Gene Summary

Name:
frizzled class receptor 4
Synonyms:
Fz4

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
edema Fzd4tm1.1(KOMP)Vlcg HOM E15.5 0.00

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (4 of 4)
Aorta  Section images heterozygote 100% (4 of 4)
Bone marrow  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 50% (2 of 4)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cecum  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (4 of 4)
Colon  Section images heterozygote 100% (2 of 2)
Diaphragm  Section images heterozygote 100% (2 of 2)
Duodenum  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (2 of 4)
Eye  Section images heterozygote 75% (3 of 4)
Gonadal fat pad  Section images heterozygote 50% (1 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 0.0% (0 of 4)
Ileum  Section images heterozygote 100% (2 of 2)
Jejunum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (4 of 4)
Liver  Section images heterozygote 100% (4 of 4)
Lung  Section images heterozygote 100% (4 of 4)
Mesenteric adipose tissue  Section images heterozygote 50% (1 of 2)
Mesenteric lymph node  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 50% (2 of 4)
Ovary  Section images heterozygote 25% (1 of 4)
Oviduct  Section images heterozygote 25% (1 of 4)
Pancreas  Section images heterozygote 100% (4 of 4)
Parathyroid gland  Section images heterozygote 50% (1 of 2)
Parotid gland  Section images heterozygote 100% (2 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 25% (1 of 4)
Prostate gland  Section images heterozygote 50% (2 of 4)
Quadriceps  Section images heterozygote 100% (2 of 2)
Sciatic nerve  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (4 of 4)
Spinal cord  Section images heterozygote 50% (2 of 4)
Spleen  Section images heterozygote 50% (2 of 4)
Stomach  Section images heterozygote 100% (4 of 4)
Sublingual gland  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 25% (1 of 4)
Thymus  Section images heterozygote 50% (2 of 4)
Thyroid gland  Section images heterozygote 75% (3 of 4)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (4 of 4)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 25% (1 of 4)
Vagina  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
White adipose tissue  Section images heterozygote 50% (2 of 4)
Blood N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 50% (2 of 4)
Cartilage tissue N/A heterozygote 0.0% (0 of 4)
Cerebral cortex N/A heterozygote 50% (2 of 4)
Chest bone N/A heterozygote Not available
Gall bladder N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote 0.0% (0 of 4)
Hypothalamus N/A heterozygote 0.0% (0 of 4)
Large intestine N/A heterozygote 50% (2 of 4)
Lower urinary tract N/A heterozygote 50% (2 of 4)
Lymph node N/A heterozygote 0.0% (0 of 4)
Mammary gland N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote 0.0% (0 of 4)
Peyer's patch N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote 50% (2 of 4)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote 0.0% (0 of 4)
Vascular system N/A heterozygote 50% (2 of 4)

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Brain N/A heterozygote 28.57% (2 of 7)
Brain N/A homozygote Ambiguous
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Ear N/A heterozygote 28.57% (2 of 7)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 28.57% (2 of 7)
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote 28.57% (2 of 7)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 28.57% (2 of 7)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 28.57% (2 of 7)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 28.57% (2 of 7)
Forelimb N/A homozygote Ambiguous
Gut N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Handplate N/A heterozygote 28.57% (2 of 7)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 28.57% (2 of 7)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 28.57% (2 of 7)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 28.57% (2 of 7)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 28.57% (2 of 7)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 28.57% (2 of 7)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 28.57% (2 of 7)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 28.57% (2 of 7)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 28.57% (2 of 7)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 28.57% (2 of 7)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Oral cavity N/A heterozygote 28.57% (2 of 7)
Oral cavity N/A homozygote Ambiguous
Chorioallantoic placenta N/A heterozygote 100% (7 of 7)
Chorioallantoic placenta N/A homozygote 100% (2 of 2)
Skeleton N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Skin N/A heterozygote 28.57% (2 of 7)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Tail somite N/A heterozygote 28.57% (2 of 7)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 28.57% (2 of 7)
Tail N/A homozygote Ambiguous
Trachea N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Urinary system N/A heterozygote 100% (2 of 2)
N/A Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 573)
aorta 0.18% (1 of 571)
blood 0.0%
bone marrow 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cecum 3.33% (12 of 360)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
chest bone Unavailable
colon 9.6% (12 of 125)
diaphragm 0.0%
duodenum 1.63% (2 of 123)
epididymis 13.08% (17 of 130)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.35% (2 of 566)
hindlimb 0.0%
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
ileum 9.68% (12 of 124)
jejunum 4.84% (6 of 124)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
stomach pyloric region 0.0%
striatum 0.53% (3 of 567)
sublingual gland 0.0%
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
tongue 3.25% (4 of 123)
trachea 0.53% (3 of 562)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 4.03% (15 of 372)
vascular system 0.0%
vesicular gland 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)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 508)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
placenta 16.67% (7 of 42)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
trachea 1.69% (1 of 59)
urinary system 1.69% (1 of 59)

Associated Images

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

Adult LacZ

LacZ Images Section

200 Images

Embryo LacZ

LacZ images wholemount

36 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Fzd4 mutations

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

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

The table below shows human diseases predicted to be associated to Fzd4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Lipedema
Edema OMIM:614103
Angioedema, Hereditary, 6
Edema of the dorsum of hands, Facial edema, Angioedema OMIM:619363
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Lymphatic Malformation 2
Lymphedema OMIM:611944
Angioedema, Hereditary, 5
Edema of the dorsum of hands, Facial edema, Angioedema OMIM:619361
Acute Zonal Occult Outer Retinopathy
Vitreous inflammatory cells, Macular drusen, Abnormal fundus fluorescein angiography, Retinal pig... ORPHA:284454
Angioedema, Hereditary, 8
Edema of the dorsum of hands, Laryngeal edema, Facial edema, Angioedema OMIM:619367
Cockayne Syndrome
Limb hypertonia, Progressive gait ataxia, Splenomegaly, Diabetes mellitus, Cerebral atrophy, Reti... ORPHA:191
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Waldenström Macroglobulinemia
Hepatomegaly, Gingival bleeding, Epistaxis, Vertigo, Malabsorption, Hearing impairment, Multifoca... ORPHA:33226
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Glutaryl-Coa Dehydrogenase Deficiency
Athetosis, Dystonia, Dysphagia, Rigidity, Subdural hemorrhage, Poor motor coordination, Chorea, V... ORPHA:25
Cockayne Syndrome Type 3
Subdural hemorrhage, Increased blood pressure, Splenomegaly, Premature graying of hair, Conductiv... ORPHA:90324
Lymphedema-Cerebral Arteriovenous Anomaly Syndrome
Lymphedema ORPHA:86914
Incontinentia Pigmenti
Abnormal hair morphology, Dystrophic toenail, Cerebral ischemia, Camptodactyly of finger, Abnorma... ORPHA:464
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Abnormality of the optic nerve, Generalized hyperpigmentation, Rigidity, Aplasia/H... ORPHA:33445
Oculopharyngodistal Myopathy 3
Conductive hearing impairment, Dysphagia, Weakness of facial musculature, Limb muscle weakness, I... OMIM:619473
Riboflavin Transporter Deficiency
Progressive hearing impairment, Hypertension, Dysphagia, Optic disc pallor, Abnormal cranial nerv... ORPHA:97229
Huntington Disease-Like 1
Clumsiness, Gait disturbance, Involuntary movements, Cerebellar atrophy, Frequent falls, Dysmetri... ORPHA:157941
Nemaline Myopathy 2
Cleft palate, Slender build, Calf muscle pseudohypertrophy, Low-set ears, Gait disturbance, High ... OMIM:256030
Familial Drusen
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Granula... ORPHA:75376
Polyhydramnios, Chronic Idiopathic
Polyhydramnios OMIM:263610
Adult-Onset Autosomal Dominant Leukodystrophy
Impaired proprioception, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the ... ORPHA:99027
Cherubism
Marcus Gunn pupil, Optic neuropathy, Macular scar OMIM:118400
Chilblain Lupus 2
Edema OMIM:614415
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Dandy-Walker malformation, Decreased muscle mass, High palate, Subretinal pigment epithelium hemo... ORPHA:357074
Gne Myopathy
Abnormal right hemidiaphragm morphology, Steppage gait, Lower limb amyotrophy, Hip flexor weaknes... ORPHA:602
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza... ORPHA:411527
Dystonia 31
Dysphagia, Arm dystonia, Writer's cramp, Craniofacial dystonia, Difficulty walking, Generalized d... OMIM:619565
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, High palate, Weakness of facial musculature, Dysmetria, Increased muscle glyco... ORPHA:502423
Mohr-Tranebjaerg Syndrome
Global brain atrophy, Oromandibular dystonia, Vestibular dysfunction, Abnormal pyramidal sign, Ca... ORPHA:52368
Classic Pantothenate Kinase-Associated Neurodegeneration
Gait disturbance, Dysphagia, Optic disc pallor, Opisthotonus, Frequent falls, Weight loss, Rod-co... ORPHA:216866
Macular Dystrophy, Dominant Cystoid
Edema, Cystoid macular edema OMIM:153880
Pseudoxanthoma Elasticum
Hypertension, Retinal hemorrhage, Renovascular hypertension, Angina pectoris, Choroidal neovascul... OMIM:264800
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Dysphagia, High palate, Type 2 muscle fiber atrophy, Choreoathetosis, ... OMIM:617519
Stargardt Disease
Abnormality of visual evoked potentials, Aplasia/Hypoplasia of the macula, Retinal pigment epithe... ORPHA:827
Lethal Congenital Contracture Syndrome 5
Small for gestational age, Retinal hemorrhage, Decreased nerve conduction velocity, Flexion contr... OMIM:615368
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Impaired proprioception, Hearing impairment, Corpus callosum atrophy, Type I diabetes mellitus, C... ORPHA:412057
Rift Valley Fever
Paralysis, Retinitis, Gingival bleeding, Spontaneous abortion, Vertigo, Macular edema, Melena, Pa... ORPHA:319251
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pericardial effusion, Polyhydramnios, Pleural effusion, Generalized edema OMIM:618773
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Proximal amyotrophy, Optic atrophy, Cochlear degeneration, Spinocerebellar atrophy, Conjunctival ... ORPHA:95433
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Secondary amenorrhea, Gastroparesis, Muscle fiber necrosis, Premature ovarian insufficiency, Brad... OMIM:157640
Ravine Syndrome
Abnormal auditory evoked potentials, Failure to thrive, Atrophy/Degeneration affecting the brains... ORPHA:99852
Autosomal Recessive Progressive External Ophthalmoplegia
Paresthesia, Optic neuritis, Hearing impairment, Cerebral atrophy, Bradykinesia, Distal sensory i... ORPHA:254886
Trichinellosis
Lethargy, Abnormality of the optic nerve, Dysphagia, Babinski sign, Nausea, Facial palsy, Vertigo... ORPHA:863
Incontinentia Pigmenti
Atrophic, patchy alopecia, Hypoplastic nipples, Eosinophilia, Sparse hair, Breast hypoplasia, Sup... OMIM:308300
Charcot-Marie-Tooth Disease Type 1F
Impaired proprioception, Paresthesia, Fasciculations, Proximal muscle weakness in upper limbs, So... ORPHA:101085
Lymphatic Malformation 3
Lymphedema OMIM:613480
Myopathy, Mitochondrial, And Ataxia
High palate, Distal amyotrophy, Dysmetria, Distal sensory impairment, Hearing impairment, Tremor,... OMIM:617675
Crimean-Congo Hemorrhagic Fever
Myocarditis, Adrenal insufficiency, Subdural hemorrhage, Melena, Parotitis, Splenomegaly, Fascicu... ORPHA:99827
Mohr-Tranebjaerg Syndrome
Dystonia, Dysphagia, Tremor, Spasticity, Abnormal posturing, Progressive sensorineural hearing im... OMIM:304700
Adult Krabbe Disease
Clumsiness, Prolonged brainstem auditory evoked potentials, Hemiplegia, Lower limb muscle weaknes... ORPHA:206448
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Gait disturbance, Abnormal auditory evoked potentials, Myopathy, Ataxia, Increased... OMIM:125250
Myopathy, Distal, With Rimmed Vacuoles
Z-band streaming, Skeletal muscle atrophy, Steppage gait, Internally nucleated skeletal muscle fi... OMIM:617158
Glaucoma 3, Primary Congenital, E
Edema OMIM:617272
Oculopharyngodistal Myopathy
Abnormal morphology of musculature of pharynx, Impaired oropharyngeal swallow response, Proximal ... ORPHA:98897
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Central nervous system degeneration, Telangiectasia, Vasculitis in the skin, Raynaud phenomenon, ... OMIM:192315
White Sponge Nevus 2
Edema OMIM:615785
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Retinal dysplasia OMIM:615041
Christianson Syndrome
Dystonia, Dysphagia, Cerebellar atrophy, Cachexia, Decreased muscle mass, Neuronal loss in centra... ORPHA:85278
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Optic atrophy, Cerebellar atrophy, Amenorrhea, Ataxia, Premature ovarian insufficiency, Difficult... OMIM:619425
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Peripapillary atrophy, Macular degene... OMIM:618195
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Cerebral hemorrhage, Hypertrophic cardiomyopathy, Bloody diarrhea, Intracranial hemorrhage, Hip c... ORPHA:464321
Pseudoxanthoma Elasticum
Hypertension, High palate, Retinal hemorrhage, Angina pectoris, Restrictive cardiomyopathy, Hemip... ORPHA:758
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Macular degeneration, Macular hemorrhage, Foveal hy... OMIM:603075
Premature Ovarian Failure 19
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency OMIM:619245
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Paresthesia, Small intestinal dysmotility, Diarrhea, V... ORPHA:298
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Cachexia, Gastrointestinal dysmotility, Weight loss, Slender build, Malabsorption, Hearing impair... OMIM:613662
Hereditary Myopathy With Early Respiratory Failure
Necrotizing myopathy, Gait disturbance, Muscle fiber hypertrophy, Skeletal muscle atrophy, Intern... ORPHA:178464
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Childhood-Onset Nemaline Myopathy
Clumsiness, Generalized limb muscle atrophy, High palate, Type 1 muscle fiber predominance, Incre... ORPHA:171439
Juvenile Huntington Disease
Dystonia, Cerebellar atrophy, Rigidity, Chorea, Weight loss, Myoclonus, Bradykinesia, Cerebellar ... ORPHA:248111
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Dysphagia, Pelvic girdle muscle weakness, Autophagic vacuoles, Hip flexor weakness, Facial hypoto... ORPHA:266
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Bilateral sensorineural hearing impairment, Reduced s... OMIM:611102
Exudative Vitreoretinopathy 2, X-Linked
Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... OMIM:305390
Pseudoxanthoma Elasticum, Forme Fruste
Cerebral hemorrhage, High, narrow palate, High palate, Retinal hemorrhage, Angina pectoris, Macul... OMIM:177850
Juvenile Amyotrophic Lateral Sclerosis
Oromandibular dystonia, Contractures of the joints of the upper limbs, Clonus, Opisthotonus, Amyo... ORPHA:300605
Alpha-B Crystallin-Related Late-Onset Myopathy
Dysphagia, Facial diplegia, Autophagic vacuoles, Cardiomyopathy, EMG: myopathic abnormalities, In... ORPHA:399058
Vici Syndrome
Dilated cardiomyopathy, Myopathy, Cleft palate, Ocular albinism, Failure to thrive, Hypopigmentat... OMIM:242840
Classic Galactosemia
Clumsiness, Secondary amenorrhea, Gait imbalance, Decreased serum insulin-like growth factor 1, M... ORPHA:79239
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Optic atrophy, Dysphagia, Ragged-red muscle fibers, Impaired distal proprioception, Mitral regurg... OMIM:258450
Spinocerebellar Ataxia 48
Dystonia, Dysphagia, Cerebellar atrophy, Cachexia, Babinski sign, Dysmetria, Chorea, Tremor, Atax... OMIM:618093
Late-Infantile/Juvenile Krabbe Disease
Clumsiness, Prolonged brainstem auditory evoked potentials, Hemiplegia, EEG with persistent abnor... ORPHA:206443
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Autosomal Recessive Spastic Paraplegia Type 26
Gait disturbance, Dystonia, Babinski sign, Skeletal muscle atrophy, Impaired vibration sensation ... ORPHA:101006
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... ORPHA:891
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Gait disturbance, Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal muscle fib... OMIM:618655
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hypopigmentation of the fundus, Albin... OMIM:600501
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Dysphagia, Type 1 muscle fiber predominance, Skeletal mu... OMIM:613954
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Rimmed vacuoles, Sensorineural hearing impairment, Skeletal muscle autophagoso... OMIM:619518
Fragile X Tremor/Ataxia Syndrome
Postural tremor, Parkinsonism, Cerebellar atrophy, Dysmetria, Bradykinesia, Hearing impairment, I... OMIM:300623
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy, Dis... OMIM:601382
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Gait disturbance, Congenital muscular dystrophy, Hypogonadism, Decrease... ORPHA:1875
Huntington Disease
Clumsiness, Gait imbalance, Decreased body mass index, Cerebral atrophy, Oral-pharyngeal dysphagi... ORPHA:399
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Carcinoma Of Esophagus
Dysphagia, Abnormal intestine morphology, Esophageal neoplasm, Weight loss, Barrett esophagus, Ob... ORPHA:70482
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Cerebellar dysplasia, Retinal dystrophy, Macroglossia, Facial palsy, Cardiomyopathy, Congenital m... OMIM:613155
Bardet-Biedl Syndrome 1
Hirsutism, Gait imbalance, Rod-cone dystrophy, Hearing impairment, Micropenis, Nephrogenic diabet... OMIM:209900
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Tongue fasciculatio... OMIM:601596
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular atrophy, Optic disc pallor, Retinal degeneration, Abnormal auditory evoked potentials, Ce... OMIM:619260
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Peripheral retinal degeneration, Central retinal exudate, Retinal hemorrhage OMIM:264420
Usher Syndrome Type 1
Subcortical cerebral atrophy, Sensorineural hearing impairment, Aplasia/Hypoplasia of the cerebel... ORPHA:231169
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gait disturbance, High palate, Upper limb spasticity, Cerebellar dysplasia, Macrotia, Stereotypy,... ORPHA:457240
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Proximal Myopathy With Extrapyramidal Signs
Central core regions in muscle fibers, Dystonia, Optic atrophy, Involuntary movements, Progressiv... ORPHA:401768
Cach Syndrome
Secondary amenorrhea, Atrophy/Degeneration affecting the brainstem, Optic neuritis, Hepatosplenom... ORPHA:135
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Azoospermia, Abnormality of ... ORPHA:261529
Lymphatic Malformation 9
Predominantly lower limb lymphedema OMIM:619319
Generalized Arterial Calcification Of Infancy
Recurrent spontaneous abortion, Calcification of the auricular cartilage, Choroidal neovasculariz... ORPHA:51608
Tay-Sachs Disease
Clumsiness, Global brain atrophy, Quadriceps muscle atrophy, Fasciculations, Hearing impairment, ... ORPHA:845
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Cochlear degeneration, Ataxia, Progressive sensorineural hearing impairment, Diabetes mellitus, S... OMIM:172500
Gm1 Gangliosidosis
Aplasia/Hypoplasia of the abdominal wall musculature, Retinopathy of prematurity, Hirsutism, Pate... ORPHA:354
Huntington Disease-Like 2
Involuntary movements, Dystonia, Gait disturbance, Caudate atrophy, Chorea, Weight loss, Parkinso... ORPHA:98934
Rhombencephalosynapsis
Aganglionic megacolon, Septo-optic dysplasia, Agenesis of cerebellar vermis, Low-set, posteriorly... ORPHA:59315
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Erythrokeratodermia Variabilis
Abnormal hair morphology, Weight loss, Alopecia, Hearing impairment, Abnormal testis morphology, ... ORPHA:317
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Pyloric stenosis, Babinski sign, Myopathy, Ragged-red muscle fibers, Upper limb amyotrophy, Frequ... OMIM:616924
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Spastic tetraplegia, Hearing impairment OMIM:258700
Retinal Arteries, Tortuosity Of
Retinal arteriolar tortuosity, Retinal hemorrhage OMIM:180000
Granulomatosis With Polyangiitis
Chronic otitis media, Weight loss, Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, R... OMIM:608710
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Retinal arteriolar tortuosity, Supraventricular arrhythmia, Raynaud phenomenon, Retinal hemorrhage OMIM:611773
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy, Myopathy, High palate, Type 1 muscle fiber predominance, Increased muscle... ORPHA:171442
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema OMIM:152900
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Left anterior fascicular block, Shoulder girdle muscle atrophy, Abnormal left ventricular functio... ORPHA:437572
Lymphatic Malformation 10
Lymphedema OMIM:619369
Odontoma-Dysphagia Syndrome
Dysphagia, Abnormal esophagus morphology OMIM:164330
Poretti-Boltshauser Syndrome
Cerebellar cyst, Retinal atrophy, Dilated fourth ventricle, Retinal dystrophy, Cerebellar dysplas... OMIM:615960
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Ataxia, Progressive sensorineural hearing impairment ORPHA:3233
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar dysplasia, Cerebellar hypoplasia OMIM:616531
Vitreoretinopathy, Neovascular Inflammatory
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... OMIM:193235
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Dilated cardiomyopathy, Ragged-red muscle fibers, Impaired distal proprioception, Intestinal pseu... ORPHA:70595
Noonan Syndrome 7
Large earlobe, Hypertrophic cardiomyopathy, Dysphagia, Low-set ears, Pulmonic stenosis, Impaired ... OMIM:613706
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Myopathy, Temporal optic disc pallor, Absent brainstem auditory responses, Cardiom... ORPHA:1215
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dysphagia, Esophageal neoplasm, Morphological abnormality of the gastrointestinal tract, Vomiting... ORPHA:1018
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Progressive hearing impairment, Gait disturbance, Dysphagia, Ragged-red muscle fibers, Limb muscl... OMIM:609286
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Head titubation, Cerebellar dysplasia, Retinal dystrophy, Dilated fourth ventric... ORPHA:370022
Ataxia-Telangiectasia
Gait disturbance, Type II diabetes mellitus, Skeletal muscle atrophy, Failure to thrive, Polycyst... ORPHA:100
Septo-Optic Dysplasia Spectrum
Maternal diabetes, Cleft palate, Diabetes insipidus, Septo-optic dysplasia, Optic nerve hypoplasi... ORPHA:3157
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Ataxia, Hearing impairment OMIM:271250
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Cerebral atrophy, Cryptorchidism, Abnormal posturing, Gastroesop... OMIM:614857
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Falls, Muscle fiber necrosis, Calf muscle hypertrophy, I... OMIM:618848
Benign Schwannoma
Abnormal cranial nerve morphology, Vestibular Schwannoma, Abnormal parotid gland morphology, Faci... ORPHA:252164
Moynahan Syndrome
Cachexia, Alopecia, Sensorineural hearing impairment, Hypogonadism, Sparse hair ORPHA:2574
Spinocerebellar Ataxia Type 13
Clumsiness, Optic atrophy, Dysphagia, Optic disc pallor, Cerebellar atrophy, Torticollis, Myoclon... ORPHA:98768
Neuropathy, Congenital Hypomyelinating, 3
Dystonia, Cachexia, Cerebellar atrophy, High palate, Limb joint contracture, Babinski sign, Facia... OMIM:618186
Cockayne Syndrome Type 1
Contractures involving the joints of the feet, Optic atrophy, Hypertension, Gait disturbance, Hep... ORPHA:90321
Non-Functioning Paraganglioma
Paroxysmal vertigo, Conductive hearing impairment, Cerebral hemorrhage, Nausea, Palpitations, Pul... ORPHA:94080
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Oligomenorrhea, Esophageal varix, Hepatocellular carcinoma, Vomiting,... ORPHA:370
Renpenning Syndrome
Hypospadias, Round ear, High, narrow palate, Cleft palate, Cachexia, Thin eyebrow, Skeletal muscl... ORPHA:3242
Pparg-Related Familial Partial Lipodystrophy
Hypertrophic cardiomyopathy, Secondary amenorrhea, Hypertension, Maternal diabetes, Dysmenorrhea,... ORPHA:79083
Deafness-Infertility Syndrome
Sensorineural hearing impairment, Male infertility, Azoospermia ORPHA:94064
Chudley-Mccullough Syndrome
Cerebellar dysplasia, Cerebellar hypoplasia, Severe sensorineural hearing impairment OMIM:604213
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Dystonia, Esophageal varix, Retinal telangiectasia, Ataxia, Gastrointestinal hemorrhage, Spastici... OMIM:617341
Retinopathy Of Prematurity
Retinal arteriolar tortuosity, Tractional retinal detachment, Small for gestational age, Abnormal... ORPHA:90050
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... OMIM:619566
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Sporadic Infantile Bilateral Striatal Necrosis
Gait disturbance, Dysphagia, Dystonia, Babinski sign, Chorea, Bradykinesia, Resting tremor, Hypom... ORPHA:225147
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Pulmonary edema, Lymphedema OMIM:617300
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal mot... ORPHA:320401
Cerebrotendinous Xanthomatosis
Abnormal auditory evoked potentials, Global brain atrophy, Axonal degeneration, Paraparesis, Abno... ORPHA:909
Coach Syndrome 1
Hypertension, Dystonia, Optic disc pallor, Hepatomegaly, Esophageal varix, Aplasia/Hypoplasia of ... OMIM:216360
Refractory Anemia With Excess Blasts
Palpitations, Abnormal bleeding, Retinal hemorrhage ORPHA:86839
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Increased serum testosterone level, Abnormal vagina morphology, Hirsuti... ORPHA:247768
47,Xyy Syndrome
Oligospermia, Hypospadias, Increased serum testosterone level, Macroorchidism, Dysgenesis of the ... ORPHA:8
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Rimmed vacuoles, Muscula... OMIM:601954
Infantile Krabbe Disease
Hyperesthesia, Hearing impairment, Prolonged brainstem auditory evoked potentials, Opisthotonus, ... ORPHA:206436
Spastic Tetraplegia And Axial Hypotonia, Progressive
Babinski sign, Cerebellar atrophy, Low-set, posteriorly rotated ears, Exaggerated startle respons... OMIM:618598
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Abnormality of male internal genitalia, Male infertil... OMIM:261550
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
High palate, Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnorma... OMIM:618654
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Hepatomegaly, Cerebellar atrophy, Inflammation of the large intestine, Esophageal ... OMIM:614576
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Frequent falls, Macroglossia, Right ventricular hypertrophy, Achilles tendon contracture, Scapula... ORPHA:353
Flynn-Aird Syndrome
Cachexia, Type II diabetes mellitus, Skeletal muscle atrophy, Impaired pain sensation, Alopecia, ... ORPHA:2047
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Skeletal muscle atrophy, Dysmetria, Hearing impairment, Head tremor, Titubati... ORPHA:98771
Eales Disease
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... ORPHA:40923
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypopigmented skin patches, Spastic paraparesis, Absent brainstem auditory responses, Decreased n... OMIM:609136
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Pelvic girdle muscle weakness, Shoulder girdle muscle atrophy, Facial palsy, EMG: myopathic abnor... OMIM:254110
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy, Myopathy, Rimmed vacuoles, Waddling gait, Limb-girdle muscular dystrophy,... OMIM:612937
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Oligomenorrhea, Esophageal varix, Vomiting, Nausea, Failure to thrive... ORPHA:264580
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Aganglionic megacolon, Abnormal intestine morphology, Consti... ORPHA:897
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Idiopathic Aplastic Anemia
Ecchymosis, Epistaxis, Gingival bleeding, Retinal hemorrhage ORPHA:88
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypertrophic cardiomyopathy, Dysphagia, Abnormal reproductive system morphology, Failure to thriv... ORPHA:70472
Retinal Venous Beading
Retinal infarction, Nephritis, Retinal neovascularization, Vitreous hemorrhage, Abnormal distribu... OMIM:180080
Symptomatic Form Of Hemochromatosis Type 1
Cholangiocarcinoma, Hyperpigmentation of the skin, Splenomegaly, Diabetes mellitus, Portal hypert... ORPHA:465508
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi... ORPHA:609
Fanconi Anemia, Complementation Group B
Duodenal atresia, Optic disc hypoplasia, Overfolded helix, Esophageal atresia, Patent ductus arte... OMIM:300514
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Failure to thrive in infancy, Babinski sign, Increased intramyocellular lipid droplets,... OMIM:619065
Cirrhosis, Familial
Hypertension, Pulmonary arterial hypertension, Esophageal varix, Lethargy OMIM:215600
Spinocerebellar Ataxia Type 32
Testicular atrophy, Cerebellar atrophy, Azoospermia, Progressive cerebellar ataxia, Male infertility ORPHA:276183
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Heari... OMIM:601455
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Enlarged cochlear aqueduct, Congenital stationary night blindness,... ORPHA:90646
Arthrogryposis, Distal, Type 2A
High palate, Cerebellar atrophy, Abnormal auditory evoked potentials, Small for gestational age, ... OMIM:193700
Familial Partial Lipodystrophy, Dunnigan Type
Hypertrophic cardiomyopathy, Secondary amenorrhea, Hepatomegaly, Abnormality of skeletal muscle f... ORPHA:2348
Mental Retardation, Autosomal Dominant 48
Hypospadias, Highly arched eyebrow, Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Di... OMIM:617751
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Abnormal esophagus physiology, Dysphagia, Hepatomegaly, Esophageal neoplasm, Abnormal large intes... ORPHA:2198
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Primary gonadal insufficiency, Decreased test... ORPHA:98797
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Dilated cardiomyopathy, Ragged-red muscle fibers, Impaired distal proprioception, Intestinal pseu... OMIM:607459
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hearing impairment, Hypopigmentat... ORPHA:42665
Cockayne Syndrome A
Abnormal auditory evoked potentials, Thymic hormone decreased, Retinal pigment epithelial mottlin... OMIM:216400
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... OMIM:312700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Internally nucleated skeletal muscle fibers, Axonal dege... OMIM:618138
Mantle Cell Lymphoma
Weight loss, Splenomegaly, Abnormality of the gastrointestinal tract ORPHA:52416
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Mitral regurgitation, Sensorineural hearing i... OMIM:616648
Isolated Succinate-Coq Reductase Deficiency
Hypertrophic cardiomyopathy, Babinski sign, Skeletal muscle atrophy, Noncompaction cardiomyopathy... ORPHA:3208
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal motor neuron morphology, Amyotrophic lateral sclerosis, Cranial nerve compression, Cardi... ORPHA:52430
Tsh-Secreting Pituitary Adenoma
Goiter, Ventricular arrhythmia, Abnormality of the menstrual cycle, Decreased female libido, Abno... ORPHA:91347
Diencephalic Syndrome
Optic atrophy, Cachexia, Long penis, Macrotia, Abnormality of the hypothalamus-pituitary axis, De... ORPHA:1672
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... OMIM:619528
Blepharophimosis, Ptosis, And Epicanthus Inversus
Highly arched eyebrow, High palate, Amenorrhea, Sparse pubic hair, Increased circulating gonadotr... OMIM:110100
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... ORPHA:206549
Leptospirosis
Hepatomegaly, Pericarditis, Chorioretinitis, Subconjunctival hemorrhage, Pulmonary hemorrhage, Op... ORPHA:509
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Dysphagia, Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Loss of a... ORPHA:34516
Isochromosomy Yq
Azoospermia, Varicocele, Ambiguous genitalia, Male infertility, Gonadal tissue inappropriate for ... ORPHA:98798
46,Xx Gonadal Dysgenesis
Abnormality of secondary sexual hair, Secondary amenorrhea, Streak ovary, Aplasia/hypoplasia of t... ORPHA:243
Attrv30M Amyloidosis
Vitreous floaters, Atrioventricular block, Weight loss, Cardiomegaly, Cardiomyopathy, Impotence, ... ORPHA:85447
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Ragged-red muscle fibers, Vomiting, Gastrointestinal dysmotility, Weight loss, Intestin... OMIM:603041
Reticular Dysgenesis
Chronic otitis media, Failure to thrive, Weight loss, Malabsorption, Hearing impairment, Aplasia/... ORPHA:33355
Laryngeal Neuroendocrine Tumor
Neuroendocrine neoplasm, Inappropriate antidiuretic hormone secretion, Increased serum serotonin,... ORPHA:100083
Autosomal Spastic Paraplegia Type 58
Babinski sign, Clonus, Cerebellar atrophy, Distal amyotrophy, Torticollis, Dysmetria, Frequent fa... ORPHA:397946
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Adrenocorticotropin deficient adrenal insufficiency, Premature ovarian ... ORPHA:199299
Apert Syndrome
Optic atrophy, Morphological abnormality of the semicircular canal, Chiari malformation, Conducti... ORPHA:87
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Edema, Polyhydramnios, Facial edema, Lymphedema OMIM:618154
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Type 1 muscle fiber predominance, Triceps weakness, Generalized amyotrophy, Cardiomyopa... ORPHA:86812
Cockayne Syndrome B
Abnormal auditory evoked potentials, Abnormal hair morphology, Splenomegaly, Micropenis, Cerebral... OMIM:133540
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Myopathy, Facial palsy, Type 1 fibers relatively smaller than type 2 fibe... OMIM:300580
Hirschsprung Disease
Failure to thrive in infancy, Aganglionic megacolon, Functional abnormality of the gastrointestin... ORPHA:388
Pulmonary Blastoma
Weight loss ORPHA:64741
Ullrich Congenital Muscular Dystrophy 1
High palate, Reduced muscle collagen VI, Torticollis, Failure to thrive, Slender build, Facial pa... OMIM:254090
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Aganglionic megacolon, Abnormal eyebrow morphology, Sensorineural hea... ORPHA:2885
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Gait disturbance, Myopathy, Waddling gait, Increased var... ORPHA:1878
Progeroid Short Stature With Pigmented Nevi
Hypospadias, High-frequency hearing impairment, Vomiting, Small for gestational age, Chordee, Eso... OMIM:176690
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Vomiting, Absent brainstem auditory responses, Vestibular areflexia, Spastic tet... ORPHA:3240
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Dystonia, High palate, Hirsutism, Limb hypertonia, Rigidity, Failure to thrive, Lo... ORPHA:521426
Muscular Dystrophy, Congenital, Merosin-Positive
Myopathy, Facial palsy, Shoulder girdle muscle weakness, Congenital muscular dystrophy, Flexion c... OMIM:609456
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Failure to thrive in infancy, High palate, Axial dysto... OMIM:619026
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Norrie Disease
Stereotypy, Aplasia/Hypoplasia of the cerebellum, Diabetes mellitus, Remnants of the hyaloid vasc... ORPHA:649
Xq21 Microdeletion Syndrome
Dilatated internal auditory canal, Decreased response to growth hormone stimulation test, Anterio... ORPHA:1435
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating progesterone, Hypospadias, Aplasia of the uterus, Bifid scrotum, Elevated c... ORPHA:90793
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar cyst, Cerebellar dysplasia, Hypoplasia of the pons, Optic nerve hypoplasia, Retinal de... OMIM:615181
Myopathy With Extrapyramidal Signs
Clumsiness, Optic atrophy, Dystonia, Hepatomegaly, Clonus, Choreoathetosis, Cerebellar dysplasia,... OMIM:615673
Microphthalmia, Syndromic 3
Hypospadias, Optic nerve hypoplasia, Hypogonadotropic hypogonadism, Esophageal atresia, Patent du... OMIM:206900
Distal Myopathy, Tateyama Type
Clumsiness, Weakness of the intrinsic hand muscles, Palpitations, Calf muscle hypoplasia, EMG: my... ORPHA:488650
Trisomy 18
Abnormality of retinal pigmentation, Chiari malformation, Cleft palate, Cachexia, Abnormal morpho... ORPHA:3380
X-Linked Intellectual Disability, Cabezas Type
Cachexia, High palate, Abnormal earlobe morphology, Abnormal hair pattern, Hypogonadism, Hyperact... ORPHA:85293
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Neurofibromatosis Type 2
Abnormality of the optic nerve, Dysphagia, Wrist drop, Hyperpigmentation of the skin, Facial pals... ORPHA:637
Usher Syndrome Type 3
Sensorineural hearing impairment, Ataxia, Iris hypopigmentation, Vestibular hypofunction, Abnorma... ORPHA:231183
Primary Ciliary Dyskinesia
Conductive hearing impairment, Chronic otitis media, Recurrent otitis media, Abnormal sperm motil... ORPHA:244
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia OMIM:619145
Myopathy, Myofibrillar, 7
Dysphagia, Shoulder flexion contracture, Z-band streaming, Type 2 muscle fiber predominance, Skel... OMIM:617114
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Sporadic Pheochromocytoma/Secreting Paraganglioma
Adrenal pheochromocytoma, Conductive hearing impairment, Paroxysmal vertigo, Extraadrenal pheochr... ORPHA:276621
Hidrotic Ectodermal Dysplasia
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Hyperpigmentation... ORPHA:189
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Isolated Congenital Hypoglossia/Aglossia
Weight loss, Cleft palate, Microglossia ORPHA:141152
Peripheral Primitive Neuroectodermal Tumor
Ovarian neoplasm, Abnormal superior cerebellar peduncle morphology, Torticollis, Weight loss, Ver... ORPHA:370348
Myopathic Ehlers-Danlos Syndrome
Contractures involving the joints of the feet, High, narrow palate, Decreased muscle mass, Should... ORPHA:536516
Retinoblastoma
Retinal calcification, Abnormality of retinal pigmentation, Cleft palate, Subretinal pigment epit... ORPHA:790
Perrault Syndrome 4
Secondary amenorrhea, Cleft palate, Oligomenorrhea, Hypoplasia of the ovary, Increased circulatin... OMIM:615300
Idiopathic Achalasia
Weight loss, Dysphagia, Gastroesophageal reflux ORPHA:930
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Pyloric stenosis, Ankle flexion contracture, Dysphagia, Tongue fasciculations, Weakness of facial... OMIM:619461
Hereditary Pheochromocytoma-Paraganglioma
Paroxysmal vertigo, Extraadrenal pheochromocytoma, Cerebral hemorrhage, Conductive hearing impair... ORPHA:29072
Mogs-Cdg
Optic atrophy, Dystonia, High palate, Hirsutism, Hepatomegaly, Inappropriate antidiuretic hormone... ORPHA:79330
Premature Ovarian Failure 6
Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema... OMIM:612310
Pelizaeus-Merzbacher Disease
Dystonia, Optic atrophy, Gait disturbance, Failure to thrive in infancy, Cachexia, Choreoathetosi... ORPHA:702
Yellow Nail Syndrome
Predominantly lower limb lymphedema, Lymphedema OMIM:153300
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Hepatomegaly, Myopathy, Skeletal muscle atrophy, Esophageal varix, Prolon... ORPHA:367
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, High palate, Minicore myopathy, Limb muscle weakness, EMG: myopathic... ORPHA:486815
Dyskeratosis Congenita
Abnormal morphology of female internal genitalia, Hearing impairment, Splenomegaly, Aplastic/hypo... ORPHA:1775
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Petechiae, Gastrointestinal hemorrhage, Hepatosplenomegaly, Male infertility, Diarr... ORPHA:85450
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Oligospermia, Increased circulating progesterone, Adrenal hyperplasia, Hypospadias, Hirsutism, Fu... ORPHA:95699
Lynch Syndrome
Ovarian neoplasm, Gait disturbance, Neoplasm of the rectum, Paresthesia, Hepatocellular carcinoma... ORPHA:144
Systemic Sclerosis
Right ventricular failure, Syncope, Myocarditis, Gastroparesis, Raynaud phenomenon, Abnormal stom... ORPHA:90291
Mcdonough Syndrome
Cachexia, Aplasia/Hypoplasia of the abdominal wall musculature, Macrotia, Low-set, posteriorly ro... ORPHA:2471
Gerstmann-Straussler Disease
Cerebellar atrophy, Rigidity, Weight loss, Myoclonus, Bradykinesia, Tremor, Truncal ataxia, Aprax... OMIM:137440
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Hypospadias, Highly arched eyebrow, Abnormal earlobe morphology, Congenital sensorineural hearing... ORPHA:500159
Oculopharyngodistal Myopathy 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Dysphagia, High palate, Autophagic vacuoles,... OMIM:164310
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhage, Retinal neova... OMIM:193220
Glossopharyngeal Neuralgia
Syncope, Dysesthesia, Weight loss, Cranial nerve compression, Abnormal glossopharyngeal nerve mor... ORPHA:221098
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Dilated cardiomyopathy, Dysphagia, Skeletal muscle atrophy, Absent toenail, Failure to thrive, De... ORPHA:89842
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Familial Colorectal Cancer Type X
Gait disturbance, Neoplasm of the rectum, Stomach cancer, Hepatocellular carcinoma, Paresthesia, ... ORPHA:440437
Dyskeratosis Congenita, Autosomal Dominant 2
Dilated cardiomyopathy, Failure to thrive, Nail dystrophy, Chronic diarrhea, Nail dysplasia, Reti... OMIM:613989
Sandhoff Disease
Hepatomegaly, Impaired temperature sensation, Skeletal muscle atrophy, Cherry red spot of the mac... OMIM:268800
Cronkhite-Canada Syndrome
Generalized hyperpigmentation, Dystrophic toenail, Splenomegaly, Hypoplastic toenails, Abnormal f... ORPHA:2930
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Distal Monosomy 10Q
Cleft palate, Patent ductus arteriosus, Cerebellar hypoplasia, Hypoplastic toenails, Low-set ears... ORPHA:96148
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb mu... OMIM:619042
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Lactose intolerance, Dysphagia, Vomiting, Nausea, Failure to thrive, Esophageal furrows, Esophagi... ORPHA:411696
Giant Cell Arteritis
Optic atrophy, Conductive hearing impairment, Pericarditis, Diabetes insipidus, Gastrointestinal ... ORPHA:397
Congenital Muscular Dystrophy Due To Lmna Mutation
Gait disturbance, Cachexia, Myopathy, Skeletal muscle atrophy, Congestive heart failure, Flexion ... ORPHA:157973
Addison Disease
Androgen insufficiency, Hyperpigmentation of the skin, Decreased female libido, Adrenal hypoplasi... ORPHA:85138
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Hypoplasia of the pons, Optic disc pallor, Abnormality of visual evoked potentials OMIM:617523
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Ecchymosis, Paralysis, Cachexia, Esophageal varix, Gastric ulcer, Azoospermia, Pulmonary arterial... ORPHA:2072
Sandifer Syndrome
Torticollis, Esophagitis, Hiatus hernia, Abnormal posturing, Hematemesis, Gastroesophageal reflux... ORPHA:71272
Myopathy, Congenital, With Fiber-Type Disproportion
Dilated cardiomyopathy, Dysphagia, High palate, Limb joint contracture, Failure to thrive, Facial... OMIM:255310
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating progesterone, Increased serum testosterone level, Aplasia of the uterus, Hi... ORPHA:90794
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Cerebellar cyst, Cerebellar dysplasia, Hypoplasia of the pons, Retinal... OMIM:613153
Myofibrillar Myopathy 11
Dysphagia, Z-band streaming, Shoulder girdle muscle atrophy, Generalized amyotrophy, EMG: myopath... OMIM:619178
Retinitis Pigmentosa 89
Esophageal varix, Rod-cone dystrophy, Hepatosplenomegaly, Retinal thinning, Hyperautofluorescent ... OMIM:618955
Oculopharyngodistal Myopathy 2
Weakness of facial musculature, EMG: myopathic abnormalities, Rimmed vacuoles, Increased endomysi... OMIM:618940
Huntington Disease-Like 2
Dystonia, Rigidity, Chorea, Weight loss, Bradykinesia, Action tremor OMIM:606438
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Abnormal hair morphology, Long penis, Male infertility, Attention d... ORPHA:3000
Acquired Hypertrichosis Lanuginosa
Fine hair, Ovarian neoplasm, Macroglossia, Weight loss, Abnormal eyebrow morphology, Chronic diar... ORPHA:2221
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Decreased circulating aldosterone level, Adrenal insufficiency, Hypoparathyroidism, Nail dystroph... OMIM:240300
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Increased serum testosterone level, Aplasia of the uterus,... ORPHA:99429
Adams-Oliver Syndrome
Portal hypertension, Esophageal varix, Failure to thrive, Alopecia, Pulmonary arterial hypertensi... ORPHA:974
Severe X-Linked Mitochondrial Encephalomyopathy
Involuntary movements, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, T... ORPHA:238329
Recessive Dystrophic Epidermolysis Bullosa Inversa
Nail dystrophy, Esophageal stricture, Urethral stricture, Gastrointestinal inflammation, Stenosis... ORPHA:79409
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia, Hip contracture, Global brain atrophy, Facial hypotonia, ... OMIM:616801
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Asparagine Synthetase Deficiency
Failure to thrive, Hypoplasia of the pons, Macrotia, Exaggerated startle response, Hypsarrhythmia... OMIM:615574
Eosinophilic Granulomatosis With Polyangiitis
Hypopigmented skin patches, Central nervous system degeneration, Myocarditis, Hypertrophic cardio... ORPHA:183
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Cerebellar vermis hypoplasia, Retinal neovascularization, Cleft palate, Hearing impairment OMIM:619074
Dystonia 1, Torsion, Autosomal Dominant
Writer's cramp, Torticollis, Blepharospasm, Tremor, Hypertonia, Torsion dystonia, Abnormal posturing OMIM:128100
Turner Syndrome Due To Structural X Chromosome Anomalies
Secondary amenorrhea, Inflammation of the large intestine, Hearing impairment, Female infertility... ORPHA:99413
Mosaic Monosomy X
Secondary amenorrhea, Inflammation of the large intestine, Hearing impairment, Female infertility... ORPHA:99228
Monosomy X
Secondary amenorrhea, Inflammation of the large intestine, Hearing impairment, Female infertility... ORPHA:99226
Turner Syndrome
Secondary amenorrhea, Inflammation of the large intestine, Hearing impairment, Female infertility... ORPHA:881
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Myopathy, Skeletal muscle atrophy, Congenital muscular dystrophy, Increased variability in muscle... OMIM:613204
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmented skin patches, Hepatomegaly, Aganglionic megacolon, Constipation, Arthrogryposis mul... ORPHA:163746
African Trypanosomiasis
Abnormal prolactin level, Myocarditis, Third degree atrioventricular block, Impaired propriocepti... ORPHA:3385
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Aganglionic megacolon, Hearing impairment, Sensorineural hearing impa... ORPHA:895
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypertrophic cardiomyopathy, Gait disturbance, Dystonia, Hepatomegaly, Esophageal varix, Rigidity... ORPHA:309854
Sim1-Related Prader-Willi-Like Syndrome
Hypoplastic labia minora, Premature adrenarche, Micropenis, Lethargy, Infertility, Type II diabet... ORPHA:398079
Mirage Syndrome
Hypospadias, Adrenal insufficiency, Intracranial hemorrhage, Petechiae, Paraplegia, Patent ductus... OMIM:617053
Cap Myopathy
Abnormal muscle fiber morphology, High palate, Frequent falls, Lower limb amyotrophy, Facial pals... ORPHA:171881
Trisomy 10P
Dandy-Walker malformation, Decreased muscle mass, Dysphagia, Low voltage EEG, Abnormal auditory e... ORPHA:171929
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Tuberculosis
Weight loss ORPHA:3389
Congenital Multicore Myopathy With External Ophthalmoplegia
High palate, Muscle fiber hypertrophy, Abnormal skeletal muscle morphology, Skeletal muscle atrop... ORPHA:98905
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Weight loss, Cachexia, Gait ataxia OMIM:612075
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Pelvic girdle muscle weakness, Frequent falls, Achilles tendon contracture, Scapular winging, Qua... OMIM:603689
Non-Functioning Pituitary Adenoma
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the menstrual cycle, De... ORPHA:91349
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Hearing impairment, Ambiguous genitalia,... ORPHA:1772
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment, Abnormali... OMIM:601369
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials ORPHA:141
Polymyositis