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 100% (4 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 100% (4 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 100% (4 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 0.68% (4 of 586)
aorta 0.17% (1 of 594)
blood 0.0%
bone marrow 0.0%
brain 0.85% (5 of 586)
brainstem 0.34% (2 of 588)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 590)
cecum 5.63% (21 of 373)
cerebellum 0.51% (3 of 594)
cerebral cortex 0.34% (2 of 588)
chest bone Unavailable
colon 15.83% (22 of 139)
diaphragm 0.0%
duodenum 3.7% (5 of 135)
epididymis 13.79% (20 of 145)
esophagus 1.69% (7 of 415)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.34% (2 of 588)
hindlimb 0.0%
hippocampus 0.34% (2 of 590)
hypothalamus 0.34% (2 of 592)
ileum 14.39% (20 of 139)
jejunum 8.7% (12 of 138)
kidney 4.55% (27 of 593)
large intestine 5.41% (32 of 592)
liver 0.0%
lower urinary tract 0.17% (1 of 586)
lung 0.34% (2 of 581)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 321)
midbrain 0.0%
olfactory lobe 0.34% (2 of 587)
ovary 0.17% (1 of 586)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 566)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 587)
peyers patch 0.0%
pituitary gland 0.17% (1 of 589)
prostate gland 2.04% (12 of 588)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 593)
small intestine 5.43% (32 of 589)
spinal cord 0.51% (3 of 587)
spleen 0.51% (3 of 590)
stomach 3.73% (22 of 590)
stomach pyloric region 0.0%
striatum 0.51% (3 of 583)
sublingual gland 0.0%
submandibular gland 1.4% (2 of 143)
testis 0.85% (5 of 591)
thymus 0.17% (1 of 590)
thyroid gland 2.89% (17 of 588)
tongue 3.62% (5 of 138)
trachea 0.51% (3 of 590)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.34% (2 of 590)
vagina 0.0%
vas deferens 4.65% (18 of 387)
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 510)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 505)
placenta 16.67% (7 of 42)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 510)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)
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

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

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
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Lymphatic Malformation 2
Lymphedema OMIM:611944
Angioedema, Hereditary, 5
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619361
Acute Zonal Occult Outer Retinopathy
Abnormal retinal vascular morphology, Rod-cone dystrophy, Retinal pigment epithelial mottling, Ab... ORPHA:284454
Cockayne Syndrome
Ataxia, Inability to walk, Hepatomegaly, Retinal degeneration, Limb hypertonia, Dry hair, Retinal... ORPHA:191
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Edema OMIM:178400
Gordon Holmes Syndrome
Infertility, Ataxia, Cerebral atrophy, Hypogonadotropic hypogonadism, Oligomenorrhea, Cerebellar ... OMIM:212840
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Limb ataxia, Weakness of facial musculature, Increased variability in muscle fiber diameter, Babi... OMIM:258450
Waldenström Macroglobulinemia
Malabsorption, Ataxia, Hepatomegaly, Abnormal retinal vascular morphology, Splenomegaly, Multifoc... ORPHA:33226
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Glutaryl-Coa Dehydrogenase Deficiency
Ataxia, Subdural hemorrhage, Pallidal degeneration, Rigidity, Retinal hemorrhage, Chorea, Athetos... ORPHA:25
Cockayne Syndrome Type 3
Hepatomegaly, Retinal degeneration, Subdural hemorrhage, Brain atrophy, Dry hair, Retinal dystrop... ORPHA:90324
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Dystonia 31
Leg dystonia, Parkinsonism, Craniofacial dystonia, Writer's cramp, Difficulty walking, Dysphagia,... OMIM:619565
Lymphedema-Cerebral Arteriovenous Anomaly Syndrome
Lymphedema ORPHA:86914
Incontinentia Pigmenti
Telangiectasia of the skin, Alopecia, Spasticity, Abnormal toenail morphology, Broad nail, Irregu... ORPHA:464
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Limb ataxia, Alopecia, Head tremor, Truncal ataxia, Difficulty walking, Type I diabetes mellitus,... ORPHA:412057
Neuroectodermal Melanolysosomal Disease
Hypertonia, Ataxia, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Hypopigmentation of... ORPHA:33445
Huntington Disease-Like 1
Cerebral cortical atrophy, EEG abnormality, Poor fine motor coordination, Dysmetria, Clumsiness, ... ORPHA:157941
Nemaline Myopathy 2
High palate, Inability to walk, Cleft palate, Weakness of facial musculature, Increased variabili... OMIM:256030
Riboflavin Transporter Deficiency
Ataxia, Cerebral cortical atrophy, Abnormal autonomic nervous system physiology, Abnormality of m... ORPHA:97229
Polyhydramnios, Chronic Idiopathic
Polyhydramnios OMIM:263610
Oculopharyngodistal Myopathy 3
Sensorineural hearing impairment, Conductive hearing impairment, Ataxia, Increased endomysial con... OMIM:619473
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Autosomal Recessive Cutis Laxa Type 2, Classic Type
High palate, Failure to thrive, Thick hair, Sparse hair, Coarse hair, Cerebellar hypoplasia, Spas... ORPHA:357074
Cherubism
Optic neuropathy, Macular scar, Marcus Gunn pupil OMIM:118400
Chilblain Lupus 2
Edema OMIM:614415
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Impotence, Constipation, Orthostatic hypotension, Babinski sign, Aplasia/Hypoplasia of th... ORPHA:99027
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Gne Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... ORPHA:602
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
High palate, Absent brainstem auditory responses, Sensorineural hearing impairment, Ankle flexion... OMIM:617519
Macular Dystrophy, Dominant Cystoid
Cystoid macular edema, Edema OMIM:153880
Mohr-Tranebjaerg Syndrome
Inability to walk, Babinski sign, Optic atrophy, Tremor, Abnormality of somatosensory evoked pote... ORPHA:52368
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
High palate, Thick hair, Increased muscle glycogen content, Progressive cerebellar ataxia, Dysmet... ORPHA:502423
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Opisthotonus, Tip-toe gait, Rod-cone dystrophy, Pigmentary retinopathy, Gait d... ORPHA:216866
Pseudoxanthoma Elasticum
Angina pectoris, Intermittent claudication, Mitral stenosis, Retinal peau d'orange, Macular degen... OMIM:264800
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Vasculitis in the skin, Raynaud phenomenon, Macular edema, Retinal hemorrhage, Hemiparesis, Aprax... OMIM:192315
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... ORPHA:827
Lethal Congenital Contracture Syndrome 5
Decreased nerve conduction velocity, Flexion contracture, Small for gestational age, Retinal hemo... OMIM:615368
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Progressive cerebellar ataxia, Spinocerebellar atrophy, Impaired vibration sensation in the lower... ORPHA:95433
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Oromandibular dystonia, Multiple joint contractures, Inability to walk, Blepharospas... OMIM:128100
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion OMIM:618773
Ravine Syndrome
Failure to thrive, Ataxia, Decreased body weight, Atrophy/Degeneration affecting the brainstem, S... ORPHA:99852
Autosomal Recessive Progressive External Ophthalmoplegia
Ataxia, Parkinsonism with favorable response to dopaminergic medication, Scapular winging, Optic ... ORPHA:254886
Lymphatic Malformation 3
Lymphedema OMIM:613480
Charcot-Marie-Tooth Disease Type 1F
Inability to walk, Flexion contracture of finger, Limb ataxia, Proximal muscle weakness in lower ... ORPHA:101085
Incontinentia Pigmenti
Sparse hair, Alopecia, Coarse hair, Hypoplasia of the fovea, Optic atrophy, Breast aplasia, Spast... OMIM:308300
Myopathy, Mitochondrial, And Ataxia
High palate, Thick hair, Ataxia, Inability to walk, Limb ataxia, Dysmetria, Hyperthyroidism, Dysd... OMIM:617675
Christianson Syndrome
Motor stereotypy, Neuronal loss in central nervous system, Cerebral cortical atrophy, Gastroesoph... ORPHA:85278
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Parkinsonism with favorable response to dopaminergic medication, Hypergonadot... OMIM:157640
Adult Krabbe Disease
Hemiplegia, Ataxia, Babinski sign, Erectile dysfunction, Progressive spastic paraparesis, Spastic... ORPHA:206448
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... OMIM:617158
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Subdural hemorrhage, Hepatomegaly, Hemothorax, Diarrhea, Myocarditis, Epi... ORPHA:99827
Glaucoma 3, Primary Congenital, E
Edema OMIM:617272
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Increased variability in muscle fiber diameter, Optic atrophy, Gait disturbance, Spastici... OMIM:125250
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Malabsorption, Ataxia, Constipation, Cachexia, Ragged-red muscle fibers, Weight lo... OMIM:613662
Oculopharyngodistal Myopathy
High palate, Impaired oropharyngeal swallow response, Weakness of facial musculature, Difficulty ... ORPHA:98897
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
High palate, Gastroesophageal reflux, Flexion contracture, Tachycardia, Retinal hemorrhage, Bilat... OMIM:614653
Mohr-Tranebjaerg Syndrome
Postlingual sensorineural hearing impairment, Tremor, Spasticity, Dysphagia, Dystonia, Progressiv... OMIM:304700
Perrault Syndrome 1
High palate, Sensorineural hearing impairment, Ataxia, Intention tremor, Spastic diplegia, Primar... OMIM:233400
White Sponge Nevus 2
Edema OMIM:615785
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Abnormal flash visual evoked potentials, Peripapillary atrophy, Macular degene... OMIM:618195
Juvenile Huntington Disease
Broad-based gait, Ataxia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Bradykinesia,... ORPHA:248111
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Positive Romberg sign, Prelingual sensorineural hearing impa... OMIM:616515
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Melena, Hip contracture, Vitreous hemorrhage, Bloody diarrhea, Hematemesis, Cerebral hemorrhage, ... ORPHA:464321
Pseudoxanthoma Elasticum
High palate, Angina pectoris, Telangiectasia of the skin, Hemiplegia/hemiparesis, Bruising suscep... ORPHA:758
Trichinellosis
Hemiplegia, Babinski sign, Retinal hemorrhage, Hemiparesis, Tinnitus, Nausea, Abnormality of the ... ORPHA:863
Macular Degeneration, Age-Related, 1
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... OMIM:603075
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia, Cerebellar dysplasia OMIM:615041
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypergonadotropic hypogonadism, Small intestinal dysmotility, Diarrhea, Vomiting, Weight loss, Ga... ORPHA:298
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Ataxia, Inability to walk, Lower-limb joint contracture, Upper-lim... ORPHA:300605
Rift Valley Fever
Paraparesis, Melena, Hematemesis, Abnormal bleeding, Macular edema, Decerebrate rigidity, Retinal... ORPHA:319251
Hereditary Myopathy With Early Respiratory Failure
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... ORPHA:178464
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Inability to walk, Increased endomysial connective tissue, EMG: myopathic abnormalities, Increase... ORPHA:266
Pseudoxanthoma Elasticum, Forme Fruste
High palate, Angina pectoris, High, narrow palate, Macular degeneration, Cerebral hemorrhage, Ret... OMIM:177850
Spinal Muscular Atrophy, Type Iv
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Hand tremor, Calf musc... OMIM:271150
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Cachexia, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Cerebellar... OMIM:618093
Childhood-Onset Nemaline Myopathy
High palate, Neuromuscular dysphagia, Slender build, Facial diplegia, Nemaline bodies, Bradykines... ORPHA:171439
Vici Syndrome
Sensorineural hearing impairment, Failure to thrive, Ocular albinism, Cleft palate, Hypopigmentat... OMIM:242840
Huntington Disease
Gait imbalance, Inability to walk, Babinski sign, Chorea, Difficulty walking, Abnormal libido, We... ORPHA:399
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... OMIM:305390
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Amenorrhea, Ataxia, Cerebral cortical atrophy, Optic atrophy, Difficulty walking, Cerebellar atro... OMIM:619425
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Ataxia, Retinal pigment epithelial mottling, Weakness of facial musculature, Increased variabilit... OMIM:607459
Oocyte Maturation Defect 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Huntington Disease-Like 2
Cerebral cortical atrophy, Caudate atrophy, Parkinsonism, Chorea, Gait disturbance, Involuntary m... ORPHA:98934
Alpha-B Crystallin-Related Late-Onset Myopathy
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... ORPHA:399058
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Ataxia, Retinal degeneration, Brain atrophy, Cerebral atrophy, ... OMIM:619260
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Ataxia, Tremor, Difficulty walking, Lower limb spasticity, Slurred speech, Impaired t... ORPHA:206443
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... OMIM:618655
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Gait disturbance, Congenital muscular dystrophy, Decreased testicular size, Hypogonadism, Abnorma... ORPHA:1875
Carcinoma Of Esophagus
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Weight loss, Dysphagia, Obesity,... ORPHA:70482
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Sensorineural hearing impairment, Failure to thrive, Loss of ambulation, Female infertility, Skel... OMIM:619518
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, Distal sensory impairment, Distal amyotrophy, Abnormal... OMIM:601382
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Oocyte Maturation Defect 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Usher Syndrome Type 1
Sensorineural hearing impairment, Ataxia, Cerebral cortical atrophy, Vestibular hypofunction, Apl... ORPHA:231169
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
High palate, Failure to thrive, Muscle fiber necrosis, Gastroesophageal reflux, Cleft palate, EMG... OMIM:614399
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... ORPHA:261529
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Amyotrophic lateral sclerosis, Proximal muscle weakness in lower limbs, Ankle clonus, Increased v... OMIM:613954
Classic Galactosemia
Gait imbalance, Ataxia, Hepatomegaly, Primary amenorrhea, Diarrhea, Vomiting, Secondary amenorrhe... ORPHA:79239
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Sensorineural hearing impairment, Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... OMIM:133780
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate OMIM:264420
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Abnormal left ventricular function, Inability to walk, Macroglossia, Flexion contracture, Muscula... OMIM:613155
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Proximal Myopathy With Extrapyramidal Signs
Ataxia, Progressive extrapyramidal muscular rigidity, Resting tremor, Increased variability in mu... ORPHA:401768
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Ataxia, Retinal telangiectasia, Esophageal varix, Spasticity, Portal hypertension, Gastrointestin... OMIM:617341
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Ataxia, Cochlear degeneration, Diabetes mellitus, Slowed slurred speech, Progressive sensorineura... OMIM:172500
Tay-Sachs Disease
Inability to walk, Laryngeal dystonia, Optic atrophy, Tremor, Skeletal muscle atrophy, Precocious... ORPHA:845
Lymphatic Malformation 9
Predominantly lower limb lymphedema OMIM:619319
Lymphatic Malformation 10
Lymphedema OMIM:619369
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration, Spastic tetraplegia OMIM:258700
Gm1 Gangliosidosis
Ataxia, Abnormality of extrapyramidal motor function, Aplasia/Hypoplasia of the abdominal wall mu... ORPHA:354
Rhombencephalosynapsis
Anal atresia, Ataxia, Tracheoesophageal fistula, Low-set, posteriorly rotated ears, Agenesis of c... ORPHA:59315
Erythrokeratodermia Variabilis
Protruding ear, Generalized hirsutism, Hypermelanotic macule, Irregular hyperpigmentation, Alopec... ORPHA:317
Granulomatosis With Polyangiitis
Retinal hemorrhage, Chronic otitis media, Localized pulmonary hemorrhage, Weight loss, Diffuse al... OMIM:608710
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
High palate, Motor stereotypy, Decreased response to growth hormone stimulation test, Micropenis,... ORPHA:457240
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Supraventricular arrhythmia, Retinal hemorrhage, Retinal arteriolar tortuosity, Raynaud phenomenon OMIM:611773
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Impaired vibratory sensation, Rimmed vacuoles, Increased variability in muscle fiber diameter, Lo... OMIM:616924
Neuropathy, Congenital Hypomyelinating, 3
High palate, Low-set ears, Facial diplegia, Gastroesophageal reflux, Flexion contracture, Cachexi... OMIM:618186
Odontoma-Dysphagia Syndrome
Dysphagia, Abnormal esophagus morphology OMIM:164330
Cochleosaccular Degeneration-Cataract Syndrome
Ataxia, Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Cockayne Syndrome A
Abnormal pinna morphology, Ataxia, Hepatomegaly, Sparse hair, Retinal pigment epithelial mottling... OMIM:216400
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema OMIM:152900
Coach Syndrome 1
Ataxia, Hepatomegaly, Aplasia/Hypoplasia of the cerebellar vermis, Splenomegaly, Oculomotor aprax... OMIM:216360
Retinal Arteries, Tortuosity Of
Retinal hemorrhage, Retinal arteriolar tortuosity OMIM:180000
Charcot-Marie-Tooth Disease, Type 4C
Axonal degeneration, Facial palsy, Decreased motor nerve conduction velocity, Upper limb muscle w... OMIM:601596
Intestinal Dysmotility Syndrome
High palate, Failure to thrive, Projectile vomiting, Diarrhea, Decreased intestinal transit time,... OMIM:620045
Noonan Syndrome 7
Large earlobe, Impaired oropharyngeal swallow response, Pulmonic stenosis, Abnormal esophagus mor... OMIM:613706
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Temporal optic dis... ORPHA:1215
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Retinal thinning, Retinal dystrophy, Cerebellar vermis hypoplasia, Cere... OMIM:615960
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Increased endomysial connective tissue, Scapular winging, Increased variability in muscle fiber d... ORPHA:437572
Galactosemia
Gait imbalance, Failure to thrive, Ataxia, Action tremor, Hepatomegaly, Cryptorchidism, Abnormal ... ORPHA:352
Bardet-Biedl Syndrome 1
High palate, Gait imbalance, Ataxia, Retinal degeneration, Attenuation of retinal blood vessels, ... OMIM:209900
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Ataxia, White eyebrow, Spasticity, White forelock, Absent brainstem auditory responses, Hypoplasi... OMIM:609136
Septo-Optic Dysplasia Spectrum
Sensorineural hearing impairment, Hemiplegia/hemiparesis, Hypoplasia of penis, Cleft palate, Cons... ORPHA:3157
Ataxia-Telangiectasia
Failure to thrive, Ataxia, Premature graying of hair, Telangiectasia of the skin, Mucosal telangi... ORPHA:100
Adult-Onset Nemaline Myopathy
High palate, Neuromuscular dysphagia, Nemaline bodies, Bradykinesia, Flexion contracture, EMG: my... ORPHA:171442
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal cerebellar cortex morphology, Impaired vibratory sensation, Myoclonus, Increased variabi... ORPHA:70595
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Sensorineural hearing impairment, Esophageal neoplasm, Failure to thrive, Gastroesophageal reflux... ORPHA:1018
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration, Ataxia OMIM:271250
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... OMIM:618848
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Elongated superior cerebellar peduncle, Dilated fourth ventricle, Inferior cerebellar vermis hypo... ORPHA:370022
Benign Schwannoma
Allodynia, Abnormality of the adrenal glands, Vestibular schwannoma, Abnormal esophagus morpholog... ORPHA:252164
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Protruding ear, Hirsutism, Thick eyebrow, Hypoplasia of the uterus, C... ORPHA:247768
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Loss of ambulation, Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle... OMIM:254110
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Ataxia, Failure to thrive, Hypermelanotic macule, Cryptorchi... ORPHA:90321
Pparg-Related Familial Partial Lipodystrophy
Generalized hirsutism, Hepatomegaly, Dysmenorrhea, Skeletal muscle hypertrophy, Splenomegaly, Oli... ORPHA:79083
Non-Functioning Paraganglioma
Conductive hearing impairment, Pulsatile tinnitus, Hypertension associated with pheochromocytoma,... ORPHA:94080
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in lower limbs, Scapular winging, Increased variability in muscle fiber ... OMIM:301075
Sporadic Infantile Bilateral Striatal Necrosis
Hemiplegia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Resting tremor, Babinski ... ORPHA:225147
Renpenning Syndrome
Sensorineural hearing impairment, Anal atresia, Abnormal hairshaft morphology, High, narrow palat... ORPHA:3242
Moynahan Syndrome
Sensorineural hearing impairment, Sparse hair, Alopecia, Cachexia, Hypogonadism ORPHA:2574
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Gastroesophageal reflux, Cerebral atrophy, Patent ductus arteriosus, Cryptorch... OMIM:614857
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Failure to thrive, Hepatomegaly, Dysmenorrhea, Splenomegaly, Oligomenorrhea, Irregular menstruati... ORPHA:370
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Failure to thrive, Ataxia, Inability to walk, Gastroesophageal reflux, Hypopigmentation of hair, ... ORPHA:70472
Spinocerebellar Ataxia Type 13
Torticollis, Clumsiness, Bradykinesia, Limb ataxia, Myoclonus, Optic atrophy, Titubation, Difficu... ORPHA:98768
Retinopathy Of Prematurity
Vitreous hemorrhage, Abnormal retinal vascular morphology, Small for gestational age, Abnormal ma... ORPHA:90050
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Ataxia, Abnormal motor evoked potentials, Lower limb spasticity... ORPHA:320401
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial effusion OMIM:617300
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
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Chudley-Mccullough Syndrome
Severe sensorineural hearing impairment, Cerebellar dysplasia, Cerebellar hypoplasia OMIM:604213
Deafness-Infertility Syndrome
Sensorineural hearing impairment, Azoospermia, Male infertility ORPHA:94064
Refractory Anemia With Excess Blasts
Abnormal bleeding, Palpitations, Retinal hemorrhage ORPHA:86839
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Spastic diplegia, Myoclonus, Increased variability in muscle fiber diameter, Babinski sig... OMIM:619065
Infantile Krabbe Disease
Vomiting, Optic atrophy, Spasticity, Lower limb spasticity, Abnormal heart rate variability, Decr... ORPHA:206436
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Cerebrotendinous Xanthomatosis
Cholelithiasis, Paraparesis, Ataxia, Hypermyelinated retinal nerve fibers, Axonal degeneration, A... ORPHA:909
Generalized Arterial Calcification Of Infancy
Calcification of the auricular cartilage, Vomiting, Transient ischemic attack, Pancreatic calcifi... ORPHA:51608
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Loss of ambulation, Skeletal muscle hypertrophy, Proximal muscle ... OMIM:619566
Congenital Disorder Of Glycosylation, Type Iil
Failure to thrive, Hepatomegaly, Cerebral atrophy, Splenomegaly, Abnormal bleeding, Inflammation ... OMIM:614576
Flynn-Aird Syndrome
Ataxia, Cerebral cortical atrophy, EEG abnormality, Abnormality of the thyroid gland, Rod-cone dy... ORPHA:2047
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemiplegia, Cerebral hemorrhage, Corneal neovascularization, Babinski sign, Facial paralysis, Ret... OMIM:175780
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Premature graying of hair, Abnormality of retinal pigmentation, Cons... ORPHA:897
Retinal Venous Beading
Vitreous hemorrhage, Nephritis, Retinal neovascularization, Retinal infarction, Abnormal distribu... OMIM:180080
Asherman Syndrome
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... ORPHA:137686
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Hepatomegaly, Dysmenorrhea, Splenomegaly, Irregular menstruation, Oligomenorrh... ORPHA:264580
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... OMIM:601954
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
High palate, Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal musc... OMIM:618654
Idiopathic Aplastic Anemia
Ecchymosis, Gingival bleeding, Epistaxis, Retinal hemorrhage ORPHA:88
Spinocerebellar Ataxia Type 18
Dysmetria, Head tremor, Titubation, Somatic sensory dysfunction, Gait ataxia, Cerebellar atrophy,... ORPHA:98771
Coenzyme Q10 Deficiency, Primary, 1
Sensorineural hearing impairment, Ataxia, Loss of ambulation, Decreased level of coenzyme Q10 in ... OMIM:607426
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Waddling... OMIM:612937
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Broad-based gait, Increased endomysial connective tissue, Tip-toe gait, Macroglossia, Right ventr... ORPHA:353
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Fanconi Anemia, Complementation Group B
Duodenal atresia, Micropenis, Hypergonadotropic hypogonadism, Tracheoesophageal fistula, Overfold... OMIM:300514
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Isolated Succinate-Coq Reductase Deficiency
Loss of ambulation, Ataxia, Abnormal left ventricular function, Spastic paraparesis, Left ventric... ORPHA:3208
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... ORPHA:1646
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastroesophageal reflux, Hepatomegaly, Abnormal esophagus physiology, Dyspha... ORPHA:2198
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Distal sensory impairment, Distal amyotrophy, Gait disturban... OMIM:601455
Familial Partial Lipodystrophy, Dunnigan Type
Generalized hirsutism, Hepatomegaly, Dysmenorrhea, Hypertrophic cardiomyopathy, Skeletal muscle h... ORPHA:2348
Tibial Muscular Dystrophy
Clumsiness, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps mus... ORPHA:609
Abcd Syndrome
Large for gestational age, Albinism, White eyebrow, White eyelashes, Abnormal auditory evoked pot... OMIM:600501
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Abnormality of the middle ear ossicles, Stapes ankylosis, Congenit... ORPHA:90646
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Spastic Tetraplegia And Axial Hypotonia, Progressive
Hypertonia, Ataxia, Exaggerated startle response, Ankle clonus, Babinski sign, Abnormal pyramidal... OMIM:618598
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility OMIM:261550
Perrault Syndrome 4
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus, Cleft palate, Oligomenorrhe... OMIM:615300
Tietz Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Spinocerebellar Ataxia Type 32
Testicular atrophy, Progressive cerebellar ataxia, Male infertility, Cerebellar atrophy, Azoospermia ORPHA:276183
Optic Atrophy 8
Sensorineural hearing impairment, Prolonged somatosensory evoked potentials, Mitral regurgitation... OMIM:616648
Mantle Cell Lymphoma
Weight loss, Abnormality of the gastrointestinal tract, Splenomegaly ORPHA:52416
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... ORPHA:98797
Arthrogryposis, Distal, Type 2A
High palate, Failure to thrive, Hip contracture, Flexion contracture of finger, Cryptorchidism, J... OMIM:193700
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Attrv30M Amyloidosis
Impotence, Constipation, Abnormal autonomic nervous system physiology, Diarrhea, Arrhythmia, Vitr... ORPHA:85447
Diencephalic Syndrome
Decreased body weight, Cachexia, Abnormality of the hypothalamus-pituitary axis, Long penis, Opti... ORPHA:1672
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... ORPHA:98798
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Internally nucleated skeletal muscle fibers, Axonal degenera... OMIM:618138
Laryngeal Neuroendocrine Tumor
Increased serum serotonin, Adrenocorticotropic hormone excess, Inappropriate antidiuretic hormone... ORPHA:100083
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Lymphedema, Facial edema, Edema OMIM:618154
Reticular Dysgenesis
Failure to thrive, Malabsorption, Diarrhea, Chronic otitis media, Weight loss, Aplasia/Hypoplasia... ORPHA:33355
Apert Syndrome
Ectopic anus, Sensorineural hearing impairment, Conductive hearing impairment, Narrow palate, Ova... ORPHA:87
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, High palate, Female infertility, Hypoplasia of the uterus, Cupped ear, Irregular mens... OMIM:110100
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Pelizaeus-Merzbacher Disease
Ataxia, Cerebral cortical atrophy, Cachexia, Failure to thrive in infancy, Bowel incontinence, Ga... ORPHA:702
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Cholangiocarcinoma, Hepatomegaly, Erectile dysfunction, Weight loss, Cardiome... ORPHA:465508
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility OMIM:619689
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... OMIM:300696
Hirschsprung Disease
Sensorineural hearing impairment, Constipation, Diarrhea, Failure to thrive in infancy, Intestina... ORPHA:388
Leptospirosis
Optic neuritis, Hepatomegaly, Papilledema, Pulmonary hemorrhage, Diarrhea, Arrhythmia, Retinal he... ORPHA:509
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Brain atrophy, Cranial nerve compression, EMG: myopathic abnormali... ORPHA:52430
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
High palate, Axial dystonia, Decreased sensory nerve conduction velocity, Flexion contracture, De... OMIM:619026
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Loss of ambulation, Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in m... ORPHA:34516
Rigid Spine Muscular Dystrophy 1
High palate, Failure to thrive, Loss of ambulation, Decreased body weight, Increased endomysial c... OMIM:602771
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Impotence, Decreased fertility in males, Central adrenal insufficien... ORPHA:91347
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Usher Syndrome Type 3
Sensorineural hearing impairment, Ataxia, Vestibular hypofunction, Iris hypopigmentation, Abnorma... ORPHA:231183
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... ORPHA:206549
47,Xyy Syndrome
Increased circulating gonadotropin level, Increased serum testosterone level, Congenital stationa... ORPHA:8
Autosomal Spastic Paraplegia Type 58
Torticollis, Erratic myoclonus, Cerebral atrophy, Dysmetria, Tip-toe gait, Intention tremor, Babi... ORPHA:397946
Peripheral Primitive Neuroectodermal Tumor
Torticollis, Neoplasm of the pancreas, Precocious puberty, Ovarian neoplasm, Uterine neoplasm, Me... ORPHA:370348
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, Increased variability i... ORPHA:86812
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Cockayne Syndrome B
Abnormal pinna morphology, Ataxia, Hepatomegaly, Sparse hair, Dry hair, Optic atrophy, Tremor, De... OMIM:133540
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia, Diarrhea, Cerebellar hypoplasia, Vomit... ORPHA:3240
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... ORPHA:90793
Piebald Trait-Neurologic Defects Syndrome
Sensorineural hearing impairment, Abnormal eyebrow morphology, Ataxia, Irregular hyperpigmentatio... ORPHA:2885
Pierson Syndrome
Remnants of the hyaloid vascular system, Retinal detachment, Retinal hemorrhage, Posterior lentic... OMIM:609049
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weak... OMIM:300580
Pulmonary Blastoma
Weight loss ORPHA:64741
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Retinal detachment, Hypoplasia of the pons, Cerebellar hypoplasia, Cerebe... OMIM:615181
Premature Ovarian Failure 6
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... OMIM:612310
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Loss of ambulation, Increased endomysial connective tissue, Proximal muscle weakness in lower lim... OMIM:615424
Primary Ciliary Dyskinesia
Conductive hearing impairment, Female infertility, Rod-cone dystrophy, Intestinal malrotation, Ch... ORPHA:244
Xq21 Microdeletion Syndrome
Ataxia, Optic atrophy, Hypertension, Choroideremia, Bilateral sensorineural hearing impairment, P... ORPHA:1435
Idiopathic Achalasia
Dysphagia, Weight loss, Gastroesophageal reflux ORPHA:930
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Gait dis... ORPHA:1878
Dyskeratosis Congenita
Telangiectasia of the skin, Hepatomegaly, Sparse hair, Alopecia, Tracheoesophageal fistula, Anore... ORPHA:1775
Ullrich Congenital Muscular Dystrophy 1
High palate, Failure to thrive, Protruding ear, Torticollis, Slender build, Muscle fiber necrosis... OMIM:254090
Hidrotic Ectodermal Dysplasia
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... ORPHA:189
Trisomy 18
Anal atresia, Hypertonia, Narrow palate, Abnormality of retinal pigmentation, Congenital diaphrag... ORPHA:3380
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Weight loss, Cleft palate ORPHA:141152
Myopathy With Extrapyramidal Signs
Ataxia, Clumsiness, Hepatomegaly, Splenomegaly, Calf muscle hypertrophy, Abnormality of extrapyra... OMIM:615673
Neurofibromatosis Type 2
Sensorineural hearing impairment, Abnormal cerebellum morphology, Remnants of the hyaloid vascula... ORPHA:637
Non-Functioning Pituitary Adenoma
Impotence, Decreased fertility in males, Central adrenal insufficiency, Vomiting, Erectile dysfun... ORPHA:91349
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Sporadic Pheochromocytoma/Secreting Paraganglioma
Conductive hearing impairment, Pulsatile tinnitus, Hypertension associated with pheochromocytoma,... ORPHA:276621
Muscular Dystrophy, Congenital, Merosin-Positive
Flexion contracture, Increased variability in muscle fiber diameter, Congenital muscular dystroph... OMIM:609456
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... OMIM:619733
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal antihelix morphology, Abnormal pinna morphology, Constipation, Decreased circulating and... ORPHA:95699
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Intellectual Developmental Disorder, Autosomal Dominant 48
Sensorineural hearing impairment, Motor stereotypy, Hypospadias, Dilated fourth ventricle, Cerebe... OMIM:617751
Distal Myopathy, Tateyama Type
Intrinsic hand muscle atrophy, Clumsiness, EMG: myopathic abnormalities, Palpitations, Increased ... ORPHA:488650
Rett Syndrome
Cerebral cortical atrophy, Gastroesophageal reflux, Abnormal T-wave, EEG abnormality, Constipatio... OMIM:312750
Congenital Multicore Myopathy With External Ophthalmoplegia
High palate, Facial diplegia, Nemaline bodies, Hypertrophied muscle fibers, Flexion contracture, ... ORPHA:98905
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism, Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Hereditary Pheochromocytoma-Paraganglioma
Tremor, Adrenal pheochromocytoma, Weight loss, Pulsatile tinnitus, Cerebral hemorrhage, Palpitati... ORPHA:29072
Myopathy, Myofibrillar, 7
Multiple joint contractures, Nemaline bodies, Flexion contracture, Z-band streaming, Increased va... OMIM:617114
Hidrotic Ectodermal Dysplasia, Halal Type
Nail dysplasia, Sparse scalp hair, Protruding ear, Multiple cafe-au-lait spots, Absent eyebrow, S... ORPHA:1809
X-Linked Intellectual Disability, Cabezas Type
High palate, Broad-based gait, EEG abnormality, Hypoplasia of penis, Cachexia, Camptodactyly of f... ORPHA:85293
Plaa-Associated Neurodevelopmental Disorder
High palate, Sensorineural hearing impairment, Failure to thrive, Hirsutism, Exaggerated startle ... ORPHA:521426
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Yellow Nail Syndrome
Predominantly lower limb lymphedema, Lymphedema OMIM:153300
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Diarrhea, Vomiting, Hypogonadism, Gastrointestinal hemorrhage, Weight loss, Abnorma... ORPHA:85450
Systemic Sclerosis
Alopecia, Myocarditis, Pericarditis, Abnormal large intestine morphology, Irregular hyperpigmenta... ORPHA:90291
Myopathic Ehlers-Danlos Syndrome
Failure to thrive, Multiple joint contractures, High, narrow palate, Tip-toe gait, Flexion contra... ORPHA:536516
Retinoblastoma
Abnormality of retinal pigmentation, Heterochromia iridis, Retinoblastoma, Cleft palate, Vitreous... ORPHA:790
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Mitral stenosis, Failure to thrive, Cerebral atrophy, Weakness of facial musculature, Increased v... OMIM:619461
Premature Ovarian Failure 13
Amenorrhea, Female infertility, Hypoplasia of the uterus, Oligomenorrhea, Elevated circulating fo... OMIM:617442
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
High palate, Multiple joint contractures, Gastroesophageal reflux, EMG: myopathic abnormalities, ... ORPHA:486815
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Generalized hirsutism, Narrow palate, High, narrow palate, Right ventricular hypertrophy, Myoclon... OMIM:612949
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal muscle glycogen content, Abnormal neuron branching, Failure to thrive, Hepatomegaly, Fle... ORPHA:367
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Sensorineural hearing impairment, Slender build, Malabsorption, Constipation, Allodynia, Hypoesth... OMIM:603041
Mogs-Cdg
High palate, Absent brainstem auditory responses, Sensorineural hearing impairment, Hirsutism, Fa... ORPHA:79330
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Sensorineural hearing impairment, Motor stereotypy, Congenital sensorineural hearing impairment, ... ORPHA:500159
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Nail dysplasia, Failure to thrive, Decreased body weight, Gastroesophageal reflux, Irregular hype... ORPHA:89842
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Multiple cafe-au-lait sp... ORPHA:457059
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Flexion contracture, Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fibe... OMIM:300718
Sandifer Syndrome
Torticollis, Gastroesophageal reflux, Hematemesis, Hiatus hernia, Episodic vomiting, Esophagitis,... ORPHA:71272
Cronkhite-Canada Syndrome
Hepatomegaly, Stomach cancer, Alopecia, Diarrhea, Furrowed tongue, Intestinal polyposis, Generali... ORPHA:2930
Glossopharyngeal Neuralgia
Odynophagia, Cranial nerve compression, Vocal cord paralysis, Syncope, Ear pain, Abnormal glossop... ORPHA:221098
Oculopharyngodistal Myopathy 4
High palate, Weakness of facial musculature, EMG: myopathic abnormalities, Increased variability ... OMIM:619790
Retinitis Pigmentosa 89
Rod-cone dystrophy, Hepatosplenomegaly, Retinal thinning, Esophageal varix, Hyperautofluorescent ... OMIM:618955
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Sandhoff Disease
Ataxia, Impotence, Hepatomegaly, Exaggerated startle response, Cherry red spot of the macula, Mac... OMIM:268800
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Failure to thrive, Eosinophilic microabscess formation in the esophagus, Gastroesophageal reflux,... ORPHA:411696
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Giant Cell Arteritis
Conductive hearing impairment, Ataxia, Alopecia, Sudden cardiac death, Arrhythmia, Vasculitis, Pe... ORPHA:397
Mcdonough Syndrome
Protruding ear, Cachexia, Aplasia/Hypoplasia of the abdominal wall musculature, Low-set, posterio... ORPHA:2471
Prolactinoma
Impotence, Dyspareunia, Decreased fertility in males, Central adrenal insufficiency, Vomiting, Er... ORPHA:2965
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Loss of ambulation, EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in mu... OMIM:253601
Oculopharyngodistal Myopathy 1
High palate, Sensorineural hearing impairment, Ataxia, Brain atrophy, Hypertrophic cardiomyopathy... OMIM:164310
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Lower limb muscle weakness, R... OMIM:137440
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormality of visual evoked potentials, Hypoplasia of the pons OMIM:617523
Lynch Syndrome
Neoplasm of the rectum, Neoplasm of the pancreas, Malabsorption, Pituitary adenoma, Ovarian neopl... ORPHA:144
Norrie Disease
Abnormal helix morphology, Aplasia/Hypoplasia of the cerebellum, Optic atrophy, Erectile dysfunct... ORPHA:649
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance... OMIM:619042
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Facial hypotonia, Hip contracture, Hypertonia, Inability to walk, Constipation, Cerebral atrophy,... OMIM:616801
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Cachexia, Arrhythmia, Gait disturbance, Skeletal muscle atrophy, Myopathy, C... ORPHA:157973
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Generalized hirsutism, Ovarian neoplasm, Macroglossia, Hypopigmentat... ORPHA:2221
Recessive Dystrophic Epidermolysis Bullosa Inversa
Stenosis of the external auditory canal, Anonychia, Urethral stricture, Vaginal stricture, Esopha... ORPHA:79409
Complete Androgen Insensitivity Syndrome
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Sparse a... ORPHA:99429
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Sensorineural hearing impairment, Broad-based gait, Cholelithiasis, Hypertonia, Limb ataxia, Sple... ORPHA:2072
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Diarrhea, Vomiting, Gait ataxia, Weight loss OMIM:612075
Myopathy, Congenital, With Fiber-Type Disproportion
High palate, Failure to thrive, Limb joint contracture, Type 1 fibers relatively smaller than typ... OMIM:255310
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Distal Monosomy 10Q
High palate, Facial diplegia, Ataxia, Cleft palate, Morphological abnormality of the vestibule of... ORPHA:96148
Familial Colorectal Cancer Type X
Neoplasm of the rectum, Neoplasm of the colon, Malabsorption, Neoplasm of the pancreas, Pituitary... ORPHA:440437
Myofibrillar Myopathy 11
Z-band streaming, Calf muscle hypertrophy, EMG: myopathic abnormalities, Increased variability in... OMIM:619178
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Failure to thrive, Adrenocorticotropic hormone deficiency, Pituitary adenoma,... ORPHA:199299
Adams-Oliver Syndrome