Disease #07114 (MLID (multilocus imprinting disturbances))

Official abbreviation MLID
Name multilocus imprinting disturbances
OMIM ID -
Inheritance -
Individuals reported having this disease 39
Phenotype entries for this disease 39
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2024-11-11 09:01:04 +01:00 (CET)
Date last edited N/A


Individuals

39 entries on 1 page. Showing entries 1 - 39.
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00457400 Fam1PatII2 PubMed: Docherty 2015 daughter F - - - - - - - MLID see paper; ..., Silver Russel syndrome (multilocus imprinting disturbances); birth 32w; - NLRP5 1 1 Johan den Dunnen
00457401 Fam2PatII4 PubMed: Docherty 2015 son M - - - - - - - MLID see paper; ..., Beckwith Wiedemann syndrome (multilocus imprinting disturbances) - NLRP5 1 1 Johan den Dunnen
00457402 Fam3PatII2 PubMed: Docherty 2015 son M - - - - - - - MLID see paper; ..., Beckwith Wiedemann syndrome (multilocus imprinting disturbances) - NLRP5 2 1 Johan den Dunnen
00457403 Fam4PatII2 PubMed: Begemann 2011, PubMed: Doherty 2015 daughter F - Germany - - - - - MLID see paper; ..., Silver Russel syndrome (multilocus imprinting disturbances) - - - 1 Johan den Dunnen
00457404 Fam5PatII3 PubMed: Balpe 2011, PubMed: Docherty 2015 daughter F - - - - - - - MLID see paper; ..., non-specific growth, developmental delay and unusual behaviour (multilocus imprinting disturbances) - NLRP5 1 1 Johan den Dunnen
00457405 Fam2PatII8 PubMed: Docherty 2015 son M - - - - - - - MLID see paper; ..., non-specific developmental and marked behavioural problems (autism, extreme separation anxiety), obesity (multilocus imprinting disturbances) - NLRP5 1 1 Johan den Dunnen
00457406 Fam1PatII8 PubMed: Docherty 2015 son M - - - - - - - MLID see paper; ..., Beckwith Wiedemann syndrome (multilocus imprinting disturbances) - NLRP5 1 1 Johan den Dunnen
00457408 Fam1 PubMed: Begemann 2018 mother of 2 affected children (F, M) and 3 pregnancy losses F - Saudi Arabia - - - - - MLID see paper; ... no heath issues; two children affected by MLID, one early abortion (gw 8), two late miscarriages (gw 24 and gw 36), one healthy child - NLRP2 1 3 Johan den Dunnen
00457409 Fam1Pat1 PubMed: Begemann 2018 son M - Saudi Arabia - - - - - MLID see paper; ..., omphalocele, macroglossia, neonatal hypoglycaemia, heart defect, developmental delay - NLRP2 1 1 Johan den Dunnen
00457410 Fam1Pat2 PubMed: Begemann 2018 daughter F yes Saudi Arabia - - - - - MLID see paper; ..., macroglossia, dysmorphisms, prominent eyes, developmental delay - NLRP2 1 1 Johan den Dunnen
00457411 Fam2 PubMed: Begemann 2011, PubMed: Begemann 2018 mother of affected child, in vitro fertilisation (triplet, not monozygotic) F - Germany - - - - - MLID no health issues, affected from a trizygous triplet resulting from intracytoplasmic sperm injection - NLRP2 1 2 Johan den Dunnen
00457412 Pat20;Fam2Pat3 PubMed: Begemann 2011, PubMed: Begemann 2018 son M - Germany - - - - - MLID see paper; ..., Silver-Russell syndrome (NH-CSS: 6/6) - NLRP2 1 1 Johan den Dunnen
00457413 Fam3 PubMed: Begemann 2018 mother of affected child F - - - - - - - MLID no health issues; sister experienced three pregnancy losses, no liveborn children - NLRP2 1 2 Johan den Dunnen
00457414 Fam3Pat PubMed: Begemann 2018 son M - - - - - - - MLID amniocentesis (high maternal age) Klinefelter-Syndrome; brith 27w-465 g, OFC 32 cm; postnatal growth restriction, respiratory support 2m, gastric tube feeding first year; microcephaly, precocious puberty, dysmorphism; developmental delay moderate to severe mental retardation, severe speech delay, relatively short stature - NLRP2 1 1 Johan den Dunnen
00457415 Fam4 PubMed: Begemann 2018 mother of affected child F - - - - - - - MLID 1 affected/2 unaffected child, at least two miscarriages - NLRP2 1 2 Johan den Dunnen
00457416 Fam4Pat PubMed: Begemann 2018 son M - - - - - - - MLID see paper; ..., 26w-polyhydramnios; birth 41w weight 2955g (9th centile), OFC 35.5cm; 3m-remission, childhood height and weight >99th centile, autistic spectrum disorder, speech delay, language delay; younger brother anxiety preventing school attendance (autistic spectrum disorder) - NLRP2 1 1 Johan den Dunnen
00457417 Fam5 PubMed: Begemann 2018 mother of affected child F - - - - - - - MLID one subsequent healthy child, one miscarriage - NLRP2 2 2 Johan den Dunnen
00457418 Fam5Pat PubMed: Begemann 2018 son M - - - - - - - MLID see paper; ..., intra-uterine growth retardation; birth weight 1.76kg, OFC 35.5cm, length 43.5cm; Silver Russell syndrome (NH-CSS 4/6); bilateral radial anomalies, abnormalities of thumbs, single kidney - NLRP2 2 1 Johan den Dunnen
00457419 Fam6 PubMed: Begemann 2018 mother of affected child F - - - - - - - MLID see paper; ..., two early abortions (gw4 and gw 4), 1 induced abortion (gw 19) - NLRP7 2 3 Johan den Dunnen
00457420 Fam7 PubMed: Begemann 2018 mother of affected child F - - - - - - - MLID see paper; ... - NLRP7 2 2 Johan den Dunnen
00457421 Fam8 PubMed: Begemann 2018 mother of affected child F - - - - - - - MLID see paper; ..., 2 healthy children - NLRP7 1 2 Johan den Dunnen
00457422 Fam9 PubMed: Begemann 2018 mother of affected child; no DNA child F - - - - - - - MLID see paper; ..., affected is only chaild - PADI6 2 2 Johan den Dunnen
00457423 Fam10 PubMed: Begemann 2018 mother of affected child F - - - - - - - MLID see paper; ..., affected is only chaild - PADI6 2 2 Johan den Dunnen
00457424 Fam11 PubMed: Begemann 2018 mother of affected child F - - - - - - - MLID see paper; ..., 2 healthy children - PADI6 1 2 Johan den Dunnen
00457425 Fam12 PubMed: Begemann 2018 mother of affected child F - - - - - - - MLID see paper; ..., affected is only chaild - PADI6 1 2 Johan den Dunnen
00457426 Fam13 PubMed: Begemann 2018 mother of affected child F - - - - - - - MLID see paper; ... - OOEP 1 2 Johan den Dunnen
00457427 Fam14 PubMed: Begemann 2018 mother of affected child F - - - - - - - MLID see paper; ..., proband is one of discordant monozygotic twin pair - UHRF1 1 2 Johan den Dunnen
00457428 Fam15 PubMed: Begemann 2018 mother of affected child F - - - - - - - MLID see paper; ..., 2 healthy siblings, one miscarriage - ZAR1 1 2 Johan den Dunnen
00457429 Fam6sister PubMed: Begemann 2018 sister - - - - - - - - MLID see paper; ..., 1 healthy child (born 26w), 3 early abortions (gw 4, gw 6, gw 7), one ongoing pregnancy (ultrasound normal) - NLRP7 2 2 Johan den Dunnen
00457430 Fam6Pat PubMed: Begemann 2018 fetus - - - - - - - - MLID see paper; ..., 19w-induced, flat face, retrognathia, omphalocele, shortened humeri, mesenchymal placenta - NLRP7 1 1 Johan den Dunnen
00457431 Fam7Pat PubMed: Begemann 2018 daughter F - - - - - - - MLID see paper; ..., 36w-birth, weight 91st centile; exomphalos, macroglossia, neonatal diabetes, feeding difficulties in infancy, motor/speech delay, duplex kidneys, hemihypertrophy, scoliosis - NLRP7 1 1 Johan den Dunnen
00457432 Fam8Pat PubMed: Begemann 2018 son M - - - - - - - MLID see paper; ..., Silver Russell syndrome (NH-CSS 5/6) - NLRP7 1 1 Johan den Dunnen
00457433 Fam9Pat PubMed: Begemann 2018 daughter F - - - - - - - MLID see paper; ..., 39w-birth, weight 2nd centile, OFC normal; micrognathia, hypotonia, feeding difficulties in infancy; childhood facial asymmetry, regrognathia, broad fleshy nasal tip, height 10th-25th centile, weight 90th centile - - - 1 Johan den Dunnen
00457434 Fam10Pat PubMed: Begemann 2018 son M - - - - - - - MLID see paper; ..., 39w-birth weight 90th-97th centile; macrosomia, macroglossia, asymmetry, naevus flammeus, ear creases, developmental delay - PADI6 1 1 Johan den Dunnen
00457435 Fam11Pat PubMed: Begemann 2018 son M - - - - - - - MLID see paper; ..., pre- and postnatal growth restriction and asymmetry; referred Silver Russell syndrome (NH-CSS negative 3/6), no relative macrocephaly, no feeding difficulties, no protruding forehead; developmental delay - PADI6 1 1 Johan den Dunnen
00457436 Fam12Pat PubMed: Begemann 2018 son M - Germany - - - - - MLID see paper; ..., birth at term; Silver Russell syndrome (NH-CSS 4/6): no feeding difficulties, no asymmetry - PADI6 1 1 Johan den Dunnen
00457437 Fam13Pat PubMed: Begemann 2018 son M - - - - - - - MLID see paper; ..., 40w-birth weight2100g (<0.4th centile0; 1-3.5m-hyperglycaemia, pelvic renal dilatation, developmental delay - OOEP 1 1 Johan den Dunnen
00457438 Fam14Pat PubMed: Begemann 2018 daughter F - - - - - - - MLID see paper; ..., 31w-birth; discordant monozygotic twin, Silver Russell syndrome (NH-CSS 5/6); kidney failure in infancy, bilateral renal dysplasia - UHRF1 1 1 Johan den Dunnen
00457439 Fam15Pat PubMed: Begemann 2018 daughter F - - - - - - - MLID see paper; ..., birth weight 4.4kg (>98th centile); mild macroglossia, consistently high weight (>98th centile); 1y-macrosomic - ZAR1 1 1 Johan den Dunnen
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