Disease #00124 (MFDGA;MFDM (dysostosis, mandibulofacial, Guion-Almeida type (MFDGA, mandibulofacial dysostosis with microcephaly (MFDM))), OMIM:610536)

Official abbreviation MFDGA;MFDM
Name dysostosis, mandibulofacial, Guion-Almeida type (MFDGA, mandibulofacial dysostosis with microcephaly (MFDM))
OMIM ID 610536
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 70
Phenotype entries for this disease 46
Associated with 1 gene EFTUD2
Associated tissues -
Disease features -
Remarks -


Individuals

70 entries on 1 page. Showing entries 1 - 70.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00001633 - PubMed: Lines 2012 - M no ? (unknown) - - 0 - - MFDGA;MFDM Paternal age of 35y; Birth head circumference of 30.5/-1.75SD; Malar hypoplasia; Micrognathia; Upslanting of the obliquity of palpebrae; Microtia; Preauricular tag; Conductive hearing loss; Choanal atresia; Need for neonatal resuscitation; Tracheostomy; Global developmental delay; Walking at 28m; Unable to talk at last assessment at 36m; Normal brain MRI; Gastrostomy; Metopic ridge; proximally placed thumb; Cryptorchidism and small scrotum - EFTUD2, HIGD1B 1 1 Dennis E. Bulman
00001634 - PubMed: Lines 2012 - M no ? (unknown) - - 0 - - MFDGA;MFDM Paternal age of 26; Malar hypoplasia; Micrognathia; Downslanting of obliquity of palpebrae; Microtia; Unilateral preauricular tags; Sensorineural hearing loss; Bifid uvula; Need for neonatal resuscitation; Global developmental delay; Metopic ridge; Congenital heart defect(ASD); Proximally placed thumb; Crypotorchidism and small scrotum EFTUD2 EFTUD2 1 1 Johan den Dunnen
00001635 - PubMed: Lines 2012, PubMed: Wieczorek 2009 - F no ? (unknown) - - 0 - - MFDGA;MFDM Malar hypoplasia; Micrognathia; Upslanting of obliquity of palpebrae; Microtia; Unilateral preauricular tags; Bilateral auditory canal atresia/ stenosis; Conductive hearing loss; Bilateral choanal atresia; Need for neonatal resuscitation; Moderate global developmental delay; Walking at 24m; First words at 30m; Mild peripheral pulmonic stenosis; 46,XX; Normal microarray findings EFTUD2 EFTUD2 1 1 Johan den Dunnen
00001636 - PubMed: Lines 2012 - F no ? (unknown) - - 0 - - MFDGA;MFDM IUGR; Malar hypoplasia; Micrognathia; Upslanting of obliquity of palpebrae; Microtia; Unilateral preauricular tags; Unilateral auditory canal atresia/stenosis; Conductive hearing loss; Midline cleft palate; Moderate to severe global developmental delay; Walking at 24-36m; Congenital heart defect(VSD; 46,XX - ADAM11, ASB16, C17orf53, C1QL1, CCDC103, DBF4B, DCAKD, EFTUD2, FAM215A, G6PC3, GFAP, GJC1, HDAC5, HIGD1B, KIF18B, LSM12, NAGS, NMT1, PPY, PYY, TMEM101 3 1 Johan den Dunnen
00001637 - PubMed: Lines 2012, PubMed: Wieczorek 2009 - M no ? (unknown) - - 0 - - MFDGA;MFDM Birth head circumference of 33cm/-2SD; Malar hypoplasia; Micrognathia; Upslanting obliquity of palpebrae; Lower-eyelid cleft; Microtia; Unilateral preauricular tags; Bilateral auditory canal atresia/stenosis; Conductive hearing loss; Midline cleft palate; Bilateral choanal atresia; Mild to moderate global developmental delay; Walking at 16m; Speaking at 24m; Delayed myelination at 15m; Metopic ridge; Congenital heart defect(ASD); Hypoplastic toenails and delayed bone age; Normal microarray fining - EFTUD2 1 1 Dennis E. Bulman
00002418 - PubMed: Lines 2012 - F no ? (unknown) - - 0 - - MFDGA;MFDM Paternal age of 31y;Birth OFC of 32.5cm/-2SD; Malar hypoplasia; Micrognathia; downslanting obliquity of palpebrae; Microtia; Auditory canal atresia or stenosis; conductive hearing loss; bilateral choanal atresia; moderate global developmental delay; walking at 24m; 46,XX; normal microarray finding EFTUD2 EFTUD2 1 1 Dennis E. Bulman
00002419 - PubMed: Lines 2012, PubMed: Guion-Almeida 2006 - M yes ? (unknown) - - 0 - - MFDGA;MFDM paternal age of 25y; full term gestation; Malar hypoplasia; Micrognathia; obliquity of palpebrae; Microtia; preauricula tags; midline cleft palate including submucous; severe global developmental delay; walking at 60m; mdtopic ridge; ASD; duplicated thumb; 46,XY EFTUD2 EFTUD2 1 1 Dennis E. Bulman
00002420 - PubMed: Lines 2012 - M no ? (unknown) - - 0 - - MFDGA;MFDM birth OFC of 33cm/-1SD; malar hypoplasia; micrognathia; level obliquity of palpebrae; lower-eyelid cleft; microtia; unilateral preauricular tags; bilateral auditory canal atresia or stenosis; conductive hearing loss; midline cleft palate including submucous; mild to moderate global developmental delay; walking at 19m; abnormal white matter on FLAIR; ASD; 46,XY; normal microarray findings EFTUD2 EFTUD2 1 1 Dennis E. Bulman
00002421 - PubMed: Lines 2012 - F no ? (unknown) - - 0 - - MFDGA;MFDM polyhydramnios; birth OFC of 31cm/-3.5SD; micrognathia; level obliquity of palpebrae; bilateral lower-eyelid cleft; unilateral auditory canal atresia or stenosis; conductive hearing loss; midline cleft palate including submucous; mild to moderate global developmental delay; ASD; 46,XX EFTUD2 EFTUD2 1 1 Dennis E. Bulman
00002422 - PubMed: Lines 2012 - M no Macau - - 0 - - MFDGA;MFDM increased NT; malar hypoplasia; micrognathia; level obliquity of palpebrae; unilateral preauricular tags; conductive hearing loss; bilateral choanal atresia; moderate global developmental delay; walking at 19m; metopic ridge; proximally placed thumb; 46,XY; normal microarray findings EFTUD2 EFTUD2 1 1 Dennis E. Bulman
00002423 - PubMed: Lines 2012, PubMed: Wieczorek 2009 - F no ? (unknown) - - 0 - - MFDGA;MFDM increased NT and microcephaly; birth OFC of 30cm/-3SD; malar hypoplasia; micrognathia; level obliquity of palpebrae; microtia; bilateral preauricular tags; unilateral auditory canal atresia or stenosis; conductive hearing loss; unilateral choanal atresia; mild global developmental delay; walking at 24m; first words at 20m; normal brain MRI; gastrostomy; proximally placed thumb; myopia; middle ear and vestibular hypoplasia; 46,XX EFTUD2 EFTUD2 1 1 Dennis E. Bulman
00002424 - PubMed: Lines 2012, PubMed: Guion-Almeida 2006 - M no ? (unknown) - - 0 - - MFDGA;MFDM paternal age of 28y; full term gestation; malar hypoplasia; micrognathia; one downslanting obliquity of palpebrae; microtia; preauricular tags; midline cleft palate including submucous; moderate to severe global developmental delay; walking at 17m; first words at 24m; mitopic ridge; 46,XY - EFTUD2 1 1 Dennis E. Bulman
00002426 - PubMed: Reschen 2012; PubMed: White 2010 - M no (United Kingdom (Great Britain)) white - 0 - - MFDGA;MFDM diagnosed with FHS at age of 7y, markely poor growth; expressive language delay; hearing problems; 2.5y bone age delay; prominent nose and ears; 46,XY; attended a normal school but required intensive speech therapy; at 15y, height<-3SD and paucity of speech; stage 2 high blood pressure; history of an episode of macroscopic hematuria and left flank pain; mild left ventricular hypertrophy in echocardiogram; multiple bilateral cysts in his kidneys; creatinine of 87 mmol/L, eGFR of 99ml/min/1.73m2 with the MDRD equation or 106ml/min/1.73m2 with the more accurate CKD-EPI equation. Urinalysis revealed no blood and 30 mg/dl proteinuria; a left posterior cerebral artery with a hypoplastic segment of the precommunicating part of the posterior cerebral artery and co-dominant vertebral arteries SRCAP SRCAP 1 1 Dennis E. Bulman
00002427 - PubMed: Gordon 2012, Journal: Gordon 2012 initial diagnosis Goldenhar syndrome and oesophageal atresia F ? ? (unknown) - - 0 - - MFDGA;MFDM polyhydramnios; birth length of 0/1.5SD; birth head circumference of -0.5/+0.5SD; weight at 8y of +2SD; length at 8y of +2SD; head circumference at 8y of -1SD; facial asymmetry; malar hypoplasia; mandibular hypoplasia; cleft palate; dysplastic external ears; unilateral preauricular tags; unilateral auditory canal atresia/stenosis; mixed hearing loss;hypermetropic astigmatism; moderate delayed psycho/motor develoment; oesophageal atresia; laryngeal diastema and asymptomatic bilateral vesico-ureteral reflux; EFTUD2 EFTUD2 1 1 Dennis E. Bulman
00002428 - PubMed: Gordon 2012, Journal: Gordon 2012 initial diagnosis of VATER M ? France - - 0 - - MFDGA;MFDM pre-eclampsia; polyhydramnios; birth head circumference of -1SD; weight at 5m of -3SD; head circumference at 5m of -3SD; facial asymmetry; malar hypoplasia; mandibular hypoplasia; dysplastic cup-shaped external ears; unilateral preauricular tags; conductive hearing loss; moderate delayed psycho/motor development; patent ductus arteriosus; oesophageal atresia; unilateral pelvic kidney; 46,XY EFTUD2 EFTUD2 1 1 Dennis E. Bulman
00002429 - PubMed: Gordon 2012, Journal: Gordon 2012 initial diagnosis of oculoauriculovertebral spectrum and oesophageal atresia ? ? France - - 0 - - MFDGA;MFDM hydramnios; birth head circumference of +0.5SD; weight at 13m of -2.5SD; height at 13m of -2.5SD; head circumference of -4SD; facial asymmetry; mandibular hypoplasia; dysplastic low-set ears; unilateral preauricular tags; conductive hearing loss; moderate delayed psycho/motor development; ASD; oesophageal atresia; normal karyotype EFTUD2 EFTUD2 1 1 Dennis E. Bulman
00002430 - PubMed: Gordon 2012, Journal: Gordon 2012, PubMed: de Pontual 2011 initial diagnosis of Feingold syndrome F ? France - - 0 - - MFDGA;MFDM IUGR; adult weight of 0SD; adult height of 0SD; adult head circumference of -2SD; facial asymmetry; mandibular hypoplasia; asymmetric dysplasia of external ears; moderate delayed psycho/motor development; 2/3 toe syndactyly; thenar hypoplasia; oesophageal atrisia type C; normal array-CGH (Agilent 105K); normal sequence of MYCN and MIR17HG genes EFTUD2 EFTUD2 1 1 Dennis E. Bulman
00002433 - PubMed: Gordon 2012, Journal: Gordon 2012 initial diagnosis of Feingold syndrome ? ? France - 12y 0 - - MFDGA;MFDM birth height<-2SD; birth head circumference of -3SD; weight at 10y of -2SD; height at 10y of -1SD; head circimference at 10y of -4SD; malar hypoplasia; mandibular hypoplasia; dysplastic ears; auditory canal atresia/stenosis; mixed hearing loss; mild delayed psycho/motor development; oesophageal atresia type C; cryptochidism; lacrymal duct stenosis; EFTUD2 EFTUD2 1 1 Dennis E. Bulman
00002434 - PubMed: Gordon 2012, Journal: Gordon 2012 initial diagnosis of CHARGE snydrome M ? France - - 0 - - CHARGE, MFDGA;MFDM polyhydramnios; birth length of -1SD; birth head circumference<-2; weight at 8y of +1SD; height at 8y of +1SD; head circimference at 8y<-4SD; mild malr hypoplasia; mild mandibular hypoplasia; cleft palate(submucous); dysplastic external ears; conductive hearing loss; epicanthic folds; mild delayed psycho/motor development; oesophageal atresia type C; unilateral lateral semicircular canal agenesis; CHD7, EFTUD2 EFTUD2 1 1 Dennis E. Bulman
00002436 - PubMed: Gordon 2012, Journal: Gordon 2012 initial diagnosis of CHARGE syndrome ? ? France - - 0 - - CHARGE, MFDGA;MFDM polyhydramnios; birth height of 0SD; birth head circumference of -2SD; weight at 4y of +1SD; height at 4y of 0SD; head circumference at 4y of -4SD; facial asymmetry; mandibular hypoplasia; dysplastic external ears; bilateral auditory canal atresia/stenosis; sensorineural hearing loss; moderate delayed psycho/motor development; oesophageal atresia; lateral semicircular canal agenesis EFTUD2 EFTUD2 1 1 Dennis E. Bulman
00002437 - PubMed: Gordon 2012, Journal: Gordon 2012 initial diagnosis of CHARGE syndrome ? ? France - - 0 - - CHARGE, MFDGA;MFDM IUGR; weight at 11y of +1SD; height at 11y of +3SD; head circumference at 11y<-4SD; facial asymmetry; malar hypoplasia; mandibular hypoplasia; dysplastic external ears; auditory canal stresia/stenosis; moderate delayed psycho/motor development; ASD; genital anomalies; tooth agenesis CHD7, EFTUD2 EFTUD2 1 1 Dennis E. Bulman
00002439 - PubMed: Gordon 2012, Journal: Gordon 2012 initial diagnosis of CHARGE syndrome ? ? France - - 0 - - CHARGE, MFDGA;MFDM birth height of -2SD; birth head circumference of -3SD; weight at 7y of +1SD; height at 7y of -1.5SD; head circumference at 7y of -2SD; malar hypoplasia; mandibular hypoplasia; microtia; unilateral auditory canal atresia/stenosis; sensorineural hearing loss; strabismus; moderate delayed psycho/motor development; pectus carinatum CHD7, EFTUD2 EFTUD2 1 1 Dennis E. Bulman
00002442 - PubMed: Gordon 2012, Journal: Gordon 2012 initial diagnosis of CHARGE syndrome F ? France - - 0 - - CHARGE, MFDGA;MFDM termination of pregnancy at 29.5w; weight of -1SD; head circumference of -1.5SD; malar hypoplasia; mandibular hypoplasia; dysplastic external ears; oesophageal atresia type C; delayed gyration and retro thyoid thymic residues CHD7, EFTUD2 EFTUD2 1 1 Dennis E. Bulman
00002443 - PubMed: Gordon 2012, Journal: Gordon 2012 initial diagnosis of Feingold syndrome F ? France - - 0 - - MFDGA;MFDM birth height of 0/-1.5SD; adult weight of 0SD; adult height of -1SD; adult head circumference<-2SD; dysplastic external ears; unilateral preauricular tags; unilateral auditory canal atresia/stenosis; mixed hearing loss; milder delayed psycho/motor development; brachydactyly; abnormal semicircular canal EFTUD2 EFTUD2 1 1 Dennis E. Bulman
00002452 - PubMed: Gordon 2012, Journal: Gordon 2012 initial diagnosis of CHARGE syndrome ? ? France - - 0 - - CHARGE, MFDGA;MFDM polyhydramnios; IUGR; birth head circumference of 0SD; weight at 2.5y of +0.5SD; height at 2.5y of +1SD; head circumference at 2.5y of +1SD; cayler facial asymmetry; unilateral microtia; unilateral auditory canal atresia/stenosis; unilateral hearing loss; ASD; VSD; unilateral thumb hypoplasia; oesophageal atresia type C; abnormal ossicles and semicircular canals; agenesis of first cervical vertebrae; kyphoscoliosis and sacral dimple CHD7, EFTUD2 EFTUD2 1 1 Dennis E. Bulman
00002456 - PubMed: Luquetti 2012 - M ? ? (unknown) - - 0 - - MFDGA;MFDM OFC of 51.8cm/-1SD; height of 137.6/-1SD; facial asymmetry; choanal atresia; left epibulbar dermoid; unilateral cleft of zygomatic arch; bilateral microtia (grade 3); bilateral preauricular skin tags; atretic external auditory canal; conductive hearing loss; normal inner ear; hypoplastic/dysplastic ossicles; mandibular hypoplasia; malar hypoplasia; micrognathia (asymmertric); bifid uvula; proximally placed thumb; normal cervical spine; cooperative personality; answer questions appropriately; no unusual behaviors; mild developmental delay EFTUD2 EFTUD2 1 1 Dennis E. Bulman
00002602 - PubMed: Voigt 2013; PubMed: Wieczorek 2013 - F no (Germany) - - 0 - - MFDGA;MFDM polyhydramnios; birth height 51cm/-0.8SD; birth OFC 34cm/-0.6SD; height at 21y 158cm/-1.5SD; weight at 21y 63kg/0.5SD; OFC at 21y 51cm/-3.7SD; ID with IQ 75; walking at 16m; first word at 16m; upslanting palpebral fissures; microtia with squared earlobe; bilateral conductive hearing loss; reduced mouth opening; micrognathia; esophageal atresia; ASD; scoliosis; bilateral cleft of zygomatic bone; clinodactyly V - EFTUD2 1 1 Dennis E. Bulman
00002603 - PubMed: Voigt et al 2013; PubMed: Wieczorek D et al 2007 brother of individual #00002602 M no (Germany) - - 0 - - MFDGA;MFDM polyhydramnios; weight at 8y7m 25kg/-2.4SD; height at 8y7m 128cm/-2.4SD; OFC at 8y7m 46cm/-5.9SD; severe ID; walking at 39m; microtia with squared earlobe; aplasia/hypoplasia of external ear canal; bilateral combined hearing loss; cleft palate; reduced mouth opening; micrognathia; tracheostomy; esophageal atresia; VSD; bilateral cleft of zygomatic bone - EFTUD2 1 1 Dennis E. Bulman
00002604 - PubMed: Voigt 2013; PubMed: Wieczorek et al.2007 mother of individual #00002602 and #00002603 F no (Germany) - - 0 - - MFDGA;MFDM height at adulthood 165cm/-0.2SD; weight at adulthood 58kg/-1.0SD; OFC at adulthood 53.5cm/-1.0SD; facial asymmetry; nasal speech; reduced mouth opening; unilateral cleft of zygomatic bone EFTUD2 EFTUD2 1 1 Dennis E. Bulman
00002606 - PubMed: Voigt 2013; PubMed: Megarbane et al.2005 - M yes (Germany) - - 0 - - MFDGA;MFDM polyhydramnios;birth height 48cm/-1.7SD; birth OFC 32cm/-2.2SD; Height at 8y 114.5cm/-2.6SD; weight at 8y21kg/-1.6SD; OFC at 8y 46cm/-5.5SD; mild ID; walking at 30m; first words at 36m; hyperplastic supraorbital ridges; frontal bossing upslanting palpebral fissures; microtia with squared earlobe; hypoplasia of external ear canal; bilateral conductive hearing loss; esophageal atresia; small middle ear cavity; abnormal malleolus - EFTUD2 1 1 Dennis E. Bulman
00002607 - PubMed: Voigt 2013, PubMed: Megarbane et al.2005 sister of individual #00002606 F yes (Germany) - - 0 - - MFDGA;MFDM polyhydramnios; height at 2.5y 84.5cm/-1.91SD; weight at 2.5y 11kg/-1.3SD; OFC at 2.5y 43.4cm/-5.3SD; mild ID; walking at 24m; first words at 30m; hyperplastic supraorbital ridges; frontal bossing; upslanting palpebral fissures; microtia with squared earlobe; cleft palate; micrognathia; absence of middle ear pneum; hypoplasia of malleus and incus - EFTUD2 1 1 Dennis E. Bulman
00002621 - PubMed: Voigt et al 2013 - M no (Germany) - - 0 - - MFDGA;MFDM polyhydramnios; birth height 52cm/-0.2SD; birth OFC 34cm/-1.2SD; height at 7y4m 126cm/0.1SD; weight at 7y4m 22.5kg/-0.6SD; OFC at 7y4m 47.5cm/-3.9SD; moderate ID; walking at 21m; words at 30m; upslanting palpebral ridges; microtia with squared earlobe; narrow external ear canal; cleft palate; micrognathia; esophageal atresia; VSD; bilateral cleft of zygomatic bone; - EFTUD2 1 1 Dennis E. Bulman
00002622 - PubMed: Voigt 2013 - M - (Germany) - - 0 - - MFDGA;MFDM birth height 49cm/-0.5SD; birth OFC 34cm/-0.4cm; height at 3.5y 98cm/0SD; weight at 3.5y 14.6kg/-0.2SD; 45cm/-3.3SD; moderate ID; walking at 36m; first words at 24m; hyperplastic supraorbital ridges; sloping forehead; microtia with squared earlobe; preauricular tag; preauricular pit; hypoplasia of external ear canal; hearing loss; reduced mouth opening; micrognathia; slightly proximal placed thumbs EFTUD2 EFTUD2 1 1 Dennis E. Bulman
00002629 - PubMed: Voigt 2013 - F no (Germany) - - 0 - - MFDGA;MFDM polyhydramnios; birth OFC 32.3cm/-1SD; height at 4.5y 100.7cm/-1.6SD; weight at 4.5y 18.2kg/1SD; OFC at 4.5y 46.6cm/-3.3SD; mild ID; walking at 18m; first words at 12m; mild facial asymmetry; down slanting palpebral fissures; microtia with squared earlobe; hypoplasia of exteral ear canal; conductive hearing loss; reduced mouth opening; micrognathia; tracheostomy; esophageal atresia; small middle ear cavity; normal cochlea and semicircular canals; 46,XX; normal FISH 22q; normal SNP array EFTUD2, TCOF1 EFTUD2 1 1 Dennis E. Bulman
00004131 - Lehalle et al 2014 - - - - - - 0 - - MFDGA;MFDM - EFTUD2 EFTUD2 1 1 Christopher Gordon
00004132 - Lehalle et al 2014 - - - - - - 0 - - MFDGA;MFDM - EFTUD2 EFTUD2 1 1 Christopher Gordon
00004133 - Lehalle et al 2014 - - - - - - 0 - - MFDGA;MFDM - EFTUD2 EFTUD2 1 1 Christopher Gordon
00004134 - Lehalle et al 2014 - - - - - - 0 - - MFDGA;MFDM - EFTUD2 EFTUD2 1 1 Christopher Gordon
00004135 - Lehalle et al 2014 - - - - - - 0 - - MFDGA;MFDM - EFTUD2 EFTUD2 1 1 Christopher Gordon
00004136 - Lehalle et al 2014 - - - - - - 0 - - MFDGA;MFDM - EFTUD2 EFTUD2 1 1 Christopher Gordon
00004137 - Lehalle et al 2014 - - - - - - 0 - - MFDGA;MFDM - EFTUD2 EFTUD2 1 1 Christopher Gordon
00004138 - Lehalle et al 2014 - - - - - - 0 - - MFDGA;MFDM - EFTUD2 EFTUD2 1 1 Christopher Gordon
00004139 - Lehalle et al 2014 - - - - - - 0 - - MFDGA;MFDM - EFTUD2 EFTUD2 1 1 Christopher Gordon
00004140 - Lehalle et al 2014 - - - - - - 0 - - MFDGA;MFDM - EFTUD2 EFTUD2 1 1 Christopher Gordon
00004141 - Lehalle et al 2014 - - - - - - 0 - - MFDGA;MFDM - EFTUD2 EFTUD2 1 1 Christopher Gordon
00004142 - Lehalle et al 2014 - - - - - - 0 - - MFDGA;MFDM - EFTUD2 EFTUD2 1 1 Christopher Gordon
00004143 - Lehalle et al 2014 - - - - - - 0 - - MFDGA;MFDM - EFTUD2 EFTUD2 1 1 Christopher Gordon
00004144 - Lehalle et al 2014 - - - - - - 0 - - MFDGA;MFDM - EFTUD2 EFTUD2 1 1 Christopher Gordon
00004145 - Lehalle et al 2014 - - - - - - 0 - - MFDGA;MFDM - EFTUD2 EFTUD2 1 1 Christopher Gordon
00004146 - Lehalle et al 2014 - - - - - - 0 - - MFDGA;MFDM - EFTUD2 EFTUD2 1 1 Christopher Gordon
00004147 - Lehalle et al 2014 - - - - - - 0 - - MFDGA;MFDM - EFTUD2 EFTUD2 1 1 Christopher Gordon
00004148 - Lehalle et al 2014 EFTUD2 variant inherited from affected mother - - - - - 0 - - MFDGA;MFDM - EFTUD2 EFTUD2 1 1 Christopher Gordon
00004149 - Lehalle et al 2014 Mother of case 27 in Lehalle et al 2014 - - - - - 0 - - MFDGA;MFDM - EFTUD2 EFTUD2 1 1 Christopher Gordon
00004150 - Lehalle et al 2014 - - - - - - 0 - - MFDGA;MFDM - EFTUD2 EFTUD2 1 1 Christopher Gordon
00004151 - Lehalle et al 2014 - - - - - - 0 - - MFDGA;MFDM - EFTUD2 EFTUD2 1 1 Christopher Gordon
00004152 - Lehalle et al 2014 - - - - - - 0 - - MFDGA;MFDM - EFTUD2 EFTUD2 1 1 Christopher Gordon
00004153 - Lehalle et al 2014 - - - - - - 0 - - MFDGA;MFDM - EFTUD2 EFTUD2 1 1 Christopher Gordon
00004154 - Lehalle et al 2014 EFTUD2 variant inherited from affected mother (= "Mother of case 11" in Gordon et al 2012). - - - - - 0 - - MFDGA;MFDM - EFTUD2 EFTUD2 1 1 Christopher Gordon
00011460 - PubMed: Need 2012 - M ? India - - 0 - - MFDGA;MFDM Developmental delay, possible autism, microcephaly, dysmorphic features, spine abnormalities, sensorineural hearing loss EFTUD2 EFTUD2 1 1 Dennis E. Bulman
00011461 - PubMed: Need 2012 - M ? - European-American - 0 - - MFDGA;MFDM microcephaly, facial asymmetry, acyanotic tetralogy of Fallot, history of small muscular ventricular septal defect, right aortic arch with mirror image branching, malformed right ear with hearing loss, bifid uvula, cleft soft palate EFTUD2 EFTUD2 1 1 Dennis E. Bulman
00046331 - PubMed: Gandoni 2015, Journal: Gandoni 2015 female dizygotic twin neonate F ? United States - - 0 - - MFDGA;MFDM see paper; born 36w gestation, intrauter- ine growth retardation, ... EFTUD2 EFTUD2 1 1 Dennis E. Bulman
00104572 - - - M no Czech Republic white - 0 - - MFDGA;MFDM intellectual disability, speech delay, growth retardation, epilepsy, hypotonia, shorter fifth digits on hands, facial dysmorphism EFTUD2 EFTUD2 1 1 Jana Paderova
00289358 - - - M no Korea, South (Republic) - - 0 - - MFDGA;MFDM - EFTUD2 EFTUD2 1 1 So Young Kim
00295671 T143I Journal: Thomas 2020 male patient M ? - - - 0 - - MFDGA;MFDM born with normal birth parameters, uneventful pregnancy; micrognathia, anteverted ears, bulbous nasal tip, epicanthus; feeding difficulties, developed rapidly progressive postnatal microcephaly; 12m-head circumference -4 SD, premature closure metopic ridge; walk-21m, language delayed, attended school with special needs; normal hearing, MRI brain normal EFTUD2 EFTUD2 1 1 Huw Thomas
00295672 G207E Journal: Thomas 2020 - M no - European - 0 - - MFDGA;MFDM - EFTUD2 EFTUD2 1 1 Huw Thomas
00295673 N286S Journal: Thomas 2020 - M - - - - 0 - - MFDGA;MFDM - EFTUD2 EFTUD2 1 1 Huw Thomas
00295675 Q383H Journal: Thomas 2020 - M yes - African - 0 - - MFDGA;MFDM - EFTUD2 EFTUD2 1 1 Huw Thomas
00295676 P778S Journal: Thomas 2020 - F - - - - 0 - - MFDGA;MFDM - EFTUD2 EFTUD2 1 1 Huw Thomas
00303257 UTH_1 Not published Maternal uncle to proband with T21. Otherwise, non-contributory family history; EFTUD2 Related Disorders (Mandibulofacial dysostosis with microcephaly) F no United States Maternal (Mexico) Paternal (Honduras) 00y04m 0 yes Early Childhood Intervention MFDGA;MFDM Hypoplasia of the maxilla (HP:0000327) Feeding difficulties HP:0011968 Preauricular skin tag HP:0000384 Mandibulofacial dysostosis HP:0005321 Postnatal microcephaly HP:0005484 Cleft palate HP:0000175 Hypertelorism HP:0000316 Facial Hemangioma: HP:0000329 Microretrognathia- HP:0000308 Underdeveloped Supraorbital ridges HP:0009891 Sloping forehead HP:0000340 Facial Asymmetry HP: 0000324 Clinodactyly of the 5th toe (B/L) HP0001864 Overlapping toes (B/L): HP:0001845 Cup, Simplified Ear (R only) HP:0000378 - EFTUD2 1 1 Kate Mowrey
00306214 115 - - F - China - - 0 - - MFDGA;MFDM - EFTUD2 EFTUD2 1 1 Sha Hong
Legend   How to query  

  Powered by LOVD v.3.0 Build 27
LOVD software ©2004-2022 Leiden University Medical Center 		There are currently no updates.