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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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
Adrenal gland N/A heterozygote 100% (4 of 4)
Aorta N/A heterozygote 100% (4 of 4)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (4 of 4)
Brainstem N/A heterozygote 50% (2 of 4)
Brown adipose tissue N/A heterozygote 100% (2 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 4)
Cecum N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 100% (4 of 4)
Cerebral cortex N/A heterozygote 50% (2 of 4)
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 100% (2 of 2)
Diaphragm N/A heterozygote 100% (2 of 2)
Duodenum N/A heterozygote 100% (2 of 2)
Epididymis N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 50% (2 of 4)
Eye N/A heterozygote 75% (3 of 4)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 50% (1 of 2)
Harderian gland N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 0.0% (0 of 4)
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote 0.0% (0 of 4)
Hypothalamus N/A heterozygote 0.0% (0 of 4)
Ileum N/A heterozygote 100% (2 of 2)
Jejunum N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (4 of 4)
Large intestine N/A heterozygote 100% (4 of 4)
Liver N/A heterozygote 100% (4 of 4)
Lower urinary tract N/A heterozygote 50% (2 of 4)
Lung N/A heterozygote 100% (4 of 4)
Lymph node N/A heterozygote 0.0% (0 of 4)
Mammary gland N/A heterozygote 0.0% (0 of 4)
Mesenteric adipose tissue N/A heterozygote 50% (1 of 2)
Mesenteric lymph node N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote 50% (2 of 4)
Ovary N/A heterozygote 25% (1 of 4)
Oviduct N/A heterozygote 25% (1 of 4)
Pancreas N/A heterozygote 100% (4 of 4)
Parathyroid gland N/A heterozygote 50% (1 of 2)
Parotid gland N/A heterozygote 100% (2 of 2)
Penis N/A heterozygote 50% (1 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 4)
Peyer's patch N/A heterozygote 0.0% (0 of 4)
Pituitary gland N/A heterozygote 25% (1 of 4)
Prostate gland N/A heterozygote 50% (2 of 4)
Quadriceps N/A heterozygote 100% (2 of 2)
Sciatic nerve N/A heterozygote 100% (2 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 4)
Skin N/A heterozygote 100% (4 of 4)
Small intestine N/A heterozygote 100% (4 of 4)
Spinal cord N/A heterozygote 50% (2 of 4)
Spleen N/A heterozygote 50% (2 of 4)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 100% (4 of 4)
Striatum N/A heterozygote 0.0% (0 of 4)
Sublingual gland N/A heterozygote 100% (2 of 2)
Submandibular gland N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 25% (1 of 4)
Thymus N/A heterozygote 50% (2 of 4)
Thyroid gland N/A heterozygote 75% (3 of 4)
Tongue N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (4 of 4)
Trigeminal V nerve N/A heterozygote 100% (2 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 25% (1 of 4)
Vagina N/A heterozygote 50% (1 of 2)
Vas deferens N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 50% (2 of 4)
Vesicular gland N/A heterozygote 50% (1 of 2)
White adipose tissue 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 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
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%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
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 Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
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%
nose Ambiguous
oral cavity 0.0%
placenta Ambiguous
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
trachea Ambiguous
urinary system Ambiguous

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

MicroCT E14.5-E15.5

Embryo reconstruction

8 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
Lipedema
Edema OMIM:614103
Angioedema, Hereditary, 6
Facial edema, Edema of the dorsum of hands, Angioedema OMIM:619363
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Lymphatic Malformation 14
Lymphedema OMIM:620602
Lymphatic Malformation 2
Lymphedema OMIM:611944
Angioedema, Hereditary, 5
Facial edema, Edema of the dorsum of hands, Angioedema OMIM:619361
Acute Zonal Occult Outer Retinopathy
Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar... ORPHA:284454
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Retinal dysplasia OMIM:615041
Cockayne Syndrome
Spasticity, Dry hair, Difficulty walking, Absence of pubertal development, Action tremor, Cryptor... ORPHA:191
Glutaryl-Coa Dehydrogenase Deficiency
Poor motor coordination, Subdural hemorrhage, Vertigo, Chorea, Pallidal degeneration, Limb dyston... ORPHA:25
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Edema OMIM:178400
Cockayne Syndrome Type 3
Dry hair, Premature graying of hair, Difficulty walking, Hepatomegaly, Optic disc pallor, Unstead... ORPHA:90324
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Positive Romberg sign, Mitr... OMIM:258450
Incontinentia Pigmenti
Spasticity, Hypopigmented skin patches, Supernumerary nipple, Abnormal hair morphology, Abnormal ... ORPHA:464
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Reticular pigmentary degenerat... ORPHA:75376
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypoplasia of the pons, Hearing impairment, Abnormal motor evoked potentials, Difficulty walking,... ORPHA:412057
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Spasticity, Cerebral cortical atrophy, Hypopigmentation of the skin, Abnormal opti... ORPHA:33445
Waldenström Macroglobulinemia
Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Diarrhea, Hearing impairme... ORPHA:33226
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Spasticity, Cryptorchidism, Decreased body weight, Hypsarrhythmia, Retinal detachment, Spastic te... OMIM:620371
Dystonia 31
Arm dystonia, Abnormal posturing, Generalized dystonia, Difficulty walking, Leg dystonia, Parkins... OMIM:619565
Riboflavin Transporter Deficiency
Iris hypopigmentation, Cerebral cortical atrophy, Abnormality of macular pigmentation, Skeletal m... ORPHA:97229
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Low-set ears, Spasticity, Coarse hair, Failure to thrive, Decreased muscle mass, Subretinal pigme... ORPHA:357074
Huntington Disease-Like 1
Cerebral cortical atrophy, Involuntary movements, Cerebellar atrophy, Abnormal posturing, Incoord... ORPHA:157941
Cherubism
Marcus Gunn pupil, Optic neuropathy, Macular scar OMIM:118400
Adult-Onset Autosomal Dominant Leukodystrophy
Spasticity, Tetraparesis, Autonomic bladder dysfunction, Action tremor, Distal sensory impairment... ORPHA:99027
Mohr-Tranebjaerg Syndrome
Prelingual sensorineural hearing impairment, Sensorineural hearing impairment, Abnormal pyramidal... ORPHA:52368
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Pigmentary retinopathy, Distal a... OMIM:619473
Macular Dystrophy, Dominant Cystoid
Edema, Cystoid macular edema OMIM:153880
Classic Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Pigmentary retinopathy, Tip-toe gait, Abnormal posturing, Generalized dystonia, Inabi... ORPHA:216866
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Congenital contracture, Subdural hemorrhage, Decrease... OMIM:615368
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Macular degeneration, Choroidal neovascu... OMIM:264800
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased variability in muscle fiber diameter, Pigmentary retinopathy, Dysdiadochokinesis, Somat... ORPHA:502423
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal exudate, Gastrointestinal hemorrhage, Central nervous system degeneration, Macular edema,... OMIM:192315
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Distal amyotrophy, Gastroesophageal reflux, Weakness of facial muscula... OMIM:617519
Fetal Cytomegalovirus Syndrome
Optic atrophy, Petechiae, Chorioretinitis, Sensorineural hearing impairment, Splenomegaly, Hepato... ORPHA:294
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Hearing impairment, Cochlear degeneration, Difficulty walking, Impaired vibration ... ORPHA:95433
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion OMIM:618773
Mohr-Tranebjaerg Syndrome
Spasticity, Progressive sensorineural hearing impairment, Abnormal posturing, Tremor, Intrinsic h... OMIM:304700
Incontinentia Pigmenti
Spasticity, Supernumerary nipple, Hypoplasia of the fovea, Retinal detachment, Sparse hair, Onych... OMIM:308300
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Low-set ears, Gastroesophageal reflux, Blotching pigmentation of the skin, High palate, Hyperhidr... OMIM:614653
Nemaline Myopathy 2
Low-set ears, Increased variability in muscle fiber diameter, Slender build, Limb muscle weakness... OMIM:256030
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Cerebellar atrophy, Abnormal posturing, Generalized dystonia, Inability to walk, M... OMIM:128100
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Spasticity, Abnormal auditory evoked potentials, ... OMIM:125250
Charcot-Marie-Tooth Disease Type 1F
Proximal muscle weakness in lower limbs, Head tremor, Positive Romberg sign, Hand muscle atrophy,... ORPHA:101085
Lymphatic Malformation 3
Lymphedema OMIM:613480
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Pigmentary retinopathy, Distal amyotrophy, Hearin... OMIM:617675
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Diarrhea, Hepatomegaly, Tachycardia, Purpura, Epididymitis, Diffuse alveolar h... ORPHA:99827
Macular Degeneration, Age-Related, 1
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... OMIM:603075
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Bruising susceptibility, Retinopathy, He... ORPHA:758
Trichinellosis
Abnormal optic nerve morphology, Vertigo, Hemiplegia, Central retinal artery occlusion, Hemipares... ORPHA:863
Adult Krabbe Disease
Spasticity, Broad-based gait, Lower limb muscle weakness, Tetraparesis, Impaired tactile sensatio... ORPHA:206448
Gordon Holmes Syndrome
Cerebellar atrophy, Cerebral atrophy, Absence of pubertal development, Chorea, Primary amenorrhea... OMIM:212840
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Hypertrophic card... ORPHA:464321
Christianson Syndrome
Cerebral cortical atrophy, Gastroesophageal reflux, Cerebellar atrophy, Decreased muscle mass, Th... ORPHA:85278
Oculopharyngodistal Myopathy
Vocal cord paresis, Oral-pharyngeal dysphagia, Difficulty walking, Paraplegia, Loss of ambulation... ORPHA:98897
White Sponge Nevus 2
Edema OMIM:615785
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Cerebellar atrophy, Cerebral atrophy, Tetraparesis, Attenuat... OMIM:619260
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Difficulty walking, Amenorrhea, Ata... OMIM:619425
Optic Atrophy 11
Increased variability in muscle fiber diameter, Optic atrophy, Hearing impairment, Cherry red spo... OMIM:617302
Rift Valley Fever
Gingival bleeding, Macular edema, Abnormal bleeding, Vertigo, Hemiparesis, Retinal vasculitis, Pa... ORPHA:319251
Perrault Syndrome 1
Cerebellar atrophy, Gonadal dysgenesis, Gait ataxia, Sensorineural hearing impairment, Primary am... OMIM:233400
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Abnormal vestibular function, Prelingual sensorineural heari... OMIM:616515
Juvenile Huntington Disease
Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Myoclonus, Gait ataxia, ... ORPHA:248111
Pseudoxanthoma Elasticum, Forme Fruste
High, narrow palate, Gastrointestinal hemorrhage, Macular degeneration, Angioid streaks of the fu... OMIM:177850
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Hearing impairment, Slender build, Ragged-red muscle fibers, Gastr... OMIM:613662
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Difficulty walking, Muscle fiber atrophy, Axial dystonia, Opisthot... ORPHA:300605
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... ORPHA:178464
Mitochondrial Neurogastrointestinal Encephalomyopathy
Diarrhea, Decreased muscle mass, Sensorineural hearing impairment, Cachexia, Weight loss, Dysphag... ORPHA:298
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Huntington Disease
Degeneration of the striatum, Oral-pharyngeal dysphagia, Difficulty walking, Weight loss, Clonus,... ORPHA:399
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... OMIM:609129
Spinocerebellar Ataxia 48
Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Cachexia... OMIM:618093
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level OMIM:619009
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va... OMIM:619518
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Increased variability in muscle fiber diameter, Resting tremor, Limb muscle weakness, Rhabdomyoly... OMIM:157640
Late-Infantile/Juvenile Krabbe Disease
Spastic paraparesis, Difficulty walking, Impaired tactile sensation, Loss of ambulation, Tetraple... ORPHA:206443
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration OMIM:615555
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Ravine Syndrome
Spasticity, Abnormal auditory evoked potentials, Failure to thrive, Decreased body weight, Atroph... ORPHA:99852
Huntington Disease-Like 2
Cerebral cortical atrophy, Involuntary movements, Chorea, Parkinsonism, Gait disturbance, Caudate... ORPHA:98934
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Increased variability in muscle fiber diameter, Broad-based gait, Intestinal pseudo-obstruction, ... OMIM:607459
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage, Peripheral retinal degeneration, Central retinal exudate OMIM:264420
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Leukodystrophy, Hypomyelinating, 5
Truncal titubation, Delayed brainstem auditory evoked response conduction time, Decreased motor n... OMIM:610532
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Delayed puberty, Female infertility, Primary amenorrhea OMIM:300604
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter, Chorea, Myoclonus, Optic disc pallor, Athetosis, ... OMIM:617235
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Retinal arteriolar tortuosity, Retinal hemorrhage, Raynaud phenomenon, Supraventricular arrhythmi... OMIM:611773
Charcot-Marie-Tooth Disease, Type 4B1
Distal amyotrophy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials... OMIM:601382
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Tay-Sachs Disease
Hearing impairment, Lower limb muscle weakness, Cherry red spot of the macula, Incoordination, Dy... ORPHA:845
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Neuromuscular dysphagia, Cardiom... ORPHA:171439
Sympathetic Ophthalmia
Macular edema, Alopecia, Hearing impairment, Vitiligo, Vitreous floaters, Tinnitus, Papilledema, ... ORPHA:79098
Usher Syndrome Type 1
Iris hypopigmentation, Cerebral cortical atrophy, Vestibular hypofunction, Sensorineural hearing ... ORPHA:231169
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Recurrent... OMIM:301101
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility, Sensorineural hearing impairment OMIM:608653
Autosomal Dominant Optic Atrophy Plus Syndrome
Spastic paraplegia, Optic atrophy, Cardiomyopathy, Myopathy, Sensorineural hearing impairment, Ab... ORPHA:1215
Lymphatic Malformation 10
Lymphedema OMIM:619369
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Cockayne Syndrome A
Dry hair, Cryptorchidism, Hip contracture, Sensorineural hearing impairment, Arrhythmia, Ataxia, ... OMIM:216400
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Weight loss, Retinal hemorrhage, Localized pulmonary hemorrhage, Chr... OMIM:608710
Opticocochleodentate Degeneration
Optic atrophy, Spastic tetraplegia, Hearing impairment, Cochlear degeneration OMIM:258700
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Gm1 Gangliosidosis
Low-set ears, Spasticity, Cherry red spot of the macula, Hepatosplenomegaly, Abnormal scrotum mor... ORPHA:354
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Cerebellar vermis hypoplasia, Abnormal auditory evoked potentials, Hypoplasia of the pons, Long e... OMIM:617523
Lymphatic Malformation 9
Predominantly lower limb lymphedema OMIM:619319
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Classic Galactosemia
Diarrhea, Incoordination, Speech apraxia, Action tremor, Cryptorchidism, Decreased fertility in f... ORPHA:79239
Retinal Arteries, Tortuosity Of
Retinal hemorrhage, Retinal arteriolar tortuosity OMIM:180000
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Conductive hearing impairment, Sinus tachycardia, Congestive hear... ORPHA:94080
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Spasticity, Vomiting, ... OMIM:616881
Congenital Myopathy 10A, Severe Variant
Increased variability in muscle fiber diameter, Tongue fasciculations, Gastroesophageal reflux, F... OMIM:614399
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Deafness-Infertility Syndrome
Abnormal vestibular function, Abnormal sperm head morphology, Reduced sperm motility, Abnormal sp... OMIM:611102
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Invol... ORPHA:401768
Septo-Optic Dysplasia Spectrum
Obesity, Cryptorchidism, Hemiplegia/hemiparesis, Sensorineural hearing impairment, Aplasia/Hypopl... ORPHA:3157
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:620402
Coach Syndrome 1
Cerebellar vermis hypoplasia, Spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Portal hyp... OMIM:216360
Charcot-Marie-Tooth Disease, Type 4D
Distal amyotrophy, Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve condu... OMIM:601455
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Spasticity, Spastic paraparesis, Hearing impairment, Hypopigmented skin patches, Hepatosplenomega... OMIM:609136
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Muscular dystrophy, Cardiomyopathy, Inability to walk, Cerebellar d... OMIM:613155
Noonan Syndrome 7
Low-set ears, Hypertrophic cardiomyopathy, Large earlobe, Large for gestational age, Low posterio... OMIM:613706
Cockayne Syndrome Type 1
Optic atrophy, Male hypogonadism, Pigmentary retinopathy, Foot joint contracture, Hearing impairm... ORPHA:90321
Vici Syndrome
Low-set ears, Myopathy, Sensorineural hearing impairment, Albinism, High palate, Dysphagia, Cereb... OMIM:242840
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Bardet-Biedl Syndrome 1
Hearing impairment, Rod-cone dystrophy, Ataxia, High palate, Retinal dystrophy, High, narrow pala... OMIM:209900
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Dilated cardiomyo... OMIM:608099
Cerebrotendinous Xanthomatosis
Tendon xanthomatosis, Spasticity, Spastic paraparesis, Resting tremor, Abnormal motor evoked pote... ORPHA:909
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema OMIM:152900
Spinocerebellar Ataxia Type 13
Optic atrophy, Cerebellar atrophy, Hearing impairment, Difficulty walking, Limb ataxia, Myoclonus... ORPHA:98768
Infantile Krabbe Disease
Spasticity, Hearing impairment, Hypopigmented skin patches, Cherry red spot of the macula, Opisth... ORPHA:206436
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter, Cerebellar atrophy, Inability to walk, Gait ataxi... OMIM:617915
Poretti-Boltshauser Syndrome
Cerebellar vermis hypoplasia, Retinal thinning, Cerebellar dysplasia, Dilated fourth ventricle, R... OMIM:615960
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Anterior lenticonus, Uterine neoplasm, Gastroesophageal reflux, Vomiting, Failure to thrive, Vagi... ORPHA:1018
Erythrokeratodermia Variabilis
Alopecia, Irregular hyperpigmentation, Hearing impairment, Abnormal hair morphology, Protruding e... ORPHA:317
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:613954
Rhombencephalosynapsis
Abnormality of the uterus, Low-set, posteriorly rotated ears, Fusion of the cerebellar hemisphere... ORPHA:59315
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Somatic sensory dysfunction, Abnormal motor evoked potential... ORPHA:320401
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Retinal at... ORPHA:370022
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Distal amyotro... OMIM:601596
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Intestinal Dysmotility Syndrome
Low-set ears, Decreased intestinal transit time, Diarrhea, Failure to thrive, Weight loss, High p... OMIM:620045
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment, Ataxia ORPHA:3233
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Cerebellar dysplasia, Decreased testicular... ORPHA:457240
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Inflammation of the large intestine, Cerebellar atrophy, Abnormal bleeding, Cerebr... OMIM:614576
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Spasticity, Premature graying of hair, Portal hypertension, Esophage... OMIM:617341
Refractory Anemia With Excess Blasts
Retinal hemorrhage, Palpitations, Abnormal bleeding ORPHA:86839
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Gastroesophageal reflux, Abnormal posturing, Cerebral atrophy, Failure to thrive, Cryptorchidism,... OMIM:614857
Isolated Succinate-Coq Reductase Deficiency
Abnormal atrioventricular conduction, Spasticity, Distal amyotrophy, Skeletal muscle atrophy, Spa... ORPHA:3208
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Progressive extrapyramidal muscular rigidity, Abnormal posturing, Hemiplegia, Cho... ORPHA:225147
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Falls, F... OMIM:618848
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hypoplasia of the pons, ... OMIM:620542
Retinopathy Of Prematurity
Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachment, Vitreo... ORPHA:90050
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment, Ataxia OMIM:271250
Spermatogenic Failure 20
Male infertility, Short sperm flagella, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Flynn-Aird Syndrome
Cerebral cortical atrophy, Alopecia, Skeletal muscle atrophy, Impaired pain sensation, Progressiv... ORPHA:2047
Benign Schwannoma
Vertigo, Hearing abnormality, Vestibular schwannoma, Abnormal cranial nerve morphology, Intestina... ORPHA:252164
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
EEG with abnormally slow frequencies, Spasticity, Gastroesophageal reflux, Failure to thrive, Gen... ORPHA:70472
Neuropathy, Congenital Hypomyelinating, 3
Low-set ears, Narrow palate, Spasticity, Gastroesophageal reflux, Cerebellar atrophy, Hearing imp... OMIM:618186
Ataxia-Telangiectasia
Spasticity, Skeletal muscle atrophy, Failure to thrive, Aplasia/Hypoplasia of the thymus, Prematu... ORPHA:100
Alexander Disease Type I
Spasticity, Vomiting, Cerebellar atrophy, Failure to thrive, Cachexia, Abnormal pyramidal sign, A... ORPHA:363717
Moynahan Syndrome
Alopecia, Hypogonadism, Sensorineural hearing impairment, Cachexia, Sparse hair ORPHA:2574
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Renpenning Syndrome
High, narrow palate, Iris coloboma, Alopecia, Abnormal hairshaft morphology, Skeletal muscle atro... ORPHA:3242
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Impaired vibratory sensation, Py... OMIM:616924
Waardenburg-Shah Syndrome
Hearing impairment, Abnormal macular morphology, Premature graying of hair, Abnormal eyebrow morp... ORPHA:897
Adult-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Dilated cardiomyopathy, Neuromus... ORPHA:171442
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Frontal balding, Abnormal vagina morphology, Abnormality of the ovary, Fa... ORPHA:247768
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
Myopathy, Distal, 7, Adult-Onset, X-Linked
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:301075
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set ears, Cerebellar atrophy, Fasciculations, Ankle clonus, Babinski sign, Abnormal pyramidal... OMIM:618598
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Impaired vibratory sensation, Dilated cardiomyopa... ORPHA:70595
Fanconi Anemia, Complementation Group B
Low-set ears, Optic disc hypoplasia, Hypogonadism, Cerebellar hypoplasia, Patent ductus arteriosu... OMIM:300514
Generalized Arterial Calcification Of Infancy
Hearing impairment, Adrenal calcification, Sensorineural hearing impairment, Pancreatic calcifica... ORPHA:51608
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Spasticity, Cerebellar atrophy, Facial paralysis, Hypopigmentation of the fundus, Tetraparesis, R... OMIM:175780
Attrv30M Amyloidosis
Atrioventricular block, Diarrhea, Cardiomyopathy, Vitreous floaters, Cardiomegaly, Arrhythmia, Co... ORPHA:85447
Pparg-Related Familial Partial Lipodystrophy
Secondary amenorrhea, Insulin-resistant diabetes mellitus, Congestive heart failure, Hypertrophic... ORPHA:79083
Dyskeratosis Congenita, Autosomal Dominant 3
Gastrointestinal hemorrhage, Alopecia, Hearing impairment, Oral leukoplakia, Premature graying of... OMIM:613990
Idiopathic Aplastic Anemia
Retinal hemorrhage, Epistaxis, Gingival bleeding, Ecchymosis ORPHA:88
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebral cortical atrophy, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Hearing imp... OMIM:620327
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Deafness-Infertility Syndrome
Azoospermia, Male infertility, Sensorineural hearing impairment ORPHA:94064
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Eales Disease
Epistaxis, Macular edema, Spastic paraparesis, Retinal thinning, Peripheral retinal neovasculariz... ORPHA:40923
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Somatic sensory dysfunction, Skeletal muscle atrophy, Hearing impairment, Hea... ORPHA:98771
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Diencephalic Syndrome
Optic atrophy, Long penis, Decreased body weight, Cachexia, Hyperhidrosis, Abnormality of the hyp... ORPHA:1672
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Progressive sensorineural hearing impairment, Stapes ankylosis, Se... ORPHA:90646
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Failure to thrive in infancy, Myoclonus, Babinski... OMIM:619065
Abcd Syndrome
Abnormal auditory evoked potentials, Hearing impairment, Hypopigmentation of the fundus, Large fo... OMIM:600501
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Muscular dystrophy, Hypogonadism, Decreased testicular size, Abnormality of the ovary, Gait distu... ORPHA:1875
Pelizaeus-Merzbacher Disease
Optic atrophy, Spasticity, Cerebral cortical atrophy, Hearing impairment, Bowel incontinence, Fai... ORPHA:702
Spermatogenic Failure 84
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620409
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Abnorm... ORPHA:2198
Spermatogenic Failure 65
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm... OMIM:619712
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Diarrhea, Skeletal muscle atrophy, Vomiting, Cardiomyopathy, Failure to t... ORPHA:264580
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Spermatogenic Failure 56
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:619515
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Weight loss, Splenomegaly ORPHA:52416
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Contractures of the large joints, Failure to thrive, Low-set, posteriorly rotated ... ORPHA:521426
Cockayne Syndrome B
Dry hair, Abnormal hair morphology, Cryptorchidism, Sensorineural hearing impairment, Severe fail... OMIM:133540
Tietz Syndrome
Hypopigmentation of the skin, Hearing impairment, White eyebrow, Abnormality of skin pigmentation... ORPHA:42665
Sandhoff Disease
Spasticity, Skeletal muscle atrophy, Fasciculations, Cherry red spot of the macula, Impaired temp... OMIM:268800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal muscle weakness in l... OMIM:619566
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:301059
Tibial Muscular Dystrophy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... ORPHA:609
Perrault Syndrome 4
Decreased serum estradiol, Progressive sensorineural hearing impairment, Obesity, Gait ataxia, Hy... OMIM:615300
Asparagine Synthetase Deficiency
Cerebellar vermis hypoplasia, Global brain atrophy, Optic nerve hypoplasia, Hypoplasia of the pon... OMIM:615574
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Cerebral cortical atrophy, Spasticity, Failure to thrive, Macrotia, Inability to walk, EEG with g... OMIM:617864
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T... OMIM:618654
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Abnormal auditory evoked potentials, Cerebellar atrophy, Shoulder ... OMIM:193700
Usher Syndrome Type 3
Iris hypopigmentation, Vestibular hypofunction, Sensorineural hearing impairment, Ataxia, Abnorma... ORPHA:231183
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Hearing impairment, Conductive hearing impairment, R... ORPHA:244
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Laryngeal Neuroendocrine Tumor
Increased serum serotonin, Neuroendocrine neoplasm, Oral-pharyngeal dysphagia, Adrenocorticotropi... ORPHA:100083
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... OMIM:612937
Premature Ovarian Failure 22
Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in... OMIM:620548
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism OMIM:261550
Leptospirosis
Hypotension, Diarrhea, Pulmonary hemorrhage, Macular cotton wool spot, Chorioretinitis, Rhabdomyo... ORPHA:509
Autosomal Spastic Paraplegia Type 58
Spasticity, Distal amyotrophy, Cerebellar atrophy, Tip-toe gait, Cerebral atrophy, Frequent falls... ORPHA:397946
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... OMIM:605637
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased muscle mass, Arrhythmia, Elevated jugular venous pressure, Weight loss, Hepatomegaly, H... ORPHA:465508
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Conductive hearing impairment, Sinus tachycardia, Congestive hear... ORPHA:276621
Familial Partial Lipodystrophy, Dunnigan Type
Abnormality of the nail, Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Myo... ORPHA:2348
Xq21 Microdeletion Syndrome
Dilatated internal auditory canal, Sensorineural hearing impairment, Ataxia, Bilateral sensorineu... ORPHA:1435
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Broad-based gait, Increased endomysial connective... ORPHA:353
Spermatogenic Failure 40
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Pierson Syndrome
Skeletal muscle atrophy, Retinal vascular tortuosity, Hypopigmentation of the fundus, Macular hyp... OMIM:609049
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile... OMIM:619585
Spermatogenic Failure 76
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:620084
Apert Syndrome
Optic atrophy, Bifid uvula, Chiari malformation, Conductive hearing impairment, Sensorineural hea... ORPHA:87
Mogs-Cdg
Optic atrophy, Alopecia, Fair hair, External genital hypoplasia, Long eyelashes, Hepatosplenomega... ORPHA:79330
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... OMIM:601954
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Abnormal bleeding, Somatic sensory... ORPHA:370348
Hereditary Pheochromocytoma-Paraganglioma
Weight loss, Paroxysmal vertigo, Paraganglioma of head and neck, Cranial nerve compression, Aniri... ORPHA:29072
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Loss of ambulation, Increased variability in muscle fiber diameter, Flexion contracture, Muscle f... OMIM:300717
Pulmonary Blastoma
Weight loss ORPHA:64741
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:618138
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hypoplasia of the pons, Cerebellar dysplasia, Cerebellar hypoplasia, Retinal detachment, Cerebell... OMIM:615181
Tsh-Secreting Pituitary Adenoma
Periodic hypokalemic paresis, Increased circulating prolactin concentration, Central adrenal insu... ORPHA:91347
Combined Oxidative Phosphorylation Deficiency 58
Low-set ears, Optic atrophy, Vomiting, Cerebellar atrophy, Difficulty walking, Myoclonus, Ragged-... OMIM:620451
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Cerebellar atrophy, Abnormal cerebellum morphology, Gait ataxia, Dysmetria, T... OMIM:618056
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Hirschsprung Disease
Diarrhea, Failure to thrive in infancy, Functional abnormality of the gastrointestinal tract, Neo... ORPHA:388
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:619689
Spinocerebellar Ataxia Type 32
Cerebellar atrophy, Azoospermia, Testicular atrophy, Male infertility, Progressive cerebellar ataxia ORPHA:276183
Retinitis Pigmentosa 89
Retinal thinning, Hepatosplenomegaly, Rod-cone dystrophy, Hyperautofluorescent retinal lesion, Es... OMIM:618955
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... ORPHA:98797
Myasthenic Syndrome, Congenital, 14
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:616228
Idiopathic Achalasia
Gastroesophageal reflux, Dysphagia, Weight loss ORPHA:930
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Diarrhea, Vomiting, Cerebellar hypoplasia, Diffuse cerebral atrophy, Absent brainstem auditory re... ORPHA:3240
Spermatogenic Failure 47
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Myopathy With Extrapyramidal Signs
Optic atrophy, Difficulty walking, Cerebellar dysplasia, Chorea, Splenomegaly, Tremor, Abnormalit... OMIM:615673
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Weight loss, Cleft palate ORPHA:141152
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spermatogenic Failure 39
Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo... OMIM:618643
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Cerebellar atrophy, Interictal EEG abnormality, Positive Romberg sign, Myoclonus, Dysmetria, Inte... OMIM:301310
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Sensorineur... ORPHA:2885
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Giant Cell Arteritis
Vasculitis, Epistaxis, Optic atrophy, Conductive hearing impairment, Hearing impairment, Alopecia... ORPHA:397
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Hearing impairment, Goiter OMIM:617577
Full Nf2-Related Schwannomatosis
Hyperesthesia, Somatic sensory dysfunction, Bilateral vestibular schwannoma, Abnormal optic nerve... ORPHA:637
Isochromosomy Yq
Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Primar... ORPHA:98798
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Highly arched eyebrow, Sparse pubic hair, Female infertility, Cupped ear,... OMIM:110100
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Spastic paraplegia, Decreased motor nerve conduct... OMIM:619026
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
47,Xyy Syndrome
Low-set ears, Varicocele, Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Azoospermia,... ORPHA:8
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Hearing i... ORPHA:189
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Gastroesophageal reflux, Dilated cardiomyopathy, Skeletal muscle atrophy, Irregular hyperpigmenta... ORPHA:89842
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:612997
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Distal amyotrophy, Progressive spastic paraplegia, Difficulty walking, Impaired vi... ORPHA:320406
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:614822
Dyskeratosis Congenita
Hearing impairment, Hypopigmented skin patches, Premature graying of hair, White hair, Displaceme... ORPHA:1775
Trisomy 18
Narrow palate, Chiari malformation, Camptodactyly of finger, Abnormal morphology of female intern... ORPHA:3380
Congenital Myopathy 3 With Rigid Spine
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:602771
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi... ORPHA:91349
Ullrich Congenital Muscular Dystrophy 1A
Increased variability in muscle fiber diameter, Muscular dystrophy, Failure to thrive, Slender bu... OMIM:254090
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Spastic paraplegia, Optic atrophy, Distal amyotrophy, Inability to walk, Ankle clonus, Babinski s... OMIM:609541
Yellow Nail Syndrome
Predominantly lower limb lymphedema, Lymphedema OMIM:153300
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Low-set ears, Elevated circulating luteinizing hormone level, Chiari malformation, Abnormal earlo... ORPHA:95699
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Systemic Sclerosis
Intestinal bleeding, Telangiectasia, Dysphagia, Bowel incontinence, Alopecia, Gastroesophageal re... ORPHA:90291
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hypertr... OMIM:300696
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Abnormal earlobe morphology, Camptodactyly of finger, Hypogonadism, Decreased t... ORPHA:85293
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... OMIM:616313
High-Grade Dysplasia In Patients With Barrett Esophagus
Barrett esophagus, Gastroesophageal reflux, Dysphagia, Esophageal obstruction ORPHA:231080
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:617760
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... OMIM:615424
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Cardiomyopathy, Congestive heart... ORPHA:52430
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... ORPHA:34516
Retinoblastoma
Pineoblastoma, Hyphema, Subretinal pigment epithelium hemorrhage, Retinoblastoma, Abnormality of ... ORPHA:790
Hereditary Amyloidosis With Primary Renal Involvement
Diarrhea, Hepatosplenomegaly, Myopathy, Intestinal obstruction, Weight loss, Oligozoospermia, Hep... ORPHA:85450
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Skeletal muscle atrophy, Failure to thrive, Congestive heart failure, Hep... ORPHA:367
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility OMIM:618670
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Spasticity, High anterior hairline, Somatic sensory dysfunction, Hearing impairment, Adrenal insu... OMIM:615510
Hidrotic Ectodermal Dysplasia, Halal Type
Irregular menstruation, Hearing impairment, Sparse body hair, Supernumerary nipple, Abnormal fing... ORPHA:1809
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Sandifer Syndrome
Gastroesophageal reflux, Abnormal posturing, Esophagitis, Hiatus hernia, Hematemesis, Torticollis... ORPHA:71272
Huntington Disease-Like 2
Cerebral cortical atrophy, Chorea, Action tremor, Rigidity, Dystonia, Weight loss, Bradykinesia OMIM:606438
Gerstmann-Straussler Disease
Spasticity, Cerebellar atrophy, Lower limb muscle weakness, Limb ataxia, Myoclonus, Gait ataxia, ... OMIM:137440
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Inclusion Body Myopathy And Brain White Matter Abnormalities
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:619733
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Cranial nerve compression, Abnormal glossopharyngeal nerve morphology,... ORPHA:221098
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Myopathy, Decreased body weight, Type 1 fibers relatively smaller than ty... OMIM:300580
Mirage Syndrome
Gastroesophageal reflux, Microphallus, Esophageal stricture, Decreased testicular size, Paraplegi... OMIM:617053
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Low-set ears, Spasticity, Global brain atrophy, Cerebral atrophy, Inability to walk, Failure to t... OMIM:616801
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Colonic diverticula, Distal amyotrophy, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Gastro... OMIM:603041
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Cerebellar vermis hypoplasia, Retinal neovascularization, Hearing impairment, Cleft palate OMIM:619074
Atelis Syndrome 2
Low-set ears, Gastroesophageal reflux, Elevated circulating thyroid-stimulating hormone concentra... OMIM:620185
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, Cerebellar atrophy, Cerebral atrophy, Hypertrophi... OMIM:604377
Late-Onset Isolated Acth Deficiency
Hypotension, Diarrhea, Pituitary adenoma, Graves disease, Adrenocorticotropin deficient adrenal i... ORPHA:199299
Deafness, Autosomal Dominant 75
Abnormal cochlea morphology, Sensorineural hearing impairment OMIM:618778
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... OMIM:265300
Norrie Disease
Abnormal helix morphology, Uterine rupture, Cryptorchidism, Sensorineural hearing impairment, Abn... ORPHA:649
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Low-set ears, Optic atrophy, Cerebral cortical atrophy, Contractures of the large joints, Failure... OMIM:617527
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Gastroesophageal reflux, Vomiting, Failure to thrive, Eosinophilic microabscess formation in the ... ORPHA:411696
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Myopathy... ORPHA:1878
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... OMIM:617442
Spinal Muscular Atrophy, Infantile, James Type
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty... OMIM:619042
Congenital Myopathy 20
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:620310
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spastic paraplegia, Broad-based gait, Cholelithiasis, Azoospermia, Limb ataxia, Hepatosplenomegal... ORPHA:2072
Distal Deletion 10Q
Low-set ears, Abnormality of the outer ear, Inferior cerebellar vermis hypoplasia, Spasticity, Cl... ORPHA:96148
Distal Myopathy, Tateyama Type
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... ORPHA:488650
Rett Syndrome
Cerebral cortical atrophy, Spasticity, Gastroesophageal reflux, Skeletal muscle atrophy, Abnormal... OMIM:312750
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Congestive heart failure, Myopathy, Arrhythmia, Gait disturbance, Cachex... ORPHA:157973
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Vomiting, Diarrhea, Failure to thrive, Gait ataxia, Cachexia, Weight loss OMIM:612075
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul...