Disease #00010 (MCLMR (microcephaly with/without chorioretinopathy, lymphedema, or mental retardation (MCLMR)), OMIM:152950)

Official abbreviation MCLMR
Name microcephaly with/without chorioretinopathy, lymphedema, or mental retardation (MCLMR)
OMIM ID 152950
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 85
Phenotype entries for this disease 60
Associated with 1 gene KIF11
Associated tissues -
Disease features -
Remarks -
Date created 2012-06-29 16:51:23 +02:00 (CEST)
Date last edited 2020-02-10 09:10:25 +01:00 (CET)


Individuals

85 entries on 1 page. Showing entries 1 - 85.
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00001198 - PubMed: Ostergaard 2012 - F no (United Kingdom (Great Britain)) - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00001199 - PubMed: Ostergaard 2012 - F no (United Kingdom (Great Britain)) - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00001200 - PubMed: Ostergaard 2012 - F no (United Kingdom (Great Britain)) - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00001201 - PubMed: Ostergaard 2012 - M no (United Kingdom (Great Britain)) - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00001202 - PubMed: Vasudevan 2005 - M no (United Kingdom (Great Britain)) - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00001203 - PubMed: Ostergaard 2012 - M no (United Kingdom (Great Britain)) - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00001204 - PubMed: Ostergaard 2012 - M no (United Kingdom (Great Britain)) - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00001205 - PubMed: Ostergaard 2012 - M no (United Kingdom (Great Britain)) - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00001207 - PubMed: Ostergaard 2012 - M no (United Kingdom (Great Britain)) - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00001208 - PubMed: Ostergaard 2012 - M no (United Kingdom (Great Britain)) - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00001209 - PubMed: Ostergaard 2012 - F no (United Kingdom (Great Britain)) - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00001211 - PubMed: Ostergaard 2012 - M no (United Kingdom (Great Britain)) - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00001212 - PubMed: Ostergaard 2012 - F no (United Kingdom (Great Britain)) - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00001213 - PubMed: Hazan 2012 - M yes Turkey - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00001503 Pat2 PubMed: Santen 2013 - M - - - - - - - CAAHD, CSS, EPM1A, IVA, JBS, JBTS1, JBTS13, KTZS, LCCS1, MCLMR, MDDGC5;LGMDR9;LGMD2I, PSORS, USH3B brith a term, weight SD 0.5; inguinal hernia bilateral, 3 hypomelanitic maculae.; no hypotonia; birth feeding problems; eczema (HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); delayed growth (HP:00001510); moderate speech delay (HP:0000750); moderate intellectual disability; normal scalp hair (-HP:0100037); normal eyebrow (-HP:0000534); normal eylashes (-HP:0000499); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); abnormal lacrimal duct (HP:0011481); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), no anteverted nares (-HP:0000463); short philtrum (HP:0000322); wide mouth (HP:0000154); cleft palate (HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); pectus excavatum (HP:0000767); no dislocated elbows (-HP:0003042); brachydactyly (HP:000156); small nails 5th only;; ;; inguinal hernia; ventricular septal defect; no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); inguinal hernia (HP:0000023); ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1 ARID1B, SMARCA2, SMARCA4, SMARCB1 15 1 Gijs Santen
00002593 - Family II in PubMed: Jones et al 2014 - M no (United Kingdom (Great Britain)) - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00002594 - Family III in PubMed: Jones et al 2014 - F no (United Kingdom (Great Britain)) - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00002595 - Family IV in PubMed: Jones et al 2014 - M no (United Kingdom (Great Britain)) - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00002596 - Family IX in PubMed: Jones et al 2014 - M no (United Kingdom (Great Britain)) - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00002597 - Family X in PubMed: Jones et al 2014 - M no (United Kingdom (Great Britain)) - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00002598 - Family XII in PubMed: Jones et al 2014 - M no (United Kingdom (Great Britain)) - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00002599 - Family XV in PubMed: Jones et al 2014 - F no (United Kingdom (Great Britain)) - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00002600 - Family XVIII in PubMed: Jones et al 2014 - F no (United Kingdom (Great Britain)) - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00002601 - Family XX in PubMed: Jones et al 2014 - M no (United Kingdom (Great Britain)) - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00019597 - - - ? no Spain - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00019598 - - - ? ? Spain - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00019599 - - - F ? Spain - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00019600 - - - F ? Turkey - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00019601 - - - M ? United Kingdom (Great Britain) - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00045114 - - - M no (United Kingdom (Great Britain)) - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00045115 - - - M no (United Kingdom (Great Britain)) Chinese - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00045116 - - - F no (United Kingdom (Great Britain)) - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00045117 - - - F no (United Kingdom (Great Britain)) - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00045118 - - - M no (United Kingdom (Great Britain)) - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00045119 - - - F no (United Kingdom (Great Britain)) - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00045120 - - - M no (United Kingdom (Great Britain)) - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00045121 - - - M no (United Kingdom (Great Britain)) - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00045122 - - - ? ? (United Kingdom (Great Britain)) - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00045123 - - - ? ? (United Kingdom (Great Britain)) - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00045124 - - - F no (United Kingdom (Great Britain)) - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00045125 - - - M no (United Kingdom (Great Britain)) - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00045126 - - - ? ? (United Kingdom (Great Britain)) - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00045127 - - - M no (United Kingdom (Great Britain)) - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00045128 - - - M ? (United Kingdom (Great Britain)) - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00045129 - - - M no (United Kingdom (Great Britain)) - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00045130 - PubMed: Gunes 2018 - M no Turkey - - - - - MCLMR 3m-prediagnosis of retinoblastoma - right eye enucleated and fitted with a prosthetic eye; right eye revealed diffuse retinal detachment and subretinal hemorrhage; 1y: atypical facial appearance; birth weight, length, and head circumference: 3,230 g (-0.5 SD), 50 cm (-0.06 SD), and 30.1 cm (-2.5 SD), respectively; postnatal echocardiography: perimembranous ventricular septal defect; bilateral edema of the dorsum of the feet - lymphoscintigraphy: no evidence of tracer uptake in the inguinal lymph nodes or lymphatic tracts confirming the primary lymphedema, characteristic of the functional aplasia typically observed in MCLMR; presented with microcephaly (occipital-frontal head circumference (OFC): 38 cm, -6.7 SD), prominent ears, upslanting palpebral fissures, a broad nose with a rounded tip, anteverted nares, long philtrum with a thin upper lip, a high-arched palate, microretrognathia, and congenital lymphedema of the feet; achieved head control, sitting, and walking at 2, 8, and 12 months, respectively; complete blood count, calcium metabolism, thyroid functions, immunoglobulins and T-lymphocyte subsets: normal; echocardiography: detected spontaneous closure of the ventricular septal defect; venous Doppler: no venous insufficiency in the lower extremities; cranial magnetic resonance imaging: microcephaly without any structural abnormalities; fundoscopy, left eye: pale optic disc and lacunar chorioretinal atrophy; electroretinography: generalized rod-cone dysfunction; hearing test: normal; 6y: developmental quotient of Denver II Developmental Test: 60; hyperactive behavior and attention problems, but he could speak fluently in long sentences by the age of 6; followed up regularly, during that time growth parameters (height and weight) normal; 8y: his weight and length were 20 kg (-1.89 SD) and 122 cm (-1.04 SD), respectively; OFC 45 cm (-5.3 SD); left fundus findings unchanged; low visual acuity: counting fingers from 2 meters; optical coherence tomography: severe retinal thinning; bilateral lymphedema remained more pronounced on the right foot KIF11 KIF11 2 1 Pia Ostergaard
00045131 - - - M no (United Kingdom (Great Britain)) - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00045132 - - - F no (United Kingdom (Great Britain)) - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00047821 - PubMed: Mirzaa et al 2014 - F no (United States) mixed European - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00047847 - PubMed: Mirzaa et al 2014 - M no (United States) white - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00047849 - PubMed: Mirzaa et al 2014 - M no (United States) white - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00047850 - PubMed: Mirzaa et al 2014 - F no (United States) white - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00047851 - PubMed: Mirzaa et al 2014 - M no (United States) white - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00057249 - PubMed: Rump 2016 - M - - - - - - - MCLMR Microcephaly HP:0000252 - KIF11 1 1 Birgit Sikkema-Raddatz
00063603 - PubMed: Ibn-Salem 2014 - - - - - - - - - MCLMR - PTCH1 PTCH1 1 1 Michel van Geel
00063624 - PubMed: Derwinska 2009 - - - - - - - - - MCLMR - PTCH1 PTCH1 1 1 Michel van Geel
00164217 25934493-PatI10 PubMed: Schlogel 2015 - - - Belgium - - - - - MCLMR - KIF11 KIF11 1 1 Pascal Brouillard
00164218 25934493-PatII1 PubMed: Schlogel 2015 - - - Belgium - - - - - MCLMR - KIF11 KIF11 1 1 Pascal Brouillard
00164219 25934493-PatIII10 PubMed: Schlogel 2015 - - - Belgium - - - - - MCLMR - KIF11 KIF11 1 1 Pascal Brouillard
00164220 25934493-PatIV10 PubMed: Schlogel 2015 - - - Belgium - - - - - MCLMR - KIF11 KIF11 1 1 Pascal Brouillard
00164221 25934493-PatVII10 PubMed: Schlogel 2015 - - - Belgium - - - - - MCLMR - KIF11 KIF11 1 1 Pascal Brouillard
00164222 25934493-PatVIII10 PubMed: Schlogel 2015 - - - Belgium - - - - - MCLMR - KIF11 KIF11 1 1 Pascal Brouillard
00164223 25934493-PatIX10 PubMed: Schlogel 2015 - - - Belgium - - - - - MCLMR - KIF11 KIF11 1 1 Pascal Brouillard
00164225 22284827-? PubMed: Ostergaard 2012 - - - - - - - - - MCLMR - KIF11 KIF11 1 1 Pia Ostergaard
00164226 22284827-? PubMed: Ostergaard 2012 - - - Belgium - - - - - MCLMR - KIF11 KIF11 1 1 Pascal Brouillard
00164227 25934493-PatXII10 PubMed: Schlogel 2015 - - - Belgium - - - - - MCLMR - KIF11 KIF11 1 1 Pascal Brouillard
00164228 25934493-PatXIII10 PubMed: Schlogel 2015 - - - Belgium - - - - - MCLMR - KIF11 KIF11 1 1 Pascal Brouillard
00164229 25934493-PatXIV10 PubMed: Schlogel 2015 - - - Belgium - - - - - MCLMR - KIF11 KIF11 1 1 Pascal Brouillard
00164230 25934493-PatIV1 PubMed: Schlogel 2015 - - - Belgium - - - - - MCLMR - KIF11 KIF11 1 1 Pascal Brouillard
00164231 25934493-PatV1 PubMed: Schlogel 2015 - - - Belgium - - - - - MCLMR - KIF11 KIF11 1 1 Pascal Brouillard
00286159 Patient 1 PubMed: Li 2016 isolated M ? China - - - - - EVR;FEVR, MCLMR Stage 4 FEVR (HP: 0030490), chorioretinopathy (HP:0000532), microcephaly (HP:0000252) - KIF11 1 1 Jasmine Chen
00305891 5 - - F - China - - - - - MCLMR - KIF11 KIF11 1 1 Sha Hong
00407969 194408 - - F ? Kazakhstan - - - - - MCLMR Secondary microcephaly, Constipation, Respiratory tract infection, Intention tremor KIF11 KIF11 1 1 Andreas Laner
00416624 ? PubMed: Mears 2015 - M - - - - - - - MCLMR learning disability, first noted at age 3 years, and a family history of a learning disability in mother and maternal grandfather; medical records - 2d: head circumference in the fifth percentile and pedal edema; 9y: microcephaly, intellectual disability, and dysmorphic features; best-corrected visual acuity right, left eye: 20/80, 20/40; low hyperopia; extraocular motility, pupils, and anterior segments: normal; fundus: optic disc pallor and gliosis, atrophic chorioretinal lesions inferior to the optic discs and smaller scattered areas of chorioretinal atrophy temporally; retinal angiography and optical coherence tomography: loss of the photoreceptor layers temporally and inferiorly, corresponding to the areas of chorioretinal atrophy visible by ophthalmoscopy, pedal lymphedema KIF11 KIF11 1 1 LOVD
00416626 P1 PubMed: Balikova 2016 - F - - - - - - - MCLMR best corrected visual acuity right, left eye: 0.12,0.2; refraction right, left eye: +2/ -3 x 165 deg, +3.75/ -3.25 x 10 deg; ocular fundus: lacunae of chorioretinal atrophy, macular pigmentary changes; electrodiagnostic testing: generalized loss of rod function with evidence of inner retinal cone on-system involvement both eyes. pattern electroretinogram evidence of macular dysfunction, worse on the right KIF11 KIF11 1 1 LOVD
00416627 P2 PubMed: Balikova 2016 - F - - - - - - - MCLMR best corrected visual acuity right, left eye: 0.8,1.1; refraction right, left eye: +6.25/ -0.5 x 5 deg, +4.75/ -0.5 x 175 deg; ocular fundus: lacunae of chorioretinal atrophy; electrodiagnostic testing: generalized rod and cone system dysfunction. pattern electroretinogram excluded due to variable fixation generalized rod and cone system dysfunction both eyes pattern electroretinogram not perform KIF11 KIF11 1 1 LOVD
00416628 P3 PubMed: Balikova 2016 - M - - - - - - - MCLMR best corrected visual acuity right, left eye: 3,1.3; refraction right, left eye: +4.5/ -2.75 x 20 deg, +6.5/ -2 x 180 deg; ocular fundus: lacunae of chorioretinal atrophy, generalized retinal atrophy, pale discs, attenuated vessels; electrodiagnostic testing: generalized loss of rod function both eyes with asymmetrical cone on- pathway involvement, right > left eye KIF11 KIF11 1 1 LOVD
00416629 P4 PubMed: Balikova 2016 - M - - - - - - - MCLMR best corrected visual acuity right, left eye: 0.25,0.5; refraction right, left eye: +4/ -1 x 180 deg, +4.0/ -1.5 x 180 deg; ocular fundus: lacunae of chorioretinal atrophy, macular pigment mottling, attenuated vessels inferiorly; electrodiagnostic testing: pattern electroretinogram evidence of severe macular dysfunction both eyes KIF11 KIF11 1 1 LOVD
00416630 P5 PubMed: Balikova 2016 - M - - - - - - - MCLMR best corrected visual acuity right, left eye: 1.22,0.9; refraction right, left eye: +1.75/ -3.75 x 180 deg, +2.25/ -4 9 x 180 deg; ocular fundus: diffuse retinal atrophy, both eyes macular retinal pigment epithelium pigmentary changes, pale optic discs; electrodiagnostic testing: generalized rod and cone system dysfunction both eyes. pattern electroretinogram evidence of macular dysfunction both ey KIF11 KIF11 1 1 LOVD
00416631 P6 PubMed: Balikova 2016 - F - - - - - - - MCLMR best corrected visual acuity right, left eye: 0.4,0.5; refraction right, left eye: +3.5/ -1.5 x 10 deg, +4/ -4/2.0 x 160 deg; ocular fundus: lacunae of chorioretinal atrophy, pale discs, attenuated vessels; electrodiagnostic testing: mild generalized rod and cone system dysfunction both eyes pattern electroretinogram evidence of macular dysfunction both eyes KIF11 KIF11 1 1 LOVD
00416632 P7 PubMed: Balikova 2016 - M - - - - - - - MCLMR best corrected visual acuity right, left eye: 0.6,no perception of light; refraction right, left eye: myopic astigmatism; ocular fundus: myopic astigmatism, right eye: lacunae of chorioretinal atrophy with incomplete peripheral retinal vascularization, left eye: retinal detachment; electrodiagnostic testing: reported as abnormal (no detailed description is available) KIF11 KIF11 1 1 LOVD
00416845 4 PubMed: Rump 2016 - M - - - - - - - MCLMR brain magnetic resonance imaging: normal; additional clinical featureschorioretinopathy, mild developmental delay, hip dysplasia (mother with microcephaly and learning problems) KIF11 KIF11 1 1 LOVD
00416855 ? PubMed: Riedl 2017 - F - - - - - - - MCLMR 8w; cloudiness in both of the baby's eyes; did not seem to react to light stimuli; born after 39 weeks and 2 days of pregnancy with a birthweight of 3,010 g,no evidence of infection during pregnancy; edema of the forehead, neck, and feet were observed in the 16th week of gestation; birth: severe microcephaly (head circumference 30 cm [-3 SD]) as well as edema at the dorsa of the feet; during the neonatal period, Turner syndrome ruled out with genetic testing; echocardiography: inconspicuous, no abnormal abdominal or pelvic symptoms; both eyes: normal intraocular pressure; right eye: anterior chamber normal with perfused vessels visible through the clear lens; retrolental white mass with vessels, left eye: the anterior chamber almost completely dislodged, vessels drawn from the iris to the lens, the lens clear, but the ciliary body villi pulled backward, a retrolental white mass with vessels; chamber angle not visible by gonioscopy in the left eye; funduscopy was not possible in either eye due to the white retrolental masses; axial length right/left eye: 15.82 / 16.51 mm ; explorative vitrectomy performed on the right eye via pars plana after a potential persistent hyperplastic primary vitreous was detected in both ultrasound and magnetic resonance imaging: total retinal detachment found KIF11 KIF11 1 1 LOVD
00416858 ? PubMed: Karjosukarso 2018 - F - - - 28y - - - MCLMR normal gestation and delivery; nystagmus, convergent strabismus, mild microcephaly at an early age; 3y: low visual acuity and strabismus of the right; occlusion of the left eye was tried for a short period without success and strabismus was corrected by surgery; 7y: best corrected visual acuity right, left eye: finger counting, 20/50; neurological examination: slight psychomotor retardation; computer tomography: no structural abnormalities of the brain and ventricles, nor any cerebral calcifications; skull circumference: 48 cm (<p2; second percentile); laboratory tests for metabolic disorders and toxoplasmosis: negative; 9y: fundus: prominent falciform retinal fold running from the optic disk to the inferior-temporal periphery in the right eye, some retinal vessels outside the fold and no abnormalities in the peripheral retina, some white tissue attached to the pars plana; left eye, areas of retinal pigmented epithelium atrophy and an abrupt termination of the temporal retinal vessels was observed in the equatorial area: the more peripheral part of the retina avascular showing some local areas of retinal pigment epithelium atrophy; during 17 years of follow-up, no significant changes in the anterior segments and fundi of both eyes noted, nor did visual acuity decline; died at 28y of a cause that is unrelated to the phenotype KIF11 KIF11 1 1 LOVD
00464615 - - - M no Israel North African Jewish - - - - MCLMR - - KIF11 1 1 Tamar Ben-Yosef
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