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Gene: Camk4 MGI:88258

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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

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 System Allele Zyg Sex Life Stage P Value
abnormal tooth morphology Camk4em1(IMPC)Ccpcz HOM Early adult 5.48×10-19
abnormal testis morphology Camk4em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged testis Camk4em1(IMPC)Ccpcz HOM Early adult 0.00
small spleen Camk4em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Camk4em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Camk4em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Camk4em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart morphology Camk4em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged heart Camk4em1(IMPC)Ccpcz HOM Early adult 0.00

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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

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Hind Leg and Hip

30 Images

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X-ray

XRay Images Forepaw

15 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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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.

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
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 50
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... OMIM:619528
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... OMIM:301059
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Spermatogenic Failure 32
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:619831
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 25
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Autosomal Recessive Spastic Paraplegia Type 46
Cerebellar atrophy, Lower limb spasticity, Broad-based gait, Ataxia, Babinski sign, Abnormal pyra... ORPHA:320391
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility OMIM:617593
Spermatogenic Failure 11
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure, X-Linked, 5
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Hypogonadism... OMIM:615768
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 42
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... OMIM:618745
Isochromosomy Yq
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Buschke-Ollendorff Syndrome
Osteopoikilosis, Flexion contracture, Joint stiffness OMIM:166700
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism, High palate OMIM:300428
Gemignani Syndrome
Hypoplasia of penis, Ataxia, Impaired pain sensation, Hemiplegia/hemiparesis, Delayed puberty, Ab... ORPHA:2074
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
17Q11.2 Microduplication Syndrome
Abnormal dental enamel morphology, Thin vermilion border, Macroorchidism, Malar flattening, Ename... ORPHA:139474
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spinocerebellar Ataxia 32
Cerebellar atrophy, Ataxia, Azoospermia, Infertility, Testicular atrophy OMIM:613909
Spermatogenic Failure 29
Non-obstructive azoospermia, Male infertility, Immotile sperm OMIM:618091
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Spinocerebellar Ataxia Type 32
Male infertility, Cerebellar atrophy, Azoospermia, Progressive cerebellar ataxia, Testicular atrophy ORPHA:276183
Spastic Paraparesis And Deafness
Tremor, Hypogonadism, Spastic paraparesis OMIM:312910
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Flynn-Aird Syndrome
Increased bone mineral density, Joint stiffness, Osteoporosis, Dementia, Increased bone density w... OMIM:136300
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size, Gait disturbance ORPHA:1875
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Atkin-Flaitz Syndrome
Abnormality of the dentition, Thick vermilion border, Everted lower lip vermilion, Macroorchidism... ORPHA:1193
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis OMIM:615198
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Leukodystrophy, Hypomyelinating, 21
Cerebellar atrophy, Hypogonadotropic hypogonadism, Ataxia, Cryptorchidism, Athetosis, Tetraparesi... OMIM:619310
Morbid Obesity And Spermatogenic Failure
Obesity, Oligozoospermia, Azoospermia, Type II diabetes mellitus, Infertility OMIM:615703
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Lujan-Fryns Syndrome
Atrial septal defect, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Abnormality of th... ORPHA:776
Intellectual Developmental Disorder, X-Linked 21
Mandibular prognathia, Tented upper lip vermilion, Dental crowding, Macroorchidism, Open mouth OMIM:300143
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Ataxia, Hypergonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Dysm... OMIM:617145
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Fragile X Syndrome
Macroorchidism, postpubertal, Mandibular prognathia, Congenital macroorchidism, Mitral valve prol... OMIM:300624
Gordon Holmes Syndrome
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Chorea, Secondary amenorrhea, Primary ... OMIM:212840
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation, Male infertility OMIM:261550
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Megalencephaly
Macroorchidism, Atrial septal defect, Long penis ORPHA:2477
Ethanolaminosis
Cardiomegaly OMIM:227150
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia, Cerebellar vermis ... OMIM:617018
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism, Thick lower lip vermilion OMIM:300238
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide... OMIM:300602
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... ORPHA:166119
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mandibular prognathia, Cardiomegaly, Protruding tongue, Abnormal atrioventricular valve morpholog... ORPHA:324410
Osteochondrosis Of The Metatarsal Bone
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness ORPHA:564003
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Fragile X Syndrome
Macroorchidism, Sinusitis, Mandibular prognathia, Mitral valve prolapse ORPHA:908
Spermatogenic Failure 17
Male infertility OMIM:617214
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:3152
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Cerebellar hypoplasia OMIM:213000
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Melorheostosis
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... ORPHA:2485
Partington Syndrome
Macroorchidism ORPHA:94083
Leukoencephalopathy With Dystonia And Motor Neuropathy
Impaired vibratory sensation, Torticollis, Hypergonadotropic hypogonadism, Azoospermia, Head trem... OMIM:613724
Classic Galactosemia
Male infertility, Speech apraxia, Decreased serum insulin-like growth factor 1, Premature ovarian... ORPHA:79239
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
4H Leukodystrophy
Cerebellar atrophy, Dystonia, Ataxia, Hypogonadotropic hypogonadism, Decreased response to growth... ORPHA:289494
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Tremor, Crypt... OMIM:300957
X-Linked Intellectual Disability, Shashi Type
Macroorchidism, Everted lower lip vermilion ORPHA:85286
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Perrault Syndrome 1
Cerebellar atrophy, Ataxia, Increased circulating gonadotropin level, Spastic diplegia, Primary a... OMIM:233400
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Testicular atrophy, Decreased fertility, Fasciculations OMIM:313200
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Hypospadias, Bilateral cleft lip and palate, Mitral valve prolapse, Hig... OMIM:618874
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Kennedy Disease
Decreased fertility, Gait disturbance, Type II diabetes mellitus, Erectile dysfunction, Testicula... ORPHA:481
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Obesit... OMIM:300055
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Dystonia, Ataxia, Hypogonadotropic hypogonadism, Postural tremor, Tremor, Bab... OMIM:607694
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Akinesia, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tru... ORPHA:98764
Ataxia-Telangiectasia
Diabetes mellitus, Ataxia, Tremor, Polycystic ovaries, Aplasia/Hypoplasia of the thymus, Gait dis... ORPHA:100
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Pontoc... OMIM:618060
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Alpha-Methylacyl-Coa Racemase Deficiency
Hypergonadotropic hypogonadism, Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor OMIM:614307
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking ORPHA:423296
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... OMIM:614561
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, H... OMIM:231095
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Cerebellar atrophy, Tremor, Gait ataxia, Spasticity ORPHA:217012
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr... OMIM:614840
Spinocerebellar Ataxia 37
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls OMIM:615945
Ataxia-Telangiectasia-Like Disorder
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Hypergonadotr... ORPHA:251347
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis OMIM:607634
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testos... OMIM:308700
Kallmann Syndrome With Spastic Paraplegia
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypog... OMIM:308750
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Cryptorchidism, Hypertonia, Gait disturbance, Type I diabetes mellitus, Aplasia/Hypoplasi... ORPHA:1192
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... ORPHA:210110
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Oculogyric crisis, Tremor, Inability to walk, Difficulty walking, Dystonia, D... ORPHA:330050
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Micro... OMIM:309520
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Broad-based gait, Resting tremor, Parkinsonism, Tremor, Obesity, Shuffling... ORPHA:3077
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypospadias, Tremor, Cryptorchidism, Gait ataxia, Abdominal obesity, Hypogonadism, Delayed pubert... OMIM:300354
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Hypogonadotropic hypogonadism, Ataxia, Gait ataxia, Spinocerebellar atrophy, ... OMIM:215470
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, High palate, Mandibular prognathia, Polycystic ovaries ORPHA:284180
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Overweight, Tremor, Hyperkinetic movements... ORPHA:457240
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata... OMIM:607317
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Pancytopenia, Elevated circulating growth hormone concentration,... ORPHA:562
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo... OMIM:611490
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia OMIM:141500
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... ORPHA:478
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypoplasia of the pons, Impaired proprioception, Hand tremor, Head tremor, Hypothyroidism, Gait d... ORPHA:412057
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturban... ORPHA:363710
Spinocerebellar Ataxia Type 21
Progressive cerebellar ataxia, Cerebellar vermis atrophy, Akinesia, Gait ataxia ORPHA:98773
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture, Anemia OMIM:620366
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Dysme... OMIM:614381
Lead Poisoning
Somatic sensory dysfunction, Decreased female libido, Small for gestational age, Abnormality of t... ORPHA:330015
Tremor-Ataxia-Central Hypomyelination Syndrome
Dystonia, Ataxia, Hypogonadotropic hypogonadism, Postural tremor, Impaired distal proprioception,... ORPHA:447896
Riboflavin Transporter Deficiency
Ataxia, Cachexia, Tremor, Hypogonadism, Myoclonus, Diabetes insipidus ORPHA:97229
Fragile X Tremor/Ataxia Syndrome
Cerebellar atrophy, Resting tremor, Premature ovarian insufficiency, Postural tremor, Parkinsonis... OMIM:300623
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Resting tremor, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Parkinsonism, Im... OMIM:157640
Schnitzler Syndrome
Increased bone mineral density, Splenomegaly, Leukocytosis, Arthritis, Anemia ORPHA:37748
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
48,Xxyy Syndrome
Hypoplasia of penis, Hypergonadotropic hypogonadism, Ataxia, Tremor, Cryptorchidism, Obesity, Azo... ORPHA:10
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Cerebellar vermis atrophy OMIM:615957
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Torticollis, Oligozoospermia OMIM:314300
Hemochromatosis, Type 1
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardiomyopathy, Azoosper... OMIM:235200
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Polyembryoma
Macroorchidism, Abnormal peritoneum morphology, Irregular menstruation, Isosexual precocious puberty ORPHA:180229
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Ataxia, Tremor, Obesity, Cerebellar hypoplasia, Limb dystonia OMIM:620270
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... ORPHA:98762
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Hypergonadotropic hypogonadism, Tremor, Hypoesthesia, Obesity, Prim... OMIM:619737
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Coiled sperm flagella, Short sperm flagella, Male infertility OMIM:620197
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Abnormal central motor function, Neoplasm of the anterior pituitary, Ol... ORPHA:91351
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... ORPHA:206484
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Dysmetria, ... OMIM:610185
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Tremor, Myoclonus OMIM:616187
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... ORPHA:99429
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the... ORPHA:251282
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Ataxia, Increased circulating gonadotropin level, ... ORPHA:243
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... OMIM:610245
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the testes, Hypoplasia of penis ORPHA:3055
Trisomy 20P
Hypospadias, Micrognathia, Abnormality of the dentition, Cryptorchidism, Downturned corners of mo... ORPHA:261318
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal mot... OMIM:615362
Mulibrey Nanism
Hepatomegaly, Dental crowding, Cardiomegaly, Absent frontal sinuses, Hypoplastic frontal sinuses,... OMIM:253250
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Gingival overgrowth, High palate OMIM:269920
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Downturned corners of mouth, A... OMIM:618652
Tonne-Kalscheuer Syndrome
Broad-based gait, Hypospadias, Tremor, Cryptorchidism, Spasticity, Micropenis, Decreased testicul... OMIM:300978
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, ... OMIM:213200
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Multiple System Atrophy
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:102
Isolated Anencephaly
Cleft lip, Thymus hyperplasia ORPHA:563609
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Ataxia, Tremor, Hypogonadism, Lethargy, Decreased serum testosterone concentration, Failure to th... OMIM:201100
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Thrombocytopenia ORPHA:858
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... ORPHA:314478
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Pancytopenia, Craniosynostosis, Thrombocytopenia, ... OMIM:259700
Spinocerebellar Ataxia 48
Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai... OMIM:618093
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Unsteady gait, Falls, Gait imbalance, Loss of ambulation, Short stepp... ORPHA:240094
Ectodermal Dysplasia-Syndactyly Syndrome 2
Thin upper lip vermilion, Enamel hypoplasia, Cardiomegaly OMIM:613576
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... ORPHA:227510
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Br... ORPHA:521406
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... OMIM:614831
Bangstad Syndrome
Ataxia, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased cir... ORPHA:1227
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom... OMIM:259710
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Hypoplastic spleen, Patent foramen ovale, Microretrognathia ORPHA:89844
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait... ORPHA:216873
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... OMIM:611302
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:98933
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Distal sensory impairment, Gait ataxia, Steppage gait OMIM:618387
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Inability to walk, Rigidity, Dysmetria,... OMIM:618090
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... ORPHA:3130
Polyendocrine-Polyneuropathy Syndrome
Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ataxia, Abnormal p... ORPHA:453533
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... ORPHA:90650
Spermatogenic Failure 14
Male infertility, Abnormal prolactin level, Azoospermia, Abnormal circulating testosterone concen... OMIM:615842
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... ORPHA:457083
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene... ORPHA:53
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Syngap1-Related Developmental And Epileptic Encephalopathy
Hypospadias, Ataxia, Tremor, Poor coordination, Gait disturbance, Abnormality of pain sensation ORPHA:544254
Müllerian Aplasia And Hyperandrogenism
Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnorm... ORPHA:247768
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Adrenal hyperplasia, Male pseudohermaphroditism, Jaundice, Macroorchidism,... ORPHA:90790
Spinocerebellar Ataxia Type 42
Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, U... ORPHA:458803
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Tremor, Cryptorchidism, Cerebellar hypoplasia, ... OMIM:620327
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Wolfram Syndrome 1
Diabetes mellitus, Diabetes insipidus, Ataxia, Tremor, Hypothyroidism, Testicular atrophy OMIM:222300
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Spinocerebellar Ataxia 21
Cerebellar atrophy, Ataxia, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia OMIM:607454
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ataxia, Central hypothyroidism, Cer... OMIM:616113
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Waddling gait, Diabetes mellitus, Small for gestational age, Oligozoospermia, Clitoral hypoplasia... OMIM:614813
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation OMIM:617916
Isolated Thyroid-Stimulating Hormone Deficiency
Pituitary hypothyroidism, Macroglossia, Prolonged neonatal jaundice, Macroorchidism, Thyroid hypo... ORPHA:90674
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Pri... OMIM:603903
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Gait a... OMIM:615157
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myocl... OMIM:619028
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa... ORPHA:77259
Spinocerebellar Ataxia Type 8
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Rigidity, Unste... ORPHA:98760
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Osteopetrosis, Anemia OMIM:615085
Ataxia-Telangiectasia
Diabetes mellitus, Female hypogonadism, Ataxia, Dystonia, Tremor, Inability to walk, Slurred spee... OMIM:208900
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Hypogonadism, Abnorma... ORPHA:85450
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor... ORPHA:79263
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Short stepped shuffling gait ORPHA:391411
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Cerebellar atrophy, Impaired distal proprioception, Tremor, Abnormal cerebellum m... ORPHA:137898
Microphthalmia, Isolated 4
Absent testis OMIM:613094
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Autoimmune Hypoparathyroidism
Increased bone mineral density, Confusion ORPHA:36913
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Delayed patellar ossification, Increased bone mineral density, Wide anterior fontanel, Abnormal b... ORPHA:163649
Myotonic Dystrophy 2
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... OMIM:602668
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Splenomegaly, Leuko... ORPHA:77297
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Diastrophic Dysplasia
Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness ORPHA:628
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Apr... OMIM:617810
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Hypergonadotropic hypogonadism, Ataxia, Tremor, Myoclonus, Loss of ambulation... OMIM:607426
Bardet-Biedl Syndrome 1
Diabetes mellitus, Ataxia, Nephrogenic diabetes insipidus, Poor coordination, Abnormality of the ... OMIM:209900
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Thrombocytopenia ORPHA:1237
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Coarse metaphysea... ORPHA:1782
Trisomy X
Tremor, Secondary amenorrhea ORPHA:3375
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Acrofacial Dysostosis, Catania Type
Carious teeth, Cryptorchidism, Hypospadias OMIM:101805
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... ORPHA:240103
Parkinson Disease 17
Akinesia OMIM:614203
Myopathy, Mitochondrial, And Ataxia
Hyperthyroidism, Ataxia, Tremor, Inability to walk, Primary amenorrhea, Dysmetria, Limb ataxia, D... OMIM:617675
Congenital Bile Acid Synthesis Defect Type 4
Ataxia, Tremor, Hypogonadism, Type II diabetes mellitus, Cholelithiasis ORPHA:79095
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy... ORPHA:139485
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... OMIM:614856
Spinocerebellar Ataxia, Autosomal Recessive 21
Impaired pain sensation, Tremor, Limb ataxia, Distal sensory impairment, Gait ataxia, Paresthesia... OMIM:616719
48,Xxxy Syndrome
Hypoplasia of penis, Small scrotum, Tremor, Cryptorchidism, Obesity, Azoospermia, Hypogonadism, I... ORPHA:96263
49,Xxxyy Syndrome
Mandibular prognathia, External genital hypoplasia, Abnormality of the testis size, Micrognathia,... ORPHA:261534
Spinocerebellar Ataxia 42
Spastic ataxia, Cerebellar atrophy, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... OMIM:616795
Microphthalmia, Syndromic 9
Truncus arteriosus, Ventricular septal defect, Micrognathia, Cryptorchidism, Hypoplastic left atr... OMIM:601186
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, Chiari type I malformation, Dystonia OMIM:617836
Carney Complex
Hepatocellular carcinoma, Leydig cell neoplasia, Abnormal sperm motility, Ovarian serous cystaden... ORPHA:1359
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... ORPHA:85188
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Weight loss, Infertility, Erect... ORPHA:465508
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... ORPHA:2791
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Behr Syndrome
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Babinski sign, Dysmetria, Gait disturbance, Pr... OMIM:210000
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Cleft palate, Small pituitary gland, Micropenis, Decreased te... OMIM:614880
Aspartylglucosaminuria
Mandibular prognathia, Hepatomegaly, Abnormality of the dentition, Carious teeth, Splenomegaly, G... ORPHA:93
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Gapo Syndrome
Amenorrhea, Hypogonadism, Dysmenorrhea, Oligozoospermia ORPHA:2067
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Cerebellar atrophy, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal ... ORPHA:397946
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Wide anterior fontanel, Increased bone mineral density, Thin bony cortex ORPHA:85184
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Osteopetrosis, Anemia OMIM:612840
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom... OMIM:256550
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, H... OMIM:617435
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Attrv30M Amyloidosis
Cardiomyopathy, Impotence, Cardiomegaly ORPHA:85447
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Congenital Myopathy 8
High palate, Cardiomegaly OMIM:618654
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive OMIM:616494
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Distal sensory... OMIM:302800
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Rigidity, Tremor, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... ORPHA:314632
Tricho-Dento-Osseous Syndrome
Increased bone mineral density, Periapical tooth abscess ORPHA:3352
Spondyloepiphyseal Dysplasia Tarda
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... ORPHA:93284
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Thick vermilion b... OMIM:300280
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Proteus-Like Syndrome
Mandibular prognathia, Thymus hyperplasia, Open bite, Splenomegaly, Abnormality of the parathyroi... ORPHA:2969
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Somatic sensory dysfunction, Hyperthyroidism, Tremor, Primary amenorrhea, Dysmetria, Progressive ... ORPHA:502423
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis OMIM:617306
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Poor motor coordination, Tremor, Dysmetria,... ORPHA:1170
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Micrognathia, Cardiomegaly, Narrow palate, Macroglos... OMIM:617022
Familial Atrial Myxoma
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditis ORPHA:615
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Mandibular prognathia, Eclabion, Thin upper lip vermilion, Cleft soft palate, Precocious puberty,... OMIM:619950
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Oculom... OMIM:208920
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Osteopetrosis, C... OMIM:618476
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Broad-based gait, Cachexia, Tremor, Obesity, Hypogonadism, Decreased testicu... ORPHA:85293
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Hypospadias, Ataxia, Bilateral cryptorchidism, Cryptorchidism, Tremor, Gait ataxia, Central hypot... OMIM:300998
49,Xxxxy Syndrome
Hypoplasia of penis, Small scrotum, Tremor, Cryptorchidism, Azoospermia, Hypogonadism, Infertilit... ORPHA:96264
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Ankyloglossia, Micropenis OMIM:602361
Tay-Sachs Disease
Cerebellar atrophy, Exaggerated startle response, Incoordination, Dystonia, Precocious puberty, I... ORPHA:845
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Trem... ORPHA:454887
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Akinesia OMIM:300894
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, H... OMIM:602782
Lesch-Nyhan Syndrome
Opisthotonus, Choreoathetosis, Abnormality of extrapyramidal motor function, Dystonia, Spasticity... OMIM:300322
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Small for gestational age, Hypospadias, Ataxia, Tremor, Cryptorchidism, Failure to thrive, Intent... OMIM:614052
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemiparesis, Impotence, Positiv... OMIM:105210
Mirage Syndrome
Hypospadias, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Leukopenia, Microp... OMIM:617053
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Carious teeth, Splenomegaly, Jaundice, Exocrine pa... OMIM:612714
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Congenital Disorder Of Glycosylation, Type Ij
Tremor, Cryptorchidism, Hypertonia OMIM:608093
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Small for gestational age, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia,... OMIM:261640
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Dysmetria, Distal sensory ... OMIM:616505
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis ORPHA:329284
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar atrophy, Dilated fourth ventricle, Premature ovarian insufficiency, Ataxia, Hypergonad... OMIM:212065
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Cln5 Disease
Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady ... ORPHA:228360
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Dilated Cardiomyopathy With Ataxia
Lower limb spasticity, Hypoplasia of penis, Ataxia, Bilateral cryptorchidism, Perineal hypospadia... ORPHA:66634
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Osteopetrosis, Facial hyperostosis, Spina bifida occulta, Coarse ... ORPHA:2780
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... OMIM:112250
Mitochondrial Complex I Deficiency, Nuclear Type 28
Choreoathetosis, Cerebellar atrophy, Akinesia, Truncal ataxia OMIM:618249
Congenital Myopathy 9A
Akinesia OMIM:618822
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Osteoporosis OMIM:239000
Hypermanganesemia With Dystonia 2
Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babi... OMIM:617013
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait, Cerebellar cortical atrophy ORPHA:247234
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Leu... OMIM:259720
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Gaucher Disease Type 3
Increased bone mineral density, Pancytopenia, Splenomegaly, Osteolysis, Increased susceptibility ... ORPHA:77261
Central Precocious Puberty In Male
Pituitary microadenoma, Abnormality of the testis size, Precocious puberty in males ORPHA:649929
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Abnormality of the testis size, Hepat... ORPHA:400
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Freezing of gait, Akinesia OMIM:619911
Young-Onset Parkinson Disease
Tremor, Rigidity, Spasticity, Bradykinesia, Male sexual dysfunction, Gait imbalance, Dystonia, Fe... ORPHA:2828
Proximal 16P11.2 Microduplication Syndrome
Tremor, Micropenis, Failure to thrive, Decreased body mass index ORPHA:370079
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Short philtrum, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spas... OMIM:612438
Mogs-Cdg
Hepatomegaly, External genital hypoplasia, Cardiomegaly, Retrognathia, Hepatosplenomegaly, Hydroc... ORPHA:79330
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Small for gestational age, Diabetes mellitus, ... ORPHA:125
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Inability to walk, Head t... OMIM:312080
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Impotence, Olivopontocerebel... OMIM:146500
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia OMIM:614867
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Pseudo-Torch Syndrome 3
Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia OMIM:618886
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Macrovesicular hepatic steatosis, Cardiomegaly OMIM:600649
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... OMIM:619738
Attrv122I Amyloidosis
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... ORPHA:85451
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... ORPHA:3427
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Proteus Syndrome
Thymus hyperplasia, Abnormal dental enamel morphology, Testicular neoplasm, Enlarged polycystic o... ORPHA:744
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity, Dense calcificat... ORPHA:542310
Chromosome 18Q Deletion Syndrome
Broad-based gait, Hypospadias, Decreased response to growth hormone stimulation test, Failure to ... OMIM:601808
Distal Duplication 5Q
Ventricular septal defect, Dextrocardia, Hypospadias, Micrognathia, Carious teeth, Cryptorchidism... ORPHA:96097
Cockayne Syndrome Type 1
Lower limb spasticity, Ataxia, Tremor, Cryptorchidism, Gait disturbance, Difficulty walking, Male... ORPHA:90321
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Vestibular areflexia, Osteopetrosis, Thrombocytopenia ORPHA:3240
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Difficulty walking, Oc... ORPHA:529665
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Cardiomyopathy, Endocardial fibroel... OMIM:212140
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
Camurati-Engelmann Disease
Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long bone diaphyses,... OMIM:131300
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Hypospadias, Endometriosis, Abnormality of the dentition, Cariou... ORPHA:363444
Orofaciodigital Syndrome Type 6
Cerebellar vermis hypoplasia, Ataxia, Bilateral cryptorchidism, Tremor, Gait disturbance, Failure... ORPHA:2754
Meacham Syndrome
Hypoplasia of penis, Ambiguous genitalia, Ventricular septal defect, Situs inversus totalis, Abno... ORPHA:3097
Pycnodysostosis
Joint laxity, Increased bone mineral density, Generalized osteosclerosis, Increased susceptibilit... ORPHA:763
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial... ORPHA:96191
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly OMIM:618838
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
49,Xyyyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Micrognathia, Increased circulating ... ORPHA:99330
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium ORPHA:100924
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Thick lower lip vermilion, Gingival ov... OMIM:239850
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Weight loss, Bradykinesia, Gait ... OMIM:137440
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... OMIM:224300
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Dandy-Walker malformation, Cerebellar hypoplasia, Akinesia OMIM:225790
Tsh-Secreting Pituitary Adenoma
Tremor, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Period... ORPHA:91347
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... ORPHA:206443
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Everted upper lip vermilion, Cardiomegaly, Micrognathia, Splenomegaly, Hepatospleno... OMIM:608013
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost... OMIM:259730
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Gm1 Gangliosidosis
Generalized dystonia, Ataxia, Dystonia, Tremor, Unsteady gait, Weight loss, Abnormality of the sc... ORPHA:354
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Sandhoff Disease
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Macroglossia, Impotence OMIM:268800
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Cerebellar atrophy, Large for gestational age, Tremor, Hydrocele testis, Choreoathetosis, Spasticity OMIM:614080
Aspartylglucosaminuria
Hepatomegaly, Thick lower lip vermilion, Vacuolated lymphocytes, Hypoplastic frontal sinuses, Wid... OMIM:208400
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Cryptorchidism, Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Atrial sep... ORPHA:2728
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Ataxia With Vitamin E Deficiency
Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dy... ORPHA:96
Angelman Syndrome
Broad-based gait, Precocious puberty in females, Ataxia, Tremor, Inability to walk, Obesity, Myoc... ORPHA:72
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment ORPHA:309246
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density ORPHA:1798
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly ORPHA:99931
Timothy Syndrome
Thin upper lip vermilion, Ventricular septal defect, Cardiomegaly, Microdontia, Tetralogy of Fall... OMIM:601005
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Osteopetrosis OMIM:618541
Spinocerebellar Ataxia 8
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... OMIM:608768
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... OMIM:306955
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Werner Syndrome
Increased bone mineral density, Osteoporosis, Joint stiffness ORPHA:902
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypospadias, Cardiomegaly, Micrognathia, Cleft palate, Micropenis, Uni... OMIM:616897
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation OMIM:619405
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Gait ataxia, Choreo... OMIM:618877
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis ORPHA:94089
Perry Syndrome
Short stepped shuffling gait, Akinesia OMIM:168605
Desmosterolosis
Splenomegaly, Increased bone mineral density, Osteopetrosis ORPHA:35107
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Dandy-Walker malformation, Abnormal fallopian tube morphology ORPHA:722
Aceruloplasminemia
Torticollis, Diabetes mellitus, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Ri... ORPHA:48818
Alpha-N-Acetylgalactosaminidase Deficiency
Thick vermilion border, Cardiomegaly ORPHA:3137
Gabriele-De Vries Syndrome
Waddling gait, Tremor, Cryptorchidism, Tip-toe gait, Dystonia OMIM:617557
Fetal Akinesia Deformation Sequence
Dandy-Walker malformation, Akinesia ORPHA:994
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Cerebellar vermis atrophy, ... OMIM:617988
Manganese Poisoning
Gait disturbance, Akinesia ORPHA:306682
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... ORPHA:99750
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Poems Syndrome
Sclerosis of hand bone, Sclerosis of foot bone, Sclerosis of skull base, Thrombocytosis, Polycyth... ORPHA:2905
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Micrognathia OMIM:619036
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Dental crowding, Cardio... OMIM:300967
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614702
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Increased mitochondrial number, Dysmetria OMIM:615578
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Micrognathia, Intrahepatic cholestasis, Di... OMIM:614921
Classic Progressive Supranuclear Palsy Syndrome
Falls, Gait imbalance, Akinesia ORPHA:240071
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism, Small for gestational age OMIM:227650
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Increa... ORPHA:33364
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk,... OMIM:128100
Alexander Disease
Diabetes mellitus, Ataxia, Clonus, Precocious puberty, Tremor, Chorea, Abnormal pyramidal sign, T... ORPHA:58
Pseudohypoparathyroidism Type 1C
Ectopic ossification, Increased bone mineral density, Confusion ORPHA:79444
Oslam Syndrome
Carious teeth, Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Cerebellar atrophy, Dystonia, Tremor, Chorea, Impaired distal vibration sensation, Impaired propr... OMIM:606002
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
12Q14 Microdeletion Syndrome
Abnormality of the spleen, Osteopoikilosis ORPHA:94063
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Cardiomegaly, Hepatocellular necrosis, Periportal fibrosis, Hypertrophic cardiomyop... OMIM:201475
Pseudohypoparathyroidism Type 1A
Increased bone mineral density, Confusion, Reduced bone mineral density, Hyperostosis frontalis i... ORPHA:79443
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Involuntary movements, Cryptorchidism, Inability to walk, Unsteady gait, Abnormality... ORPHA:3063
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, Precocious puberty, Tremor, Spasticity, Choreoathetosis, Myoclonus, Dystonia,... ORPHA:1934
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Ataxia, Parkins... OMIM:614298
Schwartz-Jampel Syndrome
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Shoulder flexion ... ORPHA:800
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... OMIM:602481
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly, High palate, Long philtrum, Open mouth OMIM:618798
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly, Cryptorchidism, Deep philtrum, Gingival overgrowth, Macroglossia, Wid... OMIM:618143
Gaucher Disease
Osteopenia, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recurrent fractures, Joi... ORPHA:355
Coccidioidomycosis
Abnormality of the male genitalia, Abnormal sperm morphology, Abnormality of the female genitalia... ORPHA:228123
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal... OMIM:618056
Cockayne Syndrome A
Cerebellar atrophy, Ataxia, Tremor, Cryptorchidism, Irregular menstruation, Thymic hormone decrea... OMIM:216400
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Tooth absces... ORPHA:89936
Pearson Syndrome
Hypoparathyroidism, Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Decreased r... ORPHA:699
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl... ORPHA:2658
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Camptodactyly of finger, Tarsal synostosis, Carpal synostosis, Ab... ORPHA:90652
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hepatic steatosis, Cardiomegaly ORPHA:42
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Kenny-Caffey Syndrome, Type 2
Increased bone mineral density, Thickened cortex of long bones, Anemia OMIM:127000
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Osteolysis, Anemia ORPHA:35687
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hepatic steatosis, Cardiomegaly OMIM:255120
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Abnormal synaptic transmission, Bradykinesia, Blepharospasm, Fal... ORPHA:683
Fucosidosis
Hepatomegaly, Abnormality of the dentition, Abnormality of the gallbladder, Cardiomegaly ORPHA:349
Congenital Myopathy 12
Akinesia OMIM:612540
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... OMIM:618278
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Raine Syndrome
Arthrogryposis multiplex congenita, Increased bone mineral density, Subperiosteal bone formation OMIM:259775
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Beckwith-Wiedemann Syndrome
Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla... OMIM:130650
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia OMIM:616840
Tetrasomy 9P
Absent gallbladder, Cryptorchidism, Oligozoospermia, Infertility, Micropenis, Dandy-Walker malfor... ORPHA:3310
Sclerosteosis 1
Cognitive impairment, Facial palsy secondary to cranial hyperostosis, Cortically dense long tubul... OMIM:269500
Cockayne Syndrome B
Ataxia, Small for gestational age, Cerebellar calcifications, Tremor, Cryptorchidism, Severe fail... OMIM:133540
Fucosidosis
Hepatomegaly, Absent/hypoplastic paranasal sinuses, Cardiomegaly, Splenomegaly, Vacuolated lympho... OMIM:230000
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density OMIM:259900
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:617713
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Abnormal thymus morphology, High palate, Narrow mouth, Malar flattening, Broad phil... ORPHA:2463
Autosomal Dominant Progressive External Ophthalmoplegia
Cerebellar atrophy, Resting tremor, Hyperthyroidism, Ataxia, Diabetes mellitus, Tremor, Rigidity,... ORPHA:254892
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left ventricular hypert... ORPHA:57777
Postencephalitic Parkinsonism
Akinesia ORPHA:97349
Glycogen Storage Disease Ii
Hepatomegaly, Splenomegaly, Macroglossia, Cardiomegaly OMIM:232300
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Ogden Syndrome
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato... OMIM:300855
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Deep philtrum, Cardiomegaly OMIM:613320
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Desmosterolosis
Generalized osteosclerosis, Joint contracture of the hand, Arthrogryposis multiplex congenita OMIM:602398
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Akinesia OMIM:619147
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Natal tooth, Cleft palate, Cardiomegaly ORPHA:158687
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints ORPHA:50945
Refsum Disease, Classic
Cardiomyopathy, Cardiomegaly OMIM:266500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Waddling gait, Cerebellar atrophy, Speech apraxia, Dystonia, Ataxia, Tremor, Inability to walk, C... OMIM:615356
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Lipid accumulation in hepatocytes, Hepatic ca... OMIM:608836
Cantú Syndrome
Abnormal heart valve morphology, Cardiomegaly, Wide mouth, Thick vermilion border, Long philtrum,... ORPHA:1517
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... OMIM:613280
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Cardiomegaly, Macroglossia, Left ventricular hypertrophy, Difficulty in tongue move... ORPHA:308552
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Microretrognathia, Bicuspid aortic valve, Cardiomegaly, Micrognathia, Narrow mouth, Cleft palate,... OMIM:245600
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Abnormal cerebellum morphology, Babinski sign, Impaired vibration sensation in the lower ... ORPHA:447753
Sanjad-Sakati Syndrome
Patchy osteosclerosis ORPHA:2323
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T4 conce... OMIM:613239
African Trypanosomiasis
Tremor, Impaired proprioception, Choreoathetosis, Abnormal central motor function, Paralysis, Abn... ORPHA:3385
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Abnormal trabecular bone morphology, Osteopetrosis, Anemia OMIM:612301
Mucopolysaccharidosis Type 3
Hepatomegaly, Craniofacial hyperostosis, Cardiomegaly, Adenoiditis, Splenomegaly, Abnormality of ... ORPHA:581
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Bohring-Opitz Syndrome
Micrognathia, Cardiomegaly, Cleft lip, Cleft palate, Abnormal cardiac septum morphology, Cholelit... ORPHA:97297
Cleidocranial Dysplasia 1
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... OMIM:119600
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Beckwith-Wiedemann Syndrome
Mandibular prognathia, Hepatomegaly, Cardiomegaly, Splenomegaly, Cryptorchidism, Abnormal pancrea... ORPHA:116
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Micrognathia, Leukopenia, Lymphocytosis, Elevated hepatic iron... OMIM:619991
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Cardiomegaly, Micrognathia, Splenomegaly, Gingival overgrowth, Wide mouth, Macroglo... OMIM:252500
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, High, narrow palate, Hepatic calcification, Cardiomyopathy, Abnormal ... ORPHA:228308
Bosma Arhinia Microphthalmia Syndrome
Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Cleft lip... OMIM:603457
Atypical Werner Syndrome
Sclerosis of hand bone, Increased bone mineral density, Limitation of joint mobility, Osteoporosi... ORPHA:79474
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Increased hepatic glycogen content, Cardiomegaly OMIM:619259
Hereditary Late-Onset Parkinson Disease
Shuffling gait, Akinesia ORPHA:411602
Gabriele-De Vries Syndrome
Waddling gait, Small for gestational age, Decreased response to growth hormone stimulation test, ... ORPHA:506358
Yunis-Varon Syndrome
Ventricular septal defect, Hypospadias, Premature loss of primary teeth, Cardiomegaly, Micrognath... ORPHA:3472
Arterial Calcification, Generalized, Of Infancy, 2
Right atrial enlargement, Cardiomegaly OMIM:614473
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms OMIM:244400
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... OMIM:300257
Primary Hyperoxaluria
Generalized osteosclerosis, Recurrent fractures ORPHA:416
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Hashimoto thyr... ORPHA:99413
Turner Syndrome
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Hashimoto thyr... ORPHA:881
Mosaic Monosomy X
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Hashimoto thyr... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Hashimoto thyr... ORPHA:99226
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Cardiomegaly OMIM:620306
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Dpagt1-Cdg
Ataxia, Akinesia, Inability to walk, Abnormal cerebellum morphology, Cerebellar hypoplasia ORPHA:86309
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Craniosynostosis, Splenomegaly, Reduced bone mineral density, Osteopetrosis,... ORPHA:667
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Parotitis, Microcytic anemia, Cardiomegaly, Splenomegaly, Epididymitis, Irregular m... OMIM:256040
Supranuclear Palsy, Progressive, 2
Falls, Gait imbalance, Akinesia OMIM:609454
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Tremor, Wide penis, Chiari type I malforma... ORPHA:3455
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Cerebellar vermis hypoplasia, Ataxia, Hypospadias, Small for gestational age, Dystonia, Tremor, D... OMIM:220111
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Recurrent fractures, Thrombocytopenia, Leukopenia, Elliptocytosis, Osteopetrosis, A... ORPHA:2785
Arthrogryposis Multiplex Congenita 5
Akinesia OMIM:618947
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cleft palate, Polycystic ovaries ORPHA:137675
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb... OMIM:615530
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Micrognathia, Microdontia, Atrial septa... ORPHA:904
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature... ORPHA:1677
Noonan Syndrome 1
Male infertility, Hypospadias, Failure to thrive in infancy, Cryptorchidism, Hypogonadism OMIM:163950
Anterior Cutaneous Nerve Entrapment Syndrome
Leukocytosis, Allodynia ORPHA:51890
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... OMIM:234200
Abetalipoproteinemia
Hepatomegaly, Reticulocytosis, Cardiomegaly, Acanthocytosis, Hepatic fibrosis, Cirrhosis, Hepatic... ORPHA:14
Supranuclear Palsy, Progressive, 1
Falls, Gait imbalance, Akinesia OMIM:601104
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Cardiomegaly, Chronic lymphatic leukemia, Hepatosplenomegal... ORPHA:51
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Thick vermilion border, Lip telangiectasia, Cardiomegaly ORPHA:79280
Cystinosis, Nephropathic
Male infertility, Diabetes mellitus, Failure to thrive in infancy, Weight loss, Primary hypothyro... OMIM:219800
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega... ORPHA:75565
Familial Thoracic Aortic Aneurysm And Aortic Dissection
High, narrow palate, Retrognathia, Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Singleton-Merten Syndrome 1
Thin upper lip vermilion, Mitral valve calcification, Hypoplasia of the tooth germ, Cardiomegaly,... OMIM:182250
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:980
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Cardiomegaly, Macroglossia, Left ventricular hypertrophy, Difficulty in tongue move... ORPHA:365
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... ORPHA:353281
Schinzel-Giedion Midface Retraction Syndrome
Sclerosis of skull base, Increased density of long bones, Thickened cortex of long bones, Splenop... OMIM:269150
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Cystic Fibrosis
Male infertility, Failure to thrive OMIM:219700
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... ORPHA:353277
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Myocardial calcification, Hepatic ca... ORPHA:51608

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Camk4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Camk4.

No publications found that use IMPC mice or data for Camk4.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Camk4tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Camk4em1(IMPC)Ccpcz Exon Deletion Mice

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