Gene Summary

Name:
BarH-like homeobox 2
Synonyms:
Barx2b,  2310006E12Rik

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
increased circulating aspartate transaminase level Barx2tm1b(EUCOMM)Hmgu HOM Early adult 4.50×10-07
increased circulating bilirubin level Barx2tm1b(EUCOMM)Hmgu HOM Early adult 8.95×10-05
abnormal tail morphology Barx2tm1b(EUCOMM)Hmgu HOM Early adult 2.11×10-09
abnormal gait Barx2tm1b(EUCOMM)Hmgu HOM Early adult 4.81×10-05
preweaning lethality, incomplete penetrance Barx2tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased circulating creatine kinase level Barx2tm1b(EUCOMM)Hmgu HOM Early adult 4.99×10-33
abnormal cornea morphology Barx2tm1b(EUCOMM)Hmgu HOM Early adult 2.45×10-17
abnormal vertebrae morphology Barx2tm1b(EUCOMM)Hmgu HOM   Early adult 3.08×10-06
corneal opacity Barx2tm1b(EUCOMM)Hmgu HOM Early adult 3.48×10-14
abnormal eye morphology Barx2tm1b(EUCOMM)Hmgu HOM Early adult 0.00
eyelids fail to open Barx2tm1b(EUCOMM)Hmgu HOM Early adult 6.07×10-08
narrow eye opening Barx2tm1b(EUCOMM)Hmgu HOM Early adult 6.11×10-21
increased circulating amylase level Barx2tm1b(EUCOMM)Hmgu HOM Early adult 7.17×10-09
absent vibrissae Barx2tm1b(EUCOMM)Hmgu HOM Early adult 5.75×10-07
corneal vascularization Barx2tm1b(EUCOMM)Hmgu HOM Early adult 1.95×10-10
abnormal eyelid morphology Barx2tm1b(EUCOMM)Hmgu HOM Early adult 6.13×10-21
abnormal coat/hair pigmentation Barx2tm1b(EUCOMM)Hmgu HOM Early adult 2.48×10-12

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote Ambiguous
Ear N/A heterozygote Not available
Ear N/A homozygote 0.0% (0 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote Ambiguous
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote 100% (2 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 2)
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote Not available
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 50% (1 of 2)
Mandibular process N/A homozygote 50% (1 of 2)
Maxillary process N/A heterozygote Not available
Maxillary process N/A homozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote 50% (1 of 2)
Skin N/A homozygote 50% (1 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 508)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

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

Echo

M-Mode Images

28 Images

Adult LacZ

LacZ Images Wholemount

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

Auditory Brain Stem Response

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

4 Images

Human diseases caused by Barx2 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 Barx2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Proximal lower limb am... OMIM:158600
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Z-band streaming, Internally nucleated skeletal muscle fibers, Steppage ... OMIM:617158
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Gait disturbance, Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal muscle fib... OMIM:618655
Gne Myopathy
Abnormal right hemidiaphragm morphology, Steppage gait, Lower limb amyotrophy, Hip flexor weaknes... ORPHA:602
Nonaka Myopathy
Gait disturbance, EMG: myopathic abnormalities, Rimmed vacuoles, Deposits immunoreactive to beta-... OMIM:605820
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Falls, Muscle fiber necrosis, Calf muscle hypertrophy, I... OMIM:618848
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Rimmed vacuoles, Muscula... OMIM:601954
Hereditary Myopathy With Early Respiratory Failure
Necrotizing myopathy, Gait disturbance, Muscle fiber hypertrophy, Skeletal muscle atrophy, Intern... ORPHA:178464
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Small for gestational age, Alopecia, Long eyelashes, Severe short stature... OMIM:275400
Welander Distal Myopathy
Steppage gait, Rimmed vacuoles, Distal amyotrophy OMIM:604454
Inclusion Body Myositis
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal muscle atrophy, Quadriceps m... ORPHA:611
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Short stature, Lumbar hyperlordosis, Increased variability in muscle fiber diame... OMIM:619042
Distal Myopathy, Welander Type
Myopathy, Steppage gait, Distal upper limb amyotrophy, EMG: myopathic abnormalities, Rimmed vacuo... ORPHA:603
Nemaline Myopathy 2
Slender build, Calf muscle pseudohypertrophy, Gait disturbance, Weakness of facial musculature, A... OMIM:256030
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... OMIM:619566
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Skeletal muscle atrophy, Hyperpigmentation of the skin, Alopecia, Kyphoscoliosis, Melanocytic nev... OMIM:612079
Mitochondrial Myopathy With Diabetes
Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Ataxia... OMIM:500002
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Pelvic girdle muscle weakness, Autophagic vacuoles, Hip flexor weakness, Facial hypotonia, Should... ORPHA:266
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Oculopharyngodistal Myopathy 2
Weakness of facial musculature, Ptosis, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... OMIM:618940
Myopathy, Myofibrillar, 5
Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Waddling gait, Myofibrillar ... OMIM:609524
Myopathy, Distal, 5
Myopathy, Facial palsy, Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting OMIM:617030
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Pelvic girdle muscle weakness, Proximal lower limb amyo... OMIM:609115
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi... ORPHA:609
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Rimmed vacuoles, Waddling gait, Hyperlordosis, Calf muscle hypertrophy, ... OMIM:617760
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Myopathy, Skeletal muscle atrophy, Congenital muscular dystrophy, Increased variability in muscle... OMIM:613204
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Pelvic girdle muscle weakness, Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Quad... OMIM:254110
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Ankle flexion contracture, Reduced muscle fiber alpha dystroglycan, Waddling gait, Limb-girdle mu... ORPHA:280333
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Proximal amyotrophy, Gait disturbance, Myopathy, Hyperlordosis, Scapular winging, Muscle fiber sp... OMIM:618129
Myasthenic Syndrome, Congenital, 13
Muscle fiber tubular inclusions, Scoliosis, Ptosis OMIM:614750
Muscular Dystrophy, Congenital, Merosin-Positive
Myopathy, Facial palsy, Shoulder girdle muscle weakness, Congenital muscular dystrophy, Flexion c... OMIM:609456
Childhood-Onset Nemaline Myopathy
Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Limb muscle weakness, ... ORPHA:171439
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Short stature, Ptosis, Facial palsy, Type 1 fibers relatively smaller than type 2 fiber... OMIM:300580
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Gait disturbance, Waddling gait, Increased var... ORPHA:1878
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy, Weakness of facial musculature, Limb muscle weakness, Internally nucleate... OMIM:619473
Bethlem Myopathy 2
Myopathy, Kyphosis, Increased variability in muscle fiber diameter, Flexion contracture, Scapular... OMIM:616471
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Central Core Disease Of Muscle
Central core regions in muscle fibers, Ankle flexion contracture, Skeletal muscle atrophy, Weakne... OMIM:117000
Multiminicore Myopathy
Proximal muscle weakness in lower limbs, Abnormal muscle fiber morphology, Myopathy, Minicore myo... ORPHA:598
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Rimmed vacuoles, Waddling gait, Limb-girdle muscular dystrophy, Increased variability i... OMIM:612937
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers, Difficulty walking OMIM:500003
Myopathy, Distal, 1
Toe extensor amyotrophy, Gait disturbance, Ragged-red muscle fibers, Facial palsy, Rimmed vacuole... OMIM:160500
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Macroglossia, Right ventricular hypertrophy, Achilles tendon contracture, Scapular winging, EMG: ... ORPHA:353
Alpha-B Crystallin-Related Late-Onset Myopathy
Autophagic vacuoles, Facial diplegia, EMG: myopathic abnormalities, Difficulty walking, Increased... ORPHA:399058
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Loss of ability to w... ORPHA:34516
Limbal Stem Cell Deficiency
Conjunctival hyperemia, Corneal perforation, Corneal scarring, Opacification of the corneal epith... ORPHA:171673
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Failure to thrive in infancy, Short stature, Increased intramyocellular lipid droplets,... OMIM:619065
Myopathy, Scapulohumeroperoneal
Skeletal muscle atrophy, Wrist drop, Achilles tendon contracture, Facial palsy, Centrally nucleat... OMIM:616852
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in lower limbs, Gait disturbance, Ragged-red muscle fibers, EMG: myopath... ORPHA:276435
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Weakness of facial musculature... ORPHA:457050
Nemaline Myopathy 4
Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Kyphoscoliosis, Waddling gait, Di... OMIM:609285
Myasthenic Syndrome, Congenital, 14
Ragged-red muscle fibers, Waddling gait, Hyperlordosis, Flexion contracture, Scapular winging, Sc... OMIM:616228
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnormal Z disc morp... OMIM:618654
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... ORPHA:206549
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Hyperlordosis, Increased variability in muscle fiber diameter, Flexion contracture, Sco... OMIM:300718
Myopathy, Myofibrillar, 3
Muscle fiber cytoplasmatic inclusion bodies, Achilles tendon contracture, Myofibrillar myopathy, ... OMIM:609200
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Skeletal muscle atrophy, Growth delay, Alopecia, Nail dysplasia, Hypohidrosis, Scoliosis, Delayed... OMIM:615704
Miyoshi Muscular Dystrophy 1
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Tip-toe gait, Distal amyotro... OMIM:254130
Congenital Myopathy With Myasthenic-Like Onset
Gait disturbance, Myopathy, Minicore myopathy, Ptosis, Failure to thrive, Scapular winging, EMG: ... ORPHA:424107
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Triceps weakness, Generalized amyotrophy, Left ventricular hypertrophy, Muscular dystro... ORPHA:86812
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300717
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Weakness of facial mu... OMIM:619477
Merrf
Ataxia, Myopathy, Ragged-red muscle fibers, Short stature ORPHA:551
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Myopathy, Ragged-red muscle fibers, Upper limb amyotrophy, Rimmed vacuoles, Waddling gait, Increa... OMIM:616924
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Ptosis, Rimmed vacuoles ORPHA:270
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Finnish Upper Limb-Onset Distal Myopathy
Weakness of the intrinsic hand muscles, Steppage gait, EMG: myopathic abnormalities, Joint contra... ORPHA:399086
Adult-Onset Nemaline Myopathy
Myopathy, Increased muscle lipid content, EMG: myopathic abnormalities, Bradykinesia, Difficulty ... ORPHA:171442
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Internally nucleated skeletal muscle fibers, Kyphosis, P... OMIM:618138
Rotor Syndrome
Conjugated hyperbilirubinemia, Conjunctival icterus, Hyperbilirubinemia ORPHA:3111
Myopathy, Proximal, With Ophthalmoplegia
Myopathy, Ptosis, Waddling gait, Muscle fiber inclusion bodies, Scapular winging, Scoliosis, Cong... OMIM:605637
Myofibrillar Myopathy 11
Z-band streaming, Generalized amyotrophy, Shoulder girdle muscle atrophy, EMG: myopathic abnormal... OMIM:619178
Distal Myopathy, Tateyama Type
Weakness of the intrinsic hand muscles, Calf muscle hypoplasia, EMG: myopathic abnormalities, Int... ORPHA:488650
Hypotrichosis 4
Sparse eyelashes, Alopecia, Pili torti, Sparse and thin eyebrow, Sparse hair, Sparse body hair OMIM:146550
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Increased intramyocellular lipid droplets, Weakness of facial musculature OMIM:619062
Vernal Keratoconjunctivitis
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal neovascularization, Punctate... ORPHA:70476
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Myopathy, Rimmed vacuoles, Limb-girdle muscular dystrophy, Abnormal morphology of the abdominal m... OMIM:615424
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Shoulder girdle muscle atrophy, Gait disturbance, Shoulder girdle muscle weakness, Increased endo... ORPHA:437572
Hypotrichosis Simplex
Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ... ORPHA:55654
Myopathy, Myosin Storage, Autosomal Dominant
Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centra... OMIM:608358
Tubular Aggregate Myopathy
Type 2 muscle fiber atrophy, Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Incre... ORPHA:2593
Hypotrichosis 5
Sparse eyelashes, Thin eyebrow, Alopecia, Absent pubic hair, Absent axillary hair OMIM:612841
Nemaline Myopathy 6
Nemaline bodies, Myopathy, Gait disturbance, Limb muscle weakness OMIM:609273
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i... OMIM:253601
Atopic Keratoconjunctivitis
Keratoconjunctivitis sicca, Keratitis, Abnormal eyelid morphology, Chemosis, Corneal opacity, Los... ORPHA:163934
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Ptosis OMIM:609283
Mitochondrial Complex I Deficiency, Nuclear Type 23
Hypertrichosis, Dystonia, Skeletal muscle atrophy, Scoliosis OMIM:618244
Galactosialidosis
Abnormality of the vertebral column, Corneal opacity, Abnormal vertebral morphology ORPHA:351
Odonto-Onycho Dysplasia-Alopecia Syndrome
Sparse and thin eyebrow, Alopecia, Hypoplastic toenails, Abnormal fingernail morphology, Sparse h... ORPHA:2722
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Hypopigmented skin patches, Onychogryposis of fingernail, Fingernail dysplasia, Hyperpigmentation... ORPHA:2251
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Pelvic girdle muscle weakness, Facial palsy, Shoulder girdle muscle weakness, Rimmed vacuoles, Mu... OMIM:603511
Myopathy, Congenital, With Fiber-Type Disproportion
Limb joint contracture, Ptosis, Failure to thrive, Facial palsy, Type 1 fibers relatively smaller... OMIM:255310
Hypotrichosis 11
Alopecia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Absent axil... OMIM:615059
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Thoracic kyphoscoliosis, Severe postnatal growth retardation, Alopecia, Telecanthus, Severe short... OMIM:203550
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Pelvic girdle muscle weakness, Achilles tendon contracture, Scapular winging, Quadriceps muscle w... OMIM:603689
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Ptosis, Alopecia, Aplasia/Hypoplasia of the iris, Corneal opacity,... ORPHA:1067
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Gait disturbance, Pelvic girdle muscle weakness, Myopathy, Dystonia, Limb muscle weakness, Should... OMIM:167320
Myopathic Ehlers-Danlos Syndrome
Contractures involving the joints of the feet, Decreased muscle mass, Ankle flexion contracture, ... ORPHA:536516
Myopathy, Distal, 3
Steppage gait, Joint contracture of the hand, EMG: myopathic abnormalities, Rimmed vacuoles, Musc... OMIM:610099
Congenital Muscular Dystrophy, Ullrich Type
Abnormal muscle fiber morphology, Torticollis, Generalized amyotrophy, EMG: myopathic abnormaliti... ORPHA:75840
Myopathy, X-Linked, With Postural Muscle Atrophy
Scapular winging, Flexion contracture, Rimmed vacuoles OMIM:300696
Glycogen Storage Disease Ixb
Short stature, Increased muscle glycogen content OMIM:261750
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Gómez-López-Hernández Syndrome
Alopecia of scalp, Telecanthus, Ataxia, Corneal opacity, Toenail dysplasia ORPHA:1532
Tibial Muscular Dystrophy, Tardive
Steppage gait, Muscular dystrophy, EMG: myopathic abnormalities, Rimmed vacuoles OMIM:600334
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Progressive cerebellar ataxia, Corneal opacity, Ataxia, Corneal dystrophy ORPHA:3177
Myopathy, Myofibrillar, 7
Shoulder flexion contracture, Z-band streaming, Type 2 muscle fiber predominance, Skeletal muscle... OMIM:617114
Congenital Myasthenic Syndromes With Glycosylation Defect
Myopathy, Ragged-red muscle fibers, Ptosis, Muscle fiber tubular inclusions, Facial palsy, Knee f... ORPHA:353327
Alopecia-Intellectual Disability Syndrome
Growth delay, Short stature, Alopecia, Flexion contracture, Sparse scalp hair, Aplasia/Hypoplasia... ORPHA:2850
Dyskeratosis Congenita, Autosomal Recessive 6
Intrauterine growth retardation, Abnormality of skin pigmentation, Failure to thrive, Nail dystro... OMIM:616353
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Myopathy, Type 2 muscle fiber atrophy, Weakness of the intrinsic hand muscle... OMIM:160565
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Facial palsy, EMG: myopathic abnormalities, Rimmed vacuoles, Ne... ORPHA:97240
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Ptosis, Steppage gait, Facial palsy, Nemaline bodies, Flexion contracture, Distal amyotrophy, Hyp... OMIM:607684
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Abnorma... ORPHA:42665
Myopathy, Centronuclear, 1
Skeletal muscle hypertrophy, Ptosis, Facial palsy, EMG: myopathic abnormalities, Hyperlordosis, F... OMIM:160150
Ullrich Congenital Muscular Dystrophy 1
Reduced muscle collagen VI, Torticollis, Failure to thrive, Slender build, Generalized amyotrophy... OMIM:254090
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Alopecia Universalis
Alopecia universalis, Patchy alopecia, Absent eyebrow, Absent eyelashes ORPHA:701
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Weakness of facial musculature, Arthrogryposis multiplex congenita, Ky... OMIM:618484
Proximal Myopathy With Extrapyramidal Signs
Central core regions in muscle fibers, Dystonia, Ptosis, Ataxia, Increased variability in muscle ... ORPHA:401768
Distal Myotilinopathy
Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint c... ORPHA:98911
Thumb Deformity And Alopecia
Increased groin pigmentation with raindrop depigmentation, Alopecia, Short stature OMIM:188150
Rigid Spine Muscular Dystrophy 1
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Short stature, Failure to thr... OMIM:602771
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Increased LDL cholesterol concentration, Developmental cataract, Gait ataxia, Fair hair OMIM:618808
Nemaline Myopathy 7
Nemaline bodies, Gait disturbance, Minicore myopathy, Myofibrillar myopathy OMIM:610687
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Failure to thrive in infancy, Axial dystonia, Growth delay, Long eyelashes, Increased variability... OMIM:619026
Distal Nebulin Myopathy
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Weakness of facial musculature... ORPHA:399103
Alopecia Areata 1
Alopecia totalis, Alopecia universalis, Patchy alopecia, Trachyonychia, Nail pits OMIM:104000
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Dystrophic toenail, Alopecia, Hypopigmentation of the skin, Onychogryposis of ... OMIM:617294
Myopathy, Centronuclear, 2
Ptosis, Generalized amyotrophy, EMG: myopathic abnormalities, Facial palsy, Scapular winging, Kyp... OMIM:255200
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ataxia, Myopathy, Ragged-red muscle fibers OMIM:545000
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Facial palsy, Type 1 muscle fiber predominance ORPHA:178145
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Gait disturbance, Myopathy, Ptosis, Ataxia, Increased variability in muscle fiber diameter OMIM:125250
Alopecia Areata 2
Alopecia universalis, Patchy alopecia, Alopecia totalis, Alopecia of scalp OMIM:610753
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... ORPHA:2334
Minicore Myopathy With External Ophthalmoplegia
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Skeletal muscle atrophy, Ptos... OMIM:255320
Nemaline Myopathy 1
Facial diplegia, Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Nemaline bodies, D... OMIM:609284
Cerebellar Ataxia And Ectodermal Dysplasia
Ataxia, Alopecia, Sparse hair OMIM:212835
Distal Myopathy With Anterior Tibial Onset
Weakness of the intrinsic hand muscles, Tibialis muscle weakness, Finger flexor weakness, Intrins... ORPHA:178400
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Limb muscle weakness, Proximal ... OMIM:613954
Mitochondrial Myopathy, Infantile, Transient
Ragged-red muscle fibers, Increased muscle lipid content, Muscle fiber hypertrophy, Macroglossia,... OMIM:500009
Rhizomelic Chondrodysplasia Punctata, Type 1
Coronal cleft vertebrae, Upslanted palpebral fissure, Rhizomelia, Alopecia, Kyphoscoliosis, Sever... OMIM:215100
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Pelvic girdle muscle weakness, Reduced muscle fiber merosin, Shoulder girdle muscle weakness, Red... ORPHA:34515
Bullous Dystrophy, Hereditary Macular Type
Hyperpigmentation of the skin, Alopecia totalis, Abnormality of the nail, Severe short stature OMIM:302000
Myopathy, Mitochondrial, And Ataxia
Growth delay, Short stature, Distal amyotrophy, Dysmetria, Ataxia, Inability to walk, Thick hair,... OMIM:617675
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Minicore myopathy, Limb muscle weakness, EMG: myopathic abnormalitie... ORPHA:486815
Congenital Multicore Myopathy With External Ophthalmoplegia
Muscle fiber hypertrophy, Abnormal skeletal muscle morphology, Skeletal muscle atrophy, Ptosis, I... ORPHA:98905
Xeroderma Pigmentosum, Complementation Group D
Keratoconjunctivitis sicca, Telangiectasia, Ectropion, Keratitis, Ataxia, Cataract, Corneal neova... OMIM:278730
Flynn-Aird Syndrome
Cachexia, Skeletal muscle atrophy, Alopecia, Kyphosis, Ataxia, Scoliosis ORPHA:2047
King-Denborough Syndrome
Minicore myopathy, Weakness of facial musculature, Ptosis, Short stature, Bilateral ptosis, Failu... OMIM:619542
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse body hair, Sparse scalp hair, Melanocytic nevus, Alopecia universalis, Abnormal eyelash mo... ORPHA:1008
Hidrotic Ectodermal Dysplasia
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Nail dystrophy, A... ORPHA:189
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Ankle flexion contracture, Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Lumbar hy... OMIM:613818
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pelvic girdle muscle weakness, Autophagic vacuoles, EMG: myopathic abnormalities, Shoulder girdle... OMIM:608423
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Skeletal muscle atrophy, Ptosis OMIM:617070
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Spastic gait, Ataxia, Type 1 muscle fiber predominance ORPHA:972
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Ankle flexion contracture, Muscular dystrophy, Increased endomysial connective tissue, Flexion co... OMIM:617072
Congenital Muscular Dystrophy Without Intellectual Disability
Proximal amyotrophy, Facial diplegia, Achilles tendon contracture, Kyphoscoliosis, EMG: myopathic... ORPHA:370980
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Elevated circulating C-reactive protein concentration, Corneal neovas... OMIM:617388
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Ragged-red muscle fibers, Ptosis, Steppage gait, Generalized amyotrophy, Facial palsy, EMG: myopa... OMIM:258450
Mucoepithelial Dysplasia, Hereditary
Chronic monilial nail infection, Nail dystrophy, Alopecia, Coarse hair, Melena, Nail dysplasia, C... OMIM:158310
Malaria
Elevated circulating C-reactive protein concentration, Gait imbalance, Hyperbilirubinemia ORPHA:673
Salih Myopathy
Myopathy, Ptosis, Facial palsy, Calf muscle hypertrophy, Flexion contracture, Centrally nucleated... OMIM:611705
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, EMG: myo... OMIM:609560
Graham Little-Piccardi-Lassueur Syndrome
Sparse axillary hair, Alopecia, Sparse scalp hair, Sparse pubic hair ORPHA:505
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Absent muscle dystrophin expression, Abnormality of the shoulder girdle musculature, Quadriceps m... ORPHA:206546
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:300816
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Myopathy, Increased variability in muscle fiber diameter OMIM:618992
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
Myopathy, Myofibrillar, 2
Autophagic vacuoles, EMG: myopathic abnormalities, Muscular dystrophy, Muscle fiber splitting, Fo... OMIM:608810
Parc Syndrome
Alopecia, Absent eyebrow, Absent eyelashes OMIM:600331
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Myopathy, Muscle fiber atrophy, Muscular dystrophy, Waddling gait, Limb-girdle muscular dystrophy... ORPHA:369840
Typical Nemaline Myopathy
Gait disturbance, Myopathy, Ptosis, Facial diplegia, Facial palsy, Arthrogryposis multiplex conge... ORPHA:171436
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Spotty hypopigmentation, Hypomelanotic macule, Nail dystrophy, Alopecia, Nail dysplasia, Reticula... ORPHA:79397
Nemaline Myopathy 11, Autosomal Recessive
Scapular winging, Nemaline bodies, Waddling gait, Facial palsy OMIM:617336
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myopathy, Pelvic girdle muscle weakness, Waddling gait, Calf muscle hypertrophy, Increased variab... ORPHA:119
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Myopathy, Type 2 muscle fiber atrophy, Ptosis, Limb muscle weakness, Hyper... OMIM:603034
Vacuolar Neuromyopathy
Shoulder girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Centrally nucleated skeleta... OMIM:601846
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Abnormality of the palpebral fissures, Arthrogryposis multiplex congenita, Kyp... ORPHA:178148
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:98855
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation, Ragged-red muscle fibers, Skeletal muscle atrophy, Ataxia, A... ORPHA:480
X-Linked Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:98863
Ullrich Congenital Muscular Dystrophy 2
Kyphoscoliosis, Facial palsy, Congenital muscular dystrophy, Increased variability in muscle fibe... OMIM:616470
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal muscle fiber morphology, Skeletal muscle atrophy, Short stature, Ptosis, Facial palsy, D... ORPHA:3068
Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:98853
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased circulating prolactin concentration, Growth delay, Weakness of facial musculature, Shor... ORPHA:502423
Marinesco-Sjogren Syndrome
Myopathy, Skeletal muscle atrophy, Short stature, Failure to thrive, Rimmed vacuoles, Kyphosis, A... OMIM:248800
X-Linked Centronuclear Myopathy
Weakness of facial musculature, Type 1 fibers relatively smaller than type 2 fibers, Inability to... ORPHA:596
Renpenning Syndrome
Cachexia, Skeletal muscle atrophy, Thin eyebrow, Growth delay, Upslanted palpebral fissure, Alope... ORPHA:3242
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Alopecia, Sparse hair, Dystrophic toenail OMIM:614928
Nemaline Myopathy 3
Limb muscle weakness, Slender build, Facial palsy, EMG: myopathic abnormalities, Arthrogryposis m... OMIM:161800
Infantile Sialic Acid Storage Disease
Ptosis, Epicanthus, Hypopigmentation of the skin, Conjugated hyperbilirubinemia, Congestive heart... OMIM:269920
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Kyphoscoliosis, Increased endomysial connective tissue, Flexion contracture, Congenital muscular ... OMIM:607855
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression, Ptosis ORPHA:330054
Palmoplantar Carcinoma, Multiple Self-Healing
Nail dystrophy, Short neck, Corneal neovascularization, Limbal stem cell deficiency OMIM:615225
Infantile-Onset X-Linked Spinal Muscular Atrophy
Interphalangeal joint contracture of finger, Abnormal muscle fiber morphology, Ankle flexion cont... ORPHA:1145
Cap Myopathy
Abnormal muscle fiber morphology, Generalized amyotrophy, Facial palsy, Lumbar hyperlordosis, Tip... ORPHA:171881
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Highly arched eyebrow, Type 2 muscle fiber predominance, Trichorrhexis nodosa, Hyperhidrosis, Inc... OMIM:619173
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dystonia, Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers, Short stature, Ptosis... OMIM:252011
Scapuloperoneal Spinal Muscular Atrophy
Peroneal muscle atrophy, Scapuloperoneal amyotrophy, Scapular muscle atrophy, Torticollis, Progre... OMIM:181405
Bethlem Myopathy
Generalized amyotrophy, Quadriceps muscle weakness, Camptodactyly of finger, Elbow flexion contra... ORPHA:610
Neutral Lipid Storage Disease With Myopathy
Myopathy, Increased muscle lipid content, Difficulty walking, Short stature OMIM:610717
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Type 2 muscle fiber atrophy, Generalized amyotrophy, Facial palsy, Dis... OMIM:617519
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Congenital alopecia totalis, Alopecia universalis OMIM:104130
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism, Myopathy, Increased variability in muscle fiber diameter OMIM:616816
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation, Conjugated hyperbilirubinemia OMIM:237450
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers, Ptosis ORPHA:663
Mitochondrial Complex I Deficiency, Nuclear Type 25
Failure to thrive, Nemaline bodies, Myopathy, Intrauterine growth retardation OMIM:618246
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Alopecia, Sparse hair OMIM:203600
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Myopathy, Congenital Proximal, With Minicore Lesions
Minicore myopathy, Z-band streaming, Fatty replacement of skeletal muscle, Centrally nucleated sk... OMIM:618823
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Shoulder girdle muscle atrophy, C... OMIM:613530
Dpm3-Cdg
Muscular dystrophy, Pelvic girdle muscle weakness, Calf muscle hypertrophy, Rimmed vacuoles ORPHA:263494
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Pseudoprogeria Syndrome
Growth delay, Short stature, Failure to thrive, Alopecia, Absent eyebrow, Absent eyelashes, Spars... ORPHA:2985
Laing Early-Onset Distal Myopathy
Proximal muscle weakness in lower limbs, Abnormal mitochondria in muscle tissue, Toe extensor amy... ORPHA:59135
Alopecia, Congenital
Alopecia, Sparse hair OMIM:300042
Aniridia 1
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... OMIM:106210
Clouston Syndrome
Fine hair, Sparse eyelashes, Small nail, Onycholysis, Short stature, Absent pubic hair, Brittle h... OMIM:129500
Myopathy, Myosin Storage, Autosomal Recessive
Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fib... OMIM:255160
Morquio Syndrome C
Corneal opacity, Platyspondyly OMIM:252300
Woolly Hair
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Abnormal pupil morp... ORPHA:170
Bachmann-Bupp Syndrome
Sparse eyelashes, Small nail, Ptosis, Absent eyebrow, Downslanted palpebral fissures, Hyperbiliru... OMIM:619075
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Short stature, Generalized amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Waddling ga... ORPHA:52430
Ane Syndrome
Short stature, Hyperpigmented nevi, Hyperpigmentation of the skin, Alopecia, Generalized amyotrop... ORPHA:157954
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Proximal amyotrophy, Scapuloperoneal amyotrophy, Reduced muscle fiber alpha dystroglycan, Inabili... ORPHA:206559
Candidiasis, Familial, 1
Alopecia OMIM:114580
Combined Oxidative Phosphorylation Deficiency 12
Dystonia, Ragged-red muscle fibers, Ptosis, Failure to thrive, Bradykinesia OMIM:614924
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Right ventricular hypertrophy, Muscular dystrophy, Muscle fiber necrosis... OMIM:253700
Autosomal Recessive Progressive External Ophthalmoplegia
Myopathy, Ragged-red muscle fibers, Hand muscle weakness, Ptosis, Facial palsy, Bradykinesia, Shu... ORPHA:254886
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Fine hair, Dystrophic fingernails, Short stature, Dystrophic toenail, Sparse and thin eyebrow, Al... ORPHA:1882
Sézary Syndrome
Skeletal muscle atrophy, Ectropion, Nail dystrophy, Alopecia, Irregular hyperpigmentation ORPHA:3162
Classic Multiminicore Myopathy
Increased muscle lipid content, Weakness of facial musculature, Short stature, Right ventricular ... ORPHA:324604
Central Core Disease
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Myopathy, Kyphoscoliosis, M... ORPHA:597
Brachyolmia Type 1, Toledo Type
Gait disturbance, Intervertebral space narrowing, Irregular vertebral endplates, Kyphoscoliosis, ... OMIM:271630
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Type 2 muscle fiber atrophy, Ptosis, Facial palsy, Arthrogryposis multiplex congenita, Scoliosis OMIM:608930
Johnson Neuroectodermal Syndrome
Failure to thrive, Alopecia, Absent eyebrow, Facial palsy, Absent eyelashes, Downslanted palpebra... ORPHA:2316
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Kid Syndrome
Keratoconjunctivitis sicca, Trichilemmoma, Sparse eyelashes, Corneal erosion, Nail dystrophy, Spa... ORPHA:477
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Macroglossia, Loss of ambulatio... ORPHA:352479
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers, Epicanth... ORPHA:324581
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Proximal 16P11.2 Microduplication Syndrome
Sparse eyelashes, Abnormality of the hairline, Short stature, Hemivertebrae, Failure to thrive, C... ORPHA:370079
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Dermoids Of Cornea
Corneal opacity OMIM:304730
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Intrauterine growth retardation, Short stature, Failure to thrive, Upslanted palpebral fissure, B... ORPHA:50812
Erythrokeratodermia Variabilis
Abnormal hair morphology, Short stature, Weight loss, Alopecia, Abnormal testis morphology, Irreg... ORPHA:317
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79234
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Short stature, Failure to thrive, Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Pr... OMIM:619518
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, EMG: ... ORPHA:171433
Congenital Muscular Dystrophy With Intellectual Disability
Pigmentary retinopathy, Skeletal muscle hypertrophy, Facial palsy, Reduced muscle fiber alpha dys... ORPHA:370968
L-Ferritin Deficiency
Alopecia OMIM:615604
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Congenital alopecia totalis, Nail pits ORPHA:169095
Nemaline Myopathy 5
Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Hip contracture, N... OMIM:605355
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Alopecia, Woolly scalp hair, Decreased testicular size, Woolly hair OMIM:601217
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Macroglossia, Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscular dystrophy, Calf muscl... OMIM:616052
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Ring Dermoid Of Cornea
Abnormality of the corneal limbus, Corneal astigmatism, Conjunctival dermolipoma, Abnormal conjun... OMIM:180550
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Increased variability in muscle fibe... OMIM:616867
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Ptosis, Iris coloboma, Corneal opacity, Cataract ORPHA:1473
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Red hair OMIM:609734
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Hirsutism, Downslanted palpebral fissures, Joint contracture of... OMIM:175700
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Increased total bilirubin, Back pain ORPHA:2924
Native American Myopathy
Abnormality of skeletal muscle fiber size, Skeletal muscle atrophy, Progressive congenital scolio... ORPHA:168572
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Decreased muscle mass, Type 2 muscle fiber atrophy, Skeletal muscle atrophy, Ptosis, Facial palsy... OMIM:608931
Lipoid Proteinosis Of Urbach And Wiethe
Patchy alopecia OMIM:247100
Winchester Syndrome
Corneal opacity OMIM:277950
Ichthyosis, Congenital, Autosomal Recessive 11
Brittle hair, Curly hair, Corneal opacity, Pili torti, Sparse and thin eyebrow, Sparse hair, Blep... OMIM:602400
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Sparse eyelashes, Skeletal muscle atrophy, Growth delay, Short stature, Abnormality of skin pigme... ORPHA:75496
Kerion Celsi
Alopecia ORPHA:499
Anterior Segment Dysgenesis 6
Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... OMIM:617315
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Weakness of the intrinsic hand muscles, Triceps... ORPHA:98913
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Arthrogryposis multiplex congenita, Increased variability in muscle fiber diamet... OMIM:619334
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Short stature, Upslanted palpebral fissure, Alopecia, Short palpebral fissure, Sparse hair OMIM:617763
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Weakness of facial musculature, Failure to thrive, Knee flexion contra... OMIM:619461
Neutral Lipid Storage Disease With Ichthyosis
Myopathy, Ectropion, Ptosis, Short stature, Increased intramyocellular lipid droplets, Alopecia, ... ORPHA:98907
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies OMIM:615426
Ectodermal Dysplasia 4, Hair/Nail Type
Onycholysis, Temporal hypotrichosis, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Na... OMIM:602032
Satoyoshi Syndrome
Alopecia universalis, Alopecia, Skeletal muscle hypertrophy, Short stature OMIM:600705
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers OMIM:616794
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers, Difficulty walking OMIM:619024
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Ragged-red muscle fibers, Skeletal muscle atrophy, Limb muscle weakness, Ptos... OMIM:157640
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Ptosis, Telecanthus, Heterochromia iridis, White forelock, Hypopigmen... ORPHA:895
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Athetosis, Dystonia, Lagopthalmos, Lingual dystonia, Corneal scarring, Bilateral ptosis, Hypotrig... ORPHA:404454
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Short stature, Congenital diaphragmatic hernia, Polycystic ovaries, Downslanted p... ORPHA:284180
Coenzyme Q10 Deficiency, Primary, 9
Dysmetria, Ataxia, Type 2 muscle fiber predominance, Impaired tandem gait OMIM:619028
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Scoliosis OMIM:617066
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Myopathy, Ragged-red muscle fibers, Increased muscle lipid content, Macroglossia, Increased muscl... ORPHA:254864
Spastic Paraplegia Type 7
Ragged-red muscle fibers, Spastic gait, Upper limb muscle weakness, Scoliosis, Attention deficit ... ORPHA:99013
Moynahan Syndrome
Cachexia, Alopecia, Sparse hair, Short stature ORPHA:2574
Chanarin-Dorfman Syndrome
Ataxia, Myopathy, Alopecia, Ectropion OMIM:275630
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Myopathy, Achilles tendon contracture, Decreased cervical spine flexion due to contractures of po... OMIM:310300
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal form of the vertebral bodies, Corneal opacity, Scoliosis ORPHA:2370
Coenzyme Q10 Deficiency, Primary, 4
Ataxia, Increased intramyocellular lipid droplets OMIM:612016
Trichodysplasia-Xeroderma Syndrome
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, S... ORPHA:3361
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle fiber splitting OMIM:609452
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal dystrophy, Corneal opacity, Palpebral edema, Opacification of the cornea... OMIM:608470
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochromia iridis, Ataxia, Irregular ... ORPHA:2885
Familial Partial Lipodystrophy, Dunnigan Type
Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle hypertrophy, Polycystic ovar... ORPHA:2348
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Myopathy, Short stature, Ptosis, Low posterior hairline, Cervical C2/C3 vertebral fusion, Flexion... OMIM:616549
Juvenile Amyotrophic Lateral Sclerosis
Contractures of the joints of the upper limbs, Dystonia, Arm dystonia, Cachexia, Skeletal muscle ... ORPHA:300605
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myopathy, Skeletal muscle atrophy, Myositis, Rimmed vacuoles, Muscle fiber atrophy, Centrally nuc... OMIM:615422
Spastic Ataxia 5, Autosomal Recessive
Dystonia, Skeletal muscle atrophy, Ptosis, Dysmetria, Increased intramyocellular lipid droplets, ... OMIM:614487
Chromosome 8Q21.11 Deletion Syndrome
Ptosis, Epicanthus, Downslanted palpebral fissures, Short palpebral fissure, Opacification of the... OMIM:614230
Myasthenic Syndrome, Congenital, 6, Presynaptic
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita, Ptosis OMIM:254210
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in lower limbs, Ptosis, Abnormality of the foot musculature, EMG: myopat... ORPHA:169189
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Myopathy, Type 2 muscle fiber atrophy, Ptosis, Limb muscle weakness OMIM:605809
Flynn-Aird Syndrome
Ataxia, Kyphoscoliosis, Alopecia, Alopecia of scalp OMIM:136300
Mullegama-Klein-Martinez Syndrome
Low anterior hairline, Short stature, Failure to thrive, Congenital diaphragmatic hernia, Curly e... OMIM:301022
Amish Nemaline Myopathy
Proximal amyotrophy, Shoulder flexion contracture, Hip contracture, EMG: myopathic abnormalities,... ORPHA:98902
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Congenital Ptosis
Increased muscle lipid content, Piebaldism, Congenital bilateral ptosis, Long eyelashes, Telecant... ORPHA:91411
Hypomelanosis Of Ito
Alopecia, Epicanthus, Kyphosis, Macular hypopigmented whorls, streaks, and patches, Scoliosis OMIM:300337
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Low anterior hairline, Ptosis, Neonatal hyperbilirubinemia, Congenital bilateral ptosis, Hyperact... ORPHA:73272
Johnson Neuroectodermal Syndrome
Growth delay, Short stature, Alopecia, Absent eyebrow, Facial palsy, Absent eyelashes, Hypohidros... OMIM:147770
Porphyria Cutanea Tarda
Alopecia, Hyperpigmentation in sun-exposed areas, Facial hypertrichosis, Onycholysis OMIM:176100
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Lipoyltransferase 1 Deficiency
Dystonia, Pulmonary arterial hypertension, Bradycardia, Increased total bilirubin OMIM:616299
Ichthyosis, Congenital, Autosomal Recessive 1
Ectropion, Nail dystrophy, Alopecia, Nail dysplasia, Flexion contracture, Sparse hair OMIM:242300
Mucolipidosis Type Iii
Abnormal form of the vertebral bodies, Corneal opacity, Hyperlordosis ORPHA:577
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Hamartoma of the orbital region, Telecanthus, Sparse eyebrow, Lacrimal pu... ORPHA:2399
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Decreased muscle glycogen content OMIM:611556
Myopathy, Myofibrillar, 8
Central core regions in muscle fibers, Limb muscle weakness, Ptosis, Achilles tendon contracture,... OMIM:617258
Nicolaides-Baraitser Syndrome
Highly arched eyebrow, Curly eyelashes, Alopecia, Abnormal hair pattern, Long eyelashes, Short pa... ORPHA:3051
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Type 2 muscle fiber atrophy, Ptosis OMIM:601462
Pparg-Related Familial Partial Lipodystrophy
Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle hypertrophy, Marked muscular... ORPHA:79083
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Back pain OMIM:174050
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dysplasia, Nail dystrophy, Alopecia totalis, Camptodactyly of finger OMIM:212360
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Myopathy, Ragged-red muscle fibers, Weakness of facial musculature, Ptosis, Generalized amyotroph... ORPHA:352447
Deafness-Craniofacial Syndrome
Alopecia OMIM:125230
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Conjunctivitis, Ectropion, Downslanted palpebral fissures, Long palpebral fissure, Keratitis, Cor... OMIM:602562
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Facial diplegia, Generalized amyotrophy, Facial palsy, Scapular winging, Left ve... ORPHA:169186
Adult-Onset Distal Myopathy Due To Vcp Mutation
Necrotizing myopathy, Weakness of the intrinsic hand muscles, Facial diplegia, EMG: myopathic abn... ORPHA:329478
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Decreased corneal sensation, Corneal stromal edema, Corneal scar... ORPHA:98964
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Limb muscle weakness, Loss of ability to walk, Muscular dystrophy, Diffi... OMIM:616812
Lacrimoauriculodentodigital Syndrome
Keratoconjunctivitis sicca, Lacrimal gland aplasia, Absent lacrimal punctum, Decreased corneal se... ORPHA:2363
Abetalipoproteinemia
Keratoconjunctivitis sicca, Abnormality of retinal pigmentation, Decreased HDL cholesterol concen... ORPHA:14
Olmsted Syndrome 1
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Flexion contracture, Hyperhidrosis, Alo... OMIM:614594
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Myopic astigmatism, Upslanted palpebral fissure, Epicanthus, Downslanted palpebral fissures, Atte... OMIM:152950
Multiple Carboxylase Deficiency
Lethargy, Ataxia, Alopecia, Limb muscle weakness ORPHA:148
Cronkhite-Canada Syndrome
Cachexia, Dystrophic fingernails, Patchy alopecia, Dystrophic toenail, Generalized hyperpigmentat... ORPHA:2930
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Myopathy, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Lower lim... ORPHA:397744
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hyperbilirubinemia OMIM:613673
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Triceps weakness, Kyphoscoliosis, Impaired tandem gait, Intrinsic hand muscle atrophy, Centrally ... OMIM:619574
Trichodysplasia-Xeroderma
Sparse eyelashes, Dry hair, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Sparse pubic ... OMIM:190360
Bathing Suit Ichthyosis
Ectropion, Nail dystrophy, Alopecia, Hypohidrosis, Multiple joint contractures, Sparse hair ORPHA:100976
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Increased VLDL ... OMIM:136120
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Myopathy, Ptosis, Alopecia, Hyperconvex fingernails, Hypoplastic fingernail ORPHA:257
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Ectodermal Dysplasia-Syndactyly Syndrome 1
Small nail, Sparse eyelashes, Sparse and thin eyebrow, Coarse hair, Alopecia, Pili torti, Absent ... OMIM:613573
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Nemaline bodies, Widening of cervical spinal canal, Limb musc... OMIM:606842
Rhizomelic Chondrodysplasia Punctata
Growth delay, Short stature, Rhizomelia, Alopecia, Epicanthus, Spina bifida occulta, Scoliosis, S... ORPHA:177
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse eyelashes, Dystrophic fingernails, Onycholysis, Dystrophic toenail, Brittle hair, Alopecia... OMIM:614929
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Hyperbilirubinemia, Pulmonic stenosis OMIM:614300
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, EMG: myopathic abnormalities, Muscular dystrophy, Inf... OMIM:123320
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Inability to walk, Ataxia OMIM:615350
8p23.1 deletion syndrome
Hyperactivity, Congenital diaphragmatic hernia, Cryptorchidism DECIPHER:39
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Oculomaxillofacial Dysostosis
Upslanted palpebral fissure, Abnormal eyelid morphology, Corneal opacity, Sparse or absent eyelas... ORPHA:1794
Brittle Cornea Syndrome 1
Decreased corneal thickness, Keratoglobus, Epicanthus, Spondylolisthesis, Abnormal cornea morphol... OMIM:229200
Oculocerebrocutaneous Syndrome
Hypopigmented skin patches, Ptosis, Congenital diaphragmatic hernia, Alopecia, Cryptorchidism, Ab... ORPHA:1647
Liver Failure, Infantile, Transient
Hyperbilirubinemia OMIM:613070
Hurler-Scheie Syndrome
Spinal canal stenosis, Abnormal vertebral morphology, Cardiomyopathy, Corneal opacity, Generalize... ORPHA:93476
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Gait disturbance, Alopecia, Truncal ataxia, Distal amyotrophy, Unsteady gait, Limb ataxia, Delaye... ORPHA:412057
Adrenoleukodystrophy
Hyperpigmentation of the skin, Alopecia, Attention deficit hyperactivity disorder, Truncal ataxia... OMIM:300100
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Hemifacial Atrophy, Progressive
Poliosis, Horner syndrome, Kyphosis, Ataxia, Patchy alopecia, Blepharophimosis OMIM:141300
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebral hemorrhage, Developmental cataract, Polycoria, Hypoplasia of the iris, Elevated circulat... OMIM:175780
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia, Gait ataxia, Absent pubertal growth spurt, Short stature ORPHA:438134
Pili Torti
Brittle hair, Alopecia, Abnormal eyebrow morphology, Abnormality of hair texture, Pili torti, Abn... ORPHA:2889
Crandall Syndrome
Fine hair, Brittle hair, Alopecia, Abnormal testis morphology, Pili torti, Aplasia/Hypoplasia of ... ORPHA:202
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Distal upper limb amyotrophy, Shoulder girdle musc... ORPHA:600
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Nail dystrophy, Alopecia, Nail pits OMIM:601705
Peroxisome Biogenesis Disorder 12A (Zellweger)