Disease #05169 (MGORS (Meier-Gorlin syndrome (MGORS)))

Official abbreviation MGORS
Name Meier-Gorlin syndrome (MGORS)
OMIM ID -
Inheritance -
Individuals reported having this disease 7
Phenotype entries for this disease 6
Associated with 2 genes CDC45, CDT1
Associated tissues -
Disease features -
Remarks -
Date created 2016-05-26 15:16:56 +02:00 (CEST)
Date last edited N/A


Individuals

7 entries on 1 page. Showing entries 1 - 7.
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00065288 - PubMed: Burrage 2015, Journal: Burrage 2015 2-generation family, 1 affected, unaffected non-carrier parents (mother had multiple spontaneous miscarriages) F ? - - >00y34m - - - MGORS short stature (HP:0004322), microtia (HP:0008551), patella aplasia (HP:0006443), low birth weight (HP:0001518), low weight (HP:0004325), reduced head circumference (HP:0000252), delayed bone age (HP:0002750), frontal bossing (HP:?) or high forehead (HP:0000348), down-slanted palpebral fissures (HP:0000494), posteriorly rotated ears (HP:0000358), upturned nose (HP:0000463), hypoplastic nares (HP:0000430), full lips (HP:0012471), micro-/retrognathia (HP:0000308), no motor delay (-HP:0001270), no speech delay (-HP:0000750), no pulmonary emphysema (-HP:0002097), laryngomalacia (HP:0001601), tracheo-/bronchomalacia (HP:0002786), feeding problems in infancy (HP:0011968), failure to thrive (HP:0001508), gastresophageal reflux (HP:0002020), abnormal genitalia (HP:0010460), hypoplastic labia majora (HP:0000059), trichiasis (HP:0001128), nanophthalmos (HP:0000568) GMNN GMNN 1 1 Jamie Zeegers
00065295 - PubMed: Burrage 2015, Journal: Burrage 2015 2-generation family, 1 affected, unaffected non-carrier parent; previously described by Bongers (patient 2) and de Munnik (subject 2) M - - - >17y - - - MGORS short stature (HP:0004322), microtia (HP:0008551), patella aplasia (HP:0006443), low birth weight (HP:0001518), reduced birth lengt (HP:?), birth head circumference (HP:0011451), low weight (HP:0004325), delayed bone age (HP:0002750), frontal bossing (HP:?) or high forehead (HP:0000348), no down-slanted palpebral fissures (-HP:0000494), no posteriorly rotated ears (-HP:0000358), no upturned nose (-HP:0000463), hypoplastic nares (HP:0000430), full lips (HP:0012471), micro-/retrognathia (HP:0000308), motor delay (HP:0001270), speech delay (HP:0000750), developmental assessment (HP:?), pulmonary emphysema (HP:0002097), no laryngomalacia (-HP:0001601), no tracheo-/bronchomalacia (-HP:0002786), feeding problems in infancy (HP:0011968), failure to thrive (HP:0001508), no gastresophageal reflux (-HP:0002020), no abnormal genitalia (-HP:0010460), hypospadias (HP:0000047), cryptorchidism (HP:0000028), no rIncreased/marked lumbar lordosis (HP:0002938) Urethral stenosis/ dysplasia (HP:0008661)enal anomalies (-HP:0000077), GMNN GMNN 1 1 Jamie Zeegers
00065297 - PubMed: Burrage 2015, Journal: Burrage 2015 2-generation family, 1 affected, unaffected non-carrier parent F no - Dutch >03y04m - - - MGORS short stature (HP:0004322), microtia (HP:0008551), patella aplasia (HP:0006443), reduced birth weight (HP:0001518), reduced birth lengt (HP:?), reduced weight (HP:0004325), reduced head circumference (HP:0000252), frontal bossing (HP:?) or high forehead (HP:0000348), no down-slanted palpebral fissures (-HP:0000494), posteriorly rotated ears (HP:0000358), no upturned nose (-HP:0000463), hypoplastic nares (HP:0000430), full lips (HP:0012471), micro-/retrognathia (HP:0000308), motor delay (HP:0001270), speech delay (HP:0000750), developmental assessment IQ= 59 at age 14 years (HP:?), no pulmonary emphysema (-HP:0002097), no laryngomalacia (-HP:0001601), no tracheo-/bronchomalacia (-HP:0002786), feeding problems in infancy (HP:0011968), no failure to thrive (-HP:0001508), no gastresophageal reflux (-HP:0002020), no renal anomalies (HP:0000077 ), Increased/marked lumbar lordosis (HP:0002938), bilateral congenital hip subluxation (HP:0030043), strabismus (HP:0000486), cleft palate (palatum molle) (HP:0000175) GMNN GMNN 1 1 Jamie Zeegers
00081271 - - - M no Italy white - - y - MGORS - Growth parameters below the 3rd centile; no microcephaly. Normal Psychomotor development and brain NMR. - MCM5 2 1 Annalisa Vetro
00306909 - - - - - - - - - - - MGORS - - CDC45 2 1 Louise Bicknell
00324523 - - - F no Australia - - - - - MGORS short stature microcephaly microtia bilateral absent patella absent breast development - MCM7 2 1 Louise Bicknell
00324525 - - - F yes Turkey - - - - - MGORS short stature microcephaly microtia congenital lobar emphysema myopia - MCM3 1 1 Louise Bicknell
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