All individuals with variants in gene MAPRE2

4 entries on 1 page. Showing entries 1 - 4.
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00072150 26637975-PatM2 PubMed: Isrie 2015, Journal: Isrie 2015 2-generation family, affected, unaffected heterozygous carrier parents; father might have had minor folds as a baby - yes Spain - >00y15m - - - CSCSC1 no decreased head circumference present at birth (-HP:0011451), no reduced head circumference – current (-HP:0000252), cleft palate (HP:0000175), creases limbs (HP:?), creases neck (HP:?), flat face (HP:0012368), microphthalmia (HP:0000568), short palpebral fissures (HP:0012745), epicanthal folds (HP:0000286), low broad nasal bridge (-HP:0000431), lowset (HP:0000369), small dysplastic ears (HP:0000377), hypoplastic scrotum (HP:0000046), coronal hypospadias (HP:0008743), intellectual disability, moderate (HP:0002342) to intellectual disability, severe (HP:0010864), mildly dilated lateral ventricles (HP:0006956), corpus callosum hypoplasia (HP:0002079), seizures (HP:0001250) 1 1 Jamie Zeegers
00072151 26637975-PatM8 PubMed: Isrie 2015, Journal: Isrie 2015 2-generation family, 1 affected, parents not available - yes Tunisia - >19y - - - CSCSC1 decreased head circumference present at birth (HP:0011451), reduced head circumference – current (HP:0000252), cleft palate (HP:0000175), creases limbs (HP:?), elongated face (HP:0000300), hypertelorism (HP:0000316), bilateral epicanthic folds (HP:0000286), upslanting palpebral fissures (HP:0000582), microphthalmia (HP:0000568), strabismus (HP:0000486), wide nasal bridge (HP:0000431), aberrant teeth (HP:0006482), low-set posteriorly rotated ears (HP:0000368) with overfolded thick helices (HP:0000391), short neck (HP:0000470), widely spaced nipples (HP:0006610), hypospadias (HP:0000047), undescended testes (HP:0000028), second and third toe syndactyly (HP:0004691), intellectual disability, moderate (HP:0002342), unable to walk (HP:0002540), unable to speak (HP:0002371), hypoplastic vermis (HP:0001320), hypoplastic corpus callosum (HP:0002079), mild dilatation of ventricles (HP:0006956), deafness (HP:0000365), seizures (HP:0001250) and ureterocele with vesical reflux (HP:0008714 ) without impairment of the renal function (-HP:0012622) 1 1 Jamie Zeegers
00072152 26637975-PatM9 PubMed: Isrie 2015, Journal: Isrie 2015 2-generation family, 1 affected, unaffected non-carrier parents - no Belgium - >08y09m - - - CSCSC1 decreased head circumference present at birth (HP:0011451), reduced head circumference – current (HP:0000252), creases limbs; disappeared around age 4 years (HP:?), no cleft palate (-HP:0000175), flat face (HP:0012368), low set anterior hairline (HP:0000294), microphthalmia (HP:0000568), bilateral epicanthic folds (HP:0000286), small downslanting palpebral fissures (HP:0000494), ptosis (HP:0000508), synophris (HP:0000664), broad nasal bridge (HP:0000431), dysplastic small (HP:0000377), low-set and posteriorly rotated ears (HP:0000368) with overfolded helices (HP:0000396), upturned ear lobes (HP:0009909); microstomia (HP:0000160)with thin upper lip (HP:0000219), small chin (HP:0000331), short hands (HP:0004279), tapering fingers (HP:0001182), intellectual disability, mild (HP:0001256) to normal 1 1 Jamie Zeegers
00072153 26637975-PatM1 PubMed: Isrie 2015, Journal: Isrie 2015 2-generation family, 1 affected, affected heterozygous carrier mother (mild cognitive impairment, similar facial phenotype) - no Belgium - >06y - - - CSCSC1 decreased head circumference present at birth (HP:0011451), reduced head circumference – current (HP:0000252), cleft palate (HP:0000175), limbs; spontaneous improvement (HP:?), microphthalmia (HP:0000568) with small upslanting palpebral fissures (HP:0000582), epicanthal folds (HP:0000286), broad nasal bridge (HP:0000431), flat midface (HP:0040199), small mouth (HP:0000160), small chin (HP:0000331), clinodactyly of fifth fingers (HP:0004209), intellectual disability, mild (HP:0001256) to intellectual disability, moderate (HP:0002342) 1 2 Jamie Zeegers
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