Disease #05392 (CPCMR (cleft palate, cardiac defects, and mental retardation (CPCMR)), OMIM:600987)

Official abbreviation CPCMR
Name cleft palate, cardiac defects, and mental retardation (CPCMR)
OMIM ID 600987
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 12
Phenotype entries for this disease 11
Associated with 1 gene MEIS2
Associated tissues brain;mouth;heart muscle
Disease features autosomal dominant
Remarks -
Date created 2018-02-02 12:22:52 +01:00 (CET)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

12 entries on 1 page. Showing entries 1 - 12.
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00152012 Pat1 PubMed: Verheije 2019, Journal: Verheije 2019 - M no Morocco - 05y - - - CPCMR cleft palate (HP:0000175); prominent metopic ridge (HP:HP:0005487); downslanting palpebral fissures (HP:0000494); eversion of lower eyelids (HP:0007655); arched eyebrows (HP:0002553); hypoplastic alae nasi (HP:0000430); intellectual disability, mild (HP:0001256); perimembranous ventricular septal defect (HP:0011682); microcephaly (HP:0000252) MEIS2 MEIS2 1 1 Jeroen Breckpot
00152013 Pat2 PubMed: Verheije 2019, Journal: Verheije 2019 - M no Ireland - 10y11m - - - CPCMR unilateral ptosis (HP:0007687); dysplastic ears (HP:0000377); intellectual disability, mild to moderate (HP:0001256); cleft palate (HP:0000175); autism (HP:0000717) MEIS2 MEIS2 1 1 Jeroen Breckpot
00152014 Pat3 PubMed: Verheije 2019, Journal: Verheije 2019 - M no - - 04y - - - CPCMR submucous cleft palate (HP:0011819); prominent metopic ridge (HP:0005487); protruding ears (HP:0000411); epicanthic folds (HP:0000286); hypoplastic alae nasi (HP:0000430); prominent ears (HP:0000411); frontal upsweep of hair (HP:0002236); intellectual disability, moderate (HP:0002342) MEIS2 MEIS2 1 1 Jeroen Breckpot
00152015 Pat4 PubMed: Verheije 2019, Journal: Verheije 2019 - F no - - 20y - - - CPCMR cleft palate (HP:0000175); mitral regurgitation (HP:0001653); broad forehead (HP:0000337); bitemporal narrowing (HP:0000341) MEIS2 MEIS2 1 1 Jeroen Breckpot
00152123 Pat5 PubMed: Verheije 2019, Journal: Verheije 2019 - M no - - 13y - - - CPCMR bifid uvula (HP:0000193); broad forehead (HP:0000337); medial flaring of eyebrows (HP:0010747); hypertelorism (HP:0000316); distichiasis (HP:0009743); thin upper lip (HP:0000219); beaked nose (HP:0003683); retrognathia (HP:0000278); intellectual disability, mild (HP:0001256); cryptorchidism (HP:0000028); iris nevus (HP:0011525); precocious puberty (HP:0008185); scoliosis (HP:0002650) MEIS2 MEIS2 1 1 Jeroen Breckpot
00152124 Pat6 PubMed: Verheije 2019, Journal: Verheije 2019 - F no - - 05y08m - - - CPCMR cleft palate (HP:0000175); high arched eyebrows (HP:0002553); thin eyebrows (HP:0045074); hypoplastic alae nasi (HP:0000430); short stature (HP:0004322); intellectual disability, mild (HP:0001256); hypoplastic corpus callosum (HP:0007370) MEIS2 MEIS2 1 1 Jeroen Breckpot
00152125 Pat7 PubMed: Verheije 2019, Journal: Verheije 2019 - F no - - 18y03m - - - CPCMR Tetralogy of Fallot (HP:0001636); Ebstein's malformation (HP:0010316); feeding difficulties (HP:0011968); strabismus (HP:0025068); scoliosis (HP:0002650); learning problems (HP:0001328) MEIS2 MEIS2 1 1 Jeroen Breckpot
00152126 Pat8 PubMed: Verheije 2019, Journal: Verheije 2019 - F no Belgium - 11y - - - CPCMR cleft soft palate (HP:0000185); Ebstein's malformation (HP:0010316); VSD (HP:0011682); type secundum atrial septal defect (HP:0001684); high forehead (HP:0000348); broad forehead (HP:0000337); arched eyebrows (HP:0002553); thin eyebrows (HP:0045074); hypoplastic alae nasi (HP:0000430); short philtrum (HP:0000322); lowset ears (HP:0000369); dysplastic ears (HP:0000377); preauricular pit (HP:0004467); intellectual disability (HP:0001256); feeding difficulties (HP:0011968); oligodontia (HP:0000677); overriding toes (HP:0001845) MEIS2 MEIS2 1 1 Jeroen Breckpot
00152128 Pat9 PubMed: Verheije 2019, Journal: Verheije 2019 - M no Germany - 01y01m - - - CPCMR ventricular septal defect (HP:0011682); secundum atrial septal defect (HP:0001684); pulmonary vein stenosis (HP:0005304); frontal bossing (HP:0002007); high frontal hairline (HP:0009890); bitemporal narrowing (HP:0000341); short palpebral fissures (HP:0012745); hypertelorism (HP:0000316); full cheeks (HP:0000293); low nasal bridge (HP:0005280); anteverted nares (HP:0000463); small mouth (HP:0000160); microcephaly (HP:0000252); short stature (HP:0004322); intellectual disability, profound (HP:0002187); duodenal stenosis (HP:0100867); feeding difficulties (HP:0011968); hypothyroidism (HP:0000851); inguinal hernia (HP:0000023) MEIS2 FOXP1, MEIS2 2 1 Jeroen Breckpot
00359545 - PubMed: Santoro 2021 - M no Italy - - - - - CPCMR - NF1 MEIS2, NF1 2 2 Giulio Piluso
00416608 203615 - - F no Germany - - - - - CPCMR Ventricular septal defect, Hypotonia, Motor delay, Expressive language delay, Pes planus, Gait ataxia, Neurodevelopmental abnormality, Impaired social interactions, Sleep disturbance, Delayed speech and language development, Genu valgum, Short stature MEIS2 MEIS2 1 1 Andreas Laner
00433655 - - - - - - - - - - - CPCMR developmental delay, soft cleft palate, ventricular septal defect - MEIS2 1 1 Marketa Wayhelova
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