Disease #00823 (MRXSCJ (mental retardation, X-linked, syndromic, Claes-Jensen type), OMIM:300534)

Official abbreviation MRXSCJ
Name mental retardation, X-linked, syndromic, Claes-Jensen type
OMIM ID 300534
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked recessive
Individuals reported having this disease 17
Phenotype entries for this disease 13
Associated with 1 gene KDM5C
Associated tissues -
Disease features -
Remarks -


Individuals

17 entries on 1 page. Showing entries 1 - 17.
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00392036 148P - - M no Spain - - - - - MRXSCJ - - KDM5C 1 1 Alejandro Brea-Fernández
00405782 PL-3 III:1 Leonardi 2022, submitted Family diagnosed by Dept. of Medical Genetics, Institute of Mother and Child, Poland. Two generation family: asymptomatic mother; three maternal uncles with MRSXCJ M ? Poland - - 0 - - MRXSCJ Short stature (HP:0004322), Global developmental delay (HP:0001263), Intellectual disability, severe HP:0010864, Bilateral tonic-clonic seizure HP:0002069, Hyperreflexia HP:0001347, Sleep disturbance HP:0002360, Attention deficit hyperactivity disorder HP:0007018, Mood swings HP:0000720, Aggressive behavior HP:0000718, Severe temper tantrums HP:0025162 - KDM5C 1 3 Emanuela Leonardi
00405784 PL-3 II:9 Leonardi 2022, submitted Dept. of Medical Genetics, Institute of Mother and Child, Poland F ? Poland - - 0 - - MRXSCJ Asymptomatic - KDM5C 1 2 Emanuela Leonardi
00405804 PL-3 II:4 Leonardi 2022, submitted Family diagnosed by Dept. of Medical Genetics, Institute of Mother and Child, Poland M ? Poland - - 0 - - MRXSCJ - KDM5C KDM5C 1 1 Emanuela Leonardi
00405805 PD-3827 Leonardi 2022, submitted - M ? Italy - - 0 - - MRXSCJ Infantile axial hypotonia HP:0009062, Limb hypertonia HP:0002509, Hypothyroidism HP:0000821, Hypermetropia HP:0000540, Exophoria HP:0025313, convergent strabismus HP:0020045, - KDM5C 1 1 Emanuela Leonardi
00405807 NA-UKLB1/DECIPHER264839 Leonardi 2022, submitted Patient diagnosed by Medical Genetic Unit, St George’s University of London, South West Thames Regional Genetics Services M ? England - - 0 - - MRXSCJ - - KDM5C 1 1 Emanuela Leonardi
00408280 PD-3535 Leonardi 2022, submitted Diagnosed by Genetics of Neurodevelopmental diosrder, University Hospital of Padova, Italy M ? Albania - - 0 - - MRXSCJ Intellectual disability, mild HP:0001256; Growth delay HP:0001510; Severe temper tantrums HP:0025162; Aggressive behavior HP:0000718; Seizure HP:0001250 - KDM5C 1 1 Emanuela Leonardi
00408281 UDNRM1018C.A Leonardi 2022, submitted Diagnosed by University of Campania “Luigi Vanvitelli”; Caserta, Italy M ? Italy - - 0 - - MRXSCJ - - KDM5C 1 1 Emanuela Leonardi
00408282 PL-1 III1 Leonardi 2022, submitted Diagnosed by Department of Clinical Genetics, Medical University in Bialystok, Bialystok, Poland M ? Poland - - 0 - - MRXSCJ - - KDM5C 1 1 Emanuela Leonardi
00408285 PD-3597 Leonardi 2022, submitted Diagnosed by Molecular Genetics of Neurodevelopment, Dept. of Women's and Children's Health, University of Padova, Italy F no Italy - - 0 - - MRXSCJ Autistic behavior HP:0000729; Intellectual disability, moderate HP:0002342; - KDM5C 1 1 Emanuela Leonardi
00408297 NA-LE Leonardi 2022, submitted - M ? Italy - - 0 - - MRXSCJ Intellectual disability, severe HP:0010864; Attention deficit hyperactivity disorder HP:0007018; Spasticity HP:0001257; Seizure HP:0001250 - KDM5C 1 1 Emanuela Leonardi
00408298 PD-3021 Leonardi 2022, submitted Diagnosed by Dept of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy M ? Italy - - 0 - - MRXSCJ Intellectual disability, severe HP:0010864; Severe temper tantrums HP:0025162; Attention deficit hyperactivity disorder HP:0007018; Aggressive behavior HP:0000718; Sleep disturbance HP:0002360 - KDM5C 1 1 Emanuela Leonardi
00408300 PL-2 Leonardi 2022, submitted - M ? Poland - - 0 - - MRXSCJ - - KDM5C 1 1 Emanuela Leonardi
00408317 LA-MI Leonardi 2022, submitted Diagnosed by Neurophysiopathology Unit, Fondazione IRCCS “Ca' Granda” Ospedale Maggiore Policlinico, Milano, Italy M ? Italy - - 0 - - MRXSCJ - - KDM5C 1 1 Emanuela Leonardi
00408318 PD-2616 Leonardi 2022, submitted Diagnosed by Dept. of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy F yes Pakistan - - 0 - - MRXSCJ, Fucosidosis - FUCA1, KDM5C FUCA1, KDM5C 2 1 Emanuela Leonardi
00408319 PD-4009 Leonardi 2022, submitted diagnosed by Movement Disorders Unit, Dept. of Neuroscience, University of Padua, Padua, Italy F no (Italy) - - 0 - - MRXSCJ - GRIA3, KDM5C GRIA3, KDM5C 2 1 Emanuela Leonardi
00408320 NA-BN Leonardi 2022, submitted Diagnosed by Medical Genetics Unit, A.O.R.N. "San Pio", Benevento, Italy M no Italy - - 0 - - MRXSCJ - - KDM5C 1 1 Emanuela Leonardi
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