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Gene: Barx2 MGI:109617

Gene Summary

Name:

BarH-like homeobox 2

Synonyms:

Barx2b, 2310006E12Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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	Allele	Zyg	Life Stage	P Value
absent vibrissae	Barx2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.24×10^-07
increased circulating creatine kinase level	Barx2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	4.99×10^-33
abnormal tail morphology	Barx2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.87×10^-09
abnormal vertebrae morphology	Barx2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.01×10^-06
abnormal coat/hair pigmentation	Barx2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.13×10^-12
increased circulating aspartate transaminase level	Barx2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	4.50×10^-07
increased circulating bilirubin level	Barx2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	8.95×10^-05
abnormal eye morphology	Barx2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
abnormal gait	Barx2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.91×10^-05
preweaning lethality, incomplete penetrance	Barx2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
increased circulating amylase level	Barx2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	6.95×10^-09

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	0.0%
aorta	0.0%
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
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	0.0%
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
oral cavity	0.0%
skin	0.0%
tail	0.0%
tail somite group	0.0%

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

Echo

M-Mode Images

28 Images

View images

Adult LacZ

LacZ Images Wholemount

9 Images

View images

Embryo LacZ

LacZ images wholemount

8 Images

View images

MicroCT E18.5

Embryo reconstruction

2 Images

View images

Auditory Brain Stem Response

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

4 Images

View 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.

Human diseases associated with Barx2 (0 diseases)
Human diseases predicted to be associated with Barx2 (1296 diseases)

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	Matching phenotypes	Source
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant	Waddling gait, Spinal muscular atrophy, Type 2 muscle fiber predominance, Proximal muscle weaknes...	OMIM:158600
Polyglucosan Body Myopathy 2	Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we...	OMIM:616199
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle...	OMIM:618655
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Nonaka Myopathy	Distal amyotrophy, Gait disturbance, EMG: myopathic abnormalities, Distal lower limb muscle weakn...	OMIM:605820
Exercise Intolerance, Riboflavin-Responsive	Ragged-red muscle fibers	OMIM:616839
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ...	OMIM:618848
Welander Distal Myopathy	Distal amyotrophy, Steppage gait, Rimmed vacuoles	OMIM:604454
Myasthenic Syndrome, Congenital, 17	Difficulty walking, Type 1 muscle fiber predominance, Ptosis	OMIM:616304
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H...	ORPHA:178464
Oliver-Mcfarlane Syndrome	Alopecia, Central heterochromia, Small for gestational age, Decreased response to growth hormone ...	OMIM:275400
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Lumbar hyperlordosis, Short stature, Distal amyotrophy, Type 1 muscle fiber pred...	OMIM:619042
Inclusion Body Myositis	Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red...	ORPHA:611
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P...	OMIM:601954
Mitochondrial Myopathy With Diabetes	Ataxia, Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Weakne...	OMIM:500002
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Waddling gait, Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal m...	OMIM:617760
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Un...	OMIM:608099
Myasthenic Syndrome, Congenital, 14	Waddling gait, Scapular winging, Centrally nucleated skeletal muscle fibers, Hyperlordosis, Limb-...	OMIM:616228
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l...	ORPHA:603
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Flexion contracture, Scoliosis, Loss of ambulation, Increased variability in muscle fiber diamete...	OMIM:300717
Myopathy, Distal, 5	Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower...	OMIM:617030
Spinal Muscular Atrophy, Type Iv	Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centr...	OMIM:271150
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Inability to walk, S...	ORPHA:266
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A...	OMIM:619566
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat...	OMIM:181400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Central...	OMIM:254110
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Short stature, Facial palsy	OMIM:616209
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Distal amyotrophy, Fiber type grouping	OMIM:614369
Myopathy, Myofibrillar, 5	Waddling gait, Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber s...	OMIM:609524
Oculopharyngodistal Myopathy 2	Ptosis, Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Wea...	OMIM:618940
Nemaline Myopathy 2	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co...	OMIM:256030
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl...	OMIM:618129
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d...	OMIM:609115
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Scoliosis, Increased ...	OMIM:613204
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elbow contracture, Ankle contracture, Kyphoscoliosis, Limb-girdle muscle weaknes...	OMIM:620386
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16	Waddling gait, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Reduced muscle fiber alpha dy...	ORPHA:280333
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Thenar muscle atrophy, Dysmetria, Premature graying of hair, Dysdiadochokinesis, Distal lower lim...	OMIM:619903
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Scapular winging, Ptosis, Centrally nucleated skeletal m...	OMIM:619733
Myopathy, Vacuolar, With Casq1 Aggregates	Muscle fiber calsequestrin 1-containing inclusion bodies	OMIM:616231
Nemaline Myopathy 5C, Autosomal Dominant	Waddling gait, Skeletal muscle atrophy, Scapular winging, Slender build, Hyperlordosis, Quadricep...	OMIM:620389
Myasthenic Syndrome, Congenital, 13	Muscle fiber tubular inclusions, Scoliosis, Ptosis	OMIM:614750
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Skeletal muscle atrophy, Alopecia, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Growth delay, ...	OMIM:615704
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Congenital Myopathy 6 With Ophthalmoplegia	Waddling gait, Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture,...	OMIM:605637
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Lumbar hyperlordosis, Facial palsy, Ra...	OMIM:160500
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne...	OMIM:615424
Bethlem Myopathy 2	Scapular winging, Kyphosis, Flexion contracture, Myopathy, Scoliosis, Increased variability in mu...	OMIM:616471
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur...	OMIM:620068
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I...	OMIM:117000
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Hyperlordosis, Kyphosis, Flexion contracture, Scoliosis, Increased variability in muscle fiber di...	OMIM:300718
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Short stature, Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Decre...	OMIM:300580
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Waddling gait, Proximal muscle weakness in lower limbs, Myopathy, Gait disturbance, Increased var...	ORPHA:1878
Oculopharyngodistal Myopathy 3	Ptosis, Internally nucleated skeletal muscle fibers, Ataxia, Increased variability in muscle fibe...	OMIM:619473
Multiminicore Myopathy	Proximal muscle weakness in upper limbs, Short stature, Abnormal muscle fiber morphology, Proxima...	ORPHA:598
Vernal Keratoconjunctivitis	Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate...	ORPHA:70476
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Inability to walk, Ragged-red muscle fibers, Increased i...	ORPHA:276435
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S...	OMIM:300696
Myopathy, Sarcoplasmic Body	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus...	OMIM:620286
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in upper limbs, Short stature, Ragged-red muscle fibers, Proximal muscle...	ORPHA:457050
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated...	OMIM:616852
Atopic Keratoconjunctivitis	Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s...	ORPHA:163934
Rotor Syndrome	Conjugated hyperbilirubinemia, Conjunctival icterus, Hyperbilirubinemia	ORPHA:3111
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Muscular dystrophy, Loss of ambulation, Increased variability in muscle ...	OMIM:253601
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Waddling gait, Unsteady gait, Myopathy, Limb-girdle muscular dystrophy, Increased variability in ...	OMIM:612937
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival...	ORPHA:98957
Congenital Myopathy With Myasthenic-Like Onset	Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Gait disturbance, Type 1...	ORPHA:424107
Childhood-Onset Nemaline Myopathy	Waddling gait, Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized...	ORPHA:171439
Congenital Myopathy 23	Waddling gait, Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Flexion contracture, Fa...	OMIM:609285
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ...	ORPHA:34516
Galactosialidosis	Abnormality of the vertebral column, Corneal opacity, Abnormal vertebral morphology	ORPHA:351
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ...	ORPHA:399058
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Broad-based gait, Lumbar hyperlor...	ORPHA:353
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Ptosis, Facial palsy, Flexion contracture, Knee flexion contracture, Myo...	OMIM:616313
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe...	ORPHA:1067
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Ataxia, Pigmentary retinopathy, Long eyelashes, Sparse hair, Neonatal hyperbilirubinemia	ORPHA:3363
Tietz Syndrome	Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Abnormal anterior cham...	ORPHA:42665
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Waddling gait, Lumbar hyperlordosis, Centrally nucleated skeletal muscle fibers, Limb-girdle musc...	ORPHA:86812
Distal Myopathy With Anterior Tibial Onset	Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h...	ORPHA:178400
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Epicanthus, Failure to thrive, Elbow contracture, Cent...	OMIM:620310
Myopathy, Myofibrillar, 3	Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic...	OMIM:609200
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Ataxia, Short stature, Failure to thrive in infancy, Increased intramyocellular lipid droplets, I...	OMIM:619065
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno...	OMIM:618654
Miyoshi Muscular Dystrophy 1	Distal amyotrophy, Tip-toe gait, Muscular dystrophy, Lower limb muscle weakness, Deposits immunor...	OMIM:254130
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy...	OMIM:619178
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia	Increased LDL cholesterol concentration, Fair hair, Gait ataxia, Developmental cataract	OMIM:618808
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Progressive cerebellar ataxia, Corneal opacity, Corneal dystrophy, Ataxia	ORPHA:3177
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Hyperlordosis, Flexion contracture, Muscl...	OMIM:253700
Sandhoff Disease, Adult Form	Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Gait a...	ORPHA:309169
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract, Hyperbilirubinemia	OMIM:618660
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc...	OMIM:619477
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Skeletal muscle atrophy, Alopecia, Limb joint contracture, Short stature, Kyphoscoliosis, Melanoc...	OMIM:612079
Merrf	Myopathy, Ragged-red muscle fibers, Ataxia, Short stature	ORPHA:551
Oculopharyngeal Muscular Dystrophy	Abnormal muscle fiber morphology, Ragged-red muscle fibers, Myopathy, Rimmed vacuoles, Ptosis	ORPHA:270
Nemaline Myopathy 6	Skeletal muscle atrophy, Myopathy, Gait disturbance, Limb muscle weakness, Nemaline bodies	OMIM:609273
Congenital Myopathy 3 With Rigid Spine	Failure to thrive, Decreased body weight, Short stature, Facial palsy, Centrally nucleated skelet...	OMIM:602771
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Waddling gait, Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal musc...	OMIM:608358
Gómez-López-Hernández Syndrome	Telecanthus, Corneal opacity, Ataxia, Alopecia of scalp, Toenail dysplasia	ORPHA:1532
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Steppage gait, Type 1 mus...	OMIM:608340
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Waddling gait, Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb...	OMIM:616924
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Kyphoscoliosis, Weakness of facial musculature, Centrally nucleated sk...	OMIM:618484
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Short stature, Scarring alopecia of scalp, Motheaten muscle fibers, Nail dystrophy, Muscular dyst...	OMIM:226670
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Inclusion Body Myositis	Inflammatory myopathy, Rimmed vacuoles	OMIM:147421
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Hand muscle atrophy, Facial palsy, Flexion contracture, Distal amyotrophy, Steppage gait, Gait di...	OMIM:607684
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Lumbar hy...	OMIM:167320
Myasthenic Syndrome, Congenital, 12	Waddling gait, Facial palsy, Ragged-red muscle fibers, Proximal amyotrophy, Ptosis	OMIM:610542
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculatu...	OMIM:617069
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe...	OMIM:618138
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Severe short stature, Hyperpigmentation of the skin, Camptodactyly of finger, Hypopigme...	ORPHA:2251
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy, Ptosis	OMIM:609283
Myopathy, Distal, Tateyama Type	Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ...	OMIM:614321
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Sparse hair, Spar...	ORPHA:2722
Rhabdomyolysis, Susceptibility To, 1	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,...	OMIM:620235
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ...	ORPHA:2593
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus...	ORPHA:488650
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Thoracic kyphoscoliosis, Alopecia, Telecanthus, Severe short stature, Flexion contracture, Severe...	OMIM:203550
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Ptosis, Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: m...	OMIM:608423
Congenital Myopathy 10A, Severe Variant	Facial palsy, Camptodactyly of finger, Increased variability in muscle fiber diameter, Muscle fib...	OMIM:614399
Congenital Myopathy 18	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Scoliosis, Incr...	OMIM:620246
Winchester Syndrome	Kyphosis, Corneal opacity, Hirsutism	OMIM:277950
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Hyperlordosis, Intrinsic ha...	OMIM:620285
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Inability to walk, Muscular ...	OMIM:617066
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Xeroderma Pigmentosum, Complementation Group D	Cataract, Entropion, Ataxia, Keratitis, Telangiectasia, Choreoathetosis, Keratoconjunctivitis sic...	OMIM:278730
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Steppage gait, Difficulty wa...	ORPHA:399086
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Skeletal muscle atrophy, Ataxia, Inability to walk, Type 1 muscle fiber predominance, Failure to ...	OMIM:618276
Myopathy, Tubular Aggregate, 1	Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi...	OMIM:160565
Congenital Myopathy 4A, Autosomal Dominant	Lumbar hyperlordosis, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle f...	OMIM:255310
Nemaline Myopathy 7	Waddling gait, Lumbar hyperlordosis, Kyphoscoliosis, Fatty replacement of skeletal muscle, Knee f...	OMIM:610687
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari...	OMIM:608807
Adult-Onset Nemaline Myopathy	Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Type 1...	ORPHA:171442
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter	OMIM:302045
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa...	OMIM:611705
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Severe X-Linked Mitochondrial Encephalomyopathy	Skeletal muscle atrophy, Increased variability in muscle fiber diameter	ORPHA:238329
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Waddling gait, Facial palsy, Flexion contracture, Shoulder girdle muscle weakness, Muscular dystr...	OMIM:603511
Cardiomyopathy, Dilated, 1X	Calf muscle hypertrophy, Increased variability in muscle fiber diameter	OMIM:611615
Thumb Deformity And Alopecia	Alopecia, Short stature, Increased groin pigmentation with raindrop depigmentation	OMIM:188150
Congenital Myasthenic Syndromes With Glycosylation Defect	Waddling gait, Scapular winging, Lumbar hyperlordosis, Facial palsy, Generalized weakness of limb...	ORPHA:353327
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Short stature, Flexion contracture, Growth delay, Scoliosis, Sparse ...	ORPHA:2850
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Zebra Body Myopathy	Waddling gait, Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle...	ORPHA:97240
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod...	OMIM:617294
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ...	OMIM:603689
Malaria	Hyperbilirubinemia, Gait imbalance, Elevated circulating C-reactive protein concentration	ORPHA:673
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at...	ORPHA:98905
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Autophagic vacuoles	OMIM:609500
Myopathy, Distal, 3	Distal amyotrophy, Steppage gait, Muscular dystrophy, EMG: myopathic abnormalities, Joint contrac...	OMIM:610099
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Abnormal muscle fiber morphology, Kyphosis, Flexion contracture, Elbow flexion contr...	ORPHA:75840
Autoinflammation With Arthritis And Dyskeratosis	Keratoconjunctivitis sicca, Elevated circulating C-reactive protein concentration, Corneal neovas...	OMIM:617388
Tibial Muscular Dystrophy, Tardive	EMG: myopathic abnormalities, Steppage gait, Muscular dystrophy, Rimmed vacuoles	OMIM:600334
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Abnormal eyelash morphology, Melanocytic nevus, Sparse body hair, Alopecia uni...	ORPHA:1008
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul...	OMIM:617114
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Myopathy, Ragged-red muscle fibers, Ataxia	OMIM:545000
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c...	ORPHA:536516
Distal Myotilinopathy	Multiple joint contractures, Loss of ability to walk in first decade, Distal amyotrophy, Difficul...	ORPHA:98911
Moderate Multiminicore Disease With Hand Involvement	Facial palsy, Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance	ORPHA:178145
Flynn-Aird Syndrome	Skeletal muscle atrophy, Alopecia, Ataxia, Cachexia, Kyphosis, Scoliosis	ORPHA:2047
Bullous Dystrophy, Hereditary Macular Type	Severe short stature, Hyperpigmentation of the skin, Alopecia totalis, Abnormality of the nail	OMIM:302000
Myopathy, Centronuclear, 2	Waddling gait, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Hyperl...	OMIM:255200
Distal Nebulin Myopathy	Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m...	ORPHA:399103
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers, Ptosis	OMIM:617070
Edinburgh Malformation Syndrome	Frontal hirsutism, Neonatal hyperbilirubinemia	OMIM:129850
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Ptosis, Facial palsy, Centrally nucleated skeletal muscle fibers, Increa...	OMIM:255320
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia, Severe short stature, Rhizomelia, Kyphoscoliosis, Flexion contracture, Upslanted palpeb...	OMIM:215100
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Congenital Myopathy 14	Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ...	OMIM:618414
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc...	OMIM:612999
Mucoepithelial Dysplasia, Hereditary	Alopecia, Cataract, Keratoconjunctivitis, Melena, Coarse hair, Nail dystrophy, Opacification of t...	OMIM:158310
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:1490
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9	Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Ankle flexion contracture, Limb-gi...	OMIM:613818
Hereditary Continuous Muscle Fiber Activity	Ataxia, Spastic gait, Congenital diaphragmatic hernia, Type 1 muscle fiber predominance	ORPHA:972
Oculopharyngodistal Myopathy 4	Ptosis, Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscl...	OMIM:619790
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Hyperlordosis, Fatty replacement of skeletal muscle, Achilles tendon contractu...	OMIM:620249
Myopathy, Mitochondrial, And Ataxia	Ataxia, Thick hair, Short stature, Inability to walk, Dysmetria, Limb ataxia, Growth delay, Pigme...	OMIM:617675
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Kyphosis, Flexion contractu...	OMIM:254090
Mitochondrial Myopathy, Infantile, Transient	Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen...	OMIM:500009
King-Denborough Syndrome	Lumbar hyperlordosis, Short stature, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, ...	OMIM:619542
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Inability to walk, Increased variability in muscle fiber diameter, Ataxia, Gait ataxia	OMIM:617915
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, Telecanthus, Hypermelanotic macule, White hair, Blue irides, Premat...	OMIM:619947
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Weakness of facial musculature, Increased endomysial connective tissue, Increased variability in ...	OMIM:620265
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Cryptorchidi...	ORPHA:486815
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Inability to walk, Ragged-red muscle fibers, Ataxia, Athetosis	OMIM:615159
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Waddling gait, Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Shoulder girdle ...	ORPHA:34515
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l...	ORPHA:59135
Graham Little-Piccardi-Lassueur Syndrome	Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair	ORPHA:505
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Mixed hypo- and hyperpigmentation of the skin, Hypermelanotic macule, Reticulated skin ...	ORPHA:79397
Muscle Filaminopathy	Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m...	ORPHA:171445
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Failure to thrive in infancy, Flexion contracture, Growth delay, Long eyelashes, Scoliosis, Incre...	OMIM:619026
Mitochondrial Complex I Deficiency, Nuclear Type 21	Ataxia, Ragged-red muscle fibers, Growth delay, Myopathy, Difficulty walking	OMIM:618242
Combined Oxidative Phosphorylation Deficiency 6	Skeletal muscle atrophy, Ragged-red muscle fibers	OMIM:300816
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Myopathy, Gait disturbance, Increased variability in muscle fiber diameter, Ptosis	OMIM:125250
Hijazi-Reis Syndrome	Astigmatism, Gait disturbance, Iris coloboma, Hyperbilirubinemia	OMIM:301094
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia, Abnormality of skin pigmentation	OMIM:237450
Woolly Hair	Hypopigmentation of hair, Cataract, Slow-growing hair, Brittle hair, Abnormality of hair texture,...	ORPHA:170
Infantile Sialic Acid Storage Disease	Epicanthus, Conjugated hyperbilirubinemia, Congestive heart failure, Fair hair, Hypopigmentation ...	OMIM:269920
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Hyperlordosis, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increase...	OMIM:613157
Congenital Muscular Dystrophy Without Intellectual Disability	Reduced muscle fiber alpha dystroglycan, Kyphoscoliosis, Fatty replacement of skeletal muscle, Ac...	ORPHA:370980
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia	OMIM:600331
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low...	OMIM:613954
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Crigler-Najjar Syndrome Type 2	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79235
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu...	OMIM:601846
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers	OMIM:618992
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Abnormality of retinal pigmentation, Ataxia, Ragged-red muscle fibers, A...	ORPHA:480
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Bilateral ptosis, Corneal erosion, Hypop...	OMIM:106210
Congenital Myopathy 15	Waddling gait, Fatty replacement of skeletal muscle, Increased variability in muscle fiber diamet...	OMIM:620161
Palmoplantar Carcinoma, Multiple Self-Healing	Corneal neovascularization, Short neck, Limbal stem cell deficiency, Nail dystrophy	OMIM:615225
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Skeletal muscle atrophy, Epicanthus, Severe short statur...	ORPHA:3242
Proximal Myopathy With Extrapyramidal Signs	Ataxia, Centrally nucleated skeletal muscle fibers, Difficulty walking, Increased variability in ...	ORPHA:401768
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased variability in muscle fiber diameter, Failure to thrive	OMIM:613752
Myasthenic Syndrome, Congenital, 5	Decreased muscle mass, Hyperlordosis, Limb muscle weakness, Myopathy, Type 1 muscle fiber predomi...	OMIM:603034
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Morquio Syndrome C	Platyspondyly, Corneal opacity	OMIM:252300
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ...	OMIM:310440
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7	Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,...	OMIM:616052
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Decreased cervical spine flexion due to contractures of posterior cervical muscles, Waddling gait...	ORPHA:98855
X-Linked Emery-Dreifuss Muscular Dystrophy	Decreased cervical spine flexion due to contractures of posterior cervical muscles, Waddling gait...	ORPHA:98863
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Skeletal muscle atrophy, Short stature, Facial palsy, Abnormal muscle fiber morphology, Hyperlord...	ORPHA:3068
X-Linked Centronuclear Myopathy	Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Inability to walk, Ty...	ORPHA:596
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Thoracic scoliosis, Lumbar hyperlordosis, Quadriceps muscle weakness, Inability to walk, Elbow fl...	ORPHA:206546
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,...	OMIM:616812
Emery-Dreifuss Muscular Dystrophy	Decreased cervical spine flexion due to contractures of posterior cervical muscles, Waddling gait...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Decreased cervical spine flexion due to contractures of posterior cervical muscles, Waddling gait...	ORPHA:98853
Congenital Myopathy 2A, Typical, Autosomal Dominant	Waddling gait, Facial palsy, Hyperlordosis, Limb muscle weakness, Type 1 muscle fiber predominanc...	OMIM:161800
Cholestasis, Progressive Familial Intrahepatic, 12	Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia	OMIM:620010
Brachyolmia Type 1, Toledo Type	Back pain, Kyphoscoliosis, Short neck, Irregular vertebral endplates, Squared-off platyspondyly, ...	OMIM:271630
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Failure to thrive, Left ventricular noncompaction...	OMIM:617228
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Thoracic scoliosis, Muscle fiber hyaline bodies, Short stature, Centrally nucleated skeletal musc...	OMIM:255160
Typical Nemaline Myopathy	Waddling gait, Facial palsy, Hyperlordosis, Limb-girdle muscle weakness, Kyphosis, Flexion contra...	ORPHA:171436
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Skeletal muscle atrophy, Broad-based gait, Ataxia, Bilateral ptosis, Ragged-red muscle fibers, Un...	OMIM:616479
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Facial palsy, Bilateral ptosis, Ragged-red muscle fibers, Increased vari...	OMIM:258450
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Waddling gait, Broad-based gait, Calf muscle hypertrophy, Myopathy, Difficulty walking, Pelvic gi...	ORPHA:119
Hypercholanemia, Familial, 2	Increased serum bile acid concentration, Unconjugated hyperbilirubinemia	OMIM:619256
Marinesco-Sjogren Syndrome	Skeletal muscle atrophy, Ataxia, Short stature, Centrally nucleated skeletal muscle fibers, Kypho...	OMIM:248800
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Limb-girdle muscle weakness, Flexi...	OMIM:609308
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Increased serum bile acid concentration	OMIM:619874
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy, Kypho...	OMIM:607855
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Kid Syndrome	Sparse eyelashes, Keratitis, Posterior blepharitis, Corneal erosion, Sparse eyebrow, Scarring alo...	ORPHA:477
Myoclonus, Intractable, Neonatal	Increased variability in muscle fiber diameter, Athetosis, Ptosis	OMIM:617235
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Cap Myopathy	Thoracic scoliosis, Lumbar hyperlordosis, Facial palsy, Abnormal muscle fiber morphology, Lower l...	ORPHA:171881
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Cryptorchidism, Kyphosis, Flexion contracture, Abnormality of the palpebral fissures, Scoliosis, ...	ORPHA:178148
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Loss of ability to walk in early childhood, Inability to walk, Ragged-red muscle fibers, Limb mus...	OMIM:609560
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Spa...	OMIM:602400
Myopathy, Centronuclear, 4	Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers	OMIM:614807
Combined Oxidative Phosphorylation Deficiency 8	Increased variability in muscle fiber diameter, Failure to thrive	OMIM:614096
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Short stature, Thick hair, Increased variability in muscle fiber diameter, Dysmetria, Increased m...	ORPHA:502423
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Facial palsy, Ankle flexion contracture, Type 1 muscle fiber atrophy, Choreoathetosis, Distal amy...	OMIM:617519
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Corneal opacity	ORPHA:2432
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle...	OMIM:181405
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Cryptorchidism,...	OMIM:618823
Ullrich Congenital Muscular Dystrophy 2	Facial palsy, Kyphoscoliosis, Flexion contracture, Increased variability in muscle fiber diameter...	OMIM:616470
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Highly arched eyebrow, Hyperhidrosis, Type 2 muscle fiber predominance, Increased variability in ...	OMIM:619173
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Ataxia, Rhabdomyolysis, Ragged-red muscle fibers, Choreoathetosis, Scoliosis, Weakness of facial ...	OMIM:618416
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox...	OMIM:614302
Congenital Myopathy 22A, Classic	Waddling gait, Hip contracture, Scapular winging, Thoracic scoliosis, Centrally nucleated skeleta...	OMIM:620351
Muscular Dystrophy, Limb-Girdle, Type 1H	Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ...	OMIM:613530
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Short stature, Spa...	OMIM:129500
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Short stature, Centrally nucleated skeletal muscle fibers, Scoliosis, Loss of ambulation, Failure...	OMIM:619518
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Hypotonia, Infantile, With Psychomotor Retardation	Cryptorchidism, Myopathy, Increased variability in muscle fiber diameter	OMIM:616816
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Ptosis, Abnormal muscle fiber protein expression	ORPHA:330054
Ane Syndrome	Alopecia, Multiple joint contractures, Short stature, Anterior pituitary hypoplasia, Decreased re...	ORPHA:157954
Crigler-Najjar Syndrome Type 1	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79234
Waardenburg Syndrome Type 2	Telecanthus, Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, Whi...	ORPHA:895
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Sparse eyebrow, Growth delay, Decrease...	ORPHA:2985
Bethlem Myopathy	Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ...	ORPHA:610
Myopathy, Myofibrillar, 2	Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati...	OMIM:608810
Harel-Yoon Syndrome	Corneal opacity, Ataxia, Inability to walk, Developmental cataract, Upslanted palpebral fissure, ...	OMIM:617183
Glutathione Peroxidase Deficiency	Neonatal hyperbilirubinemia	OMIM:614164
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Posterior embryotoxon, Iris coloboma, Ptosis	ORPHA:1473
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex...	ORPHA:1145
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617072
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn...	OMIM:300559
Candidiasis, Familial, 1	Alopecia	OMIM:114580
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Short stature, Sparse eyebrow, Fine hair, Melanocytic nevus, Hypohid...	ORPHA:1882
Central Core Disease	Multiple joint contractures, Kyphoscoliosis, Myopathy, Type 1 muscle fiber predominance, Pelvic g...	ORPHA:597
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ataxia, Short stature, Ragged-red muscle fibers, Flexion contracture, Pigmentary retinopathy, Lef...	OMIM:252011
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Central core regions in muscle fibers, Muscular dystrophy	OMIM:159050
Spinocerebellar Ataxia 28	Ragged-red muscle fibers, Limb ataxia, Gait ataxia, Lower limb hypertonia, Ptosis	OMIM:610246
Sézary Syndrome	Skeletal muscle atrophy, Alopecia, Nail dystrophy, Irregular hyperpigmentation, Ectropion	ORPHA:3162
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Abnormal eyelash morphology, Hypop...	ORPHA:2885
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Inability ...	ORPHA:206559
Striatonigral Degeneration, Infantile, Mitochondrial	Paroxysmal choreoathetosis, Ragged-red muscle fibers, Difficulty walking	OMIM:500003
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Ragged-red muscle fibers, Growth delay, Generalized amyotrophy, Failure to thrive, Ptosis	OMIM:613561
Jaundice, Familial Obstructive, Of Infancy	Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Crigler-Najjar Syndrome, Type Ii	Unconjugated hyperbilirubinemia	OMIM:606785
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Epicanthus, Alopecia, Short stature, Flexion contracture, Scoliosis, Camptodactyly	ORPHA:88630
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Mitochondrial Complex I Deficiency, Nuclear Type 25	Myopathy, Failure to thrive, Nemaline bodies, Intrauterine growth retardation	OMIM:618246
Corneal Dystrophy, Reis-Bucklers Type	Palpebral edema, Corneal opacity, Corneal dystrophy, Corneal erosion, Opacification of the cornea...	OMIM:608470
L-Ferritin Deficiency	Alopecia	OMIM:615604
Myasthenic Syndrome, Congenital, 1B, Fast-Channel	Facial palsy, Type 2 muscle fiber atrophy, Scoliosis, Weakness of facial musculature, Limb muscle...	OMIM:608930
Dpm3-Cdg	Calf muscle hypertrophy, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness	ORPHA:263494
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ataxia, Cachexia, Ragged-red muscle fibers, Weight loss, Slender build	OMIM:613662
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Epicanthus, Alopecia, Brittle hair, Short stature, Upslanted palpebral fissure, Intrauterine grow...	ORPHA:50812
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Short stature, Increased muscle lipid c...	ORPHA:324604
Bachmann-Bupp Syndrome	Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Hyperbilirubinemia, Small nail, Blepharophim...	OMIM:619075
Erythrokeratodermia Variabilis	Alopecia, Short stature, Hypermelanotic macule, Abnormal hair morphology, Weight loss, Abnormalit...	ORPHA:317
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	OMIM:237500
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus...	OMIM:620138
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia	OMIM:218800
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Severe short stature, Facial palsy, Absent eyelashes, Multiple cafe-au-...	ORPHA:2316
Isolated Polycystic Liver Disease	Back pain, Gastrointestinal hemorrhage, Increased total bilirubin	ORPHA:2924
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Nail pits, Congenital alopecia totalis	ORPHA:169095
Spastic Paraplegia 23, Autosomal Recessive	Scapular winging, Premature graying of body hair, Multiple lentigines, Scoliosis, Loss of ambulat...	OMIM:270750
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Scoliosis, Corneal opacity, Abnormal form of the vertebral bodies	ORPHA:2370
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
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al...	ORPHA:352479
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Fibrodysplasia Ossificans Progressiva	Alopecia, Failure to thrive, Abnormal vertebral morphology	ORPHA:337
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m...	OMIM:616867
Kerion Celsi	Alopecia	ORPHA:499
Satoyoshi Syndrome	Skeletal muscle hypertrophy, Alopecia, Short stature, Alopecia universalis	OMIM:600705
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Long palpebral fissure, Downslanted palpeb...	OMIM:602562
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Waddling gait, Short stature, Hyperlordosis, Fatty replacement of skeletal muscle, Generalized am...	ORPHA:52430
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Sparse scalp hair, Skeletal muscle atrophy, Epicanthus, Sparse eyelashes, Telecanthus, Kyphoscoli...	ORPHA:75496
Combined Oxidative Phosphorylation Deficiency 49	Ragged-red muscle fibers, Difficulty walking	OMIM:619024
Autosomal Recessive Progressive External Ophthalmoplegia	Scapular winging, Ataxia, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Myopathy,...	ORPHA:254886
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Lagophthalmos, Bilateral ptosis, Inability to walk, Decreased LDL cholesterol concentration, Corn...	ORPHA:404454
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Chanarin-Dorfman Syndrome	Myopathy, Alopecia, Ataxia, Ectropion	OMIM:275630
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Mucolipidosis Type Iii	Corneal opacity, Abnormal form of the vertebral bodies, Hyperlordosis	ORPHA:577
Bilateral Striopallidodentate Calcinosis	Corneal opacity	ORPHA:1980
Greig Cephalopolysyndactyly Syndrome	Abnormal muscle fiber morphology, Cryptorchidism, Camptodactyly of toe, Joint contracture of the ...	OMIM:175700
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Back pain, Increased total bilirubin	OMIM:174050
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Waddling gait, Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy,...	OMIM:310300
Myasthenic Syndrome, Congenital, 1A, Slow-Channel	Hand muscle atrophy, Intrinsic hand muscle atrophy, Upper limb muscle weakness, Type 2 muscle fib...	OMIM:601462
Spastic Paraplegia Type 7	Ragged-red muscle fibers, Upper limb muscle weakness, Lower limb hypertonia, Scoliosis, Lower lim...	ORPHA:99013
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Large for ge...	ORPHA:169189
Proximal 16P11.2 Microduplication Syndrome	Sparse eyelashes, Short stature, Congenital diaphragmatic hernia, Sparse eyebrow, Hemivertebrae, ...	ORPHA:370079
Nicolaides-Baraitser Syndrome	Alopecia, Severe short stature, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, Cr...	ORPHA:3051
Moynahan Syndrome	Sparse hair, Alopecia, Short stature, Cachexia	ORPHA:2574
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Arthrogryposis multiplex congenita,...	OMIM:608931
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent...	OMIM:136120
Congenital Myopathy 24	Waddling gait, Scapular winging, Facial palsy, Type 1 muscle fiber predominance, Nemaline bodies	OMIM:617336
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber...	OMIM:605355
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Thoracic kyphoscoliosis, Facial palsy, Triceps weakness, Weakness of lon...	ORPHA:98913
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Ataxia, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ...	ORPHA:171433
Combined Oxidative Phosphorylation Deficiency 28	Ragged-red muscle fibers	OMIM:616794
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Scapular winging, Failure to thrive, Hyperlordosis, Ragged-red muscle fibers, Generalized limb mu...	OMIM:600462
Hypomelanosis Of Ito	Epicanthus, Alopecia, Kyphosis, Macular hypopigmented whorls, streaks, and patches, Scoliosis	OMIM:300337
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Brittle Cornea Syndrome 1	Keratoconus, Epicanthus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, S...	OMIM:229200
Flynn-Aird Syndrome	Alopecia, Alopecia of scalp, Ataxia, Kyphoscoliosis	OMIM:136300
Benign Samaritan Congenital Myopathy	Epicanthus, Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers	ORPHA:324581
Oculomaxillofacial Dysostosis	Corneal opacity, Abnormal eyelid morphology, Abnormal eyelash morphology, Upslanted palpebral fis...	ORPHA:1794
Mitochondrial Dna Depletion Syndrome 11	Facial palsy, Kyphosis, Ragged-red muscle fibers, Proximal amyotrophy, Generalized amyotrophy, Pt...	OMIM:615084
Coenzyme Q10 Deficiency, Primary, 9	Type 2 muscle fiber predominance, Ataxia, Dysmetria, Impaired tandem gait	OMIM:619028
Amyotrophic Lateral Sclerosis 20	Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles	OMIM:615426
Arthrogryposis Multiplex Congenita 6	Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni...	OMIM:619334
Native American Myopathy	Skeletal muscle atrophy, Short stature, Progressive congenital scoliosis, Cryptorchidism, Abnorma...	ORPHA:168572
Palmoplantar Keratoderma And Congenital Alopecia 2	Nail dystrophy, Camptodactyly of finger, Alopecia totalis, Nail dysplasia	OMIM:212360
Hurler-Scheie Syndrome	Corneal opacity, Spinal canal stenosis, Cardiomyopathy, Abnormal vertebral morphology, Generalize...	ORPHA:93476
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame...	OMIM:619461
Myopathy, Myofibrillar, 4	Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting	OMIM:609452
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Hypotonia-Cystinuria Syndrome	Facial palsy, Decreased response to growth hormone stimulation test, Postnatal growth retardation...	OMIM:606407
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Corneal opacity, Gait ataxia, Upslanted palpebral fissure, Scoliosis, Hypertrophic card...	ORPHA:496790
Myopathy, Myofibrillar, 8	Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contracture, Joint ...	OMIM:617258
Cronkhite-Canada Syndrome	Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Cachexia, Hypoplastic to...	ORPHA:2930
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Short stature, Thoracolumbar scoliosis, Flexion contracture, Low posterior hairline, Myopathy, Ce...	OMIM:616549
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I...	OMIM:610202
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Myopathy, Limb muscle weakness, Type 2 muscle fiber atrophy, Ptosis	OMIM:605809
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, Short stature, Congenital diaphragmatic hernia, Polycystic ovaries, Truncal obesi...	ORPHA:284180
Waardenburg Syndrome Type 1	Telecanthus, White eyelashes, White eyebrow, Hypopigmentation of hair, Abnormal hair morphology, ...	ORPHA:894
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Abnormality of retinal pigmentation, Broad-based gait, A...	ORPHA:14
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr...	ORPHA:254864
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f...	OMIM:615422
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia	OMIM:179700
Mucolipidosis Iii Gamma	Aortic regurgitation, Increased serum beta-hexosaminidase, Hyperlordosis, Short neck, Kyphosis, S...	OMIM:252605
Coffin-Siris Syndrome 3	Sparse scalp hair, Ptosis, Short stature, Central diaphragmatic hernia, Hirsutism, Macroglossia, ...	OMIM:614608
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Low anterior hairline, Cataract, Corneal opacity, Elevated circulating creatine kinase concentration	OMIM:613153
Familial Partial Lipodystrophy, Dunnigan Type	Abnormality of skeletal muscle fiber size, Polycystic ovaries, Skeletal muscle hypertrophy, Myopa...	ORPHA:2348
Bartsocas-Papas Syndrome	Corneal opacity, Alopecia totalis, Hypoplastic toenails, Ankyloblepharon, Popliteal pterygium, Ey...	ORPHA:1234
Porphyria Cutanea Tarda	Facial hypertrichosis, Alopecia, Hyperpigmentation in sun-exposed areas, Onycholysis	OMIM:176100
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Lipoyltransferase 1 Deficiency	Hyperglutaminemia, Hyperprolinemia, Bradycardia, Pulmonary arterial hypertension, Increased total...	OMIM:616299
Neutral Lipid Storage Disease With Ichthyosis	Alopecia, Ectropion, Ataxia, Short stature, Obesity, Myopathy, Shoulder girdle muscle weakness, I...	ORPHA:98907
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Flexion contracture, Nail dystrophy, Nail dysplasia, Sparse hair, Ectropion	OMIM:242300
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Butterfly vertebrae, Kerat...	OMIM:308205
Myasthenic Syndrome, Congenital, 6, Presynaptic	Arthrogryposis multiplex congenita, Type 2 muscle fiber atrophy, Ptosis	OMIM:254210
Lacrimoauriculodentodigital Syndrome	Lacrimal gland aplasia, Absent lacrimal punctum, Increased corneal thickness, Hypoplasia of the l...	ORPHA:2363
Amish Nemaline Myopathy	Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina...	ORPHA:98902
Waardenburg Syndrome, Type 4A	White eyelashes, White eyebrow, Ataxia, Blue irides, Hypopigmented skin patches, Premature grayin...	OMIM:277580
Griscelli Syndrome Type 1	Partial albinism, Ataxia, Hyperlipidemia, White hair, Premature graying of hair, Iris hypopigment...	ORPHA:79476
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Ptosis, Alopecia, Hyperconvex fingernails, Myopathy, Hypoplastic fingernail	ORPHA:257
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Epicanthus, Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Upslanted palpebral fissu...	OMIM:152950
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613265
Epidermolysis Bullosa With Diaphragmatic Hernia	Congenital diaphragmatic hernia	OMIM:226735
Autosomal Recessive Centronuclear Myopathy	Waddling gait, Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal musc...	ORPHA:169186
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Type 1 muscle fiber predominance, Increased variability in muscle fiber diameter, Frontal hirsuti...	OMIM:612949
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Ptosis	ORPHA:663
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating...	ORPHA:247598
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Waddling gait, Hyperlordosis, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Diffi...	ORPHA:369840
Hemifacial Atrophy, Progressive	Ataxia, Poliosis, Kyphosis, Horner syndrome, Patchy alopecia, Blepharophimosis	OMIM:141300
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Skeletal muscle atrophy, Thoracic scoliosis, Abnormality of skeletal muscle fiber size, Increased...	OMIM:620278
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Hyperbilirubinemia, Shunt, Primary	Hyperbilirubinemia	OMIM:237800
Glycogen Storage Disease Xii	Epicanthus, Elevated circulating creatine kinase concentration, Short neck, Low posterior hairlin...	OMIM:611881
Rhizomelic Chondrodysplasia Punctata	Epicanthus, Alopecia, Short stature, Rhizomelia, Growth delay, Scoliosis, Spina bifida occulta, S...	ORPHA:177
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, Impair...	OMIM:619574
Tonne-Kalscheuer Syndrome	Broad-based gait, Short stature, Congenital diaphragmatic hernia, Concave nail, Cryptorchidism, B...	OMIM:300978
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia, Unsteady gait, Limb ataxia, Distal amyotrophy, Gait disturbance, Difficulty walking, Tr...	ORPHA:412057
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Ptosis, Ataxia, Broad-based gait, Centrally nucleated ...	OMIM:607459
Oculocerebrocutaneous Syndrome	Alopecia, Abnormal fingernail morphology, Congenital diaphragmatic hernia, Cryptorchidism, Hypopi...	ORPHA:1647
Gm1-Gangliosidosis, Type Iii	Ataxia, Kyphosis, Platyspondyly, Scoliosis, Opacification of the corneal stroma, Anterior beaking...	OMIM:230650
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Myopathy With Lactic Acidosis, Hereditary	Skeletal muscle atrophy, Bilateral ptosis, Rhabdomyolysis, Myopathy, Increased intramyocellular l...	OMIM:255125
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Nail dystrophy, Nail pits	OMIM:601705
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ...	OMIM:614300
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Cataract, Corneal opacity, Congenital abnormal hair pattern, Spotty hypopigmentation, H...	ORPHA:1867
Yemenite Deaf-Blind Hypopigmentation Syndrome	Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Iri...	OMIM:601706
Adult-Onset Distal Myopathy Due To Vcp Mutation	Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta...	ORPHA:329478
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Abnormal size of the palpebral fissures, Hypopigmented skin patches, Mi...	ORPHA:3214
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Skeletal muscle atrophy, Plantar flexion contracture, Arthrogryposis-like hand anomaly, Distal ar...	OMIM:620011
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Short stature, Absent pubertal growth spurt, Congenital diaphragmatic hernia, Gait ataxia	ORPHA:438134
Bathing Suit Ichthyosis	Alopecia, Multiple joint contractures, Hypohidrosis, Nail dystrophy, Sparse hair, Ectropion	ORPHA:100976
Combined Oxidative Phosphorylation Defect Type 13	Hip contracture, Ankle flexion contracture, Choreoathetosis, Lower limb hypertonia, Type 1 muscle...	ORPHA:319514
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Sparse body hair, Abnormal testis morphology, Pili torti, Apla...	ORPHA:202
Creatine Phosphokinase, Elevated Serum	Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa...	OMIM:123320
Bartsocas-Papas Syndrome 2	Corneal opacity, Antecubital pterygium, Ankyloblepharon, Popliteal pterygium, Axillary pterygium	OMIM:619339
Pparg-Related Familial Partial Lipodystrophy	Calf muscle pseudohypertrophy, Abnormality of skeletal muscle fiber size, Polycystic ovaries, Ske...	ORPHA:79083
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Gilbert Syndrome	Unconjugated hyperbilirubinemia	OMIM:143500
15Q24 Microdeletion Syndrome	Epicanthus, Small for gestational age, Decreased response to growth hormone stimulation test, Con...	ORPHA:94065
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Telecanthus, Cataract, Epicanthus, Abnormal eyelid morphology, Short...	ORPHA:567
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e...	ORPHA:2399
Distal Xq28 Microduplication Syndrome	Epistaxis, Upper eyelid edema, Tip-toe gait, Cafe-au-lait spot, Neonatal hyperbilirubinemia, Apla...	ORPHA:293939
Vocal Cord And Pharyngeal Distal Myopathy	Abnormal morphology of musculature of pharynx, Unsteady gait, Abnormality of the calf musculature...	ORPHA:600
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Ataxia, Cachexia, Inability to walk, Upper-limb joint contracture, Dista...	ORPHA:300605
Adrenoleukodystrophy	Alopecia, Limb ataxia, Truncal ataxia, Lower limb muscle weakness, Hyperpigmentation of the skin	OMIM:300100
Optic Atrophy 11	Ataxia, Short stature, Gait apraxia, Dysmetria, Facial diplegia, Athetosis, Increased variability...	OMIM:617302
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Low anterior hairline, Low posterior hairline, Congenital bilateral ptosis, Cafe-au-lait spot, Ne...	ORPHA:73272
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Conjun...	ORPHA:2890
Classic Mycosis Fungoides	Alopecia, Abnormal eyelid morphology, Hypopigmented skin patches, Irregular hyperpigmentation, Ab...	ORPHA:2584
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Kyphosis, Ragged-red muscle fibers, Myopathy, Generalized amyotrophy, Weakness of facial musculat...	ORPHA:352447
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Hypohidrosis, Abno...	ORPHA:248
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Muscle fiber atrophy, Failure to thrive, Flexion contracture	OMIM:620240
Warburg-Cinotti Syndrome	Epicanthus, Symblepharon, Narrow palpebral fissure, Limbal stem cell deficiency, Decreased cornea...	OMIM:618175
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys...	ORPHA:2325
Lipodystrophy, Congenital Generalized, Type 4	Centrally nucleated skeletal muscle fibers, Hyperlordosis, Flexion contracture, Skeletal muscle h...	OMIM:613327
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Alopecia, Streak ovary, Sparse facial hair, Small hypothenar eminenc...	ORPHA:2232
Hepatic Veno-Occlusive Disease	Increased total bilirubin	ORPHA:890
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Telecanthus, Corneal opacity, Elevated circulating creatine kinase concentration, Abnormal left v...	OMIM:301056
Craniofrontonasal Dysplasia	Camptodactyly of finger, Congenital diaphragmatic hernia, Abnormality of hair texture, Widow's pe...	ORPHA:1520
Chronic Bilirubin Encephalopathy	Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernatremia, Neonatal h...	ORPHA:529808
Acute Bilirubin Encephalopathy	Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernatremia, Neonatal h...	ORPHA:529799
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity, Increased intervertebral space, Thoracic platyspondyly, Beaking of vertebral bod...	OMIM:618961
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Hyperlordosis, Flexion contrac...	OMIM:611588
Combined Oxidative Phosphorylation Defect Type 27	Ragged-red muscle fibers	ORPHA:477774
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Nail dystrophy	OMIM:616487
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E...	ORPHA:397744
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Patchy alopecia, Nail dystrophy, Fragile nails, Palmar hyperhidrosis	OMIM:226650
Congenital Ichthyosiform Erythroderma	Alopecia, Short stature, Hypohidrosis, Failure to thrive, Abnormality of the nail, Ectropion	ORPHA:79394
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating long chain fatty acid concentration, Epicanthus, Abnormality of the hairline...	OMIM:614886
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Hyp...	OMIM:616866
Short Syndrome	Posterior embryotoxon, Telecanthus, Corneal opacity, Alopecia, Abnormal pupil morphology, Hypopla...	ORPHA:3163
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Hyperpigmentati...	OMIM:104100
Muscular Dystrophy, Congenital, Megaconial Type	Waddling gait, Facial palsy, Myopathy, Muscular dystrophy, Increased endomysial connective tissue	OMIM:602541
Macular Dystrophy, Corneal	Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions	OMIM:217800
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Hypopigmentation of the skin, Lumbar hyperlordosis, Myopathy, Abdominal ...	OMIM:615980
Bile Acid Synthesis Defect, Congenital, 5	Portal hypertension, Increased serum bile acid concentration, Increased total iron binding capaci...	OMIM:616278
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Ataxia, Synophrys, Piebaldism, Hypopigm...	ORPHA:2884
Cortisone Reductase Deficiency 1	Alopecia, Obesity, Hirsutism	OMIM:604931
Scheie Syndrome	Aortic regurgitation, Corneal opacity, Short neck, Aortic valve stenosis, Spondylolisthesis	OMIM:607016
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Albinism, Kyphosis, Platyspondyly, Hypopigmentation of the skin	ORPHA:2786
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal opacity, Elevated circulating creatine kinase concentration, Cerebral hemorrhage, Polycor...	OMIM:175780
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Autosomal Recessive Cutis Laxa Type 2A	Corneal opacity, Thick hair, Ataxia, Inability to walk, Athetosis, Abnormal cornea morphology, Do...	ORPHA:357058
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Corneal opacity, Dilated cardiomyopathy, Developmental cataract, Bradycardia, Hypertrophic cardio...	OMIM:618815
Polyendocrine-Polyneuropathy Syndrome	Alopecia, Ataxia, Anterior pituitary hypoplasia, Postnatal growth retardation, Proximal muscle we...	ORPHA:453533
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, Limb muscle weak...	OMIM:157640
Fetal Alcohol Syndrome	Telecanthus, Epicanthus, Short stature, Congenital diaphragmatic hernia, Vertebral segmentation d...	ORPHA:1915
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Sialidosis Type 2	Kyphosis, Corneal opacity, Ataxia	ORPHA:87876
Linear Skin Defects With Multiple Congenital Anomalies 2	Congenital diaphragmatic hernia, Short stature, Nail dystrophy, Highly arched eyebrow	OMIM:300887
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Left ven...	OMIM:615418
Vogt-Koyanagi-Harada Disease	Abnormal eyebrow morphology, Sparse scalp hair, Cataract, Poliosis, Abnormal eyelash morphology, ...	ORPHA:3437
Oculopharyngodistal Myopathy 1	Ptosis, Autophagic vacuoles, Facial palsy, Ataxia, Bilateral ptosis, Weight loss, Distal amyotrop...	OMIM:164310
Free Sialic Acid Storage Disease	Failure to thrive in infancy, Ataxia, Aplasia/Hypoplasia of the abdominal wall musculature, Abnor...	ORPHA:834
Hypertrichosis Lanuginosa Congenita	Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow	ORPHA:2222
Lathosterolosis	Epicanthus, Cataract, Lumbosacral meningocele, Abnormal circulating cholesterol concentration, Op...	OMIM:607330
Waardenburg-Shah Syndrome	Abnormal eyebrow morphology, Telecanthus, White eyelashes, White eyebrow, Abnormality of retinal ...	ORPHA:897
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Ataxia, Abnormality of skin pigmentation, Nail dystrophy, Sparse hair, Intrauterine gro...	OMIM:616353
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Fine hair, Microcornea...	ORPHA:1806
Adams-Oliver Syndrome 2	Alopecia, Low anterior hairline, Narrow palpebral fissure, Small nail, Limb hypertonia	OMIM:614219
Glycogen Storage Disease Due To Aldolase A Deficiency	Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, G...	ORPHA:57
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Ataxia, Athetosis, Distal amyotrophy, Loss of ambulation, Fiber type grouping	OMIM:271245
Sialidosis Type 1	Cataract, Corneal opacity, Ataxia, Kyphosis, Abnormal form of the vertebral bodies, Gait disturba...	ORPHA:812
Amyotrophic Lateral Sclerosis 21	Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness...	OMIM:606070
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Distal lower limb amyotrophy, Thenar muscle atrophy, Difficulty walking, Distal lower limb muscle...	OMIM:500013
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:607624
Juvenile Sialidosis Type 2	Cataract, Corneal opacity, Ataxia, Dysmetria, Abnormal form of the vertebral bodies, Generalized ...	ORPHA:93399
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Premature graying of hair, Hypop...	ORPHA:33445
8p23.1 deletion syndrome	Cryptorchidism, Congenital diaphragmatic hernia	DECIPHER:39
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers	OMIM:540000
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Ragged-red muscle fibers, Ataxia, Gait disturbance	ORPHA:1349
Hernia, Anterior Diaphragmatic	Congenital diaphragmatic hernia	OMIM:306950
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Harderoporphyria	Increased circulating ferritin concentration, Neonatal hyperbilirubinemia, Hyperpigmentation of t...	OMIM:618892
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Alopecia, Multiple joint contractures, Small for gestational age, Broad...	ORPHA:2959
Hypokalemic Periodic Paralysis	Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology	ORPHA:681
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Gait disturbance, Decreased corneal thickne...	OMIM:614170
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Distal lower limb amyotrophy, Alopecia, Hyperpigmentation of the skin, Depigmentation/hyperpigmen...	ORPHA:79396
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
8Q21.11 Microdeletion Syndrome	Epicanthus, Cataract, Corneal opacity, Iris hypopigmentation, Sclerocornea, Short neck, Blepharop...	ORPHA:284160
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Skeletal muscle atrophy, Alopecia, Failure to thrive	OMIM:210210
Zaki Syndrome	Sparse scalp hair, Short stature, Congenital diaphragmatic hernia, Sparse eyebrow, Hypoplastic to...	OMIM:619648
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Ragged-red muscle fibers, Limb muscle weakness, Gait disturbance, EMG: myopathic abnormalities, P...	OMIM:609286
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir...	ORPHA:766
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Lethal Congenital Contracture Syndrome 9	Thoracic kyphoscoliosis, Elbow extension contracture, Centrally nucleated skeletal muscle fibers,...	OMIM:616503
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ...	ORPHA:158057
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Mucopolysaccharidosis, Type Vii	Epicanthus, Thick eyebrow, Corneal opacity, Anterior beaking of lower thoracic vertebrae, Short n...	OMIM:253220
Myopathy, Centronuclear, 5	Hip contracture, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers	OMIM:615959
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Severe short stature, Kyphosis, Moderate postnatal growth retardation, Hypohidrosis, Up...	ORPHA:1005
Mucolipidosis Iv	Corneal opacity, Opacification of the corneal stroma	OMIM:252650
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Microphthalmia, Syndromic 16	Ankyloblepharon, Sclerocornea	OMIM:611038
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Distal Deletion 6P	Posterior embryotoxon, Epicanthus, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of...	ORPHA:96125
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased muscle mass, Cachexia, Ragged-red muscle fibers, Weight loss, Abnormality of the extrao...	ORPHA:298
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Abnormality of skin pigmentation, Growth delay, Nail dystrophy, Anony...	ORPHA:79402
Multicentric Carpotarsal Osteolysis Syndrome	Inability to walk, Hypertension, Corneal opacity	OMIM:166300
13Q12.3 Microdeletion Syndrome	Short stature, Congenital diaphragmatic hernia, Kyphoscoliosis, Cryptorchidism, Obesity, Upper ey...	ORPHA:412035
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Hyperlipidemia	OMIM:214900
Alpha-Mannosidosis	Cataract, Corneal opacity, Short neck, Kyphosis, Scoliosis	ORPHA:61
Gorlin-Chaudhry-Moss Syndrome	Sclerocornea, Abnormal eyelid morphology, Low anterior hairline, Upper eyelid coloboma, Coarse ha...	ORPHA:2095
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Gait ataxia, Increased variability in muscle fiber diameter, Ragged-red muscle fibers, Ptosis	ORPHA:70595
Combined Oxidative Phosphorylation Deficiency 19	Increased variability in muscle fiber diameter, Failure to thrive	OMIM:615595
Diaphragmatic Hernia 3	Congenital diaphragmatic hernia	OMIM:610187
Diaphragmatic Hernia, Congenital	Congenital diaphragmatic hernia	OMIM:142340
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Short stature, Camptodactyly of finger, Cryptorchidism, Patchy alopecia, Multiple cafe-au-lait sp...	ORPHA:85279
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Epicanthus, Short stature, Congenital diaphragmatic hernia, Sparse eyebrow, Low posterior hairlin...	OMIM:606164
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Distal lower limb amyotrophy, Facial hypotonia, Short stature, Cryptorchidism, Flexion contractur...	OMIM:300534
X-Linked Dominant Chondrodysplasia Punctata	Abnormally ossified vertebrae, Sparse eyelashes, Short stature, Abnormal hair pattern, Kyphoscoli...	ORPHA:35173
Familial Dysautonomia	Hyponatremia, Orthostatic hypotension, Tachycardia, Corneal opacity, Ataxia, Abnormal pupil morph...	ORPHA:1764
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Corneal dystrophy, Keratitis, Sparse eyebrow, Scarring alopecia of scalp, Dystr...	OMIM:308800
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ...	ORPHA:79414
Idiopathic Congenital Hypothyroidism	Bradycardia, Neonatal hyperbilirubinemia	ORPHA:95717
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo...	ORPHA:206569
Peroxisome Biogenesis Disorder 13A (Zellweger)	Conjugated hyperbilirubinemia, Posterior embryotoxon, Neonatal death, Increased circulating very ...	OMIM:614887
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair, Hyperbilirubinemia	OMIM:609734
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Olmsted Syndrome 1	Subungual hyperkeratosis, Corneal opacity, Nail dystrophy, Nail dysplasia, Opacification of the c...	OMIM:614594
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Biliary Atresia, Extrahepatic	Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin	OMIM:210500
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Skeletal muscle atrophy, Epicanthus, Small for gestational age, Ataxia, Type 2 muscle fiber predo...	OMIM:615471
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Linear Verrucous Nevus Syndrome	Sparse scalp hair, Cataract, Abnormal cornea morphology, Scoliosis, Hypophosphatemia, Iris coloboma	ORPHA:2611
Microphthalmia, Isolated, With Coloboma 9	Sclerocornea, Microcornea, Narrow palpebral fissure, Ocular anterior segment dysgenesis, Iris col...	OMIM:615145
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Broad-based gait, Hypopigmentation of hair, Ataxia, Hypopigmentation of the skin, Iris hypopigmen...	ORPHA:411515
Lethal Congenital Contracture Syndrome 5	Congenital contracture, Flexion contracture, Small for gestational age, Centrally nucleated skele...	OMIM:615368
Kearns-Sayre Syndrome	Hypoparathyroidism, Ataxia, Short stature, Ragged-red muscle fibers, Pigmentary retinopathy, Ptosis	OMIM:530000
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Epicanthus, Alopecia, Supernumerary nipple, Truncal obesity, Abnormal vertebral morphology	ORPHA:3224
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Scapular winging, Small thenar eminence, Distal lower limb muscle weakness, Tendon rupture, Fiber...	OMIM:620080
Squalene Synthase Deficiency	Epicanthus, Increased circulating farnesol concentration, Decreased LDL cholesterol concentration...	OMIM:618156
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Epicanthus, Cataract, Palpebral edema, Tricuspid regurgitation, Brushfield ...	OMIM:614866
Myasthenic Syndrome, Congenital, 19	Increased variability in muscle fiber diameter, Facial palsy, Ptosis	OMIM:616720
Terminal Osseous Dysplasia	Epicanthus, Multiple joint contractures, Telecanthus, Camptodactyly of finger, Upslanted palpebra...	OMIM:300244
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ...	ORPHA:542323
Incontinentia Pigmenti	Alopecia, Abnormal fingernail morphology, Camptodactyly of finger, Supernumerary nipple, Short st...	ORPHA:464
Deafness, Congenital, With Vitiligo And Achalasia	Skeletal muscle atrophy, Short stature, Vitiligo	OMIM:221350
Fish-Eye Disease	Decreased HDL cholesterol concentration, Corneal opacity, Angina pectoris	ORPHA:79292
Mandibuloacral Dysplasia	Alopecia, Postnatal growth retardation, Abnormality of skin pigmentation, Contractures of the lar...	ORPHA:2457
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Cataract, Elevated circulating creatine kinase concentration, Hypoplastic toenails, Decreased pla...	OMIM:608836
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Osteoporosis-Pseudoglioma Syndrome	Loss of ambulation, Corneal opacity, Waddling gait	ORPHA:2788
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Alopecia, Short stature, Abnormal hair morphology, Nail dystrophy, Delayed puberty, H...	ORPHA:90154
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Methionine Malabsorption Syndrome	White hair, Blue irides, Positive ferric chloride test	OMIM:250900
Schöpf-Schulz-Passarge Syndrome	Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Ovarian neoplasm	ORPHA:50944
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Short stature, Absent eyelashes, Flexion contracture, Brea...	ORPHA:90153
Megaloblastic Anemia, Folate-Responsive	Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia	OMIM:601775
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Highly arched eyebrow, Hyperlordosis, Synophrys, Hypohidrosis, Dystrophic toenail, Down...	ORPHA:3253
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Cryptorchidism, Vertebral segmentation defect, Short stature, Congenital diaphragmatic hernia	ORPHA:1166
Cebalid Syndrome	Thick eyebrow, Congenital diaphragmatic hernia, Downslanted palpebral fissures, Highly arched eye...	OMIM:618774
Griscelli Syndrome	Abnormal eyebrow morphology, Ataxia, Abnormal eyelash morphology, Silver-gray hair, White hair, H...	ORPHA:381
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Conjunctivitis, Nail dyst...	OMIM:612843
Glycogen Storage Disease Vii	Increased muscle glycogen content, Cholelithiasis, Increased variability in muscle fiber diameter	OMIM:232800
Oculocerebrocutaneous Syndrome	Cryptorchidism, Alopecia, Orbital cyst, Eyelid coloboma	OMIM:164180
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Short stature, Abnormality of the anterior pituitary, Upslanted palpebral...	ORPHA:75389
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Abnormal hair morphology, Flexion contracture, Weight loss, Premature graying of hair, ...	ORPHA:1979
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Hypoplastic toenails, Myopathy, Increased variability in muscle fiber diameter	OMIM:604377
Waardenburg Syndrome, Type 3	Telecanthus, Partial albinism, Synophrys, Blue irides, Hypopigmented skin patches, Premature gray...	OMIM:148820
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism	ORPHA:90023
Localized Junctional Epidermolysis Bullosa	Limb joint contracture, Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atro...	ORPHA:251393
Myoglobinuria, Recurrent	Ragged-red muscle fibers	OMIM:550500
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Developmental glaucoma, Corneal opacity, Telecanthus	ORPHA:1064
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL...	OMIM:267700
Intellectual Disability-Strabismus Syndrome	Epicanthus, Telecanthus, Failure to thrive, Decreased response to growth hormone stimulation test...	ORPHA:363528
Lethal Congenital Contracture Syndrome 10	Torticollis, Thoracic scoliosis, Macroglossia, Hypoplasia of the thymus, Increased variability in...	OMIM:617022
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Short stature, Sparse eyebrow, Flexion contracture...	OMIM:614008
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Cataract, Corneal opacity, Iris hypopigmentation, Ataxia, Ocular albini...	ORPHA:2719
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Cataract, Ataxia, Conjugated hyperbilirubinemia, Inability to walk, Hyperkalemia, Nuclear cataract	OMIM:608885
Apolipoprotein A-I Deficiency	Decreased HDL cholesterol concentration, Angina pectoris, Xanthelasma, Opacification of the corne...	ORPHA:425
Menkes Disease	Alopecia, Brittle hair, Short stature, Sparse hair, Intrauterine growth retardation, Hypopigmenta...	OMIM:309400
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Tbck-Related Intellectual Disability Syndrome	Epicanthus, Corneal opacity, Short neck, Inability to walk, Synophrys, Hirsutism, Upslanted palpe...	ORPHA:488632
Mucopolysaccharidosis, Type Ivb	Corneal opacity, Ovoid vertebral bodies, Ataxia, Hyperlordosis, Hypoplasia of the odontoid proces...	OMIM:253010
12Q14 Microdeletion Syndrome	Skeletal muscle atrophy, Thick eyebrow, Short stature, Synophrys, Scoliosis, Intrauterine growth ...	ORPHA:94063
Combined Oxidative Phosphorylation Deficiency 24	Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature, Ptosis	OMIM:616239
Gm1 Gangliosidosis	Corneal opacity, Ataxia, Hyperlordosis, Kyphosis, Congestive heart failure, Unsteady gait, Abnorm...	ORPHA:354
3Mc Syndrome 3	Sacral dimple, Corneal opacity, Highly arched eyebrow, Blepharophimosis, Epicanthus inversus, Ptosis	OMIM:248340
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level	ORPHA:95715
Kury-Isidor Syndrome	Alopecia, Hypertrichosis, Growth delay, Scoliosis, Downslanted palpebral fissures, Ptosis	OMIM:619762
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia	ORPHA:346
Hurler Syndrome	Aortic regurgitation, Corneal opacity, Short neck, Bilateral ptosis, Hypoplasia of the odontoid p...	OMIM:607014
Monosomy 18P	Epicanthus, Alopecia, Short stature, Kyphoscoliosis, Low posterior hairline, Ptosis	ORPHA:1598
Porphyria, Congenital Erythropoietic	Absent eyebrow, Alopecia, Short stature, Loss of eyelashes, Conjunctivitis, Cholelithiasis, Verte...	OMIM:263700
Oculocutaneous Albinism Type 1	White eyelashes, White eyebrow, Blue irides, Iris transillumination defect, Generalized hypopigme...	ORPHA:352731
Congenital Myasthenic Syndrome	Waddling gait, Ptosis, Ataxia, Kyphoscoliosis, Limb-girdle muscle weakness, Distal amyotrophy, Ti...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Waddling gait, Ptosis, Ataxia, Kyphoscoliosis, Limb-girdle muscle weakness, Distal amyotrophy, Ti...	ORPHA:98914
Holocarboxylase Synthetase Deficiency	Alopecia, Ataxia, Weight loss, Growth delay, Keratoconjunctivitis	ORPHA:79242
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Cholestasis, Benign Recurrent Intrahepatic, 1	Conjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:243300
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Ataxia, Hyperbilirubinemia	ORPHA:713
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Coarse hair, Thick eyebrow	ORPHA:585
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Flexion contracture, Knee flexion c...	OMIM:265000
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hair, Melanin pigment aggregation...	OMIM:256710
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism, Congenital diaphragmatic hernia	ORPHA:261102
Lichen Planopilaris	Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Onycholysis, Pterygium	ORPHA:525
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Familial Thyroid Dyshormonogenesis	Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Bradycardia	ORPHA:95716
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol...	ORPHA:98973
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Pituitary adenoma, Primary hyperparathyroidism, Increased body weight, Proximal amyotro...	ORPHA:189427
X-Linked Intellectual Disability, Nascimento Type	Lumbar hypertrichosis, Abnormal hair whorl, Synophrys, Patchy hypo- and hyperpigmentation, Genera...	ORPHA:163956
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Flexion contracture, Growth delay, Conjunctivitis, Nail dystrophy, Nail dysplasia	OMIM:226600
Schimke Immuno-Osseous Dysplasia	Lumbar hyperlordosis, Corneal opacity, Hypermelanotic macule, Ovoid vertebral bodies, Short neck,...	ORPHA:1830
X-Linked Agammaglobulinemia	Alopecia, Short stature, Hypopigmented skin patches, Weight loss, Conjunctivitis, Failure to thrive	ORPHA:47
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi...	ORPHA:129
Chromosome 6Pter-P24 Deletion Syndrome	Epicanthus, Telecanthus, Short neck, Telangiectasia, Pigmentary retinopathy, Frontal upsweep of h...	OMIM:612582
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Gait disturbance, Corneal opacity, Ataxia	ORPHA:578
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Ectropion	ORPHA:411777
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Nasolacrimal duct obstruction, Nail pits, Fine hair, ...	ORPHA:978
Leigh Syndrome	Skeletal muscle atrophy, Alopecia, Multiple joint contractures, Ptosis, Ataxia, Choreoathetosis, ...	ORPHA:506
Greig Cephalopolysyndactyly Syndrome	Telecanthus, Congenital diaphragmatic hernia	ORPHA:380
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia, Ectropion	OMIM:242510
Cystinosis	Corneal opacity, Portal hypertension, Hypokalemia, Gait disturbance, Hypophosphatemia	ORPHA:213
Congenital Erythropoietic Porphyria	Hypopigmentation of the skin, Abnormal circulating porphyrin concentration, Scarring alopecia of ...	ORPHA:79277
Classic Phenylketonuria	Hypopigmentation of hair, Cataract, Hypopigmentation of the skin, Hyperphenylalaninemia	ORPHA:79254
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Brittle hair, Flexion contracture, Growth delay, Sparse hair, Mottled pigmentation	OMIM:608612
Wolcott-Rallison Syndrome	Hyponatremia, Hyperammonemia, Hypoalbuminemia, Difficulty walking, Hyperbilirubinemia	ORPHA:1667
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Conjunctival telangiectasia, Alopecia, Hypermelanotic macule, Multinodular goiter, Hypomelanotic ...	OMIM:618373
Gillessen-Kaesbach-Nishimura Syndrome	Telecanthus, Epicanthus, Congenital diaphragmatic hernia, Frontotemporal hypertrichosis, Flexion ...	OMIM:263210
Mucopolysaccharidosis Type 4	Corneal opacity, Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Gait ...	ORPHA:582
Polymyositis	Weight loss, Gait disturbance, Abnormal muscle fiber morphology	ORPHA:732
Relapsing Fever	Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration, Elevated circulati...	ORPHA:91547
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Sparse eyebrow, Unsteady gait, Absent pubic hair, Absent axillary ha...	ORPHA:2269
Hurler-Scheie Syndrome	Aortic regurgitation, Corneal opacity, Kyphosis, Mitral regurgitation, Scoliosis, Pulmonary arter...	OMIM:607015
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo	OMIM:227010
Alpha-Heavy Chain Disease	Growth delay, Alopecia	ORPHA:100025
Anterior Segment Dysgenesis 5	Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri...	OMIM:604229
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelid morphology, Fine hair, Gen...	ORPHA:2221
Hypermanganesemia With Dystonia 1	Steppage gait, Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbiliru...	OMIM:613280
Sjogren-Larsson Syndrome	Astigmatism, Thoracic kyphosis, Opacification of the corneal epithelium	OMIM:270200
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia	ORPHA:101009
Keratoderma Hereditarium Mutilans	Alopecia, Abnormality of the nail, Abnormal toenail morphology	ORPHA:494
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Skeletal muscle atrophy, Abnormality of retinal pigmentation, Short stature, Cachexia, Kyphosis, ...	ORPHA:1969
Waardenburg Syndrome	Abnormal eyebrow morphology, Telecanthus, Hypopigmentation of hair, Synophrys, Hypopigmented skin...	ORPHA:3440
Hepatoportal Sclerosis	Portal hypertension, Hypoalbuminemia, Hyperbilirubinemia, Gastrointestinal hemorrhage	ORPHA:64743
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Short stature, Abnormal eyelid morphology, Pa...	ORPHA:37
Olmsted Syndrome 2	Sparse hair, Woolly hair, Flexion contracture of digit, Alopecia universalis	OMIM:619208
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia, Corneal opacity, Kyphoscoliosis, Hypophosphatemic rickets, Hypopigmentation of the skin	OMIM:163200
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Cataract, Corneal opacity	ORPHA:290
Ichthyosis, Congenital, Autosomal Recessive 2	Anhidrosis, Alopecia, Thin nail, Abnormal hair morphology, Hypohidrosis, Growth delay, Small nail...	OMIM:242100
Donnai-Barrow Syndrome	Widow's peak, Downslanted palpebral fissures, Congenital diaphragmatic hernia	ORPHA:2143
Macs Syndrome	Alopecia, Epicanthus, Palpebral edema, Short stature, Sparse eyebrow, Cryptorchidism, Scoliosis, ...	OMIM:613075
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia	OMIM:619232
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Ptosis	OMIM:619424
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Ragged-red muscle fibers, Flexion contracture, Rhabdomyolysis, Unsteady ...	ORPHA:17
Drug-Induced Autoimmune Hemolytic Anemia	Congestive heart failure, Tachycardia, Increased total bilirubin	ORPHA:90037
Congenital Sialidosis Type 2	Abnormal EKG, Cataract, Corneal opacity, Ataxia, Dysmetria, Developmental cataract, Telangiectasi...	ORPHA:93400
Bile Acid Synthesis Defect, Congenital, 4	Decreased serum bile acid concentration, Hematochezia, Hyperbilirubinemia	OMIM:214950
Lowry-Maclean Syndrome	Corneal opacity, Developmental glaucoma, Generalized hypertrichosis, Megalocornea, Downslanted pa...	ORPHA:2409
Neuromuscular Oculoauditory Syndrome	Epicanthus, Retinal pigment epithelial mottling, Unsteady gait, Knee flexion contracture, Calf mu...	OMIM:618733
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Incontinentia Pigmenti	Ridged nail, Alopecia, Short stature, Supernumerary nipple, Kyphoscoliosis, Hemivertebrae, Nail p...	OMIM:308300
Griscelli Syndrome Type 2	Hypopigmentation of hair, Partial albinism, Hyperlipidemia, Premature graying of hair, Iris hypop...	ORPHA:79477
Bresek Syndrome	Alopecia, Cryptorchidism, Hemivertebrae, Growth delay, Scoliosis, Intrauterine growth retardation...	ORPHA:85284
Gomez-Lopez-Hernandez Syndrome	Alopecia, Short stature, Decreased response to growth hormone stimulation test, Ataxia, Downslant...	OMIM:601853
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Synophrys, Abnormal curvature of the vertebral column, Abnormality of skin pigmentatio...	OMIM:619475
Dyskeratosis Congenita, Digenic	Alopecia, Sparse eyelashes, Short stature, Bilateral ptosis, Abnormality of skin pigmentation, Na...	OMIM:620040
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Large Congenital Melanocytic Nevus	Congenital giant melanocytic nevus, Rhabdomyosarcoma, Hypopigmented skin patches, Abnormality of ...	ORPHA:626
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormal fingernail morphology, Hypohidrosis, Abnormality of skin pigmentation, Sparse hair, Spar...	ORPHA:1810
Chromosome 1Q41-Q42 Deletion Syndrome	Short stature, Congenital diaphragmatic hernia, Supernumerary nipple, Sparse eyebrow, Cryptorchid...	OMIM:612530
Wagro Syndrome	Cataract, Corneal opacity, Hypertension, Aniridia, Downslanted palpebral fissures, Ptosis	OMIM:612469
Ataxia-Telangiectasia	Hypopigmentation of hair, Telangiectasia of the skin, Ataxia, Premature graying of hair, Gait dis...	ORPHA:100
Brittle Cornea Syndrome	Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal scarring, Keratoglo...	ORPHA:90354
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Rapp-Hodgkin Syndrome	Ptosis, Absent lacrimal punctum, Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Short...	OMIM:129400
Cutis Laxa-Marfanoid Syndrome	Flexion contracture, Congenital diaphragmatic hernia	ORPHA:171719
Congenital Bile Acid Synthesis Defect Type 2	Conjugated hyperbilirubinemia, Hyperbilirubinemia, Abnormal serum bile acid concentration	ORPHA:79303
Rodrigues Blindness	Microcornea, Sparse hair, Sclerocornea, Fine hair	OMIM:268320
Leprosy	Absent eyebrow, Alopecia, Skeletal muscle atrophy, Testicular mass, Loss of eyelashes, Paralytic ...	ORPHA:548
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp...	ORPHA:79153
Synaptic Congenital Myasthenic Syndromes	Waddling gait, Skeletal muscle atrophy, Scapular winging, Ptosis, Facial palsy, Hand muscle weakn...	ORPHA:98915
Microphthalmia, Syndromic 12	Cryptorchidism, Congenital diaphragmatic hernia	OMIM:615524
Hurler Syndrome	Corneal opacity, Angina pectoris, Short neck, Spinal canal stenosis, Abnormality of skin pigmenta...	ORPHA:93473
Dyggve-Melchior-Clausen Disease	Corneal opacity, Short neck, Hypoplasia of the odontoid process, Abnormality of the vertebral end...	ORPHA:239
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Palpebral edema, Absent eyelashes, Hydrocele testis,...	ORPHA:69735
Hereditary Cryohydrocytosis With Reduced Stomatin	Cataract, Ataxia, Short neck, Conjugated hyperbilirubinemia, Zonular cataract	ORPHA:168577
Myotonic Dystrophy 2	Frontal balding, Generalized amyotrophy, Elevated circulating follicle stimulating hormone level,...	OMIM:602668
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Telecanthus, Cryptorchidism, Fine hair, Upslanted palpebral fissure, Intrauterine growt...	ORPHA:228390
Zellweger Syndrome	Epicanthus, Cataract, Corneal opacity, Brushfield spots, Upslanted palpebral fissure, Posterior e...	ORPHA:912
Mogs-Cdg	Alopecia, Thoracic scoliosis, Hydrocele testis, Long eyelashes, Left ventricular hypertrophy, Fai...	ORPHA:79330
Cranioectodermal Dysplasia 2	Unilateral ptosis, Epicanthus, Telecanthus, Sparse eyelashes, Short neck, Sparse eyebrow, Upslant...	OMIM:613610
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Congenital diaphragmatic hernia	ORPHA:2141
Ophthalmomandibulomelic Dysplasia	Megalocornea, Corneal opacity	ORPHA:2741
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Palpebral edema, Abnormal sweat gland morphology, Ab...	OMIM:607823
Gapo Syndrome	Alopecia, Epicanthus, Sparse eyelashes, Facial palsy, Sparse eyebrow, Growth delay, Hypoplastic n...	OMIM:230740
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Alopecia, Short stature, Conjunctivitis, Sparse hair, Failure to thrive, Fragile nails	OMIM:242150
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Sparse scalp hair, Alopecia, Postnatal growth retardation, Flexion contracture, Elbow...	OMIM:248370
Bjornstad Syndrome	Anhidrosis, Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular int...	OMIM:262000
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177910
Seckel Syndrome 9	Short stature, Small for gestational age, Congenital diaphragmatic hernia, Intrauterine growth re...	OMIM:616777
Severe Congenital Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ...	ORPHA:171430
Oculocutaneous Albinism Type 2	Hypopigmentation of the skin, Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormali...	ORPHA:79432
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated hepatic iro...	OMIM:616860
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Cryptorchidism, Small nail, Intrauteri...	ORPHA:166035
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Epicanthus, Palpebral edema, Absen...	OMIM:137940
Koolen-De Vries Syndrome	Vertebral fusion, Epicanthus, Cataract, Hypopigmentation of hair, Abnormality of hair texture, Ky...	ORPHA:96169
Tangier Disease	Hypertriglyceridemia, Corneal opacity, Nail dystrophy, Hypocholesterolemia, Ectropion	ORPHA:31150
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Large for gestational age, Bilater...	ORPHA:544488
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Congenital Dyserythropoietic Anemia Type Iii	Melena, Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia	ORPHA:98870
Cholestasis, Progressive Familial Intrahepatic, 8	Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbiliru...	OMIM:619662
Hypercholesterolemia, Familial, 3	Xanthelasma, Corneal arcus, Hypercholesterolemia, Abnormal LDL cholesterol concentration	OMIM:603776
Fetal Encasement Syndrome	Congenital diaphragmatic hernia	OMIM:613630
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis, Opacification of...	OMIM:313400
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Increased serum bile acid concentration, Hyperbilirubinemia	OMIM:619685
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Abnormality of retinal pigmentation, Corneal opacity, Ovoid vertebral bodies, Ectopia pupillae, P...	ORPHA:85167
Bartsocas-Papas Syndrome 1	Cicatricial lagophthalmos, Bilateral cryptorchidism, Flexion contracture, Ankyloblepharon, Pteryg...	OMIM:263650
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin...	ORPHA:464321
Xp22.3 Microdeletion Syndrome	Sacral dimple, Opacification of the corneal stroma	ORPHA:1643
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia, Ataxia, Gait apraxia, Dysmetria, Gait disturbance	OMIM:600142
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Bilateral ptosis, Heart murmur, Upslanted palpebral fissure, Intracranial hemorrhage, Hypocalcemi...	ORPHA:163979
Walker-Warburg Syndrome	Cataract, Corneal opacity, Microcornea, Abnormal circulating creatine kinase concentration, Iris ...	ORPHA:899
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Neuronal Intestinal Pseudoobstruction	Congenital diaphragmatic hernia	ORPHA:99811
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Broad-based gait, Corneal opacity, Corneal dystrophy, Short neck, Sparse eyebrow, Synophrys, Low ...	ORPHA:495875
1Q41Q42 Microdeletion Syndrome	Short stature, Congenital diaphragmatic hernia, Cryptorchidism, Upslanted palpebral fissure, Grow...	ORPHA:250999
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dystrophy, Scoliosis,...	OMIM:613150
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Congenital diaphragmatic hernia	OMIM:614100
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Epicanthus, Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Long eyelashes, Cryptophthalmos	OMIM:615877
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Absent muscle fiber merosin, Facial palsy, Hyperlordosis, Inability to walk, Flexion co...	ORPHA:258
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Short stature, Congenital diaphragmatic hernia, Cryptorchidism, Ky...	OMIM:617602
Schimke Immunoosseous Dysplasia	Waddling gait, Lumbar hyperlordosis, Transient ischemic attack, Hypermelanotic macule, Ovoid vert...	OMIM:242900
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Pachyonychia Congenita	Alopecia, Paronychia, Onychogryposis of toenails, Fingernail dysplasia, Nail dystrophy, Palmoplan...	ORPHA:2309
Mucolipidosis Ii Alpha/Beta	Brittle hair, Increased serum beta-hexosaminidase, Sparse hair, Megalocornea, Hypopigmentation of...	OMIM:252500
Neutral Lipid Storage Myopathy	Short stature, Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb muscl...	ORPHA:98908
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow	OMIM:614564
Bile Acid Synthesis Defect, Congenital, 2	Hyperbilirubinemia	OMIM:235555
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Ataxia, Short stature, Reticulated skin pigmentation, Cryptorchidism, Fine hair, Premat...	OMIM:613990
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Epicanthus, Small for gestational ...	OMIM:268400
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Hypoalb...	OMIM:603553
Xeroderma Pigmentosum	Conjunctival telangiectasia, Alopecia, Entropion, Ataxia, Hypermelanotic macule, Short stature, C...	ORPHA:910
Systemic Lupus Erythematosus 17	Alopecia	OMIM:301080
Chromosome 8Q21.11 Deletion Syndrome	Epicanthus, Cataract, Sclerocornea, Short neck, Pigmentary retinopathy, Downslanted palpebral fis...	OMIM:614230
Gapo Syndrome	Alopecia, Sparse eyelashes, Palpebral edema, Short stature, Sparse eyebrow, Early balding, Hypopi...	ORPHA:2067
Peroxisome Biogenesis Disorder 2A (Zellweger)	Epicanthus, Cataract, Palpebral edema, Brushfield spots, Upslanted palpebral fissure, Pigmentary ...	OMIM:214110
Waardenburg Syndrome, Type 1	Telecanthus, White eyelashes, White eyebrow, Partial albinism, Synophrys, Blue irides, Premature ...	OMIM:193500
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Conjugated hyperbilirubinemia, Congestive heart failure, Hypoalbuminemia, Hyper...	OMIM:617156
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Cachexia, Nail dystrophy, Nail dysplasia, Hyperpigmentation of the skin	OMIM:175500
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Hyperparathyroidism, Short stature, Abnormal form of the vertebral bodies, Gait disturb...	ORPHA:93160
2Q37 Microdeletion Syndrome	Sparse scalp hair, Short stature, Congenital diaphragmatic hernia, Supernumerary nipple, Sparse e...	ORPHA:1001
Rothmund-Thomson Syndrome	Calcinosis, Sparse eyelashes, Alopecia totalis, Small for gestational age, Short stature, Sparse ...	ORPHA:2909
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia, Increased total bilirubin	ORPHA:90036
Cholestasis, Progressive Familial Intrahepatic, 5	Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration	OMIM:617049
H Syndrome	Abnormal eyebrow morphology, Alopecia, Short stature, Delayed puberty, Upper eyelid edema, Campto...	ORPHA:168569
De Barsy Syndrome	Epicanthus, Cataract, Corneal opacity, Kyphoscoliosis, Athetosis, Progressive cerebellar ataxia, ...	ORPHA:2962
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Ataxia, Hyperammonemia, Hyperproli...	ORPHA:3008
Craniofrontonasal Syndrome	Ridged nail, Curly hair, Telecanthus, Split nail, Short stature, Congenital diaphragmatic hernia,...	OMIM:304110
Sanjad-Sakati Syndrome	Corneal opacity, Spinal canal stenosis, Astigmatism, Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content	ORPHA:228302
Mucopolysaccharidosis, Type Iva	Waddling gait, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proc...	OMIM:253000
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyper...	OMIM:251880
Satoyoshi Syndrome	Short stature, Hyperlordosis, Abnormal hair morphology, Sparse or absent eyelashes, Hypoplasia of...	ORPHA:3130
Acrocallosal Syndrome	Cryptorchidism, Congenital diaphragmatic hernia	ORPHA:36
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair, Ataxia, Inability to walk, Congestive heart failure, Hypertrophic cardi...	ORPHA:70472
Localized Scleroderma	Skeletal muscle atrophy, Abnormal skin adnexa morphology, Flexion contracture, Hypopigmented skin...	ORPHA:90289
Ablepharon Macrostomia Syndrome	Absent eyebrow, Ablepharon, Corneal opacity, Abnormal hair pattern, Absent eyelashes, Corneal ero...	ORPHA:920
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Abnormality of the diaphragm, Testicular atrophy, Congenital diaphragmatic hernia	OMIM:601163
Encephalocraniocutaneous Lipomatosis	Linear hyperpigmentation, Alopecia, Sclerocornea, Hypoplasia of the iris, Eyelid coloboma, Limbal...	OMIM:613001
Fumarase Deficiency	Conjunctival icterus, Hyperbilirubinemia	OMIM:606812
Cholestasis, Progressive Familial Intrahepatic, 1	Conjugated hyperbilirubinemia, Epistaxis	OMIM:211600
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Corneal arcus, Hypercholesterolemia	OMIM:144010
Snakebite Envenomation	Hypopituitarism, Rhabdomyolysis, Muscle fiber necrosis	ORPHA:449285
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Lacrimal duct atresia...	OMIM:106260
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Decreased response to growth hormone stimulation test, Pineal cyst, Hypopigm...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Decreased response to growth hormone stimulation test, Pineal cyst, Hypopigm...	ORPHA:363958
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair, Failure to thrive	OMIM:605676
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance, Congenital con...	OMIM:619036
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Short neck, Aniridia, Downslanted palpebral fissures, Iris coloboma	ORPHA:251038
Myasthenia, Limb-Girdle, Autoimmune	Ptosis, Type 2 muscle fiber atrophy, Proximal amyotrophy	OMIM:159400
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Mucopolysaccharidosis Type 3	Cataract, Corneal opacity, Thick hair, Ataxia, Synophrys, Atrioventricular block, Abnormal form o...	ORPHA:581
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal eyelid morphology, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormal verteb...	ORPHA:2273
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Myotubular Myopathy With Abnormal Genital Development	Bilateral cryptorchidism, Myopathy, Unilateral cryptorchidism, Centrally nucleated skeletal muscl...	OMIM:300219
Ataxia-Telangiectasia-Like Disorder 2	Conjunctival telangiectasia, Ataxia, Short stature, Congenital diaphragmatic hernia, Absent puber...	OMIM:615919
Ogden Syndrome	Epicanthus, Premature atrial contractions, Abnormal eyelid morphology, Sparse eyebrow, Bilateral ...	OMIM:300855
Dyskeratosis Congenita	Neoplasm of the pancreas, Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, ...	ORPHA:1775
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Epicanthus, Absent nipple, Thoracic scoliosis, Sparse eyebrow, Lacrimal duct aplasia, Pulmonary a...	OMIM:620186
Atypical Werner Syndrome	Skeletal muscle atrophy, Abnormal hair whorl, Premature graying of hair, Alopecia, Short stature,...	ORPHA:79474
Focal Dermal Hypoplasia	Alopecia, Camptodactyly of finger, Diastasis recti, Congenital diaphragmatic hernia, Abnormality ...	ORPHA:2092
Melas	Hypoparathyroidism, Ataxia, Short stature, Ragged-red muscle fibers, Myopathy, Pigmentary retinop...	ORPHA:550
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Telecanthus, Corneal opacity, Synophrys, Thin eyebrow, Small nail, Cafe-au-lait spot, Short palpe...	ORPHA:364577
Halperin-Birk Syndrome	Congenital diaphragmatic hernia, Inability to walk, Flexion contracture, Long eyelashes, Intraute...	OMIM:618651
Glycogen Storage Disease Xv	Scapular winging, Type 1 muscle fiber predominance	OMIM:613507
Osteopetrosis, Autosomal Recessive 5	Stillbirth, Hypocalcemia, Hyperbilirubinemia, Mydriasis	OMIM:259720
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Increased variability in muscle fiber diameter, Muscular dystrophy	OMIM:616538
Biotinidase Deficiency	Alopecia, Conjunctivitis, Limb muscle weakness, Ataxia	ORPHA:79241
Ermine Phenotype	Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp...	ORPHA:999
Wilson Disease	Decreased circulating ceruloplasmin concentration, Hypouricemia, Kayser-Fleischer ring, Hypoalbum...	OMIM:277900
Rothmund-Thomson Syndrome Type 1	Calcinosis, Small for gestational age, Alopecia totalis, Hyperpigmentation of the skin, Short sta...	ORPHA:221008
Caroli Disease	Conjugated hyperbilirubinemia, Conjunctival icterus, Abnormal circulating alpha-fetoprotein conce...	ORPHA:53035
Schisis Association	Small for gestational age, Congenital diaphragmatic hernia	ORPHA:63862
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	ORPHA:234
Multicentric Osteolysis, Nodulosis, And Arthropathy	Peripheral opacification of the cornea, Corneal opacity, Hypermelanotic macule, Kyphoscoliosis, G...	OMIM:259600
Duane Retraction Syndrome	Central heterochromia, Patchy hypopigmentation of hair, Blepharophimosis, Short neck, Abnormal pu...	ORPHA:233
Frontonasal Dysplasia 2	Telecanthus, Sparse eyelashes, Alopecia totalis, Blepharophimosis, Bilateral cryptorchidism, Spar...	OMIM:613451
White-Sutton Syndrome	Waddling gait, Facial hypotonia, Short stature, Congenital diaphragmatic hernia, Obesity, Upslant...	OMIM:616364
Ehlers-Danlos Syndrome, Classic-Like	Proximal amyotrophy, Muscle fiber splitting	OMIM:606408
Proboscis Lateralis	Abnormal eyebrow morphology, Epicanthus, Cataract, Corneal opacity, Abnormal nasolacrimal system ...	ORPHA:141099
Caroli Syndrome	Portal hypertension, Conjugated hyperbilirubinemia, Conjunctival icterus, Hematemesis, Melena, Hy...	ORPHA:480520
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Kyphosis, Scoliosis, Intrauterine growth retarda...	ORPHA:2075
Hypercholesterolemia, Familial, 1	Increased LDL cholesterol concentration, Xanthelasma, Corneal arcus	OMIM:143890
Mucolipidosis Iii Alpha/Beta	Aortic regurgitation, Increased serum beta-hexosaminidase, Hyperopic astigmatism, Opacification o...	OMIM:252600
Acrodysostosis 2 With Or Without Hormone Resistance	Red hair, Fair hair, Blue irides, Spinal canal stenosis	OMIM:614613
Congenital Bile Acid Synthesis Defect Type 3	Hyperbilirubinemia	ORPHA:79302
Cholestasis, Benign Recurrent Intrahepatic, 2	Conjugated hyperbilirubinemia	OMIM:605479
Cholestasis, Progressive Familial Intrahepatic, 6	Conjugated hyperbilirubinemia	OMIM:619484
Fucosidosis	Kyphosis, Corneal opacity, Abnormality of the nail, Anterior beaking of lumbar vertebrae	ORPHA:349
Larsen Syndrome	Vertebral fusion, Corneal opacity, Cervical kyphosis, Short nail, Spondylolysis, Scoliosis, Shall...	OMIM:150250
Mucopolysaccharidosis Type 7	Anterior beaking of lower thoracic vertebrae, Corneal opacity, Short neck, Scoliosis, Anterior be...	ORPHA:584
Anemia, Congenital Dyserythropoietic, Type Iv	Unconjugated hyperbilirubinemia, Hypertrophic cardiomyopathy, Reduced haptoglobin level, Hyperbil...	OMIM:613673
Spherocytosis, Type 4	Hyperbilirubinemia	OMIM:612653
Congenital Disorder Of Deglycosylation 1	Corneal opacity, Elevated circulating alpha-fetoprotein concentration, Dysmetria, Athetosis, Scol...	OMIM:615273
Cooper-Jabs Syndrome	Short stature, Scoliosis, Camptodactyly of finger, Congenital diaphragmatic hernia	ORPHA:1488
Mucopolysaccharidosis, Type Vi	Lumbar hyperlordosis, Corneal opacity, Ovoid vertebral bodies, Kyphoscoliosis, Tricuspid regurgit...	OMIM:253200
Hereditary Spherocytosis	Restrictive cardiomyopathy, Ataxia, Hyperbilirubinemia	ORPHA:822
Combined Oxidative Phosphorylation Deficiency 12	Failure to thrive, Ragged-red muscle fibers, Ptosis	OMIM:614924
Isolated Anencephaly	Intrauterine growth retardation, Thymus hyperplasia, Congenital diaphragmatic hernia	ORPHA:563609
Juvenile Dermatomyositis	Calcinosis, Alopecia, Myositis, Palpebral edema, Weight loss	ORPHA:93672
Alpha-Mannosidosis, Adult Form	Aortic regurgitation, Cataract, Corneal opacity, Ataxia	ORPHA:309288
Syndromic Recessive X-Linked Ichthyosis	Corneal opacity	ORPHA:281090
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Deposits immunoreactive to beta-amyloid protein	ORPHA:1020
Coenzyme Q10 Deficiency, Primary, 1	Loss of ambulation, Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeletal muscle,...	OMIM:607426
Linear Nevus Sebaceus Syndrome	Alopecia, Telecanthus, Melanocytic nevus, Growth delay, Vertebral segmentation defect, Adenoma se...	ORPHA:2612
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Vitiligo, Spider hemangioma, Increased total bilirubin	ORPHA:2137
Autoimmune Polyendocrinopathy Type 2	Hypoparathyroidism, Alopecia, Hypopigmented skin patches	ORPHA:3143
Autosomal Recessive Spondylocostal Dysostosis	Short stature, Camptodactyly of finger, Congenital diaphragmatic hernia, Cryptorchidism, Kyphosis...	ORPHA:2311
Oculoauricular Syndrome	Cataract, Sclerocornea, Spina bifida occulta, Nasolacrimal duct obstruction, Developmental catara...	OMIM:612109
Insensitivity To Pain, Congenital, With Anhidrosis	Sparse scalp hair, Postural hypotension with compensatory tachycardia, Keratitis, Corneal scarrin...	OMIM:256800
Johanson-Blizzard Syndrome	Absent lacrimal punctum, Alopecia, Short stature, Abnormal hair pattern, Intrauterine growth reta...	ORPHA:2315
Hereditary Mucoepithelial Dysplasia	Sparse hair, Alopecia, Fine hair	ORPHA:1839
Fibrodysplasia Ossificans Progressiva	Small cervical vertebral bodies, Alopecia, Progressive cervical vertebral spine fusion, Scoliosis	OMIM:135100
Olmsted Syndrome, X-Linked	Posterior blepharitis, Subungual hyperkeratosis, Blepharitis, Alopecia totalis	OMIM:300918
Neurofibromatosis Type 1	Abnormal hair quantity, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Generaliz...	ORPHA:636
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alopecia totalis,...	ORPHA:158687
Mandibulofacial Dysostosis With Alopecia	Alopecia, Sparse eyelashes, Lower eyelid coloboma	OMIM:616367
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Hypoplasia of eyelid, Short stature, Flexion contracture, Abdominal obesity, Hypoplasia...	OMIM:619321
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Broad-based gait, Gait imbalance, Hypopigmentation of the skin, Iris hy...	ORPHA:98795
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Sclerocornea, Dilated cardiomyopathy, Ventricular tachycardia, Lacrimal duct atre...	OMIM:300952
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Broad-based gait, Ataxia, Gait imbalance, Hypopigmentation of the skin,...	ORPHA:411511
Wiedemann-Rautenstrauch Syndrome	Flexion contracture, Hypoplasia of the thymus, Generalized amyotrophy, Absent eyebrow, Alopecia, ...	OMIM:264090
Dehydrated Hereditary Stomatocytosis	Increased circulating ferritin concentration, Pulmonary venous hypertension, Abnormal blood potas...	ORPHA:3202
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Hyperbilirubinemia	OMIM:235700
Limited Cutaneous Systemic Sclerosis	Abnormality of skin pigmentation, Joint contracture of the hand, Foot joint contracture, Hypopigm...	ORPHA:220402
Autosomal Dominant Progressive External Ophthalmoplegia	Ptosis, Ataxia, Facial palsy, Quadriceps muscle weakness, Ragged-red muscle fibers, Limb muscle w...	ORPHA:254892
Omenn Syndrome	Alopecia, Failure to thrive, Aplasia/Hypoplasia of the eyebrow	ORPHA:39041
Moebius Syndrome	Epicanthus, Corneal opacity, Breast aplasia, Multiple cafe-au-lait spots, Blepharitis, Ptosis	ORPHA:570
Degcags Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Sacral dimple, Tachycardia, Abnormal eyela...	OMIM:619488
Fanconi-Bickel Syndrome	Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent...	OMIM:227810
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Adrenal hyperplasia, Increased body weight, Hirsutism	OMIM:615830
Spherocytosis, Type 1	Hyperbilirubinemia	OMIM:182900
Congenital Diaphragmatic Hernia	Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia	ORPHA:2140
Mietens Syndrome	Microcornea, Cataract, Corneal opacity, Sclerocornea	ORPHA:2557
Bile Acid Synthesis Defect, Congenital, 3	Hematochezia, Hyperbilirubinemia	OMIM:613812
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Cachexia, Ragged-red muscle fibers, Weight loss, Distal amyotrophy, Slender build, Ptosis	OMIM:603041
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Cataract, Corneal opacity, Corneal dystrophy, A...	ORPHA:324
Rothmund-Thomson Syndrome Type 2	Calcinosis, Small for gestational age, Alopecia totalis, Hyperpigmentation of the skin, Short sta...	ORPHA:221016
Mixed Connective Tissue Disease	Keratoconjunctivitis sicca, Alopecia, Myositis	ORPHA:809
Spherocytosis, Type 2	Hyperbilirubinemia	OMIM:616649
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea	ORPHA:83461
Autosomal Dominant Robinow Syndrome	Alopecia, Epicanthus, Onychogryposis of fingernail, Camptodactyly of finger, Curly eyelashes, Sho...	ORPHA:3107
Limb-Mammary Syndrome	Absent lacrimal punctum, Alopecia, Absent nipple, Chronic irritative conjunctivitis, Sparse eyebr...	ORPHA:69085
Cystic Echinococcosis	Abnormality of the vertebral column, Hyperbilirubinemia	ORPHA:400
8P23.1 Microdeletion Syndrome	Epicanthus, Short stature, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Weight loss,...	ORPHA:251071
Spondylodysplastic Ehlers-Danlos Syndrome	Beaking of vertebral bodies, Sparse scalp hair, Abnormal vertebral morphology, Corneal opacity, C...	ORPHA:536471
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Hypopigmented ...	ORPHA:3453
Mucopolysaccharidosis Type 1	Corneal opacity, Congestive heart failure, Low anterior hairline, Spinal canal stenosis, Abnormal...	ORPHA:579
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia, Scoliosis	ORPHA:95232
Tyrosinemia Type 2	Corneal opacity, Abnormality of the nail, Ataxia	ORPHA:28378
Fructose-1,6-Bisphosphatase Deficiency	Hyperalaninemia, Tachycardia, Hyperuricemia, Neonatal hyperbilirubinemia	ORPHA:348
Emanuel Syndrome	Torticollis, Congenital diaphragmatic hernia, Cryptorchidism, Kyphosis, Upslanted palpebral fissu...	OMIM:609029
Pyruvate Kinase Deficiency Of Red Cells	Reduced haptoglobin level, Unconjugated hyperbilirubinemia	OMIM:266200
Dehydrated Hereditary Stomatocytosis 2	Hyperbilirubinemia	OMIM:616689
Vitamin D-Dependent Rickets, Type 2A	Epicanthus, Growth delay, Secondary hyperparathyroidism, Difficulty walking, Failure to thrive, A...	OMIM:277440
Mosaic Trisomy 9	Corneal opacity, Short neck, Hemivertebrae, Upslanted palpebral fissure, Small nail, Scoliosis	ORPHA:99776
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia, Streak ovary	OMIM:241090
Genetic Recurrent Myoglobinuria	Proximal muscle weakness in upper limbs, Myositis, Viral infection-induced rhabdomyolysis, Diffic...	ORPHA:99845
Rh Deficiency Syndrome	Tachycardia, Reduced haptoglobin level, Hyperbilirubinemia	ORPHA:71275
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Alstrom Syndrome	Alopecia, Short stature, Decreased response to growth hormone stimulation test, Kyphosis, Multino...	OMIM:203800
Oculoectodermal Syndrome	Epicanthus, Transient ischemic attack, Supernumerary nipple, Short neck, Hyperpigmented streaks, ...	OMIM:600268
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Hemochromatosis, Type 1	Alopecia, Testicular atrophy, Hyperpigmentation of the skin	OMIM:235200
Cohen Syndrome	Abnormality of retinal pigmentation, Failure to thrive in infancy, Thick hair, Short stature, Abn...	ORPHA:193
Intrahepatic Cholestasis Of Pregnancy	Increased serum bile acid concentration, Hyperbilirubinemia	ORPHA:69665
Non-Syndromic Posterior Hypospadias	Cryptorchidism, Small for gestational age, Congenital diaphragmatic hernia	ORPHA:95706
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia, Obesity, Choreoathetosis, Scoliosis, Failure to thrive, Abnormal...	ORPHA:261197
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypopigmentation of hair, Broad-based gait, Ataxia, Gait imbalance, Scoliosis, Hypopigmentation o...	ORPHA:98794
Sickle Cell Anemia	Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia	ORPHA:232
Cholestasis, Progressive Familial Intrahepatic, 2	Conjugated hyperbilirubinemia	OMIM:601847
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia	OMIM:301083
Autoimmune Lymphoproliferative Syndrome, Type Iii	Alopecia	OMIM:615559
Overlap Myositis	Perifascicular muscle fiber atrophy, Proximal muscle weakness in upper limbs, Distal lower limb m...	ORPHA:206572
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Alopecia, Keratoconjunctivitis, Pigmentary retinopathy, Nail dystrophy, Chole...	OMIM:240300
Congenital Disorder Of Glycosylation, Type Im	Sparse eyebrow, Alopecia, Failure to thrive, Sparse eyelashes	OMIM:610768
Danon Disease	Myocardial necrosis, Lower limb amyotrophy, EMG: myopathic abnormalities, Generalized amyotrophy,...	OMIM:300257
Pediatric Systemic Lupus Erythematosus	Alopecia, Myositis	ORPHA:93552
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Sparse eyebrow, Sparse scalp hair, Abnormality of skin pigmentation, Nail dysplasia	OMIM:225050
Alopecia-Intellectual Disability Syndrome 4	Bilateral cryptorchidism, Alopecia	OMIM:618840
Lipoid Proteinosis Of Urbach And Wiethe	Patchy alopecia	OMIM:247100
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Rhizomelia, Kyphoscoliosis, Sparse eyebrow, Postnatal growth retardation, Hemiv...	OMIM:302960
Graft Versus Host Disease	Tachycardia, Hyperbilirubinemia	ORPHA:39812
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Hyphema, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chambe...	OMIM:221900
Cutis Laxa, Autosomal Dominant 3	Os odontoideum, Corneal opacity, Aortic regurgitation, Developmental cataract	OMIM:616603
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Conjugated hyperbilirubinemia	OMIM:613404
Spastic Paraplegia 29, Autosomal Dominant	Neonatal hyperbilirubinemia	OMIM:609727
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia	OMIM:617093
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Epicanthus, Cafe-au-lait spot, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:618541
Encephalocraniocutaneous Lipomatosis	Alopecia, Corneal opacity, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, A...	ORPHA:2396
Wolf-Hirschhorn Syndrome	Epicanthus, Abnormal vertebral morphology, Sacral dimple, Ataxia, Sclerocornea, Highly arched eye...	ORPHA:280
Overhydrated Hereditary Stomatocytosis	Hyperbilirubinemia, Pulmonary embolism	OMIM:185000
Axial Mesodermal Dysplasia Spectrum	Short stature, Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Vertebral ...	ORPHA:1834
Celiac Disease, Susceptibility To, 1	Alopecia, Ataxia, Short stature, Postnatal growth retardation, Weight loss, Delayed puberty, Fail...	OMIM:212750
Mosaic Trisomy 8	Corneal opacity, Short neck, Hypopigmented skin patches, Vertebral segmentation defect, Scoliosis...	ORPHA:96061
Multiple Sulfatase Deficiency	Hypoplastic vertebral bodies, Corneal opacity, Ataxia	OMIM:272200
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Hypocholesterolemia	OMIM:607765
Giant Cell Arteritis	Alopecia, Ataxia, Hyperhidrosis, Weight loss, Ptosis	ORPHA:397
Phakomatosis Pigmentokeratotica	Rhabdomyosarcoma, Cryptorchidism, Melanocytic nevus, Hyperhidrosis, Patchy alopecia, Pheochromocy...	ORPHA:2874
Axenfeld-Rieger Syndrome, Type 2	Microcornea, Opacification of the corneal stroma, Telecanthus, Anterior chamber synechiae	OMIM:601499
Autosomal Recessive Robinow Syndrome	Alopecia, Epicanthus, Camptodactyly of finger, Cryptorchidism, Kyphosis, Upslanted palpebral fiss...	ORPHA:1507
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Trichorrhexis nodosa, Small nail, Pili torti, Fragile nails, Sparse lateral eyebrow	OMIM:261990
Galloway-Mowat Syndrome 1	Epicanthus, Cataract, Ataxia, Hypoplasia of the iris, Hypoalbuminemia, Opacification of the corne...	OMIM:251300
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Nail dystrophy, Alopecia totalis	ORPHA:1366
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Anhidrosis, Alopecia, Abnormal fingernail morphology, Palmoplantar hyperhidrosis, Sparse hair	ORPHA:659
Microphthalmia With Brain And Digit Anomalies	Cataract, Sclerocornea, Microcornea, Nail dysplasia, Iris coloboma	ORPHA:139471
Hermansky-Pudlak Syndrome 3	Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:614072
Primary Biliary Cholangitis	Orthostatic hypotension, Portal hypertension, Conjugated hyperbilirubinemia, Hypoalbuminemia, Abn...	ORPHA:186
Keutel Syndrome	Alopecia, Short stature	ORPHA:85202
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Muenke Syndrome	Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule, Ptosis	ORPHA:53271
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Premature Aging Syndrome, Penttinen Type	Corneal opacity, Corneal stromal edema, Scoliosis, Shallow orbits, Sparse hair	OMIM:601812
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia	OMIM:616576
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse scalp hair, Sparse eyelashes, Short neck, Sparse eyebrow, Fine hair, Cleft vertebral arch,...	OMIM:210710
Darier Disease	Hypermelanotic macule, Abnormal hair morphology, Abnormality of skin pigmentation, Abnormality of...	ORPHA:218
Mullegama-Klein-Martinez Syndrome	Short stature, Facial palsy, Congenital diaphragmatic hernia, Curly eyelashes, Unsteady gait, Low...	OMIM:301022
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Platyspondyly, Opacification of the corneal stroma	OMIM:601356
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Failure to thrive, Hypoplasia of the musculature, Ankle flexion contracture, Hyp...	ORPHA:2020
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Thyrotoxic Periodic Paralysis	Abnormal muscle fiber morphology, Rhabdomyolysis, Obesity, Weight loss, Hyperhidrosis, Increased ...	ORPHA:79102
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Alopecia, Short stature, Flexion contracture, Mild intrauterine growth retardation, Small nail, S...	OMIM:308050
Vici Syndrome	Epicanthus, Cataract, Hypopigmentation of hair, Elevated circulating creatine kinase concentratio...	OMIM:242840
Kabuki Syndrome	Ptosis, Short stature, Congenital diaphragmatic hernia, Highly arched eyebrow, Cryptorchidism, Ve...	ORPHA:2322
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Alopecia, Decreased response to growth hormone stimulation test, Weaknes...	ORPHA:273
Pelvis-Shoulder Dysplasia	Back pain, Lumbar hyperlordosis, Opacification of the corneal stroma, Spina bifida occulta, Iris ...	OMIM:169550
Adams-Oliver Syndrome	Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Failure to thrive, Hypopl...	ORPHA:974
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Cataract, Corneal opacity, Ataxia, Highly arched eyebrow, Short neck, Platy...	ORPHA:309282
Hypothyroidism Due To Tsh Receptor Mutations	Bradycardia, Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:90673
Ferguson-Bonni Neurodevelopmental Syndrome	Unilateral ptosis, Congenital diaphragmatic hernia	OMIM:619699
Dyskeratosis Congenita, X-Linked	Ridged nail, Split nail, Alopecia, Sparse eyelashes, Ataxia, Short stature, Reticulated skin pigm...	OMIM:305000
Aymé-Gripp Syndrome	Sparse scalp hair, Short stature, Congenital diaphragmatic hernia, Postnatal growth retardation, ...	ORPHA:1272
Immunodeficiency 7	Failure to thrive, Patchy alopecia, Vitiligo	OMIM:615387
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Abnormal vertebral morphology, Hemivertebrae, Iris coloboma, Sclerocornea	ORPHA:77298
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Sacral dimple, Tricuspid regurgitation, Corneal opacity, Abn...	ORPHA:2556
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Thoracic kyphoscoliosis, Decreased muscle mass, Thoracic scoliosis, Elbow flexion contracture, Im...	ORPHA:1900
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Conjugated hyperbilirubinemia	OMIM:208085
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Bile duct proliferation, Sparse hair	OMIM:607626
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Ataxia, Nail pits, Reticular hyperpigmentation, Premature graying of hair,...	OMIM:127550
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Type 2 muscle fiber atrophy, Failure to thrive	OMIM:613845
Hereditary Elliptocytosis	Neonatal hyperbilirubinemia, Hyperbilirubinemia	ORPHA:288
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Corneal opacity, Elevated circulating creatine kinase concentration, Buphthalmos, Peter...	OMIM:236670
Matthew-Wood Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Intrauterine...	ORPHA:2470
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Hypopigmentation of hair, Cataract, Partial albinism, Epistaxis, Ocu...	ORPHA:79430
Congenital Disorder Of Glycosylation, Type Iq	Abnormality of skin pigmentation, Failure to thrive, Hypertrichosis	OMIM:612379
Waardenburg Syndrome, Type 2E	White eyelashes, White eyebrow, Ocular albinism, Blue irides, Hypopigmented skin patches, Hypopla...	OMIM:611584
Yellow Fever	Shock, Low back pain, Elevated circulating creatine kinase concentration, Supraventricular arrhyt...	ORPHA:99829
Systemic Sclerosis	Alopecia, Nail bed telangiectasia, Flexion contracture, Spotty hypopigmentation, Hypohidrosis, Ir...	ORPHA:90291
Chime Syndrome	Epicanthus, Corneal opacity, Fine hair, Upslanted palpebral fissure, Sparse hair, Ptosis	ORPHA:3474
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Telecanthus, Hypopigmentation of hair, Ataxia, Hypopigmented skin pa...	ORPHA:163746
Carpenter Syndrome 1	Telecanthus, Epicanthus, Sacral dimple, Short neck, Microcornea, Opacification of the corneal str...	OMIM:201000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Pigmentary retinopathy, Increased endomysial connective tissue, Flexion contracture, Muscular dys...	OMIM:613154
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Farber Disease	Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma	ORPHA:333
Wilson Disease	Back pain, Kayser-Fleischer ring, Difficulty walking	ORPHA:905
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Short stature, Upslanted palpebral fissure, Patchy alopecia, Sparse hair, Short palpebral fissure	OMIM:617763
Acro-Renal-Mandibular Syndrome	Congenital diaphragmatic hernia, Kyphosis, Hemivertebrae, Scoliosis, Intrauterine growth retardat...	ORPHA:958
Self-Improving Dystrophic Epidermolysis Bullosa	Abnormality of the subungual region, Abnormality of skin pigmentation, Growth delay, Nail dystrop...	ORPHA:79411
Combined Oxidative Phosphorylation Deficiency 55	Skeletal muscle atrophy, Epicanthus, Short stature, Bilateral ptosis, Type 2 muscle fiber predomi...	OMIM:619743
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Failure to thrive	ORPHA:169154
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia	OMIM:300908
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Sparse scalp hair, Cataract, Corneal opacity, Hypoammonemia, Kyphosis, Abnormal pup...	ORPHA:534
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Alopecia, Myositis, Failure to thrive in infancy, Cachexia, Nail dystrophy	ORPHA:37042
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
Rh-Null, Regulator Type	Unconjugated hyperbilirubinemia	OMIM:268150
Neurooculorenal Syndrome	Conjugated hyperbilirubinemia, Iris atrophy, Highly arched eyebrow	OMIM:620305
Mitochondrial Complex I Deficiency, Nuclear Type 1	Skeletal muscle atrophy, Ataxia, Ragged-red muscle fibers, Upslanted palpebral fissure, Growth de...	OMIM:252010
Peroxisome Biogenesis Disorder 1A (Zellweger)	Epicanthus, Cataract, Brushfield spots, Unsteady gait, Upslanted palpebral fissure, Pigmentary re...	OMIM:214100
Isolated Thyroid-Stimulating Hormone Deficiency	Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Brad...	ORPHA:90674
Trisomy 1Q	Camptodactyly of finger, Congenital diaphragmatic hernia, Hypoplastic toenails, Cryptorchidism, D...	ORPHA:261344
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613266
Liver Disease, Severe Congenital	Hyponatremia, Epicanthus, Dry hair, Elevated circulating alpha-fetoprotein concentration, Increas...	OMIM:619991
Serkal Syndrome	Growth delay, Congenital diaphragmatic hernia	ORPHA:139466
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Brittle hair, Ataxia, Ragged-red muscle fibers, Rhabdomyolysis, Failure to thrive, Ptosis	OMIM:124000
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia	OMIM:613986
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia	OMIM:618282
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Failure to thrive	OMIM:304790
Pearson Marrow-Pancreas Syndrome	Punctate keratitis, Hyperbilirubinemia	OMIM:557000
Anemia, Congenital Dyserythropoietic, Type Ia	Hyperbilirubinemia	OMIM:224120
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia	OMIM:600785
Chromosome 15Q25 Deletion Syndrome	Short stature, Congenital diaphragmatic hernia, Cryptorchidism, Synophrys, Growth delay, Intraute...	OMIM:614294
Thakker-Donnai Syndrome	Congenital diaphragmatic hernia, Hemivertebrae, Upslanted palpebral fissure, Long palpebral fissu...	ORPHA:1780
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Albinism, Ocular albinism, Me...	OMIM:203300
Adrenomyeloneuropathy	Frontal balding, Spastic gait, Adrenocorticotropic hormone excess, Fine hair, Abnormality of skin...	ORPHA:139399
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Intracranial hemorrhage, Shallow orbits, Dystrophic fingernails, Absent ey...	ORPHA:740
Elliptocytosis 2	Neonatal hyperbilirubinemia	OMIM:130600
Paroxysmal Nocturnal Hemoglobinuria	Decreased serum iron, Myocardial infarction, Pulmonary embolism, Conjunctival icterus, Hypertensi...	ORPHA:447
Isolated Biliary Atresia	Conjugated hyperbilirubinemia, Xanthelasma	ORPHA:30391
Hardikar Syndrome	Lacrimal duct stenosis, Thoracolumbar scoliosis, Portal hypertension, Hematemesis, Pigmentary ret...	OMIM:301068
Obesity And Hypopigmentation	Red hair	OMIM:620195
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Alopecia totalis, Decreased response to growth hormone stimulation test, Abnormal size ...	ORPHA:293978
Lathosterolosis	Abnormal thoracic spine morphology, Epicanthus, Cataract, Microcornea, Opacification of the corne...	ORPHA:46059
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Keratoconjunctiviti...	ORPHA:238468
Acrorenal-Mandibular Syndrome	Epicanthus, Absent nipple, Congenital diaphragmatic hernia, Kyphoscoliosis, Elbow flexion contrac...	OMIM:200980
Hutchinson-Gilford Progeria Syndrome	Growth delay, Alopecia	OMIM:176670
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Corneal opacity, Kyphosis, Astigmatism, Gait disturbance, Scoliosis, Aortic...	ORPHA:464306
7Q11.23 Microduplication Syndrome	Short stature, Congenital diaphragmatic hernia, Sparse anterior scalp hair, Cryptorchidism, Unste...	ORPHA:96121
Williams Syndrome	Elevated circulating creatine kinase concentration, Myocardial infarction, Hypoplastic toenails, ...	ORPHA:904
Hennekam-Beemer Syndrome	Generalized hyperpigmentation, Short stature, Camptodactyly of finger, Upslanted palpebral fissur...	ORPHA:2135
Scheie Syndrome	Aortic regurgitation, Corneal opacity	ORPHA:93474
Mitchell-Riley Syndrome	Hyperbilirubinemia	OMIM:615710
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Epicanthus, Cataract, Corneal opacity, Abnormality of skin pigmentation, Mu...	ORPHA:1052
Monosomy 9P	Epicanthus, Thin nail, Highly arched eyebrow, Congenital diaphragmatic hernia, Cryptorchidism, Sy...	ORPHA:261112
Obesity Due To Prohormone Convertase I Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71526
Developmental Delay With Or Without Dysmorphic Facies And Autism	Epicanthus, Short stature, Congenital diaphragmatic hernia, Supernumerary nipple, Highly arched e...	OMIM:618454
Bleeding Disorder, Platelet-Type, 21	Alopecia	OMIM:617443
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Nail dystrophy, Onychogryposis	ORPHA:79395
Smith-Lemli-Opitz Syndrome	Epicanthus, Cataract, Hypopigmentation of hair, Sclerocornea, Short neck, Abnormal eyelash morpho...	ORPHA:818
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Mirizzi Syndrome	Tachycardia, Hyperbilirubinemia	ORPHA:521219
Idiopathic Camptocormia	Myositis, Fatty replacement of skeletal muscle, Abnormal muscle fiber dysferlin, Proximal spinal ...	ORPHA:1320
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity	ORPHA:1765
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Corneal opacity, Kyphosis, Astigmatism, Gait disturbance, Scoliosis, Aortic...	ORPHA:464311
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri...	ORPHA:79431
Ophthalmomandibulomelic Dysplasia	Megalocornea, Opacification of the corneal stroma	OMIM:164900
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Telecanthus, Corneal opacity, Synophrys, Thin eyebrow, Small nail, Cafe-au-lait spot, Short palpe...	OMIM:608670
Chédiak-Higashi Syndrome	Hyponatremia, Hypopigmentation of the skin, Abnormality of retinal pigmentation, Hypertriglycerid...	ORPHA:167
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Corneal opacity, Atrial fibrillation...	ORPHA:137675
Galactosialidosis	Conjunctival telangiectasia, Opacification of the corneal stroma	OMIM:256540
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Reynolds Syndrome	Calcinosis, Gastrointestinal hemorrhage, Raynaud phenomenon, Lip telangiectasia, Palmar telangiec...	OMIM:613471
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Vertebral segmentation defect, Congenital diaphragmatic hernia	ORPHA:1120
Craniolenticulosutural Dysplasia	Brittle hair, Short stature, Posterior wedging of vertebral bodies, Abnormality of skin pigmentat...	ORPHA:50814
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration, Corneal crystals	OMIM:219750
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Waddling gait, Skeletal muscle atrophy, Epicanthus, Kyphoscoliosis, Myopathy, Type 1 muscle fiber...	OMIM:614557
Mitochondrial Dna-Associated Leigh Syndrome	Ataxia, Ragged-red muscle fibers, Gait ataxia, Pigmentary retinopathy, Failure to thrive	ORPHA:255210
Hallermann-Streiff Syndrome	Alopecia, Telecanthus, Sparse eyelashes, Proportionate short stature, Abnormality of hair texture...	ORPHA:2108
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Short stature, Hirsutism, Testicular adrenal rest tumor, Polycystic ovaries, Hyperpigme...	ORPHA:90795
Chediak-Higashi Syndrome	Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Ataxia, Silver-gray hair, Ocular albi...	OMIM:214500
Congenital Disorder Of Glycosylation, Type Iim	Hypertension, Epicanthus, Neonatal hyperbilirubinemia, Thick eyebrow	OMIM:300896
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Bradycardia, Hyperbilirubinemia	OMIM:218700
Classical-Like Ehlers-Danlos Syndrome Type 2	Alopecia, Thoracic scoliosis, Kyphoscoliosis, Cryptorchidism, Bilateral ptosis, Kyphosis, Keratoc...	ORPHA:536532
Centrifugal Lipodystrophy	Alopecia	ORPHA:90156
Biotinidase Deficiency	Alopecia, Conjunctivitis, Ataxia	OMIM:253260
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Unilateral ptosis, Congenital diaphragmatic hernia, Highly arched eyebrow, Synophrys, Low anterio...	OMIM:301044
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Small for gestational age, Alopecia totalis, Intrauterine growth retardation	OMIM:618775
Mucopolysaccharidosis Type 6	Kyphosis, Ovoid vertebral bodies, Opacification of the corneal stroma, Short neck	ORPHA:583
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Cataract, Corneal opacity, Entropion, Hypertriglyceridemia, Lagophthalmos, Irr...	ORPHA:3455
Trisomy 18	Abnormality of retinal pigmentation, Epicanthus, Short stature, Camptodactyly of finger, Congenit...	ORPHA:3380
Cockayne Syndrome A	Hip contracture, Dry hair, Anhidrosis, Ataxia, Short stature, Cryptorchidism, Retinal pigment epi...	OMIM:216400
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Myocardial infarction, Elevated circulating creatinine concentration, Hypertension,...	ORPHA:90038
Singleton-Merten Syndrome 1	Waddling gait, Short stature, Onycholysis, Scoliosis, Decreased body weight, Muscle fiber atrophy...	OMIM:182250
Omenn Syndrome	Alopecia, Failure to thrive, Hypoplasia of the thymus	OMIM:603554
Pallister-Killian Syndrome	Congenital diaphragmatic hernia, Flexion contracture, Hyperpigmented streaks, Camptodactyly of 2n...	OMIM:601803
Prader-Willi Syndrome	Hypopigmentation of hair, Almond-shaped palpebral fissure, Kyphosis, Upslanted palpebral fissure,...	OMIM:176270
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Broad-based gait, Corneal opacity, Limb ataxia, Scoliosis, Thor...	ORPHA:2072
Epidermolysis Bullosa, Lethal Acantholytic	Anonychia, Absent fingernail, Alopecia totalis, Alopecia universalis	OMIM:609638
Al-Gazali Syndrome	Corneal opacity, Sclerocornea	OMIM:609465
Insulin-Resistance Syndrome Type B	Alopecia, Enlarged ovaries, Abnormality of body weight, Enlarged polycystic ovaries, Increased bo...	ORPHA:2298
Coloboma, Ocular, Autosomal Dominant	Corneal opacity, Peters anomaly	OMIM:120200
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Patchy alopecia, Failure to thrive in infancy, Alopecia universalis	OMIM:606367
Dubowitz Syndrome	Hypoparathyroidism, Sparse scalp hair, Ptosis, Epicanthus, Telecanthus, Abnormal fingernail morph...	ORPHA:235
Parenteral Nutrition-Associated Cholestasis	Conjugated hyperbilirubinemia, Portal hypertension, Hyperlipidemia, Abnormal circulating fatty-ac...	ORPHA:567983
Turner Syndrome Due To Structural X Chromosome Anomalies	Hypoplastic toenails, Hyperconvex fingernails, Alopecia, Abnormal fingernail morphology, Short st...	ORPHA:99413
Mosaic Monosomy X	Hypoplastic toenails, Hyperconvex fingernails, Alopecia, Abnormal fingernail morphology, Short st...	ORPHA:99228
Monosomy X	Hypoplastic toenails, Hyperconvex fingernails, Alopecia, Abnormal fingernail morphology, Short st...	ORPHA:99226
Turner Syndrome	Hypoplastic toenails, Hyperconvex fingernails, Alopecia, Abnormal fingernail morphology, Short st...	ORPHA:881
Stromme Syndrome	Cataract, Sclerocornea, Microcornea, Stillbirth, Peters anomaly, Iris coloboma	OMIM:243605
Neurocardiofaciodigital Syndrome	Cataract, Sclerocornea, Sparse eyebrow, Narrow palpebral fissure, Sparse hair	OMIM:619869
Mosaic Trisomy 1	Thoracic scoliosis, Hypoplastic thumbnail, Congenital bilateral ptosis, Small nail, Opacification...	ORPHA:1692
Holoprosencephaly	Epicanthus, Failure to thrive in infancy, Highly arched eyebrow, Congenital diaphragmatic hernia,...	ORPHA:2162
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aortic regurgitation, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, Portal hypert...	OMIM:619534
Fryns Syndrome	Corneal opacity, Short neck, Hypoplastic fingernail	ORPHA:2059
Hereditary Acrokeratotic Poikiloderma	Telangiectasia of the skin, Hypopigmented skin patches, Keratoconjunctivitis, Nail dystrophy, Opa...	ORPHA:2907
Cornelia De Lange Syndrome 1	Short stature, Highly arched eyebrow, Curly eyelashes, Congenital diaphragmatic hernia, Cryptorch...	OMIM:122470
Arterial Tortuosity Syndrome	Congenital diaphragmatic hernia, Flexion contracture, Scoliosis, Blepharophimosis, Downslanted pa...	OMIM:208050
Phace Syndrome	Cataract, Sclerocornea, Lens coloboma, Abnormality of the orbital region, Heterochromia iridis, I...	ORPHA:42775
Orofaciodigital Syndrome I	Alopecia, Dry hair, Epicanthus, Telecanthus, Short stature, Pancreatic cysts, Ovarian cyst, Spars...	OMIM:311200
Immunodeficiency, Common Variable, 10	Alopecia totalis, Trachyonychia, Decreased response to growth hormone stimulation test	OMIM:615577
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Epicanthus, Congenital diaphragmatic hernia, Large for gestational age, Hydrocele testis, Choreoa...	OMIM:614080
Orofaciodigital Syndrome Type 1	Alopecia, Brittle hair, Epicanthus, Telecanthus, Ataxia, Pancreatic cysts, Coarse hair, Sparse ha...	ORPHA:2750
Johanson-Blizzard Syndrome	Absent lacrimal punctum, Sparse scalp hair, Increased VLDL cholesterol concentration, Portal hype...	OMIM:243800
Kindler Epidermolysis Bullosa	Corneal opacity, Abnormality of skin pigmentation, Conjunctivitis, Abnormal toenail morphology, E...	ORPHA:2908
Primary Triglyceride Deposit Cardiomyovasculopathy	Increased muscle lipid content, Abnormality of the calf musculature, Skeletal myopathy, Abnormali...	ORPHA:565612
Chronic Graft Versus Host Disease	Alopecia, Flexion contracture, Weight loss, Abnormality of skin pigmentation, Keratoconjunctiviti...	ORPHA:99921
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia	OMIM:229600
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Corneal opacity, Congestive heart failure, Abnormal curvature of the verteb...	ORPHA:90348
Mycophenolate Mofetil Embryopathy	Hypoplastic toenails, Bifid thoracic vertebrae, Eyelid coloboma, Congenital diaphragmatic hernia	ORPHA:268249
Fraser Syndrome 1	Absent eyebrow, Corneal opacity, Absent eyelashes, Extension of hair growth on temples to lateral...	OMIM:219000
Stuve-Wiedemann Syndrome 1	Ovoid vertebral bodies, Short neck, Blotching pigmentation of the skin, Opacification of the corn...	OMIM:601559
Rajab Interstitial Lung Disease With Brain Calcifications 1	Portal hypertension, Hypoalbuminemia, Hypocalcemia, Scoliosis, Unconjugated hyperbilirubinemia	OMIM:613658
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Short neck, Almond-shaped palpebral fissure, Upslanted palpebral fissur...	ORPHA:177907
Distal Deletion 15Q	Small for gestational age, Short stature, Congenital diaphragmatic hernia, Postnatal growth retar...	ORPHA:1596
Pericardial And Diaphragmatic Defect	Aplasia of the left hemidiaphragm, Congenital diaphragmatic hernia	ORPHA:2847
Proteus Syndrome	Decreased muscle mass, Central heterochromia, Abnormal form of the vertebral bodies, Abnormality ...	ORPHA:744
Senior-Boichis Syndrome	Hypertension, Portal hypertension, Increased total bilirubin	ORPHA:84081
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Hyperbilirubinemia	ORPHA:562639
Diamond-Blackfan Anemia 10	Growth delay, Short stature, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia	OMIM:613309
Coffin-Siris Syndrome 1	Sparse scalp hair, Dry hair, Ptosis, Short stature, Congenital diaphragmatic hernia, Postnatal gr...	OMIM:135900
Osteogenesis Imperfecta	Aortic regurgitation, Corneal opacity, Cervical kyphosis, Cerebral hemorrhage, Ataxia, Kyphosis, ...	ORPHA:666
Sarcoidosis	Alopecia, Hyperpigmentation of the skin, Facial palsy, Dacryocystitis, Enlarged lacrimal glands, ...	ORPHA:797
Scalp-Ear-Nipple Syndrome	Epicanthus, Telecanthus, Palpebral edema, Short stature, Sparse axillary hair, Blepharophimosis, ...	OMIM:181270
Autosomal Recessive Faciodigitogenital Syndrome	Telecanthus, Dry hair, Hypopigmentation of hair, Widow's peak, Upslanted palpebral fissure, Coars...	ORPHA:1974
Opitz Gbbb Syndrome	Enlarged ovaries, Telecanthus, Short stature, Congenital diaphragmatic hernia, Cryptorchidism, Wi...	ORPHA:2745
Ectodermal Dysplasia-Skin Fragility Syndrome	Short stature, Hypohidrosis, Nail dystrophy, Difficulty walking, Sparse hair, Failure to thrive, ...	ORPHA:158668
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Conjugated hyperbilirubinemia, Pulmonary insufficiency	OMIM:208500
Focal Dermal Hypoplasia	Ridged nail, Linear hyperpigmentation, Brittle hair, Short stature, Diastasis recti, Supernumerar...	OMIM:305600
Autosomal Dominant Hypocalcemia	Alopecia, Irregular hyperpigmentation, Abnormal fingernail morphology, Abnormality of the nail	ORPHA:428
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Almond-shaped palpebral fissure, Scoliosis, Hypopigmentation of the ski...	ORPHA:98754
Van Den Ende-Gupta Syndrome	Blepharophimosis, Abnormal eyebrow morphology, Sacral dimple, Sclerocornea	OMIM:600920
Microphthalmia, Syndromic 9	Severe short stature, Short stature, Congenital diaphragmatic hernia, Cryptorchidism, Blepharophi...	OMIM:601186
Carney Complex, Type 1	Congestive heart failure, Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesion...	OMIM:160980
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Elbow flexion contracture, Congenital diaphragmatic hernia	OMIM:618022
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Generalized hyperpigmentation, Ataxia, Premature graying of hair, Nail dystrop...	ORPHA:3322
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of hair, Almond-shaped palpebral fissure, Scoliosis, Hypopigmentation of the ski...	ORPHA:98793
Cockayne Syndrome B	Anhidrosis, Dry hair, Severe short stature, Small for gestational age, Ataxia, Abnormal hair morp...	OMIM:133540
C Syndrome	Epicanthus, Failure to thrive in infancy, Short stature, Congenital diaphragmatic hernia, Abnorma...	ORPHA:1308
Microphthalmia, Syndromic 3	Vertebral fusion, Cataract, Sclerocornea, Hemivertebrae, Butterfly vertebrae, Vertebral hypoplasia	OMIM:206900
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of hair, Almond-shaped palpebral fissure, Scoliosis, Hypopigmentation of the ski...	ORPHA:177904
Thrombocytopenia-Absent Radius Syndrome	Fused cervical vertebrae, Cataract, Corneal opacity, Ptosis	OMIM:274000
Gaucher Disease	Ataxia, Corneal opacity, Elevated circulating C-reactive protein concentration, Abnormality of sk...	ORPHA:355
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of hair, Almond-shaped palpebral fissure, Scoliosis, Hypopigmentation of the ski...	ORPHA:177901
Holocarboxylase Synthetase Deficiency	Alopecia	OMIM:253270
Peters Plus Syndrome	Sacral dimple, Cataract, Corneal opacity, Short neck, Microcornea, Upslanted palpebral fissure, P...	ORPHA:709
Diaphragmatic Hernia 2	Agenesis of the diaphragm, Congenital diaphragmatic hernia	OMIM:222400
Sim1-Related Prader-Willi-Like Syndrome	Almond-shaped palpebral fissure, Hypopigmentation of hair, Hypopigmentation of the skin, Scoliosis	ORPHA:398079
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract	OMIM:221800
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Adrenal gland agenesis, Congenital diaphragmatic hernia, Intrauterine growth retardation	OMIM:611812
Pentalogy Of Cantrell	Absent gallbladder, Scoliosis, Congenital diaphragmatic hernia	ORPHA:1335
3Q29 Microdeletion Syndrome	Abnormality of skin pigmentation, Gait disturbance, Six lumbar vertebrae, Failure to thrive, Down...	ORPHA:65286
Acrofacial Dysostosis 1, Nager Type	Sparse lower eyelashes, Short stature, Congenital diaphragmatic hernia, Lower eyelid coloboma, Ab...	OMIM:154400
Distal Deletion 19P	Alopecia, Thick eyebrow	ORPHA:96129
Cornelia De Lange Syndrome	Short stature, Curly eyelashes, Highly arched eyebrow, Congenital diaphragmatic hernia, Cryptorch...	ORPHA:199
Autoimmune Polyendocrinopathy Type 3	Alopecia, Autoimmune hypoparathyroidism, Anterior pituitary dysgenesis, Keratoconjunctivitis sicc...	ORPHA:227982
Mucopolysaccharidosis Type 2, Severe Form	Abnormality of retinal pigmentation, Corneal opacity, Spinal canal stenosis, Heart murmur, Cardio...	ORPHA:217085
Simpson-Golabi-Behmel Syndrome	Vertebral fusion, Epicanthus, Camptodactyly of finger, Congenital diaphragmatic hernia, Supernume...	ORPHA:373
Poland Syndrome	Congenital diaphragmatic hernia, Retinal hamartoma, Cryptorchidism, Kyphosis, Aplasia of the pect...	ORPHA:2911
Oligomeganephronia	Small for gestational age, Congenital diaphragmatic hernia	ORPHA:2260
Autoimmune Polyendocrinopathy Type 4	Keratoconjunctivitis sicca, Alopecia, Anterior pituitary dysgenesis, Vitiligo	ORPHA:227990
Bloom Syndrome	Small for gestational age, Sparse eyelashes, Paronychia, Growth delay, Severe postnatal growth re...	ORPHA:125
Ring Chromosome 13 Syndrome	Epicanthus, Alopecia, Hypoplasia of the gallbladder, Abnormality of skin pigmentation, Growth del...	ORPHA:96176
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Opacification of the corneal stroma	OMIM:215250
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormality of retinal pigmentation, Corneal opacity, Spinal canal stenosis, Heart murmur, Cardio...	ORPHA:217093
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Almond-shaped palpebral fissure, Kyphosis, Scoliosis, Hypopigmentation ...	ORPHA:398069
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Alopecia, Abnormally ossified vertebrae, Severe short stature, Cryptorchidism, Loss of eyelashes,...	ORPHA:2636
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Sclerocornea, Junctional ectopic tachycardia, Pigmentary retinopathy, Peters anomaly, H...	OMIM:309801
Cardiospondylocarpofacial Syndrome	Epicanthus, Telecanthus, Short stature, Congenital diaphragmatic hernia, Upslanted palpebral fiss...	OMIM:157800
Trichotillomania	Alopecia	OMIM:613229
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Alopecia universalis	ORPHA:363618
Pseudo-Torch Syndrome 1	Cataract, Opacification of the corneal stroma	OMIM:251290
Denys-Drash Syndrome	Posterolateral diaphragmatic hernia, Epicanthus, Ovarian gonadoblastoma, Congenital diaphragmatic...	OMIM:194080
Viss Syndrome	Sparse scalp hair, Alopecia, Ptosis, Ectropion, Short stature, Kyphosis, Macroglossia, Scoliosis,...	OMIM:619472
Alkaptonuria	Abnormality of skin pigmentation, Abnormality of the nail, Thickened Achilles tendon, Irregular h...	ORPHA:56
Perlman Syndrome	Cryptorchidism, Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia, La...	OMIM:267000
Syndromic Diarrhea	Aortic regurgitation, Hypopigmentation of hair, Brittle hair, Abnormality of iron homeostasis, Un...	ORPHA:84064
Fryns Syndrome	Short neck, Narrow palpebral fissure, Stillbirth, Small nail, Opacification of the corneal stroma...	OMIM:229850
Roberts-Sc Phocomelia Syndrome	Cataract, Corneal opacity, Short neck, Eyelid coloboma, Stillbirth, Opacification of the corneal ...	OMIM:268300
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Unconjugated hyperbilirubinemia	OMIM:618278
Prader-Willi Syndrome	Hypopigmentation of hair, Almond-shaped palpebral fissure, Hypertension, Scoliosis, Hypopigmentat...	ORPHA:739
Infantile Nephropathic Cystinosis	Abnormal blood ion concentration, Corneal crystals, Pigmentary retinopathy, Abnormal cornea morph...	ORPHA:411629
Vascular Ehlers-Danlos Syndrome	Alopecia, Telecanthus, Hypoplastic lacrimal duct, Epicanthus, Short stature, Abnormality of hair ...	ORPHA:286
Cystinosis, Nephropathic	Hyponatremia, Hypopigmentation of hair, Hypomagnesemia, Retinal pigment epithelial mottling, Redu...	OMIM:219800
Choreoacanthocytosis	Peroneal muscle atrophy, Weight loss, Blepharospasm, Myopathy, Distal amyotrophy, Falls, Muscle f...	ORPHA:2388
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Keratoconjunctivitis	OMIM:269200
Mucopolysaccharidosis Type 2	Abnormality of retinal pigmentation, Irregularity of vertebral bodies, Corneal opacity, Hypertens...	ORPHA:580
Kikuchi-Fujimoto Disease	Alopecia, Palpebral edema, Ataxia, Weight loss, Enlargement of parotid gland	ORPHA:50918
Limb Body Wall Complex	Corneal opacity, Abnormality of the vertebral column, Lens subluxation, Progressive congenital sc...	ORPHA:2369
Cutis Laxa, Autosomal Recessive, Type Ia	Congenital diaphragmatic hernia	OMIM:219100
Woodhouse-Sakati Syndrome	Alopecia, Streak ovary, Decreased response to growth hormone stimulation test, Choreoathetosis, G...	ORPHA:3464
Witteveen-Kolk Syndrome	Medial flaring of the eyebrow, Epicanthus, Unilateral cryptorchidism, Decreased response to growt...	OMIM:613406
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypovolemia, Hypophosp...	ORPHA:411634
Ring Chromosome 7 Syndrome	Unilateral ptosis, Epicanthus, Short stature, Highly arched eyebrow, Bilateral ptosis, Low anteri...	ORPHA:1449
Woodhouse-Sakati Syndrome	Alopecia, Fine hair, Choreoathetosis, Sparse hair, Decreased testicular size	OMIM:241080
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal...	ORPHA:649
Dyskeratosis Congenita, Autosomal Recessive 3	Abnormality of skin pigmentation, Nail dystrophy	OMIM:613988
Yunis-Varon Syndrome	Sparse scalp hair, Cataract, Sparse eyelashes, Sclerocornea, Sparse eyebrow, Renovascular hyperte...	ORPHA:3472
Digeorge Syndrome	Pilonidal sinus, Sclerocornea, Hypocalcemia, Scoliosis, Blepharophimosis, Posterior embryotoxon, ...	OMIM:188400
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Paronychia, Growth delay, Anonychia, Nail dystrophy, Failure to thrive, Abnormality of ...	ORPHA:79404
Colchicine Poisoning	Alopecia	ORPHA:31824
Sympathetic Ophthalmia	Vitiligo, Alopecia, Poliosis	ORPHA:79098
Iniencephaly	Rhizomelia, Congenital diaphragmatic hernia, Hyperlordosis, Absent vertebra, Arthrogryposis multi...	ORPHA:63259
Craniorachischisis	Congenital diaphragmatic hernia	ORPHA:63260
African Trypanosomiasis	Alopecia, Akinesia, Weight loss, Abnormal prolactin level, Choreoathetosis, Conjunctivitis, Gait ...	ORPHA:3385
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Elevated circulating creatine kinase concentration, Buphthalmos, Opacification of the c...	OMIM:253280
Thoracoabdominal Syndrome	Congenital diaphragmatic hernia	OMIM:313850
Diets-Jongmans Syndrome	Cryptorchidism, Short stature, Congenital diaphragmatic hernia	OMIM:618846
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Failure to thrive, Small for gestational age, Congenital diaphragmatic hernia, Aplasia/Hypoplasia...	ORPHA:2255
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Pancreati...	OMIM:600001
Yunis-Varon Syndrome	Sparse scalp hair, Epicanthus, Cataract, Sparse eyelashes, Absent nipple, Sclerocornea, Anterior ...	OMIM:216340
Simpson-Golabi-Behmel Syndrome, Type 1	Epicanthus, Facial hypotonia, Short nail, Supernumerary nipple, Congenital diaphragmatic hernia, ...	OMIM:312870
Relapsing Polychondritis	Alopecia, Conjunctivitis	ORPHA:728
Cutis Laxa, Autosomal Recessive, Type Ib	Narrow palpebral fissure, Downslanted palpebral fissures, Congenital diaphragmatic hernia	OMIM:614437
Pagod Syndrome	Abnormal testis morphology, Short stature, Congenital diaphragmatic hernia	ORPHA:991
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Elevated circulating creatine kinase concentration, Opacification of the corneal stroma	OMIM:615287
Meckel Syndrome	Microcornea, Aplasia/Hypoplasia of the iris, Cataract, Sclerocornea	ORPHA:564
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Opacification ...	ORPHA:79280
Adams-Oliver Syndrome 1	Alopecia, Small nail, Supernumerary nipple	OMIM:100300
Gaucher Disease, Type Iiic	Mitral stenosis, Opacification of the corneal stroma	OMIM:231005
Menkes Disease	Gastrointestinal hemorrhage, Hypopigmentation of hair, Intracranial hemorrhage, Sparse hair, Wool...	ORPHA:565
Systemic Lupus Erythematosus	Alopecia	ORPHA:536
Tetraamelia Syndrome 1	Adrenal gland agenesis, Congenital diaphragmatic hernia	OMIM:273395
Hydrolethalus Syndrome 1	Intrauterine growth retardation, Agenesis of the diaphragm, Adrenal gland dysgenesis	OMIM:236680
Microphthalmia, Syndromic 6	Microcornea, Orbital cyst, Sclerocornea	OMIM:607932
Behcet Syndrome	Patchy alopecia	OMIM:109650

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Barx2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Barx2.

No publications found that use IMPC mice or data for Barx2.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Barx2^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Barx2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Barx2^{tm1c(EUCOMM)Hmgu}	Wild type floxed exon (post-Flp)	Mice
Barx2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Barx2 MGI:109617

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Echo

Adult LacZ

Embryo LacZ

MicroCT E18.5

Auditory Brain Stem Response

Human diseases caused by Barx2 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data