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Gene: Sun1 MGI:1924303

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Gene Summary

Name:
Sad1 and UNC84 domain containing 1
Synonyms:
4632417G13Rik,  Unc84a,  5730434D03Rik

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
small testis Sun1tm1b(EUCOMM)Wtsi HOM Early adult 0.00
abnormal retina outer nuclear layer morphology Sun1tm1b(EUCOMM)Wtsi HOM Early adult 3.60×10-21
decreased startle reflex Sun1tm1b(EUCOMM)Wtsi HOM Early adult 3.28×10-13
decreased lymphocyte cell number Sun1tm1b(EUCOMM)Wtsi HOM Early adult 4.66×10-05
increased total body fat amount Sun1tm1b(EUCOMM)Wtsi HOM   Early adult 2.02×10-08
increased monocyte cell number Sun1tm1b(EUCOMM)Wtsi HOM   Early adult 8.93×10-06
increased neutrophil cell number Sun1tm1b(EUCOMM)Wtsi HOM Early adult 6.34×10-05
decreased prepulse inhibition Sun1tm1b(EUCOMM)Wtsi HOM Early adult 0.00
decreased total retina thickness Sun1tm1b(EUCOMM)Wtsi HOM Early adult 8.45×10-17
abnormal startle reflex Sun1tm1b(EUCOMM)Wtsi HOM Early adult 1.66×10-05
decreased circulating total protein level Sun1tm1b(EUCOMM)Wtsi HOM Early adult 6.77×10-05
increased circulating phosphate level Sun1tm1b(EUCOMM)Wtsi HOM Early adult 7.85×10-05
decreased lean body mass Sun1tm1b(EUCOMM)Wtsi HOM   Early adult 1.18×10-08
female infertility Sun1tm1b(EUCOMM)Wtsi HOM Early adult 0.00
increased leukocyte cell number Sun1tm1b(EUCOMM)Wtsi HOM Early adult 4.00×10-05
decreased locomotor activity Sun1tm1b(EUCOMM)Wtsi HOM Early adult 3.28×10-06
male infertility Sun1tm1b(EUCOMM)Wtsi HOM Early adult 0.00
decreased circulating serum albumin level Sun1tm1b(EUCOMM)Wtsi HOM Early adult 9.76×10-09
increased lymphocyte cell number Sun1tm1b(EUCOMM)Wtsi HOM Early adult 1.68×10-06
abnormal auditory brainstem response Sun1tm1b(EUCOMM)Wtsi HOM   Early adult 4.83×10-09
increased heart rate Sun1tm1b(EUCOMM)Wtsi HOM   Early adult 2.26×10-05
small superior vagus ganglion Sun1tm1b(EUCOMM)Wtsi 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 Whole Body Lateral Orientation

13 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

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Human diseases caused by Sun1 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 Sun1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... OMIM:617960
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... ORPHA:1646
Isochromosomy Yp
Primary gonadal insufficiency, Ambiguous genitalia, Decreased testicular size, Azoospermia, Male ... ORPHA:98797
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism OMIM:618110
Spermatogenic Failure 32
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:619831
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619937
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia OMIM:619108
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... ORPHA:98798
Spermatogenic Failure 12
Abnormal male germ cell morphology, Infertility, Azoospermia OMIM:615413
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Female infertility, Oocyte arrest at metaphase I, Polycystic ovaries, A... ORPHA:488191
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 70
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility OMIM:619828
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Abnormal spermatogenesis, Obstructive azoospermia, Decreased testicular size, Azoospermia, Increa... ORPHA:399805
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 63
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 35
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... OMIM:618341
Spinocerebellar Ataxia, X-Linked 2
Abnormality of extrapyramidal motor function, Ataxia OMIM:302600
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Hypogonadotropic hypogonadism, Ataxia ORPHA:1180
Oocyte/Zygote/Embryo Maturation Arrest 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Spermatogenic Failure 8
Oligospermia, Cryptozoospermia, Azoospermia OMIM:613957
Spermatogenic Failure 72
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... OMIM:619867
Spermatogenic Failure 34
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:618153
Spermatogenic Failure 33
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618152
Spermatogenic Failure 37
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618429
Spermatogenic Failure 18
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:617576
Spermatogenic Failure 46
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:619095
Spermatogenic Failure 27
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:617965
Spinocerebellar Ataxia 41
Gait ataxia, Cerebellar vermis atrophy, Ataxia, Cerebellar atrophy, Unsteady gait OMIM:616410
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 49
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Male Infertility Due To Acephalic Spermatozoa
Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia... ORPHA:529970
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy, Cerebral palsy, Broad-based gait, Dysdiadochokinesis OMIM:605388
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:301059
Posterior Column Ataxia
Impaired proprioception, Ataxia, Impaired vibratory sensation OMIM:176250
Spermatogenic Failure 65
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... OMIM:619712
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Spermatogenic Failure 40
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... OMIM:618664
Spermatogenic Failure 76
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:620084
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 56
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:619515
Oocyte/Zygote/Embryo Maturation Arrest 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Female infertility, Oocyte arrest at metaphase I OMIM:617743
Spermatogenic Failure 47
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:619102
Spermatogenic Failure 54
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... OMIM:619379
Spinocerebellar Ataxia Type 5
Cerebellar atrophy, Slurred speech, Gait disturbance, Incoordination ORPHA:98766
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spinocerebellar Ataxia 45
Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:617769
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Spermatogenic Failure 58
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... OMIM:619585
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... OMIM:618643
Spinocerebellar Ataxia Type 30
Gait ataxia, Cerebellar vermis atrophy, Limb ataxia ORPHA:211017
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Spermatogenic Failure 13
Azoospermia OMIM:615841
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:618670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Cerebellar dysplasia, Neural tube defect OMIM:615041
Spermatogenic Failure 42
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... OMIM:618745
Episodic Ataxia Type 5
Truncal ataxia, Ataxia ORPHA:211067
Spinocerebellar Ataxia Type 41
Gait ataxia, Cerebellar vermis atrophy ORPHA:458798
Spermatogenic Failure 7
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm OMIM:612997
Autosomal Recessive Spastic Paraplegia Type 32
Impaired vibration sensation in the lower limbs, Progressive spastic paraplegia, Cerebellar corti... ORPHA:171622
Spermatogenic Failure 75
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... OMIM:619949
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... ORPHA:399808
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Spermatogenic Failure 5
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head OMIM:243060
Atonic-Astatic Syndrome Of Foerster
Ataxia, Abasia, Inability to walk OMIM:209100
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Autosomal Spastic Paraplegia Type 30
Progressive spastic paraplegia, Somatic sensory dysfunction, Spastic gait, Ataxia, Babinski sign,... ORPHA:101010
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 64
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology OMIM:619696
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Truncal ataxia, Cerebellar atrophy, Inability to walk OMIM:615268
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Inability to walk, Spastic tetraplegia, Cerebellar hypoplasia, Ataxia, Pachygyria OMIM:618174
Hydrocephaly-Cerebellar Agenesis Syndrome
Cerebellar agenesis, Ataxia ORPHA:1397
Deafness-Infertility Syndrome
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... OMIM:611102
Spinocerebellar Ataxia, Autosomal Recessive 24
Gait ataxia, Cerebellar atrophy, Limb ataxia, Spastic gait OMIM:617133
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Spermatogenic Failure 16
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 44
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:619044
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Tremor, Cerebellar atrophy, Impaired vibratory sensation ORPHA:217012
Spermatogenic Failure 2
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... OMIM:108420
Spermatogenic Failure 77
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... OMIM:620103
Periventricular Nodular Heterotopia 8
Spasticity, Cerebellar vermis atrophy, Periventricular nodular heterotopia OMIM:618185
Spermatogenic Failure 17
Male infertility OMIM:617214
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Lissencephaly 1
Gray matter heterotopia, Cerebellar hypoplasia, Agyria, Lissencephaly, Spastic tetraparesis, Subc... OMIM:607432
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Male infertility, Obstructive azoospermia OMIM:301060
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... OMIM:616950
Spinocerebellar Ataxia 37
Ataxia, Tremor, Frequent falls, Cerebellar atrophy, Unsteady gait OMIM:615945
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Abnormal spermatogenesis, Gonadoblastoma, Ambiguou... ORPHA:261529
Spinocerebellar Ataxia Type 38
Gait ataxia, Somatic sensory dysfunction, Tremor, Difficulty walking, Cerebellar atrophy ORPHA:423296
Spinocerebellar Ataxia 31
Gait ataxia, Cerebellar atrophy, Limb ataxia, Ataxia OMIM:117210
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy, Inability to walk, Ataxia OMIM:619333
Spinocerebellar Ataxia 43
Gait ataxia, Cerebellar vermis atrophy, Rigidity, Limb ataxia, Ataxia, Tremor, Distal sensory imp... OMIM:617018
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Cerebellar hypoplasia OMIM:213000
Spermatogenic Failure 51
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:619177
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea OMIM:619245
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Impaired distal vibration sensation, Spasticity, Spastic gait, Ataxia, Babinski sign, Cerebellar ... OMIM:619742
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... ORPHA:98769
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Delayed puberty, Primary amenorrhea OMIM:300604
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... OMIM:229070
Spastic Paraplegia 72, Autosomal Recessive
Impaired vibration sensation in the lower limbs, Hoffmann sign, Spasticity, Tip-toe gait, Spastic... OMIM:615625
Spermatogenic Failure 28
Decreased testicular size, Decreased serum testosterone concentration, Male infertility, Elevated... OMIM:618086
Hyperprolactinemia
Female infertility, Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea OMIM:615555
Cerebellar Ataxia, Cayman Type
Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Broad-based gait, Intention tremor OMIM:601238
Cerebellar Ataxia, Cayman Type
Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Broad-based gait, Intention tremor, Nonprogre... ORPHA:94122
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Spinocerebellar Ataxia Type 23
Gait ataxia, Impaired distal vibration sensation, Limb ataxia, Babinski sign, Impaired propriocep... ORPHA:101108
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Spastic paraplegia, Periventricular nodular heterotopia, Inability to walk, Cerebellar hypoplasia OMIM:618572
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility OMIM:617996
Spastic Paraplegia 32, Autosomal Recessive
Ankle clonus, Spastic gait, Babinski sign, Spastic paraplegia, Difficulty walking, Lower limb spa... OMIM:611252
Microlissencephaly
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Hy... ORPHA:1083
Spinocerebellar Ataxia, Autosomal Recessive 25
Cerebellar hypoplasia, Truncal ataxia, Ataxia, Babinski sign, Dysmetria OMIM:617584
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Truncal ataxia, Cerebellar vermis atrophy, Limb ataxia, Difficulty walking ORPHA:363432
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
Spinocerebellar Ataxia 35
Pseudobulbar paralysis, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired propriocepti... OMIM:613908
Lissencephaly 3
Gray matter heterotopia, Spastic tetraplegia, Agyria, Cerebellar vermis hypoplasia, Lissencephaly... OMIM:611603
Chudley-Mccullough Syndrome
Gray matter heterotopia, Cerebellar dysplasia, Cerebellar hypoplasia, Hydrocephalus, Polymicrogyria OMIM:604213
Spinocerebellar Ataxia 40
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Intention tremor, Spastic paraparesis, Dys... OMIM:616053
Premature Ovarian Failure 10
Hypothyroidism, Premature ovarian insufficiency, Decreased testicular size, Azoospermia, Hypoplas... OMIM:612885
Spinocerebellar Ataxia, Autosomal Recessive 22
Abnormal pyramidal sign, Truncal ataxia, Ataxia, Dysmetria, Lower limb spasticity, Cerebellar atr... OMIM:616948
Lichtenstein-Knorr Syndrome
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor, Cerebellar atrophy OMIM:616291
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Spasticity, Cerebellar vermis atrophy, Progressive gait ataxia, Clumsiness, Babinski sign, Intent... ORPHA:284332
Spinocerebellar Ataxia 11
Gait ataxia, Gait imbalance, Truncal ataxia, Limb ataxia, Cerebellar atrophy, Progressive cerebel... OMIM:604432
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis OMIM:241100
Young Syndrome
Azoospermia OMIM:279000
Spermatogenic Failure 14
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... OMIM:615842
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Spastic tetraplegia, Cerebellar hypoplasia, Lissencephaly, Periventricular ribbonlike heterotopia... OMIM:618677
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased female libido,... ORPHA:52901
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Cerebellar atrophy, Intention tremor, Fascic... OMIM:613728
Dystonia With Cerebellar Atrophy
Cerebellar atrophy, Progressive cerebellar ataxia, Torticollis OMIM:611694
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Cerebellar vermis atrophy, Falls, Dysdiadochokinesis, Truncal ataxia... ORPHA:363710
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Epilepsy, Progressive Myoclonic, 11
Rigidity, Myoclonus, Ataxia, Cerebellar atrophy, Intention tremor, Cerebellar vermis hypoplasia OMIM:618876
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Simplified gyral pattern, Ataxia OMIM:613402
Episodic Ataxia, Type 8
Slurred speech, Episodic ataxia, Intention tremor, Ataxia OMIM:616055
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Ankle clonus, Cerebellar hypoplasia, Truncal ataxia, Limb ataxia, Babinski sign, Trem... OMIM:615768
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Limb ataxia, Ataxia, Babinski sign, Lower limb spasticity, Cerebellar atrophy OMIM:614322
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size ORPHA:393
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Spastic tetraplegia, Lissencephaly, Pachygyria, Hypertonia, Cerebellar atrophy, Polymicrogyria OMIM:618730
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Dysmetria, Tremor, Loss of ambulation, Cerebellar atrophy, Unsteady gait OMIM:617917
Spinocerebellar Ataxia, Autosomal Recessive 15
Gait ataxia, Unsteady gait, Cerebellar atrophy, Ataxia OMIM:615705
Spinocerebellar Ataxia Type 40
Gait ataxia, Dysdiadochokinesis, Intention tremor, Spastic paraparesis, Dysmetria, Pontocerebella... ORPHA:423275
Ceroid Lipofuscinosis, Neuronal, 11
Cerebellar atrophy, Ataxia OMIM:614706
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor, Cerebellar atrophy OMIM:607458
Spinocerebellar Ataxia, Autosomal Recessive 6
Gait ataxia, Spasticity, Clumsiness, Ataxia, Dysmetria, Cerebellar atrophy, Intention tremor OMIM:608029
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Myoclonus, Tremor, Ataxia OMIM:616187
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Cerebellar ataxia associated with quadrupedal gait, Gait ataxia, Dysdiadochokinesis, Cerebellar h... OMIM:224050
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Spinocerebellar Ataxia Type 35
Gait ataxia, Pseudobulbar paralysis, Torticollis, Limb ataxia, Babinski sign, Dysmetria, Difficul... ORPHA:276193
Premature Ovarian Failure 6
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Elevated circulating f... OMIM:612310
Spinocerebellar Ataxia 23
Impaired vibration sensation in the lower limbs, Gait ataxia, Limb ataxia, Babinski sign, Dysmetr... OMIM:610245
Spinocerebellar Ataxia 38
Gait ataxia, Cerebellar vermis atrophy, Myoclonus, Limb ataxia, Ataxia, Tremor OMIM:615957
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Abnormal spermatogenesis, Testicular microlithiasis, Secondary amenorrhea, Decreased circulating ... OMIM:228300
Spastic Paraplegia 30, Autosomal Dominant
Ankle clonus, Spastic gait, Ataxia, Spastic paraplegia, Babinski sign, Dysmetria, Lower limb spas... OMIM:610357
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... OMIM:614837
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Myoclonus, Ataxia OMIM:600143
Spermatogenic Failure, X-Linked, 4
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... OMIM:301077
Spinocerebellar Ataxia 46
Gait ataxia, Limb ataxia, Positive Romberg sign, Dysmetria, Cerebellar atrophy OMIM:617770
Androgen Insensitivity, Partial
Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro... OMIM:312300
Familial Male-Limited Precocious Puberty
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility ORPHA:3000
Premature Ovarian Failure 13
Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen... OMIM:617442
Morbid Obesity And Spermatogenic Failure
Oligospermia, Infertility, Azoospermia, Type II diabetes mellitus OMIM:615703
Dandy-Walker Syndrome
Dilated fourth ventricle, Truncal ataxia, Hydrocephalus, Partial absence of cerebellar vermis, Ag... OMIM:220200
Migraine, Familial Hemiplegic, 1
Hemiparesis, Ataxia, Hemiplegia, Tremor, Cerebellar atrophy OMIM:141500
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Periventricular heterotopia, Inability to walk, Cerebellar hypoplasia, Truncal ataxia, Oculomotor... OMIM:618273
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadoblastoma, Abnormality of peripheral nerve conduction, Abnormality of female external genita... ORPHA:168563
Spastic Ataxia 2, Autosomal Recessive
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... OMIM:611302
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar hypoplasia, Truncal ataxia, Clumsiness, Spastic dysarthria, Babinski sign, Intention t... ORPHA:314978
Neurodegeneration With Brain Iron Accumulation
Chorea, Spasticity, Rigidity, Abnormality of extrapyramidal motor function, Cerebellar atrophy ORPHA:385
Spastic Ataxia-Corneal Dystrophy Syndrome
Aplasia/Hypoplasia of the cerebellum, Spastic ataxia, Hemiplegia/hemiparesis, Gait disturbance, A... ORPHA:2572
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
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spinocerebellar Ataxia, X-Linked 1
Abnormality of extrapyramidal motor function, Ataxia, Action tremor, Cerebellar atrophy, Unsteady... OMIM:302500
Sodium-Dependent Multivitamin Transporter Deficiency
Spasticity, Cerebral palsy, Hypoplasia of the pons, Cerebellar atrophy, Polymicrogyria OMIM:618973
Spinocerebellar Ataxia, Autosomal Recessive 14
Gait ataxia, Spasticity, Dysdiadochokinesis, Dysmetria, Cerebellar atrophy, Unsteady gait, Intent... OMIM:615386
Spinocerebellar Ataxia Type 12
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Abnormal cerebe... ORPHA:98762
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Spinocerebellar Ataxia 4
Babinski sign, Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Progressive cerebel... OMIM:600223
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Cerebellar atrophy, Unsteady gait ORPHA:284271
Dentatorubral-Pallidoluysian Atrophy
Chorea, Parkinsonism, Atrophy of the dentate nucleus, Myoclonus, Choreoathetosis, Ataxia OMIM:125370
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Chorioretinal coloboma, Lymphopenia ORPHA:1116
Asherman Syndrome
Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c... ORPHA:137686
Spermatogenic Failure 24
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Microcephalic sperm head, Coile... OMIM:617959
Ataxia-Tapetoretinal Degeneration Syndrome
Aplasia/Hypoplasia of the cerebellum, Gait disturbance, Ataxia ORPHA:1178
Joubert Syndrome 13
Pachygyria, Cerebellar vermis hypoplasia OMIM:614173
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... OMIM:614897
Spinocerebellar Ataxia 26
Gait ataxia, Truncal ataxia, Limb ataxia, Incoordination, Cerebellar atrophy OMIM:609306
Spinocerebellar Ataxia, Autosomal Recessive 26
Gait ataxia, Impaired distal vibration sensation, Dysdiadochokinesis, Oculomotor apraxia, Limb at... OMIM:617633
Spinocerebellar Ataxia Type 26
Somatic sensory dysfunction, Truncal ataxia, Progressive gait ataxia, Paralysis, Limb ataxia, Bab... ORPHA:101112
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormality of neuronal migration, Ataxia OMIM:618709
Epilepsy, Progressive Myoclonic, 8
Falls, Truncal ataxia, Myoclonus, Choreoathetosis, Limb ataxia, Gait disturbance, Cerebellar atro... OMIM:616230
Kennedy Disease
Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus ORPHA:481
Spinocerebellar Ataxia, Autosomal Recessive 8
Gait ataxia, Spasticity, Limb ataxia, Ataxia, Dysmetria, Cerebellar atrophy OMIM:610743
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Ataxia, ... OMIM:267700
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Abnormal cerebellum morphology, Parkinsonism, Abnormality of extrapyramidal motor function, Myocl... OMIM:162350
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea OMIM:602390
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Gray matter heterotopia, Cerebellar hypoplasia, Hydrocephalus, Type II lissencephaly, Dysgyria, O... ORPHA:352682
Spastic Paraplegia, Ataxia, And Mental Retardation
Impaired vibration sensation in the lower limbs, Ankle clonus, Spastic gait, Ataxia, Spastic para... OMIM:607565
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Progressive gait ataxia, Oculomotor apraxia, Clumsiness, Limb ataxia, Babinski s... ORPHA:284324
Spinocerebellar Ataxia, Autosomal Recessive 17
Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Oculomotor apraxia, Clumsiness, Limb ataxia, ... OMIM:616127
Spinocerebellar Ataxia 49
Dysdiadochokinesis, Abnormality of extrapyramidal motor function, Ataxia, Babinski sign, Dysmetri... OMIM:619806
Spinocerebellar Ataxia Type 20
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... ORPHA:101110
Perrault Syndrome 6
Irregular menstruation, Sensorineural hearing impairment, Secondary amenorrhea, Premature ovarian... OMIM:617565
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Cerebellar atrophy, Progressive cerebellar ataxia OMIM:618412
Myoclonus, Familial, 1
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus OMIM:614937
Joubert Syndrome 24
Spasticity, Cerebellar hypoplasia, Gait disturbance, Ataxia, Dysmetria, Pachygyria, Polymicrogyria OMIM:616654
Mast Syndrome
Dysdiadochokinesis, Apraxia, Gait disturbance, Incoordination, Babinski sign, Spastic paraplegia,... OMIM:248900
Refractory Celiac Disease
Weight loss, Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportio... ORPHA:398063
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Menorrhagia, Oligomenorrhea, Amenorrhea ORPHA:397685
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Parkinsonism, Dysmetria, Head tremor, Action tremor, Cerebellar atrophy, Prog... OMIM:604326
Spinocerebellar Ataxia 27B, Late-Onset
Gait ataxia, Cerebellar atrophy, Limb ataxia, Postural tremor OMIM:620174
Spinocerebellar Ataxia, Autosomal Recessive 18
Gait ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Truncal ataxia, Oculomotor apraxia, I... OMIM:616204
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Gray matter heterotopia, Spastic tetraplegia, Agyria, Lissencephaly, Subcortical band heterotopia... OMIM:615411
Spinocerebellar Ataxia Type 14
Gait ataxia, Somatic sensory dysfunction, Cerebellar vermis atrophy, Rigidity, Myoclonus, Limb at... ORPHA:98763
Ovarian Dysgenesis 2
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hypergonadotropic hypogon... OMIM:300510
Spinocerebellar Ataxia 44
Gait ataxia, Spasticity, Dysdiadochokinesis, Ataxia, Dysmetria, Frequent falls, Cerebellar atrophy OMIM:617691
Immunodeficiency 43
Reduced natural killer cell count, B lymphocytopenia, Lung abscess, Hypoproteinemia, Decreased ci... OMIM:241600
Ovarian Dysgenesis 3
Aplasia of the ovary, Female infertility, Delayed puberty, Elevated circulating luteinizing hormo... OMIM:614324
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar vermis atrophy, Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Cerebellar atrophy OMIM:614229
Spinocerebellar Ataxia 14
Gait ataxia, Impaired vibration sensation at ankles, Dysmetria, Cerebellar atrophy, Progressive c... OMIM:605361
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... ORPHA:90797
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Gait ataxia, Poor fine motor coordination, Cerebellar vermis atrophy, Intention tremor, Difficult... ORPHA:512260
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus ORPHA:2578
X-Linked Progressive Cerebellar Ataxia
Cerebellar vermis atrophy, Dysdiadochokinesis, Progressive gait ataxia, Clumsiness, Spastic dysar... ORPHA:1175
Spinocerebellar Ataxia 19
Gait ataxia, Postural tremor, Truncal ataxia, Myoclonus, Limb ataxia, Cogwheel rigidity, Cerebell... OMIM:607346
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Gait ataxia, Ataxia, Dysmetria, Tremor, Steppage gait, Cerebellar atrophy, Distal sensory impairment OMIM:618387
Hydrocephalus-Obesity-Hypogonadism Syndrome
Abnormality of the hypothalamus-pituitary axis, Azoospermia, Hypergonadotropic hypogonadism ORPHA:2183
Dengue Fever
Hypotension, Leukopenia, Cerebral hemorrhage, Epistaxis, Hypoproteinemia, Gastrointestinal hemorr... ORPHA:99828
Premature Ovarian Failure 5
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo... OMIM:611548
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Leukopenia, Anemia, Ataxia, Hepatosplenomegaly, Pancytopenia, Failure ... OMIM:603553
Spinocerebellar Ataxia 5
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Upper motor neuron dysfunction, Incoordination, Dys... OMIM:600224
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Clumsiness, Myoclonus, Ataxia, Dysmetria, Loss of ambulation, Limb tremor, Ce... OMIM:256731
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Spasticity, Agyria, Lissencephaly, Ataxia, Pachygyria OMIM:300067
Premature Ovarian Failure 20
Female infertility, Elevated circulating luteinizing hormone level, Elevated circulating follicle... OMIM:619938
Dystonia 23
Torticollis, Myoclonus, Gait disturbance, Head tremor, Cerebellar atrophy OMIM:614860
Testicular Regression Syndrome
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... ORPHA:983
Spinocerebellar Ataxia, Autosomal Recessive 2
Gait ataxia, Dilated fourth ventricle, Spasticity, Cerebellar vermis atrophy, Cerebellar hypoplas... OMIM:213200
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Monocyt... OMIM:614470
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Tip-toe gait, Cerebellar cyst, Difficulty walking, Frequent falls, Pachy... ORPHA:370980
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Spinocerebellar Ataxia 29
Gait ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Limb ataxia, Broad-based gait, Trunca... OMIM:117360
Spastic Paraplegia 85, Autosomal Recessive
Impaired tactile sensation, Torticollis, Upper limb spasticity, Spastic paraplegia, Babinski sign... OMIM:619686
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Ataxia, Impaired tandem gait, Dysmetria, Tremor, Lower limb spasticity, Cerebellar atr... OMIM:619028
Spastic Paraplegia 78, Autosomal Recessive
Gait ataxia, Abnormal pyramidal sign, Falls, Spastic tetraplegia, Resting tremor, Parkinsonism, I... OMIM:617225
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Lissencephaly 5
Cerebellar hemisphere hypoplasia, Gray matter heterotopia, Hydrocephalus, Spastic paraplegia, Typ... OMIM:615191
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... ORPHA:251510
Spinocerebellar Ataxia Type 29
Gait ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Oculomotor apraxia, Ataxia, Dysmetria... ORPHA:208513
Chédiak-Higashi Syndrome
Inability to walk, Hepatosplenomegaly, Hyponatremia, Thrombocytopenia, Abnormal leukocyte morphol... ORPHA:167
Trimethylaminuria
Anemia, Hypertension, Tachycardia, Neutropenia, Splenomegaly OMIM:602079
Adrenal Hypoplasia, Congenital
Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir... OMIM:300200
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Spasticity, Dysdiadochokinesis, Truncal ataxia, Progressive gait ataxia, Dysmetria, Slurred speec... ORPHA:352403
Neuroleptic Malignant Syndrome
Hypotension, Abnormal autonomic nervous system physiology, Elevated circulating creatine kinase c... ORPHA:94093
Pontocerebellar Hypoplasia, Type 2D
Chorea, Cerebellar vermis atrophy, Spastic tetraplegia, Appendicular spasticity, Clonus, Cerebell... OMIM:613811
Huntington Disease
Gait ataxia, Chorea, Rigidity, Cerebellar atrophy, Bradykinesia OMIM:143100
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebellar atrophy, Distal sensory impairment, Steppage gait, Ataxia OMIM:607250
Normosmic Congenital Hypogonadotropic Hypogonadism
Impotence, Camptodactyly, Congenital sensorineural hearing impairment, Primary amenorrhea, Hypopl... ORPHA:432
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Spasticity, Choreoathetosis, Positive Romberg sign, Ataxia, Babinski sign, Dysmetria, Loss of amb... OMIM:618088
Spinocerebellar Ataxia Type 2
Gait ataxia, Chorea, Postural tremor, Parkinsonism, Abnormal cortical gyration, Cerebellar Purkin... ORPHA:98756
Spinocerebellar Ataxia 15
Gait ataxia, Postural tremor, Truncal ataxia, Limb ataxia, Action tremor, Cerebellar atrophy OMIM:606658
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Small for gestational age, Obesity, Dilated cardiomy... ORPHA:26793
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Gait ataxia, Chorea, Cerebellar vermis atrophy, Inability to walk, Ataxia, Dysmetria OMIM:618501
Polymicrogyria, Bilateral Frontoparietal
Ankle clonus, Perisylvian polymicrogyria, Cerebellar hypoplasia, Truncal ataxia, Babinski sign, H... OMIM:606854
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
Ovarian Dysgenesis 9
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... OMIM:619665
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Gray matter heterotopia, Cerebellar dysplasia, Oculomotor apraxia, Cere... OMIM:615960
Autoinflammation With Infantile Enterocolitis
Anemia, Reduced natural killer cell count, Pancytopenia, Diffuse alveolar hemorrhage, Failure to ... OMIM:616050
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait ataxia, Inability to walk, Rigidity, Gait disturbance, Dysmetria, Tremor, Cerebellar atrophy... OMIM:618090
Ovarian Dysgenesis 10
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated cir... OMIM:619834
Perrault Syndrome 3
Sensorineural hearing impairment, Elevated circulating follicle stimulating hormone level, Elevat... OMIM:614129
Primary Intestinal Lymphangiectasia
Anemia, Reduced proportion of CD4+ effector memory T cells, Weight loss, Lymphopenia, Hypoprotein... ORPHA:90362
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Spina bifida, Hydrocepha... ORPHA:945
Perrault Syndrome 2
Streak ovary, Sensorineural hearing impairment, Amenorrhea OMIM:614926
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... OMIM:308700
Spinocerebellar Ataxia, Autosomal Recessive 13
Gait ataxia, Retrocerebellar cyst, Dilated fourth ventricle, Abnormal pyramidal sign, Dysdiadocho... OMIM:614831
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Cerebellar hypoplasia, Truncal ataxia, Atrophy of the dentate nucleus, Dysmet... OMIM:610185
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxia, Limb ataxia, Gait d... OMIM:617145
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased serum testost... OMIM:614841
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Calf muscle hypertrophy, Testicular atrophy, Tremor, Limb muscle weakness OMIM:313200
Spinocerebellar Ataxia Type 19/22
Impaired vibration sensation at ankles, Truncal ataxia, Poor coordination, Limb ataxia, Ataxia, S... ORPHA:98772
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
Urocanase Deficiency
Gait ataxia, Truncal ataxia, Ataxia, Dysmetria, Action tremor, Broad-based gait OMIM:276880
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Impaired vibration sensation in the lower limbs, Cerebellar vermis atrophy, Spastic dysarthria, A... ORPHA:94124
Gordon Holmes Syndrome
Chorea, Cerebellar atrophy, Ataxia OMIM:212840
Immunodeficiency 15B
Monocytosis, Failure to thrive, Reduced natural killer cell count OMIM:615592
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Vasculitis, Pancytopenia, Thrombocytopenia, Hemophagocytosis, Elevated circulating... OMIM:308240
Autoimmune Hypoparathyroidism
Autoimmune hypoparathyroidism, Hypocalcemic tetany, Hyperphosphatemia, Ventricular arrhythmia, Ab... ORPHA:36913
Citrullinemia Type Ii
Hypertriglyceridemia, Acute hyperammonemia, Tremor, Hypoproteinemia, Decreased body mass index, H... ORPHA:247585
Spinocerebellar Ataxia 42
Impaired vibration sensation at ankles, Loss of Purkinje cells in the cerebellar vermis, Spastic ... OMIM:616795
Alg6-Cdg
Rod-cone dystrophy, Decreased LDL cholesterol concentration, Retinal degeneration, Ataxia, Pubert... ORPHA:79320
Spinocerebellar Ataxia 50
Chorea, Cerebellar vermis atrophy, Postural tremor, Apraxia, Myoclonus, Ataxia, Head tremor, Acti... OMIM:620158
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Bradykinesia, Gait disturbance, Dysdiadochokinesis ORPHA:228169
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Failure to thrive, Eosinophilia, Impaired oxidative burst, T... OMIM:226990
Focal Segmental Glomerulosclerosis 1
Anemia, Hypertension, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Spastic Paraplegia 39, Autosomal Recessive
Progressive spastic paraplegia, Gait disturbance, Ataxia, Babinski sign, Cerebellar atrophy OMIM:612020
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Abnormality of the uterus, Delayed puberty, Male infertility, Male pse... ORPHA:754
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Parkinsonism, Rigidity, Apraxia, Gait disturbance, Babinski sign, Impaired tan... OMIM:300423
Premature Ovarian Failure 18
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... OMIM:619203
46,Xx Gonadal Dysgenesis
Decreased fertility, Ambiguous genitalia, Decreased serum estradiol, Secondary amenorrhea, Premat... ORPHA:243
Immunodeficiency 27A
Anemia, Weight loss, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Histiocytosis, Splenomegal... OMIM:209950
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Congenital hypoparathyroidism, Male infertility, Hypocalcemic seizures, Hypoca... ORPHA:2239
Developmental And Epileptic Encephalopathy 37
Chorea, Spasticity, Hyperkinetic movements, Rigidity, Myoclonus, Choreoathetosis, Gait disturbanc... OMIM:616981
Nephrotic Syndrome, Type 14
Hypothyroidism, Sensorineural hearing impairment, Hypogonadism, Adrenal insufficiency, Lymphopeni... OMIM:617575
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Sensorineural hearing impairment, Tachycardia OMIM:221400
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Gait ataxia, Spasticity, Abnormal pyramidal sign, Abnormal cerebellum morphology, Impaired tactil... ORPHA:98
Hypogonadism-Cataract Syndrome
Male hypogonadism, Infertility, Elevated circulating follicle stimulating hormone level, Hypogona... OMIM:240950
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Focal polymicrogyria, Ataxia, Subcortical band heterotopia, Cerebellar ... OMIM:615771
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Myocardial infarction, Abnormality of venous physiology, Leukocytos... ORPHA:90064
Polymicrogyria Due To Tubb2B Mutation
Gray matter heterotopia, Perisylvian polymicrogyria, Hemiparesis, Lissencephaly, Hypoplasia of th... ORPHA:300573
Immunodeficiency 14B, Autosomal Recessive
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis OMIM:619281
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Anemia, Hypothyroidism, Hypoproteinemia, Thrombocytosis, Iron deficiency anem... OMIM:226300
Spinocerebellar Ataxia 28
Gait ataxia, Somatic sensory dysfunction, Spasticity, Parkinsonism, Limb ataxia, Babinski sign, C... OMIM:610246
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Failure to thrive, Increased serum bile acid concentration, Hyperchole... OMIM:619868
Immunodeficiency 91 And Hyperinflammation
Pulmonary hemorrhage, Neutrophilia, Hepatosplenomegaly, Failure to thrive, Hemophagocytosis, Elev... OMIM:619644
Spinocerebellar Ataxia, Autosomal Recessive 32
Gait ataxia, Somatic sensory dysfunction, Limb myoclonus, Postural tremor, Torticollis, Limb atax... OMIM:619862
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Irregular menstruation, Hyperphosphatemia, Precocious puberty, Hyperthyroidism, Abnormal testis m... ORPHA:457059
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar dysplasia, Perisylvian polymicrogyria, Cerebellar vermis hypoplasia, Cerebellar hypopl... OMIM:616531
Perrault Syndrome 4
Primary amenorrhea, Decreased serum estradiol, Secondary amenorrhea, Premature ovarian insufficie... OMIM:615300
Juvenile Huntington Disease
Gait ataxia, Chorea, Cerebellar vermis atrophy, Rigidity, Myoclonus, Ataxia, Cerebellar atrophy, ... ORPHA:248111
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Elevated circula... OMIM:400045
Spinocerebellar Ataxia 13
Gait ataxia, Impaired distal vibration sensation, Spasticity, Abnormal pyramidal sign, Myoclonus,... OMIM:605259
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Decreas... OMIM:278850
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Failure to thrive, Severe B lymphocytopenia,... OMIM:603554
Congenital Disorder Of Glycosylation, Type Ij
Flexion contracture, Hypsarrhythmia, Hypoproteinemia, Tremor, Cryptorchidism OMIM:608093
Spinocerebellar Ataxia Type 27
Gait ataxia, Akinesia, Truncal ataxia, Limb ataxia, Gait disturbance, Hand tremor, Tremor, Diffic... ORPHA:98764
Joubert Syndrome 25
Oculomotor apraxia, Ataxia, Cerebellar hypoplasia OMIM:616781
Leukodystrophy, Hypomyelinating, 11
Spasticity, Myoclonus, Ataxia, Tremor, Cerebellar atrophy OMIM:616494
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Elevated circulating parathyroid hormone leve... ORPHA:94090
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration,... OMIM:145600
Pseudohypoparathyroidism, Type Ic
Hypothyroidism, Hypocalcemic tetany, Hyperphosphatemia, Elevated circulating thyroid-stimulating ... OMIM:612462
Spinocerebellar Ataxia, Autosomal Recessive 7
Gait ataxia, Postural tremor, Oculomotor apraxia, Clumsiness, Limb ataxia, Ataxia, Babinski sign,... OMIM:609270
Autosomal Recessive Spastic Paraplegia Type 39
Gait ataxia, Babinski sign, Spastic paraplegia, Lower limb spasticity, Cerebellar atrophy ORPHA:139480
Obesity Due To Congenital Leptin Deficiency
Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, Decreased serum estradiol... ORPHA:66628
Ménétrier Disease
Weight loss, Hypochromic microcytic anemia, Hypoproteinemia, Gastrointestinal hemorrhage, Hypoalb... ORPHA:2494
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia ORPHA:2688
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Cerebellar atrophy, Difficulty walking, Ataxia OMIM:619425
Ataxia-Pancytopenia Syndrome
Impaired vibration sensation in the lower limbs, Ankle clonus, Ataxia, Babinski sign, Dysmetria, ... OMIM:159550
Premature Ovarian Failure 8
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula... OMIM:615723
Primary Membranoproliferative Glomerulonephritis
Myocardial infarction, Drusen, Hypertension, Hypoalbuminemia ORPHA:54370
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
47,Xyy Syndrome
Macroorchidism, Increased serum testosterone level, Azoospermia, Oligospermia, Hypospadias, Male ... ORPHA:8
Leishmaniasis
Leukopenia, Anemia, Weight loss, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, ... ORPHA:507
Lissencephaly 6 With Microcephaly
Spasticity, Periventricular heterotopia, Limb hypertonia, Simplified gyral pattern, Lissencephaly... OMIM:616212
Boucher-Neuhauser Syndrome
Gait ataxia, Spasticity, Ataxia, Spinocerebellar atrophy, Cerebellar atrophy, Abnormal upper moto... OMIM:215470
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Reduced systolic function, Failure to thrive in infancy, Broad-based gait... OMIM:618805
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Spasticity, Agyria, Pachygyria ORPHA:1084
Spinocerebellar Ataxia 48
Gait ataxia, Chorea, Parkinsonism, Ataxia, Babinski sign, Dysmetria, Tremor, Cerebellar atrophy OMIM:618093
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Leukopenia, Acute myeloid leukemia, Refractory anemia OMIM:616871
Obesity Due To Leptin Receptor Gene Deficiency
Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, Decreased serum estradiol... ORPHA:179494
Episodic Ataxia Type 6
Cerebellar atrophy, Slurred speech, Ataxia, Hemiplegia ORPHA:209967
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
Hypergonadotropic hypogonadism, Ataxia ORPHA:88637
Spinocerebellar Ataxia, Autosomal Recessive 27
Gait ataxia, Spasticity, Spastic ataxia, Gait imbalance, Torticollis, Gait disturbance, Frequent ... OMIM:618369
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Gait ataxia, Inability to walk, Cerebellar atrophy, Ataxia OMIM:617915
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Increased C-peptide level, Hyperinsulinemia, Decreased circulating free fatty acid level, Syncope... ORPHA:276575
Hypogonadotropic Hypogonadism 25 With Anosmia
Primary amenorrhea, Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone defici... OMIM:618841
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis ORPHA:242
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon... OMIM:615724
Combined Oxidative Phosphorylation Deficiency 54
Sensorineural hearing impairment, Optic disc pallor, Retrobulbar optic neuritis, Tremor, Hypergon... OMIM:619737
Spinocerebellar Ataxia 17
Gait ataxia, Chorea, Parkinsonism, Rigidity, Apraxia, Myoclonus, Limb ataxia, Ataxia, Positive Ro... OMIM:607136
Spinocerebellar Ataxia, Autosomal Recessive 30
Titubation, Ataxia, Dysmetria, Tremor, Cerebellar atrophy, Unsteady gait OMIM:619405
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Failure to thrive, Increased circulating creatine kinase MM isoform, Hypoalbu... OMIM:613752
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Gait ataxia, Truncal ataxia, Limb ataxia, Ataxia, Elevated circulating creatine kinase concentrat... OMIM:208920
Spinocerebellar Ataxia 34
Gait ataxia, Spasticity, Abnormal pyramidal sign, Dysdiadochokinesis, Limb ataxia, Ataxia, Cerebe... OMIM:133190
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, De... ORPHA:280679
Maternal Uniparental Disomy Of Chromosome X
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, Azoo... ORPHA:261519
48,Xyyy Syndrome
Male hypogonadism, Primary gonadal insufficiency, Azoospermia ORPHA:99329
Spinocerebellar Ataxia Type 17
Chorea, Spasticity, Blepharospasm, Abnormal pyramidal sign, Parkinsonism, Rigidity, Torticollis, ... ORPHA:98759
Behr Syndrome
Cerebellar vermis atrophy, Progressive spasticity, Truncal ataxia, Gait disturbance, Ataxia, Babi... OMIM:210000
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Anemia, Congestive heart failure, Dilated cardiomyopathy, Elevated circulating creatine kinase co... OMIM:615895
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Spasticity, Abnormal pyramidal sign, Truncal ataxia, Torticollis, Limb ataxia, Head titubation, C... OMIM:617560
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Decreased circulating parathyroid hormone level, Hypocalcemic se... OMIM:618883
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Gait ataxia, Dilated fourth ventricle, Spasticity, Cerebellar vermis atrophy, Oculomotor apraxia,... ORPHA:1170
Hyperinsulinism Due To Ucp2 Deficiency
Increased C-peptide level, Decreased circulating free fatty acid level, Syncope, Large for gestat... ORPHA:276556
Ciliary Dyskinesia, Primary, 40
Infertility, Absent outer dynein arms, Azoospermia OMIM:618300
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Cellulitis, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Mono... ORPHA:486
Aicardi-Goutieres Syndrome 2
Lymphocytosis, Dystonia OMIM:610181
Hemochromatosis, Type 1
Impotence, Azoospermia, Testicular atrophy, Diabetes mellitus, Hypogonadotropic hypogonadism, Ame... OMIM:235200
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,... ORPHA:90791
Analbuminemia
Hypotension, Elevated circulating transferrin concentration, Lipodystrophy, Increased LDL cholest... OMIM:616000
Episodic Ataxia, Type 6
Cerebellar hypoplasia, Truncal ataxia, Hemiparesis, Episodic ataxia, Hemiplegia, Slurred speech, ... OMIM:612656
Spastic Ataxia 3, Autosomal Recessive
Gait ataxia, Spasticity, Cerebellar vermis atrophy, Spastic ataxia, Ataxia, Dysmetria, Loss of am... OMIM:611390
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hypo... OMIM:603233
Eosinophilic Gastroenteritis
Anemia, Weight loss, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinop... ORPHA:2070
Leber Congenital Amaurosis
Aplasia/Hypoplasia of the cerebellar vermis, Hemiplegia/hemiparesis, Encephalocele, Abnormality o... ORPHA:65
Johanson-Blizzard Syndrome
Anemia, Sensorineural hearing impairment, Hypoplasia of penis, Failure to thrive, Diabetes mellit... ORPHA:2315
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Retinal hemorrhage, Abnormal ... ORPHA:86839
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Increased C-peptide level, Hyperinsulinemia, Syncope, Maternal diabetes, Large for gestational ag... ORPHA:276580
Hyperinsulinism Due To Hnf1A Deficiency
Increased C-peptide level, Hyperinsulinemia, Small for gestational age, Decreased circulating fre... ORPHA:324575
Sub-Cortical Nodular Heterotopia
Spasticity, Subcortical heterotopia, Abnormality of neuronal migration, Polymicrogyria ORPHA:101029
Pseudohypoparathyroidism, Type Ia
Hypothyroidism, Hypocalcemic tetany, Hyperphosphatemia, Enamel hypoplasia, Hypogonadism, Elevated... OMIM:103580
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Retinopathy, Sensorineural hearing impairment, Hyperuricemia, Angioid streaks ... OMIM:239000
Pseudohypoparathyroidism, Type Ii
Elevated circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemia, Pseudohypoparath... OMIM:203330
Congenital Analbuminemia
Low pulse pressure, Small for gestational age, Increased alpha-globulin, Lipodystrophy, Hypoprote... ORPHA:86816
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Ring Chromosome 21 Syndrome
Diabetes insipidus, Infertility, Azoospermia, Amenorrhea ORPHA:1445
Genetic Recurrent Myoglobinuria
Hyperphosphatemia, Highly elevated creatine kinase, Fatigable weakness of swallowing muscles, Hyp... ORPHA:99845
Leber Hereditary Optic Neuropathy
Optic atrophy, Postural tremor, Retinal vascular tortuosity, Ataxia, Retinal telangiectasia, Arrh... ORPHA:104
Spinocerebellar Ataxia Type 18
Gait ataxia, Somatic sensory dysfunction, Titubation, Dysmetria, Head tremor, Cerebellar atrophy ORPHA:98771
Nephrotic Syndrome, Type 1
Hypothyroidism, Small for gestational age, Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Joubert Syndrome 30
Cerebellar atrophy, Superior cerebellar dysplasia, Gray matter heterotopia, Dandy-Walker malforma... OMIM:617622
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cerebellar dysplasia, Cerebellar hypoplasia, Simplified gyral pattern, Cerebellar cyst, Hydroceph... OMIM:613153
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Impotence, Small pituitary gland, Increased circulating gonadotropin level, Primary amenorrhea, H... ORPHA:2232
Hemochromatosis, Type 3
Anemia, Impotence, Elevated transferrin saturation, Lymphopenia, Increased circulating ferritin c... OMIM:604250
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... OMIM:609129
Enterokinase Deficiency
Failure to thrive, Hypoproteinemia OMIM:226200
Bilateral Frontoparietal Polymicrogyria
Cerebellar dysplasia, Abnormal pyramidal sign, Abnormal cerebellum morphology, Gait imbalance, Hy... ORPHA:101070
49,Xyyyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, External genital hypoplasia, Decre... ORPHA:99330
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Periventricular heterotopia, Cerebellar hypoplasia, Simplified gyral pattern, Hypoplasia of the p... OMIM:616171
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Sensorineural hearing impairment, Centrally nucleated skeletal muscle fibers, Premature ovarian i... OMIM:619518
Ataxia-Oculomotor Apraxia 3
Oculomotor apraxia, Ataxia, Dysmetria, Frequent falls, Cerebellar atrophy, Distal sensory impairment OMIM:615217