (Epilepsia 2013) 3 4 54 [genecards.org]