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Gene: Myo7a MGI:104510

Gene Summary

Name:

myosin VIIA

Synonyms:

Hdb, nmf371, polka, Myo7, USH1B

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
decreased bone mineral density	Myo7a^Hdb	HOM	Early adult	1.82×10^-05
absent pinna reflex	Myo7a^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.05×10^-18
trunk curl	Myo7a^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	7.01×10^-20
increased lean body mass	Myo7a^Hdb	HOM	Early adult	1.47×10^-11
persistence of hyaloid vascular system	Myo7a^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.21×10^-05
decreased body length	Myo7a^Hdb	HOM	Early adult	5.57×10^-07
stereotypic behavior	Myo7a^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.56×10^-16
abnormal behavior	Myo7a^Hdb	HOM	Early adult	2.55×10^-05
decreased body weight	Myo7a^Hdb	HOM	Early adult	4.31×10^-34
decreased lean body mass	Myo7a^Hdb	HOM	Early adult	1.24×10^-07
abnormal locomotor activation	Myo7a^Hdb	HOM	Early adult	5.49×10^-07
increased thermal nociceptive threshold	Myo7a^Hdb	HOM	Early adult	9.18×10^-06
increased total body fat amount	Myo7a^Hdb	HOM	Early adult	6.16×10^-16
increased circulating sodium level	Myo7a^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	8.21×10^-06
abnormal bone mineralization	Myo7a^Hdb	HOM	Early adult	1.80×10^-11
increased blood urea nitrogen level	Myo7a^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	9.22×10^-05
increased bone mineral content	Myo7a^Hdb	HOM	Early adult	2.49×10^-07
impaired righting response	Myo7a^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.38×10^-08

Download data as: TSV XLS

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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Legacy Phenotype Associated Images

Myo7a^Hdb
head, HOM, Female, WTSI

Myo7a^Hdb
forearm, HOM, Female, WTSI

Myo7a^Hdb
body, HOM, Female, WTSI

Myo7a^Hdb
body, WT, Female, WTSI

View all 478 images

Myo7a^Hdb
tail skin, HOM, Female, WTSI

Myo7a^Hdb
tail skin, WT, Female, WTSI

Myo7a^Hdb
tail skin, HOM, Female, WTSI

Myo7a^sh1-6J
abnormal sebaceous gland morphology, HET, Female, WTSI

View all 9 images

Myo7a^Hdb
eye, cataracts, HOM, Female, WTSI

Myo7a^sh1-6J
eye, corneal opacity, HOM, Female, WTSI

Myo7a^{tm1a(EUCOMM)Wtsi}
persistence of hyaloid vascular system, HOM, Female, WTSI

Myo7a^{tm1a(EUCOMM)Wtsi}
right eye, HOM, Female, WTSI

View all 8 images

Myo7a^sh1-6J
back skin, HET, Female, WTSI

Myo7a^sh1-6J
back skin, HOM, Female, WTSI

Myo7a^sh1-6J
back skin, HET, Female, WTSI

Myo7a^sh1-6J
back skin, HOM, Female, WTSI

View all 7 images

Myo7a^{tm1a(EUCOMM)Wtsi}
paw, HOM, Female, WTSI

Human diseases caused by Myo7a 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 Myo7a (5 diseases)
Human diseases predicted to be associated with Myo7a (1710 diseases)

The table below shows human diseases associated to Myo7a by orthology or direct annotation.

Disease	Matching phenotypes	Source
Deafness, Autosomal Recessive 2	Abnormal vestibular function, Vertigo, Sensorineural hearing impairment	OMIM:600060
Deafness, Autosomal Dominant 11	Abnormal vestibular function, Vertigo, Bilateral sensorineural hearing impairment	OMIM:601317
Usher Syndrome Type 1	Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrophy, Vest...	ORPHA:231169
Usher Syndrome, Type I	Sensorineural hearing impairment, Rod-cone dystrophy, Absent vestibular function	OMIM:276900
Usher Syndrome Type 2	Sensorineural hearing impairment, Abnormality of the inner ear, Cerebral cortical atrophy, Subcor...	ORPHA:231178

The table below shows human diseases predicted to be associated to Myo7a by phenotypic similarity.

Disease	Matching phenotypes	Source
Deafness, Aminoglycoside-Induced	Aminoglycoside-induced hearing loss	OMIM:580000
Deafness, Autosomal Dominant 17	High-frequency hearing impairment	OMIM:603622
Deafness, Autosomal Dominant 7	High-frequency hearing impairment	OMIM:601412
Deafness, Autosomal Dominant 2B	High-frequency hearing impairment	OMIM:612644
Deafness, Autosomal Recessive 33	Hearing impairment	OMIM:607239
Deafness, Autosomal Recessive 91	Progressive hearing impairment	OMIM:613453
Deafness, Autosomal Dominant 54	Hearing impairment	OMIM:615649
Deafness, Autosomal Dominant 52	Hearing impairment	OMIM:607683
Deafness, Autosomal Recessive 65	Hearing impairment	OMIM:610248
Deafness, Autosomal Recessive 86	Hearing impairment	OMIM:614617
Deafness, Autosomal Dominant 24	Hearing impairment	OMIM:606282
Deafness, Autosomal Recessive 6	Hearing impairment	OMIM:600971
Deafness, Autosomal Recessive 102	Profound hearing impairment	OMIM:615974
Tune Deafness	Hearing impairment	OMIM:191200
Deafness, Autosomal Recessive 106	Hearing impairment	OMIM:617637
Deafness, Autosomal Recessive 107	Hearing impairment	OMIM:617639
Deafness, Autosomal Dominant 15	Hearing impairment	OMIM:602459
Deafness, Autosomal Dominant 89	Hearing impairment	OMIM:620284
Deafness, Autosomal Dominant 88	Hearing impairment	OMIM:620283
Deafness, Autosomal Dominant 51	Hearing impairment	OMIM:613558
Deafness, Autosomal Recessive 96	Hearing impairment	OMIM:614414
Deafness, Autosomal Recessive 93	Hearing impairment	OMIM:614899
Deafness, Autosomal Dominant 18	Progressive hearing impairment	OMIM:606012
Deafness, Autosomal Recessive 55	Hearing impairment	OMIM:609952
Deafness, Autosomal Recessive 47	Hearing impairment	OMIM:609946
Auditory Neuropathy, Autosomal Dominant 3	Abnormal speech discrimination, Hearing impairment	OMIM:619832
Deafness, Autosomal Recessive 1B	Abnormal vestibular function, Hearing impairment	OMIM:612645
Deafness, Autosomal Recessive 84A	Abnormal vestibular function, Hearing impairment	OMIM:613391
Deafness, Autosomal Dominant 65	Abnormal vestibular function, Progressive hearing impairment	OMIM:616044
Deafness, Autosomal Dominant 87	Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II	OMIM:620281
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Deafness, Autosomal Recessive 25	Progressive sensorineural hearing impairment, Hearing impairment	OMIM:613285
Deafness, Autosomal Dominant 85	Sensorineural hearing impairment, Cochlear nerve hypoplasia	OMIM:620227
Attention Deficit-Hyperactivity Disorder 8	Attention deficit hyperactivity disorder	OMIM:619957
Schizophrenia 15	Hyperactivity	OMIM:613950
Deafness, Autosomal Recessive 30	Progressive sensorineural hearing impairment, Progressive hearing impairment	OMIM:607101
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608631
Deafness, Autosomal Recessive 20	Sensorineural hearing impairment, Hearing impairment	OMIM:604060
Deafness, Autosomal Recessive 13	Sensorineural hearing impairment, Hearing impairment	OMIM:603098
Deafness, Autosomal Recessive 29	Sensorineural hearing impairment, Hearing impairment	OMIM:614035
Deafness, Autosomal Recessive 57	Sensorineural hearing impairment, Hearing impairment	OMIM:618003
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Usher Syndrome, Type Id	Abnormal vestibular function, Hearing impairment	OMIM:601067
Deafness, X-Linked 4	Sensorineural hearing impairment, High-frequency hearing impairment	OMIM:300066
Deafness, Autosomal Dominant 49	Sensorineural hearing impairment, Progressive hearing impairment	OMIM:608372
Deafness, Mid-Tone Neural	Sensorineural hearing impairment, Progressive hearing impairment	OMIM:124700
Deafness, Autosomal Recessive 74	Hearing impairment	OMIM:613718
Autism, Susceptibility To, X-Linked 4	Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior	OMIM:300830
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Facial Paresis, Hereditary Congenital, 2	Hearing impairment	OMIM:604185
Keratoderma, Palmoplantar, With Deafness	Hearing impairment	OMIM:148350
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7	Attention deficit hyperactivity disorder	OMIM:613003
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1	Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn...	OMIM:609129
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300425
Deafness, Autosomal Recessive 70, With Or Without Adult-Onset Neurodegeneration	Abnormal vestibular function, Hearing impairment	OMIM:614934
Gilles De La Tourette Syndrome	Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,...	OMIM:137580
Deafness, Autosomal Dominant 56	Abnormal vestibular function, Sensorineural hearing impairment	OMIM:615629
Deafness, Autosomal Dominant 81	Abnormal vestibular function, Sensorineural hearing impairment	OMIM:619500
Deafness, Autosomal Recessive 7	Abnormal vestibular function, Sensorineural hearing impairment	OMIM:600974
Deafness, Autosomal Dominant 74	Abnormal vestibular function, Sensorineural hearing impairment	OMIM:618140
Deafness, Autosomal Recessive 110	Abnormal vestibular function, Sensorineural hearing impairment	OMIM:618094
Deafness, Autosomal Recessive 1A	Abnormal vestibular function, Sensorineural hearing impairment	OMIM:220290
Deafness, Autosomal Dominant 71	Abnormal vestibular function, Sensorineural hearing impairment	OMIM:617605
Deafness, Autosomal Recessive 89	Sensorineural hearing impairment, Vestibular hypofunction	OMIM:613916
Deafness, Autosomal Recessive 84B	Sensorineural hearing impairment, Vestibular hypofunction	OMIM:614944
Deafness, Autosomal Recessive 18B	Sensorineural hearing impairment, Vestibular hypofunction	OMIM:614945
Deafness, Autosomal Recessive 94	Abnormal vestibular function, Bilateral sensorineural hearing impairment	OMIM:618434
Autism	Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Abnormal repe...	OMIM:209850
Autism, Susceptibility To, 8	Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Abnormal repe...	OMIM:607373
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Fibromatosis, Gingival, 1	Hearing impairment	OMIM:135300
Deafness, Autosomal Recessive 2	Abnormal vestibular function, Vertigo, Sensorineural hearing impairment	OMIM:600060
Deafness, Autosomal Dominant 11	Abnormal vestibular function, Vertigo, Bilateral sensorineural hearing impairment	OMIM:601317
Deafness, Autosomal Recessive 8	Sensorineural hearing impairment	OMIM:601072
Deafness, Autosomal Recessive 26	Sensorineural hearing impairment	OMIM:605428
Deafness, Autosomal Recessive 77	Bilateral sensorineural hearing impairment	OMIM:613079
Deafness, Autosomal Dominant 75	Sensorineural hearing impairment	OMIM:618778
Deafness, Autosomal Dominant 76	Sensorineural hearing impairment	OMIM:618787
Deafness, Autosomal Recessive 14	Sensorineural hearing impairment	OMIM:603678
Deafness, Autosomal Recessive 27	Sensorineural hearing impairment	OMIM:605818
Deafness, Autosomal Recessive 68	Sensorineural hearing impairment	OMIM:610419
Deafness, Autosomal Recessive 21	Sensorineural hearing impairment	OMIM:603629
Deafness, Autosomal Recessive 120	Sensorineural hearing impairment	OMIM:620238
Deafness, Autosomal Dominant 59	Sensorineural hearing impairment	OMIM:612642
Deafness, Autosomal Dominant 3B	Adult onset sensorineural hearing impairment	OMIM:612643
Deafness, Autosomal Recessive 61	Sensorineural hearing impairment	OMIM:613865
Deafness, Autosomal Dominant 4A	Progressive sensorineural hearing impairment	OMIM:600652
Deafness, Autosomal Recessive 117	Sensorineural hearing impairment	OMIM:619174
Deafness, Autosomal Dominant 66	Sensorineural hearing impairment	OMIM:616969
Deafness, Autosomal Dominant 70	Progressive sensorineural hearing impairment	OMIM:616968
Deafness, Autosomal Dominant 22	Progressive sensorineural hearing impairment, Sensorineural hearing impairment	OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type	Progressive sensorineural hearing impairment, Sensorineural hearing impairment	OMIM:221745
Deafness, Autosomal Recessive 28	Severe sensorineural hearing impairment	OMIM:609823
Deafness, Autosomal Recessive 112	Sensorineural hearing impairment	OMIM:618257
Deafness, Autosomal Dominant 10	Sensorineural hearing impairment	OMIM:601316
Deafness, Autosomal Recessive 31	Sensorineural hearing impairment	OMIM:607084
Deafness, Autosomal Dominant 13	Sensorineural hearing impairment	OMIM:601868
Deafness, Autosomal Recessive 15	Sensorineural hearing impairment, Prelingual sensorineural hearing impairment	OMIM:601869
Deafness, Autosomal Dominant 27	Sensorineural hearing impairment	OMIM:612431
Deafness, Autosomal Recessive 45	Prelingual sensorineural hearing impairment	OMIM:612433
Deafness, Autosomal Dominant 5	Progressive sensorineural hearing impairment	OMIM:600994
Deafness, Autosomal Recessive 67	Sensorineural hearing impairment, Bilateral sensorineural hearing impairment	OMIM:610265
Deafness, Autosomal Dominant 78	Profound sensorineural hearing impairment	OMIM:619081
Deafness, Autosomal Dominant 79	Progressive sensorineural hearing impairment	OMIM:619086
Deafness, Autosomal Recessive 79	Progressive sensorineural hearing impairment, Sensorineural hearing impairment	OMIM:613307
Deafness, Autosomal Recessive 116	Sensorineural hearing impairment	OMIM:619093
Deafness, Autosomal Dominant 6	Progressive sensorineural hearing impairment, Low-frequency sensorineural hearing impairment	OMIM:600965
Intellectual Developmental Disorder, X-Linked 46	Sensorineural hearing impairment	OMIM:300436
Deafness, Autosomal Recessive 76	Progressive sensorineural hearing impairment	OMIM:615540
Deafness, Autosomal Recessive 53	Sensorineural hearing impairment	OMIM:609706
Deafness, Autosomal Recessive 85	Prelingual sensorineural hearing impairment	OMIM:613392
Deafness, X-Linked 3	Congenital sensorineural hearing impairment	OMIM:300030
Deafness, Autosomal Dominant 73	Sensorineural hearing impairment	OMIM:617663
Deafness, Autosomal Recessive 17	Sensorineural hearing impairment	OMIM:603010
Deafness, Autosomal Dominant 48	Sensorineural hearing impairment	OMIM:607841
Deafness, Autosomal Dominant 40	Sensorineural hearing impairment	OMIM:616357
Deafness, Autosomal Dominant 37	Sensorineural hearing impairment	OMIM:618533
Deafness, Autosomal Recessive 111	Progressive sensorineural hearing impairment	OMIM:618145
Deafness, Autosomal Dominant 20	Progressive sensorineural hearing impairment, Bilateral sensorineural hearing impairment	OMIM:604717
Deafness, Autosomal Recessive 66	Sensorineural hearing impairment	OMIM:610212
Deafness, Autosomal Recessive 5	Sensorineural hearing impairment	OMIM:600792
Deafness, Autosomal Recessive 3	Profound sensorineural hearing impairment	OMIM:600316
Deafness, Autosomal Recessive 59	Sensorineural hearing impairment	OMIM:610220
Deafness, Autosomal Recessive 63	Congenital sensorineural hearing impairment	OMIM:611451
Deafness, Autosomal Recessive 71	Prelingual sensorineural hearing impairment	OMIM:612789
Deafness, Autosomal Recessive 22	Sensorineural hearing impairment	OMIM:607039
Deafness, Autosomal Recessive 62	Prelingual sensorineural hearing impairment	OMIM:610143
Deafness, Autosomal Dominant 21	Sensorineural hearing impairment	OMIM:607017
Deafness, Autosomal Recessive 49	Prelingual sensorineural hearing impairment	OMIM:610153
Deafness, Autosomal Recessive 44	Prelingual sensorineural hearing impairment	OMIM:610154
Deafness, Autosomal Dominant 68	Sensorineural hearing impairment	OMIM:616707
Deafness, Autosomal Recessive 97	Sensorineural hearing impairment	OMIM:616705
Deafness, Autosomal Recessive 83	Prelingual sensorineural hearing impairment	OMIM:613685
Deafness, Autosomal Recessive 24	Profound sensorineural hearing impairment	OMIM:611022
Deafness, Autosomal Recessive 46	Profound sensorineural hearing impairment	OMIM:609647
Deafness, Autosomal Recessive 42	Sensorineural hearing impairment	OMIM:609646
Deafness, Autosomal Dominant 44	Sensorineural hearing impairment	OMIM:607453
Deafness, Neural, Congenital Moderate	Sensorineural hearing impairment	OMIM:221500
Deafness, Autosomal Dominant 83	Bilateral sensorineural hearing impairment	OMIM:619808
Deafness, Autosomal Dominant 84	Sensorineural hearing impairment	OMIM:619810
Deafness, X-Linked 1	Sensorineural hearing impairment	OMIM:304500
Deafness, Autosomal Dominant 69	Sensorineural hearing impairment	OMIM:616697
Deafness, Autosomal Recessive 113	Sensorineural hearing impairment	OMIM:618410
Neuropathy, Hereditary Motor And Sensory, With Deafness, Impaired Intellectual Development, And Absent Sensory Large Myelinated Fibers	Sensorineural hearing impairment	OMIM:214370
Deafness, Autosomal Recessive 100	Sensorineural hearing impairment	OMIM:618422
Deafness, Autosomal Recessive 114	Sensorineural hearing impairment	OMIM:618456
Deafness, Autosomal Recessive 115	Sensorineural hearing impairment	OMIM:618457
Deafness, Autosomal Recessive 99	Sensorineural hearing impairment	OMIM:618481
Deafness, Autosomal Recessive 109	Congenital sensorineural hearing impairment	OMIM:618013
Deafness, Y-Linked 2	Sensorineural hearing impairment	OMIM:400047
Deafness, Autosomal Dominant 3A	Sensorineural hearing impairment	OMIM:601544
Deafness, Autosomal Recessive 16	Sensorineural hearing impairment	OMIM:603720
Deafness, Autosomal Dominant 12	Sensorineural hearing impairment	OMIM:601543
Deafness, Autosomal Recessive 40	Prelingual sensorineural hearing impairment	OMIM:608264
Deafness, Autosomal Recessive 39	Prelingual sensorineural hearing impairment	OMIM:608265
Deafness, Autosomal Recessive 98	Sensorineural hearing impairment	OMIM:614861
Deafness, Autosomal Recessive 38	Prelingual sensorineural hearing impairment	OMIM:608219
Deafness, Autosomal Recessive 23	Sensorineural hearing impairment	OMIM:609533
Deafness, Autosomal Dominant 47	Sensorineural hearing impairment	OMIM:608652
Deafness, Autosomal Dominant 31	Old-aged sensorineural hearing impairment	OMIM:608645
Deafness, Autosomal Dominant 28	Sensorineural hearing impairment	OMIM:608641
Deafness, Autosomal Dominant 53	Sensorineural hearing impairment	OMIM:609965
Deafness, Autosomal Dominant 30	Sensorineural hearing impairment	OMIM:606451
Deafness, Autosomal Recessive 18A	Sensorineural hearing impairment	OMIM:602092
Deafness, Autosomal Dominant 25	Sensorineural hearing impairment	OMIM:605583
Deafness, Autosomal Recessive 51	Sensorineural hearing impairment	OMIM:609941
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Autism, Susceptibility To, 20	Attention deficit hyperactivity disorder, Compulsive behaviors	OMIM:618830
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Deafness-Oligodontia Syndrome	Vertigo, Abnormality of the inner ear, Sensorineural hearing impairment	ORPHA:3230
Posterior Column Ataxia	Impaired vibratory sensation, Ataxia, Impaired proprioception	OMIM:176250
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Deafness, Autosomal Recessive 104	Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit...	OMIM:616515
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Cochleosaccular Degeneration With Progressive Cataracts	Hearing impairment	OMIM:120040
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia	OMIM:619274
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tremor, Chorea, Abnormal pyramidal sign, Focal dystonia, Compulsive behaviors, Limb dystonia, Par...	ORPHA:216873
Chorea, Childhood-Onset, With Psychomotor Retardation	Abnormal head movements	OMIM:616939
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Parasomnia, Sleep Bruxism Type	Bruxism	OMIM:606840
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	EEG abnormality, Hyperactivity, Abnormal social behavior, Low-set ears	ORPHA:436151
Benign Paroxysmal Torticollis Of Infancy	Abnormal head movements, Ataxia	ORPHA:71518
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Impaired soci...	OMIM:608636
Opticocochleodentate Degeneration	Optic atrophy, Cochlear degeneration, Hearing impairment	OMIM:258700
Intellectual Developmental Disorder, Autosomal Recessive 2	Self-injurious behavior, Attention deficit hyperactivity disorder	OMIM:607417
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L...	ORPHA:98807
Huntington Disease-Like 1	Restlessness, Incoordination, Aggressive behavior, Rigidity, Basal ganglia gliosis, Chorea, Unste...	OMIM:603218
Guanidinoacetate Methyltransferase Deficiency	Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Ath...	ORPHA:382
Huntington Disease	Caudate atrophy, Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Decreased body ...	ORPHA:399
Intellectual Developmental Disorder With Autism And Speech Delay	Inability to walk, Abnormal repetitive mannerisms	OMIM:606053
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300495
Episodic Ataxia Type 4	Abnormal head movements, Ataxia	ORPHA:79136
Dystonia 31	Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Dysphagia, Abnormal posturing, ...	OMIM:619565
Meniere Disease	Vertigo, Tinnitus, Hearing impairment	OMIM:156000
Deafness-Infertility Syndrome	Male infertility, Azoospermia, Sensorineural hearing impairment	ORPHA:94064
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Inappropriate behavior, Myoclonus, Dy...	ORPHA:401901
Spinocerebellar Ataxia 17	Diffuse cerebral atrophy, Chorea, Dysmetria, Gait ataxia, Gliosis, Intention tremor, Ataxia, Park...	OMIM:607136
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Dystonia, Ataxia, Aggressive behavior, Chorea, Poor coordination, Falls, Inappropriate laughter, ...	OMIM:619150
Deafness, Autosomal Dominant 9	Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment...	OMIM:601369
Paroxysmal Exertion-Induced Dyskinesia	Lower limb spasticity, Ataxia, Involuntary movements, Aggressive behavior, Chorea, Torsion dyston...	ORPHA:98811
Deafness, Autosomal Dominant 2A	Tinnitus, Hearing impairment	OMIM:600101
Deafness, Autosomal Dominant 58	Tinnitus, Hearing impairment	OMIM:615654
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Intellectual Developmental Disorder, Autosomal Recessive 58	Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior	OMIM:617270
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Abnormal repetitive mannerisms, Agitation, Aggressive behavior	OMIM:617171
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Cochlear degeneration	ORPHA:3233
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson...	ORPHA:275872
Deafness, Autosomal Dominant 50	Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari...	OMIM:613074
Juvenile Huntington Disease	Cerebellar atrophy, Hyperactivity, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Depre...	ORPHA:248111
Spinocerebellar Ataxia, Autosomal Recessive 3	Cochlear degeneration, Hearing impairment	OMIM:271250
L-2-Hydroxyglutaric Aciduria	Cerebellar atrophy, Ataxia, Spastic tetraparesis, Corpus callosum atrophy, Optic atrophy, Abnorma...	OMIM:236792
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
Pick Disease Of Brain	Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Gliosis, Emotional blunting, Neu...	OMIM:172700
Spinocerebellar Ataxia 48	Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysm...	OMIM:618093
Spinocerebellar Ataxia, Autosomal Recessive 27	Spastic ataxia, Cerebellar atrophy, Torticollis, Aggressive behavior, Gait ataxia, Depression, Lo...	OMIM:618369
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Limb dystonia, Intrauterine growth r...	OMIM:620270
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Limb ataxia, Difficulty walking, Dysphagia, Jerky head movements, Spastic gait	ORPHA:251282
Striatonigral Degeneration, Infantile, Mitochondrial	Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi...	OMIM:500003
Intellectual Developmental Disorder, Autosomal Dominant 33	Hyperactivity	OMIM:616311
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Abnormal vestibular function, Caudate atrophy, Generalized d...	ORPHA:52368
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Somatic sensory dysfunction, Parkinsonism, Rigidity, Corpus callosum atrophy, Depression, Bradyki...	OMIM:221820
Ocular Motor Apraxia	Jerky head movements	OMIM:257550
Basal Ganglia Calcification, Idiopathic, 5	Postural tremor, Parkinsonism, Vertigo, Chorea, Hand tremor, Depression, Athetosis, Motor tics	OMIM:615483
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali...	OMIM:164500
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	Inability to walk, Chorea, Self-injurious behavior, Dystonia, Stereotypical hand wringing	OMIM:618760
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness	Sensorineural hearing impairment, Optic atrophy	OMIM:136600
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Huntington Disease-Like 1	Cerebellar atrophy, Restlessness, Abnormal head movements, Incoordination, Involuntary movements,...	ORPHA:157941
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Clumsiness, Irritabili...	ORPHA:66624
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Cerebellar atrophy, Dystonia, Oculogyric crisis, Inability to walk, Chorea, Cerebral atrophy, Sel...	OMIM:614254
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Decreased testicular size, Short stature, Tremor, Overweight, Depression, Hyperkinetic movements,...	ORPHA:457240
Non-Syndromic Genetic Deafness	Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i...	ORPHA:87884
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Chromosome Xq21 Deletion Syndrome	Chorioretinal degeneration, Choroideremia, Chorioretinal atrophy, Conductive hearing impairment, ...	OMIM:303110
N-Acetylaspartate Deficiency	Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Self-mutilation	OMIM:614063
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Cerebellar atrophy, Broad-based gait, Short stature, Atrophy/Degeneration affecting the brainstem...	OMIM:617862
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal...	OMIM:617672
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly	Hyperactivity, Inability to walk, Babinski sign, Spastic tetraplegia, Cerebral atrophy, Ankle clo...	OMIM:616657
Autism, Susceptibility To, 3	Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Abnormal repe...	OMIM:608049
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitroge...	OMIM:620085
Sydenham Chorea	Chorea, Unsteady gait, Irritability, Inappropriate behavior, Hemiballismus, Compulsive behaviors,...	ORPHA:306731
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cerebellar atrophy, Cryptorchidism, Chorea, Inability to walk, Cerebral atrophy, Gait ataxia, Sel...	OMIM:618917
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru...	ORPHA:247815
Ceroid Lipofuscinosis, Neuronal, 7	Ataxia, Optic atrophy, Pigmentary retinopathy, EEG abnormality, Retinopathy	OMIM:610951
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:619831
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, Impaired pain sensation, Inability to ...	ORPHA:500180
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Failure to thrive, Posteriorly rotated ears, Small for gestational age, Aggressive...	OMIM:609425
Deafness-Infertility Syndrome	Male infertility, Abnormal vestibular function, Abnormal sperm tail morphology, Abnormal spermato...	OMIM:611102
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Deafness, Autosomal Dominant 86	Abnormal vestibular function, Sensorineural hearing impairment, Tinnitus	OMIM:620280
Intellectual Developmental Disorder, X-Linked 104	Hyperactivity, Abnormal pinna morphology, Ataxia, Aggressive behavior, Tremor, Optic atrophy, Spa...	OMIM:300983
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Sensorineural hearing impairment, Immotile sperm	OMIM:608653
Striatonigral Degeneration, Infantile	Optic atrophy, Dysphagia, Choreoathetosis, Dystonia, Spasticity, Failure to thrive	OMIM:271930
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Dystonia, Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dy...	OMIM:618317
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy	Emotional lability, Chorea, Gait disturbance, Dysphagia	OMIM:607674
Developmental And Epileptic Encephalopathy 58	Inability to walk, Abnormal repetitive mannerisms, Optic atrophy, Hypsarrhythmia	OMIM:617830
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Optic atrophy...	OMIM:619470
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Spinocerebellar Ataxia 50	Cerebellar atrophy, Postural tremor, Ataxia, Hearing impairment, Chorea, Myoclonus, Head tremor, ...	OMIM:620158
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Ataxia	ORPHA:2246
Parkinsonism-Dystonia 3, Childhood-Onset	Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Depressi...	OMIM:619738
Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Dystonia, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Cho...	ORPHA:79263
Spermatogenic Failure 62	Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Non-obstructive azoospermia	OMIM:619672
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Dystonia, Paralysis, Athetosis, Gliosis, Dysphagia	OMIM:300857
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Huntington Disease-Like 2	Caudate atrophy, Involuntary movements, Parkinsonism, Chorea, Weight loss, Gait disturbance, Dyst...	ORPHA:98934
Spinocerebellar Ataxia, Autosomal Recessive 29	Optic disc pallor, Generalized dystonia, Ataxia, Inability to walk, Retinal pigment epithelial mo...	OMIM:619389
Choroideremia	Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m...	OMIM:303100
Hyperprolinemia, Type I	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:239500
Spinocerebellar Ataxia Type 1	Cerebellar atrophy, Dystonia, Postural tremor, Chorea, Atrophy/Degeneration affecting the brainst...	ORPHA:98755
Neurodevelopmental Disorder With Involuntary Movements	Cerebellar atrophy, Dystonia, Involuntary movements, Chorea, Atrophy/Degeneration affecting the b...	OMIM:617493
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Aggressive behavior, Babinski sign, Cerebral atrophy, Euphoria, Inappropriate be...	OMIM:221770
Mepan Syndrome	Cerebellar atrophy, Limb dystonia, Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Optic ...	ORPHA:508093
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Ataxia, Gait disturbance	ORPHA:1178
Friedreich Ataxia	Decreased motor nerve conduction velocity, Dystonia, Inability to walk, Chorea, Babinski sign, Op...	ORPHA:95
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618709
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Neurodegeneration With Brain Iron Accumulation 3	Dystonia, Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Choreoat...	OMIM:606159
Familial Infantile Bilateral Striatal Necrosis	Gait ataxia, Choreoathetosis, Hypertonia, Atrophy/Degeneration involving the caudate nucleus, Los...	ORPHA:225154
Myoclonus, Intractable, Neonatal	Optic disc pallor, Chorea, Athetosis, Myoclonus, Dysphagia, Impaired oral bolus formation	OMIM:617235
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Dystonia, Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Opti...	OMIM:617282
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
6Q16 Microdeletion Syndrome	Broad-based gait, Abnormal ear morphology, Poor coordination, Obesity, Microtia, Abnormal temper ...	ORPHA:171829
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Slurred ...	ORPHA:33543
Hsd10 Disease	Ataxia, Tremor, Rigidity, Postnatal growth retardation, Optic atrophy, Choreoathetosis, Frontotem...	ORPHA:391417
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Short stature, Small for gestational age, Tremor, Cryptorchidism, Sens...	OMIM:300957
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Spasticity, Hearing ...	ORPHA:208441
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Restlessness, Dystonia, Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Depression, Opisthot...	ORPHA:13
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Aggressive behavior, Rigidity, Babinski sign, Astrocytosis, Inappropriate behavior,...	OMIM:600795
Deafness, Autosomal Dominant 36	Sensorineural hearing impairment, Tinnitus	OMIM:606705
Deafness, Autosomal Dominant 43	Sensorineural hearing impairment, Tinnitus	OMIM:608394
Deafness, Autosomal Dominant 33	Sensorineural hearing impairment, Tinnitus	OMIM:614211
Deafness, Autosomal Dominant 64	Sensorineural hearing impairment, Tinnitus	OMIM:614152
Deafness, Autosomal Dominant 67	Sensorineural hearing impairment, Tinnitus	OMIM:616340
Deafness, Autosomal Dominant 77	Sensorineural hearing impairment, Tinnitus	OMIM:618915
Deafness, Autosomal Dominant 72	Sensorineural hearing impairment, Tinnitus	OMIM:617606
Deafness, Autosomal Dominant 82	Sensorineural hearing impairment, Tinnitus	OMIM:619804
Deafness, Y-Linked 1	Sensorineural hearing impairment, Tinnitus	OMIM:400043
Huntington Disease	Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Depression, Gliosis, Neuronal lo...	OMIM:143100
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Low-set ears, Bruxism, Brain a...	OMIM:618718
Frontotemporal Dementia	Amyotrophic lateral sclerosis, Parkinsonism, Irritability, Disinhibition, Inappropriate laughter,...	OMIM:600274
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Spermatogenic Failure, X-Linked, 5	Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A...	OMIM:301099
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Unsteady gait, Hemiballismus, Brain atrophy, Frequent falls	ORPHA:494526
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Short stature, Postnatal growth retardation, Abnormal fear-induced ...	ORPHA:309246
Usher Syndrome Type 1	Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrophy, Vest...	ORPHA:231169
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Short stature, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia...	OMIM:213200
Huntington Disease-Like 3	Abnormal head movements, Progressive gait ataxia, Broad-based gait	ORPHA:157946
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Ataxia, Anorexia, Tremor, Recurren...	ORPHA:3008
Spermatogenic Failure 20	Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Neurodevelopmental Disorder With Dystonia And Seizures	Cerebellar atrophy, Chorea, Spastic tetraplegia, Self-injurious behavior, Athetosis, Dystonia, In...	OMIM:619922
Deafness, Autosomal Dominant 41	Progressive sensorineural hearing impairment, Tinnitus	OMIM:608224
Folinic Acid-Responsive Seizures	Cerebellar atrophy, Broad-based gait, Ataxia, Spastic tetraparesis, Sensorineural hearing impairm...	ORPHA:79097
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Astrocytosis, Frontotempo...	ORPHA:275864
Paroxysmal Non-Kinesigenic Dyskinesia	Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy...	ORPHA:98810
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Limb dystonia, Cerebral palsy, Short stature, Clonus, Small for gestational age, Cryptorchidism, ...	OMIM:619847
Pendred Syndrome	Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle...	ORPHA:705
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Deafness, Autosomal Dominant 16	Adult onset sensorineural hearing impairment, Tinnitus	OMIM:603964
Inherited Creutzfeldt-Jakob Disease	Tremor, Chorea, Abnormal pyramidal sign, Gait ataxia, Spastic dysarthria, Progressive extrapyrami...	ORPHA:282166
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
3-Methylglutaconic Aciduria, Type Iii	Ataxia, Chorea, Babinski sign, Optic atrophy, Abnormality of extrapyramidal motor function, Spast...	OMIM:258501
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Self-injurious behavior, Macrotia, Impaired social interactions, Stereotypical hand wringing	ORPHA:397933
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Ataxia, Involuntary movements, Chorea, Optic atrophy, Difficulty walking, Dystoni...	ORPHA:401768
Usher Syndrome, Type I	Sensorineural hearing impairment, Rod-cone dystrophy, Absent vestibular function	OMIM:276900
Machado-Joseph Disease	Impaired vibratory sensation, Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Facial-lingual ...	OMIM:109150
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Self-injurious behavior, Abnormal repetitive mannerisms, Impaired social interactions, EEG abnorm...	OMIM:617820
Spermatogenic Failure 17	Male infertility	OMIM:617214
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia	OMIM:619553
Ravine Syndrome	Anorexia, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem	ORPHA:99852
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation, Ataxia	ORPHA:2579
Clcn4-Related X-Linked Intellectual Disability Syndrome	Lower limb spasticity, Hyperactivity, Aggressive behavior, Cryptorchidism, Chorea, Unsteady gait,...	ORPHA:485350
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Developmental And Epileptic Encephalopathy 107	Abnormal repetitive mannerisms	OMIM:620033
Huntington Disease-Like 2	Rigidity, Chorea, Depression, Bradykinesia, Irritability, Weight loss, Dystonia, Cerebral cortica...	OMIM:606438
Usher Syndrome Type 3	Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction	ORPHA:231183
Pontocerebellar Hypoplasia, Type 2A	Restlessness, Dystonia, Chorea, Optic atrophy, Opisthotonus, Gliosis, Extrapyramidal dyskinesia, ...	OMIM:277470
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Hyperactivity, Agitation	OMIM:619970
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Ataxia, Corpus callosum atrophy, Babinski sign, Depression, Pseudobulbar paralysis, Impotence, Gl...	OMIM:169500
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
Hereditary Geniospasm	EEG abnormality, Abnormal social behavior	ORPHA:53372
Autosomal Recessive Spastic Paraplegia Type 44	Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing i...	ORPHA:320401
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Dystonia, Inability to walk, Cerebral atrophy, Choreoathetosis, Hyperkinetic movements, Myoclonus...	OMIM:618497
Pontocerebellar Hypoplasia, Type 2D	Appendicular spasticity, Cerebellar atrophy, Clonus, Chorea, Spastic tetraplegia, Cerebral atroph...	OMIM:613811
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti...	OMIM:619725
Pontocerebellar Hypoplasia, Type 4	Hypertonia, Gliosis, Myoclonus, Dysphagia, Spasticity	OMIM:225753
Fragile X Syndrome	Abnormal head movements, Hyperactivity, Recurrent hand flapping, Self-biting	OMIM:300624
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Developmental And Epileptic Encephalopathy 6B	Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia, ...	OMIM:619317
Salt And Pepper Developmental Regression Syndrome	Optic atrophy, Choreoathetosis, Irritability, Myoclonus, Failure to thrive, Global brain atrophy,...	OMIM:609056
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Sensorineural hearing impairment, Peripapillary atrophy, Ret...	OMIM:617879
Dentatorubral-Pallidoluysian Atrophy	Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia	OMIM:125370
Developmental And Epileptic Encephalopathy 37	Cerebellar atrophy, Rigidity, Chorea, Cerebral atrophy, Cogwheel rigidity, Choreoathetosis, Hyper...	OMIM:616981
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Hyperactivity, Resting tremor, Broad-based gait, Parkinsonism, Anorexia, A...	ORPHA:3077
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Dystonia, Facial palsy, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Tr...	OMIM:607483
Hereditary Late-Onset Parkinson Disease	Resting tremor, Dystonia, Parkinsonism, Impulsivity, Akinesia, Rigidity, Depression, Bradykinesia...	ORPHA:411602
Developmental And Epileptic Encephalopathy 64	Paroxysmal dystonia, Dystonia, Inability to walk, Chorea, Hemiparesis, Self-injurious behavior, B...	OMIM:618004
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Spinocerebellar Ataxia, Autosomal Recessive 31	Dystonia, Ataxia, Tremor, Optic atrophy, Bruxism, Cerebral atrophy, Choreoathetosis, Growth delay...	OMIM:619422
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Cerebral palsy, Aggressive behavior, Corpus callosum atrophy, Unsteady gait, Phoni...	OMIM:301107
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Lower limb spasticity, Pain insensitivity, Decreased body weight, Ataxia, Rigidity, Repetitive co...	OMIM:300260
Pontocerebellar Hypoplasia, Type 11	Broad-based gait, Decreased body weight, Ataxia, Short stature, Inability to walk, Poor coordinat...	OMIM:617695
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Oculogyric crisis, Tremor, Chor...	ORPHA:94093
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Incoordination, Abnormal pinna morphology, Ataxia, Short stature, Small for gestat...	OMIM:614104
Leigh Syndrome	Ataxia, Sensorineural hearing impairment, Optic atrophy, Gliosis, Dystonia, Emotional lability, S...	OMIM:256000
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Caudate atrophy, Dystonia, Tremor, Unsteady gait, Abnormal pyramidal sign, Br...	OMIM:617435
Pyruvate Dehydrogenase E2 Deficiency	Choreoathetosis, Ataxia, Jerky head movements	OMIM:245348
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Ab...	OMIM:256600
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Atheto...	OMIM:213600
Spermatogenic Failure 29	Male infertility, Non-obstructive azoospermia, Immotile sperm	OMIM:618091
Branchiootic Syndrome 1	Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea...	OMIM:602588
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Developmental And Epileptic Encephalopathy 110	Pain insensitivity, Chorea, Low-set ears, Bruxism, Spasticity, Macrotia	OMIM:620149
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Leukoencephalopathy With Vanishing White Matter 1	Premature ovarian insufficiency, Unsteady gait, Optic atrophy, Secondary amenorrhea, Primary amen...	OMIM:603896
Intellectual Developmental Disorder, X-Linked 101	Hyperactivity, Macrotia, Optic atrophy	OMIM:300928
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi...	OMIM:613670
Juvenile Amyotrophic Lateral Sclerosis	Clonus, Chorea, Opisthotonus, Hypertonia, Ataxia, Parkinsonism, Upper limb spasticity, Arm dyston...	ORPHA:300605
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Hyperactivity, Dystonia, Impulsivity, Chorea, Babinski sign, Optic atrophy, D...	OMIM:610217
Pendred Syndrome	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation	OMIM:274600
Gordon Holmes Syndrome	Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Chorea, Primary amenorrhea, Secondary ...	OMIM:212840
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Deafness, X-Linked 5, With Peripheral Neuropathy	Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,...	OMIM:300614
Progressive Supranuclear Palsy	Dystonia, Impulsivity, Tremor, Rigidity, Unsteady gait, Depression, Blepharospasm, Bradykinesia, ...	ORPHA:683
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C...	ORPHA:90646
Otosclerosis 7	Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a...	OMIM:611572
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Optic atrophy, Spinocerebellar atrophy, Head tremor, Cochlear degeneration, Hearing impairment	ORPHA:95433
Episodic Kinesigenic Dyskinesia 2	Chorea, Dystonia, Involuntary movements, Paroxysmal dyskinesia	OMIM:611031
Spinocerebellar Ataxia 1	Decreased motor nerve conduction velocity, Chorea, Impaired proprioception, Dysmetria, Spinocereb...	OMIM:164400
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Pelizaeus-Merzbacher Disease	Writer's cramp, Tremor, Abnormal pyramidal sign, Choreoathetosis, Intention tremor, Ataxia, Short...	OMIM:312080
Spermatogenic Failure 22	Male infertility, Non-obstructive azoospermia, Cryptozoospermia	OMIM:617706
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Familial Cold Urticaria	Dysesthesia, Sensorineural hearing impairment, Polydipsia	ORPHA:47045
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polydipsia, Hypernatremia	OMIM:125800
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	Cerebellar atrophy, Hyperactivity, Aggressive behavior, Corpus callosum atrophy, Optic atrophy, A...	ORPHA:369939
Tay-Sachs Disease	Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Progressive spasticity, Laryngeal dystonia, Dep...	ORPHA:845
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polydipsia, Hypernatremia	OMIM:304800
Developmental And Epileptic Encephalopathy 30	Abnormal repetitive mannerisms	OMIM:616341
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Waddling gait, Pigmentary retinopathy, Hearing impairment	OMIM:619090
Classic Glucose Transporter Type 1 Deficiency Syndrome	Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy...	ORPHA:71277
Obesity Due To Sim1 Deficiency	Short stature, Obesity, Abnormal autonomic nervous system physiology, Attention deficit hyperacti...	ORPHA:369873
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Myoclonus, Tetraparesis...	OMIM:615924
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia	OMIM:613886
Spermatogenic Failure 42	Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe...	OMIM:618745
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Short stature, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive...	OMIM:615541
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
2Q23.1 Microdeletion Syndrome	Hyperactivity, Ataxia, Short stature, Abnormal repetitive mannerisms, Cryptorchidism, Growth dela...	ORPHA:228402
Spinocerebellar Ataxia Type 2	Postural tremor, Parkinsonism, Kinetic tremor, Chorea, Cerebellar Purkinje layer atrophy, Gait at...	ORPHA:98756
Macular Dystrophy, Retinal, 2	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal...	OMIM:608051
X-Linked Creatine Transporter Deficiency	Hyperactivity, Aganglionic megacolon, Ataxia, Short stature, Cachexia, Chorea, Athetosis, Hyperto...	ORPHA:52503
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Myopathy With Extrapyramidal Signs	Hyperactivity, Ataxia, Clonus, Tremor, Chorea, Optic atrophy, Clumsiness, Choreoathetosis, Growth...	OMIM:615673
Baker-Gordon Syndrome	Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, Hyper...	OMIM:618218
Hsd10 Mitochondrial Disease	Restlessness, Aggressive behavior, Sensorineural hearing impairment, Optic atrophy, Spastic tetra...	OMIM:300438
Spermatogenic Failure, X-Linked, 6	Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai...	OMIM:301101
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto...	OMIM:617519
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Broad-based gait, Hyperactivity, Ataxia, Obesity, Inappropriate laughter, Polyphagia	ORPHA:411515
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Tremor, Gait ataxia, Large fleshy ears, Impaired tactile sensation, Hypertonia, Myoclonus...	OMIM:619092
Hartnup Disorder	Hyperactivity, Short stature, Hypertonia, Attention deficit hyperactivity disorder, Episodic atax...	OMIM:234500
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Ataxia	OMIM:616949
Mannosidosis, Beta A, Lysosomal	Hyperactivity, Hearing impairment, Aggressive behavior	OMIM:248510
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Hype...	OMIM:615751
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Restlessness, Apraxia, Resting tremor, Ataxia, Parkinsonism, Dystonia, Tremor, Babinski sign, Spa...	OMIM:300055
Mohr-Tranebjaerg Syndrome	Progressive sensorineural hearing impairment, Abnormal posturing, Postlingual sensorineural heari...	OMIM:304700
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Usher Syndrome, Type Iv	Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluorescent macular lesion, Se...	OMIM:618144
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Abnormal repetitive mannerisms, Disinhibition, Dysphagia	OMIM:612069
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Cerebellar atrophy, Dystonia, Ataxia, Corpus callosum atrophy, Babinski sign, Dysmetria, Cerebral...	OMIM:618088
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
X-Linked Dystonia-Parkinsonism	Limb dystonia, Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Torsion dyst...	ORPHA:53351
East Syndrome	Cerebellar atrophy, Salt craving, Ataxia, Inability to walk, Sensorineural hearing impairment, Di...	ORPHA:199343
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Christianson Syndrome	Cerebellar atrophy, Dystonia, Cachexia, Truncal ataxia, Gait ataxia, Inappropriate laughter, Neur...	ORPHA:85278
Leber Congenital Amaurosis 2	Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Eye poking, Atte...	OMIM:204100
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Hereditary Central Diabetes Insipidus	Growth delay, Irritability, Polydipsia, Weight loss	ORPHA:30925
Foxg1 Syndrome	Dystonia, Short stature, Inability to walk, Choreoathetosis, Severe postnatal growth retardation,...	ORPHA:561854
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613809
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:615990
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,...	OMIM:105550
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615282
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Cerebral palsy, Slender build, Chorea, Myoclonus, Attention deficit hyperactivity ...	OMIM:617600
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Tinnitus, Bilateral sensorineural hearing impairment, High-frequency hearing impairment	OMIM:605594
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Generalized dystonia, Ataxia, Dystonia, Aggressive behavior, Chorea, Spastic tetraplegia, Cerebra...	OMIM:618321
Progressive Supranuclear Palsy-Corticobasal Syndrome	Apraxia, Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abno...	ORPHA:240103
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Cerebral atrophy, Irritability, Difficulty walking, Spasticity, Failure to thrive, Abnormal repet...	OMIM:617393
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Schaaf-Yang Syndrome	Short stature, Failure to thrive in infancy, Impulsivity, Cryptorchidism, Inability to walk, Obes...	OMIM:615547
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy	ORPHA:1995
Jeavons Syndrome	Abnormal head movements, EEG with spike-wave complexes, EEG with generalized polyspikes, EEG with...	ORPHA:139431
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Dystonia, Parkinsonism, Rigidity, Depression, Bradykinesia, Gliosis, Myoclonus, G...	OMIM:168601
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response, Failure to thrive, Short stature, Optic nerve hypoplasia, Inability...	OMIM:617864
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Xq28 (MECP2) duplication	Failure to thrive, Inability to walk, Gait ataxia, Depression, Progressive spasticity, Dysphagia,...	DECIPHER:45
Trisomy 18P	Abnormal pinna morphology, Facial palsy, Short stature, Bilateral cryptorchidism, Attention defic...	ORPHA:1715
Vestibulocochlear Dysfunction, Progressive	Vestibular areflexia, Tinnitus, Progressive hearing impairment	OMIM:193005
Microcephaly, Seizures, And Developmental Delay	Cerebellar atrophy, Hyperactivity, Ataxia	OMIM:613402
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Axonal degeneration, Tetraplegia, Hand tremor, Degeneration of anterior horn cells, Distal sensor...	OMIM:604484
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori...	OMIM:125250
Ritscher-Schinzel Syndrome 4	Ataxia, Short stature, Impulsivity, Aggressive behavior, Cryptorchidism, Chorea, Athetosis, Dysph...	OMIM:619435
Spinocerebellar Ataxia Type 32	Male infertility, Progressive cerebellar ataxia, Azoospermia, Testicular atrophy	ORPHA:276183
Brunet-Wagner Neurodevelopmental Syndrome	Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Self-injurious behavior, Abnormal repetitive...	OMIM:619690
Ataxia-Telangiectasia-Like Disorder	Cerebellar atrophy, Ataxia, Hypergonadotropic hypogonadism, Short stature, Chorea, Dysmetria, Gai...	ORPHA:251347
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation, Ataxia, Hearing impairment	ORPHA:480
Severe Intellectual Disability And Progressive Spastic Paraplegia	Waddling gait, Cerebellar atrophy, Short stature, Overweight, Babinski sign, Spastic dysarthria, ...	ORPHA:280763
Peroxisomal Acyl-Coa Oxidase Deficiency	Dystonia, Optic atrophy, Pigmentary retinopathy, Bilateral sensorineural hearing impairment, Low-...	OMIM:264470
Nephrogenic Diabetes Insipidus	Polydipsia, Hypernatremia, Anorexia	ORPHA:223
Hypotonia-Cystinuria Syndrome	Failure to thrive, Posteriorly rotated ears, Facial palsy, Hypergonadotropic hypogonadism, Postna...	OMIM:606407
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hyperactivity, Short stature, Aggressive behavior, Tremor, Sensorineural hearing impairment, Prot...	OMIM:618342
Developmental And Epileptic Encephalopathy 14	Clonus, Tetraplegia, Gliosis, Spasticity, Neuronal loss in central nervous system, Cerebral corti...	OMIM:614959
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Hyperlysinemia, Type I	Hyperactivity	OMIM:238700
Stxbp1-Related Encephalopathy	Hyperactivity, Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity	ORPHA:599373
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Generalized dystonia, Ataxia, Inability to walk, Chorea, Dysphagia, Spasticity, Failure to thrive	ORPHA:70472
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
Diabetes And Deafness, Maternally Inherited	Abnormal vestibular function, Sensorineural hearing impairment, Unsteady gait, Vertigo, Pigmentar...	OMIM:520000
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Cerebellar atrophy, Torticollis, Short stature, Clonus, Tremor, Chorea, Babinski ...	ORPHA:397946
Leptin Deficiency Or Dysfunction	Obesity, Primary amenorrhea, Hypogonadism, Polyphagia, Decreased testicular size	OMIM:614962
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Cerebral palsy, Short stature, Small for gestational age, Repetitive compulsive be...	ORPHA:352490
Hyperphenylalaninemia, Bh4-Deficient, C	Dystonia, Tremor, Choreoathetosis, Irritability, Hypertonia, Myoclonus, Dysphagia	OMIM:261630
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy, Ataxia	OMIM:551500
Chorea, Benign Hereditary	Chorea, Frequent falls, Gait disturbance	OMIM:118700
Central Diabetes Insipidus	Anorexia, Weight loss, Depression, Polydipsia, Failure to thrive	ORPHA:178029
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Growth delay, Dystonia, Ocul...	OMIM:612716
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Dihydropyrimidine Dehydrogenase Deficiency	Hyperactivity, Optic atrophy, Cerebral atrophy, Tetraplegia, Growth delay, Hypertonia, Failure to...	OMIM:274270
Birk-Aharoni Syndrome	Inability to walk, Cryptorchidism, Chorea, Spastic tetraplegia, Failure to thrive, Hearing impair...	OMIM:620071
Schimke X-Linked Mental Retardation Syndrome	Choreoathetosis, Spasticity, Growth delay, Hearing impairment	OMIM:312840
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618906
Cherubism	Macular scar, Marcus Gunn pupil, Optic neuropathy	OMIM:118400
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia	ORPHA:3225
Nasu-Hakola Disease	Chorea, Irritability, Disinhibition, Oculomotor apraxia, Spasticity, Cerebral cortical atrophy	ORPHA:2770
Leber Congenital Amaurosis 1	Fundus atrophy, Sensorineural hearing impairment, Optic disc drusen, Pigmentary retinopathy, Eye ...	OMIM:204000
Infantile Convulsions And Choreoathetosis	Involuntary movements, Chorea, Choreoathetosis, Athetosis, Dystonia, Paroxysmal dyskinesia	ORPHA:31709
Paroxysmal Kinesigenic Dyskinesia	Writer's cramp, Involuntary movements, Chorea, Athetosis, Dystonia	ORPHA:98809
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Brain-Lung-Thyroid Syndrome	Hyperactivity, Incoordination, Ataxia, Involuntary movements, Dystonia, Abnormal eating behavior,...	ORPHA:209905
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Parkinsonism, Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Gliosis, ...	OMIM:607485
Intellectual Developmental Disorder, Autosomal Dominant 67	Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:619927
Spinocerebellar Ataxia 47	Ataxia, Short stature, Chorea, Dysmetria, Low-set ears, Spasticity, Cerebellar vermis atrophy	OMIM:617931
Leptin Receptor Deficiency	Hypergonadotropic hypogonadism, Short stature, Abnormal eating behavior, Aggressive behavior, Obe...	OMIM:614963
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Isochromosomy Yp	Male infertility, Azoospermia, Decreased testicular size	ORPHA:98797
Neuroferritinopathy	Resting tremor, Caudate atrophy, Dystonia, Parkinsonism, Involuntary movements, Writer's cramp, C...	ORPHA:157846
Otosclerosis 8	Otosclerosis, Hearing impairment	OMIM:612096
Otosclerosis 3	Otosclerosis, Hearing impairment	OMIM:608244
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Hyperactivity, Tremor, Rigidity, Inability to walk, Dysmetria, Gait ataxia, G...	OMIM:618090
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior	OMIM:605899
14Q11.2 Microduplication Syndrome	Aggressive behavior, Slurred speech, Obesity, Attention deficit hyperactivity disorder, Polyphagia	ORPHA:261229
Oculopharyngodistal Myopathy 3	Ataxia, Tremor, Sensorineural hearing impairment, Pigmentary retinopathy, Dysphagia, Conductive h...	OMIM:619473
Infantile Dystonia-Parkinsonism	Cerebral palsy, Parkinsonism, Oculogyric crisis, Chorea, Abnormal pyramidal sign, Bradykinesia, I...	ORPHA:238455
Hemimegalencephaly	Optic atrophy, Hemiparesis, Gliosis, Myoclonus, Abnormal neuron morphology	ORPHA:99802
Paroxysmal Nonkinesigenic Dyskinesia 1	Paroxysmal dystonia, Torticollis, Paroxysmal choreoathetosis, Dysphagia	OMIM:118800
Bardet-Biedl Syndrome 22	Hypogonadism, Polyphagia, Obesity, Large for gestational age	OMIM:617119
Spinocerebellar Ataxia Type 17	Cerebellar atrophy, Torticollis, Dystonia, Ataxia, Involuntary movements, Parkinsonism, Writer's ...	ORPHA:98759
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia	OMIM:618587
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Intellectual Developmental Disorder, Autosomal Dominant 39	Aggressive behavior, Obesity, Cerebral atrophy, Polyphagia, Self-mutilation	OMIM:616521
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Cerebral palsy, Chorea, Babinski sign, Choreoathetosis, Hypertonia, Low-set ears, Dystonia, Spast...	OMIM:618451
Cerebellar Atrophy With Seizures And Variable Developmental Delay	Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia, Cerebellar vermis atrophy	OMIM:618501
Pontocerebellar Hypoplasia, Type 2C	Chorea, Dystonia	OMIM:612390
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v...	OMIM:601455
Angelman Syndrome	Optic disc pallor, Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Tremor, Inabilit...	ORPHA:72
8p23.1 deletion syndrome	Hyperactivity	DECIPHER:39
Cebalid Syndrome	Abnormal pinna morphology, Posteriorly rotated ears, Low-set ears, Polyphagia, Hearing impairment	OMIM:618774
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Cerebellar atrophy, Dystonia, Posteriorly rotated ears, Ataxia, Involuntary movements, Prominent ...	OMIM:617804
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Developmental And Epileptic Encephalopathy 27	Chorea, Myoclonus, Spasticity, Dystonia	OMIM:616139
Developmental And Epileptic Encephalopathy 17	Inability to walk, Chorea, Cerebral atrophy, Athetosis, Dystonia	OMIM:615473
Short Stature, Developmental Delay, And Congenital Heart Defects	Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms...	OMIM:617044
Sporadic Creutzfeldt-Jakob Disease	Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Abnormality of ex...	ORPHA:204
Posttransplant Acute Limbic Encephalitis	Hyponatremia, Ataxia, Dystonia	ORPHA:163921
Posterior Column Ataxia With Retinitis Pigmentosa	Broad-based gait, Bone spicule pigmentation of the retina, Ataxia, Decreased sensory nerve conduc...	OMIM:609033
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Polyphagia, Obesity, Short stature, Aggressive behavior	ORPHA:329249
Man1B1-Cdg	Resting tremor, Broad-based gait, Truncal obesity, Low-set ears, Macrotia, Polyphagia	ORPHA:397941
Rett Syndrome, Congenital Variant	Dystonia, Chorea, Tongue thrusting, Protruding ear, Irritability, Athetosis, Bruxism, Spasticity,...	OMIM:613454
Septo-Optic Dysplasia Spectrum	Septo-optic dysplasia, Short stature, Optic nerve hypoplasia, Hemiplegia/hemiparesis, Sensorineur...	ORPHA:3157
Optic Atrophy 11	Hyperactivity, Ataxia, Optic nerve hypoplasia, Short stature, Macrotia, Gait apraxia, Optic atrop...	OMIM:617302
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Short stature, Chorea, Choreoathetosis, Athetosis, Failure to thrive	OMIM:309541
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Decreased motor nerve conduction velocity, Ataxia, Hypogonadotropic hypogonadism, Hypergonadotrop...	OMIM:604168
Early-Onset X-Linked Optic Atrophy	Optic disc pallor, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia...	ORPHA:98890
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Generalized dystonia, Inability to walk, Opisthotonus, Pigmentary retinopathy,...	ORPHA:216866
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre...	OMIM:300539
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Hyperactivity, Bruxism	OMIM:300434
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Axonal...	OMIM:208920
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Decreased motor nerve conduction velocity, Cerebellar atrophy, Dystonia, Tremor, Chorea, Impaired...	OMIM:606002
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:617872
Sneddon Syndrome	Tremor, Vertigo, Chorea, Hemiparesis	ORPHA:820
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Childhood-Onset Benign Chorea With Striatal Involvement	Chorea, Parkinsonism with favorable response to dopaminergic medication	ORPHA:494541
Atypical Rett Syndrome	Restrictive behavior, Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability...	ORPHA:3095
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Striatal Degeneration, Autosomal Dominant 2	Chorea, Parkinsonism	OMIM:616922
Narp Syndrome	Optic disc pallor, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Pr...	ORPHA:644
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Glutathione Synthetase Deficiency	Pigmentary retinopathy, Ataxia, Intention tremor	OMIM:266130
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Prader-Willi Syndrome Due To Imprinting Mutation	Short stature, Polyphagia, Obesity, Hypogonadotropic hypogonadism	ORPHA:177910
Spastic Paraplegia 50, Autosomal Recessive	Cerebellar atrophy, Optic disc pallor, Cerebral palsy, Ataxia, Babinski sign, Spastic tetraplegia...	OMIM:612936
Deafness, Autosomal Recessive 103	Abnormal vestibular function, Sensorineural hearing impairment, Vestibular areflexia	OMIM:616042
Abcd Syndrome	Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari...	OMIM:600501
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Attached earlobe, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Re...	OMIM:616108
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Pontocerebellar Hypoplasia, Type 8	Posteriorly rotated ears, Involuntary movements, Chorea, Gait ataxia, Hypertonia, Low-set ears, D...	OMIM:614961
Charcot-Marie-Tooth Disease Type 1F	Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, R...	ORPHA:101085
Mitochondrial Complex I Deficiency, Nuclear Type 12	Cerebellar atrophy, Ataxia, Unsteady gait, Choreoathetosis, Myoclonus, Gait imbalance, Progressiv...	OMIM:301020
Congenital Neuronal Ceroid Lipofuscinosis	Abnormal astrocyte morphology, Cerebellar atrophy, Aplasia/Hypoplasia of the external ear, Gliosi...	ORPHA:168486
Syngap1-Related Developmental And Epileptic Encephalopathy	Ataxia, Abnormal eating behavior, Anteverted ears, Tremor, Macrotia, Poor coordination, Obsessive...	ORPHA:544254
3-Methylglutaconic Aciduria, Type Ix	Clonus, Aggressive behavior, Optic atrophy, Cerebral atrophy, Choreoathetosis, Hypertonia, Spasti...	OMIM:617698
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,...	OMIM:606703
Obesity Due To Prohormone Convertase I Deficiency	Obesity, Growth delay, Delayed puberty, Failure to thrive, Polyphagia, Childhood-onset truncal ob...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Obesity, Growth delay, Delayed puberty, Failure to thrive, Polyphagia, Childhood-onset truncal ob...	ORPHA:71526
Marchiafava-Bignami Disease	Ataxia, Facial palsy, Aggressive behavior, Rigidity, Vertigo, Abnormal pyramidal sign, Depression...	ORPHA:221074
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dys...	OMIM:619405
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cerebellar atrophy, Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting...	OMIM:619580
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Pontocerebellar Hypoplasia, Type 2B	Cerebellar atrophy, Dystonia, Clonus, Chorea, Babinski sign, Cerebral atrophy, Opisthotonus, Extr...	OMIM:612389
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa...	OMIM:613835
Mitochondrial Complex I Deficiency, Nuclear Type 26	Cerebellar atrophy, Dystonia, Hearing impairment, Cerebral atrophy, Choreoathetosis, Dysphagia, L...	OMIM:618247
Developmental And Epileptic Encephalopathy 67	Hypsarrhythmia, EEG abnormality, Athetosis, Gait disturbance, Dystonia, Recurrent hand flapping	OMIM:618141
Type 1 Diabetes Mellitus	Polydipsia, Polyphagia	OMIM:222100
Combined Oxidative Phosphorylation Deficiency 27	Cerebellar atrophy, Chorea, Cerebral atrophy, Opisthotonus, Myoclonus, Tetraparesis, Dystonia, Fa...	OMIM:616672
Bardet-Biedl Syndrome 9	Irregular menstruation, Obesity, Truncal obesity, Polydipsia, Polyphagia	OMIM:615986
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
X-Linked Adrenoleukodystrophy	Hyperactivity, Neurogenic bladder, Incoordination, Somatic sensory dysfunction, Aggressive behavi...	ORPHA:43
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Hsd10 Disease, Infantile Type	Restlessness, Diffuse cerebral atrophy, Dystonia, Spastic tetraparesis, Poor coordination, Optic ...	ORPHA:391428
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Cerebellar atrophy, Salt craving, Ataxia, Short stature, Sensorineural hearing impairment, Dysdia...	OMIM:612780
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Clonus, Rigidity, Babinski sign, Optic atrophy, Hypertonia, Gliosis, Abnormal autonomic nervous s...	OMIM:614498
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Insulinoma	Tremor, Hearing abnormality, Increased body weight, Paresthesia, Abnormality of pain sensation, P...	ORPHA:97279
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro...	OMIM:613731
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Choreoacanthocytosis	Caudate atrophy, Chorea, Hypertonia, Compulsive behaviors, Limb dystonia, Loss of ambulation, Lar...	ORPHA:2388
Cln5 Disease	Cerebellar atrophy, Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, ...	ORPHA:228360
Woolly Hair Nevus	Enlarged vestibular aqueduct	ORPHA:79414
Temple Syndrome	Small for gestational age, Short stature, Postnatal growth retardation, Cryptorchidism, Obesity, ...	ORPHA:254516
Hypotonia-Cystinuria Syndrome	Growth delay, Failure to thrive, Polyphagia	ORPHA:163690
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Diffuse cerebral atrophy, Small for gestational age, Cryptorchidism, Sensorin...	OMIM:214150
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Cerebral palsy, Spastic paraplegia, Athetosis, Polydipsia, Tinnitus	ORPHA:369929
Metachromatic Leukodystrophy, Adult Form	Dystonia, Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Depression, ...	ORPHA:309271
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Broad-based gait, Optic atrophy, Gait ataxia, Prominent antihelix, Difficulty walking, Dystonia, ...	OMIM:617807
Branchiootorenal Syndrome 1	Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea...	OMIM:113650
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Cerebral atrophy, Distal sensory impairment, Gliosis, Abnormality of extrapyramidal motor functio...	OMIM:604218
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Obesity Due To Melanocortin 4 Receptor Deficiency	Polyphagia, Obesity, Childhood-onset truncal obesity	ORPHA:71529
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Broad-based gait, Hyperactivity, Aggressive behavior, Spasticity, Hearing impairment	ORPHA:457260
Retinitis Pigmentosa 47	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy	OMIM:613758
Hyperphenylalaninemia, Bh4-Deficient, A	Dystonia, Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Choreoathetosis, Irr...	OMIM:261640
Adducted Thumbs Syndrome	Myelin-dependent gliosis, Dysphagia	OMIM:201550
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement	Sensorineural hearing impairment, Vestibular areflexia	OMIM:609006
Pediatric-Onset Graves Disease	Hyperactivity, Tremor, Irritability, Hyperkinetic movements, Emotional lability, Polydipsia, Fail...	ORPHA:525731
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Dysph...	OMIM:128100
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Vestibular arefle...	ORPHA:3240
Luscan-Lumish Syndrome	Short stature, Aggressive behavior, Irregular menstruation, Slurred speech, Obesity, Recurrent ot...	OMIM:616831
Dentici-Novelli Neurodevelopmental Syndrome	Inability to walk, Hypertonia, Macrotia, Abnormal repetitive mannerisms, Hearing impairment	OMIM:619877
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Dystonia, Parkinsonism, Chorea, Babinski sign, Gait ataxia, Titubation, Bradykine...	ORPHA:225147
Cystinosis	Short stature, Abnormal pyramidal sign, Gait disturbance, Delayed puberty, Polydipsia, Failure to...	ORPHA:213
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, Trem...	ORPHA:206443
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Ataxia, Truncal titubation, Impaired vibration sensation...	ORPHA:88628
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Smith-Magenis Syndrome	Hyperactivity, Short stature, Impaired pain sensation, Abnormality of the outer ear, Self hugging...	OMIM:182290
Ataxia-Telangiectasia-Like Disorder 1	Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,...	OMIM:604391
Sulfite Oxidase Deficiency, Isolated	Generalized dystonia, Ataxia, Cerebral atrophy, Choreoathetosis, Hypertonia, Agitation, Hemiplegi...	OMIM:272300
Acetyl-Coa Acetyltransferase-2 Deficiency	Chorea	OMIM:614055
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hemiplegia/hemiparesis, Chorea, Optic atrophy, Choreoathetosis, Growth delay, Dystonia	ORPHA:289916
Chorea, Remitting, With Nystagmus And Cataract	Chorea	OMIM:601372
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy, Gait imbalance, Dysphagia, Loss of ambulation, Limb dysmetria, Hearing im...	ORPHA:329336
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Mild short stature,...	OMIM:620292
Cataract 11, Multiple Types	Chorea, Hypertonia	OMIM:610623
Alternating Hemiplegia Of Childhood	Dystonia, Ataxia, Anorexia, Aggressive behavior, Oral-pharyngeal dysphagia, Impulsivity, Tremor, ...	ORPHA:2131
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Pain insensitivity, Short stature, Aggressive behavior, Sensorineural hearing impa...	OMIM:600430
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Limb dystonia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral...	OMIM:601104
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Graves Disease, Susceptibility To, 1	Irritability, Hyperactivity, Polyphagia, Weight loss	OMIM:275000
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ataxia, Small for gestational age, Inability to walk, Cerebellar gliosis, Cerebral atrophy, Glios...	ORPHA:79243
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia, Hypoalbuminemia	OMIM:615508
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior	OMIM:615516
Retinitis Pigmentosa 54	Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin...	OMIM:613428
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Obesity And Hypopigmentation	Polyphagia, Obesity	OMIM:620195
Body Mass Index Quantitative Trait Locus 20	Polyphagia, Obesity	OMIM:618406
Leigh Syndrome	Cerebellar atrophy, Failure to thrive, Dystonia, Ataxia, Involuntary movements, Chorea, Sensorine...	ORPHA:506
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Hyperactivity, Impulsivity, Aggressive behavior, Spastic tetraparesis, Cryptorchidism, Hemiparesi...	OMIM:604317
Hypercholanemia, Familial 1	Failure to thrive, Rickets	OMIM:607748
Wagro Syndrome	Aggressive behavior, Obesity, Agitation, Low frustration tolerance, Compulsive behaviors, Low-set...	OMIM:612469
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Hyperactivity, Short stature, Aggressive behavior, Brain atrophy, Recurrent otitis media, Spastic...	OMIM:615286
Kleefstra Syndrome Due To A Point Mutation	Short stature, Uplifted earlobe, Large for gestational age, Self-injurious behavior, Gliosis, Fai...	ORPHA:261652
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia	ORPHA:324588
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Premature ovarian insufficiency, Short stature, Aggressive behavior, Irritability,...	ORPHA:391307
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Abn...	ORPHA:1215
7Q31 Microdeletion Syndrome	Speech apraxia, Hyperactivity, Torticollis, Postnatal growth retardation, Hypoplasia of the cochl...	ORPHA:251061
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Aminoacylase 1 Deficiency	Cerebellar atrophy, Hyperactivity, Sensorineural hearing impairment, Cerebral atrophy, Cerebral c...	OMIM:609924
Lamb-Shaffer Syndrome	Hyperactivity, Ataxia, Mild postnatal growth retardation, Optic atrophy, Abnormal temper tantrums...	ORPHA:530983
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Infantile Neuroaxonal Dystrophy	Cerebellar atrophy, Hyperactivity, Dystonia, Ataxia, Impulsivity, Spastic tetraparesis, Cerebella...	ORPHA:35069
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Optic disc pallor, Poor motor coordination, Parkinsonism, Cerebral atrophy, D...	ORPHA:79264
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism	OMIM:261550
Wolfram Syndrome	Ataxia, Sensorineural hearing impairment, Optic atrophy, Hypogonadism, Abnormal autonomic nervous...	ORPHA:3463
Familial Hyperaldosteronism Type I	Polydipsia, Tinnitus	ORPHA:403
Leukodystrophy, Hypomyelinating, 16	Optic disc pallor, Broad-based gait, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Choreoathet...	OMIM:617964
Epilepsy, Progressive Myoclonic, 8	Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Limb ataxia, Choreoathetosis, G...	OMIM:616230
Glutaryl-Coa Dehydrogenase Deficiency	Limb dystonia, Pallidal degeneration, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity...	ORPHA:25
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hyperactivity, Abnormal pinna morphology, Short stature, Aggressive behavior, Tremor, Cryptorchid...	OMIM:300354
Huntington Disease-Like 3	Caudate atrophy, Ataxia, Chorea, Unsteady gait, Abnormal pyramidal sign, Abnormality of extrapyra...	OMIM:604802
Chorea, Benign Familial	Chorea	OMIM:215450
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso...	OMIM:301013
Morm Syndrome	Hyperactivity, Aggressive behavior	ORPHA:75858
Renal Glucosuria	Polydipsia, Polyphagia	OMIM:233100
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Optic atrophy, Gliosis, Neurodegeneration, Spasticity, Neuronal loss in centr...	OMIM:616239
Cerebrotendinous Xanthomatosis	Axonal degeneration, Abnormal pyramidal sign, Gliosis, Ataxia, Parkinsonism, Depression, Gait dis...	ORPHA:909
Childhood Absence Epilepsy	Punding, Jerky head movements, Attention deficit hyperactivity disorder	ORPHA:64280
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Hyperactivity, Short stature, Aggressive behavior, Rigidity, Inability to walk, Choreoathetosis, ...	OMIM:620023
Shukla-Vernon Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive...	OMIM:301029
Webb-Dattani Syndrome	Hypernatremia	OMIM:615926
Lesch-Nyhan Phenotype With Normal Hgprt	Choreoathetosis, Self-mutilation, Hyperuricemia	OMIM:308950
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Obesity, Primary amenorrhea, Hypoplasia of the ovary, Emotional l...	ORPHA:179494
Bor Syndrome	Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th...	ORPHA:107
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
48,Xxyy Syndrome	Ataxia, Hypergonadotropic hypogonadism, Tremor, Cryptorchidism, Obesity, Depression, Azoospermia,...	ORPHA:10
Microcephaly 10, Primary, Autosomal Recessive	Cerebellar atrophy, Small for gestational age, Cerebral atrophy, Hypertonia, Gliosis, Intrauterin...	OMIM:615095
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:617182
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ...	ORPHA:101039
Combined Oxidative Phosphorylation Deficiency 13	Decreased nerve conduction velocity, Sensorineural hearing impairment, Growth delay, Choreoatheto...	OMIM:614932
Nabais Sa-De Vries Syndrome, Type 2	Posteriorly rotated ears, Failure to thrive in infancy, Chorea, Protruding ear, Hemiparesis, Micr...	OMIM:618829
Cri-Du-Chat Syndrome	Overfriendliness, Hyperactivity, Abnormal pinna morphology, Small for gestational age, Aggressive...	OMIM:123450
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Inability to walk, Prominent ear helix, Large earlobe, Occipital cortical atrophy, Myoclonus, Abn...	ORPHA:411986
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia	OMIM:613845
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Pigmentary retinopathy, Rod-cone dystrophy, Intention tremor	OMIM:614307
4Q21 Microdeletion Syndrome	Tremor, Growth delay, Self-injurious behavior, Low-set ears, Intrauterine growth retardation, Abn...	ORPHA:238750
D-Glyceric Aciduria	Chorea, Myoclonus, Brain atrophy, Spasticity, Hearing impairment	ORPHA:941
Intellectual Developmental Disorder, Autosomal Dominant 1	Ataxia, Short stature, Aggressive behavior, Postnatal growth retardation, Cupped ear, Protruding ...	OMIM:156200
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Broad-based gait, Hyperactivity, Aggressive behavior, Decreased body weight, Spasticity, Hearing ...	OMIM:300958
Intellectual Developmental Disorder, Autosomal Recessive 61	Hyperactivity, Posteriorly rotated ears, Clonus, Aggressive behavior, Babinski sign, Unsteady gai...	OMIM:617773
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Ogden Syndrome	Abnormal head movements, Shuffling gait	ORPHA:276432
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Posteriorly rotated ears, Ataxia, Aggressive behavior, Poor coordination, Obesity,...	OMIM:618430
Congenital Disorder Of Deglycosylation 1	Restlessness, Pain insensitivity, Involuntary movements, Oral-pharyngeal dysphagia, Chorea, Dysme...	OMIM:615273
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Joubert Syndrome 28	Optic disc pallor, Ataxia, Pigmentary retinopathy	OMIM:617121
Retinitis Pigmentosa 7	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v...	OMIM:608133
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Ataxia, Macular coloboma, Abnormal auditory evoked potentials, Macular atrophy...	OMIM:619260
Hypophosphatasia, Adult	Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra...	OMIM:146300
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hyperactivity, Short stature, Small for gestational age, Postnatal growth retardation, Congenital...	ORPHA:73272
Potocki-Lupski Syndrome	Hyperactivity, Short stature, Small for gestational age, Oral-pharyngeal dysphagia, Failure to th...	OMIM:610883
Landau-Kleffner Syndrome	Speech apraxia, Hyperactivity, Impulsivity, Aggressive behavior, Slurred speech, Depression, Gait...	ORPHA:98818
Supranuclear Palsy, Progressive, 2	Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Granulovacuola...	OMIM:609454
Senior-Loken Syndrome 4	Polydipsia	OMIM:606996
Cerebral Creatine Deficiency Syndrome 1	Speech apraxia, Broad-based gait, Dystonia, Aganglionic megacolon, Short stature, Aggressive beha...	OMIM:300352
Ck Syndrome	Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Irritability, Slender build	ORPHA:251383
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Restlessness, Abnormal circulating porphyrin concentration, Abnormal fear-induced b...	ORPHA:100924
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:610600
Niemann-Pick Disease Type C	Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Low frustration tolerance, Comp...	ORPHA:646
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Adenylosuccinase Deficiency	Cerebellar atrophy, Hyperactivity, Aggressive behavior, Inability to walk, Cerebral atrophy, Gait...	OMIM:103050
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia	OMIM:240200
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation, Facial palsy	ORPHA:2743
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation, Ataxia, Tremor, Dysmetria, Dysdiadochokinesis, Gait disturba...	ORPHA:96
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy, Ataxia	OMIM:616881
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:203400
Lissencephaly, X-Linked, 2	Spasticity, Gliosis, Decreased testicular size, Low-set ears	OMIM:300215
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:614180
New-Onset Refractory Status Epilepticus	Interictal EEG abnormality, Abnormal head movements, Multifocal epileptiform discharges, EEG with...	ORPHA:363558
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Cofs Syndrome	Abnormality of retinal pigmentation, Sensorineural hearing impairment, Optic atrophy	ORPHA:1466
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology, Hearing impairment	ORPHA:65
Combined Oxidative Phosphorylation Deficiency 14	Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral atrophy, Growth delay, Gliosis, Myoclonus,...	OMIM:614946
11Q22.2Q22.3 Microdeletion Syndrome	Posteriorly rotated ears, Low-set ears, Attention deficit hyperactivity disorder, Compulsive beha...	ORPHA:444002
Developmental And Epileptic Encephalopathy 109	Hyperactivity, Spasticity, Gait ataxia, Myoclonus, Intrauterine growth retardation, Crouch gait, ...	OMIM:620145
Metachromatic Leukodystrophy	Ataxia, Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Spastic tetrap...	OMIM:250100
Retinitis Pigmentosa 40	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613801
Canavan Disease	EEG abnormality, Abnormality of retinal pigmentation, Optic atrophy, Hearing impairment	ORPHA:141
Alexander Disease	Ataxia, Facial palsy, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, Depression, S...	ORPHA:58
Lennox-Gastaut Syndrome	EEG abnormality, Hyperactivity, EEG with focal sharp slow waves, Aggressive behavior	ORPHA:2382
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Chorea, Ataxia	OMIM:618683
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Obesity, Primary amenorrhea, Hypoplasia of the ovary, Polyphagia,...	ORPHA:66628
Ck Syndrome	Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Irritability, Slender build	OMIM:300831
Coffin-Siris Syndrome 6	Posteriorly rotated ears, Short stature, Tics, Low-set ears, Attention deficit hyperactivity diso...	OMIM:617808
Intellectual Developmental Disorder, Autosomal Dominant 52	Hyperactivity, Small for gestational age, Asymmetry of the ears, Bilateral cryptorchidism, Crypto...	OMIM:617796
Sandifer Syndrome	Abnormal head movements	ORPHA:71272
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Diabetes Insipidus, Neurohypophyseal	Gliosis	OMIM:125700
Optic Atrophy-Intellectual Disability Syndrome	Short stature, Optic nerve hypoplasia, Repetitive compulsive behavior, Optic atrophy, Protruding ...	ORPHA:401777
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Agitation, Polyphagia, Large for gestational age	ORPHA:324575
Intellectual Developmental Disorder, X-Linked 30	Restlessness, Hyperactivity, Short stature, Aggressive behavior, Clumsiness, Agitation, Macrotia	OMIM:300558
Bilateral Generalized Polymicrogyria	Short stature, Oculogyric crisis, Oral-pharyngeal dysphagia, Spastic tetraplegia, Eyelid myoclonu...	ORPHA:208447
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Short stature, Unsteady gait, Pica, Low-set ears, Spasticity, Recurrent hand flapping, Limb hyper...	OMIM:618480
Developmental And Epileptic Encephalopathy 40	Small for gestational age, Spastic tetraparesis, Choreoathetosis, Myoclonus, Intrauterine growth ...	OMIM:617065
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Rett Syndrome	Dystonia, Limb apraxia, Inability to walk, Bradykinesia, Agitation, Abnormal autonomic nervous sy...	ORPHA:778
Basal Ganglia Calcification, Idiopathic, 6	Choreoathetosis, Involuntary movements, Parkinsonism, Depression	OMIM:616413
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema	OMIM:180104
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a...	OMIM:618195
Adult-Onset Autosomal Dominant Leukodystrophy	Tremor, Impaired proprioception, Dysmetria, Gait ataxia, Intention tremor, Ataxia, Action tremor,...	ORPHA:99027
Nephronophthisis-Like Nephropathy 2	Polydipsia	OMIM:619468
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A...	OMIM:618220
Hyperkalemic Periodic Paralysis	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hypokalemia, Pare...	ORPHA:682
Hyperphenylalaninemia, Bh4-Deficient, B	Dystonia, Tremor, Rigidity, Choreoathetosis, Irritability, Hyperkinetic movements, Dysphagia, Lim...	OMIM:233910
Spastic Paraplegia 29, Autosomal Dominant	Impaired vibratory sensation, Lower limb spasticity, Hyperactivity, Clonus, Sensorineural hearing...	OMIM:609727
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ...	ORPHA:206594
X-Linked Intellectual Disability, Schimke Type	Short stature, Failure to thrive in infancy, Choreoathetosis, Spasticity, Cerebral cortical atrop...	ORPHA:85285
Hyperinsulinism Due To Ucp2 Deficiency	Agitation, Polyphagia, Large for gestational age	ORPHA:276556
Whipple Disease	Ataxia, Anorexia, Cachexia, Abnormal pyramidal sign, Depression, Myoclonus, Erectile dysfunction,...	ORPHA:3452
Inverted Duplicated Chromosome 15 Syndrome	Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Cryptorchidism, Self-bitin...	ORPHA:3306
Gand Syndrome	Hyperactivity, Tics, Inappropriate laughter	OMIM:615074
Mitochondrial Complex I Deficiency, Nuclear Type 16	Caudate atrophy, Optic atrophy, Spastic tetraplegia, Choreoathetosis, Dystonia, Intrauterine grow...	OMIM:618238
Familial Hyperaldosteronism Type Iii	Polydipsia, Tinnitus	ORPHA:251274
Pelizaeus-Merzbacher Disease, Connatal Form	Lower limb spasticity, Ataxia, Short stature, Inability to walk, Dystonic gait, Titubation, Glios...	ORPHA:280210
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ag...	ORPHA:897
Autosomal Recessive Spastic Paraplegia Type 15	Impaired vibratory sensation, Hand tremor, Pigmentary retinopathy, Pseudobulbar paralysis, Retina...	ORPHA:100996
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ataxia, Optic atrophy, Truncal ataxia, Pigmentary retinopathy, Dystonia	OMIM:252011
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Developmental And Epileptic Encephalopathy 71	Gliosis	OMIM:618328
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Cerebellar atrophy, Inability to walk, Cerebral atrophy, Bilateral conductive hearing impairment,...	OMIM:617802
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Aggressive behavior, Babinski sign, Scissor gait, Spastic tetraplegia, Dysmetria, Growth delay, F...	OMIM:619121
Developmental And Epileptic Encephalopathy 1	Dystonia, Spastic tetraparesis, Abnormal pyramidal sign, Choreoathetosis, Growth delay, Hypertoni...	OMIM:308350
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels	OMIM:617781
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation, Abnormality of the outer ear	ORPHA:2515
Intellectual Developmental Disorder, Autosomal Recessive 71	Cryptorchidism, Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618504
Immunodeficiency 83, Susceptibility To Viral Infections	Hemiparesis, Gliosis	OMIM:613002
Gitelman Syndrome	Salt craving, Ataxia, Paralysis, Vertigo, Growth delay, Paresthesia, Delayed puberty, Polydipsia,...	OMIM:263800
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy, Ataxia	ORPHA:3156
Panhypophysitis	Orthostatic hypotension, Decreased female libido, Sensorineural hearing impairment, Impotence, Po...	ORPHA:95513
13Q12.3 Microdeletion Syndrome	Hyperactivity, Short stature, Impaired pain sensation, Cryptorchidism, Obesity, Chronic otitis me...	ORPHA:412035
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	Chorea, Paroxysmal dyskinesia	ORPHA:79137
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Agitation, Polyphagia, Large for gestational age	ORPHA:276575
Isochromosomy Yq	Male infertility, Azoospermia, Decreased testicular size	ORPHA:98798
Proximal 16P11.2 Microdeletion Syndrome	Speech apraxia, Sensorineural hearing impairment, Obesity, Choreoathetosis, Attention deficit hyp...	ORPHA:261197
Nmda Receptor Encephalitis	Orthostatic hypotension, Dystonia, Involuntary movements, Oculogyric crisis, Orthostatic tachycar...	ORPHA:217253
Developmental And Epileptic Encephalopathy 84	Chorea, Babinski sign, Opisthotonus, Large earlobe, Dystonia, Spasticity	OMIM:618792
Chromosome 18Q Deletion Syndrome	Broad-based gait, Short stature, Failure to thrive in infancy, Tremor, Cryptorchidism, Sensorineu...	OMIM:601808
Cimdag Syndrome	Ataxia, Sensorineural hearing impairment, Chorea, Cerebral atrophy, Pontocerebellar atrophy, Hypo...	OMIM:619273
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Cerebellar atrophy, Lower limb spasticity, Diffuse cerebral atrophy, Ataxia, Inability to walk, O...	OMIM:617193
Ciliary Dyskinesia, Primary, 50	Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella...	OMIM:620356
Craniopharyngioma	Papilledema, Hypogonadotropic hypogonadism, Proportionate short stature, Postnatal growth retarda...	ORPHA:54595
Retinitis Pigmentosa	Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Sensorineural hearing ...	ORPHA:791
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Agitation, Polyphagia, Large for gestational age	ORPHA:276580
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Decreased testicular size, Restlessness, Lower limb spasticity, Broad-based gait, Aggressive beha...	ORPHA:251028
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Choreoacanthocytosis	Self-mutilation of tongue and lips due to involuntary movements, Caudate atrophy, Dystonia, Parki...	OMIM:200150
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s...	ORPHA:506353
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Aggressive behavior, EEG abnormality, Impaired social interactions, Attention defi...	OMIM:610042
Alazami Syndrome	Abnormal eating behavior, Postnatal growth retardation, Low-set ears, Abnormal repetitive manneri...	ORPHA:319671
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Postnatal growth retardation, Dysphoria, Poor coordination, D...	OMIM:620242
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Ataxia, Retinal degeneration	ORPHA:3363
Xq21 Microdeletion Syndrome	Stapes ankylosis, Abnormal chorioretinal morphology, Dilatated internal auditory canal, Chorioret...	ORPHA:1435
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with...	ORPHA:215
Mannosidosis, Alpha B, Lysosomal	Cerebellar atrophy, Corpus callosum atrophy, Sensorineural hearing impairment, Babinski sign, Abn...	OMIM:248500
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Broad-based gait, Short stature, Cupped ear, Limb ataxia, Self-injurious behavior, Low-set ears, ...	OMIM:617101
Ring Chromosome 14 Syndrome	Pigmentary retinopathy, Low-set ears	OMIM:616606
Leukodystrophy, Hypomyelinating, 2	Decreased motor nerve conduction velocity, Dystonia, Ataxia, Facial palsy, Head titubation, Rigid...	OMIM:608804
Alternating Hemiplegia Of Childhood 2	Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Dystonia, Hemiplegia	OMIM:614820
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Inability to walk, Abnormal repetitive mannerisms, Low-set ears	OMIM:613443
X-Linked Cerebral Adrenoleukodystrophy	Lower limb spasticity, Hyperactivity, Ataxia, Spastic tetraparesis, Inability to walk, Hoffmann s...	ORPHA:139396
7Q11.23 Microduplication Syndrome	Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Short stature, Aggressive behavi...	ORPHA:96121
Intellectual Developmental Disorder, Autosomal Recessive 74	Hyperactivity	OMIM:617169
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati...	OMIM:600785
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Aggressive behavior, Shyness, Macrotia, Self-injurious behavior, Recurrent otitis ...	ORPHA:449291
Myopathy, Mitochondrial, And Ataxia	Ataxia, Tremor, Inability to walk, Dysmetria, Limb ataxia, Distal sensory impairment, Pigmentary ...	OMIM:617675
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:177735
Cln3 Disease	Ataxia, Bull's eye maculopathy, Aggressive behavior, Optic atrophy, Pigmentary retinopathy, Shuff...	ORPHA:228346
Pelizaeus-Merzbacher Disease	Ataxia, Short stature, Cachexia, Failure to thrive in infancy, Optic atrophy, Choreoathetosis, Ga...	ORPHA:702
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Intellectual Developmental Disorder, Autosomal Recessive 13	Hyperactivity, Recurrent hand flapping, Bruxism	OMIM:613192
Glut1 Deficiency Syndrome 1	Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S...	OMIM:606777
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Cryptorchidism, Chorea, Spasticity, Dystonia	OMIM:613970
Mitochondrial Dna Depletion Syndrome 17	Cerebellar atrophy, Spastic tetraparesis, Chorea, Cerebral atrophy, Hemiballismus	OMIM:618567
Phenylketonuria	Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behavior...	OMIM:261600
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Abnormal retinal vascular...	ORPHA:1390
Succinic Semialdehyde Dehydrogenase Deficiency	Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Hyperkin...	OMIM:271980
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Severe Neurodegenerative Syndrome With Lipodystrophy	Hyperactivity, Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign,...	ORPHA:363400
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia	OMIM:264350
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation	ORPHA:35737
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Difficulty...	OMIM:600081
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Lower limb spasticity, Gliosis	OMIM:615119
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
Pettigrew Syndrome	Aggressive behavior, Sensorineural hearing impairment, Optic atrophy, Gait ataxia, Choreoathetosi...	OMIM:304340
Coffin-Siris Syndrome 7	Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Short stature, Low-set ears, Com...	OMIM:618027
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Torticollis, Ataxia, Small for gestational age, Babinski sign, Choreoathetosis, Limb dystonia, Fr...	OMIM:619054
Neonatal Adrenoleukodystrophy	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Sensorineural hearing imp...	ORPHA:44
Retinitis Pigmentosa 46	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels	OMIM:612572
Diprosopus	External ear malformation, Abnormality of retinal pigmentation	ORPHA:1681
Hijazi-Reis Syndrome	Lower limb spasticity, Postnatal growth retardation, Ankle clonus, Gait disturbance, Abnormal rep...	OMIM:301094
Mitochondrial Dna-Associated Leigh Syndrome	Dystonia, Ataxia, Sensorineural hearing impairment, Chorea, Optic atrophy, Gait ataxia, Hypertoni...	ORPHA:255210
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL...	OMIM:267700
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic disc pallor, Exaggerated startle response, Optic atrophy, Impaired vibration sensation in t...	ORPHA:320406
Oliver-Mcfarlane Syndrome	Pigmentary retinopathy, Central heterochromia, Retinal degeneration	OMIM:275400
Combined Oxidative Phosphorylation Deficiency 32	Cerebellar atrophy, Dystonia, Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Dysphagi...	OMIM:617664
Radio-Tartaglia Syndrome	Ataxia, Impulsivity, Aggressive behavior, Tremor, Obesity, Large earlobe, Gait imbalance, Low-set...	OMIM:619312
Spermatogenic Failure 38	Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h...	OMIM:618433
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Neurogenic bladder, Involuntary movements, Optic nerve hypoplasia, Dysphagia, Spasticity, Abnorma...	ORPHA:572013
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Cryptorchidism, Gait ataxia, Low frustration tolerance, Spasticity, Macrotia, Abno...	OMIM:300486
Hypocalcemic Vitamin D-Resistant Rickets	Recurrent fractures, Osteomalacia, Bone cyst, Osteolysis, Gait disturbance, Abnormal adipose tiss...	ORPHA:93160
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Leukodystrophy, Hypomyelinating, 6	Cerebellar atrophy, Ataxia, Short stature, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dyst...	OMIM:612438
Spongiform Encephalopathy With Neuropsychiatric Features	Gliosis, Parkinsonism, Aggressive behavior	OMIM:606688
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia, Retinal detachment, Optic nerve hypoplasia	OMIM:620157
Bardet-Biedl Syndrome 17	Polydipsia, Poor coordination, Hypogonadism, Obesity	OMIM:615994
Intellectual Developmental Disorder, Autosomal Dominant 34	Broad-based gait, Abnormal repetitive mannerisms, Bruxism, Hearing impairment	OMIM:616351
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:556037
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Failure to thrive, Rickets	OMIM:602722
Oligomeganephronia	Polydipsia, Optic disc coloboma, Small for gestational age, Hearing impairment	ORPHA:2260
Paternal Uniparental Disomy Of Chromosome 1	Pain insensitivity, Polyphagia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:251004
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Hyperactivity, Broad-based gait, Ataxia, Tongue thrusting, Pica, Unsteady gait, Stereotypical bod...	OMIM:617865
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling, Sensorineural hearing impairment	OMIM:234580
Childhood Disintegrative Disorder	Abnormal repetitive mannerisms, Impaired social interactions	ORPHA:168782
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Overweight, Repetitive compulsive behavior, Oromotor apraxia, Abnormality of the ear, Attention d...	ORPHA:391372
Episodic Kinesigenic Dyskinesia 3	Choreoathetosis, Torticollis, Involuntary movements, Dystonia	OMIM:620245
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Pantothenate Kinase-Associated Neurodegeneration	Limb dystonia, Dystonia, Bull's eye maculopathy, Impulsivity, Optic atrophy, Craniofacial dystoni...	ORPHA:157850
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Galloway-Mowat Syndrome 6	Cerebellar atrophy, Short stature, Growth delay, Decreased body weight, Intrauterine growth retar...	OMIM:618347
Late Infantile Neuronal Ceroid Lipofuscinosis	Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, EEG with photoparoxysmal response,...	ORPHA:168491
Ramon Syndrome	Conductive hearing impairment, Abnormality of retinal pigmentation, Sensorineural hearing impairment	ORPHA:3019
Intellectual Developmental Disorder, Autosomal Dominant 43	Attached earlobe, Hyperactivity, Ataxia, Impulsivity, Aggressive behavior, Microtia, Dystonia, Fr...	OMIM:616977
Distal Deletion 10Q	Congenital sensorineural hearing impairment, Cochlear malformation, Protruding ear, Low-set ears,...	ORPHA:96148
Spinocerebellar Ataxia Type 27	Akinesia, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Truncal ataxia	ORPHA:98764
Distal Renal Tubular Acidosis	Short stature, Paralysis, Sensorineural hearing impairment, Growth delay, Polydipsia, Failure to ...	ORPHA:18
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Failure to thrive, Hypogonadotropic hypogonadism, Short stature, Small for gestational age, Impai...	ORPHA:98793
Developmental And Epileptic Encephalopathy 29	Short stature, Chorea, Cerebral atrophy, Blepharospasm, Limb dystonia, Intrauterine growth retard...	OMIM:616339
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Choreoathetosis, Irritability, Spasticity, Dystonia	OMIM:614249
Neurodegeneration With Brain Iron Accumulation 1	Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso...	OMIM:234200
Rasmussen Subacute Encephalitis	Hyperactivity, Involuntary movements, Hemidystonia, Inability to walk, Hemiparesis, Irritability,...	ORPHA:1929
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anorexia, Optic atrophy, Choreoathetosis, Dystonia, Failure to thrive	ORPHA:79312
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Failure to thrive, Hypogonadotropic hypogonadism, Short stature, Small for gestational age, Impai...	ORPHA:177904
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Failure to thrive, Ataxia, Osteoporosis, Rickets	OMIM:560000
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism, Hyperactivity, Impulsivity, Uplifted earlobe	OMIM:300143
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cerebellar atrophy, Optic disc pallor, Small for gestational age, Inability to walk, Chorea, Ocul...	ORPHA:404454
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Failure to thrive, Hypogonadotropic hypogonadism, Short stature, Small for gestational age, Impai...	ORPHA:177901
Developmental And Epileptic Encephalopathy 78	Inability to walk, Chorea, Cerebral palsy, Spasticity	OMIM:618557
Oromandibular Dystonia	Limb dystonia, Torticollis, Generalized dystonia, Bruxism, Depression, Blepharospasm, Weight loss...	ORPHA:93958
Combined Oxidative Phosphorylation Defect Type 13	Decreased nerve conduction velocity, Sensorineural hearing impairment, Choreoathetosis, Lower lim...	ORPHA:319514
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypogonadotropic hypogonadism, Short stature, Small for gestational age, Impaired temperature sen...	ORPHA:98754
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor...	OMIM:618825
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Mcleod Syndrome	Chorea, Depression, Compulsive behaviors, Dystonia, Impaired vibration sensation at ankles	OMIM:300842
Intellectual Developmental Disorder, X-Linked 98	Lower limb spasticity, Hyperactivity, Failure to thrive, Ataxia, Aggressive behavior, Postnatal g...	OMIM:300912
Primary Unilateral Adrenal Hyperplasia	Polydipsia, Tinnitus	ORPHA:231580
Retinitis Pigmentosa 6	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312612
Dilated Cardiomyopathy With Ataxia	Lower limb spasticity, Dystonia, Ataxia, Bilateral cryptorchidism, Repetitive compulsive behavior...	ORPHA:66634
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:109120
Congenital Myopathy 9A	Obesity, Akinesia	OMIM:618822
Mitochondrial Complex I Deficiency, Nuclear Type 28	Cerebellar atrophy, Optic disc pallor, Lower limb spasticity, Optic neuropathy, Akinesia, Optic a...	OMIM:618249
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Acute hyperammonemia, Ataxia, Hyperglutaminemia, Hyperammonemia, Agitation, Hyperalaninemia, Abno...	ORPHA:927
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Deafness, Unilateral	Unilateral deafness	OMIM:125000
Congenital Myopathy 12	Small for gestational age, Akinesia, Jaw contracture, Camptodactyly, Joint contracture of the hand	OMIM:612540
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:556030
Snakebite Envenomation	Hyponatremia, Pseudobulbar paralysis, Neuromuscular dysphagia	ORPHA:449285
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Restlessness, Hyperactivity, Incoordination, Ataxia, Short stature, Hearing impairment, Aggressiv...	ORPHA:369891
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Inability to walk, Chorea, Tip-toe gait, Brachial plexus neuropathy, Dysphagia	ORPHA:268
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst...	OMIM:613810
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Cerebellar atrophy, Neurogenic bladder, Dystonia, Ataxia, Optic atrophy, Tetraplegia, Growth dela...	ORPHA:496641
X-Linked Intellectual Disability, Cantagrel Type	Abnormal repetitive mannerisms	ORPHA:85277
Waardenburg Syndrome, Type 2E	Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul...	OMIM:611584
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebellar atrophy, Ataxia, Postural tremor, Short stature, Babinski sign, Truncal obesity, Lower...	OMIM:301072
Insulin-Like Growth Factor I Deficiency	Hyperactivity, Short stature, Postnatal growth retardation, Sensorineural hearing impairment, Dec...	OMIM:608747
Intellectual Developmental Disorder, Autosomal Dominant 48	Hyperactivity, Sensorineural hearing impairment, Low-set ears, Recurrent otitis media, Intrauteri...	OMIM:617751
Diets-Jongmans Syndrome	Short stature, Aggressive behavior, Cryptorchidism, Gliosis, Long ear, Attention deficit hyperact...	OMIM:618846
Thrombotic Thrombocytopenic Purpura, Hereditary	Tremor, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:274150
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Difficulty...	OMIM:241530
Snijders Blok-Campeau Syndrome	Speech apraxia, Broad-based gait, Unsteady gait, Attention deficit hyperactivity disorder, Low-se...	OMIM:618205
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Ataxia	ORPHA:1173
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Hyperkinetic moveme...	ORPHA:522077
3-Methylglutaconic Aciduria Type 3	Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis	ORPHA:67047
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Incoordination, Impaired pain sensation, Gait ataxia, Low-set ears, Brain atrophy, Abnormal repet...	OMIM:616579
Multiple Acyl-Coa Dehydrogenase Deficiency	Inability to walk, Abnormal pinna morphology, Gliosis, Dysphagia	ORPHA:26791
Angelman Syndrome Due To A Point Mutation	Broad-based gait, Hypopigmentation of hair, Ataxia, Abnormal eating behavior, Tongue thrusting, E...	ORPHA:411511
Acquired Central Diabetes Insipidus	Polydipsia, Weight loss	ORPHA:95626
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Rickets, Osteomalacia	OMIM:193100
Chromosome 22Q13 Duplication Syndrome	Emotional lability, Attention deficit hyperactivity disorder, Polyphagia, Impulsivity	OMIM:615538
Sim1-Related Prader-Willi-Like Syndrome	Hypogonadotropic hypogonadism, Impaired temperature sensation, Cryptorchidism, Obesity, Primary a...	ORPHA:398079
Herpes Simplex Virus Encephalitis	Hyponatremia, Addictive alcohol use, Elevated circulating C-reactive protein concentration	ORPHA:1930
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615637
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Torticollis, Dystonia, Optic nerve hypoplasia, Postnatal growth retardation, Inab...	ORPHA:300570
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Inability to walk, Exaggerated startle response, Optic atrophy, Optic disc pallor	OMIM:609541
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia	ORPHA:91354
5Q14.3 Microdeletion Syndrome	Frontal cortical atrophy, Abnormal repetitive mannerisms, Optic nerve hypoplasia	ORPHA:228384
Alg8-Cdg	Hyponatremia, Optic atrophy, Ataxia	ORPHA:79325
Histidinemia	Hyperactivity	ORPHA:2157
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Inguinal hernia, Abnormality of subcutaneous fat tissue, Osteomalacia, Femoral hernia...	ORPHA:1901
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia	ORPHA:199296
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Dystonia, Gait disturbance, Abnormal autonomic nervous system physiology, Agitation, Bruxism, Rec...	OMIM:617903
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Congenital sensorineural hearing impairment, Retinal pigment ep...	ORPHA:52427
Rheumatic Fever	Anorexia, Chorea, Gait disturbance, Hemiballismus, Fasciculations	ORPHA:3099
Ochoa Syndrome	Cryptorchidism, Polydipsia	ORPHA:2704
Developmental And Speech Delay Due To Sox5 Deficiency	Aggressive behavior, Optic atrophy, Self-injurious behavior, Attention deficit hyperactivity diso...	ORPHA:313892
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Dystonia, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal...	ORPHA:64753
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Pain insensitivity, Aggressive behavior, Tremor, Self-injurious behavior, Compulsive behaviors, D...	OMIM:617061
Wolfram Syndrome 1	Ataxia, Tremor, Sensorineural hearing impairment, Optic atrophy, Pigmentary retinopathy, Dysphagia	OMIM:222300
2,4-Dienoyl-Coa Reductase Deficiency	Cerebellar atrophy, Incoordination, Ataxia, Clonus, Optic atrophy, Tetraplegia, Cerebral atrophy,...	OMIM:616034
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Obes...	ORPHA:98794
Classic Galactosemia	Male infertility, Premature ovarian insufficiency, Ataxia, Decreased fertility in females, Crypto...	ORPHA:79239
Pseudohypoparathyroidism Type 1A	Hypergonadotropic hypogonadism, Involuntary movements, Short stature, Sensorineural hearing impai...	ORPHA:79443
22Q11.2 Duplication Syndrome	Anterior creases of earlobe, Growth delay, Attention deficit hyperactivity disorder, Compulsive b...	ORPHA:1727
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Ataxia, Elevated circulating creatine kinase concentration, Optic neuropathy, Tremo...	OMIM:610505
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Juvenile Paget Disease	Abnormality of retinal pigmentation, Melanocytic nevus, Optic atrophy, Hearing impairment	ORPHA:2801
Hypophosphatemic Bone Disease	Rickets, Osteomalacia	OMIM:146350
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia, Optic atrophy	OMIM:608688
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Short stature, Aggressive behavior, Impaired pain sensation, Sensorineural hearing impairment, Ob...	ORPHA:293987
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C...	OMIM:272750
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Ataxia, EEG abnormality, Gait disturbance, Retinopathy	ORPHA:578
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr...	OMIM:602772
Secondary Short Bowel Syndrome	Aganglionic megacolon, Weight loss, Growth delay, Failure to thrive, Polyphagia	ORPHA:95427
Gomez-Lopez-Hernandez Syndrome	Hyperactivity, Posteriorly rotated ears, Ataxia, Short stature, Depression, Self-injurious behavi...	OMIM:601853
D-Glyceric Aciduria	Optic nerve hypoplasia, Sensorineural hearing impairment, Tongue thrusting, Spastic tetraplegia, ...	OMIM:220120
Teratoma, Pineal	Hemiparesis, Polydipsia	OMIM:273120
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Failure to thrive, Ataxia, Short stature, Aggressive behavior, Self-injurious behavior, Hypertoni...	OMIM:300986
White-Sutton Syndrome	Waddling gait, Hyperactivity, Posteriorly rotated ears, Optic nerve hypoplasia, Short stature, Ag...	OMIM:616364
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Posteriorly rotated ears, Facial palsy, Short stature, Abnormal repetitive manneri...	OMIM:615873
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Hyperkalemia	OMIM:614736
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Cerebral palsy, Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Hypertonia...	OMIM:618914
Laurence-Moon Syndrome	Pigmentary retinopathy, Ataxia, Chorioretinal atrophy	OMIM:245800
Branchiogenic Deafness Syndrome	Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens...	ORPHA:50815
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Failure to thrive, Rickets	OMIM:211600
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Unsteady gait, Falls, Gait imbalance, Loss of ambulation, Short stepp...	ORPHA:240094
Rauch-Steindl Syndrome	Attached earlobe, Hyperactivity, Short stature, Aggressive behavior, Prominent crus of helix, Pos...	OMIM:619695
Congenital Muscular Dystrophy With Intellectual Disability	Loss of ambulation, Pigmentary retinopathy, Facial palsy	ORPHA:370968
Magel2-Related Prader-Willi-Like Syndrome	Short stature, Impulsivity, Impaired temperature sensation, Cryptorchidism, Increased body weight...	ORPHA:398069
Marbach-Schaaf Neurodevelopmental Syndrome	Speech apraxia, Torticollis, Posteriorly rotated ears, Hemidystonia, Aggressive behavior, Tremor,...	OMIM:619680
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Restlessness, Hyperactivity, Pain insensitivity, Short stature, Failure to thrive, Aggressive beh...	OMIM:300534
Body Mass Index Quantitative Trait Locus 19	Polyphagia, Obesity	OMIM:617885
Cntnap2-Related Developmental And Epileptic Encephalopathy	Lower limb spasticity, Hyperactivity, Cerebral palsy, Ataxia, Aggressive behavior, Cerebellar ver...	ORPHA:163681
Retinitis Pigmentosa 2	Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c...	OMIM:312600
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,...	ORPHA:101
Allan-Herndon-Dudley Syndrome	Ataxia, Short stature, Small for gestational age, Failure to thrive in infancy, Cryptorchidism, B...	ORPHA:59
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
Congenital Disorder Of Glycosylation, Type Iia	Failure to thrive, Posteriorly rotated ears, Short stature, Aggressive behavior, Postnatal growth...	OMIM:212066
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Speech apraxia, Waddling gait, Cerebellar atrophy, Dystonia, Ataxia, Short stature, Tremor, Inabi...	OMIM:615356
Congenital Toxoplasmosis	Abnormality of retinal pigmentation, Hearing impairment	ORPHA:858
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612926
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma	ORPHA:231736
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation, Abnormal helix morphology	ORPHA:1259
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cerebellar atrophy, Cerebral atrophy, Gliosis, Brain atrophy, Limb dystonia, Basal ganglia gliosi...	OMIM:604377
Transketolase Deficiency	Proportionate short stature, Secondary amenorrhea, Self-injurious behavior, Attention deficit hyp...	ORPHA:488618
Fg Syndrome 3	Hyperactivity, Cryptorchidism, Sensorineural hearing impairment	OMIM:300406
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Cryptorchidism, Ab...	ORPHA:500159
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Optic atrophy, Hypopig...	ORPHA:2715
Glut1 Deficiency Syndrome 2	Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, Irritability, Dystonia	OMIM:612126
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Difficulty...	OMIM:264700
Sjögren-Larsson Syndrome	Retinopathy, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmenta...	ORPHA:816
Prader-Willi Syndrome	Hypogonadotropic hypogonadism, Short stature, Failure to thrive in infancy, Impaired pain sensati...	OMIM:176270
Vitamin D-Dependent Rickets, Type 2A	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Difficulty...	OMIM:277440
Macrocephaly-Developmental Delay Syndrome	Abnormal speech discrimination, Self-injurious behavior, Abnormal repetitive mannerisms, EEG with...	ORPHA:397612
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Failure to thrive, Short stature, Babinski sign, Cerebral atrophy, Prominent antihelix, Hypertoni...	OMIM:615802
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:171876
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Babinski sign, Li...	OMIM:608643
Pituitary Dermoid And Epidermoid Cysts	Abnormal central motor function, Oligozoospermia, Hypogonadism, Oligomenorrhea, Polydipsia, Ameno...	ORPHA:91351
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia	OMIM:108420
Infant Botulism	Hyponatremia, Anorexia, Dysphagia	ORPHA:178478
Den Hoed-De Boer-Voisin Syndrome	Lower limb spasticity, Posteriorly rotated ears, Ataxia, Tremor, Inability to walk, Overweight, O...	OMIM:619229
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:616950
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Macroorchidism, Attention deficit hyperactivity disorder, Oligozoospermia	ORPHA:3000
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Broad-based gait, Ataxia, Short stature, Small for gestational age, Aggressive behavior, Failure ...	ORPHA:268261
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Orthostatic Hypotension 1	Hypomagnesemia, Increased blood urea nitrogen	OMIM:223360
Eem Syndrome	Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy	ORPHA:1897
Adnp Syndrome	Short stature, Oral-pharyngeal dysphagia, Aggressive behavior, Cryptorchidism, Cerebral atrophy, ...	ORPHA:404448
Hypocalcemic Vitamin D-Dependent Rickets	Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp...	ORPHA:289157
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Failure to thrive, Rickets	OMIM:611590
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Aceruloplasminemia	Abnormality of retinal pigmentation, Torticollis, Ataxia, Akinesia, Tremor, Chorea, Craniofacial ...	ORPHA:48818
Chromosome 5P13 Duplication Syndrome	Posteriorly rotated ears, Small for gestational age, Self-injurious behavior, Compulsive behavior...	OMIM:613174
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Inability to walk, Sensorineural hearing impairment, Self-injurious behavior, Brain atrophy, Limb...	ORPHA:457351
Smith-Magenis Syndrome	Short stature, Failure to thrive in infancy, Impaired pain sensation, Obesity, Self-injurious beh...	ORPHA:819
Chromosome 15Q11.2 Deletion Syndrome	Ataxia, Short stature, Clumsiness, Attention deficit hyperactivity disorder, Compulsive behaviors...	OMIM:615656
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Hyperactivity, Aggressive behavior, Cryptorchidism, Sensorineural hearing impairment, Intrauterin...	OMIM:615824
Cockayne Syndrome Type 1	Ataxia, Tremor, Optic atrophy, Pigmentary retinopathy, Increased blood urea nitrogen	ORPHA:90321
Purine Nucleoside Phosphorylase Deficiency	Hyperactivity, Abnormal central motor function, Ataxia, Cerebral palsy, Sensorineural hearing imp...	ORPHA:760
Hereditary Coproporphyria	Hyponatremia, Abnormal circulating porphyrin concentration	ORPHA:79273
Arthrogryposis Multiplex Congenita 6	Arthrogryposis multiplex congenita, Akinesia	OMIM:619334
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Optic atrophy, Dysmetria, P...	OMIM:617988
Atypical Juvenile Parkinsonism	Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Short stepped shuffling gait	ORPHA:391411
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ata...	ORPHA:53583
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	EEG with parietal epileptiform discharges, Ataxia, Hypsarrhythmia, Head tremor, Continuous spike ...	OMIM:619428
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Chorea, Cerebral atrophy, Hyperkinetic movements, Difficulty walking, Truncal ataxia	ORPHA:369847
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Coloboma, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Somatic sensory dysfunction, Tremor, Dysmetria, Progressive cerebellar ataxia,...	ORPHA:502423
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Increased theta frequency activity in EEG, EEG with focal spikes, Attention deficit hyperactivity...	ORPHA:98784
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:214700
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Hypoalb...	OMIM:603553
Immunodeficiency 82 With Systemic Inflammation	Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Anorexia	OMIM:619381
Aceruloplasminemia	Torticollis, Ataxia, Chorea, Cogwheel rigidity, Blepharospasm, Abnormality of extrapyramidal moto...	OMIM:604290
Apparent Mineralocorticoid Excess	Intrauterine growth retardation, Polydipsia, Failure to thrive, Short stature	ORPHA:320
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Lower limb spasticity, Hyperactivity, Clonus, Hair-pulling, Protruding ear, Irritability, Hyperto...	ORPHA:447997
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma	ORPHA:2196
Snijders Blok-Fisher Syndrome	Cryptorchidism, Cupped ear, Opisthotonus, Choreoathetosis, Protruding ear, Spasticity	OMIM:618604
Gangliocytoma	Decreased female libido, Impotence, Paresthesia, Polyphagia, Amenorrhea	ORPHA:251937
Perry Syndrome	Short stepped shuffling gait, Akinesia, Weight loss	OMIM:168605
Intellectual Developmental Disorder, Autosomal Dominant 38	Ataxia, Aggressive behavior, Hair-pulling, Cerebral atrophy, Self-injurious behavior, Low-set ear...	OMIM:616393
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Waddling gait, Osteomalacia, Reduced bone mineral density, Hypophosphatemic rickets, Pathologic f...	ORPHA:157215
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Ataxia, Short-segment ag...	OMIM:609136
Hydroxykynureninuria	Congenital sensorineural hearing impairment, Hypertonia, Abnormal repetitive mannerisms	ORPHA:79155
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Broad-based gait, At...	ORPHA:206448
Spastic Tetraplegia And Axial Hypotonia, Progressive	Ataxia, Posteriorly rotated ears, Exaggerated startle response, Low-set ears	OMIM:618598
Systemic Lupus Erythematosus 17	Chorea	OMIM:301080
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Obstructive azoospermia	OMIM:301060
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye...	ORPHA:79432
Warsaw Breakage Syndrome	Optic disc coloboma, Hypoplasia of the cochlea, Cupped ear, Hearing impairment	OMIM:613398
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Legionnaires Disease	Hyponatremia, Ataxia, Anorexia	ORPHA:549
Primary Non-Essential Cutis Verticis Gyrata	Gliosis	ORPHA:357225
Gabriele-De Vries Syndrome	Waddling gait, Dystonia, Posteriorly rotated ears, Small for gestational age, Oral-pharyngeal dys...	ORPHA:506358
Pontocerebellar Hypoplasia Type 2	Paroxysmal dystonia, Oral-pharyngeal dysphagia, Babinski sign, Choreoathetosis, Lower limb hypert...	ORPHA:2524
Spermatogenic Failure 75	Male infertility, Non-obstructive azoospermia	OMIM:619949
Infantile Systemic Hyalinosis	Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor...	ORPHA:2176
Intellectual Disability-Strabismus Syndrome	Hyperactivity, Failure to thrive, Short stature, Impulsivity, Aggressive behavior, Cryptorchidism...	ORPHA:363528
Rett Syndrome	Dystonia, Short stature, Cachexia, Gait apraxia, Bruxism, Gait ataxia, Truncal ataxia, Spasticity...	OMIM:312750
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-...	OMIM:600132
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Sensorineural hearing impairment	ORPHA:3085
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Stankiewicz-Isidor Syndrome	Hyperactivity, Cryptorchidism, Abnormal optic disc morphology, Low-set ears, Hearing impairment	OMIM:617516
Norrie Disease	Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A...	ORPHA:649
Lethal Congenital Contracture Syndrome 2	Arthrogryposis multiplex congenita, Akinesia	OMIM:607598
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Pain insensitivity, Broad-based gait, Posteriorly rotated ears, Optic nerve hypoplas...	OMIM:620330
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia	OMIM:620103
Wolcott-Rallison Syndrome	Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia	ORPHA:1667
Tyrosinemia Type 1	Rickets of the lower limbs	ORPHA:882
16P12.1P12.3 Triplication Syndrome	Nail-biting, Hyperactivity, Bilateral cryptorchidism, Large earlobe, Low-set ears, Attention defi...	ORPHA:485405
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr...	OMIM:616469
Blepharophimosis-Impaired Intellectual Development Syndrome	Posteriorly rotated ears, Cryptorchidism, Low frustration tolerance, Attention deficit hyperactiv...	OMIM:619293
Birk-Landau-Perez Syndrome	Failure to thrive in infancy, Optic atrophy, Limb ataxia, Choreoathetosis, Growth delay, Difficul...	OMIM:617595
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Elevated circulating propionylcar...	OMIM:614857
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Hartsfield Syndrome	Hypernatremia	OMIM:615465
White-Sutton Syndrome	Cerebellar atrophy, Hyperactivity, Incoordination, Posteriorly rotated ears, Short stature, Aggre...	ORPHA:468678
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce...	ORPHA:411634
Cockayne Syndrome	Progressive gait ataxia, Hypertonia, Gliosis, Intention tremor, Ataxia, Cryptorchidism, Gait dist...	ORPHA:191
Kleefstra Syndrome 1	Abnormal pinna morphology, Aggressive behavior, Cryptorchidism, Obesity, Compulsive behaviors, Ab...	OMIM:610253
Developmental And Epileptic Encephalopathy 100	Chorea, Cerebral atrophy, Gait ataxia, Choreoathetosis, Myoclonus, Brain atrophy, Dysphagia, Abno...	OMIM:619777
Rabson-Mendenhall Syndrome	Short stature, Severe postnatal growth retardation, Intrauterine growth retardation, Polydipsia, ...	ORPHA:769
Weaver Syndrome	Cryptorchidism, Slurred speech, Poor fine motor coordination, Hydrocele testis, Hypertonia, Spast...	OMIM:277590
Megalocornea-Intellectual Disability Syndrome	Short stature, Ataxia, Sensorineural hearing impairment, Protruding ear, Abnormal repetitive mann...	ORPHA:2479
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
X-Linked Intellectual Disability, Cabezas Type	Hyperactivity, Broad-based gait, Short stature, Cachexia, Aggressive behavior, Tremor, Abnormal e...	ORPHA:85293
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Head titubation, Tremor, Rigidity, Inability to walk, Cerebral atrophy, G...	OMIM:618877
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Familial Acute Necrotizing Encephalopathy	Rigidity, Spastic tetraplegia, Hypertonia, Gliosis, Gait disturbance, Spasticity	ORPHA:88619
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypercalcemia, Anorexia, Hyperkalemia, Hyperuricemia	ORPHA:199299
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy...	OMIM:618173
Spinocerebellar Ataxia Type 21	Progressive cerebellar ataxia, Akinesia, Gait ataxia	ORPHA:98773
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:613983
Dystonia 9	Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia	OMIM:601042
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Sensorineural hearing impairment, Opt...	OMIM:268315
Hyperlysinemia	Hyperactivity, Neck hypertonia, Poor motor coordination, Short stature, Spastic tetraparesis, Tre...	ORPHA:2203
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Exaggerated startle response, Hearing impairment	OMIM:620114
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Cryptorchidism, Head-banging, Attention deficit hyperactivity disorder, Low-s...	OMIM:619103
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Exaggerated startle response, Facial-lingual fasciculations, Optic atrophy, Spasti...	OMIM:617281
Hereditary Renal Hypouricemia	Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Acute Intermittent Porphyria	Hyponatremia, Restlessness, Somatic sensory dysfunction, Tremor, Pseudobulbar paralysis	ORPHA:79276
Joubert Syndrome 3	Pigmentary retinopathy, Retinal dystrophy, Ataxia, Low-set ears	OMIM:608629
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede...	OMIM:617304
Pseudohypoparathyroidism Type 1C	Hypergonadotropic hypogonadism, Short stature, Obesity, Depression, Irritability, Paresthesia, Ol...	ORPHA:79444
16P11.2P12.2 Microdeletion Syndrome	Hyperactivity, Abnormal pinna morphology, Short stature, Impaired pain sensation, Tics, Low-set e...	ORPHA:261211
Vici Syndrome	Abnormality of retinal pigmentation, Sensorineural hearing impairment, Optic atrophy, EEG abnorma...	ORPHA:1493
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Abnormal repetitive mannerisms	ORPHA:529965
Japanese Encephalitis	Hyponatremia, Anorexia, Tremor, Opisthotonus, Choreoathetosis, Pill-rolling tremor, Dystonia	ORPHA:79139
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Inability to walk, Facial palsy, Pigmentary retinopathy	OMIM:613156
47,Xyy Syndrome	Male infertility, Hyperactivity, Impulsivity, Cryptorchidism, Oligozoospermia, Azoospermia, Low-s...	ORPHA:8
Foxg1 Syndrome Due To 14Q12 Microdeletion	Growth delay, Abnormal antihelix morphology, Abnormal repetitive mannerisms, Protruding ear	ORPHA:261144
Prader-Willi Syndrome	Short stature, Impaired temperature sensation, Cryptorchidism, Primary amenorrhea, Abdominal obes...	ORPHA:739
Acute Adrenal Insufficiency	Hyponatremia, Salt craving, Hypercalcemia, Anorexia, Hyperkalemia, Increased circulating renin le...	ORPHA:95409
3P25.3 Microdeletion Syndrome	Ataxia, Sensorineural hearing impairment, Abnormality of the outer ear, Attention deficit hyperac...	ORPHA:435638
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Hypertonia, Gliosis, Spastic tetraplegia, Tetraplegia	OMIM:608033
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Pontocerebellar Hypoplasia, Type 7	Ataxia, Cryptorchidism, Spastic paraplegia, Optic atrophy, Cerebral atrophy, Opisthotonus, Choreo...	OMIM:614969
Rabin-Pappas Syndrome	Hyponatremia, Retinal detachment, Optic nerve hypoplasia	OMIM:620155
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Optic atrophy, Hypokalemia, Hypocalcemia, Dysphagia	OMIM:617913
Multiple Pterygium Syndrome, Lethal Type	Vertebral fusion, Flexion contracture, Akinesia, Increased susceptibility to fractures	OMIM:253290
Hypophosphatemic Rickets, X-Linked Recessive	Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300554
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Glue ear, Patchy atrophy of the retinal pigment epithelium	ORPHA:1433
Xeroderma Pigmentosum, Complementation Group B	Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic atrophy, Pig...	OMIM:610651
Generalized Pustular Psoriasis	Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration	ORPHA:247353
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Cerebellar atrophy, Dystonia, Ataxia, Abnormal pinna morphology, Small for gestational age, Cereb...	OMIM:615471
Porphyria Variegata	Hyponatremia, Abnormal circulating porphyrin concentration, Somatic sensory dysfunction	ORPHA:79473
1P36 Deletion Syndrome	Low-set, posteriorly rotated ears, Short stature, Hemiplegia/hemiparesis, Sensorineural hearing i...	ORPHA:1606
Spinocerebellar Ataxia 21	Ataxia, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia	OMIM:607454
D-Bifunctional Protein Deficiency	Cerebellar atrophy, Decreased nerve conduction velocity, Corpus callosum atrophy, Gliosis, Low-se...	OMIM:261515
Molybdenum Cofactor Deficiency, Complementation Group B	Diffuse cerebral atrophy, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Growth delay, Irri...	OMIM:252160
Fetal Akinesia Deformation Sequence	Arthrogryposis multiplex congenita, Multiple joint contractures, Camptodactyly of finger, Akinesia	ORPHA:994
Neuromuscular Oculoauditory Syndrome	Posteriorly rotated ears, Decreased nerve conduction velocity, Chorioretinal lacunae, Sensorineur...	OMIM:618733
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Retinal fold, Protruding ear	OMIM:108145
Nephronophthisis 4	Growth delay, Polydipsia	OMIM:606966
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Impaired vibratory sensation, Abnormality of retinal pigmentation, Somatic sensory dysfunction, A...	ORPHA:466768
Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:427
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Polyphagia, Obesity	OMIM:609734
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Chorea	OMIM:616744
Mucopolysaccharidosis, Type Iiib	Hyperactivity, Aggressive behavior, Hearing impairment	OMIM:252920
Erdheim-Chester Disease	Polydipsia, Ataxia, Hypogonadotropic hypogonadism, Weight loss	ORPHA:35687
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Aggressive behavior	ORPHA:85327
Alpers-Huttenlocher Syndrome	Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa...	ORPHA:726
Developmental And Epileptic Encephalopathy 66	Cryptorchidism, Broad-based gait, Abnormal repetitive mannerisms	OMIM:618067
Phelan-Mcdermid Syndrome	Broad-based gait, Aggressive behavior, Impaired pain sensation, Tongue thrusting, Unsteady gait, ...	OMIM:606232
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Cholera	Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration	ORPHA:173
Maternal Uniparental Disomy Of Chromosome 4	Impaired vibratory sensation, Ataxia, Sensorineural hearing impairment, Impaired proprioception, ...	ORPHA:96180
Familial Dysautonomia	Hyponatremia, Optic atrophy, Ataxia, Impaired pain sensation	ORPHA:1764
Renal Hypoplasia	Polydipsia, Small for gestational age	ORPHA:93101
X-Linked Acrogigantism	Increased body mass index, Ataxia, Hypogonadism, Delayed puberty, Polyphagia	ORPHA:300373
Usher Syndrome	Abnormality of retinal pigmentation, Abnormal vestibular function, Ataxia, Sensorineural hearing ...	ORPHA:886
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia	ORPHA:83601
Pilarowski-Bjornsson Syndrome	Speech apraxia, Postnatal growth retardation, Abnormal repetitive mannerisms	OMIM:617682
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Waddling gait, Chorea, Difficulty walking, Truncal ataxia	ORPHA:369840
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Clonus, Protruding ear, Hypertonia, Tics, Otitis media, Compulsive behaviors, Decreased body weig...	OMIM:619475
Retinitis Pigmentosa 51	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:613464
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Short stature, Overweight, Sensorineural hearing impairment, Head-banging, Self-injurious behavio...	OMIM:619575
Bile Acid Synthesis Defect, Congenital, 1	Failure to thrive, Rickets	OMIM:607765
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Failure to thrive, Small for gestational age, Akinesia	OMIM:619147
Familial Glucocorticoid Deficiency	Hyponatremia, Hyperkalemia, Anorexia	ORPHA:361
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Osteomalacia, Rickets	OMIM:613388
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia	OMIM:613090
Papillorenal Syndrome	Sensorineural hearing impairment, Optic disc coloboma, Gliosis, Short stature	OMIM:120330
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ataxia, Aggressive behavior, Unsteady gait, Low frustration tolerance, Abnormal temper tantrums, ...	ORPHA:457279
Nephronophthisis 1	Growth delay, Polydipsia	OMIM:256100
Refsum Disease	Retinopathy, Abnormality of retinal pigmentation, Sensorineural hearing impairment, Ataxia	ORPHA:773
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Episodic Ataxia Type 1	Cerebellar atrophy, Vertigo, Poor coordination, Clumsiness, Choreoathetosis, Hypertonia, Tip-toe ...	ORPHA:37612
Otofaciocervical Syndrome 1	Conductive hearing impairment, Mixed hearing impairment, Cupped ear, Hypoplasia of the cochlea	OMIM:166780
Hyperparathyroidism, Neonatal Severe	Polydipsia, Failure to thrive	OMIM:239200
Arima Syndrome	Growth delay, Polydipsia, Optic atrophy, Ataxia	OMIM:243910
Hypotonia, Ataxia, And Delayed Development Syndrome	Speech apraxia, Cerebellar atrophy, Pain insensitivity, Broad-based gait, Posteriorly rotated ear...	OMIM:617330
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt...	ORPHA:2481
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Sensorineural hearing impairment	ORPHA:290
Gitelman Syndrome	Salt craving, Paralysis, Vertigo, Paresthesia, Delayed puberty, Polydipsia, Failure to thrive, Ti...	ORPHA:358
Hyperaldosteronism, Familial, Type Iii	Polydipsia	OMIM:613677
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence	OMIM:300029
Arthrogryposis, Distal, Type 2A	Cerebellar atrophy, Abnormal auditory evoked potentials, Hearing impairment	OMIM:193700
Adrenal Hypoplasia, Congenital	Hyponatremia	OMIM:300200
2Q37 Microdeletion Syndrome	Short stature, Obesity, Attention deficit hyperactivity disorder, Compulsive behaviors, Conductiv...	ORPHA:1001
Progressive Multifocal Leukoencephalopathy	Abnormal astrocyte morphology, Somatic sensory dysfunction, Weakness due to upper motor neuron dy...	ORPHA:217260
Angelman Syndrome	Hyperactivity, Broad-based gait, Ataxia, Limb tremor, Obesity, Clumsiness, Progressive gait ataxi...	OMIM:105830
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Dystonia, Ataxia, Small for gestational age, Tremor, Truncal ataxia, Dysmetria, Gliosis, Low-set ...	OMIM:220111
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Failure to thrive, Sensorineural hearing impairment, Polydipsia	OMIM:602522
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph...	ORPHA:206436
Parkinson Disease 17	Akinesia	OMIM:614203
Celiac Disease, Susceptibility To, 1	Ataxia, Osteoporosis, Rickets, Weight loss, Enamel hypoplasia, Failure to thrive	OMIM:212750
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Abnormal vestibular function, Broad-based gait, Ataxia, Impaired distal proprioception, Hypoesthe...	OMIM:607459
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia, Aggressive behavior, Tremor, Gait ataxia, Compulsive behaviors, Attention deficit ...	ORPHA:476126
Nephronophthisis 11	Growth delay, Polydipsia	OMIM:613550
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cerebellar atrophy, Ataxia, Cerebral atrophy, Depression, Gliosis, Emotional lability, Spasticity...	OMIM:124000
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Increased blood urea nitrogen	ORPHA:230
Renal Hypoplasia, Bilateral	Hyponatremia, Hyperkalemia	ORPHA:97362
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait, Abnormal vestibulo-ocular reflex	ORPHA:247234
Joubert Syndrome 8	Optic disc pallor, Ataxia, Pigmentary retinopathy	OMIM:612291
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Polydipsia, Hearing impairment	ORPHA:93111
Chédiak-Higashi Syndrome	Hyponatremia, Abnormality of retinal pigmentation, Somatic sensory dysfunction, Hypertriglyceride...	ORPHA:167
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Van Esch-O'Driscoll Syndrome	Cerebellar atrophy, Hypogonadotropic hypogonadism, Short stature, Impulsivity, Unilateral vocal c...	OMIM:301030
Unilateral Polymicrogyria	Abnormal posturing, Giant somatosensory evoked potentials, Pseudobulbar paralysis, Infantile sens...	ORPHA:268943
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Protruding ear	ORPHA:2518
Senior-Boichis Syndrome	Diffuse cerebral atrophy, Aggressive behavior, Agitation, Attention deficit hyperactivity disorde...	ORPHA:84081
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Low-set, posteriorly rotated ears, Optic disc pallor, Cerebellar atrophy, Severe short stature, O...	ORPHA:468631
Houge-Janssens Syndrome 3	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618354
Igg4-Related Retroperitoneal Fibrosis	Anorexia, Elevated circulating creatinine concentration, Elevated circulating C-reactive protein ...	ORPHA:49041
Multiple Acyl-Coa Dehydrogenase Deficiency	Abnormal pinna morphology, Gliosis	OMIM:231680
Leber Congenital Amaurosis 15	Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Eye poking,...	OMIM:613843
De Sanctis-Cacchione Syndrome	Severe short stature, Ataxia, Bilateral cryptorchidism, Sensorineural hearing impairment, Babinsk...	OMIM:278800
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation	OMIM:618056
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Freezing of gait, Akinesia	OMIM:619911
Bartter Syndrome, Type 2, Antenatal	Short stature, Small for gestational age, Macrotia, Paresthesia, Polydipsia, Failure to thrive	OMIM:241200
Ciliary Dyskinesia, Primary, 36, X-Linked	Chronic otitis media, Male infertility	OMIM:300991
Cystinosis, Nephropathic	Hyponatremia, Oral-pharyngeal dysphagia, Retinal pigment epithelial mottling, Reduced blood urea ...	OMIM:219800
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Short ear, Hyperactivity, Broad-based gait, Posteriorly rotated ears, Ataxia, Short stature, Aggr...	OMIM:614756
Senior-Loken Syndrome 3	Polydipsia	OMIM:606995
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Stiff Person Spectrum Disorder	Exaggerated startle response, Falls, Difficulty walking	ORPHA:3198
Lesch-Nyhan Syndrome	Dystonia, Short stature, Opisthotonus, Choreoathetosis, Self-injurious behavior, Abnormality of e...	OMIM:300322
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Osteomalacia	ORPHA:89937
21Q22.11Q22.12 Microdeletion Syndrome	Hyperactivity, Short stature, Failure to thrive in infancy, Postnatal growth retardation, Tongue ...	ORPHA:261323
Joubert Syndrome 6	Abnormal repetitive mannerisms, Retinal degeneration, Ataxia, Chorioretinal coloboma	OMIM:610688
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Ataxia, Involuntary movements, Choreoathetosis, Dystonia, Spasticity, Limb hypertonia	OMIM:615905
Mirage Syndrome	Hyponatremia, Hyperkalemia	OMIM:617053
Wiedemann-Steiner Syndrome	Hyperactivity, Short stature, Rhizomelia, Aggressive behavior, Postnatal growth retardation, Low ...	ORPHA:319182
Hypophosphatemic Rickets, X-Linked Dominant	Osteomalacia, Osteoarthritis, Enamel hypomineralization, Rickets, Hypophosphatemic rickets	OMIM:307800
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Sensorineural hearing impairment, Optic atrophy, Abnormality...	ORPHA:585
Spermatogenic Failure 28	Male infertility, Non-obstructive azoospermia, Decreased testicular size	OMIM:618086
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Self-biting	OMIM:618314
Kleefstra Syndrome	Short stature, Aggressive behavior, Chronic otitis media, Cryptorchidism, Obesity, Self-injurious...	ORPHA:261494
Holoprosencephaly	Hyponatremia, Chorea, Optic atrophy, Chorioretinal coloboma, Dystonia, Cyclopia, Iris coloboma	ORPHA:2162
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling, Restlessness	OMIM:619517
Necrotizing Enterocolitis	Hyponatremia	ORPHA:391673
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Dystonia, Generalized dystonia, Parkinsonism, Spastic tetraparesis, Inability to walk, Opisthoton...	OMIM:619653
Bainbridge-Ropers Syndrome	Failure to thrive, Posteriorly rotated ears, Cryptorchidism, Inability to walk, Growth delay, Sel...	OMIM:615485
Addison Disease	Hyponatremia, Salt craving, Hypercalcemia, Anorexia, Hyperkalemia, Increased circulating renin le...	ORPHA:85138
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:600151
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Joint contracture, Akinesia	OMIM:225790
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:90791
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing...	OMIM:610706
Mucopolysaccharidosis, Type Iiia	Hyperactivity, Hearing impairment	OMIM:252900
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Corticobasal Syndrome	Gait disturbance, Akinesia	ORPHA:454887
Chromosome Xq26.3 Duplication Syndrome	Polyphagia	OMIM:300942
Alg12-Cdg	Hyponatremia, Retinal detachment, Hypoalbuminemia, Hypocholesterolemia	ORPHA:79324
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Failure to thrive, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Ce...	OMIM:203700
Argininemia	Cerebellar atrophy, Hyperactivity, Anorexia, Postnatal growth retardation, Irritability, Progress...	OMIM:207800
Fibrous Dysplasia Of Bone	Thin bony cortex, Antalgic gait, Osteomalacia, Fibrous dysplasia of the bones, Rickets, Osteolysi...	ORPHA:249
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Posteriorly rotated ears, Postnatal growth retardation, Cryptorchidism, Sensorineural hearing imp...	OMIM:301040
Nephronophthisis 3	Polydipsia	OMIM:604387
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Recurrent otitis media, Male infertility	OMIM:618948
Pitt-Hopkins Syndrome	Incoordination, Cryptorchidism, Cupped ear, Gait ataxia, Self-injurious behavior, Thickened helic...	OMIM:610954
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation, EEG abnormality	ORPHA:1496
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina...	ORPHA:5
Dent Disease 1	Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300009
Molybdenum Cofactor Deficiency, Complementation Group A	Spastic tetraparesis, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Growth delay, Gliosis,...	OMIM:252150
Mitochondrial Complex I Deficiency, Nuclear Type 2	Ankle clonus, Gliosis, Falls, Difficulty walking, Dystonia	OMIM:618222
Gaucher Disease, Perinatal Lethal	Arthrogryposis multiplex congenita, Akinesia, Decreased body weight	OMIM:608013
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Lower limb spasticity, Large for gestational age, Spasticity, Upper limb spasticity, Gliosis, Ove...	OMIM:300868
Congenital Bile Acid Synthesis Defect Type 2	Failure to thrive, Rickets	ORPHA:79303
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets, Large for gestational age	OMIM:616026
Fanconi Renotubular Syndrome 3	Rickets	OMIM:615605
Chromosome 1P36 Deletion Syndrome, Distal	Optic disc pallor, Posteriorly rotated ears, Thickened helices, Asymmetry of the ears, Aggressive...	OMIM:607872
Mucopolysaccharidosis Type 3	Abnormal pyramidal sign, Hypertonia, Otitis media, Thickened helices, Conductive hearing impairme...	ORPHA:581
Citrullinemia Type Ii	Restlessness, Hyperactivity, Abnormal eating behavior, Aggressive behavior, Tremor, Delayed menar...	ORPHA:247585
Retinal Dystrophy With Or Without Macular Staphyloma	Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ...	OMIM:617547
Toxic Epidermal Necrolysis	Polydipsia, Weight loss, Dysphagia	ORPHA:537
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Failure to thrive, Posteriorly rotated ears, Cryptorchidism, Sensorineural hearing...	OMIM:619512
Vitamin B12-Unresponsive Methylmalonic Acidemia	Ataxia, Paraparesis, Optic atrophy, Choreoathetosis, Tetraparesis	ORPHA:27
Trisomy 10P	Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm...	ORPHA:171929
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Broad-based gait, Exaggerated startle response, Ataxia, External ear malformation, Dystonia	ORPHA:438216
Fanconi-Bickel Syndrome	Osteopenia, Failure to thrive, Rickets	ORPHA:2088
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Ataxia, Optic atrophy, Pigmentary retinopathy, Gait disturbance, Bilateral sensorineural hearing ...	ORPHA:436271
Isolated Succinate-Coq Reductase Deficiency	Loss of ambulation, Pigmentary retinopathy, Ataxia	ORPHA:3208
Insensitivity To Pain, Congenital, With Anhidrosis	Hyperactivity, Pain insensitivity, Abnormal autonomic nervous system physiology, Emotional labili...	OMIM:256800
Intellectual Developmental Disorder, Autosomal Dominant 29	Hyperactivity, Aggressive behavior, Cryptorchidism, Obesity, Self-injurious behavior, Hypertonia,...	OMIM:616078
Apert Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Abnormal semicircular canal morp...	ORPHA:87
Kearns-Sayre Syndrome	Pigmentary retinopathy, Sensorineural hearing impairment, Ataxia	OMIM:530000
Schinzel-Giedion Syndrome	Abnormality of the stapes, Aganglionic megacolon, Dysphagia, Hypsarrhythmia, Abnormal cochlea mor...	ORPHA:798
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir...	ORPHA:90038
Shigellosis	Hyponatremia, Abnormal blood ion concentration, Anorexia	ORPHA:810
Dpagt1-Cdg	Ataxia, Lipodystrophy, Akinesia, Inability to walk, Flexion contracture, Osteoporosis, Camptodact...	ORPHA:86309
Secondary Non-Traumatic Avascular Necrosis	Addictive alcohol use, Difficulty walking	ORPHA:399180
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Acute Promyelocytic Leukemia	Metrorrhagia, Anorexia, Vertigo, Weight loss, Addictive alcohol use	ORPHA:520
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Sensorineural hearing impairment, Incomplete partition of the cochlea type II	OMIM:617660
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Optic disc pallor, Small for gestational age, Cryptorchidism, Protruding ear, Birth length less t...	ORPHA:464311
Chromosome Xp11.3 Deletion Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels	OMIM:300578
Kufor-Rakeb Syndrome	Akinesia, Ataxia, Gait disturbance	OMIM:606693
Joubert Syndrome 1	Optic disc pallor, Hyperactivity, Hemifacial spasm, Ataxia, Aggressive behavior, Optic disc colob...	OMIM:213300
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Failure to thrive, Rickets, Osteomalacia	OMIM:227810
Sandhoff Disease	Orthostatic hypotension, Exaggerated startle response, Ataxia, Impaired temperature sensation, Ch...	OMIM:268800
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Hypomagnesemia 3, Renal	Polydipsia, Failure to thrive	OMIM:248250
Brucellosis	Small for gestational age, Anorexia, Abnormality of the peripheral nervous system, Orchitis, Chor...	ORPHA:1304
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Cerebellar atrophy, Multifocal epileptiform discharges, EEG with generalized sharp slow waves, Lo...	ORPHA:369837
Congenital Bile Acid Synthesis Defect Type 4	Tremor, Pigmentary retinopathy, Ataxia	ORPHA:79095
Manganese Poisoning	Gait disturbance, Akinesia	ORPHA:306682
Ring Chromosome Y Syndrome	Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab...	ORPHA:261529
Pancreatic Triacylglycerol Lipase Deficiency	Weight loss, Osteoporosis, Osteomalacia, Rickets	ORPHA:309031
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
Cockayne Syndrome A	Retinal atrophy, Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decrease...	OMIM:216400
Infantile Nephropathic Cystinosis	Growth delay, Polydipsia, Failure to thrive	ORPHA:411629
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation	ORPHA:1264
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
Dyrk1A-Related Intellectual Disability Syndrome	Optic disc pallor, Hyperactivity, Failure to thrive, Short stature, Small for gestational age, Cr...	ORPHA:464306
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Hyperkalemia	ORPHA:90790
Niemann-Pick Disease, Type C2	Dystonia, Ataxia, Dysphagia, Cataplexy, Spasticity, Abnormal repetitive mannerisms	OMIM:607625
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Hyperactivity, Posteriorly rotated ears, Short stature, Small for gestational age, Cryptorchidism...	OMIM:309590
Coffin-Lowry Syndrome	Abnormality of retinal pigmentation, Sensorineural hearing impairment, Optic atrophy, Protruding ...	ORPHA:192
Adenohypophysitis	Hyponatremia	ORPHA:95512
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Self-injurious behavior, Hypokalemia, Attention deficit hyperactivit...	ORPHA:534
Mucopolysaccharidosis Type 2	Otosclerosis, Papilledema, Abnormality of retinal pigmentation, Hyperactivity, Impulsivity, Aggre...	ORPHA:580
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Ataxia, Sensorineural hearing impairment, Optic atrophy, Pigmentary retinopathy, Truncal ataxia	OMIM:220110
Legius Syndrome	Hyperactivity, Short stature, Hearing impairment, Vestibular schwannoma, Attention deficit hypera...	ORPHA:137605
Ciliary Dyskinesia, Primary, 45	Male infertility	OMIM:618801
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Optic atrophy, Low-set ears, Dysphagia	OMIM:617301
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Neurodegeneration With Brain Iron Accumulation 5	Akinesia	OMIM:300894
Retinitis Pigmentosa 74	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:616562
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Classic Progressive Supranuclear Palsy Syndrome	Falls, Gait imbalance, Akinesia	ORPHA:240071
Helix Syndrome	Polydipsia	OMIM:617671
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling, Low-set ears	OMIM:617102
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia, Ataxia	OMIM:618426
Arthrogryposis Multiplex Congenita 5	Inguinal hernia, Akinesia, Flexion contracture, Elbow flexion contracture, Umbilical hernia, Camp...	OMIM:618947
Parathyroid Carcinoma	Polydipsia, Weight loss, Testicular neoplasm, Dysphagia	ORPHA:143
Ciliary Dyskinesia, Primary, 9	Recurrent otitis media, Chronic otitis media, Male infertility	OMIM:612444
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Micro Syndrome	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Optic atrophy, Retinal co...	ORPHA:2510
Vici Syndrome	Abnormal posturing, Sensorineural hearing impairment, Low-set ears, Dysphagia	OMIM:242840
Charge Syndrome	Low-set, posteriorly rotated ears, Hypogonadotropic hypogonadism, Facial palsy, Hearing impairmen...	ORPHA:138
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Pigmentary retinopathy, Rod-cone dystrophy, Abnormality of the ear	OMIM:268020
Mogs-Cdg	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy	ORPHA:79330
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Optic disc coloboma, Remnants of the hyaloid vascular system, Chorioretinal ...	OMIM:120200
Lipodystrophy, Congenital Generalized, Type 2	Macrotia, Polyphagia, Decreased fertility, Decreased fertility in females	OMIM:269700
Pituitary Apoplexy	Hyponatremia	ORPHA:95613
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Lipodystrophy, Congenital Generalized, Type 1	Macrotia, Polyphagia, Decreased fertility in females	OMIM:608594
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy	OMIM:619059
Mend Syndrome	Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Low-set ears, Abnormal s...	ORPHA:401973
Distal Duplication 17Q	Low-set, posteriorly rotated ears, Hyperactivity, Severe short stature, Short stature, Rhizomelia...	ORPHA:3379
Senior-Loken Syndrome 1	Polydipsia	OMIM:266900
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Cryptorchidism, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620073
Bardet-Biedl Syndrome	Low-set, posteriorly rotated ears, Pigmentary retinopathy, Hearing impairment	ORPHA:110
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling	OMIM:619649
Retinitis Pigmentosa 37	Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration	OMIM:611131
Plaa-Associated Neurodevelopmental Disorder	Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment...	ORPHA:521426
Cutis Laxa, Autosomal Recessive, Type Iid	Failure to thrive, Bilateral cryptorchidism, Protruding ear, Gliosis, Low-set ears, Macrotia	OMIM:617403
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Aggressive behavior, Sensorineural hearing impairment, Unsteady gait, Cerebral atrophy, Choreoath...	ORPHA:17
Kinsship Syndrome	Short stature, Spastic tetraparesis, Myoclonus, Low-set ears, Bruxism, Brain atrophy, Failure to ...	OMIM:619297
Early-Onset Autosomal Dominant Alzheimer Disease	Abnormal social behavior, Agitation, Disinhibition	ORPHA:1020
Spondyloenchondrodysplasia	Chorea, Short stature, Spasticity, Disproportionate short-trunk short stature	ORPHA:1855
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Retinal pigment epithelial mottling, Dystonia	OMIM:614105
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Posteriorly rotated ears, Brushfield spots, Sensorineural hearing impairment, ...	OMIM:214100
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response, Hearing impairment	OMIM:620327
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Chromosome 15Q25 Deletion Syndrome	Hyperactivity, Posteriorly rotated ears, Short stature, Cryptorchidism, Growth delay, Low-set ear...	OMIM:614294
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos...	ORPHA:289176
Galloway-Mowat Syndrome 9	Cerebellar atrophy, Choreoathetosis, Low-set ears, Macrotia, Cerebral cortical atrophy	OMIM:619603
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c...	ORPHA:168558
Autosomal Recessive Polycystic Kidney Disease	Growth delay, Polydipsia, Low-set ears	ORPHA:731
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Broad-based gait, Ataxia, Choreoathetosis, Difficulty walking, Dystonia, Cholesteatoma	OMIM:610978
Enhanced S-Cone Syndrome	Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema	OMIM:268100
X-Linked Hypophosphatemia	Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick...	ORPHA:89936
Monosomy 18Q	Failure to thrive, Astrocytoma, Short stature, Bilateral cryptorchidism, Sensorineural hearing im...	ORPHA:1600
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c...	ORPHA:289548
Spermatogenic Failure 14	Male infertility, Azoospermia	OMIM:615842
Prolidase Deficiency	Abnormality of retinal pigmentation, Abnormality of the middle ear, White forelock, Hearing impai...	ORPHA:742
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Hyperkalemia	ORPHA:293978
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperactivity, Small for gestational age, Hand tremor, Weight loss, Agitation	ORPHA:424
Abetalipoproteinemia	Impaired vibratory sensation, Abnormality of retinal pigmentation, Broad-based gait, Ataxia, Impa...	ORPHA:14
Ciliary Dyskinesia, Primary, 34	Male infertility, Immotile sperm	OMIM:617091
Retinitis Pigmentosa 75	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:617023
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Spermatogenic Failure, X-Linked, 4	Male infertility, Azoospermia	OMIM:301077
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Impaired pain sensation, Cryptorchidism, Attention deficit hyperactivity disorder, Decreased body...	OMIM:619005
Gorham-Stout Disease	Abnormality of the internal auditory canal, Hearing impairment	ORPHA:73
Bartter Syndrome Type 4	Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia	ORPHA:89938
Hyperparathyroidism-Jaw Tumor Syndrome	Polydipsia, Testicular neoplasm, Dysphagia	ORPHA:99880
Chromosome 6Pter-P24 Deletion Syndrome	Pigmentary retinopathy, Sensorineural hearing impairment, Posteriorly rotated ears, Low-set ears	OMIM:612582
Cardiospondylocarpofacial Syndrome	Posteriorly rotated ears, Congenital sensorineural hearing impairment, Fusion of middle ear ossic...	OMIM:157800
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Cryptorchidism, Obesity, Difficulty walking, Low-set ears, Overfolded helix, Abnormal repetitive ...	OMIM:618653
Proximal Renal Tubular Acidosis	Mild postnatal growth retardation, Short stature, Growth delay, Polydipsia, Failure to thrive	ORPHA:47159
Cohen Syndrome	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal dystrophy, Bull's eye macul...	OMIM:216550
Hypocalciuric Hypercalcemia, Familial, Type Iii	Multiple lipomas, Osteomalacia, Chondrocalcinosis	OMIM:600740
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hyperkalemia	OMIM:201810
Cockayne Syndrome B	Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conductio...	OMIM:133540
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Hyperkalemia	ORPHA:275761
Sheehan Syndrome	Hyponatremia	ORPHA:91355
Ciliary Dyskinesia, Primary, 18	Recurrent otitis media, Male infertility, Immotile sperm	OMIM:614874
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Repetitive compulsive behavior, Abnormal Eustachian tube morphology, Gait ataxi...	ORPHA:513456
Ciliary Dyskinesia, Primary, 14	Male infertility, Reduced sperm motility, Otitis media, Immotile sperm	OMIM:613807
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Cerebellar atrophy, Posteriorly rotated ears, Large for gestational age, Tremor, Cupped ear, Spas...	OMIM:614080
Developmental And Epileptic Encephalopathy 2	Inability to walk, Abnormal repetitive mannerisms, Myoclonus	OMIM:300672
Methanol Poisoning	Addictive alcohol use	ORPHA:31825
Mulibrey Nanism	Pigmentary retinopathy	OMIM:253250
Hallermann-Streiff Syndrome	Hyperactivity, Small for gestational age, Proportionate short stature, Cryptorchidism, Optic disc...	OMIM:234100
Postencephalitic Parkinsonism	Akinesia	ORPHA:97349
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Arthrogryposis multiplex co...	ORPHA:2671
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:605231
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Short sperm flagella, Coiled sperm flagella	OMIM:620197
Xeroderma Pigmentosum, Complementation Group A	Ataxia, Sensorineural hearing impairment, Distal sensory impairment, Choreoathetosis, Spasticity	OMIM:278700
Usher Syndrome Type 2	Sensorineural hearing impairment, Abnormality of the inner ear, Cerebral cortical atrophy, Subcor...	ORPHA:231178
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Rickets	OMIM:612089
Mucopolysaccharidosis, Type Ii	Recurrent otitis media, Papilledema, Abnormality of retinal pigmentation, Hearing impairment	OMIM:309900
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, S...	ORPHA:353281
Peroxisome Biogenesis Disorder 2A (Zellweger)	Brushfield spots, Pigmentary retinopathy, Optic nerve dysplasia, Abnormal helix morphology	OMIM:214110
Floating-Harbor Syndrome	Restlessness, Impulsivity, Aggressive behavior, Cochlear malformation, Compulsive behaviors, Low-...	ORPHA:2044
Early Infantile Epileptic Encephalopathy	Cerebellar atrophy, Hyperactivity, Diffuse cerebral atrophy, Tremor, Choreoathetosis, Self-injuri...	ORPHA:1934
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Inguinal hernia, Small for gestational age, Rickets, Reduced bone miner...	OMIM:613658
Fg Syndrome Type 1	Optic nerve hypoplasia, Sensorineural hearing impairment, Cupped ear, Microtia, Attention deficit...	ORPHA:93932
Arboleda-Tham Syndrome	Dystonia, Posteriorly rotated ears, Anteverted ears, Abnormal repetitive mannerisms, Bilateral cr...	OMIM:616268
Bardet-Biedl Syndrome 1	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Ataxia, Retinal dy...	OMIM:209900
Asparagine Synthetase Deficiency	Exaggerated startle response, Optic nerve hypoplasia, Tremor, EEG with burst suppression, Hypsarr...	OMIM:615574
Metachromatic Leukodystrophy, Late Infantile Form	Decreased nerve conduction velocity, Abnormal social behavior, Optic atrophy, Bilateral sensorine...	ORPHA:309256
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Sensorineural hearing impairment, A...	ORPHA:193
Mccune-Albright Syndrome	Recurrent fractures, Osteomalacia, Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia,...	ORPHA:562
Ataxia-Telangiectasia	Ataxia, Female hypogonadism, Short stature, Tremor, Inability to walk, Slurred speech, Choreoathe...	OMIM:208900
Familial Gestational Hyperthyroidism	Hyperactivity, Agitation, Hand tremor, Weight loss	ORPHA:99819
Dent Disease	Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	ORPHA:1652
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Low-set ears, Dystonia, Cherry red spot of the macula, Macrotia, He...	ORPHA:79255
Tay-Sachs Disease	Cherry red spot of the macula, Exaggerated startle response	OMIM:272800
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
Metachromatic Leukodystrophy, Juvenile Form	Decreased nerve conduction velocity, Abnormal social behavior, Optic atrophy, Bilateral sensorine...	ORPHA:309263
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Elevated cir...	OMIM:614643
Ethylene Glycol Poisoning	Ataxia, Facial palsy, Slurred speech, Euphoria, Addictive alcohol use, Myoclonus	ORPHA:31826
Prader-Willi Syndrome Due To Translocation	Hypogonadotropic hypogonadism, Short stature, Obesity, Head-banging, Abnormal temper tantrums, Sk...	ORPHA:177907
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Exaggerated startle response, Optic atrophy, Retinal dysplasia	OMIM:253800
Stiff-Person Syndrome	Exaggerated startle response, Opisthotonus, Vitiligo	OMIM:184850
Hereditary Sensory And Autonomic Neuropathy Type 4	Nail-biting, Hyperactivity, Orthostatic hypotension due to autonomic dysfunction, Pain insensitiv...	ORPHA:642
Occipital Horn Syndrome	Osteopenia, Inguinal hernia, Femoral hernia, Osteomalacia, Scarring, Hiatus hernia, Osteoporosis,...	ORPHA:198
Peroxisome Biogenesis Disorder 5A (Zellweger)	Brushfield spots, Sensorineural hearing impairment, Optic nerve dysplasia, Optic atrophy, Athetos...	OMIM:614866
Catastrophic Antiphospholipid Syndrome	Chorea	ORPHA:464343
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Posteriorly rotated ears, Optic atrophy, Low-set ears, Dysphagia	OMIM:617527
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hyperkalemia, Hypocalcemia	ORPHA:544482
Paroxysmal Nocturnal Hemoglobinuria	Decreased serum iron, Increased blood urea nitrogen, Unconjugated hyperbilirubinemia, Dysphagia, ...	ORPHA:447
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Isolated Osteopoikilosis	Addictive alcohol use	ORPHA:166119
Nijmegen Breakage Syndrome	Hyperactivity, Premature ovarian insufficiency, Glioma, Short stature, Neurodegeneration, Recurre...	OMIM:251260
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia	OMIM:277180
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia	OMIM:618252
African Trypanosomiasis	Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements,...	ORPHA:3385
Woodhouse-Sakati Syndrome	Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, S...	OMIM:241080
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Prot...	ORPHA:50
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	EEG with parietal focal spikes, Posteriorly rotated ears, Aggressive behavior, EEG with central f...	OMIM:301066
Monosomy 22Q13.3	Hyperactivity, Impaired pain sensation, Hair-pulling, Obesity, Bruxism, Cerebellar cortical atrop...	ORPHA:48652
Parkinson Disease 23, Autosomal Recessive Early-Onset	Akinesia	OMIM:616840
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Ataxia, Hearing abnormality, ...	ORPHA:636
Primary Ciliary Dyskinesia	Male infertility, Female infertility, Recurrent otitis media, Conductive hearing impairment, Abno...	ORPHA:244
Sandhoff Disease, Infantile Form	Cherry red spot of the macula, Exaggerated startle response	ORPHA:309155
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Perifoveal ring of hyperautofluorescence, Tympanosclerosis, Pigmentary retinopathy, Vitiligo	OMIM:240300
Alstrom Syndrome	Cone/cone-rod dystrophy, Progressive sensorineural hearing impairment, Pigmentary retinopathy, Ot...	OMIM:203800
Xeroderma Pigmentosum, Complementation Group D	Choreoathetosis, Sensorineural hearing impairment, Ataxia, Spasticity	OMIM:278730
Melas	Ataxia, Sensorineural hearing impairment, Optic atrophy, Pigmentary retinopathy, EEG abnormality,...	ORPHA:550
Liver Disease, Severe Congenital	Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti...	OMIM:619991
Acute Lung Injury	Addictive alcohol use	ORPHA:178320
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of retinal pigmentation, Anorexia, Melanocytic nevus, Multiple cafe-au-lait spots, Ge...	ORPHA:1969
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy, Sensorineural hearing impairment, Low-set ears, Protruding ear	OMIM:614230
Primrose Syndrome	Restlessness, Calcification of the auricular cartilage, Ataxia, Hypergonadotropic hypogonadism, S...	OMIM:259050
Coffin-Siris Syndrome 12	Overfolding of the superior helices, Posteriorly rotated ears, Facial palsy, Short stature, Crypt...	OMIM:619325
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas...	ORPHA:2526
48,Xxxy Syndrome	Chronic otitis media, Abnormal social behavior, Attention deficit hyperactivity disorder	ORPHA:96263
Noonan Syndrome	Low-set, posteriorly rotated ears, Hypogonadotropic hypogonadism, Short stature, Aplasia of the s...	ORPHA:648
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Pigmentary retinopathy, Optic atrophy, Retinal dysplasia	OMIM:613154
Classic Homocystinuria	Retinal detachment, Optic atrophy, Abnormality of retinal pigmentation, Anorexia	ORPHA:394
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Camptodactyly of finger, Osteomalacia, Rickets, Corneal scarring, Keloids, Pat...	OMIM:309000
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Posteriorly rotated ears, Short stature, Cryptorchidism, Hydrocele ...	OMIM:619522
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Short stature, Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Abnormal rep...	ORPHA:508498
Ciliary Dyskinesia, Primary, 19	Recurrent otitis media, Male infertility	OMIM:614935
Atelis Syndrome 2	Attention deficit hyperactivity disorder, Remnants of the hyaloid vascular system, Dysmetria	OMIM:620185
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system	OMIM:257910
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pigmentary retinopathy	OMIM:600462
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Postnatal growth retardation, Abn...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Postnatal growth retardation, Abn...	ORPHA:353277
Woodhouse-Sakati Syndrome	Streak ovary, Premature ovarian insufficiency, Delayed puberty, Protruding ear, Choreoathetosis, ...	ORPHA:3464
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Inability to walk, Disproportionate short stature, Opisthotonus, Hypertonia, Abnormal repetitive ...	ORPHA:508533
Menkes Disease	Intrauterine growth retardation, Chorea, Hypertonia, Spasticity	ORPHA:565
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ataxia, Macular coloboma, Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentat...	ORPHA:79282
Ogden Syndrome	Torticollis, Short stature, Postnatal growth retardation, Cryptorchidism, Cerebral atrophy, Protr...	OMIM:300855
Meier-Gorlin Syndrome 1	Microtia, Atresia of the external auditory canal, Low-set ears, Incomplete partition of the cochl...	OMIM:224690
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Tremor, Pigmentary retinopathy, Macrotia, Low-set ears	OMIM:277400
Werner Syndrome	Premature graying of hair, Abnormality of retinal pigmentation, White forelock	ORPHA:902
Primary Sjögren Syndrome	Depression, Chorea, Somatic sensory dysfunction, Abnormality of the peripheral nervous system	ORPHA:289390
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Recurrent otitis media, Male infertility	OMIM:619607
Primary Fanconi Renotubular Syndrome	Hypophosphatemic rickets, Weight loss, Osteomalacia, Increased susceptibility to fractures	ORPHA:3337
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Microcephaly 29, Primary, Autosomal Recessive	Emotional lability, Hyperactivity, Ataxia	OMIM:620047
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplasia, Vitritis, Abnorm...	ORPHA:2556
Staphylococcal Necrotizing Pneumonia	Addictive alcohol use	ORPHA:36238
Lowry-Wood Syndrome	Abnormality of retinal pigmentation	ORPHA:1824
Wilson Disease	Osteomalacia, Joint hypermobility, Osteoarthritis, Osteoporosis, Chondrocalcinosis	OMIM:277900
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Hyperkalemia, Hypochloremia	ORPHA:90794
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Posteriorly rotated ears, Spastic tetraparesis, Growth delay, Hypertonia, Intrauterine growth ret...	OMIM:301044
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Inability to walk, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:505248
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Acquired Aneurysmal Subarachnoid Hemorrhage	Addictive alcohol use	ORPHA:90065
Cartilage-Hair Hypoplasia	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Aganglionic megacolon, EE...	ORPHA:175
Wolf-Hirschhorn Syndrome	Abnormal pinna morphology, Short stature, Small for gestational age, Cryptorchidism, Sensorineura...	OMIM:194190
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy, Tip-toe gait	ORPHA:746
Familial Hypocalciuric Hypercalcemia	Lipoma, Osteomalacia, Chondrocalcinosis	ORPHA:405
Alström Syndrome	Hypoplasia of the Leydig cells, Otitis media, Severe sensorineural hearing impairment, Abnormal v...	ORPHA:64
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Tremor, Sensorineural hearing impairment, Protruding ear, Self-injurious behavior, Truncal obesit...	OMIM:612474
Ciliary Dyskinesia, Primary, 1	Conductive hearing impairment, Chronic otitis media, Male infertility	OMIM:244400
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:2235
Charge Syndrome	Mixed hearing impairment, Hypogonadotropic hypogonadism, Facial palsy, Aplasia of the semicircula...	OMIM:214800
Trisomy 18	Low-set, posteriorly rotated ears, Pointed helix, Abnormality of retinal pigmentation	ORPHA:3380
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility	ORPHA:2239
Mucopolysaccharidosis Type 2, Severe Form	Otosclerosis, Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Senso...	ORPHA:217085
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Dysmetria, Gait ataxia, Distal sensory impairment, Pigmentary retinopath...	OMIM:606721
Mucopolysaccharidosis Type 2, Attenuated Form	Otosclerosis, Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Senso...	ORPHA:217093
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy, Hearing impairment	OMIM:266270
Pierson Syndrome	Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Posterior lentic...	OMIM:609049
Khan-Khan-Katsanis Syndrome	Pigmentary retinopathy, Sensorineural hearing impairment, Dysphagia	OMIM:618460
Full Nf2-Related Schwannomatosis	Somatic sensory dysfunction, Remnants of the hyaloid vascular system, Hyperesthesia, Dysphagia	ORPHA:637
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy	OMIM:609015
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal nonattachment, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:221900
Koolen-De Vries Syndrome Due To A Point Mutation	Hearing impairment, Macrotia, Optic atrophy, Protruding ear, EEG with focal epileptiform discharg...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hearing impairment, Macrotia, Optic atrophy, Protruding ear, EEG with focal epileptiform discharg...	ORPHA:363958
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Systemic Lupus Erythematosus	Chorea, Depression	ORPHA:536
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation, Mixed hearing impairment, Sensorineural hearing impairment	OMIM:272460
Dihydropyrimidine Dehydrogenase Deficiency	Large earlobe, Abnormal social behavior, Multifocal epileptiform discharges, EEG abnormality	ORPHA:1675
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Tuberous Sclerosis Complex	Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Self-injurious b...	ORPHA:805
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Hyperkalemia, Decreased circulating renin level	OMIM:201750
Cirrhotic Cardiomyopathy	Addictive alcohol use	ORPHA:57777
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Anorexia, Macular...	ORPHA:91500
Pearson Syndrome	Ataxia, Pigmentary retinopathy, Dysphagia, Cafe-au-lait spot, Hyperpigmentation of the skin, Hear...	ORPHA:699
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Osteoporosis, Rickets	ORPHA:2636
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Complete Androgen Insensitivity Syndrome	Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility	ORPHA:99429
Fanconi Anemia, Complementation Group A	Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism, Hearing impairment	OMIM:227650
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	ORPHA:71212
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Short ear, Abnormal social behavior, Aggressive behavior	ORPHA:314647
Porphyria Cutanea Tarda	Addictive alcohol use	ORPHA:101330
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Loss of ambulation, Cryptorchidism, Unsteady gait, Abnormal repetitive mannerisms	OMIM:616682
Goodpasture Syndrome	Increased blood urea nitrogen	OMIM:233450
Mowat-Wilson Syndrome	Uplifted earlobe, Conductive hearing impairment, Abnormal repetitive mannerisms, Ataxia, Short st...	ORPHA:2152
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Retinal calcificat...	ORPHA:790
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response, Dysphagia, EEG with generalized slow activity	OMIM:618367
Proteus Syndrome	Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Retina...	ORPHA:744
Linear Skin Defects With Multiple Congenital Anomalies 1	Pigmentary retinopathy, Hearing impairment	OMIM:309801
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad-based gait, Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, Impaired pai...	ORPHA:261537
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Optic disc pallor, Broad-based gait, Exaggerated startle response, Dystonia, Inability to walk, D...	ORPHA:438213
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ...	ORPHA:90793
Partial Androgen Insensitivity Syndrome	Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction	ORPHA:90797
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Broad-based gait, Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, Impaired pai...	ORPHA:261552
45,X/46,Xy Mixed Gonadal Dysgenesis	Low-set, posteriorly rotated ears, Male infertility, Streak ovary, Unilateral cryptorchidism, Bil...	ORPHA:1772
Wiedemann-Rautenstrauch Syndrome	Ataxia, Posteriorly rotated ears, Optic disc hypoplasia, Tremor, Hearing abnormality, Optic atrop...	ORPHA:3455
Alagille Syndrome 1	Pigmentary retinopathy, Macrotia, Chorioretinal atrophy, Low-set ears	OMIM:118450
Generalized Arterial Calcification Of Infancy	Failure to thrive in infancy, Osteomalacia, Abnormal calcification of the carpal bones, Fused cer...	ORPHA:51608
46,Xy Partial Gonadal Dysgenesis	Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C...	ORPHA:251510
Neuroocular Syndrome	Lens coloboma, Remnants of the hyaloid vascular system, Iris coloboma, Attention deficit hyperact...	OMIM:619539
Atypical Werner Syndrome	Abnormality of retinal pigmentation, Patchy hypo- and hyperpigmentation, Premature graying of hai...	ORPHA:79474
Hardikar Syndrome	Mild hearing impairment, Vertigo, Pigmentary retinopathy	OMIM:301068
Microphthalmia, Syndromic 2	Retinal detachment, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:300166
Holoprosencephaly 2	Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma	OMIM:157170
Williams Syndrome	Low-set, posteriorly rotated ears, Macrotia, Sensorineural hearing impairment, Protruding ear, Co...	ORPHA:904

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 Myo7a

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Myo7a.

There are 8 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Myo7a^{tm1a(EUCOMM)Wtsi}	PMC7263671
A Novel Mouse Model of MYO7A USH1B Reveals Auditory and Visual System Haploinsufficiencies.	Frontiers in Neuroscience (November 2019)	Myo7a^{TM1b(EUCOMM)Wtsi} Myo7a^{TM1a(EUCOMM)Wtsi}	PMC6883748
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Myo7a^Hdb Myo7a^sh1-6J Myo7a^sh1-6J Myo7a^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Myo7a^{tm1a(EUCOMM)Wtsi} Myo7a^Hdb Myo7a^sh1-6J	PMC6459510
Mechanotransduction is required for establishing and maintaining mature inner hair cells and regulating efferent innervation.	Nature communications (October 2018)	Myo7a^{tm1a(EUCOMM)Wtsi}	PMC6167318
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction.	Nature communications (October 2017)	Myo7a^{tm1a(EUCOMM)Wtsi}	PMC5638796
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Myo7a^{tm1a(EUCOMM)Wtsi}	PMC5827107
Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen.	Nature communications (April 2014)	Myo7a^sh1-6J	PMC3996542

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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
Myo7a^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Myo7a^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Myo7a^sh1-6J	Deletion	ES Cells
Myo7a^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Myo7a^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

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: Myo7a MGI:104510

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Legacy Phenotype Associated Images

Human diseases caused by Myo7a mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data