Gene Summary

Name:
ATPase, Cu++ transporting, alpha polypeptide
Synonyms:
Menkes protein,  MNK,  br

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal coat/hair pigmentation Atp7aem1(IMPC)J HEM Early adult 7.25×10-12
abnormal vocalization Atp7aem1(IMPC)J HOM Early adult 2.12×10-10
abnormal coat/ hair morphology Atp7aem1(IMPC)J HEM Late adult 7.55×10-05
abnormal vocalization Atp7aem1(IMPC)J HEM Early adult 2.66×10-10
abnormal coat/hair pigmentation Atp7aem1(IMPC)J HOM Early adult 8.59×10-12

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

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.

Electrocardiogram (ECG)

Waveform Image

16 Images

Eye Morphology

Images Slit Lamp

1 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Atp7a 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.

The table below shows human diseases associated to Atp7a by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Atp7a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Deoxyribose-5-Phosphate Aldolase Deficiency
Abnormal enzyme/coenzyme activity OMIM:125460
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Lactate Dehydrogenase B Deficiency
Reduced lactate dehydrogenase B level OMIM:614128
Hydroxyacyl Glutathione Hydrolase Deficiency
Glyoxalase deficiency OMIM:614033
Cafe-Au-Lait Spots, Multiple
Multiple cafe-au-lait spots OMIM:114030
Lentiginosis, Inherited Patterned
Hypermelanotic macule OMIM:151001
Hairy Palms And Soles
Hypermelanotic macule OMIM:139650
Linear Atrophoderma Of Moulin
Linear hyperpigmentation ORPHA:140933
Dowling-Degos Disease 1
Progressive reticulate hyperpigmentation OMIM:179850
Neurofibromatosis Type 6
Freckling, Multiple cafe-au-lait spots ORPHA:2678
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Moyamoya Disease 5
Moyamoya phenomenon, Ascending tubular aorta aneurysm OMIM:614042
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Vitiligo, Cafe-au-lait spot, Hypopigmented skin patches, Hypermela... OMIM:145250
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Tented Eyebrows
Abnormal hair morphology OMIM:611426
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Aortic Aneurysm, Familial Thoracic 8
Coronary artery aneurysm, Coronary artery dissection, Descending aortic dissection, Ascending aor... OMIM:615436
Alcohol Sensitivity, Acute
Reduced acetaldehyde dehydrogenase level OMIM:610251
Autoimmune Disease, Susceptibility To, 1
Vitiligo OMIM:607836
Book Syndrome
Premature graying of hair OMIM:112300
Osteoarthritis Susceptibility 3
Osteoarthritis, Osteoarthritis of the first carpometacarpal joint, Joint stiffness, Osteoarthriti... OMIM:607850
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Nevus, Epidermal
Melanocytic nevus OMIM:162900
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Ermine Phenotype
Vitiligo, Albinism, White eyebrow, White hair, White eyelashes, Spotty hyperpigmentation OMIM:227010
Aneurysm, Intracranial Berry, 3
Cerebral berry aneurysm OMIM:609122
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Aortic aneurysm, Premature coronary artery atherosclerosis, Thoracic aortic ... OMIM:611788
Mednik Syndrome
Decreased circulating ceruloplasmin concentration, Intrahepatic cholestasis, Decreased circulatin... ORPHA:171851
Glycogen Storage Disease Xiii
Elevated circulating creatine kinase concentration, Increased muscle glycogen content OMIM:612932
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Dowling-Degos Disease 3
Hyperpigmented/hypopigmented macules OMIM:615674
Dyschromatosis Universalis Hereditaria 1
Hyperpigmented/hypopigmented macules OMIM:127500
Dyschromatosis Symmetrica Hereditaria
Hyperpigmented/hypopigmented macules OMIM:127400
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Pseudopili Annulati
Abnormality of the scalp hair, Abnormality of hair texture OMIM:613241
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Copper Deficiency, Familial Benign
Abnormal circulating copper concentration, Decreased circulating copper concentration OMIM:121270
Myopathy, Distal, With Rimmed Vacuoles
EMG: myopathic abnormalities, Scapular winging, Internally nucleated skeletal muscle fibers, Z-ba... OMIM:617158
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Chondrocalcinosis 2
Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy OMIM:118600
Myopathy, Distal, 5
Mildly elevated creatine kinase, Distal amyotrophy, Facial palsy, Rimmed vacuoles, Myopathy, Musc... OMIM:617030
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Premature graying of hair, Intention tremor OMIM:190200
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, ... OMIM:618655
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Coarse metaphyseal trabecularization, Osteopathia striata, Abnormal diaphysis morphology, White f... ORPHA:2779
Hypotrichosis 13
Woolly hair, Sparse and thin eyebrow, Sparse hair OMIM:615896
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Nonaka Myopathy
EMG: myopathic abnormalities, Deposits immunoreactive to beta-amyloid protein, Distal lower limb ... OMIM:605820
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Irida Syndrome
Intrahepatic cholestasis, Decreased circulating copper concentration ORPHA:209981
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin OMIM:617409
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Skeletal muscle at... ORPHA:611
Cog2-Cdg
Decreased circulating ceruloplasmin concentration, Hepatosplenomegaly, Decreased liver function, ... ORPHA:435934
Acatalasemia
Reduced catalase level OMIM:614097
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Aplasia/Hypoplasia of the eyebrow, Gait disturbance, Ataxia, Sparse or absent eyelashes, Abnormal... ORPHA:2891
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Highly elevated creatine kinase, ... OMIM:618848
Familial Calcium Pyrophosphate Deposition
Joint swelling, Chondrocalcinosis, Joint dislocation, Calcification of cartilage, Osteoarthritis,... ORPHA:1416
Uncombable Hair Syndrome 2
Pili canaliculi, Uncombable hair OMIM:617251
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Welander Distal Myopathy
Mildly elevated creatine kinase, Distal amyotrophy, Rimmed vacuoles OMIM:604454
Witkop Syndrome
Nail pits, Small nail, Sparse hair, Ridged nail, Concave nail, Fine hair OMIM:189500
Woolly Hair, Autosomal Recessive 3
Sparse hair, Curly hair, Sparse scalp hair, Trichorrhexis nodosa, Fine hair, Sparse eyelashes OMIM:616760
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Delayed ossification of carpal bones, Premature osteoarthritis, Hyperextensib... OMIM:105835
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign, Elevated ci... OMIM:160120
Genochondromatosis Type 1
Abnormality of the knee, Multiple enchondromatosis ORPHA:85197
Cerebellar Ataxia And Albinism
Head tremor, Albinism, Ataxia OMIM:258300
Kienbock Disease
Limitation of joint mobility, Osteochondritis Dissecans, Osteoarthritis, Abnormality of the wrist ORPHA:97332
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Proximal upper limb amyotrophy, P... OMIM:609115
Uncombable Hair Syndrome 3
Pili canaliculi, Curly hair, Uncombable hair OMIM:617252
Coronary Artery Dissection, Spontaneous
Coronary artery dissection OMIM:122455
Hypotrichosis 7
Woolly hair, Sparse and thin eyebrow, Sparse hair, Sparse eyelashes OMIM:604379
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Coarctation of aorta OMIM:614823
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular dystrophy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Dist... OMIM:601954
Chondrocalcinosis Due To Apatite Crystal Deposition
Osteoarthritis of the small joints of the hand, Costal cartilage calcification, Arthropathy, Chon... OMIM:118610
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Brachydactylous Dwarfism, Mseleni Type
Osteoarthritis of the elbow, Protrusio acetabuli, Stiff shoulders, Hip osteoarthritis, Abnormalit... ORPHA:2619
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Vitiligo, Progressive, With Mental Retardation And Urethral Duplication
Progressive vitiligo OMIM:277465
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Mildly elevated c... ORPHA:602
Brachydactyly, Type C
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... OMIM:113100
Myopathy, Myofibrillar, 5
Elevated circulating creatine kinase concentration, Myofibrillar myopathy, Muscle fiber cytoplasm... OMIM:609524
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Spinal muscular atroph... OMIM:158600
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Mildly elevated creatine kinase, Limb-girdle muscular dystrophy, Muscle fiber inclusion bodies, R... OMIM:615424
Oculopharyngodistal Myopathy 2
EMG: myopathic abnormalities, Increased endomysial connective tissue, Rimmed vacuoles, Elevated c... OMIM:618940
Familial Benign Copper Deficiency
Decreased circulating copper concentration ORPHA:1551
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Abnormali... OMIM:613313
Dyschromatosis Universalis Hereditaria
Freckling, Spotty hypopigmentation, Multiple cafe-au-lait spots, Hypopigmented skin patches, Hype... ORPHA:241
Distal Myopathy, Welander Type
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Mildly elevated creatine kinase, Rim... ORPHA:603
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron, Cho... OMIM:603358
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Dyggve-Melchior-Clausen Disease
Iliac crest serration, Genu valgum, Short thorax, Pectus carinatum, Rhizomelia, Short long bone, ... ORPHA:239
Myopathy, Autophagic Vacuolar, Infantile-Onset
Elevated circulating creatine kinase concentration, Myopathy, Autophagic vacuoles OMIM:609500
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Abnormal circulating copper concentration, Clumsiness, Steppage gait, Impaired vibration sensatio... ORPHA:521411
Deafness, Congenital, With Total Albinism
Albinism OMIM:220900
Spondylometaphyseal Dysplasia, East African Type
Metaphyseal widening, Bell-shaped thorax, Short long bone, Coxa vara, Genu varum, Rounded epiphys... OMIM:611702
Spondylometaphyseal Dysplasia, Type A4
Metaphyseal sclerosis, Metaphyseal irregularity, Osteoporotic metatarsal, Pectus carinatum, Osteo... OMIM:609052
Aceruloplasminemia
Increased circulating ferritin concentration, Dystonia, Decreased circulating copper concentratio... ORPHA:48818
Aneurysm Of Interventricular Septum
Vascular dilatation OMIM:105805
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Deafness, Congenital, With Vitiligo And Achalasia
Vitiligo OMIM:221350
Pulmonary Arteriovenous Malformation
Pulmonary hemorrhage, Pulmonary arteriovenous fistulas, Abnormal bleeding, Palpitations, Dyspnea,... ORPHA:2038
Aortic Aneurysm, Familial Thoracic 4
Ascending aortic dissection, Patent ductus arteriosus, Posterior cerebral artery stenosis, Corona... OMIM:132900
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Gait ataxia, Incoordination, Fair hair OMIM:618808
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Elevated circulating creatine kinase concentration, Flexion contracture, Increased variability in... OMIM:300717
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Proximal amyotrophy, Facial p... OMIM:500002
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Hereditary Myopathy With Early Respiratory Failure
EMG: myopathic abnormalities, Internally nucleated skeletal muscle fibers, Muscle fiber hypertrop... ORPHA:178464
Carnitine Deficiency, Myopathic
Decreased plasma carnitine, Myopathy, Reduced muscle carnitine level OMIM:212160
Giant Axonal Neuropathy 1, Autosomal Recessive
Scoliosis, Talipes equinovarus, Curly hair, Distal amyotrophy, Facial palsy, Distal sensory impai... OMIM:256850
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Genu valgum, Small nail, Acetabular dysplasia, Talipes equinovarus, Coxa valga OMIM:613618
Bronchopulmonary Dysplasia
Pulmonary sequestration, Abnormal lung morphology, Wheezing, Abnormal respiratory system morpholo... ORPHA:70589
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides OMIM:606574
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... ORPHA:170
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Congenital Absence Of Upper Arm And Forearm With Hand Present
Stillbirth, Upper limb phocomelia, Polydactyly, Abnormal thorax morphology, Syndactyly, Abnormal ... ORPHA:294975
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Rimmed vacuoles, Elevated circulating... ORPHA:270
Osteochondrosis Of The Tarsal Bone
Chondritis, Abnormal tarsal ossification, Tarsal sclerosis, Tarsal stippling, Osteochondritis Dis... ORPHA:563991
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased intramyocellular lipid droplets, Mildly elevated creatine kinase, Proximal muscle weakn... ORPHA:457050
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Elevated circulating creatine kinase concentrat... OMIM:253601
Arthritis, Sacroiliac
Sacroiliac arthritis OMIM:108100
Pulmonary Capillary Hemangiomatosis
Clubbing of fingers, Ground-glass opacification, Pulmonary capillary hemangiomatosis, Interlobula... ORPHA:199241
Trichodysplasia-Xeroderma Syndrome
Trichodysplasia, Coarse hair, Sparse scalp hair, Sparse and thin eyebrow, Brittle hair, Alopecia,... ORPHA:3361
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Elev... OMIM:609200
Moynahan Syndrome
Seizure, Cachexia, Sparse hair, Alopecia ORPHA:2574
Tibial Muscular Dystrophy
EMG: myopathic abnormalities, Peroneal muscle atrophy, Increased muscle lipid content, Mildly ele... ORPHA:609
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscular dystrophy, Centrally nucle... OMIM:254110
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis OMIM:271600
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormality of long bone morphology, Abnormality of pelvic girdle bone morphology, Short finger, ... OMIM:259270
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cirrhosis, Hepatocellular necrosis, Abnormality of ... OMIM:231100
Alpha-1-Antitrypsin Deficiency
Wheezing, Chronic pulmonary obstruction, Dyspnea, Panacinar emphysema, Chronic bronchitis OMIM:613490
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Flexion contracture, Increased endomysial connective tissue, Elevated circula... OMIM:617072
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Osteoarthritis With Mild Chondrodysplasia
Hip osteoarthritis, Joint stiffness, Heberden's node, Knee osteoarthritis OMIM:604864
Distal Myopathy With Anterior Tibial Onset
Abnormal circulating creatine kinase concentration, Intrinsic hand muscle atrophy, Weakness of th... ORPHA:178400
Eiken Syndrome
Broad ribs, Delayed ossification of carpal bones, Broad metatarsal, Short middle phalanx of finge... OMIM:600002
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Silver-gray hair, Accumulation of melanosomes in mela... OMIM:607624
Glycoprotein Storage Disease
Gout OMIM:232900
Legg-Calvé-Perthes Disease
Cartilage destruction, Joint dislocation ORPHA:2380
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Congenital muscular dystrophy, Skeletal muscle atrophy, Elevated circulating creatine kinase conc... OMIM:613204
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Broad ribs, Rhizomelia, Short humerus, Short ribs, Short clavicles, Short femoral neck, Prominent... OMIM:610319
Aneurysm, Intracranial Berry, 12
Arterial fibromuscular dysplasia, Internal carotid artery dissection, Cerebral berry aneurysm, Fu... OMIM:618734
Spinocerebellar Ataxia 48
Dystonia, Tremor, Gait ataxia, Chorea, Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Cach... OMIM:618093
Spastic Paraplegia 23, Autosomal Recessive
Vitiligo, Hyperpigmentation in sun-exposed areas, Premature graying of body hair OMIM:270750
Hypotrichosis 14
Sparse body hair, Sparse hair OMIM:618275
Monilethrix
Sparse hair, Nail dysplasia, Brittle hair, Alopecia, Abnormality of hair texture, Nail dystrophy OMIM:158000
Pseudoachondroplasia
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Carpal bone hypoplasia... OMIM:177170
Emphysema, Congenital Lobar
Bronchial cartilage hypoplasia, Respiratory distress OMIM:130710
Woolly Hair, Autosomal Dominant
Dry hair, Abnormal hair morphology, Coarse hair, Slow-growing hair, Woolly hair OMIM:194300
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Patent ductus arteriosus, Coronary... ORPHA:229
Brachydactyly Type A4
Short middle phalanx of the 2nd finger, Shortening of all middle phalanges of the toes, Symphalan... ORPHA:93394
Fibrochondrogenesis
Camptodactyly of finger, Abnormality of the ribs, Broad ribs, Narrow chest, Hypoplastic scapulae,... ORPHA:2021
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Elevated circulating creatine kinase concentration, Proximal muscle weakness in lower limbs, Myop... ORPHA:1878
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Ectodermal Dysplasia 4, Hair/Nail Type
Onycholysis, Absent eyelashes, Congenital onychodystrophy, Absent eyebrow, Brittle hair, Alopecia... OMIM:602032
Idiopathic Bronchiectasis
Respiratory tract infection, Wheezing, Dyspnea, Bronchiectasis, Emphysema, Acute infectious pneum... ORPHA:60033
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Cervical Rib
Cervical ribs OMIM:117900
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Lower limb muscle weakness, ... OMIM:254130
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
EMG: myopathic abnormalities, Facial hypotonia, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Pili Torti
Abnormal eyebrow morphology, Abnormality of the nail, Brittle hair, Alopecia, Abnormality of hair... ORPHA:2889
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Muscle fiber tubular inclusions, Centrally nucleated skeletal muscl... ORPHA:2593
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Glyoxalase deficiency, Reduced glutathione synthetase level OMIM:231900
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Increased serum pyruvate, Increased intramyocellular lipid droplets, Weakness of facial musculature OMIM:619062
Naxos Disease
Palmoplantar keratoderma, Curly hair, Sparse scalp hair, Abnormality of hair texture, Woolly hair ORPHA:34217
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Enlarged joints, Synovitis ORPHA:50809
Familial Clubfoot Due To 17Q23.1Q23.2 Microduplication
Talipes equinovarus, Hypoplastic toenails ORPHA:238578
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Highly elevated creatine kinase, Myopathy, Centrally nucleated skeletal muscle fibers, Increased ... OMIM:618992
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Radioulnar synostosis, Finger syndactyly, Pectus carinatum, Abnormality of the ribs, Clinodactyly... ORPHA:3268
Zinc Deficiency, Transient Neonatal
Decreased serum zinc OMIM:608118
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin, Athetosis, Spasticity OMIM:257800
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Mucolipidosis Iii Alpha/Beta
Irregular carpal bones, Broad ribs, Split hand, Carpal bone hypoplasia, Short ribs, Short long bo... OMIM:252600
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Congenital hepatic fibrosis, Increased serum iron, ... ORPHA:446
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Sparse axillary hair, Coarse hair, Fair hair, Spar... OMIM:278150
Peripheral Dysostosis
Joint stiffness, Osteoarthritis ORPHA:1795
Brachydactyly, Type A1, C
Short middle phalanx of the 2nd finger, Bilateral talipes equinovarus, Short distal phalanx of fi... OMIM:615072
Mass Syndrome
Aortic aneurysm OMIM:604308
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, Ataxia, White forelock OMIM:172850
Angioma Serpiginosum, X-Linked
Fine hair, Sparse hair, Nail dystrophy OMIM:300652
Cardiomyopathy, Dilated, 1B
Ventricular arrhythmia, Vascular dilatation, Impaired myocardial contractility, Congestive heart ... OMIM:600884
Giant Axonal Neuropathy
Scoliosis, Genu valgum, Talipes equinovarus, Difficulty walking, Abnormal hand morphology, Unstea... ORPHA:643
Vacuolar Neuromyopathy
Scapular winging, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder girdle... OMIM:601846
Trichodysplasia-Xeroderma
Trichodysplasia, Sparse hair, Dry hair, Coarse hair, Sparse axillary hair, Slow-growing hair, Spa... OMIM:190360
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
White Forelock With Malformations
Poliosis, White forelock OMIM:277740
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Ehlers-Danlos Syndrome, Hypermobility Type
Joint hypermobility, Joint dislocation, Joint laxity, Osteoarthritis OMIM:130020
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia, EMG: myopathic abnormal... ORPHA:488650
Thanatophoric Dysplasia, Type Ii
Metaphyseal irregularity, Narrow chest, Hypoplastic ilia, Short greater sciatic notch, Wide-cuppe... OMIM:187601
Muscular Dystrophy, Congenital, Merosin-Positive
Congenital muscular dystrophy, Mildly elevated creatine kinase, Flexion contracture, Shoulder gir... OMIM:609456
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Gait ataxia, Weight loss, Seizure, Cachexia, Failure to thrive OMIM:612075
Mueller-Weiss Syndrome
Chondritis, Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteo... ORPHA:566943
Congenital Factor X Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Prolonged bleedi... ORPHA:328
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Myofibrillar myopath... ORPHA:34516
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Finger syndactyly ORPHA:1891
Cardiofaciocutaneous Syndrome 2
Fine hair, Curly hair, Sparse hair, Absent eyebrow OMIM:615278
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Alpha-B Crystallin-Related Late-Onset Myopathy
Abnormal circulating creatine kinase concentration, EMG: myopathic abnormalities, Facial diplegia... ORPHA:399058
Alopecia-Mental Retardation Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Mental Retardation Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Palmoplantar Keratoderma And Woolly Hair
Leukonychia, Sparse scalp hair, Sparse and thin eyebrow, Sparse body hair, Woolly hair, Woolly sc... OMIM:616099
Elejalde Disease
Melanin pigment aggregation in hair shafts, Silver-gray hair, Ataxia, Accumulation of melanosomes... OMIM:256710
Pyknoachondrogenesis
Stillbirth OMIM:265880
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Respiratory insufficiency, Asthma, Hemoptysis, Pulmonary arteri... ORPHA:1164
Jeune Syndrome
Abnormal clavicle morphology, Abnormality of the ribs, Short thorax, Postaxial hand polydactyly, ... ORPHA:474
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Woolly hair, Woolly scalp hair, Alopecia OMIM:601217
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Centrally nucleated skeletal muscle fibers, Scapu... OMIM:608358
Marie Unna Hereditary Hypotrichosis
Coarse hair, Sparse scalp hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of the e... ORPHA:444
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Short thorax, Narrow chest, Bowing of the long bones... ORPHA:1801
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Elevated hepatic transaminase, Splenomegaly ORPHA:75563
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis ORPHA:435804
Arthrogryposis, Distal, Type 1B
Rocker bottom foot, Camptodactyly, Contractures involving the joints of the feet, Joint contractu... OMIM:614335
Vogt-Koyanagi-Harada Disease
Vitiligo, Abnormal eyebrow morphology, Premature graying of hair, Abnormal eyelash morphology, Po... ORPHA:3437
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Clinodactyly, Fine hair, Fragile nails ORPHA:500166
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscular dystrophy, Flexion contracture, Pelvic girdle muscle weakness, Shoulder girdle muscle we... OMIM:603511
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Calf muscle pseudohypert... ORPHA:280333
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Synovitis OMIM:609655
Urocanase Deficiency
Tremor, Blue irides, Ataxia, Fair hair OMIM:276880
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Multiple Epiphyseal Dysplasia Type 1
Genu valgum, Finger joint hypermobility, Knee joint hypermobility, Joint stiffness, Limitation of... ORPHA:93308
Xylt1-Cdg
Broad thumb, Broad ribs, Short long bone, Clinodactyly, Flared metaphysis, Short clavicles, Short... ORPHA:370930
Vein Of Galen Aneurysmal Malformation
Peripheral arteriovenous fistula, Vascular dilatation ORPHA:1053
Hemochromatosis Type 2
Increased circulating ferritin concentration, Elevated hepatic transaminase, Abnormality of iron ... ORPHA:79230
Waardenburg Syndrome, Type 4B
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:613265
Hair Defect With Photosensitivity And Mental Retardation
Sparse hair, Coarse hair, Sparse and thin eyebrow, Brittle hair, Sparse eyelashes OMIM:234030
Takayasu Arteritis
Abnormal pattern of respiration, Hypertensive crisis, Reduced consciousness/confusion, Vascular d... ORPHA:3287
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Aortic aneurysm, Attention deficit hyperactivity disorder ORPHA:261102
Myopathy, Distal, 1
Mildly elevated creatine kinase, Type 1 muscle fiber predominance, Amyotrophy of ankle musculatur... OMIM:160500
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis ORPHA:2206
Epiphyseal Dysplasia, Multiple, 3
Limited elbow extension, Abnormal hip joint morphology, Limited knee extension, Delayed epiphysea... OMIM:600969
Familial Avascular Necrosis Of Femoral Head
Hip osteoarthritis, Limited hip movement ORPHA:86820
Uncombable Hair Syndrome 1
Pili canaliculi, Uncombable hair, Dry hair OMIM:191480
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Sparse hair, Finger syndactyly, Ungual fibroma, Sparse or ab... ORPHA:1433
Ectodermal Dysplasia 7, Hair/Nail Type
Onycholysis, Sparse hair, Sparse and thin eyebrow, Brittle hair, Alopecia, Dystrophic toenail, Dy... OMIM:614929
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse hair, Curly hair, Sparse and thin eyebrow, Brittle hair, Pili torti OMIM:602400
Neurogenic Thoracic Outlet Syndrome
Abnormality of the ribs ORPHA:100073
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Patent ductus arteriosus, Aortic arch aneurysm ORPHA:1455
Leopard Syndrome 2
Cubitus valgus, Curly hair, Cafe-au-lait spot, Short neck, Multiple lentigines OMIM:611554
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Gastrointestinal arteriovenous malformation, Cerebral arteriovenous ... OMIM:187300
Ulnar Hypoplasia With Mental Retardation
Absent toenail, Absent fingernail, Limitation of knee mobility, Bilateral ulnar hypoplasia, Limit... OMIM:276821
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Distal sensory impairment, Rigidity OMIM:617018
Beukes Hip Dysplasia
Osteoarthritis, Shallow acetabular fossae OMIM:142669
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Chromosome 2Q31.1 Duplication Syndrome
Cutaneous syndactyly, Talipes equinovarus OMIM:613681
Arthrogryposis, Distal, Type 2B2
Overlapping fingers, Camptodactyly, Talipes equinovalgus, Adducted thumb, Sandal gap, Ulnar devia... OMIM:618435
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Proximal amyotrophy, Elevated circulating creatine kinase concentration, Myopat... OMIM:618129
Kniest-Like Dysplasia, Lethal
Broad ribs, Metaphyseal irregularity, Narrow chest, Short diaphyses, Rhizomelia, Hypoplastic ilia... OMIM:245190
Lower Motor Neuron Syndrome With Late-Adult Onset
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Proximal muscle weakness in upper li... ORPHA:276435
Telangiectasia, Hereditary Benign
Vascular dilatation OMIM:187260
Mucopolysaccharidosis, Type Vi
Hip dysplasia, Genu valgum, Metaphyseal widening, Prominent sternum, Broad ribs, Metaphyseal irre... OMIM:253200
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Elevated hepatic transaminase, Hyperbilirubinemia, Portal ... OMIM:616278
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Cubitus valgus, Short neck, Abnormal metatarsal morphology, Curly hair, Cuboid-shaped vertebral b... ORPHA:163654
Dysosteosclerosis
Broad ribs, Narrow chest, Progressive bowing of long bones, Short diaphyses, Short sternum, Narro... OMIM:224300
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Gait disturbance, Sparse hair, Ataxia ORPHA:1174
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus, Abnormal lung lobation ORPHA:1705
Surfactant Metabolism Dysfunction, Pulmonary, 4
Ground-glass opacification, Restrictive ventilatory defect, Intraalveolar phospholipid accumulati... OMIM:300770
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Abnormal eyebrow morphology, Irregular hyperpigmentation, Heterochromia... ORPHA:2885
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation OMIM:300719
Dysspondyloenchondromatosis
Genu valgum, Enlarged joints, Generalized joint laxity, Multiple enchondromatosis, Joint dislocat... ORPHA:85198
Ectodermal Dysplasia-Syndactyly Syndrome 1
Hypoplastic toenails, Small nail, Coarse hair, Absent facial hair, Sparse scalp hair, Cutaneous f... OMIM:613573
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Iris transillumination defect, Hypopigmentation of the skin OMIM:619165
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Tremor, Premature graying of hair, Hypertonia, Ataxia, Generalized hype... ORPHA:33445
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Abnormal aortic morphology, Aorto-ventricular tunnel, Aortic... ORPHA:3400
Myopathy, X-Linked, With Postural Muscle Atrophy
Elevated circulating creatine kinase concentration, Scapular winging, Rimmed vacuoles, Flexion co... OMIM:300696
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Mental Retardation, Autosomal Dominant 34
Curly hair, 2-3 toe syndactyly, Coarse hair, Synophrys, Short foot, Broad-based gait OMIM:616351
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Postaxial hand polydactyly, Coarse hair, Brittle hair, Alopecia, Pulmonary artery stenosis, Antev... ORPHA:75389
Schimke Immunoosseous Dysplasia
Bulbous nose, Arteriosclerosis, Coarse hair, Hypertension, Transient ischemic attack, Waddling ga... OMIM:242900
Hyperphenylalaninemia, Bh4-Deficient, D
Hyperphenylalaninemia, Transient hyperphenylalaninemia, Hypertonia, Tremor OMIM:264070
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Broad ribs, Abnormal diaphysis morphology, Short tubular bones of the hand, Overtubulated long bo... ORPHA:85184
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Ataxia, Weight loss, Seizure, Cachexia OMIM:613662
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, E... OMIM:613530
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Thoracolaryngopelvic Dysplasia
Hypoplastic pelvis, Horizontal ribs, Hypoplastic iliac wing, Bell-shaped thorax, Short ribs, Irre... OMIM:187760
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Autophagic vacuoles, Elevated circulating creat... OMIM:608810
Vascular Hyalinosis
Subarachnoid hemorrhage, Vascular dilatation, Premature graying of hair, Hematochezia OMIM:277175
Zebra Body Myopathy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Torticollis, Autophagic vacuoles, N... ORPHA:97240
Chand Syndrome
Nail dysplasia, Curly hair OMIM:214350
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Schneckenbecken Dysplasia
Anterior rib cupping, Lateral clavicle hook, Advanced tarsal ossification, Metaphyseal irregulari... OMIM:269250
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormal ossification involving the femoral head and neck, Osteoarthr... ORPHA:2114
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular septal... OMIM:614370
Horner Syndrome, Congenital
Heterochromia iridis, Paralysis OMIM:143000
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Sclerosteosis 1
2-3 finger syndactyly, Broad ribs, Broad clavicles, Cortically dense long tubular bones, Scleroti... OMIM:269500
Monilethrix
Abnormal eyebrow morphology, Abnormality of the nail, Sparse hair, Abnormal eyelash morphology, S... ORPHA:573
Carvajal Syndrome
Woolly hair, Patchy palmoplantar hyperkeratosis ORPHA:65282
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Gait disturbance, Tremor, Babinski sign OMIM:300660
Spinocerebellar Ataxia 37
Frequent falls, Unsteady gait, Tremor, Ataxia OMIM:615945
Hypotrichosis With Juvenile Macular Degeneration
Abnormality of limb bone morphology, Freckling, Melanocytic nevus, Sparse scalp hair, Brittle hai... ORPHA:1573
Congenital Alpha2-Antiplasmin Deficiency
Persistent bleeding after trauma, Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, H... ORPHA:79
Central Core Disease Of Muscle
Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Type 1 muscle ... OMIM:117000
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Mildly elevated creatine kinase, Tremor OMIM:614369
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Macroglossia, Scapular winging, Limb-girdle muscular dystrophy, Hypoglycosylation of alpha-dystro... OMIM:616052
Autosomal Recessive Spastic Paraplegia Type 23
Vitiligo, Silver-gray hair, Multiple lentigines ORPHA:101003
Aortic Aneurysm, Familial Thoracic 9
Aortic tortuosity, Atrial fibrillation, Thoracic aortic aneurysm, Arachnodactyly, Ascending aorti... OMIM:616166
Finnish Upper Limb-Onset Distal Myopathy
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Mildly elevated creatine kinase, Wea... ORPHA:399086
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Unsteady gait, Frequent falls OMIM:616921
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Type 1 muscle fiber predominance, Distal amyotrophy, Hip contracture,... OMIM:619042
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Lower limb muscle weakness, Myopathy, Upper limb amyotrophy, Rimmed vacuoles, Upper limb muscle w... OMIM:616924
Cranio-Osteoarthropathy
Abnormality of the knee, Joint swelling, Joint stiffness, Eczema, Osteoarthritis, Arthritis ORPHA:1525
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Thoracic hypoplasia, Irregular epiphyses, Narrow iliac wing, Hypoplastic pubic bone, Short long b... OMIM:608728
Spinal Muscular Atrophy, Jokela Type
Tremor, Difficulty walking, Distal sensory impairment, Elevated circulating creatine kinase conce... OMIM:615048
Crandall Syndrome
Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair, Pili torti ORPHA:202
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Hyporeflexia of upper limbs, Distal upper limb muscle weakness, Kn... ORPHA:178145
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
EMG: myopathic abnormalities, Scapular winging, Muscular dystrophy, Centrally nucleated skeletal ... OMIM:608423
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis OMIM:619248
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Left ventricular outflow tract obstruction, Aortic val... OMIM:614980
Heart Defects-Limb Shortening Syndrome
Abnormality of the ribs, Narrow chest, Mesomelic/rhizomelic limb shortening, Death in infancy, Ab... ORPHA:1354
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Limb-girdle muscular dystrophy, Rimmed vacuoles, Elevated circulating creatine kinase concentrati... OMIM:612937
Mitochondrial Myopathy, Infantile, Transient
Decreased plasma carnitine, Increased muscle glycogen content, Macroglossia, Increased muscle lip... OMIM:500009
Ehlers-Danlos Syndrome, Vascular Type
Foot acroosteolysis, Repeated pneumothoraces, Combined cystic and ground-glass pattern on pulmona... OMIM:130050
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Nemaline Myopathy 6
Myopathy, Nemaline bodies, Limb muscle weakness OMIM:609273
Wilson Disease
Cirrhosis, Dystonia, Tremor, Hemolytic anemia, Poor motor coordination, Dysphagia, Hepatocellular... OMIM:277900
Epiphyseal Dysplasia, Multiple, 2
Flattened knee epiphyses, Genu varum, Knee osteoarthritis OMIM:600204
Albinism, Oculocutaneous, Type Vii
Albinism OMIM:615179
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Paralysis Agitans, Juvenile, Of Hunt
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Postaxial hand polydactyly, Broad ribs, Abnormal sternum morphology, Short ribs, Abnormality of t... ORPHA:2519
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Hemiparesis, Ataxia, Paralysis, Confusion, Myoclonus, Babinski sig... OMIM:606777
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Hip dysplasia, Ulnar metaphyseal ir... ORPHA:174
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormality of the ribs, Abnormality of pelvic girdle bone morphology ORPHA:1506
Bazex-Dupré-Christol Syndrome
Sparse hair, Abnormality of finger, Coarse hair, Sparse scalp hair, Sparse and thin eyebrow, Spar... ORPHA:113
Acrocapitofemoral Dysplasia
Narrow chest, Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st... OMIM:607778
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Heterochromia iridis, Premature graying of hair ORPHA:66633
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Prolonged bleeding after surgery, Persistent bleeding after trauma, Joint hemorrhage, Epidural he... ORPHA:465
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Tremor, Bradykinesia, Ankle clonus, Progressive inability to walk, Parkinsonism, Babins... ORPHA:521406
Spondylosis, Cervical
Osteoarthritis OMIM:184300
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Involuntary movements, Craniofacial dystonia, Action... ORPHA:98807
Flynn-Aird Syndrome
Primary adrenal insufficiency, Atherosclerosis, Ataxia, Abnormality of the thyroid gland, Cachexi... ORPHA:2047
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Osteochondrosis Of The Metatarsal Bone
Chondritis, Progressive joint destruction, Joint stiffness, Sclerosis of foot bone, Osteochondros... ORPHA:564003
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Talipes equinovarus, Peroneal muscle atrophy OMIM:181400
Myopathy, Distal, 3
EMG: myopathic abnormalities, Mildly elevated creatine kinase, Muscular dystrophy, Distal amyotro... OMIM:610099
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Scoliosis, Camptodactyly of finger, Sparse hair, Kyphosis, Joint contracture of the 5th finger, C... ORPHA:1883
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Skeletal muscle atrophy, Elevated... OMIM:615422
Hypotrichosis 12
Sparse hair, Dry hair, Slow-growing hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the e... OMIM:615885
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Dystonia, Tremor, Myoclonus OMIM:611092
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Pelvic girdle muscle weakness, Achilles tendon cont... OMIM:603689
Pili Torti, Early-Onset
Dry hair, Hair shafts flattened at irregular intervals and twisted through 180 degrees about thei... OMIM:261900
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis ORPHA:93283
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Fo... ORPHA:464440
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Flexion contracture, Weakness of the intrinsic hand muscles, Type 2 muscle f... OMIM:160565
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Transient hyperphenylalaninemia, Cogwheel rigidity, Gait ata... OMIM:128230
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Craniometadiaphyseal Dysplasia
Genu valgum, Broad ribs, Broad long bones, Flared metaphysis, Genu varum, Coxa valga OMIM:269300
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Lethal Congenital Contracture Syndrome 10
Overlapping fingers, Broad ribs, Narrow chest, Talipes equinovarus, Adducted thumb, Thoracic scol... OMIM:617022
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Hypopigmentation of hair, Albinism, Kyphosis, Hypopigmentation of the skin ORPHA:2786
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Hip osteoarthritis, Osteochondritis Dissecans, Osteoarthritis OMIM:165800
Hypermanganesemia With Dystonia 1
Cirrhosis, Increased total iron binding capacity, Dystonia, Elevated hepatic transaminase, Rigidi... OMIM:613280
Exostoses, Multiple, Type Ii
Genu valgum, Scapular exostoses, Madelung-like forearm deformities, Rib exostoses, Coxa vara, Pro... OMIM:133701
Trichohepatoenteric Syndrome 2
Cirrhosis, Sparse hair, Villous atrophy, Uncombable hair, Colitis, Hepatomegaly, Decreased serum ... OMIM:614602
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Talipes equinovarus ORPHA:85338
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Vascular dilatation, Ataxia OMIM:225755
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Mucoid extracellular matrix accumulation, Asthma, Aortic dissection, Prominent nasal bridge, Aort... OMIM:130090
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase... OMIM:613818
Santos Syndrome
Oligodactyly, Genu valgum, Anonychia, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, M... OMIM:613005
Gracile Syndrome
Increased circulating ferritin concentration, Cirrhosis, Decreased transferrin saturation, Hepati... ORPHA:53693
Sabinas Brittle Hair Syndrome
Sparse hair, Dry hair, Nail dysplasia, Brittle hair, Nail dystrophy OMIM:211390
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal automatism seizure, Focal aware sensory seiz... OMIM:600512
Waardenburg Syndrome, Type 2A
Albinism, Heterochromia iridis, Premature graying of hair, White eyebrow, Synophrys, White eyelas... OMIM:193510
Distal Arthrogryposis Type 1
Overlapping fingers, Rocker bottom foot, Camptodactyly of finger, Abnormal hip bone morphology, U... ORPHA:1146
Igg4-Related Aortitis
Abnormal aortic arch morphology, Weight loss, Thoracic aortic aneurysm, Abnormal common carotid a... ORPHA:449400
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Periventricular Nodular Heterotopia
Abnormal bleeding, Patent ductus arteriosus, Aortic aneurysm, Aortic regurgitation ORPHA:98892
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Adult-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Increased muscle lipid content, Mildly elevated creatine kinase, Fl... ORPHA:171442
Exostoses, Multiple, Type I
Genu valgum, Scapular exostoses, Madelung-like forearm deformities, Rib exostoses, Coxa vara, Pro... OMIM:133700
Pseudoachondroplasia
Distal joint laxity, Limited elbow extension, Genu valgum, Irregular carpal bones, Limited hip ex... ORPHA:750
Leopard Syndrome 3
Cubitus valgus, Short neck, Few cafe-au-lait spots, Curly hair, Low posterior hairline, Multiple ... OMIM:613707
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal irregularity, Metaphyseal cupping of metacarpals, Short long bone, Metaphyseal dyspla... OMIM:250460
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Tremor, Abnormal pyramidal sign, Tetraparesis, Ataxia, Hepatomegaly, Hypertriglyceridem... OMIM:615924
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Lethargy, Apraxia, Chorea, Hypertonia, Central apnea, Ataxia, Hemiparesis, Confusion, P... ORPHA:71277
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Cardiofaciocutaneous Syndrome 3
Scoliosis, Curly hair, Short neck OMIM:615279
Coxopodopatellar Syndrome
Hip dysplasia, Aplasia/Hypoplasia of the patella, Abnormality of pelvic girdle bone morphology, A... ORPHA:1509
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Short nose, Bruising susceptibility, Coarse hair, Nail dysplasia, Dilatation of the cerebral arte... OMIM:612394
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Increased serum zinc OMIM:601979
Waardenburg Syndrome, Type 4A
Heterochromia iridis, Premature graying of hair, White eyebrow, Spastic paraparesis, Ataxia, Whit... OMIM:277580
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea, Pulmonary hypoplasia OMIM:615228
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Exertional dyspnea, Patent ductus arteriosus, Abnormal left ventricular function, Aortic root ane... ORPHA:91387
Spondylometaphyseal Dysplasia, A4 Type
Coxa vara, Flared, irregular rib ends, Short palm, Micromelia ORPHA:168555
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Polycystic liver disease, Vascular dilatation, Respiratory insuffici... ORPHA:2924
Thoracomelic Dysplasia
Genu valgum, Narrow chest, Bell-shaped thorax, Limb undergrowth, Short ribs, Abnormality of the m... ORPHA:1803
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Trichodental Dysplasia
Fine hair, Brittle hair, Sparse hair, Slow-growing hair OMIM:601453
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White forelock, Hypopi... ORPHA:895
Mucopolysaccharidosis Type 6
Abnormality of the metaphysis, Genu valgum, Broad ribs, Epiphyseal dysplasia ORPHA:583
Spondyloepimetaphyseal Dysplasia, Irapa Type
Genu valgum, Abnormality of the ribs, Upper limb undergrowth, Short metatarsal, Hypoplastic pelvi... ORPHA:93351
Combined Oxidative Phosphorylation Deficiency 25
Short nose, Vascular dilatation, Wide nasal bridge, Anteverted nares, Depressed nasal bridge OMIM:616430
Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis
Overlapping fingers, Talipes equinovarus, Externally rotated hips OMIM:616531
Spastic Paraplegia 33, Autosomal Dominant
Talipes equinovarus, Ankle clonus OMIM:610244
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair
Coarse hair, Onychogryposis of toenails, Sparse hair, Dry hair OMIM:164680
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Dysmetria OMIM:617917
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor OMIM:616736
Hereditary Continuous Muscle Fiber Activity
Elevated circulating creatine kinase concentration, Congenital diaphragmatic hernia, Type 1 muscl... ORPHA:972
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Horizontal ribs, Postaxial polydactyly, Bell-shaped thorax, ... OMIM:615633
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Synostosis of carpal bones, Dumbbell-shaped humerus, ... ORPHA:1836
Spinocerebellar Ataxia Type 38
Difficulty walking, Tremor, Gait ataxia ORPHA:423296
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Noonan Syndrome 6
Short neck, Sparse hair, Curly hair, Cafe-au-lait spot, Long eyebrows, Low posterior hairline, Mu... OMIM:613224
Adrenocortical Hypofunction, Chronic Primary Congenital
Hyperpigmentation of the skin OMIM:103230
Temtamy Syndrome
Genu varum, Short toe, Clinodactyly of the 5th finger, Brachydactyly, Aortic aneurysm ORPHA:1777
Distal Myotilinopathy
EMG: myopathic abnormalities, Abnormal muscle fiber myotilin, Multiple joint contractures, Distal... ORPHA:98911
Rin2 Syndrome
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hirsutism, Bruising susceptibili... ORPHA:217335
Noonan Syndrome 5
Cubitus valgus, Small nail, Sparse eyebrow, Curly hair, Cafe-au-lait spot, Fine hair, Short neck,... OMIM:611553
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Bronchial wall thickening, Parase... OMIM:610921
Trichothiodystrophy 2, Photosensitive
Decreased fertility, Brittle hair, Coarse hair, Tiger tail banding OMIM:616390
X-Linked Dominant Chondrodysplasia Punctata
Abnormal vertebral morphology, Rhizomelia, Kyphosis, Scarring alopecia of scalp, Hemiatrophy, Foo... ORPHA:35173
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 7
Female infertility OMIM:618550
X-Linked Intellectual Disability, Stocco Dos Santos Type
Talipes equinovarus, Hirsutism, Congenital bilateral hip dislocation ORPHA:85288
Mucopolysaccharidosis-Plus Syndrome
Hirsutism, Patent ductus arteriosus, Coarse hair, Macrovesicular hepatic steatosis, Low posterior... OMIM:617303
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Increased serum pyruvate, Ragged-red muscle fibers OMIM:545000
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal Z disc mo... OMIM:618654
Progressive Osseous Heteroplasia
Ectopic ossification in muscle tissue, Osteoarthritis, Limitation of joint mobility ORPHA:2762
Myopathy, Scapulohumeroperoneal
Wrist drop, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contrac... OMIM:616852
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Constrictive pericarditis, Congenital finger flexion contractures, Wrist flexion contracture, Gen... OMIM:208250
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, White forelock OMIM:601706
Odontotrichoungual-Digital-Palmar Syndrome
Short distal phalanx of toe, Short 1st metacarpal, Single transverse palmar crease, Short distal ... OMIM:601957
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Joint laxity, Increased susceptibility to fractures, Congenital bilateral hip dislocation, Premat... OMIM:130060
Mucopolysaccharidosis, Type Iiia
Asymmetric septal hypertrophy, Recurrent upper respiratory tract infections, Hirsutism, Coarse ha... OMIM:252900
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Mesomelic arm shortening, Distal ulnar epiphyseal stippling, Broad toe, Delayed ossification of c... OMIM:609616
Osteogenesis Imperfecta, Type X
Genu valgum, Broad ribs, Narrow chest, Bowing of the long bones, Thin ribs, Micromelia OMIM:613848
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Autophagic vacuoles, Elevated circulating creatine kinase concentra... OMIM:609452
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Clinodactyly, Curly hair, Camptodactyly OMIM:617360
Marfanoid Hypermobility Syndrome
Mitral regurgitation, Arachnodactyly, Aortic aneurysm, Aortic regurgitation OMIM:154750
Platelet-Activating Factor Acetylhydrolase Deficiency
Platelet-activating factor acetylhydrolase deficiency OMIM:614278
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Impaired vibratory sensation, Spasticity ORPHA:217012
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Proximal mu... OMIM:618138
Parkinson Disease 15, Autosomal Recessive Early-Onset
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Hypertrichotic Osteochondrodysplasia, Cantu Type
Short hallux, Broad ribs, Narrow chest, Finger syndactyly, Broad hallux phalanx, Short distal pha... ORPHA:1517
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Proximal femoral metaphyseal irregularity, Rhizomelia, Thoracic hypoplasia,... OMIM:602271
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Pelvic girdle muscle weakne