Gene Summary

Name:
calcium/calmodulin-dependent protein kinase IV
Synonyms:
CaMKIV/Gr,  D18Bwg0362e,  CaMKIV,  Ca2+/calmodulin-dependent protein kinase type IV/Gr,  A430110E23Rik

IMPC Data Collections

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
abnormal tooth morphology Camk4em1(IMPC)Ccpcz HOM Early adult 2.31×10-18
enlarged heart Camk4em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal testis morphology Camk4em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged testis Camk4em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Camk4em1(IMPC)Ccpcz HOM Early adult 0.00
decreased spleen weight Camk4em1(IMPC)Ccpcz HOM   Early adult 1.05×10-05
increased fasting circulating glucose level Camk4em1(IMPC)Ccpcz HOM   Early adult 5.29×10-05
abnormal thymus morphology Camk4em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart morphology Camk4em1(IMPC)Ccpcz HOM Early adult 0.00
small spleen Camk4em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Camk4em1(IMPC)Ccpcz HOM Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Hind Leg and Hip

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

X-ray

XRay Images Forepaw

15 Images

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.

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 Similarity of
phenotypes
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...