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Gene: Sun1 MGI:1924303

Gene Summary

Name:

Sad1 and UNC84 domain containing 1

Synonyms:

4632417G13Rik, Unc84a, 5730434D03Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased heart rate	Sun1^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.26×10^-05
small testis	Sun1^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
abnormal retina outer nuclear layer morphology	Sun1^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	3.60×10^-21
decreased circulating serum albumin level	Sun1^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	9.76×10^-09
abnormal startle reflex	Sun1^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.66×10^-05
increased total body fat amount	Sun1^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.02×10^-08
increased lymphocyte cell number	Sun1^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.68×10^-06
increased leukocyte cell number	Sun1^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	4.00×10^-05
increased monocyte cell number	Sun1^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	8.93×10^-06
decreased locomotor activity	Sun1^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	3.28×10^-06
decreased lymphocyte cell number	Sun1^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	4.66×10^-05
decreased circulating total protein level	Sun1^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	6.77×10^-05
increased circulating phosphate level	Sun1^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	7.85×10^-05
small superior vagus ganglion	Sun1^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased lean body mass	Sun1^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.18×10^-08
abnormal auditory brainstem response	Sun1^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	4.83×10^-09
abnormal retina morphology	Sun1^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	9.20×10^-09
increased neutrophil cell number	Sun1^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	6.34×10^-05
male infertility	Sun1^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
female infertility	Sun1^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased prepulse inhibition	Sun1^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased total retina thickness	Sun1^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	8.45×10^-17
decreased startle reflex	Sun1^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	3.28×10^-13

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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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Immunophenotyping

Panel A FCS file(s)

6 Images

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Immunophenotyping

Panel B 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.

Human diseases associated with Sun1 (0 diseases)
Human diseases predicted to be associated with Sun1 (1347 diseases)

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	Matching phenotypes	Source
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi...	OMIM:619528
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility	OMIM:619145
Spermatogenic Failure 25	Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation...	OMIM:617960
Partial Chromosome Y Deletion	Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal...	ORPHA:1646
Isochromosomy Yp	Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ...	ORPHA:98797
Spermatogenic Failure 32	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:618115
Spermatogenic Failure 71	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:619831
Spermatogenic Failure 30	Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility	OMIM:618110
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619672
Spermatogenic Failure 88	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:620547
Spermatogenic Failure 73	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619878
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619646
Spermatogenic Failure 74	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619937
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility	OMIM:619108
Isochromosomy Yq	Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen...	ORPHA:98798
Spermatogenic Failure 12	Infertility, Azoospermia, Abnormal male germ cell morphology	OMIM:615413
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:619828
Spermatogenic Failure 22	Cryptozoospermia, Non-obstructive azoospermia, Male infertility	OMIM:617706
Spermatogenic Failure 29	Non-obstructive azoospermia, Immotile sperm, Male infertility	OMIM:618091
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Spermatogenic Failure 23	Azoospermia, Male infertility	OMIM:617707
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Spermatogenic Failure 63	Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia	OMIM:619689
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn...	ORPHA:399805
Spinocerebellar Ataxia, X-Linked 2	Ataxia, Abnormality of extrapyramidal motor function	OMIM:302600
Spermatogenic Failure 35	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe...	OMIM:618341
Spermatogenic Failure 20	Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:617593
Spastic Paraplegia 72B, Autosomal Recessive	Spasticity, Difficulty walking, Gait ataxia, Babinski sign, Spastic gait	OMIM:620606
Spermatogenic Failure 72	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe...	OMIM:619867
Spermatogenic Failure 34	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A...	OMIM:618153
Spermatogenic Failure 33	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618152
Spermatogenic Failure 37	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618429
Spermatogenic Failure 18	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:617576
Spermatogenic Failure 46	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:619095
Spermatogenic Failure 27	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s...	OMIM:617965
Spermatogenic Failure, X-Linked, 5	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:301099
Spermatogenic Failure 8	Cryptozoospermia, Azoospermia, Oligozoospermia	OMIM:613957
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in...	OMIM:618751
Spermatogenic Failure 19	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:617592
Spermatogenic Failure 82	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility...	OMIM:620353
Spermatogenic Failure 49	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619094
Young Syndrome	Obstructive azoospermia, Decreased fertility	ORPHA:3471
Spinocerebellar Ataxia 41	Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait	OMIM:616410
Spermatogenic Failure 84	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe...	OMIM:620409
Spermatogenic Failure 65	Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph...	OMIM:619712
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I	ORPHA:488191
Spermatogenic Failure, X-Linked, 3	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs...	OMIM:301059
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome	Hypogonadotropic hypogonadism, Ataxia	ORPHA:1180
Spermatogenic Failure 56	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:619515
Cerebral Palsy, Ataxic, Autosomal Recessive	Broad-based gait, Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy	OMIM:605388
Posterior Column Ataxia	Impaired vibratory sensation, Impaired proprioception, Ataxia	OMIM:176250
Spermatogenic Failure 40	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C...	OMIM:618664
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,...	OMIM:620222
Spermatogenic Failure 76	Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs...	OMIM:620084
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti...	OMIM:620354
Spermatogenic Failure 47	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility	OMIM:619102
Spermatogenic Failure 58	Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl...	OMIM:619585
Spermatogenic Failure 54	Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol...	OMIM:619379
Spermatogenic Failure 79	Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia	OMIM:620196
Spinocerebellar Ataxia Type 5	Incoordination, Gait disturbance, Cerebellar atrophy, Slurred speech	ORPHA:98766
Spermatogenic Failure 78	Microcephalic sperm head, Tapered sperm head, Male infertility	OMIM:620170
Spermatogenic Failure 1	Cryptozoospermia, Male infertility, Oligozoospermia	OMIM:258150
Spermatogenic Failure 39	Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f...	OMIM:618643
Spinocerebellar Ataxia 45	Gait ataxia, Limb ataxia, Cerebellar atrophy	OMIM:617769
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:614822
Ataxia-Oculomotor Apraxia Type 1	Gait disturbance, Ataxia	ORPHA:1168
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Spinocerebellar Ataxia Type 30	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia	ORPHA:211017
Oocyte/Zygote/Embryo Maturation Arrest 14	Female infertility, Oocyte maturation arrest	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Female infertility, Lack of oocyte pronucleus formation	OMIM:617996
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:612997
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Spermatogenic Failure 41	Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility	OMIM:618670
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Male hypogonadism, Azoospermia	OMIM:241000
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili...	ORPHA:529970
Spermatogenic Failure 42	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce...	OMIM:618745
Episodic Ataxia Type 5	Truncal ataxia, Ataxia	ORPHA:211067
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Cerebellar ataxia associated with quadrupedal gait, Truncal ataxia, Cerebellar atrophy, Inability...	OMIM:615268
Oocyte/Zygote/Embryo Maturation Arrest 21	Female infertility	OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Spinocerebellar Ataxia Type 41	Cerebellar vermis atrophy, Gait ataxia	ORPHA:458798
Autosomal Recessive Spastic Paraplegia Type 32	Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower lim...	ORPHA:171622
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Type II lissencephaly, Cerebellar dysplasia, Neural tube defect	OMIM:615041
Deleted in azoospermia	Azoospermia	OMIM:400003
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Oocyte/Zygote/Embryo Maturation Arrest 9	Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Atonic-Astatic Syndrome Of Foerster	Inability to walk, Abasia, Ataxia	OMIM:209100
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility	ORPHA:276183
Spermatogenic Failure 5	Multiflagellar spermatozoa, Macrozoospermia, Male infertility	OMIM:243060
Periventricular Nodular Heterotopia 8	Cerebellar vermis atrophy, Periventricular nodular heterotopia, Spasticity	OMIM:618185
Spermatogenic Failure 64	Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe...	OMIM:619696
Autosomal Spastic Paraplegia Type 30	Diffuse cerebellar atrophy, Somatic sensory dysfunction, Progressive spastic paraplegia, Distal s...	ORPHA:101010
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Immotile sperm, Male infertility	OMIM:608653
Hydrocephaly-Cerebellar Agenesis Syndrome	Cerebellar agenesis, Ataxia	ORPHA:1397
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
Spinocerebellar Ataxia, Autosomal Recessive 24	Spastic gait, Gait ataxia, Limb ataxia, Cerebellar atrophy	OMIM:617133
Spermatogenic Failure 75	Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert...	OMIM:619949
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis...	ORPHA:399808
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	Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Gait ataxia, Tremor	ORPHA:217012
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Spermatogenic Failure 87	Ruffled acrosome, Male infertility	OMIM:620500
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Spermatogenic Failure 77	Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor...	OMIM:620103
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction	Inability to walk, Cerebellar atrophy, Ataxia	OMIM:619333
Spermatogenic Failure 2	Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm...	OMIM:108420
Spermatogenic Failure, X-Linked, 6	Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph...	OMIM:301101
Spermatogenic Failure 86	Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma...	OMIM:620499
Spinocerebellar Ataxia 30	Cerebellar atrophy, Ataxia	OMIM:613371
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Lissencephaly 1	Pachygyria, Cerebellar hypoplasia, Gray matter heterotopia, Spastic tetraparesis, Agyria, Subcort...	OMIM:607432
Spinocerebellar Ataxia 37	Cerebellar atrophy, Tremor, Ataxia, Unsteady gait, Frequent falls	OMIM:615945
Spinocerebellar Ataxia Type 38	Cerebellar atrophy, Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor	ORPHA:423296
Spinocerebellar Ataxia 31	Gait ataxia, Limb ataxia, Cerebellar atrophy, Ataxia	OMIM:117210
Deafness-Infertility Syndrome	Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit...	OMIM:611102
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility, Spermatocele	OMIM:301060
Spermatogenic Failure 17	Male infertility	OMIM:617214
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I	Ataxia, Spasticity, Cerebellar atrophy, Chiari type I malformation, Babinski sign, Impaired dista...	OMIM:619742
Spinocerebellar Ataxia 43	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor,...	OMIM:617018
Spermatogenic Failure 51	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea...	OMIM:619177
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ...	ORPHA:261529
Spermatogenic Failure 44	Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size...	OMIM:619044
Ataxia-Deafness-Retardation Syndrome	Ataxia	OMIM:208850
Spermatogenic Failure 15	Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin...	OMIM:616950
Cerebellar Ataxia, Cayman Type	Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Nonprogressive cerebellar a...	ORPHA:94122
Premature Ovarian Failure 19	Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea	OMIM:619245
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Persistent Mullerian Duct Syndrome, Types I And Ii	Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism	OMIM:261550
Spinocerebellar Ataxia Type 15/16	Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ...	ORPHA:98769
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
Spastic Paraplegia 72A, Autosomal Dominant	Spastic paraplegia, Spasticity, Tip-toe gait, Impaired vibration sensation in the lower limbs, Ho...	OMIM:615625
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity	Cerebellar hypoplasia, Spastic paraplegia, Periventricular nodular heterotopia, Inability to walk	OMIM:618572
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Delayed puberty, Female infertility, Primary amenorrhea	OMIM:300604
Spermatogenic Failure 81	Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:620277
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Cerebellar hypoplasia, Tremor, Ataxia	OMIM:213000
Oocyte/Zygote/Embryo Maturation Arrest 8	Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level	OMIM:619009
Microlissencephaly	Cerebellar atrophy, Polymicrogyria, Periventricular heterotopia, Hypertonia, Pachygyria, Subcorti...	ORPHA:1083
Spermatogenic Failure 28	Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre...	OMIM:618086
Ataxia With Fasciculations	Ataxia, Fasciculations	OMIM:108700
Spinocerebellar Ataxia Type 23	Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Impaired dista...	ORPHA:101108
Hyperprolactinemia	Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration	OMIM:615555
Spastic Paraplegia 32, Autosomal Recessive	Spastic paraplegia, Cerebellar atrophy, Difficulty walking, Ankle clonus, Babinski sign, Lower li...	OMIM:611252
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency	Cerebellar vermis atrophy, Truncal ataxia, Limb ataxia, Difficulty walking	ORPHA:363432
Spinocerebellar Ataxia, Autosomal Recessive 25	Dysmetria, Cerebellar hypoplasia, Babinski sign, Ataxia, Truncal ataxia	OMIM:617584
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 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
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
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Spasticity, Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Difficulty walking, ...	ORPHA:284332
Lissencephaly 3	Cerebellar vermis hypoplasia, Polymicrogyria, Periventricular laminar heterotopia, Ataxia, Pachyg...	OMIM:611603
Spinocerebellar Ataxia 35	Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o...	OMIM:613908
Chudley-Mccullough Syndrome	Polymicrogyria, Cerebellar dysplasia, Cerebellar hypoplasia, Hydrocephalus, Gray matter heterotopia	OMIM:604213
Spinocerebellar Ataxia 40	Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Pontocerebellar ...	OMIM:616053
Spinocerebellar Ataxia Type 35	Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetr...	ORPHA:276193
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal at...	OMIM:616948
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas...	ORPHA:52901
Premature Ovarian Failure 10	Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypothyro...	OMIM:612885
Spinocerebellar Ataxia 11	Cerebellar atrophy, Limb ataxia, Gait ataxia, Gait imbalance, Truncal ataxia, Progressive cerebel...	OMIM:604432
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper...	OMIM:229070
Cortical Dysplasia, Complex, With Other Brain Malformations 10	Hypoplasia of the pons, Cerebellar hypoplasia, Hypertonia, Periventricular ribbonlike heterotopia...	OMIM:618677
Spermatogenic Failure 38	Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm...	OMIM:618433
Hypogonadism, Male	Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy	OMIM:241100
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility	ORPHA:48
Epilepsy, Progressive Myoclonic, 11	Cerebellar vermis hypoplasia, Cerebellar atrophy, Myoclonus, Rigidity, Ataxia, Intention tremor	OMIM:618876
Dystonia With Cerebellar Atrophy	Cerebellar atrophy, Torticollis, Progressive cerebellar ataxia	OMIM:611694
Spinocerebellar Ataxia, Autosomal Recessive 15	Gait ataxia, Unsteady gait, Cerebellar atrophy, Ataxia	OMIM:615705
Spermatogenic Failure, X-Linked, 7	Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper...	OMIM:301106
Spermatogenic Failure 14	Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho...	OMIM:615842
Spermatogenic Failure 85	Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi...	OMIM:620490
Spinocerebellar Ataxia Type 37	Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb d...	ORPHA:363710
Young Syndrome	Azoospermia	OMIM:279000
Microcephaly, Seizures, And Developmental Delay	Simplified gyral pattern, Cerebellar atrophy, Ataxia	OMIM:613402
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria...	OMIM:616291
Episodic Ataxia, Type 8	Ataxia, Slurred speech, Intention tremor, Episodic ataxia	OMIM:616055
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait	OMIM:617917
Spinocerebellar Ataxia, Autosomal Recessive 16	Spasticity, Cerebellar atrophy, Limb ataxia, Tremor, Ankle clonus, Cerebellar hypoplasia, Babinsk...	OMIM:615768
Ceroid Lipofuscinosis, Neuronal, 8	Myoclonus, Cerebellar atrophy, Loss of ambulation, Ataxia	OMIM:600143
Amyotrophic Lateral Sclerosis 3	Cerebellar atrophy	OMIM:606640
Spinocerebellar Ataxia, Autosomal Recessive 6	Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Intention tremor	OMIM:608029
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Azoospermia, Absent vas deferens, Male infertility	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Absent vas deferens, Male infertility	OMIM:277180
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Inferior cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Pachygyria, Gait ata...	OMIM:224050
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity	Cerebellar atrophy, Polymicrogyria, Hypertonia, Pachygyria, Spastic tetraplegia, Lissencephaly	OMIM:618730
Oocyte/Zygote/Embryo Maturation Arrest 17	Amenorrhea, Female infertility	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Amenorrhea, Female infertility	OMIM:620383
Ceroid Lipofuscinosis, Neuronal, 11	Cerebellar atrophy, Ataxia	OMIM:614706
Spinocerebellar Ataxia Type 40	Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Pontocerebellar ...	ORPHA:423275
Ciliary Dyskinesia, Primary, 50	Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm...	OMIM:620356
Epilepsy, Progressive Myoclonic 7	Myoclonus, Cerebellar atrophy, Tremor, Ataxia	OMIM:616187
Spinocerebellar Ataxia 18	Cerebellar atrophy, Tremor, Dysmetria, Progressive gait ataxia, Babinski sign, Dysdiadochokinesis	OMIM:607458
Spinocerebellar Ataxia, Autosomal Recessive 12	Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Babinski sig...	OMIM:614322
Spinocerebellar Ataxia 38	Cerebellar vermis atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Ataxia	OMIM:615957
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy...	OMIM:610245
Spinocerebellar Atrophy With Pupillary Paralysis	Spinocerebellar atrophy	OMIM:183100
Spermatogenic Failure 13	Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho...	OMIM:615841
Premature Ovarian Failure 22	Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in...	OMIM:620548
Migraine, Familial Hemiplegic, 1	Cerebellar atrophy, Hemiplegia, Tremor, Hemiparesis, Ataxia	OMIM:141500
Spastic Paraplegia 30, Autosomal Dominant	Spastic paraplegia, Cerebellar atrophy, Dysmetria, Ankle clonus, Babinski sign, Lower limb spasti...	OMIM:610357
46,Xx Testicular Difference Of Sex Development	Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries	ORPHA:393
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Absence of pubertal development, Azoospermia, Decreased testicular size, Cryptorchidism, Hypogona...	OMIM:614837
Premature Ovarian Failure 6	Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul...	OMIM:612310
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Cerebellar vermis hypoplasia, Inability to walk, Periventricular heterotopia, Cerebellar hypoplas...	OMIM:618273
Spermatogenic Failure 6	Decreased acrosin in sperm head, Globozoospermia, Male infertility	OMIM:102530
Spinocerebellar Ataxia 46	Cerebellar atrophy, Limb ataxia, Gait ataxia, Positive Romberg sign, Dysmetria	OMIM:617770
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le...	OMIM:228300
Spermatogenic Failure, X-Linked, 4	Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos...	OMIM:301077
Neurodevelopmental Disorder With Motor Regression, Progressive Spastic Paraplegia, And Oromotor Dysfunction	Spasticity, Gait disturbance, Cerebellar atrophy, Spastic tetraparesis	OMIM:620515
Tremor, Hereditary Essential, 6	Cerebellar atrophy, Postural tremor, Head tremor, Kinetic tremor, Vocal tremor	OMIM:618866
Androgen Insensitivity, Partial	Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi...	OMIM:312300
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia, Chorioretinal coloboma	ORPHA:1116
Spinocerebellar Ataxia, Autosomal Recessive 14	Spasticity, Cerebellar atrophy, Gait ataxia, Intention tremor, Dysmetria, Unsteady gait, Dysdiado...	OMIM:615386
Morbid Obesity And Spermatogenic Failure	Infertility, Azoospermia, Type II diabetes mellitus, Oligozoospermia	OMIM:615703
Familial Peripheral Male-Limited Precocious Puberty	Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility	ORPHA:3000
Spastic Ataxia-Corneal Dystrophy Syndrome	Hemiplegia/hemiparesis, Spastic ataxia, Aplasia/Hypoplasia of the cerebellum, Gait disturbance, A...	ORPHA:2572
Premature Ovarian Failure 13	Female infertility, Amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone...	OMIM:617442
Spinocerebellar Ataxia Type 26	Cerebellar atrophy, Limb ataxia, Progressive gait ataxia, Babinski sign, Truncal ataxia, Progress...	ORPHA:101112
Sodium-Dependent Multivitamin Transporter Deficiency	Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Cerebral palsy, Polymicrogyria	OMIM:618973
Spinocerebellar Ataxia, Autosomal Recessive 10	Cerebellar atrophy, Fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Truncal a...	OMIM:613728
Spinocerebellar Ataxia, X-Linked 1	Cerebellar atrophy, Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady...	OMIM:302500
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Bradykinesia, Postural tremor, Abnormal cerebellum morphology, Limb dysmetria...	ORPHA:98762
Tremor Of Intention, Ataxia, And Lipofuscinosis	Intention tremor, Ataxia	OMIM:190200
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Decreased serum estradiol, Male hypogonadism, Skeletal muscle atrophy, Abnormal vagina morphology...	ORPHA:168563
X-Linked Non Progressive Cerebellar Ataxia	Cerebellar vermis hypoplasia, Action tremor, Cerebellar hypoplasia, Clumsiness, Unsteady gait, Tr...	ORPHA:314978
Dentatorubral-Pallidoluysian Atrophy	Chorea, Myoclonus, Parkinsonism, Atrophy of the dentate nucleus, Ataxia, Choreoathetosis	OMIM:125370
Spinocerebellar Ataxia 4	Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Babinski sign, Progressive cerebel...	OMIM:600223
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
Spermatogenic Failure 24	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile...	OMIM:617959
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Cerebellar atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait	ORPHA:284271
Congenital Cerebellar Ataxia Due To Rnu12 Mutation	Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Difficulty walking, Gait ataxia,...	ORPHA:512260
Epilepsy, Progressive Myoclonic, 8	Falls, Cerebellar atrophy, Action myoclonus, Limb ataxia, Myoclonus, Gait disturbance, Truncal at...	OMIM:616230
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus, Partial absence of cerebellar vermis, Truncal ataxia, Ag...	OMIM:220200
Ataxia-Tapetoretinal Degeneration Syndrome	Aplasia/Hypoplasia of the cerebellum, Gait disturbance, Ataxia	ORPHA:1178
Nescav Syndrome	Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Inability to walk, Appendicular spasti...	OMIM:614255
Spinocerebellar Ataxia 12	Cerebellar atrophy, Head tremor, Action tremor, Dysmetria, Parkinsonism, Dysdiadochokinesis, Prog...	OMIM:604326
Joubert Syndrome 13	Pachygyria, Cerebellar vermis hypoplasia	OMIM:614173
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ...	OMIM:614897
Asherman Syndrome	Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O...	ORPHA:137686
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Difficulty walking, Postural ...	ORPHA:284324
Myoclonus, Familial, 1	Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls	OMIM:614937
Spinocerebellar Ataxia 26	Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia	OMIM:609306
Spinocerebellar Ataxia, Autosomal Recessive 26	Cerebellar atrophy, Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Oculomotor apraxi...	OMIM:617633
Spinocerebellar Ataxia, Autosomal Recessive 17	Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dys...	OMIM:616127
Joubert Syndrome 24	Spasticity, Polymicrogyria, Dysmetria, Cerebellar hypoplasia, Gait disturbance, Ataxia, Pachygyria	OMIM:616654
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Type II lissencephaly, Dysgyria, Cerebellar hypoplasia, Hydrocephalus, G...	ORPHA:352682
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine	Cerebellar atrophy, Progressive cerebellar ataxia	OMIM:618412
Spinocerebellar Ataxia 44	Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Ataxia, Frequent falls, Dysdiadochokinesis	OMIM:617691
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio...	OMIM:267700
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development	Spastic paraplegia, Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Ankle cl...	OMIM:607565
Hemochromatosis, Type 2A	Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea	OMIM:602390
Spinocerebellar Ataxia, Autosomal Recessive 18	Cerebellar atrophy, Cerebellar vermis atrophy, Incoordination, Gait ataxia, Dysmetria, Babinski s...	OMIM:616204
Spinocerebellar Ataxia Type 20	Upper limb postural tremor, Cerebellar atrophy, Bradykinesia, Gait ataxia, Abnormal pyramidal sig...	ORPHA:101110
Spinocerebellar Ataxia 49	Cerebellar atrophy, Dysmetria, Abnormality of extrapyramidal motor function, Loss of ambulation, ...	OMIM:619806
Kennedy Disease	Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction	ORPHA:481
Leukoencephalopathy With Dystonia And Motor Neuropathy	Azoospermia, Hypergonadotropic hypogonadism	OMIM:613724
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormality of neuronal migration, Hydrocephalus, Ataxia	OMIM:618709
Mast Syndrome	Spastic paraplegia, Spastic paraparesis, Cerebellar atrophy, Incoordination, Babinski sign, Aprax...	OMIM:248900
Cerebellar Ataxia, Cayman Type	Broad-based gait, Cerebellar atrophy, Gait ataxia, Cerebellar hypoplasia, Ataxia, Truncal ataxia,...	OMIM:601238
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Trem...	ORPHA:98763
Ciliary Dyskinesia, Primary, 51	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo...	OMIM:620438
Perrault Syndrome 6	Irregular menstruation, Streak ovary, Sensorineural hearing impairment, Primary amenorrhea, Prema...	OMIM:617565
Refractory Celiac Disease	Normocytic anemia, Hypoalbuminemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology...	ORPHA:398063
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Spastic tetraplegia, Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, L...	OMIM:615411
Spinocerebellar Ataxia 14	Cerebellar atrophy, Gait ataxia, Dysmetria, Impaired vibration sensation at ankles, Progressive c...	OMIM:605361
Spinocerebellar Ataxia 27B, Late-Onset	Gait ataxia, Postural tremor, Limb ataxia, Cerebellar atrophy	OMIM:620174
Myoclonus, Cerebellar Ataxia, And Deafness	Myoclonus, Ataxia	OMIM:159800
Spinocerebellar Ataxia, Autosomal Recessive 11	Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia	OMIM:614229
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ...	ORPHA:90797
Spinocerebellar Ataxia, Autosomal Recessive 29	Cerebellar atrophy, Cerebellar vermis atrophy, Inability to walk, Lower limb spasticity, Ataxia	OMIM:619389
Ataxia, Sensory, 1, Autosomal Dominant	Sensory ataxia, Abnormal cerebellum morphology, Positive Romberg sign, Gait ataxia, Babinski sign...	OMIM:608984
X-Linked Progressive Cerebellar Ataxia	Cerebellar vermis atrophy, Limb ataxia, Intention tremor, Dysmetria, Progressive gait ataxia, Bab...	ORPHA:1175
Spastic Ataxia 2, Autosomal Recessive	Spasticity, Cerebellar atrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Bab...	OMIM:611302
Ovarian Dysgenesis 3	Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Delayed...	OMIM:614324
Familial Hyperprolactinemia	Female hypogonadism, Hemorrhagic ovarian cyst, Amenorrhea, Oligomenorrhea, Infertility, Menorrhagia	ORPHA:397685
Ovarian Dysgenesis 2	Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of...	OMIM:300510
Spinocerebellar Ataxia 19	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Myoclonus, Trun...	OMIM:607346
Pseudohypoparathyroidism Type 2	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Laryngeal dystonia, Hypocalcem...	ORPHA:94090
Spinocerebellar Ataxia, Autosomal Recessive 2	Spasticity, Cerebellar vermis atrophy, Incoordination, Dilated fourth ventricle, Limb ataxia, Gai...	OMIM:213200
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus	ORPHA:2578
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Steppage gait, Ataxia	OMIM:618387
Immunodeficiency 43	Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le...	OMIM:241600
Spinocerebellar Ataxia 29	Diffuse cerebellar atrophy, Cerebellar vermis hypoplasia, Truncal titubation, Broad-based gait, C...	OMIM:117360
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism	ORPHA:2183
Premature Ovarian Failure 5	Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu...	OMIM:611548
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Myoclonus, Dysmetria, Loss of ambulation, Clumsiness, Limb tremor, Ataxia, Dy...	OMIM:256731
Spastic Paraplegia 78, Autosomal Recessive	Impaired vibratory sensation, Spastic paraplegia, Cerebellar atrophy, Resting tremor, Falls, Gait...	OMIM:617225
Dengue Fever	Epistaxis, Gastrointestinal hemorrhage, Hypotension, Leukopenia, Lethargy, Thrombocytopenia, Cere...	ORPHA:99828
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Cerebellar atrophy, Aplasia of the inferior half of the cerebellar vermis, Gait...	OMIM:610185
Lissencephaly, X-Linked, 1	Spasticity, Ataxia, Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly	OMIM:300067
Spinocerebellar Ataxia Type 29	Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Intention tremor, Dysmetria, Oculomot...	ORPHA:208513
Dystonia 23	Cerebellar atrophy, Head tremor, Myoclonus, Gait disturbance, Torticollis	OMIM:614860
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio...	OMIM:603553
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Gait ataxia, Dysmetria, Rigi...	OMIM:618090
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia	Spasticity, Cerebellar atrophy, Intention tremor, Dysmetria, Progressive gait ataxia, Truncal ata...	ORPHA:352403
Spinocerebellar Ataxia, Autosomal Recessive 13	Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Dilated fourth vent...	OMIM:614831
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Spasticity, Cerebellar atrophy, Positive Romberg sign, Dysmetria, Loss of ambulation, Babinski si...	OMIM:618088
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia, Lymphopenia	OMIM:152800
Lissencephaly 5	Cerebellar vermis hypoplasia, Spastic paraplegia, Occipital encephalocele, Type II lissencephaly,...	OMIM:615191
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Cerebellar Atrophy With Seizures And Variable Developmental Delay	Cerebellar vermis atrophy, Inability to walk, Chorea, Gait ataxia, Dysmetria, Ataxia	OMIM:618501
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo...	OMIM:614470
Premature Ovarian Failure 20	Elevated circulating luteinizing hormone level, Female infertility, Secondary amenorrhea, Elevate...	OMIM:619938
Spastic Paraplegia 85, Autosomal Recessive	Impaired vibratory sensation, Spastic paraplegia, Upper limb spasticity, Cerebellar atrophy, Impa...	OMIM:619686
Chédiak-Higashi Syndrome	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Ataxia, Hypoproteinemia, Inabili...	ORPHA:167
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Arrhythmia, Tachycardia, Hyperkalemia, Hypocalcemia, Abnormal autonomic nervou...	ORPHA:94093
Normosmic Congenital Hypogonadotropic Hypogonadism	Non-obstructive azoospermia, Absence of pubertal development, Cryptorchidism, Increased female li...	ORPHA:432
46,Xy Partial Gonadal Dysgenesis	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,...	ORPHA:251510
Pontocerebellar Hypoplasia, Type 2D	Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Appendicular spasticity, Clonus, Spastic t...	OMIM:613811
Huntington Disease	Cerebellar atrophy, Chorea, Gait ataxia, Rigidity, Bradykinesia	OMIM:143100
Adrenal Hypoplasia, Congenital	Precocious puberty, Absence of pubertal development, Adrenal insufficiency, Primary adrenal insuf...	OMIM:300200
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia	OMIM:207731
Poretti-Boltshauser Syndrome	Cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Oculomotor apraxia,...	OMIM:615960
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,...	ORPHA:983
Urocanase Deficiency	Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia	OMIM:276880
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Spinocerebellar Ataxia Type 2	Abnormal cortical gyration, Fasciculations, Chorea, Postural tremor, Gait ataxia, Parkinsonism, C...	ORPHA:98756
Alg6-Cdg	Hypoalbuminemia, Low-set ears, Failure to thrive, Puberty and gonadal disorders, Retinal degenera...	ORPHA:79320
Spinocerebellar Ataxia 5	Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Incoordination, Limb ataxia, ...	OMIM:600224
Trimethylaminuria	Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension	OMIM:602079
Spinocerebellar Ataxia 15	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia	OMIM:606658
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Elevated haptoglobin level, Abnormal circulating creatine kinase concentration, ...	OMIM:620632
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrioventricular block, Dilated cardiomyopathy, Increased circulating free fatty acid level, Obes...	ORPHA:26793
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Vasculitis, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopen...	OMIM:308240
46,Xx Sex Reversal 2	Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu...	OMIM:278850
Dystonia 22, Juvenile-Onset	Cerebellar atrophy, Intention tremor, Dysmetria, Lower limb spasticity, Torticollis, Dysdiadochok...	OMIM:620453
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Hypothalami...	OMIM:308700
Acalvaria	Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Spina bif...	ORPHA:945
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Spasticity, Cerebellar atrophy, Falls, Action tremor, Rigidity, Babinski sign, Parkinsonism, Impa...	OMIM:300423
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomo...	OMIM:617145
Ovarian Dysgenesis 9	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar...	OMIM:619665
Ovarian Dysgenesis 10	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas...	OMIM:619834
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m...	ORPHA:90362
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Pain insensitivity, Ataxia, Cerebellar vermis atrophy, Impaired vibration sensation in the lower ...	ORPHA:94124
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Cerebellar vermis hypoplasia, Focal polymicrogyria, Dilated fourth ventricle, Ataxia, Subcortical...	OMIM:615771
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal)	Broad-based gait, Hypoplasia of the pons, Dysmetria, Ankle clonus, Cerebellar hypoplasia, Babinsk...	OMIM:606854
Perrault Syndrome 2	Amenorrhea, Streak ovary, Sensorineural hearing impairment	OMIM:614926
Perrault Syndrome 3	Elevated circulating luteinizing hormone level, Streak ovary, Sensorineural hearing impairment, E...	OMIM:614129
Spinocerebellar Ataxia Type 19/22	Broad-based gait, Cerebellar atrophy, Difficulty walking, Limb ataxia, Cogwheel rigidity, Ataxia,...	ORPHA:98772
Gordon Holmes Syndrome	Chorea, Cerebellar atrophy, Ataxia	OMIM:212840
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Diffuse alveolar hemorrhage, Failure to thriv...	OMIM:616050
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Lower limb spasticity, At...	OMIM:619028
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test...	OMIM:614841
Autoimmune Hypoparathyroidism	Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Autoimmune hypoparathyroidism, Hypoca...	ORPHA:36913
Spinocerebellar Ataxia 42	Loss of Purkinje cells in the cerebellar vermis, Cerebellar atrophy, Tremor, Babinski sign, Spast...	OMIM:616795
Developmental And Epileptic Encephalopathy 37	Spasticity, Cerebellar atrophy, Chorea, Cogwheel rigidity, Myoclonus, Rigidity, Hyperkinetic move...	OMIM:616981
Autosomal Dominant Striatal Neurodegeneration	Bradykinesia, Gait disturbance, Dysdiadochokinesis, Rigidity	ORPHA:228169
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Decreased fertility, Limb muscle weakness, Tremor, Calf muscle hypertrophy, Testicular atrophy	OMIM:313200
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Ataxia, Impaired vibratory sensation, Cerebellar atrophy, Distal sensory impairment, Steppage gai...	OMIM:607250
Citrullinemia Type Ii	Hypoalbuminemia, Decreased body mass index, Decreased HDL cholesterol concentration, Delayed mena...	ORPHA:247585
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Difficulty walking, Cerebellar atrophy, Ataxia	OMIM:619425
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Joubert Syndrome 25	Cerebellar hypoplasia, Oculomotor apraxia, Ataxia	OMIM:616781
Spinocerebellar Ataxia 50	Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Postural tremor, Myoclonus, Action tremor,...	OMIM:620158
Immunodeficiency 15B	Reduced natural killer cell count, Failure to thrive, Monocytosis	OMIM:615592
Spastic Paraplegia 39, Autosomal Recessive	Cerebellar atrophy, Progressive spastic paraplegia, Babinski sign, Gait disturbance, Ataxia	OMIM:612020
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Cerebellar vermis hypoplasia, Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Diffi...	ORPHA:98
Spinocerebellar Ataxia 28	Spasticity, Cerebellar atrophy, Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Babinski s...	OMIM:610246
Premature Ovarian Failure 18	Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ...	OMIM:619203
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Pulmonary embolism, Budd-Chiari syndrome, Iron deficiency anemia, Hypothyroidism...	OMIM:226300
Immunodeficiency 32B	Hypoalbuminemia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocyt...	OMIM:226990
Immunodeficiency 27A	Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Thrombocytosis, Ane...	OMIM:209950
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Parathyroid agenesis, Congenital hypoparathyroid...	ORPHA:2239
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, ...	ORPHA:98764
Congenital Muscular Dystrophy Without Intellectual Disability	Cerebellar atrophy, Tip-toe gait, Difficulty walking, Gray matter heterotopia, Pachygyria, Cerebe...	ORPHA:370980
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia, Hypoproteinemia, Sensorineural hearing impairment	OMIM:221400
Spinocerebellar Ataxia, Autosomal Recessive 32	Cerebellar atrophy, Somatic sensory dysfunction, Limb myoclonus, Postural tremor, Limb ataxia, Ga...	OMIM:619862
46,Xx Gonadal Dysgenesis	Decreased serum estradiol, Hearing impairment, Aplasia/hypoplasia of the uterus, Gonadal dysgenes...	ORPHA:243
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis	OMIM:619281
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Hypoplasia of the pons, Polymicrogyria, Hemiparesis, Pachygyria, Gray matter ...	ORPHA:300573
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Perisylvian polymicrog...	OMIM:616531
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Pulmonary hemorrhage, Thro...	OMIM:619644
Spinocerebellar Ataxia 48	Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Ataxia	OMIM:618093
Reni Syndrome	Hypoalbuminemia, Ataxia, Hypogonadism, Lymphopenia, Adrenal insufficiency, Cryptorchidism, Sensor...	OMIM:617575
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Splenomegaly, Increased serum bile...	OMIM:619868
Juvenile Huntington Disease	Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Gait ataxia, Myoclonus, ...	ORPHA:248111
Spinocerebellar Ataxia 13	Spasticity, Cerebellar atrophy, Limb ataxia, Limb dysmetria, Gait ataxia, Myoclonus, Abnormal pyr...	OMIM:605259
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Dysmetria, Tremor, Loss of ambulation, Lower limb spasticity, Ataxia	OMIM:617916
Hypogonadism-Cataract Syndrome	Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l...	OMIM:240950
Leukodystrophy, Hypomyelinating, 11	Spasticity, Cerebellar atrophy, Myoclonus, Tremor, Ataxia	OMIM:616494
Acute Peripheral Arterial Occlusion	Abnormal capillary physiology, Supraventricular tachycardia, Leukocytosis, Abnormality of venous ...	ORPHA:90064
Perrault Syndrome 4	Decreased serum estradiol, Progressive sensorineural hearing impairment, Hypoplasia of the ovary,...	OMIM:615300
Congenital Disorder Of Glycosylation, Type Ij	Cryptorchidism, Tremor, Hypsarrhythmia, Flexion contracture, Hypoproteinemia	OMIM:608093
46,Xx Sex Reversal 1	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro...	OMIM:400045
Ciliary Dyskinesia, Primary, 40	Infertility, Azoospermia, Absent outer dynein arms	OMIM:618300
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia, Hypertension, Myocardial infarction, Drusen	ORPHA:54370
Spinocerebellar Ataxia, Autosomal Recessive 27	Spasticity, Cerebellar atrophy, Gait imbalance, Gait ataxia, Spastic ataxia, Gait disturbance, To...	OMIM:618369
47,Xyy Syndrome	Varicocele, Azoospermia, Cryptorchidism, Micropenis, Increased serum testosterone level, Oligozoo...	ORPHA:8
Spinocerebellar Ataxia, Autosomal Recessive 7	Truncal titubation, Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxi...	OMIM:609270
Rapid-Onset Dystonia-Parkinsonism	Cerebellar atrophy, Resting tremor, Gait ataxia, Parkinsonism, Torticollis, Bradykinesia	ORPHA:71517
Omenn Syndrome	Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia...	OMIM:603554
Pseudohypoparathyroidism, Type Ic	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Elevated circulating thyroid-s...	OMIM:612462
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Dysmetria, Distal sensory im...	OMIM:159550
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ...	ORPHA:3282
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Inability to walk, Gait ataxia, Cerebellar atrophy, Ataxia	OMIM:617915
Spinocerebellar Ataxia, Autosomal Recessive 33	Broad-based gait, Dilated fourth ventricle, Gait ataxia, Cerebellar hypoplasia, Head titubation, ...	OMIM:620208
Lissencephaly 6 With Microcephaly	Spasticity, Cerebellar atrophy, Polymicrogyria, Periventricular heterotopia, Microlissencephaly, ...	OMIM:616212
Autosomal Recessive Spastic Paraplegia Type 39	Spastic paraplegia, Cerebellar atrophy, Gait ataxia, Babinski sign, Lower limb spasticity	ORPHA:139480
Pseudohypoparathyroidism Type 1B	Pituitary resistance to thyroid hormone, Hyperphosphatemia, Elevated circulating parathyroid horm...	ORPHA:94089
Malignant Hyperthermia, Susceptibility To, 1	Hypotension, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Tachycardia, ...	OMIM:145600
Combined Oxidative Phosphorylation Deficiency 54	Obesity, Tremor, Sensorineural hearing impairment, Primary amenorrhea, Optic disc pallor, Tachyca...	OMIM:619737
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Pachygyria, Spasticity, Agyria, Gray matter heterotopia	ORPHA:1084
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:66628
Premature Ovarian Failure 8	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated...	OMIM:615723
Ménétrier Disease	Hypoalbuminemia, Gastrointestinal hemorrhage, Weight loss, Hypochromic microcytic anemia, Hypopro...	ORPHA:2494
Boucher-Neuhauser Syndrome	Spasticity, Cerebellar atrophy, Abnormal upper motor neuron morphology, Gait ataxia, Ataxia, Spin...	OMIM:215470
Glycosylphosphatidylinositol Biosynthesis Defect 15	Spasticity, Cerebellar atrophy, Inability to walk, Gait ataxia, Dysmetria, Tremor, Cerebellar hyp...	OMIM:617810
Premature Ovarian Failure 21	Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll...	OMIM:620311
48,Xyyy Syndrome	Male hypogonadism, Primary gonadal insufficiency, Azoospermia	ORPHA:99329
Spinocerebellar Ataxia 17	Broad-based gait, Cerebellar atrophy, Chorea, Limb ataxia, Positive Romberg sign, Gait ataxia, Dy...	OMIM:607136
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Poor motor coordination, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Dilated fourt...	ORPHA:1170
Episodic Ataxia Type 6	Hemiplegia, Cerebellar atrophy, Slurred speech, Ataxia	ORPHA:209967
Paget Disease Of Bone 5, Juvenile-Onset	Hyperphosphatemia, Hearing impairment, Failure to thrive, Angioid streaks of the fundus, Retinopa...	OMIM:239000
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Leukopenia, Acute myeloid leukemia, Refractory anemia, Monocytosis	OMIM:616871
Optic Atrophy 16	Paroxysmal tachycardia, Temporal optic disc pallor, Sensorineural hearing impairment	OMIM:620629
Hypergonadotropic Hypogonadism And Partial Alopecia	Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Leishmaniasis	Hypoalbuminemia, Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Weight l...	ORPHA:507
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Palpitations, Leukocytosis, Anemia of inadequate production, Ab...	ORPHA:86839
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy	Spasticity, Cerebellar atrophy, Limb ataxia, Abnormal pyramidal sign, Head titubation, Torticolli...	OMIM:617560
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:179494
Behr Syndrome	Cerebellar atrophy, Cerebellar vermis atrophy, Dysmetria, Tremor, Babinski sign, Gait disturbance...	OMIM:210000
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Decreased testicular size, Muscular dystrophy, Abnormality of the ovary	ORPHA:1875
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Broad-based gait, Dilated cardiomyopathy, Microcytic anemia, Failure to thrive i...	OMIM:618805
Premature Ovarian Failure 9	Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir...	OMIM:615724
Spinocerebellar Ataxia Type 17	Blepharospasm, Spasticity, Involuntary movements, Cerebellar atrophy, Chorea, Rigidity, Parkinson...	ORPHA:98759
Immunodeficiency 53	Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Failure to th...	OMIM:617585
Hypogonadotropic Hypogonadism 25 With Anosmia	Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-...	OMIM:618841
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia	OMIM:615008
Spinocerebellar Ataxia 34	Spasticity, Cerebellar atrophy, Fasciculations, Limb ataxia, Gait ataxia, Intention tremor, Abnor...	OMIM:133190
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, De...	ORPHA:280679
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Cardiomyopathy, Increased circulating cre...	OMIM:613752
Leber Congenital Amaurosis	Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellar vermis, Encephalocele, He...	ORPHA:65
Leber Hereditary Optic Neuropathy	Ataxia, Optic atrophy, Retinal vascular tortuosity, Postural tremor, Arrhythmia, Ventricular pree...	ORPHA:104
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Larg...	ORPHA:276575
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal...	ORPHA:90791
Maternal Uniparental Disomy Of Chromosome X	Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Gonadal tissue inappropriate for...	ORPHA:261519
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Hypoplasia of the pons, Cerebellar dysplasia, Abnormal cerebellum m...	ORPHA:101070
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Dilated cardiomyopathy, Failure to thrive, Cardiomyopathy, Congestive heart failure...	OMIM:615895
Adult Idiopathic Neutropenia	Monocytopenia, Lymphopenia, Neutropenia, Monocytosis	ORPHA:2688
Autosomal Dominant Severe Congenital Neutropenia	Cellulitis, Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Mono...	ORPHA:486
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Limb ataxia, Gait ataxia, Tremor, Elevated circulating creatine kinase concentra...	OMIM:208920
Kenny-Caffey Syndrome, Type 2	Hyperphosphatemia, Hypocalcemia, Hypoparathyroidism, Papilledema, Transient hypophosphatemia, Ane...	OMIM:127000
Spastic Ataxia 3, Autosomal Recessive	Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Loss of ambula...	OMIM:611390
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Premature ovarian insufficiency, Hypoplasia of the ovary	OMIM:609993
Joubert Syndrome 30	Cerebellar atrophy, Polymicrogyria, Gray matter heterotopia, Superior cerebellar dysplasia, Dandy...	OMIM:617622
46,Xy Complete Gonadal Dysgenesis	Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Autosomal Dominant Hypocalcemia	Optic atrophy, Hypotension, Hyperphosphatemia, Congestive heart failure, Hypomagnesemia, Hypocalc...	ORPHA:428
Aicardi-Goutieres Syndrome 2	Dystonia, Lymphocytosis	OMIM:610181
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle autophagosome accumu...	OMIM:619518
Episodic Ataxia, Type 6	Cerebellar atrophy, Episodic ataxia, Hemiplegia, Hemiparesis, Cerebellar hypoplasia, Truncal atax...	OMIM:612656
Hypoparathyroidism, Familial Isolated, 2	Decreased circulating parathyroid hormone level, Hypocalcemic seizures, Hyperphosphatemia, Hypoca...	OMIM:618883
Hemochromatosis, Type 1	Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m...	OMIM:235200
Sub-Cortical Nodular Heterotopia	Abnormality of neuronal migration, Subcortical heterotopia, Spasticity, Polymicrogyria	ORPHA:101029
Johanson-Blizzard Syndrome	Hypospadias, Abnormal vagina morphology, Failure to thrive, Sensorineural hearing impairment, Abn...	ORPHA:2315
Spinocerebellar Ataxia, Autosomal Recessive 8	Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of extrapyramida...	OMIM:610743
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Obesity, Hypocalcemia, Pseudoh...	OMIM:603233
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome	Hypergonadotropic hypogonadism, Ataxia	ORPHA:88637
Pseudohypoparathyroidism, Type Ia	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypogonadism, Hypocalcemic tet...	OMIM:103580
Ring Chromosome 21 Syndrome	Amenorrhea, Azoospermia, Diabetes insipidus, Infertility	ORPHA:1445
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Large for gestational age, Pal...	ORPHA:276556
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Elongated ...	ORPHA:370022
Genetic Recurrent Myoglobinuria	Hyperphosphatemia, Fatigable weakness of swallowing muscles, Difficulty walking, Hypocalcemia, Ar...	ORPHA:99845
Spinocerebellar Ataxia Type 18	Cerebellar atrophy, Somatic sensory dysfunction, Head tremor, Gait ataxia, Dysmetria, Titubation	ORPHA:98771
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar atrophy, Hypoplasia of the pons, Periventricular heterotopia, Cerebellar hypoplasia, S...	OMIM:616171
Ataxia-Telangiectasia-Like Disorder	Cerebellar vermis hypoplasia, Cerebellar atrophy, Dilated fourth ventricle, Chorea, Gait ataxia, ...	ORPHA:251347
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Lissencephaly, Hypoplasia of the pons, Type II lissencephaly, Cerebellar dysplasia, Cerebellar cy...	OMIM:613153
Ataxia-Telangiectasia-Like Disorder 1	Cerebellar atrophy, Dysdiadochokinesis, Chorea, Gait ataxia, Dysmetria, Lower limb spasticity, Oc...	OMIM:604391
Eosinophilic Gastroenteritis	Hypoalbuminemia, Hematochezia, Leukocytosis, Eosinophilia, Weight loss, Elevated circulating C-re...	ORPHA:2070
Auditory Neuropathy, Autosomal Dominant 1	Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ...	OMIM:609129
Congenital Disorder Of Glycosylation, Type Ia	Ataxia, Hypoalbuminemia, Failure to thrive, Cardiomyopathy, Hypocholesterolemia, Dysmetria, Tremo...	OMIM:212065
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebellar atrophy, Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation	OMIM:619405
Symmetrical Thalamic Calcifications	Abnormality of neuronal migration, Spasticity, Hypertonia, Ataxia	ORPHA:1314
Analbuminemia	Hypoalbuminemia, Hypotension, Increased LDL cholesterol concentration, Elevated circulating trans...	OMIM:616000
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Azoospermia, Hypoplasia of the uterus, Bicornuate uterus	OMIM:601076
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism, Elevated circulating parathyroid hormo...	OMIM:203330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hypoplasia of the pons, Polymicrogyria, Type II lissencephaly, Cerebellar dysplasia, Cerebellar h...	OMIM:615181
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Larg...	ORPHA:276580
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Maturity-onset diabetes of the young, Large for gestational age, Palpi...	ORPHA:324575
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Hearing impairment, Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ova...	ORPHA:2232
49,Xyyyy Syndrome	Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De...	ORPHA:99330
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Hypothyroidism, Hypoproteinemia, Small for gestational age	OMIM:256300
Focal Segmental Glomerulosclerosis 1	Anemia, Hyperlipidemia, Hypertension, Hypoalbuminemia	OMIM:603278
Null Syndrome	Progressive spastic paraplegia, Difficulty walking, Inability to walk, Abnormal cerebellum morpho...	ORPHA:280234
Congenital Analbuminemia	Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S...	ORPHA:86816
Spastic Ataxia 5, Autosomal Recessive	Spasticity, Spastic paraparesis, Cerebellar atrophy, Myoclonus, Dysmetria, Spastic ataxia, Oculom...	OMIM:614487
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Second degree atrioventricular block, Extrame...	OMIM:617021
Hemochromatosis, Type 3	Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr...	OMIM:604250
Enterokinase Deficiency	Hypoproteinemia, Failure to thrive	OMIM:226200
Relapsing Fever	Epistaxis, Hypotension, Increased total bilirubin, Elevated circulating creatinine concentration,...	ORPHA:91547
Spastic Tetraplegia And Axial Hypotonia, Progressive	Cerebellar atrophy, Fasciculations, Ankle clonus, Babinski sign, Abnormal pyramidal sign, Lower l...	OMIM:618598
Spinocerebellar Ataxia Type 21	Cerebellar vermis atrophy, Akinesia, Gait ataxia, Tremor, Rigidity, Abnormality of extrapyramidal...	ORPHA:98773
Ataxia-Oculomotor Apraxia 3	Cerebellar atrophy, Distal sensory impairment, Dysmetria, Oculomotor apraxia, Ataxia, Frequent falls	OMIM:615217
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Spasticity, Fasciculations, Rigidity, Ataxia, Bradykinesia	OMIM:183050
Spinocerebellar Ataxia 8	Spasticity, Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cere...	OMIM:608768
Spinocerebellar Ataxia 6	Cerebellar atrophy, Frequent falls, Incoordination, Dysmetria, Loss of ambulation, Ataxia, Trunca...	OMIM:183086
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Fasciculations, Limb ataxia, Dysmetria, Ankle clonus, Progressive gait ataxia...	ORPHA:284289
Acrodysostosis 1 With Or Without Hormone Resistance	Irregular menstruation, Optic atrophy, Hyperphosphatemia, Hearing impairment, Elevated circulatin...	OMIM:101800
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Low-set ears, Pancreatic lymphangiectasis, Inguinal hernia, Splenomegaly, Hypocalcemia, Cryptorch...	OMIM:235255
Autosomal Spastic Paraplegia Type 58	Spasticity, Cerebellar atrophy, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia...	ORPHA:397946
Testicular Germ Cell Tumor	Azoospermia	OMIM:273300
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Low-set ears, Abnormality of the uterus, Pancreatic lymphangiectasis, Hepatosplenomegaly, Splenom...	ORPHA:1655
Congenital Disorder Of Glycosylation, Type Ih	Low-set ears, Hypoalbuminemia, Failure to thrive, Elevated circulating creatinine concentration, ...	OMIM:608104
Wolcott-Rallison Syndrome	Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Difficulty...	ORPHA:1667
Blue Diaper Syndrome	Hyperphosphatemia, Elevated circulating thyroid-stimulating hormone concentration, Decreased circ...	ORPHA:94086
Mucopolysaccharidosis-Plus Syndrome	Chorioretinal hypopigmentation, Optic atrophy, Hypoalbuminemia, Congestive heart failure, Inabili...	OMIM:617303
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Ankle flexion contracture, Abnormal circulating creatine kinase concentration, Sensorineural hear...	OMIM:617519
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Chiari Malformation Type Ii	Cervical myelopathy, Chiari malformation, Myelomeningocele, Opisthotonus, Hydrocephalus, Spina bi...	OMIM:207950
Spinocerebellar Ataxia 10	Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Limb fasciculations, Dysmetria, Dis...	OMIM:603516
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Cerebellar hypoplasia, Babinski sign, Abnormality of neuronal migration, Pachygyria	OMIM:608840
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment	OMIM:601071
Familial Paroxysmal Ataxia	Cerebellar vermis atrophy, Hemiplegia, Torticollis, Ataxia	ORPHA:97
Cognitive Impairment With Or Without Cerebellar Ataxia	Gait ataxia, Cerebellar atrophy, Dysmetria, Ataxia	OMIM:614306
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Low-set ears, Decreased circulating parathyroid hormone level, Hyperphosphatemia, Decreased respo...	OMIM:241410
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Congenital Enterovirus Infection	Hypoalbuminemia, Hypotension, Cardiomyopathy, Leukopenia, Leukocytosis, Abnormal macrophage morph...	ORPHA:292
Immunodeficiency 24	Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv...	OMIM:615897
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Polymicrogyria, Hemiparesis, Abnormality of neuronal migration, Hypertonia, Pachygyria, Spastic t...	OMIM:604317
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Decreased circulating parathyroid h...	OMIM:601198
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Congenital hypothyroidism, Obesity	ORPHA:88643
Spinocerebellar Ataxia 2	Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Fasciculations, Dilated fourth vent...	OMIM:183090
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib...	OMIM:616515
Charcot-Marie-Tooth Disease, Type 4B1	Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Distal amyotrophy...	OMIM:601382
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Congestive heart failure, Sensorineural hearing impairment, Paroxysmal atrial tach...	ORPHA:49827
Gonadoblastoma	Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc...	ORPHA:206484
Pseudohypoparathyroidism Type 1C	Pituitary resistance to thyroid hormone, Hyperphosphatemia, Elevated circulating parathyroid horm...	ORPHA:79444
Frasier Syndrome	Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G...	ORPHA:347
Generalized Pustular Psoriasis	Hypoalbuminemia, Congestive heart failure, Lymphopenia, Obesity, Leukocytosis, Hypocalcemia, Hypo...	ORPHA:247353
Autosomal Dominant Kenny-Caffey Syndrome	Hyperphosphatemia, Hypocalcemic tetany, Decreased testicular size, Abnormal circulating follicle-...	ORPHA:93325
Pseudohypoparathyroidism Type 1A	Pituitary resistance to thyroid hormone, Elevated circulating calcitonin concentration, Hyperphos...	ORPHA:79443
Spinocerebellar Ataxia Type 8	Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Cerebellar ...	ORPHA:98760
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Spasticity, Spastic paraparesis, Cerebellar atrophy, Myoclonus, Dysmetria, Cerebellar hypoplasia,...	ORPHA:313772
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Diffuse cerebellar atrophy, Limb ataxia, Progressive gait ataxia, Abnormal pyramidal sign, Trunca...	ORPHA:247815
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypoparathyroidism, Hypocalcemic seizures, Decreased circulating...	OMIM:146200
Urocanic Aciduria	Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia	ORPHA:210128
Macrophage Activation Syndrome	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hy...	ORPHA:158061
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Tremor, Pancreatic islet-cell hyperplasia, Increased body weight, Lethargy, Hyp...	ORPHA:276608
Meckel Syndrome 13	Cerebellar hypoplasia, Oculomotor apraxia, Occipital encephalocele, Ataxia	OMIM:617562
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:619398
Spondyloepiphyseal Dysplasia, Nishimura Type	Hyperphosphatemia, Hypocalcemia, Elevated circulating parathyroid hormone level	OMIM:618618
Spinocerebellar Ataxia 36	Tongue fasciculations, Cerebellar atrophy, Fasciculations, Incoordination, Limb ataxia, Gait atax...	OMIM:614153
48,Xxyy Syndrome	Decreased testicular size, Azoospermia, Type II diabetes mellitus, Cryptorchidism, Infertility, H...	ORPHA:10
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:620197
Xfe Progeroid Syndrome	Hypoalbuminemia, Optic atrophy, Hearing impairment, Failure to thrive, Corneal scarring, Attenuat...	OMIM:610965
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hearing impairment, Lymphopenia, Hepatosplenomegaly, Mitral regurgitation, Cryptorchidism, Sensor...	OMIM:612541
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypogonadism, Azoospermia	OMIM:615234
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Complete Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,...	ORPHA:99429
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,...	ORPHA:2235
Diarrhea 13	Hypoalbuminemia, Failure to thrive	OMIM:620357
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia	OMIM:615863
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Ataxia, Unsteady gait	ORPHA:2585
Familial Infantile Myoclonic Epilepsy	Blepharospasm, Cerebellar atrophy, Limb myoclonus, Periventricular nodular heterotopia, Clumsines...	ORPHA:352582
Satoyoshi Syndrome	Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog...	ORPHA:3130
Parkinsonism-Dystonia 3, Childhood-Onset	Cerebellar atrophy, Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hyperton...	OMIM:619738
Hemorrhagic Fever-Renal Syndrome	Epistaxis, Hypotension, Subconjunctival hemorrhage, Hyperphosphatemia, Shock, Elevated circulatin...	ORPHA:340
Intellectual Developmental Disorder, X-Linked 12	Cerebellar vermis hypoplasia, Spasticity, Abnormal cerebellum morphology, Tremor, Hyperkinetic mo...	OMIM:300957
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto...	OMIM:194072
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Optic atrophy, Failure to thrive, Hepatosplenomegaly, Portal hypertension, Chori...	OMIM:619487
Band Heterotopia	Spasticity, Polymicrogyria, Hydrocephalus, Gray matter heterotopia, Subcortical band heterotopia	OMIM:600348
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Microcytic anemia, Hypopituitarism, Hepatosplenomegaly, Hypothyroidism, Hypertri...	OMIM:619013
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Impaired vibratory sensation, Cerebellar atrophy, Impaired pain sensation, Cerebellar vermis atro...	OMIM:614575
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Optic atrophy, Elevated circulating acylcarnitine concentration, Torsade de pointes, Hypertrophic...	OMIM:616878
Al Amyloidosis	Hypoalbuminemia, Howell-Jolly bodies, Gastrointestinal hemorrhage, Postural hypotension with comp...	ORPHA:85443
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Head tremor, Gait imbalance, Postural tremor, Elevated circulating creatine kina...	ORPHA:64753
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory...	OMIM:125250
Brugada Syndrome	Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F...	ORPHA:130
Periventricular Nodular Heterotopia 1	Cerebellar hypoplasia, Abnormality of neuronal migration, Gray matter heterotopia	OMIM:300049
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation...	OMIM:604772
3-Methylglutaconic Aciduria, Type Iv	Cerebellar dysplasia	OMIM:250951
Aromatase Deficiency	Female infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, Type II diabetes m...	ORPHA:91
Galloway-Mowat Syndrome 8	Hypoalbuminemia, Enamel hypoplasia, Hearing impairment	OMIM:618349
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Ciliary Dyskinesia, Primary, 37	Hypothyroidism, Female infertility, Goiter	OMIM:617577
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome	Gait ataxia, Cerebellar atrophy, Sensory ataxia, Babinski sign	ORPHA:445062
Juvenile Neuronal Ceroid Lipofuscinosis	Pigmentary retinopathy, Interictal EEG abnormality, Retinal degeneration, Loss of ambulation, Opt...	ORPHA:79264
Glutathione Synthetase Deficiency	Pigmentary retinopathy, Neutropenia, Ataxia, Hemolytic anemia, Intention tremor	OMIM:266130
Spastic Paraplegia 79B, Autosomal Recessive	Impaired vibratory sensation, Spastic paraplegia, Cerebellar atrophy, Tetraparesis, Fasciculation...	OMIM:615491
His Bundle Tachycardia	Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy	ORPHA:3283
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Optic atrophy, Congestive heart failure, Inability to walk, Hypertrophic cardiom...	ORPHA:505248
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Spasticity, Cerebellar atrophy, Dysmetria, Distal sensory impairment, Babinski sign, Ataxia, Inte...	OMIM:612674
Sanjad-Sakati Syndrome	Hyperphosphatemia, Low-set, posteriorly rotated ears, Abnormal dental enamel morphology, Hypocalc...	ORPHA:2323
Functioning Gonadotropic Adenoma	Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f...	ORPHA:91348
Spinocerebellar Ataxia Type 10	Cerebellar atrophy, Gait imbalance, Gait ataxia, Intention tremor, Dysmetria, Babinski sign, Kine...	ORPHA:98761
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Supraventricular tachycardia, Cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:255100
Atrial Standstill	Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ...	ORPHA:1344
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom...	OMIM:619802
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub...	ORPHA:158048
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo...	OMIM:619897
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Low-set ears, Hypotension, Pigmentary retinopathy, Cystathioninemia, Failure to thrive, Bradycard...	OMIM:277400
Ciliary Dyskinesia, Primary, 45	Male infertility, Absent inner and outer dynein arms	OMIM:618801
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Cellulitis, Hypotension, Fasciitis, Shock, Elevated circulating creatinine conce...	ORPHA:36234
Ataxia With Vitamin E Deficiency	Cerebellar atrophy, Positive Romberg sign, Dysmetria, Impaired proprioception, Clumsiness, Gait d...	OMIM:277460
Wolfram Syndrome 1	Optic atrophy, Pigmentary retinopathy, Hearing impairment, Cardiomyopathy, Sideroblastic anemia, ...	OMIM:222300
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Abetalipoproteinemia	Broad-based gait, Hyperbilirubinemia, Acanthocytosis, Rod-cone dystrophy, Ataxia, Hypotriglycerid...	ORPHA:14
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d...	OMIM:610476
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Mohr-Tranebjaerg Syndrome	Optic atrophy, Shuffling gait, Prelingual sensorineural hearing impairment, Generalized dystonia,...	ORPHA:52368
Congenital Disorder Of Glycosylation, Type Iii	Truncal ataxia, Cerebellar atrophy	OMIM:613612
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperparathyroidism, Hyperphosphatemia, Angioid streaks of the fundus, Enamel hypoplasia, Calcino...	OMIM:211900
Woodhouse-Sakati Syndrome	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Hypogonadism, Decreased testicula...	ORPHA:3464
Spinocerebellar Ataxia 21	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Akinesia, Abnor...	OMIM:607454
Optic Atrophy 8	Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia...	OMIM:616648
Malignant Hyperthermia Of Anesthesia	Hyperphosphatemia, Supraventricular tachycardia, High-output congestive heart failure, Premature ...	ORPHA:423
Coproporphyria, Hereditary	Tachycardia, Hypertension, Splenomegaly	OMIM:121300
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Low-set ears, Failure to thrive, Hypocholesterolemia, Splenomegaly, Lipodystrophy	OMIM:608776
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Cockayne Syndrome Type 1	Optic atrophy, Pigmentary retinopathy, Male hypogonadism, Foot joint contracture, Hearing impairm...	ORPHA:90321
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Abno...	ORPHA:206594
Galloway-Mowat Syndrome 6	Hypoalbuminemia, Hypothyroidism, Decreased response to growth hormone stimulation test, Decreased...	OMIM:618347
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy, Low-set ears, Congenital diaphragmatic hernia, Abnormality of the diaphragm	OMIM:601163
45,X/46,Xy Mixed Gonadal Dysgenesis	Hearing impairment, Recurrent otitis media, Streak ovary, Abnormal scrotum morphology, Cryptorchi...	ORPHA:1772
Avian Influenza	Hypoalbuminemia, Congestive heart failure, Lymphopenia, Leukopenia, Elevated circulating creatine...	ORPHA:454836
Hepatoportal Sclerosis	Hypoalbuminemia, Gastrointestinal hemorrhage, Hypersplenism, Leukopenia, Portal hypertension, Spl...	ORPHA:64743
Snakebite Envenomation	Epistaxis, Hypotension, Cardiogenic shock, Hypopituitarism, Cerebral ischemia, Hyponatremia, Thro...	ORPHA:449285
Aromatase Deficiency	Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea	OMIM:613546
Peripartum Cardiomyopathy	Mitral regurgitation, Elevated jugular venous pressure, Left bundle branch block, Tachycardia, Ri...	ORPHA:563
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Elevated circulating luteinizing hormone level, Decreased response to growth hormone stimulation ...	OMIM:300845
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Goiter, Decreased thyroid-stimulating hormone level, Tremor, Hypokalemia, Weight loss, Increased ...	OMIM:613239
Spinocerebellar Ataxia 27A	Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia	OMIM:193003
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona...	OMIM:308750
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Hematochezia, Intraalveolar phospholipid accumulation, Leukocytosis, Autoimmune hem...	OMIM:620565
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Resting tremor, Hand tre...	OMIM:157640
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Obesity, Hypercholesterolemia, Ataxia, Dystonia, Elevated circulating alpha-feto...	OMIM:616267
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Optic atrophy, Failure to thrive, Cardiomyopathy, Splenomegaly, Hyperammonemia, Lethargy, Neutrop...	ORPHA:79312
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ...	OMIM:614021
Abcd Syndrome	Abnormal auditory evoked potentials, Polycythemia, Hypopigmentation of the fundus, Hearing impair...	OMIM:600501
Erythroderma, Lethal Congenital	Hypoalbuminemia, Failure to thrive	OMIM:227090
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ...	ORPHA:529799
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration, Hypertonia	ORPHA:2216
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil...	ORPHA:90793
Tularemia	Brain abscess, Cutaneous abscess, Leukocytosis, Otitis media, Thrombocytopenia, Anemia, Tachycardia	ORPHA:3392
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hy...	ORPHA:540
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Alg12-Cdg	Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Cryptorchidism, Sensorineural hearing im...	ORPHA:79324
Exercise-Induced Malignant Hyperthermia	Hypotension, Abnormal pulse pressure, Hyperphosphatemia, Sinus tachycardia, Abnormal T-wave, Hypo...	ORPHA:466650
Ciliary Dyskinesia, Primary, 34	Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti...	OMIM:617091
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Congestive heart failure, Leukocytosis, Constrictive pericarditis, Weight loss, ...	ORPHA:67
Tetanus	Autonomic bladder dysfunction, Tremor, Elevated circulating creatine kinase concentration, Opisth...	ORPHA:3299
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
46,Xy Sex Reversal 7	Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon...	OMIM:233420
Calciphylaxis	Cellulitis, Hyperphosphatemia, Secondary hyperparathyroidism	ORPHA:280062
Fibronectin Glomerulopathy	Hypoalbuminemia, Hypertension, Cerebral hemorrhage	ORPHA:84090
Subependymal Nodular Heterotopia	Occipital encephalocele, Acroparesthesia, Limb myoclonus, Polymicrogyria, Myelomeningocele, Abnor...	ORPHA:101030
Ravine Syndrome	Decreased body weight, Abnormal auditory evoked potentials, Failure to thrive, Ataxia	ORPHA:99852
Autosomal Dominant Optic Atrophy Plus Syndrome	Optic atrophy, Cardiomyopathy, Sensorineural hearing impairment, Abnormal retinal nerve fiber lay...	ORPHA:1215
Lissencephaly Syndrome, Norman-Roberts Type	Abnormality of neuronal migration, Microlissencephaly, Cerebellar atrophy, 4-layered lissencephaly	ORPHA:89844
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Tachycardia, Shock, Elevated circulating crea...	ORPHA:99826
Gerstmann-Straussler Disease	Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Parkinsoni...	OMIM:137440
Gillespie Syndrome	Cerebellar atrophy, Postural tremor, Cerebellar hypoplasia, Ataxia, Slurred speech	OMIM:206700
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Hypoplasia of the pons, Polymicrogyria, Type II lissencephaly, Dilated f...	ORPHA:370959
Muscular Dystrophy, Congenital, Lmna-Related	Failure to thrive, Elbow contracture, Paroxysmal atrial fibrillation, Hamstring contractures, Hip...	OMIM:613205
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypoalbuminemia, Type I diabetes mellitus, Hypomagnesemia, Failure to thrive in infancy, Autoimmu...	ORPHA:37042
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi...	ORPHA:45453
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Congenital Lethal Erythroderma	Hypoalbuminemia, Failure to thrive	ORPHA:1954
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ...	OMIM:610193
Acquired Partial Lipodystrophy	Lymphocytosis, Lipoatrophy, Hearing impairment	ORPHA:79087
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Hypophosphatemic rickets, Hyperinsulinemia, Tremor, Pancreatic islet-c...	ORPHA:263455
Liver Disease, Severe Congenital	Recurrent otitis media, Hyperbilirubinemia, Hypoproteinemia, Hypospadias, Systolic heart murmur, ...	OMIM:619991
Familial Glucocorticoid Deficiency	Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration...	ORPHA:361
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602087
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Hematochezia, Abnormal circulating protein concentration, Weight loss, Abnormal ...	ORPHA:103910
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Hypogonadism, Adrenal insufficiency, Azoospermia, Hypothyroidism, Abnormality of the hypothalamus...	ORPHA:300298
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death	OMIM:107970
Pyruvate Dehydrogenase E1-Beta Deficiency	Cerebellar hypoplasia, Periventricular heterotopia, Pachygyria, Ataxia	ORPHA:255138
Classic Galactosemia	Postural tremor, Gait imbalance, Action tremor, Cryptorchidism, Primary amenorrhea, Lethargy, Abn...	ORPHA:79239
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Postural tremor, Gait ataxia, Action tremor, Thrombocytopenia, Unsteady gait, In...	OMIM:254900
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Abnormal auditory evoked potentials, Attenuation of retinal blood vessels, Macular atrophy, Retin...	OMIM:619260
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hypotension, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chro...	ORPHA:98849
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, L...	ORPHA:45452
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia	ORPHA:2795
Cardiomyopathy, Dilated, 1Ii	Dilated cardiomyopathy, Mitral regurgitation, Elevated circulating creatine kinase concentration,...	OMIM:615184
Chylomicron Retention Disease	Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole...	OMIM:246700
Immunodeficiency 69	Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Hepatosplenome...	OMIM:618963
Alg1-Cdg	Hypoalbuminemia, Cardiomyopathy	ORPHA:79327
Mpi-Cdg	Hypoalbuminemia, Gastrointestinal hemorrhage, Failure to thrive, Portal hypertension, Hypothyroid...	ORPHA:79319
Joubert Syndrome 23	Cerebellar dysplasia	OMIM:616490
48,Xxxy Syndrome	Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Type II diabetes mellitus, C...	ORPHA:96263
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Optic atrophy, Failure to thrive, Hypertrophic cardiomyopathy, Sensorineural hea...	OMIM:618329
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Optic atrophy, Hyperammonemia, Lethargy, Neutropenia, Thrombocytopenia, Anemia, Dystonia, Choreoa...	ORPHA:289916
Cystinosis	Type I diabetes mellitus, Failure to thrive, Portal hypertension, Retinopathy, Hypokalemia, Hypop...	ORPHA:213
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Hepatosplen...	ORPHA:367
Spinocerebellar Ataxia Type 13	Cerebellar atrophy, Difficulty walking, Limb ataxia, Gait ataxia, Myoclonus, Clumsiness, Torticol...	ORPHA:98768
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso...	ORPHA:320401
Myotonic Dystrophy 1	Cholelithiasis, Cerebral atrophy, Hypogonadism, Facial diplegia, Testicular atrophy	OMIM:160900
Colchicine Poisoning	Hypotension, Cardiogenic shock, Congestive heart failure, Hypomagnesemia, Leukocytosis, Hypocalce...	ORPHA:31824
Stiff-Person Syndrome	Opisthotonus, Exaggerated startle response, Anemia, Tachycardia, Hypertension, Diabetes mellitus	OMIM:184850
Leukodystrophy, Hypomyelinating, 13	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Ataxia, Failure to thr...	OMIM:616881
Ovarian Fibrothecoma	Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O...	ORPHA:314478
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum	ORPHA:2772
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Congestive heart failure, Increased circulating ferritin concentration, Infertili...	ORPHA:465508
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602086
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Cardiomyopathy, Dilated, 2F	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:619747
Gaisböck Syndrome	Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Elevated dia...	ORPHA:90041
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Positive regitine blocking test, Pheochromocytoma, Hypertensive retinop...	OMIM:171420
Tetragametic Chimerism	Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt...	ORPHA:199310
Cardiomyopathy, Dilated, 1E	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri...	OMIM:601154
Crome Syndrome	Cerebellar dysplasia	OMIM:218900
Renal Nutcracker Syndrome	Varicocele, Infertility, Dysmenorrhea, Vulval varicose vein, Syncope, Weight loss, Orthostatic hy...	ORPHA:71273
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Cupped ear, Interphalangeal thumb joint contracture, Hypertension, Aganglionic megacolon, Abnorma...	OMIM:613870
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret...	ORPHA:35858
Neurocutaneous Melanocytosis	Chiari malformation, Hemiparesis, Abnormality of neuronal migration, Aplasia/Hypoplasia of the ce...	ORPHA:2481
Variegate Porphyria	Tachycardia	OMIM:176200
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Hip contracture, Sensorineural hearing impairment, Cryptorch...	OMIM:216400
Myotonic Dystrophy 2	Hypogonadism, Palpitations, Type II diabetes mellitus, Elevated circulating creatine kinase conce...	OMIM:602668
49,Xxxxy Syndrome	Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Type II diabetes mellitus, C...	ORPHA:96264
Joubert Syndrome	Cerebellar vermis hypoplasia, Polymicrogyria, Encephalocele, Tremor, Abnormality of neuronal migr...	ORPHA:475
Pierson Syndrome	Retinal vascular tortuosity, Hypopigmentation of the fundus, Macular hypoplasia, Retinal detachme...	OMIM:609049
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Increased circulating ferritin concentration, Absent brainstem auditory responses, Head titubatio...	ORPHA:3240
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Hypoalbuminemia, Decreased circulating iron concentration, Atypical scarring of skin, Dilated car...	ORPHA:89842
Ataxia-Telangiectasia	Failure to thrive, Aplasia/Hypoplasia of the thymus, Lymphopenia, Type II diabetes mellitus, Trem...	ORPHA:100
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol concentration, Hyperthreoninemi...	ORPHA:247598
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Dilated cardiomyopathy, Generalized dystonia, Pancytopenia, Gait ataxia, Lethargy, Hypsarrhythmia...	OMIM:618321
Sepsis In Premature Infants	Hypotension, Leukocytosis, Splenomegaly, Bradycardia, Decreased body weight, Elevated circulating...	ORPHA:90051
Drug-Induced Autoimmune Hemolytic Anemia	Congestive heart failure, Increased total bilirubin, Splenomegaly, Autoimmune hemolytic anemia, T...	ORPHA:90037
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Cellulitis, Recurrent otitis media, Lymphop...	OMIM:618986
Blepharophimosis, Ptosis, And Epicanthus Inversus	Irregular menstruation, Female infertility, Cupped ear, Amenorrhea, Increased circulating gonadot...	OMIM:110100
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Decreased body ...	ORPHA:2298
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ...	ORPHA:99105
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Decreased testicular size, Opisthotonus, Splenic rupture, Internal hemo...	ORPHA:335
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Dysmenorrhea...	ORPHA:90796
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Hypoalbuminemia, Failure to thrive, Sensorineural hearing impairment, Increased serum bile acid c...	OMIM:242150
Congenital Heart Defects, Multiple Types, 3	Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu...	OMIM:614954
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Splenomegaly	OMIM:606445
Systemic Lupus Erythematosus 17	Hypertensive crisis, Lymphopenia, Leukopenia, Mitral regurgitation, Optic neuritis, Raynaud pheno...	OMIM:301080
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Goiter, Palpitations, Hypokalemia, Weight loss, Hyperthyroidism, Tachycardia	OMIM:188580
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Optic atrophy, Undetectable visual evoked potentials, Arm dystonia, Hearing impairment, Progressi...	OMIM:601338
Hemimegalencephaly	Polymicrogyria, Gray matter heterotopia, Myoclonus, Hemiparesis, Pachygyria, Abnormal neuron morp...	ORPHA:99802
Dentatorubral Pallidoluysian Atrophy	Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Myoclonus, Action tremor, ...	ORPHA:101
High Altitude Pulmonary Edema	Tachycardia, Leukocytosis	ORPHA:330012
Linear Verrucous Nevus Syndrome	Hypophosphatemia, Retinopathy, Aplasia/Hypoplasia of the fovea	ORPHA:2611
Porphyria Variegata	Abnormal circulating porphyrin concentration, Hyponatremia, Scarring, Abnormal autonomic nervous ...	ORPHA:79473
Cardiomyopathy, Familial Hypertrophic, 16	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, V...	OMIM:613838
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Atrioventricular block, Cardiomyopathy, Hyperammonemia, Elevated circulating creatin...	OMIM:212138
Pancreatic insufficiency, combined exocrine	Hypoproteinemia, Congestive heart failure	OMIM:260450
Cinca Syndrome	Hearing impairment, Progressive sensorineural hearing impairment, Hepatosplenomegaly, Leukocytosi...	OMIM:607115
Lipodystrophy, Congenital Generalized, Type 4	Failure to thrive, Hyperinsulinemia, Splenomegaly, Hypertriglyceridemia, Elevated circulating cre...	OMIM:613327
Lhermitte-Duclos Disease	Polymicrogyria, Enlarged cerebellum, Hydrocephalus, Ataxia	ORPHA:65285
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum, Hypertonia	ORPHA:2518
Myopathy With Extrapyramidal Signs	Optic atrophy, Extremely elevated creatine kinase, Difficulty walking, Leukocytosis, Splenomegaly...	OMIM:615673
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Hyperammonemia, Elevated circulating creatine kinase concentration, Letha...	OMIM:600649
Ciliary Dyskinesia, Primary, 18	Absent outer dynein arms, Absent inner dynein arms, Immotile sperm, Male infertility	OMIM:614874
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ...	OMIM:604400
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Abnormal B cell coun...	OMIM:617514
Galloway-Mowat Syndrome 1	Hypoalbuminemia, Optic atrophy, Low-set ears, Joint contracture of the hand, Hiatus hernia, Ataxi...	OMIM:251300
Cardiomyopathy, Dilated, 2I	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac...	OMIM:620462
S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Cardiomyopathy, Abnormal circulating homo...	ORPHA:88618
Hypocalcemic Vitamin D-Dependent Rickets	Hypochromic anemia, Elevated circulating parathyroid hormone level, Failure to thrive, Cardiomyop...	ORPHA:289157
Adult-Onset Autosomal Dominant Leukodystrophy	Autonomic bladder dysfunction, Action tremor, Sensorineural hearing impairment, EEG with generali...	ORPHA:99027
Mccune-Albright Syndrome	Irregular menstruation, Precocious puberty, Hearing impairment, Increased circulating prolactin c...	ORPHA:562
Hereditary Pulmonary Alveolar Proteinosis	Failure to thrive in infancy, Tachycardia, Abnormal circulating protein concentration, Elevated c...	ORPHA:264675
Catecholaminergic Polymorphic Ventricular Tachycardia	Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation...	ORPHA:3286
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven...	OMIM:608758
Cntnap2-Related Developmental And Epileptic Encephalopathy	Cerebral palsy, Cerebellar vermis atrophy, Abnormality of neuronal migration, Lower limb spastici...	ORPHA:163681
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentrati...	OMIM:222470
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Neutrophilia, Tachycardia, Epididymitis, Diffuse alveolar hemorrhage, Bundle branch...	ORPHA:99827
Romano-Ward Syndrome	Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Hypokalemia, Syncope, Abnormal autonomic ...	ORPHA:101016
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Optic atrophy, Atrioventricular block, Atrial flutter, Failure to...	ORPHA:137675
Acquired Methemoglobinemia	Palpitations, Methemoglobinemia, Arrhythmia, Syncope, Tachycardia	ORPHA:464453
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Macrocytic anemia, Aniso...	ORPHA:71275
Glutathionuria	Gray matter heterotopia, Action tremor, Dysdiadochokinesis, Tremor	OMIM:231950
8P11.2 Deletion Syndrome	Hypogonadism, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of penis, Ab...	ORPHA:251066
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t...	OMIM:611528
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin	OMIM:618528
Hereditary Coproporphyria	Atypical scarring of skin, Long hairs growing from helix of pinna, Abnormal circulating porphyrin...	ORPHA:79273
Vitamin D-Dependent Rickets, Type 3	Hypophosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia	OMIM:619073
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Abnormal optic nerve morphology, Leukocytosis, Splenomegaly, Sensorineural hearin...	ORPHA:3226
Ring Chromosome 22 Syndrome	Azoospermia	ORPHA:1446
Wilson Disease	Hypouricemia, Hypoalbuminemia, Chondrocalcinosis, Hand tremor, Decreased nerve conduction velocit...	OMIM:277900
Graft Versus Host Disease	Hemophagocytosis, Failure to thrive, Fasciitis, Hepatosplenomegaly, Hyperbilirubinemia, Dupuytren...	ORPHA:39812
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Cla...	OMIM:601455
Sneddon Syndrome	Lymphopenia, Atrophic scars, Ischemic stroke, Tremor, Cerebral hemorrhage, Facial palsy, Hyperten...	OMIM:182410
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Failure to thrive, Hyperbilirubinemia, Portal hypertension, Splenomegaly, Thromb...	OMIM:251880
Immunodeficiency 18	Reduced natural killer cell count, Recurrent otitis media, Lymphopenia, Abnormal B cell count, De...	OMIM:615615
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Cryptorchidism, Oligozoospermia	OMIM:314300
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia, Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90036
Cardiomyopathy, Dilated, 1G	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula...	OMIM:604145
Ciliary Dyskinesia, Primary, 9	Recurrent otitis media, Chronic otitis media, Absent outer dynein arms, Male infertility	OMIM:612444
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Pearson Syndrome	Hearing impairment, Pancytopenia, Hypophosphatemia, Neutropenia, Ataxia, Hypoparathyroidism, Hypo...	ORPHA:699
Bone Marrow Failure Syndrome 5	Testicular atrophy, Hypogonadism	OMIM:618165
Bilateral Perisylvian Polymicrogyria	Cerebellar vermis hypoplasia, Spasticity, Oromotor apraxia, Bilateral perisylvian polymicrogyria,...	ORPHA:98889
Leptospirosis	Hypotension, Pulmonary hemorrhage, Macular cotton wool spot, Chorioretinitis, Arrhythmia, Papille...	ORPHA:509
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Parathyroid hyperplasia, Hypercalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormo...	OMIM:617994
Ciliary Dyskinesia, Primary, 14	Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a...	OMIM:613807
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Distal amyotrophy, Decreased motor ne...	OMIM:601596
Congenital Myopathy 5 With Cardiomyopathy	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Elevated circulating cr...	OMIM:611705
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Low-set ears, Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decrease...	ORPHA:572333
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration	ORPHA:1980
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Ataxia-Telangiectasia	Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, Ataxia, ...	OMIM:208900
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:612098
Charcot-Marie-Tooth Disease Type 1F	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle...	ORPHA:101085
Mercury Poisoning	Hypotension, Tremor, Hypokalemia, Tachycardia, Dystonia, Hypertension	ORPHA:330021
Microcephaly 29, Primary, Autosomal Recessive	Enlarged cerebellum, Simplified gyral pattern, Ataxia	OMIM:620047
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic atrophy, Inability to walk, Exaggerated startle response, Optic disc pallor, Flexion contra...	OMIM:609541
Juvenile Polyposis Syndrome	Low-set ears, Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Brain abscess, Failure to thr...	ORPHA:2929
Scorpion Envenomation	Cardiogenic shock, Prominent U wave, Priapism, Congestive heart failure, Bundle branch block, Car...	ORPHA:466677
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Autoimmune thromb...	ORPHA:444463
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Dilated cardiomyopathy, Hypercholesterolemia	OMIM:616730
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly,...	ORPHA:169154
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca...	OMIM:614916
Pheochromocytoma/Paraganglioma Syndrome 1	Elevated circulating catecholamine level, Conductive hearing impairment, Vagal paraganglioma, Che...	OMIM:168000
Cardiomyopathy, Familial Hypertrophic, 12	Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular tachycardia, Reduced lef...	OMIM:612124
Specific Granule Deficiency 1	Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,...	OMIM:245480
Reticular Dysgenesis	Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus	OMIM:267500
Long Qt Syndrome 3	Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati...	OMIM:603830
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Müllerian Aplasia And Hyperandrogenism	Abnormal vagina morphology, Abnormality of the ovary, Protruding ear, Increased serum testosteron...	ORPHA:247768
Late-Infantile/Juvenile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Difficulty walking, Decreased nerve c...	ORPHA:206443
Juvenile Polyposis Of Infancy	Hypoalbuminemia, Hematochezia, Intestinal bleeding, Gastrointestinal hemorrhage, Low-set ears, Fr...	ORPHA:79076
Hypomagnesemia 3, Renal	Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Failure to th...	OMIM:248250
Timothy Syndrome	Atrioventricular block, Hypocalcemia, Pulmonary arterial hypertension, Ventricular tachycardia, H...	OMIM:601005
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hematochezia, Low-set ears, Elevated circulating thyroid-stimulating hormone con...	OMIM:618183
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia, Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia	OMIM:141000
Primary Ciliary Dyskinesia	Abnormal sperm motility, Conductive hearing impairment, Hearing impairment, Polysplenia, Female i...	ORPHA:244
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Intestinal bleeding, Right ventricular failure, Secondary hyperaldosteronism, Re...	ORPHA:90363
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Increased adipose tissue around the neck, Reduced subcutaneous adipose tissue, Dysmenorrhea, Poly...	ORPHA:280365
Joubert Syndrome With Oculorenal Defect	Cerebellar vermis hypoplasia, Encephalocele, Abnormality of neuronal migration, Hydrocephalus, At...	ORPHA:2318
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Failure to thrive, Hyperammonemia, Sensorineural hearing impairment, Decreased s...	OMIM:617093
Arthrogryposis, Distal, Type 2A	Joint contracture of the hand, Abnormal auditory evoked potentials, Shoulder flexion contracture,...	OMIM:193700
Non-Functioning Pituitary Adenoma	Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi...	ORPHA:91349
Nephrotic Syndrome, Type 8	Hypoalbuminemia, Sensorineural hearing impairment	OMIM:615244
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic atrophy, Difficulty walking, Multiple joint contractures, Exaggerated startle response, Opt...	ORPHA:320406
Pituitary Dermoid And Epidermoid Cysts	Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Amenorrhea, Hype...	ORPHA:91351
Long Qt Syndrome 15	Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve...	OMIM:616249
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Pulmonary embolism, Abnormal circulating lipid concentration, Hypercholesterolem...	ORPHA:567548
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Congestive heart fail...	ORPHA:75564
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Hyperinsulinemic hypoglycemia, Failure to thrive	OMIM:602579
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemia, Hypophosphatemic rickets, Sensorineural hearing impairment	OMIM:241520
Long Qt Syndrome 13	Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced...	OMIM:613485
Cinca Syndrome	Hearing impairment, Pseudopapilledema, Leukocytosis, Splenomegaly, Sensorineural hearing impairme...	ORPHA:1451
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Lissencephaly, Polymicrogyria, Type II lissencephaly, Encephalocele, Cerebellar hypoplasia, Hydro...	OMIM:614643
Leukodystrophy, Hypomyelinating, 5	Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n...	OMIM:610532
Adult Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Upper limb muscle weakness, Lower lim...	ORPHA:206448
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	OMIM:613251
Dent Disease 2	Hypophosphatemia, Umbilical hernia, Elevated circulating creatine kinase concentration	OMIM:300555
Cockayne Syndrome B	Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Small for gestational...	OMIM:133540
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Second degree atrioventricular block, Graves disease, Hypomagnesemia, Obesi...	ORPHA:79102
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Familial Dysautonomia	Optic atrophy, Hyponatremia, Gait disturbance, Orthostatic hypotension, Ataxia, Tachycardia, Hype...	ORPHA:1764
H Syndrome	Hypogonadism, Decreased testicular size, Azoospermia, Amenorrhea, Delayed puberty, Micropenis, Di...	ORPHA:168569
16P12.1P12.3 Triplication Syndrome	Low-set ears, Failure to thrive, Bilateral cryptorchidism, Large earlobe, Decreased response to g...	ORPHA:485405
Immunodeficiency 105	Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho...	OMIM:619924
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hearing impairment, Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic...	OMIM:617780
Pheochromocytoma/Paraganglioma Syndrome 3	Elevated circulating catecholamine level, Chemodectoma, Palpitations, Hypertension associated wit...	OMIM:605373
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Spasticity, Difficulty walking, Periventricular heterotopia, Rigidity, Cerebellar hypoplasia, Chi...	OMIM:618476
Atrial Fibrillation, Familial, 15	Supraventricular tachycardia, Atrial fibrillation, Sudden cardiac death, Atrial flutter	OMIM:615770
Hypercalcemia, Infantile, 2	Hypophosphatemia, Hypercalcemia, Failure to thrive	OMIM:616963
Walker-Warburg Syndrome	Lissencephaly, Abnormal cortical gyration, Polymicrogyria, Cerebellar hypoplasia, Abnormality of ...	ORPHA:899
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Hypertrophic cardiomyopathy, Tachycardia, Elevated circulating creatine kinase concentration, Hig...	ORPHA:368
Tako-Tsubo Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Mitral regurgitation, Arrhythmia, ...	ORPHA:66529
Cardiomyopathy, Dilated, 1P	Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure	OMIM:609909
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypotension, Reduced left ventricular ejection fraction, Elevated circulating creatinine concentr...	ORPHA:542323
Juvenile Polyposis Syndrome	Hypoalbuminemia, Hematochezia, Failure to thrive, Hypokalemia, Anemia	OMIM:174900
Pheochromocytoma	Congestive heart failure, Positive regitine blocking test, Pheochromocytoma, Hypertensive retinop...	OMIM:171300
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia, Low-set ears, Joint contracture of the hand, Conductive hearing impairment, Umbi...	OMIM:235510
Ovarian Fibroma	Abnormality of the ovary, Ovarian fibroma, Gonadal calcification	ORPHA:314473
Combined Oxidative Phosphorylation Deficiency 55	High-frequency hearing impairment, Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating...	OMIM:619743
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Leopard Syndrome 1	Low-set ears, Delayed menarche, Cryptorchidism, Aplasia of the ovary, Sensorineural hearing impai...	OMIM:151100
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Orbital encephalocele, Dandy-Walker malformation	OMIM:164180
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials	OMIM:617523
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f...	ORPHA:300751
Coronary Arterial Fistula	Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati...	ORPHA:2041
Sandhoff Disease	Ataxia, Cherry red spot of the macula, Hepatosplenomegaly, Orthostatic hypotension, Exaggerated s...	OMIM:268800
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Cerebral vasculitis, Goiter, Leukocytosis, Hyponatremia, Hashimoto thyroiditis, Hypothyroidism, T...	ORPHA:83601
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab...	ORPHA:1329
Mogs-Cdg	Optic atrophy, Hepatosplenomegaly, External genital hypoplasia, Sensorineural hearing impairment,...	ORPHA:79330
Vitamin D-Dependent Rickets, Type 2A	Elevated circulating parathyroid hormone level, Hearing impairment, Failure to thrive, Difficulty...	OMIM:277440
Immunodeficiency 82 With Systemic Inflammation	Hypoalbuminemia, Reduced natural killer cell count, Anoperineal fistula, Recurrent otitis media, ...	OMIM:619381
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Dilated cardiomyopathy, Tip-toe gait, Elbow flexion contracture, Ventricu...	ORPHA:98855
Cardiomyopathy, Dilated, 1B	Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea...	OMIM:600884
Hypophosphatemic Rickets, X-Linked Dominant	Elevated circulating parathyroid hormone level, Hepatosplenomegaly, Hypophosphatemic rickets, Ena...	OMIM:307800
Tsh-Secreting Pituitary Adenoma	Increased circulating prolactin concentration, Central adrenal insufficiency, Weight loss, Decrea...	ORPHA:91347
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Failure to thrive, Inability to walk, Exaggerated startle response, EEG with generalized slow act...	OMIM:617864
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia	OMIM:619101
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatemic rickets, Increa...	ORPHA:157215
Autosomal Dominant Hypophosphatemic Rickets	Tooth abscess, Hypophosphatemia, Iron deficiency anemia, Hypocalcemia	ORPHA:89937
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Vasculitis, Failure to thrive in infancy, Leukocytosis, Increased proportion of CD4-positive T ce...	OMIM:617099
Mirage Syndrome	Hypospadias, Microphallus, Lymphopenia, Leukopenia, Decreased testicular size, Adrenal insufficie...	OMIM:617053
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Elevated circulating parathyroid hormone level, Failure to thrive, Difficulty walking, Hypocalcem...	OMIM:264700
Jervell And Lange-Nielsen Syndrome	Torsade de pointes, Profound sensorineural hearing impairment, Arrhythmia, Syncope, Iron deficien...	ORPHA:90647
Cystinosis, Nephropathic	Pigmentary retinopathy, Decreased circulating carnitine concentration, Male hypogonadism, Retinal...	OMIM:219800
Danon Disease	Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricular block, Increased Q...	OMIM:300257
Staphylococcal Necrotizing Pneumonia	Hypotension, Shock, Leukopenia, Leukocytosis, Lethargy, Increased circulating procalcitonin conce...	ORPHA:36238
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Supraventricular tac...	OMIM:612158
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hypotension, Decreased circulating carnitine co...	ORPHA:159
Cholera	Hypovolemic shock, Hypotension, Abnormal blood ion concentration, Hypocalcemia, Hypokalemia, Hypo...	ORPHA:173
Autoimmune Hemolytic Anemia, Warm Type	Congestive heart failure, Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, ...	ORPHA:90033
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Cardiomyopathy, Palpitations, T-wave inversion, Arrhythmia, Ventricular tachycardia, Ventricular ...	ORPHA:263297
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Central hypothyroidism, Acute monocytic leukemia, Progressive hearing impairm...	ORPHA:514
Infantile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, Fa...	ORPHA:206436
Ventricular Tachycardia, Familial	Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy	OMIM:192605
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc...	OMIM:618920
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Dysplastic testes, Partial development of the penile shaft, Cryptorchidism, Testicular dysgenesis...	OMIM:608800
Hyperthyroidism, Nonautoimmune	Small for gestational age, Thyroid hyperplasia, Goiter, Decreased thyroid-stimulating hormone lev...	OMIM:609152
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypoalbuminemia, Failure to thrive, Pulmonic stenosis, Reduced circulating growth hormone concent...	OMIM:615508
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Cerebral Palsy, Spastic Quadriplegic, 3	Spasticity, Abnormal pyramidal sign, Gray matter heterotopia, Spastic tetraplegia, Spastic diplegia	OMIM:617008
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Congestive heart failure, Left bundle branch block, Increased left ventri...	OMIM:601493
Galloway-Mowat Syndrome 3	Hypoalbuminemia, Low-set ears, Failure to thrive, Hiatus hernia, Camptodactyly, Hypertension	OMIM:617729
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Failure to thrive, Difficulty walking, Hypophosphatemic rickets, Hypophosphatemia, Abnormal circu...	OMIM:241530
Herpes Simplex Virus Encephalitis	Leukocytosis, Hyponatremia, EEG abnormality, Neutrophilia, Elevated circulating C-reactive protei...	ORPHA:1930
Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Dilated cardiomyopathy, Tip-toe gait, Hypertrophic cardiomyopathy, Ventri...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Dilated cardiomyopathy, Tip-toe gait, Hypertrophic cardiomyopathy, Ventri...	ORPHA:98853
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Distal amyotrophy, Hearing impairment, Cerebral atrophy, Decreased nerve conduction velocity, Sho...	OMIM:609136
Alkuraya-Kucinskas Syndrome	Lissencephaly, Cerebellar dysplasia, Cerebellar hypoplasia, Oculomotor apraxia, Hydrocephalus, Gr...	OMIM:617822
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Hypocalcemia, Hypophosphatemia, Gait disturbance, Abnormal adipose tissue mo...	ORPHA:93160
Double Outlet Right Ventricle	Failure to thrive, Aplasia/Hypoplasia of the thymus, Heart murmur, Hypocalcemia, Abnormality of c...	ORPHA:3426
Bloom Syndrome	Azoospermia, Decreased fertility in females, Type II diabetes mellitus, Cryptorchidism	OMIM:210900
Kawasaki Disease	Hypoalbuminemia, Vasculitis, Congestive heart failure, Leukocytosis, Arrhythmia, Elevated circula...	ORPHA:2331
Tay-Sachs Disease	Precocious puberty, Optic atrophy, Increased serum beta-hexosaminidase, Hearing impairment, Cherr...	ORPHA:845
Hydroxykynureninuria	Tachycardia, Hypotension, Abnormal circulating tryptophan concentration, Congenital sensorineural...	ORPHA:79155
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Congenitally Uncorrected Transposition Of The Great Arteries	Failure to thrive, Congestive heart failure, Abnormal QRS complex, Heart murmur, Abnormality of b...	ORPHA:860
Brugada Syndrome 1	Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco...	OMIM:601144
Joubert Syndrome With Hepatic Defect	Cerebellar vermis hypoplasia, Occipital encephalocele, Tremor, Abnormality of neuronal migration,...	ORPHA:1454
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Failure to thrive, Recurrent otitis media, Lymphopenia, B lymphocytopenia, Pulmonary insufficienc...	ORPHA:277
Multiple Myeloma	Elevated circulating creatinine concentration, Splenomegaly, Weight loss, Anemia, Hyperproteinemi...	ORPHA:29073
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Small scrotum, Failure to thrive, Slender build, Pancytopenia, Portal hypertensi...	OMIM:613658
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Congestive heart failure, Hyperbilirubine...	OMIM:617156
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Optic atrophy, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Retina...	OMIM:253800
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Failure to thrive, Cerebral vasculitis, Lymphopenia, Autoimmune hemolytic anemia, S...	OMIM:613179
Cardiomyopathy, Dilated, 1O	Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he...	OMIM:608569
Left Ventricular Noncompaction 1	Congestive heart failure, Left ventricular noncompaction cardiomyopathy, Palpitations, Mitral reg...	OMIM:604169
X-Linked Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Tip-toe gait, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Inc...	ORPHA:98863
Familial Isolated Hyperparathyroidism	Chondrocalcinosis, Elevated circulating parathyroid hormone level, Hypophosphatemia, Parathyroid ...	ORPHA:99879
Mevalonic Aciduria	Low-set ears, Fluctuating splenomegaly, Failure to thrive, Failure to thrive in infancy, Hepatosp...	OMIM:610377
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Failure to thrive, Atrophic scars, Scarring, Enamel hypoplasia, Anemia	ORPHA:79396
Ethylene Glycol Poisoning	Hypotension, Hyperkalemia, Congestive heart failure, Shock, Hypocalcemia, Prolonged QT interval, ...	ORPHA:31826
Smith-Lemli-Opitz Syndrome	Low-set ears, Small scrotum, Hearing impairment, Recurrent otitis media, Cryptorchidism, Ventricu...	OMIM:270400
Edinburgh Malformation Syndrome	Abnormality of neuronal migration, Hydrocephalus, Hypertonia	ORPHA:1895
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor...	OMIM:615441
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Gitelman Syndrome	Hypotension, Chondrocalcinosis, Failure to thrive, Hypomagnesemia, Palpitations, Hypokalemia, Ven...	OMIM:263800
Atrial Standstill 1	Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra...	OMIM:108770
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Difficulty walking, Hypophosphatemia, Hypocalcemia, Failure to thrive	OMIM:600081
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Premature ventricular contraction, Tachycardia, Syncope	OMIM:192445
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Congenital Disorder Of Glycosylation, Type It	Aborted sudden cardiac death, Dilated cardiomyopathy, Recurrent otitis media, Elevated circulatin...	OMIM:614921
Hyperparathyroidism, Neonatal Severe	Elevated circulating parathyroid hormone level, Failure to thrive, Splenomegaly, Hypophosphatemia...	OMIM:239200
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Failure to thrive, Elevated circulating creatine kinase concentration, Intravent...	OMIM:619055
Andersen-Tawil Syndrome	Low-set ears, Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular ext...	ORPHA:37553
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Increased left vent...	OMIM:613424
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Congenital Disorder Of Glycosylation, Type Iic	Recurrent otitis media, Reduction of neutrophil motility, Cellulitis, Neutrophilia	OMIM:266265
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis...	ORPHA:786
Primary Biliary Cholangitis	Hypoalbuminemia, Abnormal circulating lipid concentration, Abnormality of the thyroid gland, Port...	ORPHA:186
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Immunodeficiency 114, Folate-Responsive	Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th...	OMIM:620603
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Broad-based gait, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkinson-White syn...	OMIM:619705
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost...	OMIM:305400
Disabling Pansclerotic Morphea Of Childhood	Elevated circulating C-reactive protein concentration, Lymphopenia, Joint contracture, Neutropenia	OMIM:620443
Cirrhotic Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Congestive heart failure, Elevated...	ORPHA:57777
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Elevated jugular venous pressure, ...	ORPHA:97214
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Weight loss, Elevated circulating C-reactive protein concentration, Abnormal testi...	ORPHA:54251
Immunodeficiency 76	Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia	OMIM:619164
Cocaine Intoxication	Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Tremor, Elevate...	ORPHA:90068
Metaphyseal Chondrodysplasia, Jansen Type	Hearing impairment, Hip contracture, Knee flexion contracture, Hypophosphatemia, Hypoparathyroidi...	OMIM:156400
Autosomal Recessive Malignant Osteopetrosis	Hearing impairment, Optic nerve compression, Splenomegaly, Hypocalcemia, Otitis media, Tremor, Hy...	ORPHA:667
Chronic Atrial And Intestinal Dysrhythmia	Atrial flutter, Failure to thrive, Ventricular escape rhythm, Mitral regurgitation, Decreased bod...	OMIM:616201
Infant Acute Respiratory Distress Syndrome	Tachycardia, Hypotension, Cardiac arrest, Bradycardia	ORPHA:70587
Genitourinary And/Or Brain Malformation Syndrome	Low-set ears, Abnormality of the outer ear, Clitoral hypertrophy, Uterus didelphys, Gonadal dysge...	OMIM:618820
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, ...	OMIM:618775
Fanconi Renotubular Syndrome 5	Hypophosphatemia, Hypophosphatemic rickets, Hypertension	OMIM:618913
Hyperthyroidism, Familial Gestational	Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ...	OMIM:603373
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Ciliary Dyskinesia, Primary, 19	Male infertility, Absent inner and outer dynein arms	OMIM:614935
Jervell And Lange-Nielsen Syndrome 1	Torsade de pointes, Congenital sensorineural hearing impairment, Syncope, Prolonged QT interval, ...	OMIM:220400
Naxos Disease	Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ...	ORPHA:34217
Beta-Thalassemia Intermedia	Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypogonadism, Hepatosp...	ORPHA:231222
Autosomal Dominant Progressive External Ophthalmoplegia	Hearing impairment, Resting tremor, Arrhythmia, Ataxia, Bradykinesia, Goiter, Palpitations, Facia...	ORPHA:254892
Holoprosencephaly 14	Alobar holoprosencephaly, Cerebellar atrophy, Periventricular heterotopia, Hydrocephalus, Partial...	OMIM:619895
Cowden Syndrome 1	Varicocele, Thyroid adenoma, Hearing impairment, Subcutaneous lipoma, Goiter, Lymphopenia, Angioi...	OMIM:158350
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Pulmonary embolism, Hyperlipidemia, Hydrocele testis, Hypertension	ORPHA:567546
Polycythemia Vera	Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer...	OMIM:263300
Sandhoff Disease, Infantile Form	Hepatosplenomegaly, Mitral regurgitation, Exaggerated startle response, Cherry red spot of the ma...	ORPHA:309155
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Retinal degeneration, Arrhythmia, Hypsarrhythmia, Bradycardia, Sick si...	ORPHA:542306
Serotonin Syndrome	Hypotension, Abnormality of the autonomic nervous system, Tremor, Tachycardia, Hypertension	ORPHA:43116
Immunodeficiency 13	Recurrent otitis media, Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positiv...	OMIM:615518
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Optic atrophy, Vasculitis, Dilated cardiomyopathy, Type I diabetes mellitus, Recurrent otitis med...	OMIM:615688
Pseudo-Torch Syndrome 2	Cerebellar hypoplasia, Gray matter heterotopia, Polymicrogyria	OMIM:617397
Short Stature, Microcephaly, And Endocrine Dysfunction	Broad-based gait, Dilated cardiomyopathy, Abnormal circulating lipid concentration, Lymphopenia, ...	OMIM:616541
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Decreased testicular size, Hypoplasia of the ovary, Micropenis, Cerebellar cortica...	OMIM:619321
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Hearing impairment, Abnormal ear morphology, Aplasia of the ovary, Endometriosis, ...	ORPHA:3109
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Low-set ears, Corneal scarring, Bradycardia, Retinal hemorrhage, Tachycardia, Flexion contracture...	OMIM:614653
Periventricular Nodular Heterotopia 7	Periventricular nodular heterotopia, Polymicrogyria, Gray matter heterotopia, Ataxia	OMIM:617201
Cerebrotendinous Xanthomatosis	Optic atrophy, Cholelithiasis, Abnormal auditory evoked potentials, Abnormal motor evoked potenti...	ORPHA:909
Primary Sclerosing Cholangitis	Hypoalbuminemia, Spider hemangioma, Cholelithiasis, Type I diabetes mellitus, Palmar telangiectas...	ORPHA:171
Cryptogenic Organizing Pneumonia	Elevated circulating C-reactive protein concentration, Weight loss, Leukocytosis, Neutrophilia	ORPHA:1302
Tatton-Brown-Rahman Syndrome	Neuroendocrine neoplasm, Umbilical hernia, Tricuspid regurgitation, Obesity, Mitral regurgitation...	ORPHA:404443
Fibrous Dysplasia Of Bone	Precocious puberty in females, Hearing impairment, Increased circulating cortisol level, Difficul...	ORPHA:249
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov...	OMIM:277000
Multiple Mitochondrial Dysfunctions Syndrome 7	EEG with burst suppression, Hyperglycinemia, Lethargy, Hypsarrhythmia, Thrombocytopenia, Exaggera...	OMIM:620423
Sheehan Syndrome	Central adrenal insufficiency, Sensorineural hearing impairment, Decreased serum estradiol, Breas...	ORPHA:91355
Combined Oxidative Phosphorylation Deficiency 58	Low-set ears, Optic atrophy, Difficulty walking, Gait ataxia, Hyperprolinemia, Hyperalaninemia, A...	OMIM:620451
Phoar2-Enteropathy Syndrome	Hypoalbuminemia	OMIM:614441
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Lymphopenia, Abnormal T cell morphology, Autoimmune hemolytic anemia, Sensorineural...	ORPHA:760
Thanatophoric Dysplasia Type 2	Abnormality of neuronal migration, Hydrocephalus, Holoprosencephaly, Encephalocele	ORPHA:93274
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemia, Hypophosphatemic rickets	OMIM:193100
Vici Syndrome	Cerebellar hypoplasia, Gray matter heterotopia, Hypoplasia of the pons	ORPHA:1493
Oculocerebrorenal Syndrome Of Lowe	Cryptorchidism, Hypophosphatemia, Chorioretinal dysplasia, Chronic otitis media, Atypical scarrin...	ORPHA:534
Degcags Syndrome	Low-set ears, Hearing impairment, Hepatosplenomegaly, Pancytopenia, Hyperbilirubinemia, Unilatera...	OMIM:619488
Bardet-Biedl Syndrome	Irregular menstruation, Skeletal muscle atrophy, Aplasia/Hypoplasia of the vagina, Hearing impair...	ORPHA:110
Necrotizing Enterocolitis	Hypotension, Shock, Leukocytosis, Bradycardia, Hyponatremia, Lethargy, Thrombocytopenia, Neutrope...	ORPHA:391673
Neu-Laxova Syndrome	Lissencephaly, Abnormal cortical gyration, Polymicrogyria, Cerebellar hypoplasia, Opisthotonus, A...	ORPHA:2671
Burkitt Lymphoma	Abnormality of the ovary	ORPHA:543
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont...	OMIM:609040
Alg9-Cdg	Low-set ears, Hypoplasia of the musculature, Cerebellar atrophy, Cerebral atrophy, Large fleshy e...	ORPHA:79328
Pgm3-Cdg	Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Conductive hearing impairment, Cutaneo...	ORPHA:443811
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen, Orthostatic hypoten...	OMIM:223900
Lesch-Nyhan Syndrome	Hyperuricemia, Opisthotonus, Megaloblastic anemia, Testicular atrophy, Dystonia, Choreoathetosis	OMIM:300322
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Vasculitis, Hematochezia, Cellulitis, Failure to thrive, Lymphocy...	OMIM:617718
Bloom Syndrome	Azoospermia, Oligozoospermia, Premature ovarian insufficiency, Diabetes mellitus, Male infertility	ORPHA:125
Vici Syndrome	Low-set ears, Dilated cardiomyopathy, Hypopigmentation of the fundus, Cardiomyopathy, Congestive ...	OMIM:242840
Histiocytosis-Lymphadenopathy Plus Syndrome	Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation...	OMIM:602782
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Congestive heart failure, Hypogonadism, Elevated circulating creatin...	ORPHA:85450
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations,...	OMIM:601214
Pmm2-Cdg	Increased circulating prolactin concentration, Hyperinsulinemia, Aplasia of the ovary, Impaired n...	ORPHA:79318
Ogden Syndrome	Low-set ears, Torsade de pointes, Recurrent otitis media, Hyperbilirubinemia, Cryptorchidism, Pre...	OMIM:300855
Glycogen Storage Disease Xv	T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat...	OMIM:613507
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia	ORPHA:348
Carney Triad	Gastrointestinal hemorrhage, Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Arrh...	ORPHA:139411
Legionnaires Disease	Cellulitis, Hypotension, Lymphopenia, Splenomegaly, Hyponatremia, Arrhythmia, Ataxia, Myocarditis...	ORPHA:549
Long Qt Syndrome 2	Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric...	OMIM:613688
6Q Terminal Deletion Syndrome	Polymicrogyria, Periventricular heterotopia, Gait ataxia, Dysmetria, Cerebellar hypoplasia, Abnor...	ORPHA:75857
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, Reduced haptoglobin level...	OMIM:301110
Cardiomyopathy, Familial Hypertrophic, 17	Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Ventricular tachycardia, Atrial fibri...	OMIM:613873
Cushing Disease	Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Capillary fr...	ORPHA:96253
Carnitine Palmitoyltransferase Ii Deficiency	Cerebellar vermis hypoplasia, Polymicrogyria, Abnormality of neuronal migration, Hydrocephalus, P...	ORPHA:157
Fanconi-Bickel Syndrome	Hypouricemia, Failure to thrive, Hyperbilirubinemia, Reduced subcutaneous adipose tissue, Increas...	OMIM:227810
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block	OMIM:615616
Glycine Encephalopathy With Normal Serum Glycine	Low-set ears, Optic atrophy, Elbow flexion contracture, Hip contracture, Exaggerated startle resp...	OMIM:617301
Parathyroid Carcinoma	Chondrocalcinosis, Elevated circulating parathyroid hormone level, Parathyroid carcinoma, Shorten...	ORPHA:143
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Hemolytic anemia, Thrombocytopenia, Genital ulcers	OMIM:616744
Fanconi Anemia, Complementation Group A	Hearing impairment, Male infertility, Cryptorchidism, Prolonged G2 phase of cell cycle, Hypergona...	OMIM:227650
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Leukocytosis,...	OMIM:603903
Stiff Person Spectrum Disorder	Falls, Difficulty walking, Hypothyroidism, Exaggerated startle response, Diabetes mellitus	ORPHA:3198
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Infantile Nephropathic Cystinosis	Pigmentary retinopathy, Failure to thrive, Abnormality of thyroid physiology, Hypokalemia, Hypoph...	ORPHA:411629
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Hypotension, Oculogyric crisis, Limb dystonia, Lethargy, Limb tremor, Torticollis,...	OMIM:608643
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration	ORPHA:2204
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Absent extraocular muscles, Abnormal auditory evoked potentials, Sensorineural hearing impairment	OMIM:109120
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Optic atrophy, Lymphopenia, Dysmetria, Knee flexion contracture, Head titubation, Ataxia, Dystoni...	OMIM:619708
Porphyria, Acute Intermittent	Tachycardia, Hypertension, Reduced erythrocyte porphobilinogen deaminase activity	OMIM:176000
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport...	ORPHA:3261
Asparagine Synthetase Deficiency	Hypoasparaginemia, Failure to thrive, EEG with burst suppression, Tremor, Simple ear, Hypsarrhyth...	OMIM:615574
Trisomy 10P	Low-set ears, Abnormal auditory evoked potentials, Decreased muscle mass, EEG with burst suppress...	ORPHA:171929
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Lymphocytosis, Weight loss, Myocarditis, Cardiac arrest, Thyroiditis	ORPHA:139402
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen...	ORPHA:232
Schimke Immuno-Osseous Dysplasia	Abnormal proportion of naive CD4 T cells, Failure to thrive, Congestive heart failure, Lymphopeni...	ORPHA:1830
Wolff-Parkinson-White Syndrome	Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR...	OMIM:194200
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Chondrocalcinosis, Multiple lipomas, Hypophosphatemia, Hypercalcemia, Primary hy...	OMIM:600740
Sarcoidosis	Abnormal reproductive system morphology, Arrhythmia, Weight loss, Heart block, Enlargement of par...	ORPHA:797
Tetrasomy 18P	Abnormality of neuronal migration, Gait disturbance	ORPHA:3307
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Umbilical hernia, Lymphopenia, Eosinophilia...	OMIM:617237
Atrial Septal Defect, Ostium Secundum Type	Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun...	ORPHA:99103
Acute Intermittent Porphyria	Hyponatremia, Tachycardia, Hypertension, Tremor	ORPHA:79276
Gm1 Gangliosidosis Type 1	Low-set ears, Abnormal odontoid tissue morphology, Hearing impairment, Cardiomyopathy, Cherry red...	ORPHA:79255
Immunodeficiency 92	Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell...	OMIM:619652
Combined Immunodeficiency Due To Zap70 Deficiency	Failure to thrive, Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune h...	ORPHA:911
Schimke Immunoosseous Dysplasia	Elevated circulating thyroid-stimulating hormone concentration, Bilateral cryptorchidism, Lymphop...	OMIM:242900
Brugada Syndrome 8	ST segment elevation, Ventricular tachycardia, Right bundle branch block	OMIM:613123
Fanconi Anemia	Abnormality of the uterus, Hypogonadism, Azoospermia, Cryptorchidism, Absent testis, Abnormal tes...	ORPHA:84
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Spasticity, Occipital encephalocele, Type II lissencephaly, Communicating hydrocephalus, Cerebell...	OMIM:615287
Hyperparathyroidism-Jaw Tumor Syndrome	Chondrocalcinosis, Elevated circulating parathyroid hormone level, Shortened QT interval, Pancrea...	ORPHA:99880
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Diffuse Cutaneous Mastocytosis	Hypotension, Gastrointestinal hemorrhage, Abnormality of the spleen, Lymphocytosis, Myeloprolifer...	ORPHA:79456
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Elevated circulating parathyroid hormone level, Hypophosphatemic rickets, Pa...	OMIM:612089
Galloway-Mowat Syndrome	Hemiplegia/hemiparesis, Abnormality of neuronal migration, Hypertonia, Pachygyria, Aqueductal ste...	ORPHA:2065
Jervell And Lange-Nielsen Syndrome 2	Torsade de pointes, Congenital sensorineural hearing impairment, Premature ventricular contractio...	OMIM:612347
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, D...	OMIM:619846
Steinert Myotonic Dystrophy	Hyperinsulinemia, Decreased fertility, Prolonged PR interval, Secondary hyperparathyroidism, Male...	ORPHA:273
Long Qt Syndrome 6	Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio...	OMIM:613693
Sick Sinus Syndrome 2	Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync...	OMIM:163800
Congenital Disorder Of Deglycosylation 2	Gray matter heterotopia, Cerebellar vermis hypoplasia, Polymicrogyria	OMIM:619775
Desmosterolosis	Spasticity, Abnormal cortical gyration, Polymicrogyria, Rigidity, Abnormality of neuronal migrati...	ORPHA:35107
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Pachygyria	ORPHA:2512
Gm2 Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response, Cherry red spot of the macula	ORPHA:309246
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Premature ovarian insufficiency, Lymphopenia, Macrotia	ORPHA:391307
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Hearing impairment, Umbilical hernia, Thrombocytopenia, Ventricular arrhyt...	OMIM:620475
Long Qt Syndrome 9	Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi...	OMIM:611818
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Anoperineal fistula, P...	OMIM:301074
Plaa-Associated Neurodevelopmental Disorder	Optic atrophy, Failure to thrive, Contractures of the large joints, Low-set, posteriorly rotated ...	ORPHA:521426
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Failure to thrive in i...	OMIM:619510
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Large for gestational age, Hypophosphatemia, Diabetes mellitus	OMIM:616026
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Lethargy	OMIM:229700
Adult-Onset Still Disease	Neutrophilia, Abnormal circulating lipid concentration, Increased circulating ferritin concentrat...	ORPHA:829
3C Syndrome	Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Dandy-Wal...	ORPHA:7
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Tremor, Abnormality of neuronal migration, Gait disturbance, Ataxia	ORPHA:2754
Oncogenic Osteomalacia	Hypophosphatemia, Gait disturbance, Hypocalcemia	ORPHA:352540
Aprosencephaly And Cerebellar Dysgenesis	Cerebellar dysplasia, Aprosencephaly, Poorly formed metencephalon	OMIM:601374
Sting-Associated Vasculopathy, Infantile-Onset	Failure to thrive, Lymphopenia, Leukopenia, Telangiectasia, Raynaud phenomenon, Elevated circulat...	OMIM:615934
Trichothiodystrophy 3, Photosensitive	Low-set ears, Failure to thrive, Hearing impairment, Bilateral cryptorchidism, Lymphopenia, Neutr...	OMIM:616395
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Cerebellar vermis hypoplasia, Spastic tetraplegia, Hypertonia, Pachygyria, Gray matter heterotopi...	OMIM:620024
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Polymicrogyria, Periventricular heterotop...	ORPHA:468631
Psoriasis 14, Pustular	Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia	OMIM:614204
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Hearing impairment, Cryptorchidism, Tremor, Exaggerated startle response, Limb joint contracture	OMIM:620327
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia, Spasticity	OMIM:619694
Congenitally Corrected Transposition Of The Great Arteries	Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg...	ORPHA:216694
Hyperekplexia-Epilepsy Syndrome	EEG with temporal focal spikes, Exaggerated startle response	ORPHA:163985
Pheochromocytoma/Paraganglioma Syndrome 4	Chemodectoma, Palpitations, Hypertension associated with pheochromocytoma, Adrenal pheochromocyto...	OMIM:115310
Fanconi-Bickel Syndrome	Hypophosphatemia, Diabetes mellitus, Failure to thrive, Hypertriglyceridemia	ORPHA:2088
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Japanese Encephalitis	Decreased motor nerve conduction velocity, Pill-rolling tremor, Elbow flexion contracture, EEG wi...	ORPHA:79139
Lujo Hemorrhagic Fever	Hypotension, Resting tremor, Shock, Lymphopenia, Leukopenia, Leukocytosis, Elevated circulating C...	ORPHA:319213
Developmental And Epileptic Encephalopathy 68	Flexion contracture, Failure to thrive, Exaggerated startle response	OMIM:618201
Legius Syndrome	Acute monocytic leukemia, Hearing impairment, Male urethral meatus stenosis, Vestibular schwannom...	ORPHA:137605
X-Linked Intellectual Disability, Snyder Type	Low-set ears, Abnormality of the Leydig cells, Cupped ear, Decreased muscle mass, Asymmetry of th...	ORPHA:3063
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Hypothyroidism, Neut...	OMIM:618849
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia	OMIM:134600
Juvenile Nephropathic Cystinosis	Hypouricemia, Failure to thrive, Elevated circulating creatinine concentration, Hypocalcemic teta...	ORPHA:411634
Schinzel-Giedion Syndrome	Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Cerebral cortical atrophy,...	ORPHA:798
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Hearing impairment, Exaggerated startle response	OMIM:620114
Coffin-Lowry Syndrome	Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum, Gait disturbance, Hypert...	ORPHA:192
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi...	OMIM:115000
Fanconi Renotubular Syndrome 2	Hypophosphatemia, Elevated circulating parathyroid hormone level	OMIM:613388
Sweet Syndrome	Dilated cardiomyopathy, Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Elevate...	ORPHA:3243
Long Qt Syndrome 1	Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat...	OMIM:192500
Biliary, Renal, Neurologic, And Skeletal Syndrome	Low-set ears, Hearing impairment, Hyperbilirubinemia, Anterior pituitary hypoplasia, Bile duct pr...	OMIM:619534
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Low-set ears, Optic atrophy, Failure to thrive, Contractures of the large joints, Congenital hypo...	OMIM:617527
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Hypophosphatemia	OMIM:605911
Developmental And Epileptic Encephalopathy 49	Optic atrophy, EEG abnormality, Macrotia, Exaggerated startle response	OMIM:617281
Proteasome-Associated Autoinflammatory Syndrome 3	Failure to thrive, Lymphopenia, Splenomegaly, Lipodystrophy, Thrombocytopenia, Hypertriglyceridem...	OMIM:617591
Immunodeficiency 23	Conductive hearing impairment, Failure to thrive, Lymphopenia, Abscess, Sensorineural hearing imp...	OMIM:615816
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Hearing impairment, Congestive heart failure, Tricuspid regurgitation, Lymphopenia, Leukopenia, N...	ORPHA:508542
Hyperekplexia 3	Hiatus hernia, Syncope, Exaggerated startle response	OMIM:614618
Familial Short Qt Syndrome	Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar...	ORPHA:51083
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Syncope, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:615821
Orofaciodigital Syndrome Xvi	Inability to walk, Oculomotor apraxia, Gray matter heterotopia, Ataxia	OMIM:617563
Acute Panmyelosis With Myelofibrosis	Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute myeloid leukemia, Lymphocytosis	ORPHA:86843
Cyclic Neutropenia	Cellulitis, Lymphopenia, Cyclic neutropenia, Otitis media, Perianal abscess, Tooth abscess, Throm...	ORPHA:2686
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Failure to thrive secondary to recurrent infections, Lymphopenia, Hepatosplenomegaly, Otitis medi...	ORPHA:169160
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cerebellar vermis hypoplasia, Polymicrogyria, Abnormality of neuronal migration, Hydrocephalus, P...	ORPHA:228308
Bardet-Biedl Syndrome 1	Hearing impairment, Abnormality of the ovary, Decreased testicular size, Hypogonadism, Aganglioni...	OMIM:209900
Thanatophoric Dysplasia	Gray matter heterotopia, Hydrocephalus	ORPHA:2655
Immunodeficiency 9	Failure to thrive, Difficulty walking, Lymphopenia, Hypoplasia of the thymus, Amelogenesis imperf...	OMIM:612782
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Failure to thrive, Lymphopenia, Hepatosplenomegaly, Decreased proportion o...	ORPHA:331206
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemia, Hypophosphatemic rickets	OMIM:300554
Cerebrofacioarticular Syndrome	Gray matter heterotopia, Cerebellar vermis hypoplasia, Ataxia	ORPHA:314679
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Ankle flexion contracture, Camptodactyly of finger, Contracture of the distal interphalangeal joi...	OMIM:617072
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Dilated cardiomyopathy, Failure to thrive, Histiocytoid cardiomyopath...	OMIM:300952
Hypoplasminogenemia	Abnormality of the ovary, Abnormality of the middle ear, Abnormal fallopian tube morphology, Cerv...	ORPHA:722
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Arrhythmia, Abnor...	ORPHA:906
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Low-set ears, Retinal coloboma, Recurrent otitis media, Lymphopenia, Pancytopenia, Leukopenia, Un...	OMIM:620654
Mirizzi Syndrome	Cholelithiasis, Hyperbilirubinemia, Gallbladder perforation, Abnormal ductus choledochus morpholo...	ORPHA:521219
Macrocephaly/Autism Syndrome	Recurrent otitis media, Lymphopenia, Obesity, Large for gestational age, Penile freckling, Spleno...	OMIM:605309
Alport Syndrome 3A, Autosomal Dominant	Hearing impairment, Sensorineural hearing impairment, Hypophosphatemia, Azotemia, Hypertension	OMIM:104200
Tay-Sachs Disease	Exaggerated startle response, Cherry red spot of the macula	OMIM:272800
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Hydrocephalus, Gray matter heterotopia, Communicating hydrocephalus, Lissencephaly, Simplified gy...	OMIM:615219
Ciliary Dyskinesia, Primary, 1	Conductive hearing impairment, Chronic otitis media, Absent outer dynein arms, Male infertility	OMIM:244400
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Hereditary Fructose Intolerance	Hypermagnesemia, Lethargy, Hypophosphatemia, Hyperuricemia	ORPHA:469
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Gait ataxia, Tremor, Dysmetria, Exaggerated startle response	OMIM:618056
Alg11-Cdg	Opisthotonus, Limb hypertonia, Hypertonia, Ataxia, Gray matter heterotopia	ORPHA:280071
Raine Syndrome	Low-set ears, Arthrogryposis multiplex congenita, Protruding ear, Hypophosphatemia, Enamel hypopl...	OMIM:259775
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Genital ulcers, Failure to thrive, Lymphope...	OMIM:602450
Kikuchi-Fujimoto Disease	Vasculitis, Leukopenia, Enlargement of parotid gland, Splenomegaly, Myocarditis, Lymphocytosis, W...	ORPHA:50918
Familial Mediterranean Fever	Leukocytosis, Splenomegaly, Orchitis, Elevated circulating amyloid A concentration, Neutrophilia,...	OMIM:249100
Brucellosis	Arteritis, Hypersplenism, Weight loss, Elevated circulating C-reactive protein concentration, Epi...	ORPHA:1304
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Ventricular bigeminy, Failure to thrive, Elevated circulating creatine kinase concentration, Arrh...	OMIM:610131
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Ataxia, Broad-based gait, Exaggerated startle response, Dystonia, Abnormal pinna morphology	ORPHA:438216
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Low-set ears, Conductive hearing impairment, Arrhythmia, Paroxysmal supraventricular tachycardia,...	OMIM:617877
Linear Skin Defects With Multiple Congenital Anomalies 1	Junctional ectopic tachycardia, Pigmentary retinopathy, Clitoral hypertrophy, Hearing impairment,...	OMIM:309801
Atrial Standstill 2	Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr...	OMIM:615745
Turner Syndrome Due To Structural X Chromosome Anomalies	Low-set ears, Female infertility, Hearing impairment, Abnormality of the ovary, Recurrent otitis ...	ORPHA:99413
Mosaic Monosomy X	Low-set ears, Female infertility, Hearing impairment, Abnormality of the ovary, Recurrent otitis ...	ORPHA:99228
Monosomy X	Low-set ears, Female infertility, Hearing impairment, Abnormality of the ovary, Recurrent otitis ...	ORPHA:99226
Turner Syndrome	Low-set ears, Female infertility, Hearing impairment, Abnormality of the ovary, Recurrent otitis ...	ORPHA:881
Mend Syndrome	Low-set ears, Abnormal auditory evoked potentials, Limb hypertonia, Cryptorchidism	ORPHA:401973
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
Long Qt Syndrome 5	Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P...	OMIM:613695
Fusariosis	Cellulitis, Granuloma, Brain abscess, Fasciitis, Abnormality of the spleen, Lymphopenia, Lung abs...	ORPHA:228119
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel...	OMIM:616005
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal cortical gyration, Polymicrogyria, Encephalocele, Exencephaly, Abnormality of neuronal m...	ORPHA:2211
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hematochezia, Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Hypoplasia of the thymus, E...	OMIM:243150
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Failure ...	ORPHA:276
Opsismodysplasia	Low-set ears, Hypophosphatemia, Posteriorly rotated ears	OMIM:258480
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ...	OMIM:611878
Cardiomyopathy, Dilated, 1S	Dilated cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Reduced left ventricul...	OMIM:613426
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dilated cardiomyopathy, Ventricular bigeminy, Failure to thrive, Tricuspid regurgitation, Left ve...	OMIM:620519
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Type I diabetes mellitus, Lymphopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia, Anemia	OMIM:620365
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Precocious puberty, Decreased circulating iron concentration, Broad-based gait, Increased circula...	ORPHA:438213
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level...	ORPHA:1359
Cardiomyopathy, Dilated, 1Nn	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit...	OMIM:615916
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Hepatosplen...	OMIM:242700
Down Syndrome	Conductive hearing impairment, Polycythemia, Umbilical hernia, Obesity, Decreased fertility, Type...	ORPHA:870
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Hereditary Chronic Pancreatitis	Elevated circulating C-reactive protein concentration, Pancreatic calcification, Leukocytosis, Di...	ORPHA:676
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Failure to thrive in infancy, Splenomegaly, Abscess, Neutrophilia, Elevated circulating C-reactiv...	OMIM:612852
Dent Disease 1	Hypophosphatemia	OMIM:300009
X-Linked Hypophosphatemia	Cellulitis, Sensorineural hearing impairment, Hypophosphatemia, Tooth abscess, Enthesitis, Odonto...	ORPHA:89936
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Lymphopenia, Leukopenia, Lethargy, Thrombocytopenia, Melena	ORPHA:319218
Arima Syndrome	Cerebellar vermis hypoplasia, Dilated fourth ventricle, Ataxia, Gray matter heterotopia, Agenesis...	OMIM:243910
Icf Syndrome	Low-set ears, Umbilical hernia, Lymphopenia, Anemia, Abnormality of neutrophils	ORPHA:2268
Khan-Khan-Katsanis Syndrome	Pigmentary retinopathy, Failure to thrive, Tricuspid regurgitation, Lymphopenia, Corneal scarring...	OMIM:618460
Cardiac Diverticulum	Aortic valve stenosis, Congestive heart failure, Abnormal EKG, Umbilical hernia, Palpitations, Mi...	ORPHA:1686
Hyperekplexia 2	Hiatus hernia, Exaggerated startle response	OMIM:614619
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration	ORPHA:44
Cardiac-Urogenital Syndrome	Accessory spleen, Bifid scrotum, Unilateral cryptorchidism, Congenital diaphragmatic hernia, Cryp...	OMIM:618280
Hyper-Igd Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Rod-cone dystrophy, Neutrophilia, Optic disc pallor	OMIM:260920
Radio-Tartaglia Syndrome	Gray matter heterotopia, Gait imbalance, Tremor, Ataxia	OMIM:619312
Hyperekplexia 1	Umbilical hernia, Inguinal hernia, Exaggerated startle response	OMIM:149400
Sick Sinus Syndrome 1	Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT...	OMIM:608567
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Dilated cardiomyopathy, Failure to thrive, Ventricular tachycardia, Congestive heart failure	OMIM:605676
Acute Radiation Syndrome	Hypotension, Lymphopenia, Telangiectasia, Thrombocytopenia, Granulocytopenia	ORPHA:454831
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Failure to thrive, Hyperbilirubinemia, Hyperuricemia, Lethargy, Hypo...	OMIM:229600
Leukocyte Adhesion Deficiency Type Ii	Ataxia, Small for gestational age, Conductive hearing impairment, Failure to thrive, Umbilical he...	ORPHA:99843
Holoprosencephaly	Spasticity, Spinal dysraphism, Chorea, Encephalocele, Abnormality of neuronal migration, Aplasia/...	ORPHA:2162
Long Qt Syndrome 12	Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval	OMIM:612955
16P13.11 Microdeletion Syndrome	Abnormality of neuronal migration, Holoprosencephaly, Hypertonia	ORPHA:261236
Autosomal Recessive Hypophosphatemic Rickets	Renal hypophosphatemia, Hypophosphatemic rickets, Sensorineural hearing impairment, Tooth abscess...	ORPHA:289176
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia, Hydrocephalus	OMIM:219730
Cushing Syndrome Due To Ectopic Acth Secretion	Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Capillary fr...	ORPHA:99889
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Thanatophoric Dysplasia, Type I	Gray matter heterotopia, Hydrocephalus	OMIM:187600
Cardiomyopathy, Dilated, 1Oo	Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l...	OMIM:620247
Yellow Fever	Neutrophilia, Pancreatic hyperplasia, Shock, Reduced left ventricular ejection fraction, Elevated...	ORPHA:99829
Immunodeficiency 87 And Autoimmunity	Dilated cardiomyopathy, Third degree atrioventricular block, Lymphopenia, Decreased CD4:CD8 ratio...	OMIM:619573
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia	OMIM:619767
Brugada Syndrome 3	Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi...	OMIM:611875
Developmental And Epileptic Encephalopathy 111	Low-set ears, Sinus tachycardia, Umbilical hernia, Inguinal hernia, Cryptorchidism, Premature ven...	OMIM:620504
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Cholelithiasis, Delayed puberty, Azoospermia	ORPHA:2072
Absence Of The Pulmonary Artery	Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventricular ejection fractio...	ORPHA:980
Aicardi Syndrome	Cerebellar vermis hypoplasia, Chiari malformation, Polymicrogyria, Spina bifida, Pachygyria, Gray...	OMIM:304050
Thanatophoric Dysplasia Type 1	Gray matter heterotopia, Hydrocephalus	ORPHA:1860
Marfan Syndrome	Aortic regurgitation, Congestive heart failure, Slender build, Mitral regurgitation, Inguinal her...	ORPHA:558
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Increased mean corpuscular volume, Budd-Chiari syndrome, Lymphopenia, Leukopenia...	OMIM:127550
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Chondrocalcinosis, Lipoma, Hypocalcemic seizures, Hyperc...	ORPHA:405
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Failure to thrive, Lymphopenia, Autoimmune hemolytic anemia, Splenome...	OMIM:102700
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Primary Fanconi Renotubular Syndrome	Hypouricemia, Decreased circulating carnitine concentration, Hypophosphatemic rickets, Hypokalemi...	ORPHA:3337
Whim Syndrome	Cellulitis, Parotitis, Abnormal neutrophil morphology, Lymphopenia, Limb ataxia, Otitis media, Ne...	ORPHA:51636
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Ventricular Fibrillation, Paroxysmal Familial, 2	Premature ventricular contraction, Sudden cardiac death, Ventricular fibrillation	OMIM:612956
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Absent natural killer cells, Rectovaginal fistula, Failure to thrive in infancy, Lymphopenia, Hep...	ORPHA:35078
Idiopathic Hypereosinophilic Syndrome	Dilated cardiomyopathy, Pulmonary embolism, Failure to thrive, Congestive heart failure, Hepatosp...	ORPHA:3260
Scalp-Ear-Nipple Syndrome	Low-set ears, Cupped ear, Congestive heart failure, Breast aplasia, Underdeveloped tragus, Suprav...	OMIM:181270
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent natural killer cells, Failure to thrive, Recurrent otitis media, Lymphopenia, Impaired lym...	OMIM:600802
Gm2-Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	OMIM:272750
Pneumocystosis	Abnormal neutrophil count, Weight loss	ORPHA:723
Plague	Hypotension, Hearing impairment, Splenomegaly, Arrhythmia, Hematemesis, Tachycardia, Unsteady gait	ORPHA:707
Acute Generalized Exanthematous Pustulosis	Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia	ORPHA:293173
9Q21.13 Microdeletion Syndrome	Difficulty walking, Gray matter heterotopia	ORPHA:531151
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Type I diabetes mellitus, Congestive heart failure, Lymphopenia, Hepatosplenomegaly, Autoimmune h...	ORPHA:391487
Syndromic Diarrhea	Aortic regurgitation, Lymphopenia, Splenomegaly, Inguinal hernia, Hypoplasia of the thymus, Hypot...	ORPHA:84064
Dent Disease	Renal hypophosphatemia, Elevated circulating creatine kinase concentration	ORPHA:1652
Bohring-Opitz Syndrome	Gray matter heterotopia, Dandy-Walker malformation	OMIM:605039
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Epistaxis, Decreased proportion of CD8-positive T cells, Lymphope...	OMIM:301000
Orofaciodigital Syndrome I	Abnormal cortical gyration, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Cerebellar ...	OMIM:311200
Van Maldergem Syndrome 1	Periventricular nodular heterotopia, Pachygyria, Gray matter heterotopia, Subcortical band hetero...	OMIM:601390
Common Variable Immunodeficiency	Vasculitis, Failure to thrive in infancy, Lymphopenia, Splenomegaly, Otitis media, Autoimmune thr...	ORPHA:1572
Charge Syndrome	Low-set ears, Lymphopenia, Cryptorchidism, Sensorineural hearing impairment, Hypoparathyroidism, ...	OMIM:214800
Cystic Fibrosis	Exocrine pancreatic insufficiency, Absent vas deferens, Hearing impairment, Male infertility	ORPHA:586
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia, Macrotia	OMIM:614748
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia, Spasticity	OMIM:618797
Primary Sjögren Syndrome	Normocytic anemia, Vasculitis, Thyroiditis, Arteritis, Parotitis, Lymphopenia, Leukopenia, Decrea...	ORPHA:289390
Reynolds Syndrome	Gastrointestinal hemorrhage, Palmar telangiectasia, Lymphopenia, Hyperbilirubinemia, Splenomegaly...	OMIM:613471
Marshall-Smith Syndrome	Low-set ears, Bilateral conductive hearing impairment, Hearing impairment, Failure to thrive, Umb...	OMIM:602535
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration	ORPHA:2063
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Premature ventricular contraction, Heart block	ORPHA:1964
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho...	OMIM:108950
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Abnormality of neuronal migration, Polymicrogyria	OMIM:608836
Truncus Arteriosus	Aortic regurgitation, Abnormal heart valve physiology, Hypoplasia of the thymus, Adrenocortical a...	ORPHA:3384
Orofaciodigital Syndrome Xiv	Cerebellar vermis hypoplasia, Occipital encephalocele, Polymicrogyria, Periventricular heterotopi...	OMIM:615948
Noonan Syndrome 1	Low-set ears, Hearing impairment, Hypogonadism, Cryptorchidism, Sensorineural hearing impairment,...	OMIM:163950
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Anemia, Aganglionic megacolon, Lymphopenia, Inguinal hernia	ORPHA:935
Acromelic Frontonasal Dysostosis	Gray matter heterotopia, Periventricular nodular heterotopia, Retrocerebellar cyst, Encephalocele	OMIM:603671
Miller-Dieker Lissencephaly Syndrome	Progressive spastic paraplegia, Pachygyria, Gray matter heterotopia, Agyria, Lissencephaly	OMIM:247200
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Neutropenia	OMIM:617827
Multiple Acyl-Coa Dehydrogenase Deficiency	Inability to walk, Gray matter heterotopia	ORPHA:26791
Peroxisome Biogenesis Disorder 1A (Zellweger)	Polymicrogyria, Loss of ambulation, Gray matter heterotopia, Unsteady gait, Frequent falls	OMIM:214100
Peroxisome Biogenesis Disorder 13A (Zellweger)	Gray matter heterotopia, Polymicrogyria	OMIM:614887
Opitz-Kaveggia Syndrome	Gray matter heterotopia, Spasticity, Hydrocephalus	OMIM:305450
Ebstein Anomaly	Atrial standstill, Right bundle branch block, Ventricular preexcitation, Atrial fibrillation, Sud...	OMIM:224700
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Congestive heart failure, Inability to walk, Tricuspid regurgitation, Mitra...	OMIM:620066
Van Maldergem Syndrome 2	Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia	OMIM:615546
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Abnormal cortical gyration, Polymicrogyria, Pachygyria, Microlissen...	OMIM:210710
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Low-set ears, Hypospadias, Hematocolpos, Imperforate hymen, Cryptorchidism, Chordee, Exaggerated ...	OMIM:619522
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Abnormality of neuronal migration, Holoprosencephaly	ORPHA:3186
Periventricular Nodular Heterotopia 9	Gray matter heterotopia, Periventricular nodular heterotopia, Broad-based gait, Polymicrogyria	OMIM:618918
Pagod Syndrome	Abnormality of neuronal migration, Meningocele, Encephalocele, Spina bifida	ORPHA:991
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response, EEG with generalized slow activity	OMIM:618367
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Gray matter heterotopia, Impaired pain sensation	ORPHA:453499
Hydrolethalus Syndrome 1	Abnormal cortical gyration, Gray matter heterotopia, Anencephaly, Dandy-Walker malformation, Seve...	OMIM:236680
Fontaine Progeroid Syndrome	Cerebellar vermis hypoplasia, Periventricular heterotopia, Cerebellar hypoplasia, Hydrocephalus, ...	OMIM:612289
Koolen-De Vries Syndrome	Gray matter heterotopia	OMIM:610443
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Abnormality of neuronal migration, Gait disturbance	ORPHA:464311
Cystic Fibrosis	Male infertility	OMIM:219700
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Inability to walk, Gray matter heterotopia, Impaired pain sensation	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Inability to walk, Gray matter heterotopia, Impaired pain sensation	ORPHA:352665
Holt-Oram Syndrome	Tricuspid regurgitation, Left ventricular noncompaction cardiomyopathy, Atrioventricular dissocia...	OMIM:142900
Congenital Total Pulmonary Venous Return Anomaly	Right ventricular failure, Tricuspid regurgitation, Mitral regurgitation, Pulmonary arterial hype...	ORPHA:99125
Nijmegen Breakage Syndrome	Abnormality of neuronal migration	ORPHA:647
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia	OMIM:276300
Proteus Syndrome	Gray matter heterotopia	ORPHA:744

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 Sun1

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 Sun1.

No publications found that use IMPC mice or data for Sun1.

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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
Sun1^{tm43601(L1L2_gt2)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Sun1^{tm2a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Sun1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Sun1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Sun1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Sun1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Sun1^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Sun1 MGI:1924303

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Immunophenotyping

Immunophenotyping

Human diseases caused by Sun1 mutations

Histopathology

IMPC related publications

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