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

60 entries on 1 page. Showing entries 1 - 60.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000000630 - - Familial, autosomal dominant - - - - - - Pia Ostergaard 00001198
0000000632 - - Familial, autosomal dominant - - - - - - Pia Ostergaard 00001199
0000000633 - - Familial, autosomal dominant - - - - - - Pia Ostergaard 00001200
0000000634 - - Unknown - - - - - - Pia Ostergaard 00001201
0000000635 - - Isolated (sporadic) - - - - - - Pia Ostergaard 00001202
0000000636 - - Familial, autosomal dominant - - - - - - Pia Ostergaard 00001203
0000000637 - - Familial, autosomal dominant - - - - - - Pia Ostergaard 00001204
0000000638 - - Isolated (sporadic) - - - - - - Pia Ostergaard 00001205
0000000640 - - Unknown - - - - - - Pia Ostergaard 00001207
0000000641 - - Familial, autosomal dominant - - - - - - Pia Ostergaard 00001208
0000000642 - - Familial, autosomal dominant - - - - - - Pia Ostergaard 00001209
0000000644 - - Unknown - - - - - - Pia Ostergaard 00001211
0000000645 - - Familial, autosomal dominant - - - - - - Pia Ostergaard 00001212
0000000646 - - Isolated (sporadic) - - - - - - Pia Ostergaard 00001213
0000001554 - - Familial, autosomal dominant - - - - - - Pia Ostergaard 00002593
0000001555 - - Isolated (sporadic) - - - - - - Pia Ostergaard 00002594
0000001556 - - Familial, autosomal dominant - - - - - - Pia Ostergaard 00002595
0000001559 - - Familial, autosomal dominant - - - - - - Pia Ostergaard 00002597
0000001562 - - Familial, autosomal dominant - - - - - - Pia Ostergaard 00002599
0000001563 - - Familial, autosomal dominant - - - - - - Pia Ostergaard 00002600
0000001564 - - Familial, autosomal dominant - - - - - - Pia Ostergaard 00002601
0000002024 lissencephaly, ambiguous genitalia, agenesis corpus callosum - Isolated (sporadic) - - - - - - Johan den Dunnen 00003184
0000002096 - - Isolated (sporadic) - - - - - - Johan den Dunnen 00003257
0000017387 - - Isolated (sporadic) 07y - - - - - Pia Ostergaard 00019597
0000017388 - - Isolated (sporadic) - - - - - - Pia Ostergaard 00019598
0000017389 - - Unknown - - - - - - Pia Ostergaard 00019599
0000017390 - - Isolated (sporadic) - - - - - - Pia Ostergaard 00019600
0000017391 - - Unknown - - - - - - Pia Ostergaard 00019601
0000044545 Microcephaly HP:0000252 - Familial, autosomal dominant - - - - - - Birgit Sikkema-Raddatz 00057249
0000050174 - - Unknown - - - - - - Michel van Geel 00063603
0000050195 - - Unknown - - - - - - Michel van Geel 00063624
0000085477 Non-syndromic hearing loss - Familial, autosomal recessive - - - - - - Wenjun Xia 00107712
0000129327 - MCLMR Isolated (sporadic) - MCLMR - - - - Pascal Brouillard 00164217
0000129328 - MCLMR Familial, autosomal dominant - MCLMR - - - - Pascal Brouillard 00164218
0000129329 - MCLMR Familial, autosomal dominant - MCLMR - - - - Pascal Brouillard 00164219
0000129330 - MCLMR Familial, autosomal dominant - MCLMR - - - - Pascal Brouillard 00164220
0000129331 - MCLMR Isolated (sporadic) - MCLMR - - - - Pascal Brouillard 00164221
0000129332 - MCLMR Isolated (sporadic) - MCLMR - - - - Pascal Brouillard 00164222
0000129333 - MCLMR Isolated (sporadic) - MCLMR - - - - Pascal Brouillard 00164223
0000129335 - MCLMR Isolated (sporadic) - MCLMR - - - - Pia Ostergaard 00164225
0000129336 - MCLMR Familial, autosomal dominant - MCLMR - - - - Pascal Brouillard 00164226
0000129337 - MCLMR Isolated (sporadic) - MCLMR - - - - Pascal Brouillard 00164227
0000129338 - MCLMR Isolated (sporadic) - MCLMR - - - - Pascal Brouillard 00164228
0000129339 - MCLM Isolated (sporadic) - MCLM - - - - Pascal Brouillard 00164229
0000129340 - MCLM Familial, autosomal dominant - MCLM - - - - Pascal Brouillard 00164230
0000129341 - MCLM Familial, autosomal dominant - MCLM - - - - Pascal Brouillard 00164231
0000231738 - - Unknown - - - - - - Sha Hong 00305891
0000300099 Secondary microcephaly, Constipation, Respiratory tract infection, Intention tremor - Unknown 01y - - - - - Andreas Laner 00407969
0000308344 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 - Isolated (sporadic) <15y microcephaly with/without chorioretinopathy, lymphedema, or mental retardation (MCLMR) - - - - LOVD 00416624
0000308346 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 - Isolated (sporadic) 10y microcephaly with/without chorioretinopathy, lymphedema, or mental retardation (MCLMR) - - - - LOVD 00416626
0000308347 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 - Isolated (sporadic) 6y microcephaly with/without chorioretinopathy, lymphedema, or mental retardation (MCLMR) - - - - LOVD 00416627
0000308348 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 - Isolated (sporadic) 4y microcephaly with/without chorioretinopathy, lymphedema, or mental retardation (MCLMR) - - - - LOVD 00416628
0000308349 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 - Isolated (sporadic) 7y microcephaly with/without chorioretinopathy, lymphedema, or mental retardation (MCLMR) - - - - LOVD 00416629
0000308350 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 - Isolated (sporadic) 10y microcephaly with/without chorioretinopathy, lymphedema, or mental retardation (MCLMR) - - - - LOVD 00416630
0000308351 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 - Isolated (sporadic) 5y microcephaly with/without chorioretinopathy, lymphedema, or mental retardation (MCLMR) - - - - LOVD 00416631
0000308352 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) - Isolated (sporadic) 2y microcephaly with/without chorioretinopathy, lymphedema, or mental retardation (MCLMR) - - - - LOVD 00416632
0000308355 brain magnetic resonance imaging: normal; additional clinical featureschorioretinopathy, mild developmental delay, hip dysplasia (mother with microcephaly and learning problems) - Familial, autosomal dominant 2y Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation [MIM 152950] - - - - LOVD 00416845
0000308365 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 - Familial, autosomal dominant 56d microcephaly with/without chorioretinopathy, lymphedema, or mental retardation (MCLMR) - - - - LOVD 00416855
0000308368 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 - Familial, autosomal dominant 28y familial exudative vitreoretinopathy with microcephaly - - - - LOVD 00416858
0000308369 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 del 22q11.2;MCLMR Isolated (sporadic) 08y microcephaly with or without chorioretinopathy, lymphedema, or mental retardation - 00y00m - - Anna Tracewska 00045130
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