Gene: Camk4 MGI:88258

Gene Summary

Name:

calcium/calmodulin-dependent protein kinase IV

Synonyms:

CaMKIV/Gr, D18Bwg0362e, CaMKIV, Ca2+/calmodulin-dependent protein kinase type IV/Gr, A430110E23Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal tooth morphology	Camk4^{em1(IMPC)Ccpcz}	HOM	Early adult	2.31×10^-18
enlarged heart	Camk4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal testis morphology	Camk4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged testis	Camk4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged thymus	Camk4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased spleen weight	Camk4^{em1(IMPC)Ccpcz}	HOM	Early adult	1.05×10^-05
increased fasting circulating glucose level	Camk4^{em1(IMPC)Ccpcz}	HOM	Early adult	5.29×10^-05
abnormal thymus morphology	Camk4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal heart morphology	Camk4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
small spleen	Camk4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal spleen morphology	Camk4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00

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Human diseases caused by Camk4 mutations

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

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

Human diseases associated with Camk4 (0 diseases)
Human diseases predicted to be associated with Camk4 (825 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Camk4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Partial Chromosome Y Deletion	Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi...	ORPHA:1646
Autosomal Recessive Spastic Paraplegia Type 46	Abnormal sperm morphology, Impaired vibration sensation at ankles, Babinski sign, Infertility, Ce...	ORPHA:320391
Spermatogenic Failure 56	Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ...	OMIM:619515
Spermatogenic Failure 54	Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled...	OMIM:619379
Spermatogenic Failure, X-Linked, 3	Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ...	OMIM:301059
Spermatogenic Failure 40	Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse...	OMIM:618664
Spermatogenic Failure 39	Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility...	OMIM:618643
Spermatogenic Failure 51	Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla...	OMIM:619177
Familial Alzheimer-Like Prion Disease	Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Depre...	ORPHA:280397
Spermatogenic Failure 35	Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella	OMIM:618341
Spermatogenic Failure 33	Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella	OMIM:618152
Spermatogenic Failure 34	Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella	OMIM:618153
Spermatogenic Failure 18	Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella	OMIM:617576
Spermatogenic Failure 20	Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella	OMIM:617593
Spermatogenic Failure 19	Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella	OMIM:617592
Spermatogenic Failure 58	Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Male infertility, Reduced progressiv...	OMIM:619585
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Infertility	OMIM:608653
Spermatogenic Failure 47	Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella	OMIM:619102
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome	Ataxia, Hypogonadotropic hypogonadism	ORPHA:1180
Spermatogenic Failure 48	Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia	OMIM:619108
Spermatogenic Failure 11	Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility	OMIM:615081
Leukoencephalopathy, Progressive, With Ovarian Failure	Dystonia, Cerebellar atrophy, Tremor, Ataxia, Premature ovarian insufficiency, Spasticity, Apraxia	OMIM:615889
Male Infertility Due To Acephalic Spermatozoa	Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,...	ORPHA:529970
Spermatogenic Failure 41	Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella	OMIM:618670
Spermatogenic Failure 10	Abnormal sperm morphology, Infertility	OMIM:614822
Spermatogenic Failure 46	Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S...	OMIM:619095
Severe Primary Trimethylaminuria	Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression	ORPHA:468726
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in...	OMIM:618751
Isochromosomy Yp	Azoospermia, Ambiguous genitalia, Male infertility, Primary gonadal insufficiency, Decreased test...	ORPHA:98797
Spermatogenic Failure 49	Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe...	OMIM:619144
Spermatogenic Failure 45	Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe...	OMIM:619094
Spermatogenic Failure 1	Oligospermia, Male infertility, Cryptozoospermia	OMIM:258150
Spermatogenic Failure 7	Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility	OMIM:612997
Buschke-Ollendorff Syndrome	Joint stiffness, Osteopoikilosis, Flexion contracture	OMIM:166700
Spinocerebellar Ataxia, Autosomal Recessive 16	Babinski sign, Cerebellar atrophy, Tremor, Hypogonadism, Truncal ataxia, Cerebellar hypoplasia, S...	OMIM:615768
Spermatogenic Failure 42	Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ...	OMIM:618745
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Male infertility, Decreased testicular size, Non-obstructive a...	OMIM:619528
Isochromosomy Yq	Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia...	ORPHA:98798
Familial Male-Limited Precocious Puberty	Oligospermia, Macroorchidism, Long penis, Male infertility, Attention deficit hyperactivity disor...	ORPHA:3000
Spermatogenic Failure 25	Azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia	OMIM:619145
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Spermatogenic Failure 8	Oligospermia, Azoospermia, Cryptozoospermia	OMIM:613957
Deafness-Infertility Syndrome	Abnormal spermatogenesis, Male infertility, Reduced sperm motility	OMIM:611102
Gordon Holmes Syndrome	Infertility, Oligomenorrhea, Cerebellar atrophy, Hypogonadotropic hypogonadism, Ataxia	OMIM:212840
Spermatogenic Failure 26	Infertility, Acephalic spermatozoa	OMIM:617961
Spastic Paraparesis And Deafness	Tremor, Spastic paraparesis, Hypogonadism	OMIM:312910
Spermatogenic Failure 21	Infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619646
Spermatogenic Failure 62	Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619672
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Ossification Of The Posterior Longitudinal Ligament Of Spine	Increased bone mineral density, Ectopic ossification	OMIM:602475
Spermatogenic Failure 44	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Spermatogenic Failure 24	Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep...	OMIM:617959
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Alpha-Methylacyl-Coa Racemase Deficiency	Tremor, Ataxia, Spasticity, Hypergonadotropic hypogonadism	OMIM:614307
Spermatogenic Failure 2	Oligospermia, Azoospermia	OMIM:108420
17Q11.2 Microduplication Syndrome	Macroorchidism, Thin vermilion border, Abnormal dental enamel morphology, Malar flattening, Ename...	ORPHA:139474
Spinocerebellar Ataxia 32	Testicular atrophy, Cerebellar atrophy, Infertility, Azoospermia, Ataxia	OMIM:613909
Spinocerebellar Ataxia Type 32	Testicular atrophy, Cerebellar atrophy, Azoospermia, Progressive cerebellar ataxia, Male infertility	ORPHA:276183
Flynn-Aird Syndrome	Increased bone density with cystic changes, Dementia, Osteoporosis, Increased bone mineral densit...	OMIM:136300
Isolated Follicle Stimulating Hormone Deficiency	Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon...	ORPHA:52901
Spermatogenic Failure 38	Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility...	OMIM:618433
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size	OMIM:229070
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev...	ORPHA:399808
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Mental Retardation, X-Linked 2	Macroorchidism, High palate	OMIM:300428
Persistent Mullerian Duct Syndrome, Types I And Ii	Abnormal circulating hormone concentration, Abnormality of male internal genitalia, Male infertil...	OMIM:261550
Spermatogenic Failure 30	Azoospermia, Cryptozoospermia	OMIM:618110
Ring Chromosome Y Syndrome	Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni...	ORPHA:261529
Morbid Obesity And Spermatogenic Failure	Oligospermia, Infertility, Type II diabetes mellitus, Azoospermia, Obesity	OMIM:615703
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Abnormality of the ovary, Gait disturbance, Decreased testicular size	ORPHA:1875
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Cardiomegaly	OMIM:300886
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Spermatogenic Failure 5	Functional abnormality of male internal genitalia, Male infertility	OMIM:243060
Osteomesopyknosis	Abnormal cortical bone morphology, Increased bone mineral density	ORPHA:2777
47,Xyy Syndrome	Hypospadias, Oligospermia, Macroorchidism, Increased serum testosterone level, Dysgenesis of the ...	ORPHA:8
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Mental Retardation, X-Linked 14	Macroorchidism	OMIM:300062
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Atkin-Flaitz Syndrome	Macroorchidism, Maxillary lateral incisor microdontia, Everted lower lip vermilion, Thick vermili...	ORPHA:1193
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Spermatogenic Failure 12	Infertility, Abnormal male germ cell morphology, Azoospermia	OMIM:615413
Polyendocrine-Polyneuropathy Syndrome	Central hypothyroidism, Dystonia, Hypogonadism, Ataxia, Cerebellar hypoplasia	OMIM:616113
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Osteomalacia, Sclerosing, With Cerebral Calcification	Generalized osteosclerosis, Osteomalacia, Increased bone mineral density	OMIM:259660
Young Syndrome	Obstructive azoospermia, Decreased fertility	ORPHA:3471
Lujan-Fryns Syndrome	Macroorchidism, Micrognathia, High palate, Short philtrum, Abnormality of the dentition, Atrial s...	ORPHA:776
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Cerebellar atrophy, Amenorrhea, Ataxia, Premature ovarian insufficiency, Difficulty walking	OMIM:619425
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology	ORPHA:3416
Isolated Osteopoikilosis	Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormal bone ossification, Tarsal sclerosi...	ORPHA:166119
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Fragile X Syndrome	Mandibular prognathia, Macroorchidism, postpubertal, Congenital macroorchidism, Mitral valve prol...	OMIM:300624
Van Buchem Disease	Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density	OMIM:239100
Endosteal Hyperostosis, Worth Type	Clavicular sclerosis, Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bo...	ORPHA:2790
Regional Odontodysplasia	Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth, Short dental root, A...	ORPHA:83450
Classic Galactosemia	Postural tremor, Secondary amenorrhea, Decreased fertility in females, Gait disturbance, Oligomen...	ORPHA:79239
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism, Mandibular prognathia, Tented upper lip vermilion, Open mouth, Dental crowding	OMIM:300143
Obsessive-Compulsive Disorder	Skin-picking, Anxiety, Depression	OMIM:164230
Spinocerebellar Ataxia 43	Rigidity, Tremor, Cerebellar vermis atrophy, Ataxia, Distal sensory impairment, Limb ataxia, Gait...	OMIM:617018
Megalencephaly	Macroorchidism, Atrial septal defect, Long penis	ORPHA:2477
Dacryocystitis-Osteopoikilosis Syndrome	Osteopoikilosis, Increased bone mineral density	ORPHA:1562
Osteochondrosis Of The Metatarsal Bone	Joint stiffness, Sclerosis of foot bone, Arthritis, Thickened cortex of bones	ORPHA:564003
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Craniosynostosis, Increased bone mineral density	ORPHA:178377
Leukoencephalopathy With Dystonia And Motor Neuropathy	Abnormal motor neuron morphology, Azoospermia, Torticollis, Intention tremor, Hypergonadotropic h...	OMIM:613724
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism	OMIM:300706
Episodic Ataxia, Type 1	Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia	OMIM:160120
Clark-Baraitser syndrome	Thick lower lip vermilion, Macroorchidism, Exaggerated median tongue furrow, Maxillary lateral in...	OMIM:300602
Spermatogenic Failure 32	Infertility, Azoospermia	OMIM:618115
Spermatogenic Failure 23	Infertility, Azoospermia	OMIM:617707
Spermatogenic Failure 22	Infertility, Azoospermia	OMIM:617706
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Thick lower lip vermilion, Macroorchidism	OMIM:300238
Xq27.3Q28 Duplication Syndrome	Failure to thrive, Truncal obesity, Hypogonadism, Premature ovarian insufficiency, Cryptorchidism...	ORPHA:261483
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia, Cerebellar hypoplasia	OMIM:213000
Sclerosteosis	Abnormal cortical bone morphology, Craniofacial hyperostosis, Increased bone mineral density	ORPHA:3152
Melorheostosis	Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone mineral density, J...	ORPHA:2485
Mueller-Weiss Syndrome	Sclerosis of foot bone, Limitation of movement at ankles, Knee osteoarthritis, Arthritis, Joint s...	ORPHA:566943
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato...	ORPHA:399805
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Macroorchidism, Smooth philtrum, Mitral valve prolapse, Mandibular prognathia, Cardiomegaly, Abno...	ORPHA:324410
Hypophosphatemic Rickets, Autosomal Recessive, 1	Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets	OMIM:241520
Atkin-Flaitz Syndrome	Thick lower lip vermilion, Macroorchidism, Exaggerated median tongue furrow, Maxillary lateral in...	OMIM:300431
Huntington Disease-Like 2	Dementia, Weight loss, Apathy, Irritability, Anxiety, Depression	OMIM:606438
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Male hypogonadism, Azoospermia	OMIM:241000
Fragile X Tremor/Ataxia Syndrome	Postural tremor, Parkinsonism, Cerebellar atrophy, Dysmetria, Bradykinesia, Intention tremor, Imp...	OMIM:300623
Functioning Gonadotropic Adenoma	Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me...	ORPHA:91348
4H Leukodystrophy	Dystonia, Cerebellar atrophy, Dysmetria, Hypogonadotropic hypogonadism, Abnormality of extrapyram...	ORPHA:289494
Gabriele-De Vries Syndrome	Tremor, Dystonia, Cryptorchidism, Waddling gait	OMIM:617557
Fragile X Syndrome	Sinusitis, Macroorchidism, Mitral valve prolapse, Mandibular prognathia	ORPHA:908
Autosomal Recessive Spastic Paraplegia Type 26	Dystonia, Gait disturbance, Impaired vibration sensation at ankles, Babinski sign, Pseudobulbar p...	ORPHA:101006
Ethanolaminosis	Cardiomegaly	OMIM:227150
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Macroorchidism, Dystonia, Babinski sign, Choreoathetosis, Obesity, Spastic gait, Shuffling gait, ...	OMIM:300055
Adrenal Hypoplasia, Congenital	Oligospermia, Decreased circulating aldosterone level, Adrenal insufficiency, Azoospermia, Failur...	OMIM:300200
Optic Atrophy 2	Tremor, Babinski sign, Dysdiadochokinesis	OMIM:311050
Galactosemia	Postural tremor, Secondary amenorrhea, Lethargy, Gait disturbance, Oligomenorrhea, Decreased seru...	ORPHA:352
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Reduced circulating prolactin concentration	OMIM:264120
Kennedy Disease	Testicular atrophy, Gait disturbance, Type II diabetes mellitus, Erectile dysfunction, Decreased ...	ORPHA:481
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Failure to thrive, Tremor, Hypogonadism, Ataxia, Decreased serum testosterone concentration, Decr...	OMIM:201100
Azoospermia, Obstructive, With Nephrolithiasis	Spermatocele, Obstructive azoospermia, Male infertility	OMIM:301060
Leukodystrophy, Hypomyelinating, 21	Athetosis, Dystonia, Cerebellar atrophy, Failure to thrive, Hypogonadotropic hypogonadism, Ataxia...	OMIM:619310
Partington Syndrome	Macroorchidism	ORPHA:94083
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Dementia, Inappropriate behavior, Apathy, Frontotemporal dementia, Motor deterioration, Anxiety, ...	ORPHA:412066
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Oligospermia, Cryptorchidism, Torticollis	OMIM:314300
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Testicular atrophy, Fasciculations, Decreased fertility	OMIM:313200
Ataxia-Telangiectasia-Like Disorder	Dystonia, Cerebellar atrophy, Frequent falls, Dilated fourth ventricle, Dysmetria, Chorea, Myoclo...	ORPHA:251347
46,Xx Testicular Disorder Of Sex Development	Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries	ORPHA:393
Premature Ovarian Failure 19	Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency	OMIM:619245
Dysplastic Cortical Hyperostosis	Abnormal cortical bone morphology, Increased bone mineral density, Splenomegaly	ORPHA:2204
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Osteopetrosis, Thickened cortex of long bones, Calvarial osteosclerosis	OMIM:607634
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3	Tremor, Ataxia, Slurred speech	OMIM:613227
X-Linked Intellectual Disability, Shashi Type	Macroorchidism, Everted lower lip vermilion	ORPHA:85286
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Unsteady gait, Obesity, Distal sensory impairment, Premature ovarian insufficiency	OMIM:618124
Spermatogenic Failure, X-Linked, 2	Testicular atrophy, Male infertility, Azoospermia	OMIM:309120
Hypogonadism, Male	Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias	OMIM:241100
Amelogenesis Imperfecta	Widely spaced teeth, Yellow-brown discoloration of the teeth, Hypomature dental enamel, Hypocalci...	ORPHA:88661
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st...	OMIM:308700
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Congenital Bilateral Absence Of Vas Deferens	Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility	ORPHA:48
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hypospadias, Tremor, Hypogonadism, Micropenis, Cerebellar vermis atrophy, Hyperactivity, Abdomina...	OMIM:300354
Ghosal Hematodiaphyseal Dysplasia	Leukopenia, Hyperostosis cranialis interna, Refractory anemia, Myelofibrosis, Increased bone mine...	OMIM:231095
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Postural tremor, Dystonia, Babinski sign, Cerebellar atrophy, Dysmetria, Hypogonadotropic hypogon...	OMIM:607694
Lead Poisoning	Oligospermia, Abnormal sperm morphology, Decreased circulating osteocalcin level, Infertility, Po...	ORPHA:330015
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Intermediate Osteopetrosis	Abnormality of bone mineral density, Generalized osteosclerosis, Increased susceptibility to frac...	ORPHA:210110
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density	OMIM:166740
Leukoencephalopathy, Brain Calcifications, And Cysts	Gait disturbance, Dystonia, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spastic...	OMIM:614561
Spinocerebellar Ataxia Type 38	Cerebellar atrophy, Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction	ORPHA:423296
Autosomal Dominant Cerebellar Ataxia	Impaired proprioception, Torticollis, Fasciculations, Paraparesis, Tongue fasciculations, Abnorma...	ORPHA:99
Spinocerebellar Ataxia Type 31	Cerebellar atrophy, Tremor, Impaired vibratory sensation, Spasticity, Gait ataxia	ORPHA:217012
Premature Ovarian Failure 2B	Primary amenorrhea, Premature ovarian insufficiency, Delayed puberty	OMIM:300604
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Hypospadias, Macroorchidism, Bilateral cleft lip and palate, High palate, Mitral valve prolapse, ...	OMIM:618874
48,Xxyy Syndrome	Infertility, Type II diabetes mellitus, Azoospermia, Stereotypy, Tremor, Attention deficit hypera...	ORPHA:10
Premature Ovarian Failure 2A	Secondary amenorrhea, Premature ovarian insufficiency	OMIM:300511
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh...	OMIM:614837
Spinocerebellar Ataxia 37	Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Unsteady gait	OMIM:615945
Boucher-Neuhauser Syndrome	Cerebellar atrophy, Spinocerebellar atrophy, Hypogonadotropic hypogonadism, Intention tremor, Ata...	OMIM:215470
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis	OMIM:122860
Familial Hyperprolactinemia	Menorrhagia, Infertility, Hemorrhagic ovarian cyst, Oligomenorrhea, Amenorrhea, Female hypogonadism	ORPHA:397685
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusi...	OMIM:619313
Spastic Paraplegia 46, Autosomal Recessive	Upper limb dysmetria, Babinski sign, Cerebellar atrophy, Infertility, Knee clonus, Upper limb spa...	OMIM:614409
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia	OMIM:277180
Spermatogenic Failure 29	Azoospermia	OMIM:618091
Spermatogenic Failure 13	Azoospermia	OMIM:615841
Spermatogenic Failure 14	Azoospermia	OMIM:615842
Deleted in azoospermia	Azoospermia	OMIM:400003
Spermatogenic Failure, Y-Linked, 2	Azoospermia	OMIM:415000
Kallmann Syndrome	Gait disturbance, Hypoplasia of penis, Abnormal morphology of female internal genitalia, Parapleg...	ORPHA:478
Hemochromatosis, Type 2A	Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Lethargy	OMIM:602390
Ovarian Dysgenesis 2	Secondary amenorrhea, Delayed puberty, Abnormality of the uterus, Primary amenorrhea, Premature o...	OMIM:300510
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Impaired proprioception, Type I diabetes mellitus, Cerebellar hypoplasia, Gait disturbance, Infer...	ORPHA:412057
Androgen Insensitivity Syndrome	Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o...	ORPHA:754
Riboflavin Transporter Deficiency	Cachexia, Diabetes insipidus, Myoclonus, Tremor, Ataxia, Hypogonadism	ORPHA:97229
Pituitary Dermoid And Epidermoid Cysts	Oligospermia, Increased circulating prolactin concentration, Enlarged pituitary gland, Oligomenor...	ORPHA:91351
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Tremor, Ataxia, Babinski sign, Spasticity	OMIM:611105
Endosteal Hyperostosis, Autosomal Dominant	Hyperostosis, Thickened cortex of long bones, Metatarsal diaphyseal endosteal sclerosis, Clavicul...	OMIM:144750
Xp22.13P22.2 Duplication Syndrome	Mandibular prognathia, Macroorchidism, Polycystic ovaries, High palate	ORPHA:284180
Osteosclerotic Metaphyseal Dysplasia	Clavicular sclerosis	OMIM:615198
Osteopetrosis, Autosomal Dominant 2	Hip osteoarthritis, Fractures of the long bones, Osteopetrosis, Generalized osteosclerosis, Mandi...	OMIM:166600
Tremor-Ataxia-Central Hypomyelination Syndrome	Postural tremor, Dystonia, Clumsiness, Babinski sign, Impaired distal proprioception, Dysmetria, ...	ORPHA:447896
Hemochromatosis, Type 1	Testicular atrophy, Hepatomegaly, Hepatocellular carcinoma, Azoospermia, Hypogonadotropic hypogon...	OMIM:235200
Myotonic Dystrophy 2	Oligospermia, Hypogonadism, Elevated circulating follicle stimulating hormone level, Diabetes mel...	OMIM:602668
Isolated Anencephaly	Cleft lip, Maternal diabetes, Thymus hyperplasia	ORPHA:563609
46,Xy Partial Gonadal Dysgenesis	Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog...	ORPHA:251510
Ataxia-Telangiectasia	Gait disturbance, Type II diabetes mellitus, Failure to thrive, Polycystic ovaries, Tremor, Abnor...	ORPHA:100
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Testicular atrophy, Secondary amenorrhea, Impaired distal proprioception, Rigidity, Bradykinesia,...	OMIM:157640
Distal Osteosclerosis	Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis	OMIM:126250
Spinocerebellar Ataxia Type 37	Gait disturbance, Diffuse cerebellar atrophy, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria...	ORPHA:363710
Leukoencephalopathy With Vanishing White Matter	Secondary amenorrhea, Gait disturbance, Primary amenorrhea, Premature ovarian insufficiency, Spas...	OMIM:603896
Intellectual Developmental Disorder, X-Linked 12	Gait disturbance, Small for gestational age, Increased body mass index, Truncal obesity, Tremor, ...	OMIM:300957
Isolated Splenogonadal Fusion	Abnormal penis morphology, Unilateral cryptorchidism, Abnormality of the scrotum, Abnormality of ...	ORPHA:457083
Migraine, Familial Hemiplegic, 1	Cerebellar atrophy, Hemiparesis, Tremor, Ataxia, Hemiplegia	OMIM:141500
Partial Androgen Insensitivity Syndrome	Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos...	ORPHA:90797
Mccune-Albright Syndrome	Macroorchidism, Goiter, Hepatitis, Bone marrow hypocellularity, Hepatocellular adenoma, Pancreati...	ORPHA:562
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Macroorchidism, Obesity, Shuffling gait, Lower limb spasticity, Tremor, Hyperactivity, Resting tr...	ORPHA:3077
Kallmann Syndrome With Spastic Paraplegia	Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor...	OMIM:308750
Leukodystrophy, Hypomyelinating, 11	Tremor, Ataxia, Cerebellar atrophy, Spasticity	OMIM:616494
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Dystonia, Cerebellar atrophy, Tremor, Inability to walk, Oculogyric crisis, Delayed menarche, Dif...	ORPHA:330050
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size	OMIM:614897
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Pontocerebellar atrophy, Tremor, Ataxia, Oculomotor apraxia, Eyelid myoclonus, Incoordination, Ce...	OMIM:618060
Schnitzler Syndrome	Leukocytosis, Anemia, Arthritis, Splenomegaly, Increased bone mineral density	ORPHA:37748
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff...	OMIM:228300
Spinocerebellar Ataxia Type 15/16	Cerebellar atrophy, Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb pos...	ORPHA:98769
Pycnodysostosis	Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density	OMIM:265800
Childhood Disintegrative Disorder	Dementia, Social and occupational deterioration, Mental deterioration, Motor deterioration, Anxie...	ORPHA:168782
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome	Ataxia, Hypergonadotropic hypogonadism	ORPHA:88637
46,Xx Gonadal Dysgenesis	Secondary amenorrhea, Streak ovary, Aplasia/hypoplasia of the uterus, Increased circulating gonad...	ORPHA:243
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c...	ORPHA:90793
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Babinski sign, Cerebellar atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Tremo...	OMIM:615362
Autosomal Dominant Spastic Ataxia Type 1	Impaired proprioception, Dystonia, Babinski sign, Spastic gait, Spastic dysarthria, Lower limb sp...	ORPHA:251282
Axial Osteomalacia	Osteomalacia, Increased bone mineral density	OMIM:109130
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Gait disturbance, Tremor, Aplasia/Hypoplasia of the cerebellum, Hypertonia, Type I diabetes melli...	ORPHA:1192
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Tremor, Ataxia, Cerebellar atrophy, Stereotypy	OMIM:617862
Non-Functioning Pituitary Adenoma	Macroorchidism, Anemia of inadequate production, Macroorchidism, postpubertal, Adrenocorticotropi...	ORPHA:91349
Adult Neuronal Ceroid Lipofuscinosis	Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Aplasia/Hypoplasia o...	ORPHA:79262
Ring Chromosome 21 Syndrome	Gait disturbance, Infertility, Diabetes insipidus, Amenorrhea, Azoospermia, Spasticity	ORPHA:1445
Hydrocephalus-Obesity-Hypogonadism Syndrome	Obesity, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Azoospermia	ORPHA:2183
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Gait disturbance, Upper limb spasticity, Cerebellar dysplasia, Stereotypy, Tremor, Micropenis, Hy...	ORPHA:457240
Normosmic Congenital Hypogonadotropic Hypogonadism	Increased female libido, Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Absenc...	ORPHA:432
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Complete Androgen Insensitivity Syndrome	Increased antimullerian hormone level, Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian...	ORPHA:99429
Oligodontia	Agenesis of mandibular premolar, Oligodontia, Delayed eruption of teeth, Short dental root, Agene...	ORPHA:99798
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Adrenal hyperplasia, Macroorchidism, Hypoglycemia, Endometrial carcinoma, Female external genital...	ORPHA:90790
Spinocerebellar Ataxia Type 12	Postural tremor, Gait disturbance, Parkinsonism, Cerebellar atrophy, Tremor by anatomical site, B...	ORPHA:98762
Senior-Loken Syndrome	Ataxia, Premature ovarian insufficiency	ORPHA:3156
Diethylstilbestrol Syndrome	Hypospadias, Testicular dysgenesis, Decreased fertility in females, Small for gestational age, Ab...	ORPHA:1916
Bone Marrow Failure Syndrome 5	Testicular atrophy, Hypogonadism	OMIM:618165
Gonadoblastoma	Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal dysgenesis with female appearance, male...	ORPHA:206484
Cach Syndrome	Secondary amenorrhea, Abnormal pons morphology, Cerebellar atrophy, Dysmetria, Hemiparesis, Cereb...	ORPHA:135
Chondrodysplasia, Blomstrand Type	Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification	OMIM:215045
Premature Ovarian Failure 10	Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr...	OMIM:612885
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i...	ORPHA:983
Young Syndrome	Azoospermia	OMIM:279000
Spinocerebellar Ataxia Type 20	Cerebellar atrophy, Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, In...	ORPHA:101110
Perrault Syndrome 4	Secondary amenorrhea, Oligomenorrhea, Hypoplasia of the ovary, Increased circulating gonadotropin...	OMIM:615300
Neuronopathy, Distal Hereditary Motor, Type Viia	Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis	OMIM:158580
Premature Ovarian Failure 1	Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level	OMIM:311360
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Dysmetria, Hypogonadotropic hypogonadism, Intention tremor, Ataxia, Dysdiadoc...	OMIM:614381
Spinocerebellar Ataxia, Autosomal Recessive 4	Dystonia, Babinski sign, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, G...	OMIM:607317
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Amelogenesis i...	OMIM:204700
Polyembryoma	Macroorchidism, Isosexual precocious puberty, Abnormality of the peritoneum	ORPHA:180229
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypogonadism, Azoospermia	OMIM:615234
Epilepsy, Progressive Myoclonic 7	Tremor, Ataxia, Myoclonus, Cerebellar atrophy	OMIM:616187
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation	Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Br...	OMIM:270500
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Elevated circulating growth hormone concentration	ORPHA:85327
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Gait disturbance, Truncal obesity, Premature ovarian insufficiency	ORPHA:2928
Spinal Muscular Atrophy, Jokela Type	Tremor, Distal sensory impairment, Difficulty walking, Fasciculations	OMIM:615048
Lethal Recessive Chondrodysplasia	Generalized osteosclerosis	ORPHA:1423
Osteogenesis Imperfecta, Type Xiii	Joint hypermobility, Osteoporosis, Increased bone mineral density	OMIM:614856
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	High palate, Hypoglycemia, Fasting hypoglycemia, Long penis, Mandibular prognathia, Insulin-resis...	OMIM:262190
Spermatogenic Failure 9	Globozoospermia	OMIM:613958
Infantile Sialic Acid Storage Disease	Hepatomegaly, High palate, Vacuolated lymphocytes, Gingival overgrowth, Cardiomegaly, Splenomegaly	OMIM:269920
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Bicornuate uterus, Aplasia/hypoplasia of the uterus, Azoospermia	ORPHA:2578
Ciliary Dyskinesia, Primary, 40	Infertility, Azoospermia	OMIM:618300
Trisomy 20P	Hypospadias, Macroorchidism, Micrognathia, Smooth philtrum, Abnormal palate morphology, Microdont...	ORPHA:261318
Premature Ovarian Failure 9	Amenorrhea, Premature ovarian insufficiency, Increased circulating gonadotropin level	OMIM:615724
Pandas	Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi...	ORPHA:66624
Segawa Syndrome, Autosomal Recessive	Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo...	OMIM:605407
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Oligospermia, Small for gestational age, Failure to thrive, Waddling gait, Diabetes mellitus, Cli...	OMIM:614813
Ovarian Fibrothecoma	Abnormality of the endometrium, Abnormality of the ovary, Increased serum testosterone level, Met...	ORPHA:314478
Paget Disease Of Bone 3	Patchy osteosclerosis, Fractures of the long bones, Osteolysis	OMIM:167250
Syngap1-Related Developmental And Epileptic Encephalopathy	Hypospadias, Gait disturbance, Poor coordination, Abnormality of pain sensation, Tremor, Ataxia, ...	ORPHA:544254
Buschke-Ollendorff Syndrome	Generalized osteosclerosis, Hyperostosis, Craniosynostosis, Arthritis, Abnormal bone structure, O...	ORPHA:1306
Spastic Paraplegia-Precocious Puberty Syndrome	Precocious puberty in males, Hyperplasia of the Leydig cells	ORPHA:2826
Hereditary Amyloidosis With Primary Renal Involvement	Oligospermia, Weight loss, Hypogonadism, Abnormal testis morphology, Primary testicular failure, ...	ORPHA:85450
Generalized Glucocorticoid Resistance Syndrome	Oligospermia, Adrenal hyperplasia, Decreased circulating aldosterone level, Infertility, Oligomen...	ORPHA:786
Spinocerebellar Ataxia 23	Babinski sign, Cerebellar atrophy, Dysmetria, Tremor, Impaired vibration sensation in the lower l...	OMIM:610245
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Gait disturbance, Cerebellar atrophy, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk	OMIM:618090
Trisomy X	Tremor, Secondary amenorrhea, Attention deficit hyperactivity disorder	ORPHA:3375
49,Xyyyy Syndrome	Azoospermia, External genital hypoplasia, Eunuchoid habitus, Increased circulating gonadotropin l...	ORPHA:99330
Lissencephaly Syndrome, Norman-Roberts Type	Microretrognathia, Patent foramen ovale, Atrial septal defect, Hypoplastic spleen	ORPHA:89844
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Amelogenesis imperfecta, Increased overbite, Enamel hypoplasia	OMIM:617297
Combined Oxidative Phosphorylation Deficiency 15	Obesity, Tremor, Ataxia, Incoordination, Unsteady gait, Abnormal pyramidal sign	OMIM:614947
Spinocerebellar Ataxia 18	Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis	OMIM:607458
Mulibrey Nanism	Hepatomegaly, Hypodontia, Pericardial constriction, Hypoplastic frontal sinuses, Microglossia, Ca...	OMIM:253250
Congenital Toxoplasmosis	Hepatomegaly, Lymphadenopathy, Anemia, Cardiomegaly, Thrombocytopenia, Jaundice	ORPHA:858
Aromatase Deficiency	Macroorchidism, postpubertal, Type II diabetes mellitus, Insulin resistance, Ambiguous genitalia,...	ORPHA:91
Multiple System Atrophy	Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Bradykinesia, Progressiv...	ORPHA:102
Combined Oxidative Phosphorylation Deficiency 45	Tremor, Ataxia, Failure to thrive	OMIM:618951
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Dysmetria, Steppage gait, Tremor, Ataxia, Distal sensory impairment, Gait ataxia	OMIM:618387
Spinocerebellar Ataxia, Autosomal Recessive 2	Dysmetria, Tremor, Ataxia, Incoordination, Cerebellar hypoplasia, Spasticity, Unsteady gait, Limb...	OMIM:213200
Behr Syndrome	Progressive spasticity, Gait disturbance, Babinski sign, Cerebellar atrophy, Dysmetria, Tremor, A...	OMIM:210000
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Loss of ability to walk, Unsteady gait	OMIM:617917
Spinocerebellar Ataxia Type 14	Rigidity, Myoclonus, Tremor, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Limb ataxi...	ORPHA:98763
Androgen Insensitivity, Partial	Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch...	OMIM:312300
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the ovary, Menorrhagia, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Abnormalit...	ORPHA:2795
Osteopetrosis, Autosomal Recessive 1	Osteopetrosis, Craniosynostosis, Anemia, Calvarial osteosclerosis, Osteomyelitis, Pathologic frac...	OMIM:259700
Carnitine Deficiency, Systemic Primary	Decreased carnitine level in liver, Hepatomegaly, Hypertrophic cardiomyopathy, Hypoglycemia, Endo...	OMIM:212140
Osteopetrosis And Infantile Neuroaxonal Dystrophy	Osteopetrosis	OMIM:600329
Spinocerebellar Ataxia 48	Dystonia, Babinski sign, Cerebellar atrophy, Cachexia, Dysmetria, Chorea, Tremor, Ataxia, Parkins...	OMIM:618093
Premature Ovarian Failure 7	Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Clitoral hypertrop...	OMIM:612964
Atypical Pantothenate Kinase-Associated Neurodegeneration	Clumsiness, Gait disturbance, Parkinsonism, Rigidity, Frequent falls, Chorea, Oromandibular dysto...	ORPHA:216873
Spinocerebellar Ataxia Type 42	Impaired vibration sensation at ankles, Babinski sign, Cerebellar atrophy, Spastic gait, Cerebell...	ORPHA:458803
Dentin Dysplasia, Type I	Microdontia, Periapical bone loss, Pulp obliteration, Abnormality of dental morphology, Taurodont...	OMIM:125400
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Dystonia, Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism	ORPHA:401901
Dyskinesia, Limb And Orofacial, Infantile-Onset	Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus	OMIM:616921
Otopalatodigital Syndrome Type 1	Abnormal vertebral segmentation and fusion, Synostosis of carpal bones, Increased bone mineral de...	ORPHA:90650
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Osteopetrosis, Anemia, Splenomegaly	OMIM:615085
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Bicornuate uterus, Hypoplasia of the uterus, Cerebellar cyst, Azoospermia	OMIM:601076
Dentinogenesis Imperfecta	Yellow-brown discoloration of the teeth, Hypocalcification of dental enamel, Pulp obliteration, G...	ORPHA:49042
Osteopetrosis, Autosomal Recessive 2	Thrombocytopenia, Osteopetrosis, Anemia, Diaphyseal sclerosis, Osteomyelitis, Hepatosplenomegaly,...	OMIM:259710
Transient Neonatal Diabetes Mellitus	Maternal diabetes, Macroglossia, Abnormal heart morphology, Hyperglycemia, Diabetic ketoacidosis,...	ORPHA:99886
Müllerian Aplasia And Hyperandrogenism	Abnormality of the ovary, Abnormal vagina morphology, Increased serum testosterone level, Primary...	ORPHA:247768
Neuroectodermal Melanolysosomal Disease	Rigidity, Tremor, Ataxia, Hypertonia, Cerebellar hypoplasia, Spasticity, Abnormal cerebellar verm...	ORPHA:33445
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus	ORPHA:494526
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Dystonia, Babinski sign, Cerebellar atrophy, Scissor gait, Loss of ambulation, Oromandibular dyst...	ORPHA:521406
Spinocerebellar Ataxia, Autosomal Recessive 17	Dysmetria, Tremor, Truncal ataxia, Cerebellar hypoplasia, Unsteady gait	OMIM:616127
Satoyoshi Syndrome	Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Abnormality of the uterus, Nephrog...	ORPHA:3130
Spinocerebellar Ataxia, Autosomal Recessive 13	Cerebellar atrophy, Dilated fourth ventricle, Dysmetria, Inferior vermis hypoplasia, Tremor, Atax...	OMIM:614831
Lethal Congenital Contracture Syndrome 10	Micrognathia, High palate, Ventricular septal defect, Long philtrum, Hypoplasia of the thymus, Ca...	OMIM:617022
Hypermanganesemia With Dystonia 2	Gait disturbance, Dystonia, Cerebellar atrophy, Babinski sign, Oromandibular dystonia, Bradykines...	OMIM:617013
Albers-Schönberg Osteopetrosis	Generalized osteosclerosis, Anemia, Arthritis, Osteomyelitis, Mandibular osteomyelitis, Recurrent...	ORPHA:53
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Smooth philtrum, Cardiomegaly, Bilateral cryptorchidism, Downturned co...	OMIM:618652
Multiple System Atrophy, Cerebellar Type	Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Bradykinesia, Progressiv...	ORPHA:227510
Ataxia-Telangiectasia	Dystonia, Choreoathetosis, Hypoplasia of the thymus, Myoclonus, Tremor, Ataxia, Abnormal spermato...	OMIM:208900
Encephalopathy, Progressive, With Or Without Lipodystrophy	Dystonia, Myoclonus, Tremor, Hyperactivity, Ataxia, Tetraparesis, Spasticity, Abnormal pyramidal ...	OMIM:615924
Gapo Syndrome	Oligospermia, Dysmenorrhea, Hypogonadism, Amenorrhea	ORPHA:2067
Spermatogenic Failure 28	Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f...	OMIM:618086
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2	Cerebellar atrophy, Dysmetria, Tremor, Aplasia of the inferior half of the cerebellar vermis, Dys...	OMIM:610185
46,Xx Ovotesticular Disorder Of Sex Development	Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali...	ORPHA:2138
Multiple System Atrophy, Parkinsonian Type	Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Bradykinesia, Progressiv...	ORPHA:98933
Spastic Ataxia 2, Autosomal Recessive	Babinski sign, Cerebellar atrophy, Head titubation, Frequent falls, Dysmetria, Spastic ataxia, Fa...	OMIM:611302
Isolated Thyroid-Stimulating Hormone Deficiency	Macroorchidism, Goiter, Thyroid hypoplasia, Macroglossia, Pituitary hypothyroidism, Decreased thy...	ORPHA:90674
Microphthalmia, Syndromic 9	Micrognathia, Ventricular septal defect, Truncus arteriosus, Hypoplastic left atrium, Single vent...	OMIM:601186
Bardet-Biedl Syndrome 1	Abnormality of the ovary, Gait imbalance, Poor coordination, Truncal obesity, Hypogonadism, Vagin...	OMIM:209900
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Dystonia, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements	OMIM:618425
Spermatogenic Failure 4	Recurrent spontaneous abortion, Azoospermia	OMIM:270960
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hypospadias, Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, femal...	ORPHA:90791
Adult-Onset Autosomal Dominant Leukodystrophy	Impaired proprioception, Aplasia/Hypoplasia of the cerebellum, Abnormal pyramidal sign, Abnormal ...	ORPHA:99027
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Gait disturbance, Dystonia, Cerebellar atrophy, Dysmetria, Tremor, Oculomotor apraxia, Dysdiadoch...	OMIM:617145
Ectodermal Dysplasia-Syndactyly Syndrome 2	Enamel hypoplasia, Cardiomegaly, Thin upper lip vermilion	OMIM:613576
Osteopetrosis, Autosomal Recessive 4	Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia, Recur...	OMIM:611490
Perrault Syndrome 6	Secondary amenorrhea, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Irregula...	OMIM:617565
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Hypodontia, Oligodontia, Abnormal dental enamel morphology, Splenomegaly, Cholestas...	ORPHA:59303
Tetragametic Chimerism	Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, True hermaphroditism, ...	ORPHA:199310
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Oligospermia, Hypospadias, Adrenal hyperplasia, Increased circulating progesterone, Fused labia m...	ORPHA:95699
Retinal Dystrophy With Or Without Extraocular Anomalies	Secondary amenorrhea, Goiter, Premature ovarian insufficiency	OMIM:617175
Symptomatic Form Of Hemochromatosis Type 1	Testicular atrophy, Hepatomegaly, Cholangiocarcinoma, Hepatocellular carcinoma, Hyperglycemia, Hy...	ORPHA:465508
Congenital Bile Acid Synthesis Defect Type 4	Type II diabetes mellitus, Cholelithiasis, Tremor, Ataxia, Hypogonadism	ORPHA:79095
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, At...	OMIM:619028
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Azoospermia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation tes...	ORPHA:280679
48,Xxxy Syndrome	Infertility, Type II diabetes mellitus, Azoospermia, Small scrotum, Tremor, Hypogonadism, Attenti...	ORPHA:96263
Tonne-Kalscheuer Syndrome	Hypospadias, Tremor, Micropenis, Broad-based gait, Spasticity, Cryptorchidism, Decreased testicul...	OMIM:300978
Infantile Neuronal Ceroid Lipofuscinosis	Clumsiness, Dystonia, Cerebellar atrophy, Myoclonic spasms, Dysmetria, Chorea, Myoclonus, Tremor,...	ORPHA:79263
Premature Ovarian Failure 8	Ovarian neoplasm, Primary amenorrhea, Premature ovarian insufficiency, Increased circulating gona...	OMIM:615723
Polyendocrine-Polyneuropathy Syndrome	Central hypothyroidism, Dystonia, Type II diabetes mellitus, Hypogonadotropic hypogonadism, Decre...	ORPHA:453533
Wolfram Syndrome 1	Testicular atrophy, Diabetes insipidus, Tremor, Ataxia, Diabetes mellitus, Hypothyroidism	OMIM:222300
Spinocerebellar Ataxia 7	Babinski sign, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tremor, Progressi...	OMIM:164500
Gaucher Disease Type 1	Leukopenia, Anemia, Osteopenia, Pathologic fracture, Splenomegaly, Hypersplenism, Increased bone ...	ORPHA:77259
Coenzyme Q10 Deficiency, Primary, 4	Cerebellar atrophy, Myoclonus, Tremor, Ataxia, Abnormal pyramidal sign	OMIM:612016
Premature Ovarian Failure 3	Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus	OMIM:608996
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism	OMIM:307500
Premature Ovarian Failure 5	Secondary amenorrhea, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Premature ovaria...	OMIM:611548
Mirage Syndrome	Hypospadias, Hypoglycemia, Leukopenia, Anemia, Lymphopenia, Hypergonadotropic hypogonadism, Throm...	OMIM:617053
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Ovarian Dysgenesis 9	Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, H...	OMIM:619665
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Clumsiness, Progressive spasticity, Babinski sign, Cerebellar atrophy, Impaired distal propriocep...	ORPHA:137898
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Gait disturbance, Kinetic tremor	OMIM:611808
Dystonia 3, Torsion, X-Linked	Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi...	OMIM:314250
Intellectual Developmental Disorder, Autosomal Recessive 6	Tremor, Dystonia, Myoclonus, Involuntary movements	OMIM:611092
Diastrophic Dysplasia	Joint stiffness, Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger	ORPHA:628
45,X/46,Xy Mixed Gonadal Dysgenesis	Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni...	ORPHA:1772
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Babinski sign, Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Tongue fasciculations	OMIM:618170
46,Xy Complete Gonadal Dysgenesis	Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism	ORPHA:242
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Dystonia, Babinski sign, Cerebellar atrophy, Dysmetria, Bradykinesia, Tremor, Ataxia, Olivopontoc...	OMIM:615157
Myopathy, Mitochondrial, And Ataxia	Dysmetria, Tremor, Ataxia, Hyperthyroidism, Dysdiadochokinesis, Inability to walk, Primary amenor...	OMIM:617675
Timothy Syndrome	Ventricular septal defect, Hypoglycemia, Microdontia, Cardiomegaly, Tetralogy of Fallot, Thin upp...	OMIM:601005
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Dystonia, Cerebellar atrophy, Myoclonus, Tremor, Progressive cerebellar ataxia, Abnormal pyramida...	ORPHA:139485
Majeed Syndrome	Leukocytosis, Synovitis, Hypochromic microcytic anemia, Increased susceptibility to fractures, Co...	ORPHA:77297
Spinocerebellar Ataxia Type 8	Dystonia, Cerebellar atrophy, Rigidity, Hypoplasia of the pons, Spastic dysarthria, Bradykinesia,...	ORPHA:98760
Premature Ovarian Failure 16	Reduced antral follicle count, Decreased serum estradiol, Elevated circulating follicle stimulati...	OMIM:618723
Dysosteosclerosis	Recurrent fractures, Craniofacial hyperostosis, Increased bone mineral density, Coarse metaphysea...	ORPHA:1782
Hyperphenylalaninemia, Bh4-Deficient, A	Dystonia, Rigidity, Choreoathetosis, Small for gestational age, Bradykinesia, Tremor, Ataxia, Hyp...	OMIM:261640
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Fatiguable weakness of proximal limb muscles, Limb fasciculations, Tremor, Distal sensory impairm...	ORPHA:90117
Lower Motor Neuron Syndrome With Late-Adult Onset	Gait disturbance, Fasciculations, Tremor, Inability to walk, Tongue fasciculations, Impaired dist...	ORPHA:276435
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypospadias, Elevated circulating follicle stimulating hormone level, Ambiguous genitalia, male, ...	ORPHA:90796
Aspartylglucosaminuria	Carious teeth, Macroorchidism, Hepatomegaly, Macroglossia, Mandibular prognathia, Gingival overgr...	ORPHA:93
Hyperphenylalaninemia, Bh4-Deficient, C	Dystonia, Choreoathetosis, Myoclonus, Tremor, Hypertonia	OMIM:261630
Premature Ovarian Failure 6	Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema...	OMIM:612310
Spinocerebellar Ataxia, Autosomal Recessive 21	Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Distal sensory impairment, Spasticity, Gait a...	OMIM:616719
Proximal 16P11.2 Microduplication Syndrome	Failure to thrive, Decreased body mass index, Tremor, Micropenis, Attention deficit hyperactivity...	ORPHA:370079
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Focal dystonia, Br...	ORPHA:240103
Spondyloepiphyseal Dysplasia Tarda	Hip osteoarthritis, Knee osteoarthritis, Abnormal epiphyseal ossification, Localized osteoporosis...	ORPHA:93284
Intellectual Developmental Disorder, X-Linked 104	Tremor, Hyperactivity, Ataxia, Spasticity	OMIM:300983
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Hypoglycemia, Anemia	OMIM:618838
Maturity-Onset Diabetes Of The Young, Type 10	Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus	OMIM:613370
Parkinson Disease 15, Autosomal Recessive Early-Onset	Dystonia, Babinski sign, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Br...	OMIM:260300
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Bone-marrow foam cells, Cardiomyopathy, Splen...	OMIM:256550
Spondyloepiphyseal Dysplasia, Nishimura Type	Abnormal bone ossification, Wide anterior fontanel, Increased bone mineral density, Delayed patel...	ORPHA:163649
Spinocerebellar Ataxia 42	Impaired vibration sensation at ankles, Babinski sign, Cerebellar atrophy, Spastic gait, Spastic ...	OMIM:616795
Metaphyseal Dysplasia, Braun-Tinschert Type	Thin bony cortex, Sclerosis of middle finger phalanx, Osteopenia, Coarse metaphyseal trabeculariz...	ORPHA:85188
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Hepatomegaly, Hypoketotic hypoglycemia, Cardiomegaly, Macrovesicular hepa...	OMIM:600649
Beemer-Ertbruggen Syndrome	Thrombocytopenia, Increased bone mineral density	ORPHA:1237
X-Linked Intellectual Disability, Cabezas Type	Cachexia, Tremor, Hyperactivity, Hypogonadism, Broad-based gait, Obesity, Hypoplasia of penis, De...	ORPHA:85293
Deafness-Hypogonadism Syndrome	Abnormal spermatogenesis, Delayed puberty, Hypergonadotropic hypogonadism	ORPHA:90646
Proteus-Like Syndrome	Thymus hyperplasia, Open bite, Mandibular prognathia, Polycystic ovaries, Splenomegaly, Abnormali...	ORPHA:2969
X-Linked Charcot-Marie-Tooth Disease Type 3	Gait disturbance, Tremor, Inability to walk, Spastic paraparesis, Difficulty walking, Somatic sen...	ORPHA:101077
Gracile Bone Dysplasia	Micropenis, Ankyloglossia, Hypoplastic spleen, Asplenia	OMIM:602361
Premature Ovarian Failure 18	Secondary amenorrhea, Irregular menstruation, Decreased antimullerian hormone level, Elevated cir...	OMIM:619203
Early-Onset Schizophrenia	Unhappy demeanor, Low self esteem, Suicidal ideation, Cognitive impairment, Irritability, Anhedon...	ORPHA:96369
Woodhouse-Sakati Syndrome	Dystonia, Streak ovary, Choreoathetosis, Insulin-resistant diabetes mellitus, Hypoplasia of the f...	ORPHA:3464
Leukocyte Adhesion Deficiency, Type Iii	Leukocytosis, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Extramedullary hematopoiesis	OMIM:612840
Acrofacial Dysostosis, Catania Type	Hypospadias, Cryptorchidism, Carious teeth	OMIM:101805
Glycosylphosphatidylinositol Biosynthesis Defect 15	Cerebellar atrophy, Dysmetria, Tremor, Inability to walk, Cerebellar hypoplasia, Apraxia, Spastic...	OMIM:617810
49,Xxxxy Syndrome	Infertility, Type II diabetes mellitus, Azoospermia, Small scrotum, Tremor, Hypogonadism, Attenti...	ORPHA:96264
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Gait disturbance, Babinski sign, Cerebellar atrophy, Frequent falls, Dysmetria, Hand tremor, Para...	OMIM:302800
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Wide anterior fontanel, Thin bony cortex, Increased bone mineral density, Osteopenia	ORPHA:85184
Carney Complex	Oligospermia, Thyroid carcinoma, Sertoli cell neoplasm, Abnormal morphology of female internal ge...	ORPHA:1359
Leukodystrophy, Hypomyelinating, 6	Dystonia, Cerebellar atrophy, Rigidity, Choreoathetosis, Tremor, Ataxia, Spasticity	OMIM:612438
Bloom Syndrome	Oligospermia, Small for gestational age, Azoospermia, Male infertility, Diabetes mellitus, Premat...	ORPHA:125
Sickle Cell Anemia	Leukocytosis, Hepatomegaly, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red cell sickli...	OMIM:603903
Jaberi-Elahi Syndrome	Dystonia, Cerebellar atrophy, Choreoathetosis, Dysmetria, Failure to thrive, Tremor, Inability to...	OMIM:617988
Lopes-Maciel-Rodan Syndrome	Dystonia, Cerebellar atrophy, Bradykinesia, Tremor, Hypertonia, Ankle clonus, Spasticity, Unstead...	OMIM:617435
Dopa-Responsive Dystonia	Gait disturbance, Dystonia, Arm dystonia, Rigidity, Poor coordination, Abnormality of extrapyrami...	ORPHA:255
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly	OMIM:252920
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Pancreatic hypoplasia, Mitral valve prolapse, Azoospermi...	OMIM:602782
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Clumsiness, Limb myoclonus, Frequent falls, Myoclonus, Tremor, Eyelid myoclonus, Inability to wal...	ORPHA:2590
Autosomal Spastic Paraplegia Type 58	Babinski sign, Clonus, Cerebellar atrophy, Frequent falls, Torticollis, Dysmetria, Chorea, Spasti...	ORPHA:397946
Craniometaphyseal Dysplasia	Osteopetrosis, Craniofacial hyperostosis	ORPHA:1522
Amyloidosis, Hereditary, Transthyretin-Related	Paraplegia, Hemiparesis, Tremor, Ataxia, Impotence, Spasticity	OMIM:105210
49,Xxxyy Syndrome	Micrognathia, Mandibular prognathia, External genital hypoplasia, Increased circulating gonadotro...	ORPHA:261534
Atypical Rett Syndrome	Involuntary movements, Gait disturbance, Dystonia, Limb myoclonus, Impaired pain sensation, Tongu...	ORPHA:3095
Premature Ovarian Failure 17	Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, D...	OMIM:619146
Combined Oxidative Phosphorylation Deficiency 33	Left ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Cardiomyopathy	OMIM:617713
Dystonia 11, Myoclonic	Tremor, Myoclonus, Torticollis, Writer's cramp	OMIM:159900
Paget Disease Of Bone 5, Juvenile-Onset	Ankylosis, Recurrent fractures, Osteoporosis, Increased bone mineral density	OMIM:239000
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Dysmetria, Tremor, Progressive cerebellar ataxia, Hyperthyroidism, Dysdiadochokinesis, Primary am...	ORPHA:502423
Parkinson Disease 19A, Juvenile-Onset	Dystonia, Rigidity, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Pa...	OMIM:615528
Myotonic Dystrophy 1	Testicular atrophy, Cholelithiasis, Hypogonadism	OMIM:160900
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Babinski sign, Steppage gait, Tremor, Distal sensory impairment, Hypertonia, Spasticity	OMIM:609260
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Cerebellar atrophy, Poor motor coordination, Dilated fourth ventricle, Dysmetria, Tremor, Cerebel...	ORPHA:1170
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Cerebellar atrophy, Rigidity, Abnormality of extrapyramidal motor function, Bradykinesi...	OMIM:300894
Ovarian Fibroma	Abnormality of the ovary, Gonadal calcification, Ovarian fibroma	ORPHA:314473
Otodental Syndrome	Carious teeth, Pulp calcification, Long philtrum, Odontoma, Abnormal dental enamel morphology, Gi...	ORPHA:2791
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus	OMIM:600496
Tricho-Dento-Osseous Syndrome	Periapical tooth abscess, Increased bone mineral density	ORPHA:3352
Spinocerebellar Ataxia Type 27	Gait disturbance, Cerebellar atrophy, Hand tremor, Tremor, Truncal ataxia, Akinesia, Limb ataxia,...	ORPHA:98764
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Dystonia, Gait disturbance, Babinski sign, Rigidity, Myoclonus, Bradykinesia, Tr...	ORPHA:314632
Cln5 Disease	Clumsiness, Poor gross motor coordination, Cerebellar atrophy, Dysmetria, Tremor, Hyperactivity, ...	ORPHA:228360
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities	High palate, Cardiomegaly	OMIM:618654
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Failure to thrive, Tremor, Ataxia, Inability to walk, Hypertonia, Cerebellar hypoplasia, Attentio...	OMIM:619556
X-Linked Charcot-Marie-Tooth Disease Type 1	Tremor, Gait disturbance, Ataxia, Impaired pain sensation	ORPHA:101075
Familial Atrial Myxoma	Bacterial endocarditis, Cardiac myxoma, Cardiomegaly, Cholestasis, Pulmonic valve myxoma, Jaundice	ORPHA:615
Tay-Sachs Disease	Clumsiness, Gait disturbance, Dystonia, Cerebellar atrophy, Progressive spasticity, Frequent fall...	ORPHA:845
Basal Ganglia Calcification, Idiopathic, 1	Athetosis, Gait disturbance, Dystonia, Parkinsonism, Rigidity, Chorea, Bradykinesia, Limb dysmetr...

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Gene: Camk4 MGI:88258

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Human diseases caused by Camk4 mutations