Phenotypes for disease #02717 (MDC1A (dystrophy, muscular, congential, merosin deficient, type 1a (MDC-1A)), OMIM:607855)

25 entries on 1 page. Showing entries 1 - 25.
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AscendingPhenotype ID     
Diagnosis/Initial     
Diagnosis/Definite     
Inheritance     
Phenotype details     
Age/Examination     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
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Owner     
Individual ID     
0000278346 - - Familial, autosomal recessive - - - - - - Polina Chausova 00384562
0000303360 Merosin deficient muscular dystrophy MDC1A Familial, autosomal recessive - - - - - - Ponghatai Damrongphol 00411284
0000319374 - - Unknown Hypotonia, Elevated circulating creatine kinase concentration, Muscular dystrophy 00y08m - - - unknown Andreas Laner 00428469
0000323910 congenital muscular dystrophy MDC1A Familial, autosomal recessive Motor delay Elevated circulating creatine kinase concentration Proximal muscle weakness in lower limbs (HP:0008994) 02y 02y 00y03m Weak cry (HP:0001612), hypotonia (HP:0001252) - Nguyen Hoang 00433435
0000323912 congenital muscular dystrophy MDC1A Familial, autosomal recessive Muscle weakness (HP:0001324) Motor delay (HP:0001270) Elevated circulating creatine kinase concentration (HP:0003236) Hypotonia (HP:0001252) No-Seizure (HP:0001250) - 03y 00y05m Muscle weakness (HP:0001324), weak movements nhhoang@igr.ac.vn Nguyen Hoang 00433436
0000323913 congenital muscular dystrophy MDC1A Familial, autosomal recessive Proximal muscle weakness in upper and lower limbs (HP:0008997) Elevated circulating creatine kinase concentration (HP:0003236) Motor delay (HP:0001270) 05y 00y05m 00y04m Neonatal hypotonia (HP:0001319) - Nguyen Hoang 00433437
0000323914 congenital muscular dystrophy MDC1A Familial, autosomal recessive Proximal muscle weakness in upper limbs (HP:0008997) Proximal muscle weakness in lower limbs (HP:0008994) wheelchair-dependence 04y 00y04m 00y01m Weak cry (HP:0001612) - Nguyen Hoang 00433438
0000323915 congenital muscular dystrophy MDC1A Familial, autosomal recessive Delayed ability to roll over (HP:0032989) wheelchair dependence - 00y06m 00y01m Hypotonia (HP:0001252) - Nguyen Hoang 00433439
0000334679 - MDC1A Familial, autosomal recessive HP:0003577 Congenital onset HP:0030091 Absent muscle fiber merosin HP:0002540 Inability to walk HP:0007103 Hypointensity of cerebral white matter on MRI No Seizure - - - - - María Eugenia Foncuberta 00445403
0000334680 - MDC1A Familial, autosomal recessive HP:0003577 Congenital onset HP:0030091 Absent muscle fiber merosin HP:0002540 Inability to walk HP:0007103 Hypointensity of cerebral white matter on MRI No Seizure - - - - - María Eugenia Foncuberta 00445446
0000334681 - MDC1A Familial, autosomal recessive HP:0003577 Congenital onset HP:0002540 Inability to walk No Seizure - - - - - María Eugenia Foncuberta 00445447
0000335600 - MDC1A Familial, autosomal recessive HP:0003577 Congenital onset HP:0030091 Absent muscle fiber merosin HP:0002540 Inability to walk HP:0007103 Hypointensity of cerebral white matter on MRI No Seizure - - - - - María Eugenia Foncuberta 00446365
0000335622 - MDC1A Familial, autosomal recessive HP:0003577 Congenital onset HP:0030091 Absent muscle fiber merosin HP:0002540 Inability to walk No Seizure - - - - - María Eugenia Foncuberta 00446396
0000335623 - MDC1A Familial, autosomal recessive HP:0003577 Congenital onset HP:0002540 Inability to walk HP:0007103 Hypointensity of cerebral white matter on MRI No Seizure - - - - - María Eugenia Foncuberta 00446397
0000335624 - MDC1A Familial, autosomal recessive HP:0003577 Congenital onset HP:0002540 Inability to walk HP:0007103 Hypointensity of cerebral white matter on MRI No Seizure - - - - - María Eugenia Foncuberta 00446398
0000335625 - - Familial, autosomal recessive HP:0003577 Congenital onset HP:0030091 Absent muscle fiber merosin HP:0002540 Inability to walk HP:0007103 Hypointensity of cerebral white matter on MRI HP:0001250 Seizure - - - - - María Eugenia Foncuberta 00446399
0000335627 - MDC1A Familial, autosomal recessive HP:0003577 Congenital onset HP:0030091 Absent muscle fiber merosin HP:0002540 Inability to walk No Seizure - - - - - María Eugenia Foncuberta 00446402
0000335628 - MDC1A Familial, autosomal recessive HP:0003577 Congenital onset HP:0002540 Inability to walk No Seizure - - - - - María Eugenia Foncuberta 00446403
0000335629 - MDC1A Familial, autosomal recessive HP:0003577 Congenital onset HP:0002540 Inability to walk HP:0007103 Hypointensity of cerebral white matter on MRI No Seizure - - - - - María Eugenia Foncuberta 00446405
0000335630 - MDC1A Familial, autosomal recessive HP:0003577 Congenital onset HP:0002540 Inability to walk No Seizure - - - - - María Eugenia Foncuberta 00446406
0000338741 - MDC1A (# 607855) Familial, autosomal recessive Congenital onset (HP:0003577) Inability to walk (HP:0002540) Absent muscle fiber merosin (HP:0030091) - - - - - María Eugenia Foncuberta 00449567
0000338743 - MDC1A (# 607855) Familial, autosomal recessive Congenital onset (A phenotypic abnormality that is present at birth.) (HP:0003577) Inability to walk (HP:0002540) Absent muscle fiber merosin (HP:0030091) Hypointensity of cerebral white matter on MRI (HP:0007103) - - - - - María Eugenia Foncuberta 00449569
0000341364 - - Familial, autosomal recessive Abnormality of the nervous system, Myopathy, Multiple joint contractures, Elevated circulating creatine kinase concentration 07y - - - - Andreas Laner 00452804
0000341402 - - Familial, autosomal recessive Abnormality of the nervous system, Myopathy, Multiple joint contractures, Elevated circulating creatine kinase concentration 09y - 00y - - Andreas Laner 00452839
0000351474 MDC-1A MDC1A (# 607855) Familial, autosomal recessive Talipes equinovarus (HP:0001762), Hamstring contractures (HP:0003089), Motor delay (HP:0001270), Highly elevated creatine kinase (HP:0030234), Abnormal brainstem MRI signal intensity (HP:0012747), Macroglossia (HP:0000158) 03y 03y11m - - - María Eugenia Foncuberta 00466088
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