Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
laminin, gamma 1
Synonyms:
laminin B2,  Lamb2

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Lamc1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Lamc1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spastic Paraplegia With Neuropathy And Poikiloderma
Spastic paraplegia, Onion bulb formation, Demyelinating motor neuropathy, Distal amyotrophy, Demy... OMIM:182815
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Segmental peripheral demyelination/remyelination, Onion bulb formation, Myelin outfoldings, Clust... OMIM:607734
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Increased endom... OMIM:619733
Roussy-Levy Hereditary Areflexic Dystasia
Action tremor, Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Onio... OMIM:180800
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Foot dorsiflexor weakness, Segmental peripheral demyelination/remyelination, Onion bulb formation... OMIM:606483
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Lower limb muscle weakness, Demyelinating motor neuropathy, Symmetrical progressive peripheral de... ORPHA:208981
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Onion bulb formatio... OMIM:601098
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Peripheral demyelination, Skeletal muscle atrophy, Vocal cord paresis, Decreased number of large ... OMIM:614895
Tibial Muscular Dystrophy
Foot dorsiflexor weakness, Proximal muscle weakness in lower limbs, Increased variability in musc... ORPHA:609
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Upper limb muscle weakness, Segmental peripheral demyelination/remyelination, Axonal degeneration... OMIM:607791
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, Increased variability in muscle fiber diameter, EMG: myopathic ab... OMIM:254110
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb form... OMIM:606482
Myopathy, Distal, With Rimmed Vacuoles
Foot dorsiflexor weakness, Skeletal muscle atrophy, Increased variability in muscle fiber diamete... OMIM:617158
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Resting tremor, Optic atrophy, Involuntary movements, Increased variability in muscle f... ORPHA:401768
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Foot dorsiflexor weakness, Limb-girdle muscular dystrophy, Proximal muscle weakness in lower limb... OMIM:615424
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Proteinuria, Aplasia/hypoplasia of the uterus, Bilater... ORPHA:411709
Tubular Aggregate Myopathy
Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter, EMG: myopathic abnor... ORPHA:2593
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Upper limb muscle weakness, Decreased number of peripheral myelinated nerve fibers, Axonal degene... OMIM:607677
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Foot dorsiflexor weakness, Peripheral demyelination, Decreased number of large peripheral myelina... OMIM:608340
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Foot dorsiflexor weakness, Axonal regener... OMIM:607731
Autosomal Recessive Spastic Paraplegia Type 43
Spastic gait, Spastic paraparesis, Ankle flexion contracture, Knee flexion contracture, Spasticit... ORPHA:320370
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Achilles tendon contracture, Incoordination, Peripheral axonal degeneration, Hand tremor, Dysmetr... OMIM:302800
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Hypertonia, Foot dorsiflexor weakness, Flexion contracture, Onion bulb formation, Limb muscle wea... OMIM:609260
Myopathy, Scapulohumeroperoneal
Achilles tendon contracture, Hand muscle atrophy, Nemaline bodies, Foot dorsiflexor weakness, Ske... OMIM:616852
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Proximal lower limb amyotrophy,... OMIM:158600
Central Core Disease Of Muscle
Nemaline bodies, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Ankle f... OMIM:117000
Spinocerebellar Ataxia Type 43
Foot dorsiflexor weakness, Decreased number of large peripheral myelinated nerve fibers, Cogwheel... ORPHA:497764
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, Muscular dystrophy, EMG: myopathic abnormalities, Autophagic vacuoles, Shoul... OMIM:608423
Spastic Paraplegia, Epilepsy, And Mental Retardation
Lower limb muscle weakness, Spastic paraparesis, Spastic paraplegia OMIM:182610
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Foot dorsiflexor weakness, Onion bulb formation, Axonal degeneration/regeneration, Limb muscle we... OMIM:118210
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Foot dorsiflexor weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber pr... OMIM:618655
Charcot-Marie-Tooth Disease, Type 4K
Axonal loss, Peripheral demyelination, Dystonia, Skeletal muscle atrophy, Ataxia OMIM:616684
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decre... OMIM:608673
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Foot dorsiflexor weakness, Decreased nerve conduction velocity, Upper limb muscle weakness, Parap... OMIM:302802
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Foot dorsiflexor weakness, Peripheral demyelination, Hypertrophic nerve changes, Myelin outfoldin... OMIM:118200
Spastic Paraplegia 77, Autosomal Recessive
Lower limb amyotrophy, Babinski sign, Spastic paraplegia OMIM:617046
Vacuolar Neuromyopathy
Foot dorsiflexor weakness, Muscle fiber splitting, Muscular dystrophy, Shoulder girdle muscle wea... OMIM:601846
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Proximal muscle weakness in upper limbs, Peripheral axonal degeneration, Axonal loss, Frequent fa... ORPHA:101097
Myopathy, Distal, 5
Muscle fiber splitting, Myopathy, Distal amyotrophy, Facial palsy, Rimmed vacuoles OMIM:617030
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Abnormal cranial nerve morphology, Onion bulb formation, Upper limb muscle weakness, Decreased mo... OMIM:605253
Bardet-Biedl Syndrome 16
Renal agenesis, Renal cyst, Bronchiolitis, Abnormality of the kidney, External genital hypoplasia... OMIM:615993
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Foot dorsiflexor weakness, Hypertrophic nerve changes, Segmental peripheral demyelination/remyeli... OMIM:118220
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Tetraparesis, Abnormal lower motor neuron morphology, Parkinsonism, Extrapyramidal dyskinesia, Sk... OMIM:105550
Gne Myopathy
Lower limb amyotrophy, Foot dorsiflexor weakness, Weakness of long finger extensor muscles, Lower... ORPHA:602
Myopathy, Centronuclear, 1
Flexion contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Skeletal mus... OMIM:160150
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Ataxia, Paraparesis, Skeletal muscle hypertrophy, Optic atrop... ORPHA:99014
Inclusion Body Myositis
Inflammatory myopathy, Skeletal muscle atrophy, Ragged-red muscle fibers, Quadriceps muscle weakn... ORPHA:611
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Hand muscle atrophy, Peripheral demyelination, Decreased nerve conduction velocity, Skeletal musc... ORPHA:99944
Charcot-Marie-Tooth Disease, Type 4H
Small thenar eminence, Small hypothenar eminence, Onion bulb formation, Decreased number of perip... OMIM:609311
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, C... OMIM:613530
Nonaka Myopathy
Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Distal amyotrophy,... OMIM:605820
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Foot dorsiflexor weakness, Onion bulb formation OMIM:616039
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Myopathy OMIM:618992
Myopathy, Myosin Storage, Autosomal Dominant
Shoulder girdle muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, General... OMIM:608358
Myopathy, Congenital Proximal, With Minicore Lesions
Minicore myopathy, Type 1 muscle fiber predominance, Tongue fasciculations, Z-band streaming, Cen... OMIM:618823
Charcot-Marie-Tooth Disease Type 2B1
Hand muscle atrophy, Shoulder girdle muscle atrophy, Proximal muscle weakness in lower limbs, Per... ORPHA:98856
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, Generalized amyotrophy, Increased variability in muscle fiber dia... OMIM:619178
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Flexion contracture, Skeletal muscle atrophy, Ataxia, Peripheral axonal neuropathy, Spasticity, B... OMIM:611105
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Foot dorsiflexor weakness, Proximal muscle weakness in l... OMIM:601954
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Increased variability in muscle f... OMIM:618848
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Voca... OMIM:162500
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Foot dorsiflexor weakness, Onion bulb formation, Axonal degeneration/regeneration, Upper limb mus... OMIM:605588
X-Linked Charcot-Marie-Tooth Disease Type 3
Foot dorsiflexor weakness, Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs... ORPHA:101077
Mitochondrial Myopathy With Diabetes
Ragged-red muscle fibers, EMG: myopathic abnormalities, Proximal amyotrophy, Ataxia, Weakness of ... OMIM:500002
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic tetraparesis, Foot dorsiflexor weakness, Optic atrophy, Peripheral axonal neuropathy, Pro... ORPHA:496756
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Flexion contracture, Vocal cord paresis, Onion bulb formation, Axonal degeneration/regeneration, ... OMIM:607706
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Degeneration of anterior horn cells, Proximal amyotrophy, Axonal deg... OMIM:604484
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Flexion limitation of toes, Proxi... OMIM:609115
Myopathy, Myofibrillar, 5
Abnormal peripheral nervous system morphology, Muscle fiber cytoplasmatic inclusion bodies, Myofi... OMIM:609524
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Segmental peripheral demyelination/remyelination, Onion bulb formation, Optic atrophy, Distal amy... OMIM:311070
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Peripheral demyelination, Distal upper limb amyotrophy, Gait ataxia, Distal amyotrophy, Optic atr... OMIM:258650
Distal Myopathy, Welander Type
Foot dorsiflexor weakness, Weakness of long finger extensor muscles, Intrinsic hand muscle atroph... ORPHA:603
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Abnormal cranial nerve morphology, Decreased number of large peri... OMIM:601596
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Abnormal sensory nerve conduction velocity, Intrinsic ha... ORPHA:276435
Subacute Inflammatory Demyelinating Polyneuropathy
Axonal loss, Frequent falls, Peripheral demyelination, Choreoathetosis, Diffuse peripheral demyel... ORPHA:206594
Charcot-Marie-Tooth Disease Type 4G
Lower limb amyotrophy, Distal lower limb muscle weakness, Peripheral demyelination, Demyelinating... ORPHA:99953
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Axonal degeneration/regeneration, Foot dorsiflexor weakness, Peripheral demyelination, Distal amy... OMIM:607736
Frontotemporal Dementia With Motor Neuron Disease
Tetraparesis, Abnormal lower motor neuron morphology, Parkinsonism, Apraxia, Generalized amyotrop... ORPHA:275872
Optic Atrophy With Demyelinating Disease Of Cns
Peripheral demyelination, Ataxia, Hemiparesis, CNS demyelination, Optic atrophy OMIM:165200
Spastic Paraplegia 2, X-Linked
Spastic gait, Dysmetria, Flexion contracture, Skeletal muscle atrophy, Lower limb muscle weakness... OMIM:312920
Charcot-Marie-Tooth Disease, Type 4J
Axonal loss, Frequent falls, Distal arthrogryposis, Onion bulb formation, Ankle flexion contractu... OMIM:611228
Bardet-Biedl Syndrome 10
Renal cyst, Abnormality of the kidney, Hypogonadism, Renal insufficiency OMIM:615987
Hypertrophic Neuropathy Of Dejerine-Sottas
Foot dorsiflexor weakness, Hypertrophic nerve changes, Segmental peripheral demyelination/remyeli... OMIM:145900
Autosomal Recessive Spastic Paraplegia Type 67
Progressive spastic paraplegia, Spastic gait, Generalized amyotrophy, Lower limb spasticity, Limb... ORPHA:401820
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber hypertrophy, Foot dorsiflexor weakness, Skeletal muscle atrophy, Muscle fiber splitt... ORPHA:178464
Giant Axonal Neuropathy 2, Autosomal Dominant
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Onion bulb formation, Di... OMIM:610100
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Lower limb amyotrophy, Distal lower limb muscle weakness, Amyotrophy of ankle musculature, Foot d... ORPHA:90103
Cerebral Cavernous Malformations
Cerebral calcification, Intracranial hemorrhage, Retinal vascular malformation, Cerebral cavernou... OMIM:116860
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal agenesis, Aplasia/Hypoplasia of the pancreas, Papillary cystadenoma of the epididymis, Hors... ORPHA:93111
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myositis, Skeletal muscle atrophy, Myopathy, Rimmed vacuoles, Muscle fiber atrophy, Centrally nuc... OMIM:615422
Salih Myopathy
Flexion contracture, Myopathy, Facial palsy, Centrally nucleated skeletal muscle fibers, Calf mus... OMIM:611705
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Aplasia of the uterus, Female hypogonadism, Micropenis, Cryptorchi... ORPHA:755
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Lower limb amyotrophy, Sensory axonal neuropathy, Frequent falls, Muscle fiber splitting, Lower l... OMIM:616924
Mast Syndrome
Lower limb muscle weakness, Apraxia, Spastic paraparesis, Spastic paraplegia, Babinski sign OMIM:248900
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Horseshoe kidney, Renal hypoplasia, Anteriorly displaced urethral meatus, ... OMIM:266810
Autosomal Recessive Spastic Paraplegia Type 57
Abnormality of the Achilles tendon, Spastic paraplegia, Spasticity, Abnormal myelination, Distal ... ORPHA:431329
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Chronic Inflammatory Demyelinating Polyneuropathy
Peripheral demyelination, Segmental peripheral demyelination/remyelination, Abnormal nerve conduc... ORPHA:2932
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Limb-girdle muscle weakness, Generalized amyotrophy, Muscular dystrophy, Increased variability in... ORPHA:86812
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Nephrocalcinosis, Nephrotic syndrome, Septate vagina, Hematuria, Proteinur... OMIM:146255
Myopathy, Myosin Storage, Autosomal Recessive
Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fib... OMIM:255160
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, EMG: myop... OMIM:618940
Charcot-Marie-Tooth Disease, Type 4B2
Foot dorsiflexor weakness, Segmental peripheral demyelination/remyelination, Onion bulb formation... OMIM:604563
Null Syndrome
Progressive spastic paraplegia, Peripheral demyelination, CNS hypomyelination, Ataxia, Decreased ... ORPHA:280234
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in upper limbs, Tetraparesis, Abnormal lower motor neuron morphology, Sk... OMIM:613954
Autosomal Spastic Paraplegia Type 58
Abnormal pyramidal sign, Dysmetria, Frequent falls, Peripheral demyelination, Intention tremor, F... ORPHA:397946
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Horseshoe kidney, Hydronephrosis, Abnormality of the uterus, Multicystic kidney d... OMIM:617805
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Retinitis Pigmentosa 59
Micropenis, Cryptorchidism, Intrauterine growth retardation, Renal insufficiency OMIM:613861
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Increased variability in muscle fiber diameter, Ataxia, Increased intramyocellular lipi... OMIM:619065
Macdermot-Winter Syndrome
Hydronephrosis, Death in infancy, Intrauterine growth retardation, Hypoplastic male external geni... OMIM:247990
Androgen Insensitivity, Partial
Perineal hypospadias, Micropenis, Cryptorchidism, Azoospermia, Male pseudohermaphroditism, Bifid ... OMIM:312300
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Foot dorsiflexor weakness, Decreased number of peripheral myelinated nerve fibers, Axonal degener... OMIM:600882
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Distal lower limb muscle weakness, Acute demyelinating polyneuropathy, Onion bulb formation ORPHA:98916
Renal Hypoplasia
Unilateral renal agenesis, Abnormal renal tubule morphology, Abnormality of the ureter, Decreased... ORPHA:93101
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Proximal muscle weakness in upper limbs, Increased variability in muscle fiber diameter, Hamstrin... ORPHA:206549
Bardet-Biedl Syndrome 6
Renal cyst, Hypospadias, External genital hypoplasia OMIM:605231
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Spastic tetraplegia, Spastic paraparesis, Bradykinesia, Rigidity, Motor axonal neuropat... OMIM:615643
Mitochondrial Complex I Deficiency, Nuclear Type 15
Flexion contracture, Dystonia, Spastic tetraplegia, Peripheral demyelination, Myopathy, Optic atr... OMIM:618237
46,Xy Sex Reversal 11
Aplasia of the uterus, Elevated circulating luteinizing hormone level, Abnormal internal genitali... OMIM:273250
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Distal lower limb muscle weakness, Foot dorsiflexor weakness, Proximal lower limb amyotrophy, Mus... ORPHA:437572
Benign Samaritan Congenital Myopathy
Fasciculations, Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle ... ORPHA:324581
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber p... OMIM:619042
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Ureteral atresia, Patent ductus arteriosus, Bilateral renal agenesis, ... OMIM:618845
Minicore Myopathy With External Ophthalmoplegia
Minicore myopathy, Nemaline bodies, Skeletal muscle atrophy, Type 1 and type 2 muscle fiber minic... OMIM:255320
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Congenital muscular dystrophy, Skeletal muscle atrophy, Increased variability in muscle fiber dia... OMIM:613204
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Foot dorsiflexor weakness, Facial hypotonia, Hip flexor weakness, Increased endomysial connective... ORPHA:266
Oculopharyngodistal Myopathy 3
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, Generaliz... OMIM:619473
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, CNS hypomyelination, Hypertrophic nerve changes, Axonal degenerat... OMIM:214400
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Progressive spastic paraplegia, Multiple joint contractures, Decreased number of peripheral myeli... ORPHA:320406
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Axonal loss, Abnormal pyramidal sign, Parkinsonism, Dystonia, Peripheral demyelination, Ataxia, R... OMIM:617672
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Ectopic kidney, Azoospermia, Aplasia/hypoplasia of the uterus, Renal dysplasia, B... ORPHA:2578
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300717
Distal Myopathy, Tateyama Type
Weakness of the intrinsic hand muscles, Intrinsic hand muscle atrophy, Increased variability in m... ORPHA:488650
Merrf
Ragged-red muscle fibers, Myopathy, Ataxia, Optic atrophy ORPHA:551
Muscular Dystrophy, Congenital, Merosin-Positive
Flexion contracture, Congenital muscular dystrophy, Increased variability in muscle fiber diamete... OMIM:609456
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Myofibrillar myopathy, Increased variability in muscle fiber diameter, Skeletal muscle fibrosis, ... ORPHA:34516
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of th... OMIM:158330
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Irregular myelin loops, Distal amyotrophy OMIM:601382
Congenital Primary Megaureter
Nephrolithiasis, Abnormal penis morphology, Hydronephrosis, Abnormality of the upper urinary trac... ORPHA:617
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, ... OMIM:609200
Charcot-Marie-Tooth Disease, Type 4D
Axonal loss, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased ne... OMIM:601455
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Shoulder girdle muscle weakness, Angulated muscle fibers, Weakness of facial mu... OMIM:619477
Severe X-Linked Mitochondrial Encephalomyopathy
Sensory axonal neuropathy, Skeletal muscle atrophy, Involuntary movements, Increased variability ... ORPHA:238329
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Renal agenesis, Ectopic kidney, Azoospermia, Bicornuate uterus, Hypopl... OMIM:601076
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Ragged-red muscle fibers, Involuntary movements, Fasciculations, Tetrapl... OMIM:300816
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Aplasia of the uterus, Septate vagina, Hydronephrosis, Uterus didelphy... ORPHA:2237
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:615376
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Abnormal pyramidal sign, Peripheral demyelination DECIPHER:59
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Cryptorchidism, Testicular seminoma, Renal insufficiency, Hypogonadism ORPHA:281090
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Paroxysmal choreoathetosis, Frequent falls, Ragged-red muscle fibers, Poor motor ... OMIM:500003
Spinocerebellar Ataxia 18
Sensory axonal neuropathy, Dysmetria, Skeletal muscle atrophy, Limb muscle weakness, Progressive ... OMIM:607458
Alpha-B Crystallin-Related Late-Onset Myopathy
Foot dorsiflexor weakness, Limb-girdle muscle weakness, Increased variability in muscle fiber dia... ORPHA:399058
Hereditary Continuous Muscle Fiber Activity
Spastic gait, Ataxia, Congenital diaphragmatic hernia, Type 1 muscle fiber predominance, Slurred ... ORPHA:972
Leukodystrophy, Hypomyelinating, 2
Sensory axonal neuropathy, Dystonia, Choreoathetosis, Intention tremor, Spastic paraparesis, Atax... OMIM:608804
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Flexion contracture, Centrally nucleated skeletal muscle fibers, Arthrogryposis multiplex congeni... OMIM:618484
Methionine Adenosyltransferase I/Iii Deficiency
Peripheral demyelination, Dystonia, CNS demyelination OMIM:250850
Myopathy, Centronuclear, 2
Flexion contracture, Generalized amyotrophy, EMG: myopathic abnormalities, Facial palsy, Scapular... OMIM:255200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscular dystrophy, Increased variability in muscle fiber diameter, EMG: myopathic abnormalities,... OMIM:253601
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Aplasia of the uterus, Renal cyst, Unicornuate uterus, Ureteral atresi... OMIM:614527
Leukodystrophy, Hypomyelinating, 5
Lower limb amyotrophy, Intention tremor, Lower limb muscle weakness, Onion bulb formation, Leukod... OMIM:610532
Charcot-Marie-Tooth Disease Type 1B
Skeletal muscle atrophy, Peripheral dysmyelination, Decreased nerve conduction velocity, Peripher... ORPHA:101082
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Centrally nucleated skeletal muscle fibers OMIM:617066
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... ORPHA:457050
Marinesco-Sjogren Syndrome
Flexion contracture, Skeletal muscle atrophy, Ataxia, Gait ataxia, Myopathy, Spasticity, Limb ata... OMIM:248800
Mayer-Rokitansky-Küster-Hauser Syndrome
Unilateral renal agenesis, Aplasia of the uterus, Ectopic kidney, Horseshoe kidney, Hypoplasia of... ORPHA:3109
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2487
Branchiootorenal Syndrome 2
Renal dysplasia, Renal insufficiency OMIM:610896
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Centrally nucleated skeletal muscle fibers, Type 1 fibers relati... ORPHA:596
Spastic Ataxia 4, Autosomal Recessive
Spastic paraparesis, Babinski sign, Spastic ataxia, Optic atrophy OMIM:613672
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Peripheral demyelination, Ataxia, Axonal degeneration, Decreased ... OMIM:604168
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Foot dorsiflexor weakness, Intrinsic hand muscle atrophy, Vocal cord paresis, Polyminimyoclonus, ... OMIM:619574
Adult Krabbe Disease
Tetraparesis, Frequent falls, Peripheral demyelination, CNS demyelination, Lower limb muscle weak... ORPHA:206448
Spastic Paraplegia 30, Autosomal Dominant
Lower limb amyotrophy, Spastic gait, Dysmetria, Lower limb muscle weakness, Spastic paraplegia, A... OMIM:610357
Motor Neuropathy, Peripheral, With Dysautonomia
Peripheral demyelination, Decreased nerve conduction velocity, Skeletal muscle atrophy OMIM:252320
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:607831
Kufor-Rakeb Syndrome
Leg muscle stiffness, Hypertonia, Parkinsonism, Dystonia, Bradykinesia, Spastic paraplegia, Ataxi... OMIM:606693
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Spastic tetraparesis, Peripheral demyelination, Decreased nerve conduction velocity, Gait ataxia,... OMIM:249900
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Unilateral renal agenesis, Hypogonadotropic hypogonadism, Cryptorchidism, Micropenis OMIM:244200
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Ataxia, Myopathy, Spasticity, Myoclonus OMIM:545000
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis OMIM:256690
Spinal Muscular Atrophy, Type Ii
Hand tremor, Skeletal muscle atrophy, Degeneration of anterior horn cells, Tongue fasciculations,... OMIM:253550
Autosomal Dominant Spastic Paraplegia Type 73
Progressive spastic paraplegia, Spastic gait, Lower limb spasticity, Progressive spastic parapare... ORPHA:444099
Prune Belly Syndrome
Tetralogy of Fallot, Abnormality of the ureter, Aplasia/Hypoplasia of the lungs, Patent ductus ar... ORPHA:2970
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Glycosuria, Renal cyst, Epididymal cyst, Nephrolithiasis, Decreased nu... OMIM:137920
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Abnormal renal morphology, Obstructive azoospermia ORPHA:48
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Progressive spastic paraplegia, Spastic gait, Demyelinating peripheral neuropathy, Basal lamina o... ORPHA:2821
Myopathy, Tubular Aggregate, 1
Weakness of the intrinsic hand muscles, Type 2 muscle fiber atrophy, Frequent falls, Flexion cont... OMIM:160565
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dysmetria, Dystonia, Dysdiadochokinesis, Lower limb muscle weakness, Spastic dysarthria, Spastic ... ORPHA:313772
Spinocerebellar Ataxia 25
Facial myokymia, Babinski sign, Ataxia, Decreased number of peripheral myelinated nerve fibers OMIM:608703
Oligomeganephronia
Unilateral renal agenesis, Branchial cyst, Abnormality of medullary pyramid morphology, Decreased... ORPHA:2260
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy ORPHA:1878
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Axonal loss, Foot dorsiflexor weakness, Onion bulb formation, Distal upper limb amyotrophy, Dista... OMIM:614455
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Hydronephrosis, Aplasia of the vagina, Absent external genitalia, Pulmonar... OMIM:271520
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Unilateral renal agenesis, Intrauterine growth retardation, Patent ductus arteriosus, Micropenis,... OMIM:618142
Spinal Muscular Atrophy, Type Iii
Hand tremor, Limb fasciculations, Skeletal muscle atrophy, Degeneration of anterior horn cells, T... OMIM:253400
Autosomal Dominant Cerebellar Ataxia
Action tremor, Dystonia, Progressive cerebellar ataxia, Paraparesis, CNS demyelination, Abnormali... ORPHA:99
Cryptorchidism, Unilateral Or Bilateral
Renal agenesis, Unilateral cryptorchidism, Cryptorchidism OMIM:219050
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Zebra Body Myopathy
Nemaline bodies, Limb-girdle muscular dystrophy, Muscle fiber splitting, Muscle fiber necrosis, E... ORPHA:97240
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Increased varia... OMIM:618138
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Polyneuritis, Peripheral demyelination, Decreased nerve conduction velocity OMIM:162600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Skeletal muscle atrophy, Pr... OMIM:619566
Image Syndrome
Intrauterine growth retardation, Cryptorchidism, Hydronephrosis, Hypospadias, Hypogonadism ORPHA:85173
Myopathy, Congenital, With Fiber-Type Disproportion
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Type 1 fibers r... OMIM:255310
Nemaline Myopathy 5
Nemaline bodies, Proximal amyotrophy, Type 1 muscle fiber predominance, Shoulder flexion contract... OMIM:605355
Bardet-Biedl Syndrome 4
Renal cyst, Cryptorchidism, Abnormality of the kidney, External genital hypoplasia, Hypogonadism OMIM:615982
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Minicore myopathy, Multiple joint contractures, Increased variability in muscle fiber diameter, E... ORPHA:486815
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Myopathy, Rimmed vacuoles, Abnormal muscle fiber morphology ORPHA:270
Charcot-Marie-Tooth Disease Type 4A
Frequent falls, Chronic axonal neuropathy, Vocal cord paresis, Decreased number of large peripher... ORPHA:99948
Partial Androgen Insensitivity Syndrome
Aplasia of the uterus, Perineal hypospadias, Micropenis, Azoospermia, Elevated circulating lutein... ORPHA:90797
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis, Tetralogy of Fallot, Cryptorchidism, Precocious puberty, Gonadal dysge... ORPHA:3306
Miyoshi Muscular Dystrophy 1
Lower limb muscle weakness, Distal amyotrophy, Muscular dystrophy, Deposits immunoreactive to bet... OMIM:254130
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Tetraparesis, Abnormal pyramidal sign, Action tremor, Opisthotonus, Dystonia, Frequent falls, Cra... OMIM:607483
Slowed Nerve Conduction Velocity, Autosomal Dominant
Peripheral demyelination, Onion bulb formation, Decreased nerve conduction velocity OMIM:608236
Spastic Ataxia 5, Autosomal Recessive
Dysmetria, Dystonia, Skeletal muscle atrophy, Increased intramyocellular lipid droplets, Spastic ... OMIM:614487
X-Linked Charcot-Marie-Tooth Disease Type 2
Hand tremor, Foot dorsiflexor weakness, Intrinsic hand muscle atrophy, Optic neuropathy, Spastic ... ORPHA:101076
Adult-Onset Nemaline Myopathy
Nemaline bodies, Flexion contracture, Lower limb muscle weakness, Increased variability in muscle... ORPHA:171442
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Internally nucl... OMIM:618654
Spastic Paraplegia 11, Autosomal Recessive
Spastic gait, Skeletal muscle atrophy, Lower limb muscle weakness, Thenar muscle atrophy, Spastic... OMIM:604360
Hyperuricemic Nephropathy, Familial Juvenile, 3
Nephropathy, Renal insufficiency OMIM:614227
Dysmyelination With Jaundice
Cryptorchidism, Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis, Decreased number of large peripheral myelinated nerve fibers, Axonal regeneration, Dec... OMIM:605285
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Aplasia/Hypoplasia of the lungs, Hypoplasia of penis, Renal hypoplasia... ORPHA:1046
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities OMIM:609283
Alpers-Huttenlocher Syndrome
Choreoathetosis, Spastic paraparesis, Ataxia, Paraparesis, Spasticity, Progressive spasticity, My... ORPHA:726
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Achilles tendon contracture, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, Myofibrill... OMIM:603689
Renal Tubular Dysgenesis
Tetralogy of Fallot, Proximal tubulopathy, Nephropathy, Renotubular dysgenesis, Pulmonary hypopla... ORPHA:3033
Finnish Upper Limb-Onset Distal Myopathy
Weakness of the intrinsic hand muscles, Amyotrophy of ankle musculature, Joint contracture of the... ORPHA:399086
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Frequent falls, Onion bulb formation OMIM:618279
Thymic Aplasia With Fetal Death
Renal agenesis, Ureteral agenesis, Truncus arteriosus, Stillbirth, Pulmonary hypoplasia OMIM:274210
Spinocerebellar Ataxia Type 25
Facial myokymia, Spastic dysarthria, Decreased number of large peripheral myelinated nerve fibers... ORPHA:101111
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Myopathy, Myofibrillar, 8
Achilles tendon contracture, Nemaline bodies, Frequent falls, Generalized amyotrophy, Joint contr... OMIM:617258
Nemaline Myopathy 2
Nemaline bodies, Flexion contracture, Sternocleidomastoid amyotrophy, Foot dorsiflexor weakness, ... OMIM:256030
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Axial malrotation of the kidney, Tetralogy of Fallot, Horseshoe kidney, Ab... ORPHA:3320
Nemaline Myopathy 6
Nemaline bodies, Myopathy, Limb muscle weakness OMIM:609273
Spastic Ataxia, Charlevoix-Saguenay Type
Dysmetria, Spastic gait, Decreased number of large peripheral myelinated nerve fibers, Peroneal m... OMIM:270550
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Hyperechogenic kidneys, Renal insufficiency, Vesicourete... OMIM:601331
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria OMIM:611771
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis, Hydranencephaly, Truncus arteriosus OMIM:601355
Autosomal Recessive Primary Microcephaly
Unilateral renal agenesis, Vesicoureteral reflux ORPHA:2512
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, EMG: myopathic abnormalities OMIM:600334
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Increased variability in muscle fiber diameter, Rimmed vacuoles, Myopathy, Limb-girdle muscular d... OMIM:612937
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Tetraparesis, Decreased number of peripheral myelinated nerve fibers, Clumsiness, Slurred speech,... ORPHA:2386
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Flexion contracture, Muscle fiber splitting, Muscular dystrophy, Facial palsy, Rimmed vacuoles, S... OMIM:603511
Myopathy, Distal, 3
Muscular dystrophy, EMG: myopathic abnormalities, Distal amyotrophy, Clumsiness, Rimmed vacuoles,... OMIM:610099
Spastic Paraplegia 55, Autosomal Recessive
Onion bulb formation, Spastic paraplegia, Peripheral axonal neuropathy, Clonus, Babinski sign, Op... OMIM:615035
Autosomal Recessive Centronuclear Myopathy
Scapular winging, Generalized amyotrophy, Facial diplegia, Type 1 muscle fiber predominance, Hip ... ORPHA:169186
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Limb-girdle muscle weakness, Muscular dystrophy, Limb muscle weakness, C... OMIM:616812
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Aplasia of the uterus, Adrenocorticotropic hormone excess, Precocious puberty in females, Micrope... ORPHA:90793
Bethlem Myopathy 2
Scapular winging, Increased variability in muscle fiber diameter, Flexion contracture, Myopathy OMIM:616471
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Facial palsy, Type 1 muscle fiber predominance ORPHA:178145
Brain Small Vessel Disease 3
Cerebral calcification, Cerebral atrophy, Leukoencephalopathy, Cerebral hemorrhage OMIM:618360
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Spastic paraplegia, Abnormality of peripheral nerve conduction ORPHA:101005
Cardiac-Urogenital Syndrome
Aplasia of the uterus, Tetralogy of Fallot, Patent ductus arteriosus, Micropenis, Cryptorchidism,... OMIM:618280
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Patent ductus arteriosus, Cryptorchidism, Hydronephrosis, Decreased re... OMIM:609757
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Proximal amyotrophy, Myopathy, Muscle fiber splitting OMIM:618129
Urofacial Syndrome 2
Hydronephrosis, Enuresis, Urinary urgency, Recurrent urinary tract infections, Renal insufficienc... OMIM:615112
Myopathy, Distal, 1
Amyotrophy of ankle musculature, Weakness of long finger extensor muscles, Ragged-red muscle fibe... OMIM:160500
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Increased endomysial connective tissue, Muscular dystrophy, Flexion contracture, Ankle flexion co... OMIM:617072
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Dysmetria, Dystonia, Skeletal muscle atrophy, Apraxia, Spastic paraparesis, Brady... OMIM:615157
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Skeletal muscle atrophy, Fasciculations, Bradykinesia, Ataxia, Decreased nerve conduction velocit... OMIM:183050
Autosomal Recessive Spastic Paraplegia Type 55
Foot dorsiflexor weakness, Skeletal muscle atrophy, Lower limb muscle weakness, Optic neuropathy,... ORPHA:320375
Ehlers-Danlos Syndrome, Classic-Like
Unilateral renal agenesis, Bicornuate uterus, Vesicoureteral reflux, Ambiguous genitalia, female OMIM:606408
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Immunodeficiency, Common Variable, 6
Enlarged kidney, Mesangial Immune complex deposition, Hydronephrosis, Glomerulonephritis, Macrosc... OMIM:613496
Diabetic Embryopathy
Tetralogy of Fallot, Ureteral duplication, Renal hypoplasia/aplasia, Micropenis, Hydronephrosis, ... ORPHA:1926
Amish Nemaline Myopathy
EMG: myopathic abnormalities, Proximal amyotrophy, Type 1 muscle fiber predominance, Shoulder fle... ORPHA:98902
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal cyst, Renal hypoplasia, Hydranencephaly, Ureteral agenesis, Renal dysplasia, Neonatal death... OMIM:236500
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Cryptorchidism, Abnormality of the pulmonary artery, Renal hypoplasia/aplasi... ORPHA:1166
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Aplasia of the uterus, Adrenocorticotropic hormone excess, Female external genitalia in individua... ORPHA:168558
Methanol Poisoning
Abnormal corpus callosum morphology, Inflammatory arteriopathy, Abnormal caudate nucleus morpholo... ORPHA:31825
Braddock Syndrome
Unilateral renal agenesis, Intrauterine growth retardation, Pulmonary fibrosis ORPHA:52047
Spastic Paraplegia 20, Autosomal Recessive
Dysmetria, Flexion contracture, Spastic gait, Upper limb spasticity, Lower limb muscle weakness, ... OMIM:275900
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Aplasia of the uterus, Adrenocorticotropic hormone excess, Female external genitalia in individua... ORPHA:289548
Fanconi Anemia, Complementation Group O
Renal cyst, Cryptorchidism, Hydronephrosis, External genital hypoplasia, Stage 5 chronic kidney d... OMIM:613390
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Axonal loss, Peripheral demyelination, Apraxia, Spasticity, Gliosis, Babinski sign, Myoclonus OMIM:221770
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Posterior Column Ataxia With Retinitis Pigmentosa
Peripheral demyelination, Skeletal muscle atrophy, Ataxia, Decreased sensory nerve conduction vel... OMIM:609033
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Vascular dilatation, Ectopic kidney, Renal agenesis, Bifid ureter, Hor... OMIM:617641
Microgastria-Limb Reduction Defects Association
Unilateral renal agenesis, Absent gallbladder, Cystic renal dysplasia, Horseshoe kidney, Splenogo... OMIM:156810
Nephronophthisis 20
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease, Renal insufficiency OMIM:617271
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Frequent falls, Hand tremor, Chronic axonal neuropathy, Skeletal muscle atrophy, Decreased number... OMIM:162400
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Abnormal motor nerve conduction velocity, Muscle fiber necrosis, Increased variability in muscle ... OMIM:614399
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Rimmed vacuoles, Calf muscle hypertrophy, Skeletal muscle atrophy OMIM:617760
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle wea... OMIM:300580
Coenzyme Q10 Deficiency, Primary, 4
Abnormal pyramidal sign, Ataxia, Increased intramyocellular lipid droplets, Myoclonus, Tremor OMIM:612016
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Lethal Congenital Contracture Syndrome 5
Flexion contracture, Centrally nucleated skeletal muscle fibers, Decreased nerve conduction veloc... OMIM:615368
Congenital Absence Of Upper Arm And Forearm With Hand Present
Renal agenesis, Abnormal lung morphology, Congenital malformation of the great arteries, Stillbirth ORPHA:294975
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Frequent falls, Increased variability in muscle fiber diameter, Flexion contracture OMIM:300718
Renal Caliceal Diverticuli-Deafness Syndrome
Hydronephrosis, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of... ORPHA:2838
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Nephrotic syndrome, Renal sarcoma, Renal hypoplasia, Hydronephrosis, Mult... OMIM:143400
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Proteinuria, Glomerulopathy, Microscopic hematuria, Nephropathy, Renal insuff... OMIM:137950
Nemaline Myopathy 4
Nemaline bodies, Flexion contracture, Skeletal muscle atrophy, Facial diplegia, Limb muscle weakn... OMIM:609285
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Scapular winging, Flexion contracture OMIM:300696
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Axonal regeneration, Onion bulb formation OMIM:615185
Reversible Cerebral Vasoconstriction Syndrome
Cerebral edema, Vasospasm, Cerebral hemorrhage, Dilatation of the cerebral artery, Transient isch... ORPHA:284388
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Frequent falls, Spastic paraparesis, Progressive cerebellar ataxia, Lower limb hypertonia, Myoclo... ORPHA:254343
Camos Syndrome
Nephrotic syndrome, Renal insufficiency ORPHA:83472
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumu... OMIM:619518
Dpm3-Cdg
Muscular dystrophy, Calf muscle hypertrophy, Babinski sign, Rimmed vacuoles, Pelvic girdle muscle... ORPHA:263494
Caudal Regression Syndrome
Renal agenesis, Ectopic kidney, Abnormality of the ureter, Ureteral duplication, Cryptorchidism, ... ORPHA:3027
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Childhood-Onset Nemaline Myopathy
Nemaline bodies, Flexion contracture, Increased variability in muscle fiber diameter, Facial dipl... ORPHA:171439
Neurofibromatosis, Familial Spinal
Symmetric spinal nerve root neurofibromas, Plexiform neurofibroma, Lower limb muscle weakness, Ne... OMIM:162210
Lessel-Kubisch Syndrome
Renal hypoplasia, Hypogonadism, Renal insufficiency OMIM:618681
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Lower limb muscle weakness, Increased variability in muscle fiber diameter, EMG: myopathic abnorm... ORPHA:397744
Giant Axonal Neuropathy 1, Autosomal Recessive
Abnormal pyramidal sign, Sensory axonal neuropathy, Spastic paraplegia, Decreased number of perip... OMIM:256850
Krabbe Disease
Peripheral demyelination, Decreased nerve conduction velocity, Progressive spasticity, Decerebrat... OMIM:245200
Testicular Agenesis
Absent testis, Micropenis, Increased circulating gonadotropin level, Absent external genitalia, A... ORPHA:325124
Insensitivity To Pain With Hyperplastic Myelinopathy
Abnormal peripheral myelination OMIM:147530
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Hypogonadotropic hypogonadism, Cryptorchidism, Micropenis, Testicular ... OMIM:308750
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Unilateral renal agenesis, Hypogonadotropic hypogonadism, Azoospermia, Cryptorchidism, Micropenis... OMIM:308700
Tangier Disease
Peripheral demyelination, Facial diplegia, Peripheral axonal neuropathy, Distal amyotrophy, Left ... OMIM:205400
Genitopalatocardiac Syndrome
Renal cyst, Gonadal dysgenesis, male, Double outlet right ventricle, Right aortic arch, Transposi... OMIM:231060
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Abnormal tubulointerstitial morphology, Nephropathy OMIM:602114
Meckel Syndrome, Type 9
Multicystic kidney dysplasia, Ambiguous genitalia, Occipital encephalocele OMIM:614209
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Pelvic girdle amyotrophy, Dystonia, Shoulder girdle muscle atrophy, Limb muscle weakness, Myopath... OMIM:167320
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Type 2 muscle fiber atrophy, Choreoathetosis, Generalized amyotrophy, Ankle flexion contracture, ... OMIM:617519
Brain Small Vessel Disease 2
Schizencephaly, Polymicrogyria, Porencephalic cyst, Intracranial hemorrhage OMIM:614483
Complete Androgen Insensitivity Syndrome
Abnormality of the uterine cervix, Aplasia of the uterus, Abnormal morphology of female internal ... ORPHA:99429
King-Denborough Syndrome
Minicore myopathy, Type 1 muscle fiber predominance, Weakness of facial musculature, Muscle fiber... OMIM:619542
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Dystonia, Choreoathetosis, Decreased number of large peripheral m... OMIM:208920
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Bardet-Biedl Syndrome 19
External genital hypoplasia, Hypogonadism, Renal insufficiency OMIM:615996
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Agenesis of pulmonary vessels, Tetralogy of Fallot, Horseshoe kidney, I... OMIM:601186
Internal Carotid Absence
Cerebral ischemia, Dilatation of the cerebral artery, Subarachnoid hemorrhage ORPHA:981
Leukodystrophy, Hypomyelinating, 3
Abnormal pyramidal sign, Progressive flexion contractures, Spastic paraparesis, Sudanophilic leuk... OMIM:260600
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Sensory axonal neuropathy, Dysmetria, Frequent falls, Skeletal muscle atrophy, Muscle fiber necro... OMIM:607459
Aneurysm, Intracranial Berry, 12
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm OMIM:618734
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Flexion contracture, Skeletal muscle atrophy, Onion bulb formation, Limb muscle weakness, Decreas... OMIM:218000
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Peripheral axonal neuropathy, Skeletal muscle atrophy OMIM:617070
Urofacial Syndrome 1
Cryptorchidism, Hydronephrosis, Enuresis, Urethral obstruction, Recurrent urinary tract infection... OMIM:236730
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Achilles tendon contracture, Frequent falls, Increased endomysial connective tissue, Increased va... ORPHA:353
Myelopathy, Htlv-1-Associated
Abnormal pyramidal sign, Spastic paraparesis OMIM:159580
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Horseshoe kidney, Patent ductus arteriosus, Micropenis, Abnormality of... ORPHA:363444
Thrombocytopenia-Absent Radius Syndrome
Axial malrotation of the kidney, Tetralogy of Fallot, Aplasia of the uterus, Horseshoe kidney, Pa... OMIM:274000
Myopathy, Myofibrillar, 2
Foot dorsiflexor weakness, Muscle fiber splitting, Limb-girdle muscle weakness, Muscular dystroph... OMIM:608810
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Tremor, Abnormal motor n... ORPHA:466768
Congenital Muscular Dystrophy, Ullrich Type
Frequent falls, Flexion contracture, Increased endomysial connective tissue, Increased variabilit... ORPHA:75840
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, EMG: myopathic ... ORPHA:169189
Charcot-Marie-Tooth Disease Type 1F
Proximal muscle weakness in upper limbs, Optic nerve hypoplasia, Scapular winging, Hand muscle at... ORPHA:101085
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Sensory axonal neuropathy, Parkinsonism, Muscle fiber necrosis, Ragged-red muscle fibers, General... OMIM:258450
Cerebral Visual Impairment
Focal cortical dysplasia, Abnormal cerebral morphology, Optic nerve hypoplasia, Ischemic stroke, ... ORPHA:447788
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Glomerular deposits, Renal insufficiency ORPHA:69063
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bifid clitoris, Bladder exstrophy, Epis... OMIM:600057
Coach Syndrome 1
Unilateral renal agenesis, Renal cyst, Stage 5 chronic kidney disease, Multiple small medullary r... OMIM:216360
Hanac Syndrome
Multiple renal cysts, Hematuria, Renal insufficiency ORPHA:73229
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Ectopic kidney, Cystic renal dysplasia, Abnormality of the kidney OMIM:613730
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Hemiplegia/hemiparesis, Ataxia, Skeletal muscle atrophy ORPHA:480
Bardet-Biedl Syndrome 18
Renal insufficiency OMIM:615995
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia, Recurrent respiratory infections, Pulmonary fibrosis ORPHA:2111
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Ataxia, Myopathy, Spasticity, Optic atrophy OMIM:125250
Dural Sinus Malformation
Cerebral edema, Stroke, Cerebellar hemorrhage, Hypoplasia of the frontal lobes, Subarachnoid hemo... ORPHA:97339
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Increased variability in muscle fiber diameter, Flexion contracture, Congenital mus... OMIM:616470
Neuromyelitis Optica Spectrum Disorder
Peripheral demyelination, Paraplegia ORPHA:71211
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Limb-girdle muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Macroglossia, Scapular w... OMIM:616052
Emanuel Syndrome
Unilateral renal agenesis, Intrauterine growth retardation, Patent ductus arteriosus, Micropenis,... ORPHA:96170
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism, Azoospermia, ... OMIM:614837
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Minicore myopathy, Congenital muscular dystrophy, Proxim... ORPHA:598
Coenzyme Q10 Deficiency, Primary, 8
Peripheral demyelination, Left ventricular hypertrophy, Flexion contracture OMIM:616733
Focal Facial Dermal Dysplasia Type Iv
Microcephaly, Intracranial hemorrhage, Hydrocephalus ORPHA:398189
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Hypoplastic aortic arch, Aplasia of the vagina, Aplasia of the uterus ORPHA:457284
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Progressive spastic paraplegia, Demyelinating motor neuropathy, Upper motor neuron dysfunction, T... ORPHA:506353
Mitochondrial Complex I Deficiency, Nuclear Type 29
Stage 5 chronic kidney disease OMIM:618250
Focal Segmental Glomerulosclerosis 10
Proteinuria, Renal insufficiency, Stage 5 chronic kidney disease, Minimal change glomerulonephrit... OMIM:256020
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia, Pulmonary hypoplasia ORPHA:3032
Coenzyme Q10 Deficiency, Primary, 9
Dysmetria, Lower limb spasticity, Ataxia, Type 2 muscle fiber predominance, Myoclonus, Tremor OMIM:619028
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Stroke, Ischemic stroke, Multifocal hyperintensity of cerebral white matter on MRI, Transient isc... ORPHA:136
Matthew-Wood Syndrome
Horseshoe kidney, Intrauterine growth retardation, Cryptorchidism, Renal hypoplasia, Abnormality ... ORPHA:2470
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Vocal cord paralysis, Axonal degeneration, Decreased number of peripheral myelinated nerve fibers... OMIM:615490
Renal Dysplasia
Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic kidney dyspl... ORPHA:93108
Myopathy, Congenital, Progressive, With Scoliosis
Cryptorchidism, Hydronephrosis, Renal atrophy OMIM:618578
Mitochondrial Myopathy, Infantile, Transient
Muscle fiber hypertrophy, Ragged-red muscle fibers, Increased muscle lipid content, Macroglossia,... OMIM:500009
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hydronephrosis, Duplicated collecting system, Intrauterine growth retardation OMIM:617093
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Unilateral renal agenesis, Intrauterine growth retardation, Patent ductus arteriosus OMIM:608406
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hydronephrosis, Vesicoureteral reflux, Recurrent urinary tract infections, Neurogenic bladder, St... OMIM:191800
Aneurysm, Intracranial Berry, 1
Dilatation of the cerebral artery, Intracranial hemorrhage OMIM:105800
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Aneurysm, Intracranial Berry, 2
Cerebral berry aneurysm, Subarachnoid hemorrhage OMIM:608542
Adult-Onset Distal Myopathy Due To Vcp Mutation
Weakness of the intrinsic hand muscles, Foot dorsiflexor weakness, Frequent falls, Parkinsonism, ... ORPHA:329478
Spastic Paraparesis-Deafness Syndrome
Spastic paraparesis, Hemiplegia/hemiparesis, Ataxia ORPHA:2815
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Axonal loss, Flexion contracture, Skeletal muscle atrophy, Increased variability in muscle fiber ... OMIM:616867
Amyotrophic Lateral Sclerosis 20
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrocalcinosis, Glomerular sclerosis, Nephrolithiasis, Proximal tubulopathy, Hypercalciuria, Ch... OMIM:310468
Primary Membranoproliferative Glomerulonephritis
Nephrotic syndrome, Acute kidney injury, Proteinuria, Chronic kidney disease, Glomerular subendot... ORPHA:54370
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Peripheral demyelination, Ataxia, Gliosis, CNS demyelination, Tremor OMIM:220111
Distal Myotilinopathy
Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Multiple joint contractures, Distal... ORPHA:98911
Vacterl/Vater Association
Renal agenesis, Ectopic kidney, Intrauterine growth retardation, Aplasia/Hypoplasia of the lungs,... ORPHA:887
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst, Multinodular goiter OMIM:138790
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Left ventricular noncompaction, Flexion contracture, Dystonia, Ragged-red muscle fibers, Ataxia, ... OMIM:252011
Autosomal Recessive Progressive External Ophthalmoplegia
Sensory axonal neuropathy, Action tremor, Parkinsonism with favorable response to dopaminergic me... ORPHA:254886
Senior-Loken Syndrome
Nephronophthisis, Stage 5 chronic kidney disease, Chronic kidney disease, Premature ovarian insuf... ORPHA:3156
Phocomelia, Schinzel Type
Aplasia of the uterus, Intrauterine growth retardation, Cryptorchidism, Hypoplasia of penis, Meni... ORPHA:2879
Nephrosialidosis
Nephrotic syndrome, Death in childhood, Bone-marrow foam cells, Nephropathy, Renal insufficiency OMIM:256150
Autosomal Recessive Spastic Paraplegia Type 35
Spastic tetraparesis, Foot dorsiflexor weakness, Dysmetria, Frequent falls, Generalized dystonia,... ORPHA:171629
Frasier Syndrome
Nephrotic syndrome, Proteinuria, Gonadal dysgenesis with female appearance, male, Gonadoblastoma,... ORPHA:347
Meckel Syndrome, Type 10
Renal cyst, Micropenis, Occipital encephalocele, Anencephaly, Hypospadias OMIM:614175
Infantile-Onset X-Linked Spinal Muscular Atrophy
Inflammatory myopathy, Skeletal muscle atrophy, Spinal muscular atrophy, Ankle flexion contractur... ORPHA:1145
Penoscrotal Transposition
Renal agenesis, Abnormality of the ureter, Shawl scrotum, Abnormal external genitalia, Renal dysp... ORPHA:2842
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis OMIM:619504
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617610
Primary Angiitis Of The Central Nervous System
Stroke, Cerebral vasculitis, Transient ischemic attack, Recurrent subcortical infarcts, Pseudopap... ORPHA:140989
Congenital Multicore Myopathy With External Ophthalmoplegia
Muscle fiber hypertrophy, Nemaline bodies, Flexion contracture, Sternocleidomastoid amyotrophy, A... ORPHA:98905
Rudiger Syndrome
Ureterovesical stenosis, Micropenis, Ovarian cyst, Death in infancy, Bicornuate uterus OMIM:268650
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis, Intrauterine growth retardation OMIM:616603
Focal Segmental Glomerulosclerosis 2
Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal se... OMIM:603965
Diethylstilbestrol Syndrome
Epididymal cyst, Micropenis, Cryptorchidism, Abnormality of the uterus, Testicular dysgenesis, Ab... ORPHA:1916
Congenital Anomalies Of Kidney And Urinary Tract 3
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Renal cyst OMIM:618270
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Intrauterine growth retardation, Patent ductus arteriosus, Proximal tu... OMIM:614576
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Renal insufficiency OMIM:613779
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Intrauterine growth retardation, Chronic kidney disease, Nephropathy, Focal segmental... OMIM:617056
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Aplasia of the uterus, Hypogonadotropic hypogonadism, Precocious puberty in females, Premature pu... ORPHA:90794
Ochoa Syndrome
Cryptorchidism, Hydronephrosis, Urethral obstruction, Recurrent urinary tract infections, Renal i... ORPHA:2704
Trisomy 13
Abnormality of the ureter, Intrauterine growth retardation, Patent ductus arteriosus, Abnormal mo... ORPHA:3378
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Cryptorchidism, Multicystic kidney dysplasia, Renal dysplasia, Umbilic... OMIM:308205
Renal Failure, Progressive, With Hypertension
Proteinuria, Nephritis, Microscopic hematuria, Renal insufficiency, Stage 5 chronic kidney disease OMIM:161900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Renal cyst, Micropenis, Hydronephrosis, Anencephaly, Occipital encephalocele, Renal dysplasia, De... OMIM:615287
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cerebral dysmyelination, Peripheral demyelination, Spastic tetraplegia, Spastic paraparesis, Dysm... OMIM:609136
Eales Disease
Subhyaloid hemorrhage, Vitritis, Epistaxis, Retinal vasculitis, Retinal thinning, Rhegmatogenous ... ORPHA:40923
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Nephrocalcinosis, Hyposthenuria, Proximal tubulopathy, Hypercalciuria, Beta 2-microgl... OMIM:308990
Nail-Patella-Like Renal Disease
Renal insufficiency, Microscopic hematuria, Glomerulopathy, Proteinuria ORPHA:2613
Cystinuria
Cystinuria, Nephrolithiasis, Hyperlysinuria, Recurrent urinary tract infections, Renal insufficie... OMIM:220100
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Decreased nerve conduction velocity, Limb muscle weakness OMIM:615284
Myasthenic Syndrome, Congenital, 14
Limb-girdle muscle weakness, Ragged-red muscle fibers, Scapular winging, Flexion contracture OMIM:616228
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Radial-Renal Syndrome
Unilateral renal agenesis, Ectopic kidney OMIM:179280
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Focal segmental glomerulosclerosis, Hematuria, Proteinuria OMIM:607832
Cat-Eye Syndrome
Abnormal localization of kidney, Hydronephrosis, Intrauterine growth retardation, Renal hypoplasi... ORPHA:195
Myopathy, Myofibrillar, 7
Achilles tendon contracture, Nemaline bodies, Flexion contracture, Foot dorsiflexor weakness, Mul... OMIM:617114
Intellectual Developmental Disorder, Autosomal Dominant 56
Paraparesis, Spasticity, Ataxia OMIM:617854
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Proteinuria, Renal hypoplasia, Stage 5 chronic kidney disease, Focal segmenta... OMIM:616002
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Subarachnoid hemorrhage, Encephalomalacia, Transient ischem... ORPHA:231160
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Spastic paraparesis, Thenar muscle atrophy, Interosseus muscle atrophy, Fiber type grouping, Dist... OMIM:500013
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Sensory axonal neuropathy, Rhabdomyolysis, Parkinsonism, Resting tremor, Skeletal muscle atrophy,... OMIM:157640
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Stage 5 chronic kidney disease, Nephrotic syndrome, Proteinuria OMIM:614199
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria, Glomerulonephrit... OMIM:615008
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Pancreatic cysts, Polycystic kidney dysplasia, Tubulointerstitial fi... OMIM:263200
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Death in infancy, Hydroureter OMIM:618240
Metachromatic Leukodystrophy
Dystonia, Peripheral demyelination, Spastic tetraplegia, Ataxia, Decreased nerve conduction veloc... OMIM:250100
Adrenoleukodystrophy
Incoordination, Lower limb muscle weakness, Spastic paraplegia, Paraparesis, Truncal ataxia, Limb... OMIM:300100
Axial Mesodermal Dysplasia Spectrum
Renal cyst, Abnormality of the ureter, Aplasia/Hypoplasia of the lungs, Abnormal morphology of fe... ORPHA:1834
Nephronophthisis-Like Nephropathy 2
Periglomerular fibrosis, Polyuria, Bronchiectasis, Recurrent respiratory infections, Renal insuff... OMIM:619468
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Acute kidney injury, Proteinuria, Abnormal glomerular mesangium morphology, G... ORPHA:567544
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Indomethacin Embryofetopathy
Multicystic kidney dysplasia, Abnormal renal tubule morphology, Nephropathy, Renal insufficiency ORPHA:1909
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Renal hypoplasia, Renal cyst, Truncus arteriosus OMIM:228940
Galloway-Mowat Syndrome 5
Peripheral demyelination, Spasticity, Ataxia OMIM:617731
Coffin-Siris Syndrome 1
Aplasia of the uterus, Tetralogy of Fallot, Ectopic kidney, Intrauterine growth retardation, Pate... OMIM:135900
Smith-Lemli-Opitz Syndrome
Unilateral renal agenesis, Renal agenesis, Renal cyst, Small scrotum, Intrauterine growth retarda... OMIM:270400
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Proteinuria, Glomerulopathy, Nephropathy, Renal insufficiency, Focal segmenta... OMIM:254900
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Symmetric peripheral demyelination, Ataxia, Leukodystrophy, Spasticity, Gliosis, Babinski sign, P... OMIM:169500
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Generalized distal tubular acidosis, Proteinuria, Glomerulopathy, Microscopic... OMIM:601894
C3 Glomerulopathy 3
Stage 5 chronic kidney disease, Glomerulonephritis, Hematuria, Renal insufficiency OMIM:614809
Juvenile Amyotrophic Lateral Sclerosis
Opisthotonus, Dystonia, Clonus, Axial dystonia, Skeletal muscle atrophy, Head titubation, Contrac... ORPHA:300605
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormal vagina morphology, Gonadoblastoma, Abnormality of the uterus, Nephroblas... OMIM:194072
Jeune Syndrome
Nephronophthisis, Aplasia/Hypoplasia of the lungs, Nephropathy, Renal insufficiency ORPHA:474
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens OMIM:300985
46,Xy Sex Reversal 3
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Penoscrotal hypospadias... OMIM:612965
Tetraploidy
Aplasia/Hypoplasia of the lungs, Hydronephrosis, Intrauterine growth retardation, Renal hypoplasi... ORPHA:3305
46,Xy Sex Reversal 4
Hypoplastic labia majora, Hydronephrosis, Renal dysplasia, Gonadal dysgenesis, Ureteropelvic junc... OMIM:154230
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal agenesis, Hydronephrosis, Renal hypoplasia, Cryptorchidism OMIM:618494
Nephronophthisis
Renal insufficiency ORPHA:655
Meckel Syndrome, Type 6
Renal cyst, Absent gallbladder, Horseshoe kidney, Occipital encephalocele, Bile duct proliferatio... OMIM:612284
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Spastic Paraplegia Type 7
Abnormal pyramidal sign, Spastic gait, Lower limb muscle weakness, Ragged-red muscle fibers, Slow... ORPHA:99013
Posterior Urethral Valve
Fetal pyelectasis, Pyelonephritis, Urinary retention, Enuresis nocturna, Dysuria, Hydronephrosis,... ORPHA:93110
Simpson-Golabi-Behmel Syndrome, Type 2
Multicystic kidney dysplasia, Recurrent upper respiratory tract infections, Pneumonia, Micropenis OMIM:300209
X-Linked Adrenoleukodystrophy
Leg muscle stiffness, Incoordination, Paralysis, Paraparesis, Hemiparesis, Progressive spastic pa... ORPHA:43
Congenital Factor V Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Hematochezia, Spontaneous hematomas, G... ORPHA:326
Distal Tetrasomy 15Q
Horseshoe kidney, Intrauterine growth retardation, Patent ductus arteriosus, Hydronephrosis, Abno... ORPHA:314588
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Ectopic kidney, Intrauterine growth retardation, Micropenis, Renal hyp... OMIM:616541
Birt-Hogg-Dube Syndrome
Renal cyst, Renal neoplasm, Multiple pulmonary cysts, Spontaneous pneumothorax, Renal cell carcinoma OMIM:135150
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Flexion contracture, Axial dystonia, Increased variability in muscle fiber diameter, Spastic para... OMIM:619026
Focal Segmental Glomerulosclerosis 6
Nephrotic syndrome, Hematuria, Proteinuria, Chronic kidney disease, Renal tubular atrophy, Focal ... OMIM:614131
Pallister-Hall-Like Syndrome
Micropenis, Occipital encephalocele, Anterior hypopituitarism, Renal dysplasia, Death in infancy,... OMIM:241800
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Vesicoureteral Reflux 3
Hydronephrosis, Vesicoureteral reflux, Hydroureter OMIM:613674
Nephrotic Syndrome, Type 17
Proteinuria, Steroid-resistant nephrotic syndrome, Microscopic hematuria, Stage 5 chronic kidney ... OMIM:618176
Combined Oxidative Phosphorylation Defect Type 7
Abnormal pyramidal sign, Skeletal muscle atrophy, Lower limb muscle weakness, Spastic paraparesis... ORPHA:254930
Diffuse Neonatal Hemangiomatosis
Abnormal vagina morphology, Renal hypoplasia/aplasia, Patent ductus arteriosus, Renal insufficiency ORPHA:2123
Prune Belly Syndrome
Patent ductus arteriosus, Cryptorchidism, Hydronephrosis, Congenital posterior urethral valve, Hy... OMIM:100100
Caudal Duplication
Myelomeningocele, Ureteral duplication, Abnormal penis morphology, Cryptorchidism, Uterus didelph... ORPHA:1756
Maternal Uniparental Disomy Of Chromosome 2
Chordee, Intrauterine growth retardation, Respiratory infections in early life, Miscarriage, Rena... ORPHA:96179
Autosomal Recessive Spastic Paraplegia Type 11
Parkinsonism, Lower limb muscle weakness, Generalized limb muscle atrophy, Ataxia, Paraparesis, P... ORPHA:2822
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle fiber splitting OMIM:609452
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Paralysis, Respiratory paralysis, Increased intramyocellular lipid ... ORPHA:681
Laurence-Moon Syndrome
Cryptorchidism, Displacement of the urethral meatus, Hypoplasia of penis, Renal insufficiency ORPHA:2377
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Distal Trisomy 6P
Intrauterine growth retardation, Hydronephrosis, Renal hypoplasia, Abnormality of the urinary sys... ORPHA:1745
Familial Cervical Artery Dissection
Stroke, Dilatation of the cerebral artery, Transient ischemic attack, Hypertension, Cerebral isch... ORPHA:36382
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Sensory axonal neuropathy, Generalized amyotrophy, Increased variability in muscle fiber diameter... ORPHA:52430
Focal Segmental Glomerulosclerosis 8
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:616032
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in upper limbs, Skeletal muscle atrophy, Hypoglycosylation of alpha-dyst... ORPHA:352479
Nephrotic Syndrome, Type 20
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:301028
Pagod Syndrome
Pulmonary hypoplasia, Pulmonary artery hypoplasia, Abnormal testis morphology, Abnormal morpholog... ORPHA:991
Alport Syndrome
Proteinuria, Mesangial hypercellularity, Thin glomerular basement membrane, Microscopic hematuria... ORPHA:63
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral dysgenesis, Intrauterine growth retardation, Ureteral agenesis OMIM:274265
Nephrotic Syndrome, Type 13