Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Ngfr MGI:97323

Gene Summary

Name:

nerve growth factor receptor (TNFR superfamily, member 16)

Synonyms:

p75, Tnfrsf16, p75NGFR, p75 neurotrophin receptor, LNGFR, p75NTR

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased circulating triglyceride level	Ngfr^{tm1a(EUCOMM)Wtsi}	HET	Early adult	5.91×10^-05
abnormal gait	Ngfr^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	5.47×10^-15
decreased locomotor activity	Ngfr^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	6.03×10^-10
abnormal digit morphology	Ngfr^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.02×10^-08
limb grasping	Ngfr^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	8.45×10^-14
preweaning lethality, incomplete penetrance	Ngfr^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased circulating phosphate level	Ngfr^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	9.10×10^-05
abnormal eye morphology	Ngfr^{tm1a(EUCOMM)Wtsi}	HET	Early adult	7.26×10^-05
tremors	Ngfr^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.37×10^-06
abnormal retina morphology	Ngfr^{tm1a(EUCOMM)Wtsi}	HET	Early adult	8.17×10^-06
increased startle reflex	Ngfr^{tm1a(EUCOMM)Wtsi}	HET	Early adult	2.10×10^-06
limb grasping	Ngfr^{tm1b(EUCOMM)Wtsi}	HET	Early adult	7.86×10^-06
abnormal behavior	Ngfr^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.14×10^-07
decreased circulating alkaline phosphatase level	Ngfr^{tm1a(EUCOMM)Wtsi}	HET	Early adult	8.04×10^-06
decreased thigmotaxis	Ngfr^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.14×10^-07

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Brain	Wholemount images	heterozygote	100% (2 of 2)
Brainstem	Wholemount images	heterozygote	100% (2 of 2)
Cerebellum	Wholemount images	heterozygote	100% (2 of 2)
Eye	Wholemount images	heterozygote	50% (1 of 2)
Large intestine	Wholemount images	heterozygote	100% (2 of 2)
Lung	Wholemount images	heterozygote	Ambiguous
Oviduct	Wholemount images	heterozygote	50% (1 of 2)
Parathyroid gland	Wholemount images	heterozygote	100% (2 of 2)
Peripheral nervous system	Wholemount images	heterozygote	100% (2 of 2)
Small intestine	Wholemount images	heterozygote	100% (2 of 2)
Stomach	Wholemount images	heterozygote	100% (2 of 2)
Striatum	Wholemount images	heterozygote	100% (2 of 2)
Thymus	Wholemount images	heterozygote	50% (1 of 2)
Uterus	Wholemount images	heterozygote	50% (1 of 2)
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	0.0% (0 of 2)
Hypothalamus	N/A	heterozygote	Ambiguous
Kidney	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
Oral epithelium	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Testis	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	100% (2 of 2)
Brain	N/A	homozygote	100% (2 of 2)
Ear	N/A	heterozygote	0.0% (0 of 2)
Ear	N/A	homozygote	0.0% (0 of 2)
Embryo	N/A	heterozygote	100% (2 of 2)
Embryo	N/A	homozygote	100% (2 of 2)
Eye	N/A	heterozygote	50% (1 of 2)
Eye	N/A	homozygote	50% (1 of 2)
Footplate	N/A	heterozygote	Ambiguous
Footplate	N/A	homozygote	0.0% (0 of 2)
Forebrain	N/A	heterozygote	100% (2 of 2)
Forebrain	N/A	homozygote	100% (2 of 2)
Forelimb	N/A	heterozygote	100% (2 of 2)
Forelimb	N/A	homozygote	100% (2 of 2)
Handplate	N/A	heterozygote	Ambiguous
Handplate	N/A	homozygote	0.0% (0 of 2)
Head	N/A	heterozygote	100% (2 of 2)
Head	N/A	homozygote	100% (2 of 2)
Heart	N/A	heterozygote	Ambiguous
Heart	N/A	homozygote	Ambiguous
Hindbrain	N/A	heterozygote	100% (2 of 2)
Hindbrain	N/A	homozygote	100% (2 of 2)
Hindlimb	N/A	heterozygote	100% (2 of 2)
Hindlimb	N/A	homozygote	100% (2 of 2)
Liver	N/A	heterozygote	50% (1 of 2)
Liver	N/A	homozygote	50% (1 of 2)
Lung	N/A	heterozygote	50% (1 of 2)
Lung	N/A	homozygote	50% (1 of 2)
Mandibular process	N/A	heterozygote	50% (1 of 2)
Mandibular process	N/A	homozygote	50% (1 of 2)
Maxillary process	N/A	heterozygote	50% (1 of 2)
Maxillary process	N/A	homozygote	50% (1 of 2)
Midbrain	N/A	heterozygote	100% (2 of 2)
Midbrain	N/A	homozygote	100% (2 of 2)
Oral cavity	N/A	heterozygote	50% (1 of 2)
Oral cavity	N/A	homozygote	50% (1 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	homozygote	0.0% (0 of 2)
Tail somite	N/A	heterozygote	0.0% (0 of 2)
Tail somite	N/A	homozygote	0.0% (0 of 2)
Tail	N/A	heterozygote	100% (2 of 2)
Tail	N/A	homozygote	100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
vascular system	0.0%
white adipose tissue	0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	0.0%
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
oral cavity	0.0%
skin	0.0%
tail	0.0%
tail somite group	0.0%

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

View images

Echo

M-Mode Images

48 Images

View images

Adult LacZ

LacZ Images Wholemount

12 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

View images

Embryo LacZ

LacZ images wholemount

8 Images

View images

MicroCT E18.5

Embryo reconstruction

1 Images

View images

X-ray

XRay Images Hind Leg and Hip

1 Images

View images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

View images

Human diseases caused by Ngfr 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 Ngfr (0 diseases)
Human diseases predicted to be associated with Ngfr (1095 diseases)

No human diseases associated to this gene by orthology or annotation.

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

Disease	Matching phenotypes	Source
Auditory Neuropathy, Autosomal Dominant 1	Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn...	OMIM:609129
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex	OMIM:601071
Episodic Ataxia, Type 1	Incoordination, Elevated circulating creatine kinase concentration, Abnormality of the hand, Trem...	OMIM:160120
Deafness, Autosomal Recessive 104	Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit...	OMIM:616515
Deafness, Autosomal Dominant 11	Abnormal vestibular function, Vertigo, Bilateral sensorineural hearing impairment	OMIM:601317
Deafness, Autosomal Recessive 2	Abnormal vestibular function, Vertigo, Sensorineural hearing impairment	OMIM:600060
Deafness-Oligodontia Syndrome	Vertigo, Abnormality of the inner ear, Sensorineural hearing impairment	ORPHA:3230
Deafness, Autosomal Dominant 85	Sensorineural hearing impairment, Cochlear nerve hypoplasia	OMIM:620227
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
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 Dominant 56	Abnormal vestibular function, Sensorineural hearing impairment	OMIM:615629
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 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 49	Sensorineural hearing impairment, Progressive hearing impairment	OMIM:608372
Deafness, Mid-Tone Neural	Sensorineural hearing impairment, Progressive hearing impairment	OMIM:124700
Deafness, X-Linked 4	Sensorineural hearing impairment, High-frequency hearing impairment	OMIM:300066
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
Deafness, Autosomal Recessive 20	Sensorineural hearing impairment, Hearing impairment	OMIM:604060
Deafness, Autosomal Dominant 20	Progressive sensorineural hearing impairment, Bilateral sensorineural hearing impairment	OMIM:604717
Deafness, Autosomal Dominant 6	Progressive sensorineural hearing impairment, Low-frequency sensorineural hearing impairment	OMIM:600965
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
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 15	Sensorineural hearing impairment, Prelingual sensorineural hearing impairment	OMIM:601869
Deafness, Autosomal Recessive 79	Progressive sensorineural hearing impairment, Sensorineural hearing impairment	OMIM:613307
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Deafness, Autosomal Recessive 67	Sensorineural hearing impairment, Bilateral sensorineural hearing impairment	OMIM:610265
Deafness, Autosomal Recessive 35	Sensorineural hearing impairment, Abnormal ear morphology	OMIM:608565
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Deafness, Autosomal Dominant 4B	Abnormal vestibular function, Sensorineural hearing impairment	OMIM:614614
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Parkinson Disease 24, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Depres...	OMIM:619491
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness	Sensorineural hearing impairment, Optic atrophy	OMIM:136600
Spinocerebellar Ataxia 37	Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls	OMIM:615945
Deafness, Autosomal Dominant 9	Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment...	OMIM:601369
Deafness, Autosomal Dominant 73	Sensorineural hearing impairment	OMIM:617663
Deafness, Autosomal Recessive 17	Sensorineural hearing impairment	OMIM:603010
Deafness, Autosomal Recessive 8	Sensorineural hearing impairment	OMIM:601072
Deafness, Autosomal Recessive 26	Sensorineural hearing impairment	OMIM:605428
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 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 Recessive 66	Sensorineural hearing impairment	OMIM:610212
Deafness, Autosomal Recessive 5	Sensorineural hearing impairment	OMIM:600792
Deafness, Autosomal Recessive 59	Sensorineural hearing impairment	OMIM:610220
Deafness, Autosomal Dominant 59	Sensorineural hearing impairment	OMIM:612642
Deafness, Autosomal Recessive 61	Sensorineural hearing impairment	OMIM:613865
Deafness, Autosomal Recessive 117	Sensorineural hearing impairment	OMIM:619174
Deafness, Autosomal Recessive 22	Sensorineural hearing impairment	OMIM:607039
Deafness, Autosomal Dominant 21	Sensorineural hearing impairment	OMIM:607017
Deafness, Autosomal Dominant 68	Sensorineural hearing impairment	OMIM:616707
Deafness, Autosomal Recessive 97	Sensorineural hearing impairment	OMIM:616705
Deafness, Autosomal Recessive 42	Sensorineural hearing impairment	OMIM:609646
Deafness, Autosomal Dominant 66	Sensorineural hearing impairment	OMIM:616969
Deafness, Autosomal Dominant 44	Sensorineural hearing impairment	OMIM:607453
Deafness, Neural, Congenital Moderate	Sensorineural hearing impairment	OMIM:221500
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 112	Sensorineural hearing impairment	OMIM:618257
Deafness, Y-Linked 2	Sensorineural hearing impairment	OMIM:400047
Deafness, Autosomal Dominant 10	Sensorineural hearing impairment	OMIM:601316
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 31	Sensorineural hearing impairment	OMIM:607084
Deafness, Autosomal Dominant 13	Sensorineural hearing impairment	OMIM:601868
Deafness, Autosomal Dominant 27	Sensorineural hearing impairment	OMIM:612431
Deafness, Autosomal Recessive 98	Sensorineural hearing impairment	OMIM:614861
Deafness, Autosomal Recessive 116	Sensorineural hearing impairment	OMIM:619093
Deafness, Autosomal Recessive 23	Sensorineural hearing impairment	OMIM:609533
Intellectual Developmental Disorder, X-Linked 46	Sensorineural hearing impairment	OMIM:300436
Deafness, Autosomal Dominant 47	Sensorineural hearing impairment	OMIM:608652
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 Recessive 53	Sensorineural hearing impairment	OMIM:609706
Deafness, Autosomal Dominant 25	Sensorineural hearing impairment	OMIM:605583
Deafness, Autosomal Recessive 51	Sensorineural hearing impairment	OMIM:609941
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Deafness, Autosomal Recessive 119	Sensorineural hearing impairment	OMIM:619615
Worster-Drought Syndrome	Sensorineural hearing impairment, Abnormal cranial nerve morphology	ORPHA:3465
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu...	OMIM:614561
Deafness, Autosomal Recessive 37	Abnormal vestibular function, Sensorineural hearing impairment	OMIM:607821
Intellectual Developmental Disorder, Autosomal Recessive 48	Waddling gait, Aggressive behavior, Tremor, Inability to walk, Small hand, Inappropriate laughter...	OMIM:616269
Atypical Pantothenate Kinase-Associated Neurodegeneration	Limb dystonia, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Spas...	ORPHA:216873
Dystonia 12	Torticollis, Dystonia, Parkinsonism, Tremor, Unsteady gait, Depression, Bradykinesia, Dysphagia, ...	OMIM:128235
Spinal Muscular Atrophy, Jokela Type	Elevated circulating creatine kinase concentration, Tremor, Hammertoe, Fasciculations, Difficulty...	OMIM:615048
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Inappropriate behavior, Myoclonus, Dy...	ORPHA:401901
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Opticocochleodentate Degeneration	Optic atrophy, Cochlear degeneration, Hearing impairment	OMIM:258700
Sandhoff Disease, Adult Form	Dystonia, Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Focal dystonia...	ORPHA:309169
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking	OMIM:158580
Trichodentoosseous Syndrome	Microdontia, Taurodontia, Widely spaced teeth, Abnormal hair morphology	OMIM:190320
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology	DECIPHER:31
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy, Sensorineural hearing impairment	OMIM:208750
Nathalie Syndrome	Arrhythmia, Sensorineural hearing impairment	ORPHA:2663
Autosomal Recessive Spastic Paraplegia Type 27	Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials	ORPHA:101007
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Hypoparathyroidism, Familial Isolated, 1	Chvostek sign, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Anonychia-Microcephaly Syndrome	Carious teeth, Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnorm...	ORPHA:1094
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia	OMIM:617018
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Dystonia 11, Myoclonic	Torticollis, Writer's cramp, Tremor, Depression, Myoclonus, Compulsive behaviors	OMIM:159900
Intellectual Developmental Disorder, Autosomal Recessive 77	Unsteady gait, Head tremor, Self-biting	OMIM:619988
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Tooth Agenesis, Selective, 9	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
Dystonia 16	Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Dysphagia, Br...	ORPHA:210571
Pseudopseudohypoparathyroidism	Short distal phalanx of the 3rd finger, Short metatarsal, Hyperphosphatemia, Short 5th finger, Hy...	ORPHA:79445
Optic Atrophy 8	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s...	OMIM:616648
Deafness, Autosomal Dominant 87	Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II	OMIM:620281
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Tremor, Spastic paraplegia, Palmoplantar hyperkeratosis	OMIM:309560
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Cochlear degeneration	ORPHA:3233
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park...	OMIM:128230
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Gait disturbance, Tremor	OMIM:611808
Spinocerebellar Ataxia, Autosomal Recessive 3	Cochlear degeneration, Hearing impairment	OMIM:271250
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Dystonia 16	Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si...	OMIM:612067
Spinal Muscular Atrophy, Segmental	Abnormal anterior horn cell morphology	OMIM:183020
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal circulating calcium concentration, Abnormal pyra...	OMIM:213600
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Tremor, Spasticity, Babinski sign, Ataxia	OMIM:611105
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Trem...	ORPHA:276435
Spinocerebellar Ataxia Type 38	Tremor, Difficulty walking, Gait ataxia	ORPHA:423296
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo...	ORPHA:314632
Cyanide-Induced Parkinsonism-Dystonia	Resting tremor, Parkinsonism, Rigidity, Elbow flexion contracture, Bradykinesia, Falls, Shuffling...	ORPHA:306692
Melkersson-Rosenthal Syndrome	Facial palsy, Furrowed tongue	OMIM:155900
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Cardiomyopathy, Dilated, 1J	Sudden cardiac death, Congestive heart failure, Sensorineural hearing impairment, Dilated cardiom...	OMIM:605362
Parkinson Disease 22, Autosomal Dominant	Restless legs, Resting tremor, Rigidity, Depression, Bradykinesia, Gait disturbance, Parkinsonism...	OMIM:616710
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Hyperphosphatemia, Hypocalcemia, Brachydactyly	OMIM:603233
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Abnormality of t...	ORPHA:1515
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Loss of ambulation, Tremor, Fasciculations	OMIM:182980
Joubert Syndrome 13	Molar tooth sign on MRI	OMIM:614173
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls	ORPHA:494526
Urocanase Deficiency	Broad-based gait, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Spinocerebellar Ataxia Type 31	Tremor, Spasticity, Gait ataxia	ORPHA:217012
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia	OMIM:600116
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Bra...	ORPHA:521406
Tricho-Dento-Osseous Syndrome	Abnormal hair quantity, Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, ...	ORPHA:3352
Rapid-Onset Dystonia-Parkinsonism	Limb dystonia, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Depression, ...	ORPHA:71517
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Non-Syndromic Genetic Deafness	Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i...	ORPHA:87884
Migraine, Familial Hemiplegic, 1	Ataxia, Tremor, Hemiparesis, Agitation, Hemiplegia	OMIM:141500
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Autoimmune Hypoparathyroidism	Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Myoclonic spasms, Hypocalcemic tetany,...	ORPHA:36913
Spinocerebellar Ataxia Type 20	Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga...	ORPHA:101110
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetrapar...	OMIM:615924
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Spinocerebellar Ataxia Type 12	Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra...	ORPHA:98762
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia, Bilateral coxa valga	OMIM:620270
Dystonia 23	Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dystonia	OMIM:614860
Hyperphenylalaninemia, Bh4-Deficient, C	Dystonia, Hyperphenylalaninemia, Tremor, Choreoathetosis, Irritability, Hypertonia, Myoclonus, Dy...	OMIM:261630
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Spinocerebellar Ataxia, X-Linked 1	Ataxia, Unsteady gait, Abnormality of extrapyramidal motor function, Dysphagia, Intention tremor,...	OMIM:302500
Developmental And Epileptic Encephalopathy 97	Tremor, Inability to walk, Stereotypical hand wringing	OMIM:619561
Pierre Robin Syndrome	Glossoptosis, Pierre-Robin sequence, Cleft palate	OMIM:261800
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Myoclonic spasms, Hypocalcemic tetany, Laryngeal dys...	ORPHA:94090
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Spinocerebellar Ataxia 12	Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki...	OMIM:604326
Spinocerebellar Ataxia Type 37	Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturbance, Myoclonus, Truncal ataxia...	ORPHA:363710
Spinocerebellar Ataxia Type 28	Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Depres...	ORPHA:101109
Neurodegeneration With Brain Iron Accumulation 8	Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Spinocerebellar Ataxia 48	Dystonia, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Depression...	OMIM:618093
Hemiparkinsonism-Hemiatrophy Syndrome	Dystonia, Parkinsonism, Tremor, Depression, Bradykinesia, Hemiparesis, Hemiatrophy, Difficulty wa...	ORPHA:306669
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
X-Linked Non Progressive Cerebellar Ataxia	Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T...	ORPHA:314978
Lopes-Maciel-Rodan Syndrome	Dystonia, Tremor, Unsteady gait, Small hand, Bruxism, Abnormal pyramidal sign, Bradykinesia, Shor...	OMIM:617435
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Transient hyperphenylalanine...	OMIM:612716
Parkinsonism With Spasticity, X-Linked	Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity	OMIM:300911
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia	OMIM:264070
Tremor, Hereditary Essential, 6	Postural tremor, Kinetic tremor, Head tremor, Vocal tremor	OMIM:618866
Tremor, Hereditary Essential, 5	Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor	OMIM:616736
Taurodontism	Taurodontia	OMIM:272700
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity	OMIM:615768
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia, Hamme...	OMIM:618387
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu...	OMIM:617284
Dystonia 31	Abnormal posturing, Parkinsonism, Difficulty walking	OMIM:619565
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Tremor, Babinski sign, Gait ataxia, Depression, Abnormality of extrapyramidal motor funct...	OMIM:615362
Pemphigus Vulgaris, Familial	Autoimmune antibody positivity, Autoimmunity, Oral mucosal blisters	OMIM:169610
Huntington Disease-Like 1	Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait ataxia, Clumsiness...	ORPHA:157941
Corticobasal Syndrome	Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Tremor, Involuntary movements, Or...	ORPHA:454887
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc...	OMIM:607317
Malignant Hyperthermia, Susceptibility To, 3	Hypertonia, Hyperkalemia, Elevated circulating creatine kinase concentration, Hyperphosphatemia	OMIM:154276
Spinocerebellar Ataxia, X-Linked 5	Ataxia, Action tremor	OMIM:300703
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dystonia	OMIM:605909
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Elbow flexion...	OMIM:619470
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Neuromuscular dysphagia, Depression, Bradykinesia, Falls, Dystonia, Parkinsonis...	ORPHA:240085
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Hyperactivity, Broad-based gait, Resting tremor, Parkinsonism, Anorexia, A...	ORPHA:3077
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate	ORPHA:718
Spinocerebellar Ataxia Type 27	Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Depression, Hand tremor, Gait di...	ORPHA:98764
Neurodegeneration With Brain Iron Accumulation 3	Dystonia, Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoat...	OMIM:606159
Pierre Robin Sequence With Facial And Digital Anomalies	Glossoptosis, Pierre-Robin sequence, Cleft palate	OMIM:311895
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Spastic paraplegia, Limb ...	ORPHA:251282
Deafness, Autosomal Dominant 50	Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari...	OMIM:613074
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Hyperactivity, Tremor, Inability to walk, Rigidity, Dysmetria, Gait ataxia, Gait disturbance	OMIM:618090
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor	OMIM:610297
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,...	ORPHA:423275
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy...	ORPHA:240094
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tandem gait, Myoclonus, O...	OMIM:619028
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote...	ORPHA:320401
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Gait d...	OMIM:300423
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Dystonia, Ataxia, Tremor, Dysmetria, Increased circulating very long-chain...	OMIM:617916
Pseudohypoparathyroidism Type 1C	Calcinosis, Short metacarpal, Short fifth metatarsal, Short metatarsal, Depression, Short 4th met...	ORPHA:79444
Pseudohypoparathyroidism Type 1A	Short metatarsal, Choreoathetosis, Hypocalcemia, Hypocalcemic tetany, Broad distal phalanx of the...	ORPHA:79443
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Pseudohypoparathyroidism Type 1B	Calcinosis, Cortical subperiosteal resorption of humeral metaphyses, Diaphyseal sclerosis, Depres...	ORPHA:94089
Parkinson Disease 19A, Juvenile-Onset	Parkinsonism, Rigidity, Abnormal pyramidal sign, Bradykinesia, Pill-rolling tremor, Shuffling gai...	OMIM:615528
X-Linked Charcot-Marie-Tooth Disease Type 3	Hand muscle weakness, Tremor, Inability to walk, Intrinsic hand muscle atrophy, Hip dysplasia, Di...	ORPHA:101077
Progressive Supranuclear Palsy-Corticobasal Syndrome	Apraxia, Progressive extrapyramidal muscular rigidity, Limb apraxia, Involuntary movements, Tremo...	ORPHA:240103
Malignant Hyperthermia, Susceptibility To, 1	Rigidity, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Atypical Rett Syndrome	Restrictive behavior, Dystonia, Involuntary movements, Tremor, Inability to walk, Tongue thrustin...	ORPHA:3095
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Epilepsy, Progressive Myoclonic, 6	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking...	OMIM:614018
Epilepsy, Progressive Myoclonic 7	Tremor, Ataxia, Myoclonus	OMIM:616187
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Tongue fasciculations, Tongue atrophy	OMIM:613435
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Short palm, Broad-based gait, Ataxia, Tremor, Small hand, Dysmetria, Gait ataxia, Short foot, Dys...	OMIM:610185
Rapp-Hodgkin Syndrome	Conical tooth, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, Sparse hair, Microdontia,...	OMIM:129400
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function...	ORPHA:79262
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Urocanic Aciduria	Broad-based gait, Ataxia, Abnormal circulating histidine concentration, Gait ataxia, Truncal atax...	ORPHA:210128
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns...	OMIM:619405
Stxbp1-Related Encephalopathy	Hyperactivity, Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity	ORPHA:599373
Spinocerebellar Ataxia 18	Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Autosomal Recessive Dopa-Responsive Dystonia	Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk...	ORPHA:101150
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia	OMIM:619651
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Hyperphenylalaninemia, Bh4-Deficient, B	Dystonia, Hyperphenylalaninemia, Tremor, Rigidity, Choreoathetosis, Irritability, Hyperkinetic mo...	OMIM:233910
Vitamin D-Dependent Rickets, Type 3	Bowing of the legs, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Metaphyseal cupping, Genu ...	OMIM:619073
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Short toe, Short metatarsal, Hyperphosphatemia, Short finger, Hypocalcemic teta...	OMIM:103580
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri...	OMIM:607688
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Clumsiness, Irritabili...	ORPHA:66624
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My...	OMIM:612736
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra...	ORPHA:99750
Deafness, Autosomal Dominant 86	Abnormal vestibular function, Sensorineural hearing impairment, Tinnitus	OMIM:620280
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Short metatarsal, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Brachyd...	OMIM:612462
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Parkinsonism-Dystonia 3, Childhood-Onset	Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Depression, Hypertonia, Hype...	OMIM:619738
X-Linked Dystonia-Parkinsonism	Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Torsion dystonia, Hand trem...	ORPHA:53351
Conductive Deafness-Malformed External Ear Syndrome	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme...	ORPHA:3216
Lichtenstein-Knorr Syndrome	Ataxia, Areflexia of upper limbs, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Action...	OMIM:616291
48,Xxyy Syndrome	Broad jaw, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, Carious teeth...	ORPHA:10
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Charcot-Marie-Tooth Disease And Deafness	Thenar muscle atrophy, Tremor, Thenar muscle weakness, Split hand, Hammertoe, Steppage gait, Gait...	OMIM:118300
Hypermanganesemia With Dystonia 2	Generalized dystonia, Dystonia, Parkinsonism, Elevated circulating creatine kinase concentration,...	OMIM:617013
Epilepsy, Familial Adult Myoclonic, 3	Tremor, Myoclonus, Difficulty walking	OMIM:613608
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology	OMIM:611637
Oculodentodigital Dysplasia	Mandibular prognathia, Brittle hair, Micrognathia, Clinodactyly of the 5th finger, Sparse hair, F...	ORPHA:2710
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Sudden cardiac death, Congenital sensorineural hearing impairment, Syncope...	OMIM:220400
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:616208
X-Linked Charcot-Marie-Tooth Disease Type 1	Tremor, Distal upper limb amyotrophy, Ataxia, Gait disturbance	ORPHA:101075
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Elevated circulating phytanic acid concentration, Depression, Hemiparesis, Increa...	OMIM:614307
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
Genetic Recurrent Myoglobinuria	Proximal muscle weakness in upper limbs, Hyperkalemia, Highly elevated creatine kinase, Hyperphos...	ORPHA:99845
Glut1 Deficiency Syndrome 2	Ataxia, Tremor, Choreoathetosis, Irritability, Dystonia, Reduced haptoglobin level	OMIM:612126
Ravine Syndrome	Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem	ORPHA:99852
Spastic Paraparesis And Deafness	Tremor, Spastic paraparesis	OMIM:312910
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Hyperphenylalaninemia, Bh4-Deficient, A	Dystonia, Ataxia, Parkinsonism, Hyperphenylalaninemia, Tremor, Rigidity, Choreoathetosis, Irritab...	OMIM:261640
Filippi Syndrome	Single transverse palmar crease, 2-4 toe syndactyly, Optic atrophy, Hypertrichosis, Cutaneous syn...	OMIM:272440
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Pendred Syndrome	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation	OMIM:274600
Spastic Paraplegia 78, Autosomal Recessive	Resting tremor, Ataxia, Parkinsonism, Aggressive behavior, Babinski sign, Abnormal pyramidal sign...	OMIM:617225
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Depression...	OMIM:616795
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Spinocerebellar Ataxia Type 14	Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus	ORPHA:98763
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Huntington Disease-Like 2	Rigidity, Chorea, Depression, Bradykinesia, Irritability, Dystonia, Action tremor	OMIM:606438
Parkinsonism With Polyneuropathy	Resting tremor, Rigidity, Depression, Bradykinesia, Parkinsonism with favorable response to dopam...	OMIM:619279
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Inability to walk, Spasticity, Opisthotonus, Tip-toe gait, Gait disturbance, A...	ORPHA:216866
Branchiootic Syndrome 1	Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea...	OMIM:602588
Chromosome Xq21 Deletion Syndrome	Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition...	OMIM:303110
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia	OMIM:619553
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Incoordination, Ataxia, Dystonia, Aggressive behavior, Tremor, Paraparesis, Gait ...	OMIM:615157
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis,...	OMIM:617145
Intellectual Developmental Disorder, X-Linked 104	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Spasticity	OMIM:300983
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Abnormal hair quantity, Abnormal eyebrow morphology, Abnormality of nail color, Camptodactyly of ...	ORPHA:3220
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Tremor, Babinski sign, Hammertoe, Steppage gait, Hypertonia, Spasticity	OMIM:609260
X-Linked Spinocerebellar Ataxia Type 3	Sensorineural hearing impairment, Optic atrophy	ORPHA:85297
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Small hand, Short foot, Hyperphosphatemia, Hypocalcemia, Short palm, Hypocalcemic seizures	OMIM:241410
Neuroleptic Malignant Syndrome	Hyponatremia, Extrapyramidal muscular rigidity, Oculogyric crisis, Elevated circulating creatine ...	ORPHA:94093
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus	OMIM:616421
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi...	ORPHA:397946
Orofaciodigital Syndrome Type 2	Micrognathia, Finger clinodactyly, High palate, Short tibia, Finger syndactyly, Broad hallux, Ham...	ORPHA:2751
Autosomal Dominant Hypocalcemia	Writer's cramp, Depression, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Emotional lability, ...	ORPHA:428
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Aggress...	OMIM:612953
Amyotrophic Lateral Sclerosis 23	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis	OMIM:617839
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Restlessness, Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Small hand, ...	OMIM:300055
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Babinski sign, Spastic gait	OMIM:600363
Manganese Poisoning	Dystonia, Postural tremor, Akinesia, Aggressive behavior, Hypersexuality, Depression, Bradykinesi...	ORPHA:306682
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Burning Mouth Syndrome	Abnormality of taste sensation, Parageusia, Abnormal fifth cranial nerve morphology, Abnormality ...	ORPHA:353253
Kufor-Rakeb Syndrome	Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Par...	OMIM:606693
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality	OMIM:617519
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials	OMIM:125250
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Patchy alopecia, Hypodontia, Nail ...	OMIM:226650
Temtamy Preaxial Brachydactyly Syndrome	Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arch...	OMIM:605282
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Abnormal motor neuron morphology	DECIPHER:29
Spinocerebellar Ataxia 23	Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia	OMIM:610245
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti...	OMIM:619725
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Incoordination, Hand muscle weakness, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor,...	OMIM:302800
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, Tremor, Inability to walk, Clumsiness, Eyelid myoclonus, Myoclonus, Difficulty wal...	ORPHA:2590
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Spasticity, Abnormal...	ORPHA:208441
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Spasticity	OMIM:213200
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Elevated circulating creatine kinase concentration, Tremor, Dysphagia, Myoclonus, Tongue fascicul...	OMIM:159950
Hypermanganesemia With Dystonia 1	Dystonia, Hypermanganesemia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordi...	OMIM:613280
X-Linked Intellectual Disability, Hedera Type	Extrapyramidal muscular rigidity, Inability to walk, Unsteady gait, Calcaneovalgus deformity, Slu...	ORPHA:93952
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Acrodysostosis 1 With Or Without Hormone Resistance	Short metacarpal, Brachydactyly, Neonatal epiphyseal stippling, Short metatarsal, Broad palm, Con...	OMIM:101800
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Abnormal vestibular function, Caudate atrophy, Sensorineural...	ORPHA:52368
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology	OMIM:607641
Peroxisome Biogenesis Disorder 8A (Zellweger)	Glossoptosis, Jaundice, Elevated circulating aspartate aminotransferase concentration, Hepatomegaly	OMIM:614876
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga...	OMIM:618049
Aicardi-Goutieres Syndrome 6	Rigidity, Tremor, Irritability, Dystonia, Loss of ambulation	OMIM:615010
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Arachnodactyly, Ataxia, Tremor, Gait ataxia, Hypertonia, Myoclonus, Clinodactyly, Abn...	OMIM:619092
Oculodentodigital Dysplasia	Dry hair, Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Sparse hair...	OMIM:164200
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia, Dysphagia	OMIM:618637
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia	ORPHA:324588
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst...	OMIM:619911
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Limb fasciculation...	ORPHA:90117
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Bowing of the legs, Subperiosteal bone resorption, Delayed epiphyseal ossifica...	OMIM:264700
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Tremor, Talipes cavus equinovarus, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclo...	ORPHA:139485
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Bowing of the legs, Delayed epiphyseal ossification, Enlargement of the wrists...	OMIM:600081
Deafness, Autosomal Dominant 23	Conductive hearing impairment, Sensorineural hearing impairment	OMIM:605192
Spinocerebellar Ataxia With Epilepsy	Tremor, Dysmetria, Gait ataxia, Depression, Progressive cerebellar ataxia, Dysdiadochokinesis, My...	ORPHA:254881
Eem Syndrome	Sparse scalp hair, Absent eyebrow, Finger syndactyly, Abnormal dental morphology, Selective tooth...	ORPHA:1897
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Large hands, Taurodont...	OMIM:157980
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:617836
Usher Syndrome Type 1	Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrophy, Vest...	ORPHA:231169
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hypercalcemia, Hyperphosphatemia, Metacarpal periosteal thickening	OMIM:617994
Gerstmann-Straussler Disease	Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Depression, Bradyk...	OMIM:137440
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Dystonia, Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Paraparesi...	OMIM:607483
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Toe syndactyly, Delayed eruption of primary te...	ORPHA:819
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Spasticity, Abnormal ...	OMIM:618718
X-Linked Charcot-Marie-Tooth Disease Type 4	Tremor, Ataxia, Gait disturbance	ORPHA:101078
Nance-Horan Syndrome	Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incis...	OMIM:302350
Otosclerosis 7	Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a...	OMIM:611572
Infantile Neuronal Ceroid Lipofuscinosis	Dystonia, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordinat...	ORPHA:79263
Neurodegeneration With Brain Iron Accumulation 4	Scapular winging, Generalized dystonia, Ataxia, Parkinsonism, Impulsivity, Elevated circulating c...	OMIM:614298
Rubinstein-Taybi Syndrome 2	Syndactyly, Thick eyebrow, Broad hallux, Highly arched eyebrow, Micrognathia, Carious teeth, Talo...	OMIM:613684
Robin Sequence-Oligodactyly Syndrome	Glossoptosis, Cleft palate, Abnormality of the dentition	ORPHA:3104
Abcd Syndrome	Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari...	OMIM:600501
Epidermolysis Bullosa, Junctional 4, Intermediate	Dental enamel pits, Carious teeth, Scarring alopecia of scalp, Nail dystrophy, Dystrophic fingern...	OMIM:619787
Behr Syndrome	Ataxia, Tremor, Unsteady gait, Babinski sign, Dysmetria, Dysphagia, Gait disturbance, Progressive...	OMIM:210000
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Metaphyseal dysplasia, Persistence of primary t...	OMIM:265900
48,Xxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Coxa valga, ...	ORPHA:96263
Monomelic Amyotrophy	Tremor, Distal upper limb amyotrophy, Abnormality of the upper limb, Fasciculations	ORPHA:65684
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism	OMIM:260540
Saccharopinuria	Tremor, Hypercystinemia, Spastic diplegia, Hyperammonemia, Gait ataxia, Abnormality of circulatin...	ORPHA:3124
Cranioectodermal Dysplasia 4	Thin vermilion border, Cutaneous finger syndactyly, Taurodontia, Broad phalanx of the toes, Broad...	OMIM:614378
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia	OMIM:618587
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Parkinsonism, Chorea, Babinski sign, Gait ataxia, Titubation, Bradykinesia, Gait ...	ORPHA:225147
Hsd10 Disease	Ataxia, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclonus, Dysphagia, Spastic parapa...	ORPHA:391417
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Elevated circulating creatine kinase concentration, Tremor, Shuffling gait, Fascic...	ORPHA:209335
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Congenital sensorineural hearing impairment, Prematu...	OMIM:612347
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic paraparesis	ORPHA:329284
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation, Facial palsy, Furrowed tongue	ORPHA:2743
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Akinesia, Impulsivity, Tremor, Neuromuscular dysphagia, Abnormal py...	ORPHA:240071
Cln5 Disease	Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, Tremor, Inability to...	ORPHA:228360
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Bradykinesia, Blepharospasm, Parkinsonis...	OMIM:606324
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Cardiomyopa...	ORPHA:1215
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors...	OMIM:128100
Usher Syndrome Type 3	Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction	ORPHA:231183
Vitamin D-Dependent Rickets, Type 2A	Bulging epiphyses, Bowing of the legs, Subperiosteal bone resorption, Delayed epiphyseal ossifica...	OMIM:277440
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Ataxia, Tremor, Neuromuscular dysphagia, Slurred speech, Tetraplegia, Clum...	ORPHA:206443
Deafness, Autosomal Dominant 64	Sensorineural hearing impairment, Tinnitus	OMIM:614152
Deafness, Autosomal Dominant 67	Sensorineural hearing impairment, Tinnitus	OMIM:616340
Deafness, Autosomal Dominant 36	Sensorineural hearing impairment, Tinnitus	OMIM:606705
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
Deafness, Autosomal Dominant 43	Sensorineural hearing impairment, Tinnitus	OMIM:608394
Deafness, Autosomal Dominant 33	Sensorineural hearing impairment, Tinnitus	OMIM:614211
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Rigidity, Depression, Bradykinesia, Inappropriate behavior, Disin...	OMIM:168605
49,Xxxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Coxa valga, ...	ORPHA:96264
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast...	ORPHA:363654
Fragile X Tremor/Ataxia Syndrome	Resting tremor, Postural tremor, Parkinsonism, Action tremor, Dysmetria, Gait ataxia, Depression,...	OMIM:300623
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Ataxia	OMIM:278780
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,...	OMIM:606703
Paget Disease Of Bone 5, Juvenile-Onset	Short humerus, Bowing of the long bones, Hydroxyprolinemia, Lateral femoral bowing, Hyperphosphat...	OMIM:239000
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Bowing of the legs, Abnormal circulating calcium concentration, Delayed epiphy...	OMIM:241530
Tooth Agenesis, Selective, 3	Oligodontia of primary teeth, Agenesis of permanent molar, Abnormal hair morphology, Oligodontia,...	OMIM:604625
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Emotional lability, Spasticity	ORPHA:542310
Spinocerebellar Ataxia Type 36	Ataxia, Babinski sign, Limb myoclonus, Dysmetria, Dysphagia, Limb ataxia, Hand tremor, Tongue fas...	ORPHA:276198
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Bowing of the legs, Abnormal circulating calcium concentration, Tra...	OMIM:307800
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Oculogyric crisis, Tremor, Inability to walk, Difficulty walking, Dystonia	ORPHA:330050
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti...	OMIM:608768
Sanjad-Sakati Syndrome	Short foot, Hyperphosphatemia, Small hand, Hypocalcemia	ORPHA:2323
Spinocerebellar Ataxia 50	Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor	OMIM:620158
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Dystonia, Ataxia, Postural tremor, Elevated circulating creatine kinase concentration, Elevated c...	ORPHA:64753
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Ga...	OMIM:615530
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Femoral bowing, Large ...	ORPHA:2563
Cataract-Ataxia-Deafness Syndrome	Tremor, Hypertonia, Ataxia	ORPHA:1368
Spinocerebellar Ataxia, Autosomal Recessive 13	Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki...	OMIM:614831
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Myoclonus	OMIM:615127
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia	OMIM:619274
Facioscapulohumeral Muscular Dystrophy 1	Tongue atrophy, Exudative retinal detachment, Facial palsy, Retinal telangiectasia	OMIM:158900
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Carious teeth, Scarring alopecia of scalp, Motheaten muscle fibers, Palmoplantar hyperkeratosis, ...	OMIM:226670
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Gait ataxia, Choreo...	OMIM:618877
Myasthenic Syndrome, Congenital, 10	Tongue atrophy, Anti-acetylcholine receptor antibody positivity	OMIM:254300
Cerebellofaciodental Syndrome	Single transverse palmar crease, Tapered finger, Sparse eyebrow, Dental malocclusion, Shortening ...	OMIM:616202
Growth Hormone Deficiency, Isolated Partial	Postnatal growth retardation, Short stature	OMIM:615925
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, Ataxia, Gait ataxia	OMIM:617831
Snijders Blok-Campeau Syndrome	Enamel hypoplasia, Taurodontia, High palate, Widely spaced teeth	OMIM:618205
Middle Ear Neuroendocrine Tumor	Abnormality of the tympanic membrane, Facial palsy, Abnormality of the auditory canal, Sensorineu...	ORPHA:100084
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking	ORPHA:477673
Spinocerebellar Ataxia, Autosomal Recessive 21	Tremor, Limb ataxia, Gait ataxia, Talipes equinovarus, Spasticity, Frequent falls	OMIM:616719
Multiple System Atrophy, Cerebellar Type	Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Neurom...	ORPHA:227510
Parkinson Disease, Late-Onset	Resting tremor, Dystonia, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Dysphagia, Sh...	OMIM:168600
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Intellectual Disability, Birk-Barel Type	Tented upper lip vermilion, Foot joint contracture, Spinal muscular atrophy, Highly arched eyebro...	ORPHA:166108
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Obsessive-compulsive ...	ORPHA:36387
Spinocerebellar Ataxia, Autosomal Recessive 31	Dystonia, Ataxia, Tremor, Bruxism, Choreoathetosis, Dysphagia, Clinodactyly of the 5th finger, Se...	OMIM:619422
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Autosomal Dominant Dopa-Responsive Dystonia	Paresis of extensor muscles of the big toe, Torticollis, Ataxia, Parkinsonism, Generalized dyston...	ORPHA:98808
Syngap1-Related Developmental And Epileptic Encephalopathy	Ataxia, Postaxial polydactyly, Abnormal eating behavior, Tremor, Poor coordination, Gait disturba...	ORPHA:544254
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Dystonia, Parkinsonism, Rigidity, Depression, Bradykinesia, Gait disturbance, Shu...	OMIM:168601
Glycosylphosphatidylinositol Biosynthesis Defect 15	Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity	OMIM:617810
Metaphyseal Chondrodysplasia, Jansen Type	Waddling gait, Hip contracture, Bowing of the long bones, Hypercalcemia, Metaphyseal chondrodyspl...	OMIM:156400
Isolated Congenital Hypoglossia/Aglossia	Microglossia, Cleft palate	ORPHA:141152
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105500
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Oculomotor ...	OMIM:208920
Neuroferritinopathy	Resting tremor, Dystonia, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski s...	ORPHA:157846
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Limb joint contracture, Sparse axillary hair, Sp...	ORPHA:251393
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Generalized hypoplasia of dental enamel, Alopecia, Carious teeth, Flexion contracture, Cutaneous ...	OMIM:203550
Trisomy X	Tremor, Depression, Hip dysplasia, Attention deficit hyperactivity disorder, Clinodactyly of the ...	ORPHA:3375
Deafness, Autosomal Recessive 103	Abnormal vestibular function, Sensorineural hearing impairment, Vestibular areflexia	OMIM:616042
Spinocerebellar Ataxia, Autosomal Recessive 7	Ataxia, Postural tremor, Truncal titubation, Unsteady gait, Babinski sign, Dysmetria, Gait ataxia...	OMIM:609270
Deafness, Autosomal Dominant 16	Adult onset sensorineural hearing impairment, Tinnitus	OMIM:603964
Primary Progressive Freezing Gait	Restless legs, Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Shuffling gait, Ga...	ORPHA:75567
Auriculocondylar Syndrome 2A	Dental crowding, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ...	OMIM:614669
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p...	OMIM:601455
Joubert Syndrome 40	Molar tooth sign on MRI, Optic nerve hypoplasia	OMIM:619582
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Tinnitus, Bilateral sensorineural hearing impairment, High-frequency hearing impairment	OMIM:605594
Epilepsy, Familial Adult Myoclonic, 5	Tremor, Myoclonus	OMIM:615400
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Hypopigmentation of hair, Macrodontia, High, narrow palate, Taurodonti...	ORPHA:3214
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic pa...	OMIM:300894
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Pulp calcification, Taurodontia, Enamel hypoplasia	OMIM:211900
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C...	ORPHA:90646
Calciphylaxis	Hyperphosphatemia	ORPHA:280062
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Postnatal growth retardation, Intrauterine growth retardation	OMIM:600546
Hypocalcemic Vitamin D-Resistant Rickets	Genu varum, Genu valgum, Gait disturbance, Hypocalcemia, Abnormal hip bone morphology, Hypophosph...	ORPHA:93160
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Dental malocclusion, Horner syndrome, Short mandibular...	OMIM:141300
Mohr-Tranebjaerg Syndrome	Tremor, Abnormal posturing, Spasticity	OMIM:304700
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Areflexia of upper limbs, Tremor, Intrinsic hand muscle atrophy, Impaired tandem gait, Polyminimy...	OMIM:619574
Catel-Manzke Syndrome	Glossoptosis, Oral synechia, Cleft palate	ORPHA:1388
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Xerostomia, Orofacial cleft, Coarse...	ORPHA:1896
Spinocerebellar Ataxia 29	Broad-based gait, Truncal titubation, Dysmetria, Impaired tandem gait, Gait ataxia, Limb ataxia, ...	OMIM:117360
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Hartnup Disorder	Glossitis	OMIM:234500
Spinocerebellar Ataxia 2	Ataxia, Parkinsonism, Postural tremor, Rigidity, Unsteady gait, Babinski sign, Limb ataxia, Dysme...	OMIM:183090
Progressive Supranuclear Palsy	Dystonia, Impulsivity, Tremor, Rigidity, Unsteady gait, Depression, Bradykinesia, Blepharospasm, ...	ORPHA:683
Adult-Onset Cervical Dystonia, Dyt23 Type	Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Myoclonu...	ORPHA:420492
Hypocalcemic Vitamin D-Dependent Rickets	Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphyseal ossificati...	ORPHA:289157
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence, Prema...	OMIM:192445
X-Linked Charcot-Marie-Tooth Disease Type 5	Tremor, Paraparesis, Ataxia, Gait disturbance	ORPHA:99014
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Single transverse palmar crease, Micrognathia, Sparse eyebrow, Tapered fi...	ORPHA:444072
Inherited Creutzfeldt-Jakob Disease	Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait...	ORPHA:282166
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Thickened cortex of long bones, Abno...	OMIM:127000
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Cystinosis	Abnormal pyramidal sign, Hypokalemia, Gait disturbance, Hypophosphatemia, Polydipsia, Abnormal re...	ORPHA:213
Jalili Syndrome	Abnormality of dental color, Optic atrophy, Abnormal dental enamel morphology, Amelogenesis imper...	ORPHA:1873
Juvenile Primary Lateral Sclerosis	Abnormal upper motor neuron morphology	ORPHA:247604
Multiple System Atrophy, Parkinsonian Type	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:98933
Leukodystrophy, Hypomyelinating, 11	Tremor, Spasticity, Ataxia, Myoclonus	OMIM:616494
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Conjunctival telangiectasia, Optic atrophy, Spinocerebellar atrophy, Cochlear degeneration, Heari...	ORPHA:95433
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Dystonia, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dysphagia, Loss of ambulatio...	OMIM:607694
Cystathioninuria	Tremor, Talipes equinovarus, Cystathioninemia	ORPHA:212
Peroxisome Biogenesis Disorder 5B	Ataxia, Tremor, Unsteady gait, Elevated circulating phytanic acid concentration, Dysmetria, Oculo...	OMIM:614867
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal femur morphology, Abno...	ORPHA:352540
Deafness And Myopia	Sensorineural hearing impairment	OMIM:221200
Pelizaeus-Merzbacher Disease, Classic Form	Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Dystonic gait, Titubation, Athetosis, Abno...	ORPHA:280219
Crisponi/Cold-Induced Sweating Syndrome 1	Short palm, Facial palsy, Micrognathia, Carious teeth, Trismus, Tapered finger, Adducted thumb, E...	OMIM:272430
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Waddling gait, Bowing of the legs, Increased circulating beta-C-terminal telopeptide concentratio...	ORPHA:157215
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Decreased nerve conduction velocity, Arrhythmia, Furrowed tongue	ORPHA:2928
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Single transverse palmar crease, Tremor, Depression, Hip dysplasia, Hyperkinetic movements, Gait ...	ORPHA:457240
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Everted upper lip vermilion, Brittle hair, Absent nipple, Abnormal oral mucosa mo...	OMIM:305100
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
Dystonia 2, Torsion, Autosomal Recessive	Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia	OMIM:224500
Severe Neurodegenerative Syndrome With Lipodystrophy	Hyperactivity, Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal ...	ORPHA:363400
Crigler-Najjar Syndrome Type 1	Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79234
Pelizaeus-Merzbacher Disease	Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Dystonia, Tremor, Inability to wa...	OMIM:312080
Joubert Syndrome 28	Molar tooth sign on MRI, Optic disc pallor, Pigmentary retinopathy	OMIM:617121
4H Leukodystrophy	Dystonia, Ataxia, Tremor, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, Abnormality of ...	ORPHA:289494
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Osteolytic defects of the middle phalanx of the 4th toe, Abnormal...	ORPHA:765
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Impulsivity, Involuntary movements, Tremor, Rigidity, Unstea...	ORPHA:442835
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Tremor, Unsteady gait, Slurred speech, Babinski sign, Clumsiness, Poor fine motor...	ORPHA:137898
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Ataxia, Tapered finger, Tremor, Babinski sign, Dysmetria, Gait ataxia, Steppage gait, Hypertonia,...	OMIM:616505
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal dental morphology, Premature loss of primary teeth, Abnormal hair morphology, ...	ORPHA:248
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Adult-Onset Distal Myopathy Due To Vcp Mutation	Scapular winging, Parkinsonism, Tremor, Intrinsic hand muscle atrophy, Depression, Fasciculations...	ORPHA:329478
Autosomal Recessive Spastic Paraplegia Type 75	Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Abnormal pyramidal sign, Dysmetr...	ORPHA:459056
Schimke Immuno-Osseous Dysplasia	Wide capital femoral epiphyses, Abnormal femoral head morphology, Abnormal primary molar morpholo...	ORPHA:1830
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Leukodystrophy, Hypomyelinating, 6	Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612438
Neuronal Intranuclear Inclusion Disease	Tremor, Rigidity, Ataxia, Gait disturbance	OMIM:603472
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia	OMIM:241520
Waisman Syndrome	Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso...	OMIM:311510
Coenzyme Q10 Deficiency, Primary, 4	Tremor, Ataxia, Abnormal pyramidal sign, Myoclonus	OMIM:612016
Developmental And Epileptic Encephalopathy 42	Tremor, Athetosis, Hypertonia, Ataxia	OMIM:617106
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Hyperactivity, Ataxia, Clonus, Elevated circulating creatine ...	OMIM:615673
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity	ORPHA:1170
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Fasciculations, Elevated circulating creatine kinase concentration, Dysphagia	OMIM:313200
Epilepsy, Progressive Myoclonic, 9	Microglossia	OMIM:616540
Postencephalitic Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Oculogyric crisis, Rigidity, Babinski sign, Abno...	ORPHA:97349
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Cortical thickening of long bone diaphyses, H...	ORPHA:93325
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia	ORPHA:70594
Glutathionuria	Tremor, Dysdiadochokinesis, Action tremor	OMIM:231950
Linear Verrucous Nevus Syndrome	Short metacarpal, Toe syndactyly, Hypophosphatemia	ORPHA:2611
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tremor, Metaphyseal chondrodysplasia, Enlargement of the wrists, Babinski sign, Spastic paraplegi...	ORPHA:83629
Pyruvate Dehydrogenase E1-Alpha Deficiency	Hyperalaninemia, Increased serum pyruvate, Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic...	OMIM:312170
Hypophosphatemic Bone Disease	Hypophosphatemia, Bowing of the legs	OMIM:146350
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ataxia, Tremor, Inability to walk, Hypertonia, Attention deficit hyperactivity disorder	OMIM:619556
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho...	ORPHA:247234
Aceruloplasminemia	Torticollis, Decreased circulating ceruloplasmin concentration, Ataxia, Parkinsonism, Akinesia, I...	ORPHA:48818
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement	Sensorineural hearing impairment, Vestibular areflexia	OMIM:609006
Solar Urticaria	Abnormal lip morphology, Abnormal tongue morphology, Syncope	ORPHA:97230
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Glossoptosis, Cleft palate, Long philtrum	ORPHA:166100
Oculopharyngodistal Myopathy 3	Tremor, Ataxia, Elevated circulating creatine kinase concentration, Dysphagia	OMIM:619473
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Synophrys, Gingival overgrowth, Downturned corners of mouth, ...	OMIM:618729
Meckel Syndrome 13	Molar tooth sign on MRI, Retinopathy	OMIM:617562
Cohen Syndrome	Short metacarpal, Facial hypotonia, Single transverse palmar crease, Micrognathia, Hypoplasia of ...	OMIM:216550
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing...	OMIM:619260
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Bowing of the legs, Delayed epiphyseal ossification, Enlargement of the wrists...	OMIM:300554
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Sparse scalp hair, Brachydactyly, Single transverse palmar crease, Notched primary central inciso...	OMIM:620062
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Skeletal muscle atrophy, Alopecia, Ulnar deviation of the hand, Limb joint contracture, Carious t...	OMIM:612079
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Dystonia, Ataxia, Tremor, Hip dislocation, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdi...	OMIM:614381
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o...	OMIM:602433
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxia,...	ORPHA:101
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Tongue atrophy	ORPHA:496689
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:109120
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hyperactivity, Sandal gap, Aggressive behavior, Tremor, Small hand, Gait ataxia, Short foot, Emot...	OMIM:300354
Intellectual Developmental Disorder, X-Linked 12	Tremor, Depression, Hyperkinetic movements, Gait disturbance, Spasticity, Hip subluxation	OMIM:300957
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Dystonia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic ...	ORPHA:199351
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Agi...	OMIM:618056
Shaheen Syndrome	Carious teeth, Enamel hypoplasia, Palmoplantar hyperkeratosis	OMIM:615328
Exercise-Induced Malignant Hyperthermia	Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypo...	ORPHA:466650
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Patent ductus arteriosus, Pulmonary arterial hypertension, Abnormal posturing, Coarctation of aorta	OMIM:614857
Dyskeratosis Congenita	Abnormal eyebrow morphology, Alopecia, Abnormality of the dentition, Hypoplasia of the maxilla, C...	ORPHA:1775
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:615887
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Abnormal circulating biopterin concentration, Oculogyric crisis, Parkinsonism, Tr...	ORPHA:1578
Spastic Paraplegia 9B, Autosomal Recessive	Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Gait disturbance,...	OMIM:616586
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:616437
Tonne-Kalscheuer Syndrome	Broad-based gait, Aggressive behavior, Tremor, Self-injurious behavior, Dysphagia, Spasticity, Br...	OMIM:300978
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Tapered finger, Thick lower lip vermilion, Broad palm, Genu val...	OMIM:300602
Perry Syndrome	Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Depression	ORPHA:178509
Spinocerebellar Ataxia Type 13	Optic disc pallor, Torticollis, Impaired distal vibration sensation, Optic atrophy, Limb ataxia, ...	ORPHA:98768
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Tremor, Dysmetria, Decerebrate rigidity, Progressive spastic...	ORPHA:845
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Pr...	ORPHA:309246
Septopreoptic Holoprosencephaly	Short attention span, Abnormal midbrain morphology, Hypoplasia of the pons, Perisylvian polymicro...	ORPHA:280195
Whistling Face Syndrome, Recessive Form	Whistling appearance, Narrow mouth, High palate, Long philtrum, Microglossia	OMIM:277720
Parkinson Disease 21	Bradykinesia, Tremor, Rigidity, Parkinsonism	OMIM:616361
Trichorhinophalangeal Syndrome, Type I	Micrognathia, Deep philtrum, Short metatarsal, Cone-shaped epiphyses of the proximal phalanges of...	OMIM:190350
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Achilles tendon contracture, Dental malocclusion, Widely-spaced maxilla...	OMIM:619719
Poirier-Bienvenu Neurodevelopmental Syndrome	Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue	OMIM:618732
Hereditary Late-Onset Parkinson Disease	Resting tremor, Dystonia, Parkinsonism, Impulsivity, Akinesia, Rigidity, Depression, Bradykinesia...	ORPHA:411602
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Persistence of primary teeth, Carious teeth, Mandibular osteomyelitis, Cra...	OMIM:259710
Pendred Syndrome	Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle...	ORPHA:705
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Dehydration, Per...	ORPHA:534
Joubert Syndrome 33	Molar tooth sign on MRI, Cone/cone-rod dystrophy	OMIM:617767
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Short palm, Hypercalcemia, Abnormality of the hand, Aggressive behavior, Unilateral radial aplasi...	ORPHA:476126
Joubert Syndrome 20	Molar tooth sign on MRI, Retinopathy	OMIM:614970
Spontaneous Periodic Hypothermia	Tremor, Ataxia, Gait disturbance	ORPHA:29822
Classic Phenylketonuria	Tremor, Paraplegia, Depression, Self-injurious behavior, Hypertonia, Attention deficit hyperactiv...	ORPHA:79254
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Hypophosphatemia, Genu valgum	OMIM:618913
Subacute Inflammatory Demyelinating Polyneuropathy	Tremor, Choreoathetosis, Steppage gait, Gait disturbance, Limited elbow flexion, Difficulty walki...	ORPHA:206594
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Micrognathia, Synophrys, Palmoplantar hyperkeratosis, Sparse hair, Dystrophic fingernails, Anodon...	ORPHA:3253
Orofaciodigital Syndrome Type 5	Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ...	ORPHA:2919
Hypoglossia With Situs Inversus	Asplenia, High palate, Hypodontia, Polysplenia, Narrow mouth, Microglossia	OMIM:612776
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,...	ORPHA:35689
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology	ORPHA:95434
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Myoclonic-Astatic Epilepsy	Syndactyly, Hyperactivity, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Abnormal emoti...	ORPHA:1942
Young-Onset Parkinson Disease	Restless legs, Impulsivity, Tremor, Rigidity, Depression, Bradykinesia, Agitation, Gait imbalance...	ORPHA:2828
Neurodegeneration With Brain Iron Accumulation 1	Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso...	OMIM:234200
Joubert Syndrome 25	Molar tooth sign on MRI	OMIM:616781
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Abnormal lower motor neuron morphology	OMIM:611067
East Syndrome	Salt craving, Ataxia, Inability to walk, Hypokalemia, Increased circulating renin level, Difficul...	ORPHA:199343
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Tremor, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia, Spasticity	ORPHA:529665
Oculopharyngodistal Myopathy 4	Tremor, Postural tremor, Elevated circulating creatine kinase concentration, Dysphagia	OMIM:619790
Orofaciodigital Syndrome Xv	Lobulated tongue, Midline notch of upper alveolar ridge	OMIM:617127
Mulibrey Nanism	Hepatomegaly, Dental crowding, Congestive heart failure, Dental malocclusion, Pigmentary retinopa...	OMIM:253250
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Ataxia, Severe temper tantrums, Aggressive behavior, Tremor, Spastic tetraplegia, Dysmetria, Athe...	OMIM:617710
Intellectual Developmental Disorder, Autosomal Dominant 21	Single transverse palmar crease, Narrow mouth, Cleft palate, Thin vermilion border, Long eyelashe...	OMIM:615502
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	High, narrow palate, Submucous cleft hard palate, Abnormality of the sense of smell, Glossoptosis...	ORPHA:3201
Cataract-Intellectual Disability-Hypogonadism Syndrome	Furrowed tongue, Everted lower lip vermilion, High palate, Short philtrum, Tooth malposition	ORPHA:1387
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Dental crowding, Sparse eyelashes, Fifth finger distal phalanx clinoda...	OMIM:257850
Combined Oxidative Phosphorylation Deficiency 32	Tremor, Inability to walk, Dysphagia, Choreoathetosis, Dystonia, Spasticity	OMIM:617664
Auriculocondylar Syndrome 1	Dental crowding, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, Anterior open-...	OMIM:602483
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Arachnodactyly, Camptodactyly of finger, Carious teeth, Coarse hair, Joint contract...	ORPHA:1883
Myopathy, Mitochondrial, And Ataxia	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Dysmetria,...	OMIM:617675
Naegeli-Franceschetti-Jadassohn Syndrome	Decreased number of sweat glands, Abnormal dental morphology, Interphalangeal joint contracture o...	ORPHA:69087
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:602099
Plummer-Vinson Syndrome	Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Hypochromic microcytic anemia, Iron defi...	ORPHA:54028
Autosomal Dominant Hypophosphatemic Rickets	Hypophosphatemia, Hypocalcemia, Bowing of the legs	ORPHA:89937
Bor Syndrome	Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th...	ORPHA:107
Branchiootic Syndrome	Facial palsy, Sensorineural hearing impairment, Abnormality of the inner ear, Atresia of the exte...	ORPHA:52429
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Facial palsy, Carious teeth, Absent eyelashes, Preaxial hand polydactyl...	ORPHA:2316
Joubert Syndrome 18	Occipital encephalocele, Lobulated tongue, Intrahepatic biliary atresia, Cleft palate	OMIM:614815
Joubert Syndrome 16	Molar tooth sign on MRI, Retinal dystrophy	OMIM:614465
Unilateral Polymicrogyria	Epistaxis, Involuntary movements, Pulmonary arteriovenous malformation, Spastic tetraplegia, Hemi...	ORPHA:268943
Jalili Syndrome	Carious teeth, Optic disc pallor, Yellow-brown discoloration of the teeth, Enamel agenesis	OMIM:217080
Opsismodysplasia	Short metacarpal, Rhizomelia, Squared iliac bones, Hypoplastic pubic bone, Flat acetabular roof, ...	OMIM:258480
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Bradykinesia, Resting tremor, Rigidity, Parkinsonism	OMIM:614251
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tremor, Lethargy, Agitation	ORPHA:276608
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia	OMIM:618060
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Hypophosphatemia	OMIM:193100
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Fibrous Dysplasia Of Bone	Abnormal morphology of the radius, Bowing of the long bones, Antalgic gait, Abnormal pelvis bone ...	ORPHA:249
Dent Disease 2	Elevated circulating creatine kinase concentration, Hypophosphatemia	OMIM:300555
Joubert Syndrome 15	Molar tooth sign on MRI, Retinopathy, Retinal dystrophy	OMIM:614464
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia, Agitation	ORPHA:340
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Downturned corners of mouth, Lobulated tongue, Thin upper lip vermilion, Short philtrum	OMIM:613443
Developmental And Speech Delay Due To Sox5 Deficiency	Exaggerated median tongue furrow, Dental crowding, Optic atrophy, Narrow palate, Mitral regurgita...	ORPHA:313892
Dent Disease 1	Bulging epiphyses, Bowing of the legs, Delayed epiphyseal ossification, Enlargement of the wrists...	OMIM:300009
Congenital Arthrogryposis With Anterior Horn Cell Disease	Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology	OMIM:611890
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Tongue atrophy	OMIM:616155
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Hepatomegaly, Abnormal EKG, Protruding tongue, Hydrocephalus, Optic atro...	ORPHA:93400
Melkersson-Rosenthal Syndrome	Facial palsy, Cheilitis, Furrowed tongue, Macroglossia, Abnormal autonomic nervous system physiology	ORPHA:2483
Cronkhite-Canada Syndrome	Intestinal polyposis, Hepatomegaly, Malabsorption, Splenomegaly, Hypogeusia, Furrowed tongue, Ham...	ORPHA:2930
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Dystonia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprot...	OMIM:606002
Pontocerebellar Hypoplasia, Type 1B	Tongue atrophy, Retinal dystrophy, Tongue fasciculations	OMIM:614678
Lipoid Proteinosis	Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala...	ORPHA:530
Epilepsy, Familial Adult Myoclonic, 2	Tremor, Ataxia, Blepharospasm, Myoclonus	OMIM:607876
Citrullinemia Type Ii	Restlessness, Hyperactivity, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyper...	ORPHA:247585
X-Linked Intellectual Disability, Cabezas Type	Hyperactivity, Broad-based gait, Toe syndactyly, Sandal gap, Camptodactyly of finger, Aggressive ...	ORPHA:85293
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenomegal...	ORPHA:100026
Atkin-Flaitz Syndrome	Thick vermilion border, Everted lower lip vermilion, Maxillary lateral incisor microdontia, Abnor...	ORPHA:1193
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Inap...	ORPHA:98794
Cherubism	Jaw swelling, Optic neuropathy, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Ol...	OMIM:118400
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Alopecia, Carious teeth, Yellow nails, Conical incisor, Nail dystrophy, Enamel hypoplasia, Sparse...	OMIM:614564
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Glossoptosis, Pierre-Robin sequence, Cleft palate	OMIM:620269
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Lymphedema, Periorbital edema, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Short p...	OMIM:235510
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma of tongue, Optic dis...	OMIM:174300
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Thin upper lip vermilion, Pierre-Robin sequence, Glossoptosis, High palate, Open mouth	OMIM:613604
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Ataxia, Tremor, Irritability, Decreased serum zinc, Emotional lability, Lethargy	OMIM:201100
Chronic Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529808
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Microdontia, Agenesis of molar, Supernumerary tooth, Diastema	OMIM:619718
Acute Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529799
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Hypophosphatemia, Polydipsia, Metaphyseal irregularity	OMIM:239200
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Restlessness, Abnormal fear-induced behavior, Abnormal circulating porphyrin concen...	ORPHA:100924
Usher Syndrome, Type Ig	Abnormal vestibular function, Sensorineural hearing impairment	OMIM:606943
Auriculocondylar Syndrome 3	Glossoptosis, Bifid uvula	OMIM:615706
Combined Oxidative Phosphorylation Deficiency 55	Single transverse palmar crease, Elevated circulating creatine kinase concentration, Hypophosphat...	OMIM:619743
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen	ORPHA:94059
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Decreased nerve conduction velocity, Glossoptosis, Cleft palate	OMIM:618356
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spasticity	OMIM:616840
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cho...	OMIM:617988
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Autoimmunity, Malabsorption, Thrombocytopenia, Hepatitis, ...	ORPHA:47
Orofaciodigital Syndrome Xix	Toe syndactyly, Broad hallux, Cleft soft palate, Accessory oral frenulum, Type A brachydactyly, C...	OMIM:620107
Deafness-Craniofacial Syndrome	Short lingual frenulum, Abnormality of the dentition, Short philtrum, Bifid tongue, Abnormal pala...	ORPHA:3241
Spastic Paralysis, Infantile-Onset Ascending	Abnormal lower motor neuron morphology	OMIM:607225
Icf Syndrome	Communicating hydrocephalus, Abnormality of neutrophils, Malabsorption, Protruding tongue, Macrog...	ORPHA:2268
Migraine, Familial Hemiplegic, 2	Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia	OMIM:602481
Pallister-Hall-Like Syndrome	Occipital encephalocele, Median cleft lip, Hydrocephalus, Cleft palate, Microglossia	OMIM:241800
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ...	OMIM:115250
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor	ORPHA:66633
Joubert Syndrome 6	Hypoplasia of the brainstem, Chorioretinal coloboma, Molar tooth sign on MRI, Elongated superior ...	OMIM:610688
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Angular cheilitis, Megaloblastic a...	ORPHA:35858
Auriculocondylar Syndrome	Dental crowding, Hamartoma of tongue, Narrow mouth, Microglossia, Dental malocclusion, Cleft pala...	ORPHA:137888
Amish Nemaline Myopathy	Tremor, Hip contracture, Shoulder flexion contracture	ORPHA:98902
Marbach-Schaaf Neurodevelopmental Syndrome	Speech apraxia, Torticollis, Hemidystonia, Tapered finger, Aggressive behavior, Tremor, Attention...	OMIM:619680
Hypomandibular Faciocranial Dysostosis	Pursed lips, Optic disc coloboma, Aglossia	OMIM:241310
Sandifer Syndrome	Hematemesis, Abnormal posturing, Torticollis	ORPHA:71272
Refractory Celiac Disease	Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology	OMIM:606353
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Waddling gait, Speech apraxia, Dystonia, Ataxia, Elevated circulating creatine kinase concentrati...	OMIM:615356
Odontomicronychial Dysplasia	Short nail, Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, Prematu...	ORPHA:1811
Supranuclear Palsy, Progressive, 1	Limb dystonia, Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykin...	OMIM:601104
Adult-Onset Autosomal Dominant Leukodystrophy	Ataxia, Clonus, Upper limb postural tremor, Action tremor, Tremor, Head titubation, Babinski sign...	ORPHA:99027
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop...	OMIM:607060
Carey-Fineman-Ziter Syndrome	Aplasia/Hypoplasia of the tongue, Facial palsy, Pierre-Robin sequence, Cleft palate, Glossoptosis...	ORPHA:1358
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Psoriasis 14, Pustular	Neutrophilia, Cholangitis, Leukocytosis, Furrowed tongue, Geographic tongue	OMIM:614204
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Optic atrophy	OMIM:616881
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
X-Linked Hypophosphatemia	Shortening of the talar neck, Bowing of the long bones, Bowing of the legs, Sacroiliac joint syno...	ORPHA:89936
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Dystonia, Abnormal blood inorganic cation concentration, Rigidity, Bradykinesia, Poor fine motor ...	ORPHA:309854
Seckel Syndrome 2	Microdontia, Microglossia, Heart murmur	OMIM:606744
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Narrow mouth, Microglossia, Holoprosencephaly, Abnormal cranial nerve morphology	ORPHA:990
Trisomy 8Q	Myelomeningocele, Non-midline cleft lip, Cleft palate, Orofacial cleft, Abnormal oral frenulum mo...	ORPHA:1752
Agnathia-Otocephaly Complex	Aglossia, Cleft palate, Holoprosencephaly, Narrow mouth, Microglossia	OMIM:202650
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Portal hypertension, Short-segment ag...	OMIM:609136
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, Glossitis, Thrombocytopenia	ORPHA:90045
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con...	OMIM:606895
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Protruding tongue, Hydrocephalus, Alveolar ridge overgrowth, Cleft palate, Thin vermilion border,...	OMIM:612938
Developmental And Epileptic Encephalopathy 4	Choreoathetosis, Spastic paraplegia, Tremor, Spastic tetraplegia	OMIM:612164
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105550
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Diffuse cerebral atrophy, Vestibular areflexia	ORPHA:3240
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Conical primary inci...	OMIM:602400
Congenital Disorder Of Glycosylation, Type Ij	Single transverse palmar crease, Aggressive behavior, Tremor, Hypertonia, Clinodactyly of the 5th...	OMIM:608093
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypophosphatemia, Hypermagnesemia, Hypercalcemia, Depression	OMIM:600740
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Lowry-Maclean Syndrome	Single transverse palmar crease, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of t...	ORPHA:2409
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Optic atrophy	OMIM:609541
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Hypoalbuminemia, Myoclonus, Dysphagia...	OMIM:254900
Orofaciodigital Syndrome Iii	Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula	OMIM:258850
Orofaciodigital Syndrome Iv	Hamartoma of tongue, Accessory oral frenulum, Cleft palate, Lobulated tongue, High palate, Tongue...	OMIM:258860
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Paralysis, Tremor, Hyperkalemia, Tetraplegia, R...	ORPHA:79102
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduct...	ORPHA:206436
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,...	ORPHA:101085
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Glossoptosis, Congenital hepatic fibrosis, Meningocele, Chorioretinal coloboma	ORPHA:2031
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic disc pallor, Exaggerated startle response, Optic atrophy	ORPHA:320406
Congenital Bile Acid Synthesis Defect Type 4	Tremor, Ataxia, Elevated circulating creatine kinase concentration, Depression	ORPHA:79095
Joubert Syndrome 17	Molar tooth sign on MRI, Abnormal retinal morphology	OMIM:614615
Orofaciodigital Syndrome I	Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Pancreatic cysts, Myelomen...	OMIM:311200
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Down Syndrome	Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower lip vermilion...	ORPHA:870
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Cleft palate, Glossoptosis, Everted lower lip...	OMIM:616367
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Dysmetria	OMIM:615578
Acquired Hypertrichosis Lanuginosa	Macroglossia, Glossitis	ORPHA:2221
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Pycnodysostosis	Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Microgna...	OMIM:265800
Mohr Syndrome	Median cleft lip, Accessory oral frenulum, Hydrocephalus, Cleft palate, Tongue nodules, Lobulated...	OMIM:252100
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Hypokalemia, Periodic paralysis	OMIM:613239
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Protruding tongue, Splenomegaly, Optic atrophy, Gingival overgrowth, Sea-blue histi...	OMIM:230600
Arthrogryposis, Distal, Type 2A	Cerebellar atrophy, Abnormal auditory evoked potentials, Hearing impairment	OMIM:193700
Camurati-Engelmann Disease	Mandibular prognathia, Skeletal muscle atrophy, Carious teeth, Cranial nerve compression, Diaphys...	OMIM:131300
Coenzyme Q10 Deficiency, Primary, 1	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Dysphagia, Loss of...	OMIM:607426
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Abnormal long bone mor...	ORPHA:411634
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Hyperalaninemia, Increased serum pyruvate, Dystonia, Ataxia, Hyperglutamatemia,...	ORPHA:3008
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Tremor, Ataxia, Hyperbilirubinemia	ORPHA:713
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Protruding tongue, Congestive heart failure, Mitral regu...	ORPHA:324410
Tetanus	Elevated circulating creatine kinase concentration, Tremor, Rigidity, Opisthotonus, Hypertonia, D...	ORPHA:3299
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Hand muscle weakness, Areflexia of upper limbs, Inabilit...	ORPHA:99956
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia	OMIM:134600
Juvenile Sialidosis Type 2	Hepatomegaly, Protruding tongue, Optic atrophy, Gingival overgrowth, Hepatosplenomegaly, Cherry r...	ORPHA:93399
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Clinodactyly of the 5th finger, Small proximal tibial epiph...	OMIM:154780
Amyotrophic Lateral Sclerosis 27, Juvenile	Tongue atrophy, Tongue fasciculations	OMIM:620285
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Macrodontia, Aplasia/Hypoplasia of ...	ORPHA:193
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Restlessness, Torticollis, Ataxia, Tremor, Rigidity, Irritability, Tetraparesis	OMIM:617186
9q subtelomeric deletion syndrome	Protruding tongue	DECIPHER:52
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border, Exaggerat...	OMIM:620114
Wolfram Syndrome 1	Tremor, Ataxia, Limited mobility of proximal interphalangeal joint, Dysphagia	OMIM:222300
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Thin upper lip vermilion, Exaggerated startle response, Tented upper lip vermilion, Facial hypoto...	ORPHA:438216
Metachromatic Leukodystrophy	Incoordination, Ataxia, Tremor, Tip-toe gait, Gait disturbance, Decerebrate rigidity, Progressive...	ORPHA:512
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology	ORPHA:275872
O'Sullivan-Mcleod Syndrome	Tremor, Fasciculations, Intrinsic hand muscle atrophy, Hand muscle weakness	ORPHA:99965
Hyperlysinemia	Hyperactivity, Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Tremor, Spastic di...	ORPHA:2203
Hereditary Mucoepithelial Dysplasia	Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue	ORPHA:1839
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormal lip morphology, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue	ORPHA:2759
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Proximal muscle weakness in upper limbs, Flexion contracture of finger, Hand muscle weakness, Tre...	ORPHA:466768
Odontoonychodermal Dysplasia	Sparse scalp hair, Dry hair, Short nail, Sparse eyebrow, Abnormality of primary teeth, Agenesis o...	OMIM:257980
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing enteropathy, Glo...	OMIM:175500
Orofaciodigital Syndrome Type 3	Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Lobulated tongue, Cherry ...	ORPHA:2752
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:613954
Hereditary Fructose Intolerance	Lethargy, Hypermagnesemia, Hyperuricemia, Hypophosphatemia	ORPHA:469
Fanconi-Bickel Syndrome	Bowing of the long bones, Hypertriglyceridemia, Hypophosphatemia	ORPHA:2088
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Tremor, Vocal cord paralysis, Mildly elevated creatine kinase, Dysphagia	ORPHA:397744
Raine Syndrome	Bowing of the long bones, Micromelia, Hypophosphatemia, Neonatal death, Long hallux, Brachydactyly	OMIM:259775
Alternating Hemiplegia Of Childhood	Dystonia, Ataxia, Anorexia, Aggressive behavior, Oral-pharyngeal dysphagia, Impulsivity, Tremor, ...	ORPHA:2131
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Abnormal medulla oblongata morphology, Abnormal m...	ORPHA:206448
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity	OMIM:618527
Glutaryl-Coa Dehydrogenase Deficiency	Limb dystonia, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Athetosis, Dy...	ORPHA:25
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Ataxia, Tremor, Central Y-shaped metacarpal, Preaxial polydact...	ORPHA:2754
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Absent eyelashes, Short thumb, Partial duplication of thumb phalanx, Xerostomia, W...	OMIM:620193
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, Abnormal motor neuron morphology	ORPHA:52430
Joubert Syndrome	Ataxia, Tremor, Hand polydactyly, Gait disturbance, Foot polydactyly, Oculomotor apraxia	ORPHA:475
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Smooth philtrum, Macular coloboma, Megaloblastic anemia, Pulmonary embolism, Thrombocytopenia, Hy...	ORPHA:79282
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thin upper lip vermilion, Hepatomegaly, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Tra...	OMIM:277380
Methylmalonic Acidemia With Homocystinuria Type Cblf	Megaloblastic anemia, Intraventricular hemorrhage, Cleft palate, Reduced number of intrahepatic b...	ORPHA:79284
Tarp Syndrome	Optic atrophy, Subdural hemorrhage, Cleft palate, Tongue nodules, Glossoptosis, High palate, Hepa...	OMIM:311900
Gabriele-De Vries Syndrome	Waddling gait, Hallux valgus, Dystonia, Sandal gap, Tremor, Long fingers, Tip-toe gait, Finger jo...	OMIM:617557
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Hypoglossia-Hypodactyly Syndrome	Jejunal atresia, Aplasia/Hypoplasia of the tongue, Cleft palate, High palate, Hypodontia, Narrow ...	ORPHA:989
Faciocardiomelic Dysplasia, Lethal	Microglossia, Narrow mouth	OMIM:227270
Hypomandibular Faciocranial Dysostosis	Aplasia/Hypoplasia of the tongue, Optic disc coloboma, Cleft palate, Narrow mouth, Bifid uvula	ORPHA:1790
Arthrogryposis, Distal, Type 5D	Tongue atrophy, Cleft palate, Furrowed tongue, Narrow mouth, Open mouth	OMIM:615065
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro...	OMIM:606070
Boucher-Neuhauser Syndrome	Abnormal upper motor neuron morphology	OMIM:215470
Fanconi-Bickel Syndrome	Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent...	OMIM:227810
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Neurogenic bladder, Elevated circulating aspartate aminotransferase concentration, ...	OMIM:608779
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Malabsorption, Protruding tongue, Macroglossia, T lymphocytopenia, Reduced natural killer cell count	OMIM:242860
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Optic atrophy, Hypertension, Macrotia, Abnormality of periph...	ORPHA:90321
Joubert Syndrome 8	Molar tooth sign on MRI, Optic disc pallor, Pigmentary retinopathy	OMIM:612291
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Too...	OMIM:150400
Niemann-Pick Disease Type C	Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Low frustration tolerance, Comp...	ORPHA:646
Autosomal Recessive Malignant Osteopetrosis	Bowing of the long bones, Tremor, Abnormal epiphysis morphology, Hypocalcemia, Hypophosphatemia, ...	ORPHA:667
Holzgreve Syndrome	Abnormal mesentery morphology, Bifid tongue, Aplasia/Hypoplasia of the tongue, Cleft palate	ORPHA:2167
Developmental And Epileptic Encephalopathy 80	Optic disc pallor, Tented upper lip vermilion, Protruding tongue, Wide mouth, High palate, Long p...	OMIM:618580
Congenital Disorder Of Glycosylation, Type Iig	Thin upper lip vermilion, Thrombocytopenia, Pierre-Robin sequence, Giant platelets, Cleft palate,...	OMIM:611209
Xq21 Microdeletion Syndrome	Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro...	ORPHA:1435
9Q21.13 Microdeletion Syndrome	Downturned corners of mouth, Abnormal tongue morphology	ORPHA:531151
Joubert Syndrome 1	Optic disc pallor, Retinal dystrophy, Protruding tongue, Optic disc coloboma, Occipital myelomeni...	OMIM:213300
Tetraamelia Syndrome 2	Glossoptosis, Ankyloglossia, Bilateral cleft lip, Cleft palate	OMIM:618021
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet...	OMIM:608643
Giant Cell Arteritis	Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Optic atrophy, Cerebral ischemia, Arrh...	ORPHA:397
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, High palate, Thick v...	OMIM:618106
Gracile Bone Dysplasia	Asplenia, Hydrocephalus, Ankyloglossia, Hypoplastic spleen	OMIM:602361
Autosomal Dominant Spastic Paraplegia Type 9A	Tremor, Babinski sign, Abnormal pyramidal sign, Spastic dysarthria, Lower limb hypertonia, Falls,...	ORPHA:447753
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Abnormal hair quantity, Abnormal oral mucosa morphology, Micromelia, A...	ORPHA:289
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Exaggerated startle response, Elevated circulating creatine kinase concentrat...	OMIM:253800
Fanconi Renotubular Syndrome 2	Hypophosphatemia	OMIM:613388
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Bifid tongue, Intestinal malrotation, Bilateral cleft lip and palate	ORPHA:2001
Marshall-Smith Syndrome	Open mouth, Optic atrophy, Gingival overgrowth, Protruding tongue	ORPHA:561
Serotonin Syndrome	Restlessness, Clonus, Tremor, Rigidity, Irritability, Hypertonia, Agitation, Myoclonus	ORPHA:43116
Tay-Sachs Disease	Cherry red spot of the macula, Exaggerated startle response	OMIM:272800
Lethal Faciocardiomelic Dysplasia	Microglossia, Narrow mouth	ORPHA:1972
Autosomal Dominant Progressive External Ophthalmoplegia	Resting tremor, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Rigidity, Gai...	ORPHA:254892
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Brown-Vialetto-Van Laere Syndrome 1	Tongue atrophy, Facial palsy, Tongue fasciculations, Cranial nerve motor loss	OMIM:211530
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Hypophosphatemia	OMIM:616026
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Cleft palate, Furrowed tongue, High palate, Short philtrum, Everted l...	OMIM:616449
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Carious teeth, Glossoptosis	ORPHA:93346
Ramos-Arroyo Syndrome	Aganglionic megacolon, Carious teeth, Absent retinal pigment epithelium, Chorioretinal atrophy, X...	ORPHA:1051
Moebius Syndrome	Aplasia/Hypoplasia of the tongue, Facial palsy, Cleft palate, Abnormality of the sense of smell, ...	ORPHA:570
Agel Amyloidosis	Tongue atrophy, Facial palsy, Xerostomia, Cardiomyopathy, Abnormal spleen morphology, Arrhythmia,...	ORPHA:85448
Bazex-Dupre-Christol Syndrome	Furrowed tongue	OMIM:301845
Polyglucosan Body Neuropathy, Adult Form	Abnormal upper motor neuron morphology	OMIM:263570
Lelis Syndrome	Carious teeth, Hypodontia, Furrowed tongue	ORPHA:140936
Pelvis-Shoulder Dysplasia	Spina bifida, Hydrocephalus, Cleft palate, Retinal coloboma, Thick anterior alveolar ridges, Hydr...	ORPHA:2839
Cystinosis, Nephropathic	Hyponatremia, Oral-pharyngeal dysphagia, Hypomagnesemia, Metaphyseal widening, Reduced blood urea...	OMIM:219800
Otospondylomegaepiphyseal Dysplasia	Retinal detachment, Cleft palate, Glossoptosis, Degenerative vitreoretinopathy, Bifid uvula	ORPHA:1427
Tyrosinemia Type 2	Tremor, Palmoplantar keratoderma, Ataxia	ORPHA:28378
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Glossoptosis, Cleft palate	ORPHA:440354
Spinocerebellar Ataxia 36	Tongue atrophy, Tongue fasciculations	OMIM:614153
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors	OMIM:610706
Cowden Syndrome 5	Colonic diverticula, Angioid streaks of the fundus, Furrowed tongue, Hamartomatous polyposis, Hig...	OMIM:615108
Mercury Poisoning	Tremor, Hypokalemia, Anorexia, Dystonia	ORPHA:330021
Mucoepithelial Dysplasia, Hereditary	Eosinophilia, Erythematous oral mucosa, Furrowed tongue, Melena, Corneal neovascularization	OMIM:158310
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons	OMIM:253310
Autosomal Recessive Hypophosphatemic Rickets	Renal hypophosphatemia, Abnormal sacroiliac joint morphology, Enlargement of the wrists, Coxa var...	ORPHA:289176
Alexander Disease	Ataxia, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, Depression, Self-injurious ...	ORPHA:58
Distal Limb Deficiencies-Micrognathia Syndrome	Cleft palate, High palate, Narrow mouth, Microdontia, Microglossia	ORPHA:1307
Generalized Pustular Psoriasis	Elevated hepatic transaminase, Congestive heart failure, Leukocytosis, Cheilitis, Lymphopenia, Ge...	ORPHA:247353
Meckel Syndrome	Encephalocele, Accessory spleen, Abnormal chorioretinal morphology, Aplasia/Hypoplasia of the ton...	ORPHA:564
Hartnup Disease	Glossitis, Gingivitis, Malabsorption	ORPHA:2116
Cleidocranial Dysplasia	Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Open ...	ORPHA:1452
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormal upper motor neuron morphology	OMIM:221770
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Renal hypophosphatemia, Elevated circulating creatine kina...	ORPHA:1652
Myopathy, Myofibrillar, 7	Tongue atrophy, Facial palsy	OMIM:617114
Mogs-Cdg	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy	ORPHA:79330
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia	OMIM:146500
Mandibuloacral Dysplasia	High palate, Abnormal tongue morphology, Dental crowding, Hypoplasia of teeth	ORPHA:2457
Ataxia-Telangiectasia	Ataxia, Elevated circulating alpha-fetoprotein concentration, Tremor, Inability to walk, Slurred ...	OMIM:208900
Infantile Nephropathic Cystinosis	Polydipsia, Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia	ORPHA:411629
Cowden Syndrome 6	Colonic diverticula, Angioid streaks of the fundus, Furrowed tongue, Hamartomatous polyposis, Hig...	OMIM:615109
Orofaciodigital Syndrome Type 1	Elevated hepatic transaminase, Median cleft lip, Abnormal dental enamel morphology, Accessory ora...	ORPHA:2750
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Bowing of the long bones, Ataxia, Metaphyseal sclerosis, Tremor, Abnormal pyramidal sign, Genu va...	OMIM:612199
Trisomy 10P	Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm...	ORPHA:171929
Pitt-Hopkins-Like Syndrome 2	Wide mouth, Pulmonic stenosis, Protruding tongue	OMIM:614325
Hypoglossia-Hypodactylia	Microglossia, Aglossia, Narrow mouth	OMIM:103300
Pearson Syndrome	Ataxia, Dysphagia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Hyperalaninemia	ORPHA:699
Cowden Syndrome 1	Colonic diverticula, Angioid streaks of the fundus, Furrowed tongue, Hamartomatous polyposis, Hig...	OMIM:158350
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Thin upper lip vermilion, Diastema, Furrowed tongue, High palate, Cholelithiasis, Smooth philtrum	OMIM:300534
Orofaciodigital Syndrome Vi	Accessory oral frenulum, Cleft upper lip, Hamartoma of tongue, Cleft palate, Incomplete cleft of ...	OMIM:277170
Combined Oxidative Phosphorylation Deficiency 15	Incoordination, Ataxia, Single transverse palmar crease, Tremor, Unsteady gait, Small hand, Abnor...	OMIM:614947
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Wide mouth, Widely spaced teeth, Protruding tongue	ORPHA:98795
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Frontorhiny	Encephalocele, Cleft palate, Basal encephalocele, Cranium bifidum occultum, Bifid tongue	ORPHA:391474
Sandhoff Disease, Infantile Form	Cherry red spot of the macula, Exaggerated startle response	ORPHA:309155
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Conical incisor, Aplasia of the eccrine sweat glands, Lymphedema	OMIM:300291
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Dec...	ORPHA:909
Developmental And Epileptic Encephalopathy 31B	Optic atrophy, Gingival overgrowth, Protruding tongue	OMIM:620352
Cockayne Syndrome A	Cerebellar atrophy, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased ner...	OMIM:216400
Short-Rib Thoracic Dysplasia 12	Natal tooth, Hepatomegaly, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Splenom...	OMIM:269860
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Spasticity, Hypertonia, Rigidity	OMIM:176500
Carey-Fineman-Ziter Syndrome 1	Facial palsy, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Pulmonary arterial ...	OMIM:254940
Acrodermatitis Enteropathica	Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis	ORPHA:37
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Scapular winging, Micrognathia, Abnormality of hair texture, Synophrys, Dental malocclusion, Hypo...	ORPHA:73223
Cockayne Syndrome B	Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci...	OMIM:133540
Congenital Disorder Of Glycosylation, Type Iia	Macrodontia, Protruding tongue, Diastema, Gingival overgrowth, Wide mouth, Thin vermilion border,...	OMIM:212066
Vici Syndrome	Cardiomyopathy, Abnormal posturing, Dilated cardiomyopathy, Congestive heart failure	OMIM:242840
Rubinstein-Taybi Syndrome 1	Dental crowding, Single transverse palmar crease, Polyhydramnios, Micrognathia, Hypoplasia of the...	OMIM:180849
Treacher-Collins Syndrome	Encephalocele, Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Op...	ORPHA:861
Mccune-Albright Syndrome	Abnormal femur morphology, Hypophosphatemia	ORPHA:562
Charcot-Marie-Tooth Disease Type 4C	Decreased motor nerve conduction velocity, Tongue atrophy, Optic atrophy, Abnormal optic nerve mo...	ORPHA:99949
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Natal tooth, Hamartoma of tongue, Cleft lip, Cleft palate, Incomplete cleft of the...	OMIM:616300
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence...	ORPHA:364577
Kleefstra Syndrome 1	Natal tooth, Protruding tongue, Persistence of primary teeth, Macroglossia, Everted lower lip ver...	OMIM:610253
Japanese Encephalitis	Decreased motor nerve conduction velocity, Abnormal substantia nigra morphology, Facial palsy, Ab...	ORPHA:79139
Acro-Renal-Mandibular Syndrome	Aplasia/Hypoplasia of the tongue, Tracheoesophageal fistula, Orofacial cleft, Abnormality of the ...	ORPHA:958
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Tremor, Babinski sign, 2-3 toe syndactyly, Irritability, Hypertonia, Spa...	OMIM:616539
Early Infantile Epileptic Encephalopathy	Hyperactivity, Dystonia, Tremor, Choreoathetosis, Self-injurious behavior, Myoclonus, Broad finge...	ORPHA:1934
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Robinow Syndrome, Autosomal Dominant 3	Tricuspid regurgitation, Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, Agene...	OMIM:616894
Angelman Syndrome Due To A Point Mutation	Wide mouth, Widely spaced teeth, Protruding tongue	ORPHA:411511
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Cleft palate, Furrowed tongue, Downturned corners of mouth, Macroglossia, Oligodontia, High palat...	ORPHA:453499
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, High, narrow palate, Cleft palate, Furrowed ...	ORPHA:464738
Cerebrocostomandibular Syndrome	Spina bifida, Myelomeningocele, Meningocele, Cleft palate, Glossoptosis, Hydranencephaly, Short h...	ORPHA:1393
Otopalatodigital Syndrome Type 2	Encephalocele, Myelomeningocele, Hydrocephalus, Pierre-Robin sequence, Cleft palate, Glossoptosis...	ORPHA:90652
Doors Syndrome	Short lingual frenulum, Polyhydramnios, Low anterior hairline, Abnormal finger morphology, Downtu...	ORPHA:79500
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Enamel hypoplasia, Ankylog...	OMIM:618874
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Wide mouth, Gingival overgrowth, Protruding tongue	OMIM:618797
Angelman Syndrome	Wide mouth, Macroglossia, Widely spaced teeth, Protruding tongue	OMIM:105830
Rabson-Mendenhall Syndrome	Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrowed tongue, Macroglossia...	ORPHA:769
Amyotrophic Lateral Sclerosis 2, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro...	OMIM:205100
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Ankyloglossia	OMIM:619352
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic regurgitation, Protruding tongue, Downturned corners of mouth, Macroglossia, Everted lower...	ORPHA:96147
Hereditary Acrokeratotic Poikiloderma	Telangiectasia of the skin, Premature loss of primary teeth, Abnormality of the dentition, Open b...	ORPHA:2907
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Optic nerve hypoplasia, Exaggera...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Optic nerve hypoplasia, Exaggera...	ORPHA:352665
Tarp Syndrome	Extramedullary hematopoiesis, Pierre-Robin sequence, Optic atrophy, Alveolar ridge overgrowth, Cl...	ORPHA:2886
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of the dentition, Open bite, Sup...	ORPHA:1507
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Natal tooth, Retinitis, Hamartoma of tongue, Cleft lip, Supernumerary to...	OMIM:615948
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Glossoptosis, Cleft palate	ORPHA:436003
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology	ORPHA:93941
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Optic disc pallor, Hepatomegaly, Protruding tongue, High, narrow...	OMIM:214100
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia, Lethargy	OMIM:229600
Kawasaki Disease	Pericarditis, Congestive heart failure, Leukocytosis, Jaundice, Vasculitis, Hepatitis, Cheilitis,...	ORPHA:2331
Ring Chromosome 22 Syndrome	Thick vermilion border, Protruding tongue	ORPHA:1446
Au-Kline Syndrome	Lipomyelomeningocele, Dental malocclusion, Cleft palate, Downturned corners of mouth, Hypertensio...	OMIM:616580
Stiff-Person Syndrome	Exaggerated startle response, Opisthotonus	OMIM:184850
Hyperparathyroidism-Jaw Tumor Syndrome	Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia	ORPHA:99880
Microcephaly 26, Primary, Autosomal Dominant	Long philtrum, Gingival overgrowth, Protruding tongue	OMIM:619179
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Protruding tongue, Everted lower lip vermilion, High palate, Open mouth, Smooth philtrum	OMIM:617804
Primary Fanconi Renotubular Syndrome	Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc...	ORPHA:3337
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper...	OMIM:608670
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Protruding tongue, Diastema, Thick lower lip vermilion, Reduced alpha/beta synthesis ratio, Hypoc...	OMIM:301040
Parathyroid Carcinoma	Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia	ORPHA:143
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response, Optic nerve hypoplasia	OMIM:617864
Alport Syndrome 3A, Autosomal Dominant	Azotemia, Hypophosphatemia	OMIM:104200
Marshall-Smith Syndrome	Eclabion, Irregular dentition, Optic nerve hypoplasia, Pyloric stenosis, Hydrocephalus, Gingival ...	OMIM:602535
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Neutrophilia, Severe periodontitis, Protruding tongue, Microcytic anemia, Deep phil...	ORPHA:99843
Hallermann-Streiff Syndrome	Natal tooth, Abnormality of the dentition, High, narrow palate, Supernumerary tooth, Congestive h...	ORPHA:2108
Intellectual Developmental Disorder, Autosomal Dominant 29	Thin upper lip vermilion, Dental crowding, Narrow palate, High palate, Thick vermilion border, Na...	OMIM:616078
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Xerostomia, Preaxial polydactyly, Conical incisor, Radial deviation of t...	OMIM:149730
Mend Syndrome	Abnormal auditory evoked potentials, Aortic valve stenosis, Low-set ears	ORPHA:401973
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Facial palsy, Protruding tongue, Macroglossia, Cardiomyopathy, Reduced left ventricular ejection ...	ORPHA:258
Slc35A2-Cdg	Increased circulating thyroglobulin level, Abnormal midbrain morphology, Atrophy/Degeneration aff...	ORPHA:356961
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Angelman Syndrome	Optic disc pallor, Protruding tongue, Optic atrophy, Wide mouth, Widely spaced teeth	ORPHA:72
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Retinal dystrophy, Intestinal malrotation, Hamartoma of tongue, Pancreatic fibr...	OMIM:263520
Singleton-Merten Syndrome 1	Thin upper lip vermilion, Hypoplastic distal radial epiphyses, Coxa valga, Hypoplasia of the maxi...	OMIM:182250
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Optic atrophy	OMIM:617301
Smith-Lemli-Opitz Syndrome	Aganglionic megacolon, Abnormal dental enamel morphology, Abnormal dental morphology, Pyloric ste...	ORPHA:818
Spondyloepiphyseal Dysplasia Congenita	Retinal detachment, Glossoptosis, Cleft palate	ORPHA:94068
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, Dilated cardiomyopathy, A...	ORPHA:89842
Pachyonychia Congenita 3	Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue	OMIM:615726
Robinow Syndrome	Dental crowding, Persistence of primary teeth, Dental malocclusion, Gingival overgrowth, Orofacia...	ORPHA:97360
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Microdontia, Oral leukoplakia, Furrowed tongue	OMIM:148210
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Bifid tongue, Anal at...	OMIM:613091
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Multiple Endocrine Neoplasia Type 2	Aganglionic megacolon, Abnormal tongue morphology, Neoplasm of the liver, Thick vermilion border,...	ORPHA:653
Ritscher-Schinzel Syndrome 2	Intestinal malrotation, High palate, Short philtrum, Protruding tongue	OMIM:300963
Sandhoff Disease	Cherry red spot of the macula, Exaggerated startle response	OMIM:268800
Robinow Syndrome, Autosomal Dominant 1	Delayed eruption of teeth, Thin upper lip vermilion, Short lingual frenulum, Dental crowding, Per...	OMIM:180700
Meckel Syndrome, Type 1	Accessory spleen, Occipital encephalocele, Thin upper lip vermilion, Natal tooth, Intestinal malr...	OMIM:249000
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Robinow Syndrome, Autosomal Recessive 1	Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Gingival overgrowth, Wide ...	OMIM:268310
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Degeneration of anterior horn cells, Spinocerebellar trac...	ORPHA:276244
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Optic atrophy	OMIM:617281
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response, Optic nerve hypoplasia, Hypoasparaginemia	OMIM:615574
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Chand Syndrome	Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla...	ORPHA:1401
Stuve-Wiedemann Syndrome 1	Pursed lips, Carious teeth, Thin vermilion border, Smooth tongue, Abnormal autonomic nervous syst...	OMIM:601559
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv...	ORPHA:1031
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Gastrointestinal hemorrhage, Acan...	ORPHA:97280
Peters-Plus Syndrome	Short lingual frenulum, Single transverse palmar crease, Polyhydramnios, Micrognathia, Hypoplasia...	OMIM:261540
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Cleft lip, Optic atrophy, Furrowed tongue, High palate, Broad alveolar ridges, Annular pancreas, ...	OMIM:616975
Kinsship Syndrome	Thin upper lip vermilion, Thick lower lip vermilion, Gingival overgrowth, Downturned corners of m...	OMIM:619297
1Q21.1 Microdeletion Syndrome	Hydrocephalus, Ankyloglossia, High palate, Long philtrum	ORPHA:250989
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to...	ORPHA:158668
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Optic atrophy, Dystonia	ORPHA:521426
Cerebrocostomandibular Syndrome	Anal stenosis, Cleft soft palate, Carious teeth, Cleft lip, Pierre-Robin sequence, Cleft palate, ...	OMIM:117650
Helsmoortel-Van Der Aa Syndrome	Thin upper lip vermilion, Facial palsy, Carious teeth, High, narrow palate, Thick lower lip vermi...	OMIM:615873
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Abnormal medulla oblongata morphology, Facial palsy, Abnormal midbrain morph...	ORPHA:68
Distal 22Q11.2 Microdeletion Syndrome	Aortic regurgitation, Thin upper lip vermilion, High, narrow palate, Pyloric stenosis, Cleft pala...	ORPHA:261330
Cousin Syndrome	Hydrocephalus, Alveolar ridge overgrowth, Cleft palate, Hydranencephaly, Microglossia	OMIM:260660
Autosomal Dominant Robinow Syndrome	Median cleft lip and palate, Open bite, High, narrow palate, Abnormality of the gingiva, Supernum...	ORPHA:3107
Gm1 Gangliosidosis Type 1	Cherry red spot of the macula, Exaggerated startle response, Dystonia	ORPHA:79255
Stickler Syndrome	Retinal detachment, Abnormal dental enamel morphology, Cleft upper lip, Open bite, Abnormal vitre...	ORPHA:828
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Optic atrophy	OMIM:617527
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Protruding tongue	OMIM:619580
Spastic Paraplegia 9A, Autosomal Dominant	Abnormal upper motor neuron morphology	OMIM:601162
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Cleft palate, Downturned corners of mouth, Annular pancreas, Rod-cone dystrophy, Ankyloglossia	ORPHA:488642
Pallister-Hall Syndrome	Natal tooth, Cleft upper lip, Cleft palate, Anteriorly placed anus, Holoprosencephaly, Microgloss...	OMIM:146510
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Aganglionic megacolon, Dental crowding, Intestinal malrotation, Pyloric stenosis, H...	OMIM:270400
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Eclabion, Thin upper lip vermilion, Cleft soft palate, High, narrow palate, Deep philtrum, Cleft ...	OMIM:619950
Microsporidiosis	Brain abscess, Cholangitis, Abnormality of the spleen, Peritonitis, Myocarditis, Biliary tract ab...	ORPHA:2552
Orofaciodigital Syndrome Type 14	Accessory oral frenulum, Hamartoma of tongue, Supernumerary tooth, Aplasia of the epiglottis, Cle...	ORPHA:434179
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Enamel hypoplasia, Smooth tongue, Anemia, Oral mucosal blisters	ORPHA:79396
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Thin upper lip vermilion, Natal tooth, Aplasia of the thymus, Facial palsy, Carious teeth, Optic ...	OMIM:620186
Yunis-Varon Syndrome	Premature loss of primary teeth, Abnormality of dental structure, High, narrow palate, Hydrocepha...	ORPHA:3472
Opitz Gbbb Syndrome	Natal tooth, Cleft lip, Tracheoesophageal fistula, Cleft palate, Ectopic anus, High palate, Hypod...	ORPHA:2745
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Polyhydramnios, Micrognathia, High palate, Syndactyly, Broad hallux, Highly arch...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Polyhydramnios, Micrognathia, High palate, Syndactyly, Broad hallux, Highly arch...	ORPHA:353277
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Protruding tongue, Gingival overgrowth, High palate, Microdontia, Ena...	OMIM:619777
Distal Deletion 12Q	Median cleft lip, High, narrow palate, Supernumerary tooth, Esophageal atresia, Pyloric stenosis,...	ORPHA:96149
Catel-Manzke Syndrome	Cleft upper lip, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Narrow mouth, Bi...	OMIM:616145
Hutchinson-Gilford Progeria Syndrome	Short lingual frenulum, Dental crowding, Myocardial infarction, Intracranial hemorrhage, High pal...	ORPHA:740
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated hepatic transaminase, Thin upper lip vermilion, Hepatic steatosis, Aortic regurgitation,...	OMIM:619475
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Thin upper lip vermilion, Congestive heart failure, Downturned corners of mouth, Glossoptosis, Ma...	ORPHA:444077
Degcags Syndrome	Leukopenia, Iron deficiency anemia, High palate, Hepatomegaly, Hiatus hernia, Congenital hypoplas...	OMIM:619488
Cowden Syndrome	Furrowed tongue, Hamartomatous polyposis, Macroglossia, Colorectal polyposis, High palate, Mucosa...	ORPHA:201
Distal Deletion 15Q	Thin upper lip vermilion, Abnormality of the dentition, Cleft palate, Short philtrum, Mitral sten...	ORPHA:1596
Lenz-Majewski Hyperostotic Dwarfism	Abnormality of the dentition, Cleft palate, Anteriorly placed anus, Microglossia, Spina bifida oc...	OMIM:151050
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Natal tooth, Dental crowding, Broad hallux, Carious teeth, Avascular necrosis of the capital femo...	ORPHA:353281
Down Syndrome	Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Acute megakaryocytic leukemia, Macro...	OMIM:190685
Duplication Of The Pituitary Gland	Congenital stationary night blindness, Encephalocele, Abnormal midbrain morphology	ORPHA:314621
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Thin upper lip vermilion, Tented upper lip vermilion, Hypoplastic philtrum, Protruding tongue, Th...	OMIM:309580
Fontaine Progeroid Syndrome	Thin upper lip vermilion, Tricuspid regurgitation, Protruding tongue, High, narrow palate, Hydroc...	OMIM:612289
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:619525
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Thin upper lip vermilion, Septo-optic dysplasia, Epistaxis, Agenesis...	OMIM:619841
Schinzel-Giedion Syndrome	Abnormality of the stapes, Aganglionic megacolon, Hypsarrhythmia, Abnormal cochlea morphology, La...	ORPHA:798
Fraser Syndrome	Encephalocele, Anal stenosis, Dental crowding, Cleft upper lip, Myelomeningocele, Dental malocclu...	ORPHA:2052
Achondrogenesis, Type Ia	Protruding tongue	OMIM:200600
Okur-Chung Neurodevelopmental Syndrome	Thin upper lip vermilion, High palate, Protruding tongue	OMIM:617062
Plague	Chapped lip, Hepatomegaly, Tachycardia, Hematemesis, Splenomegaly, Enterocolitis, Inflammation of...	ORPHA:707
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatoblastoma, Exaggerated median tongue furrow, Hepatomegaly, Gingival overgrowth, Cardiomyopat...	OMIM:312870
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Erosion of oral mucosa, Anal fissure, Oral mucosal blisters, Carious teeth, Dilated cardiomyopath...	ORPHA:79408
Okamoto Syndrome	Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Intestinal malrotati...	ORPHA:2729
Blomstrand Lethal Chondrodysplasia	Natal tooth, Long philtrum, Protruding tongue	ORPHA:50945
Norrie Disease	Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea morphology, EEG...	ORPHA:649
Stüve-Wiedemann Syndrome	Smooth tongue, Abnormal autonomic nervous system physiology, Abnormality of the dentition	ORPHA:3206
Viss Syndrome	Retinal detachment, Chronic gastritis, Epidural hemorrhage, Duodenitis, Intestinal malrotation, C...	OMIM:619472
Bilateral Perisylvian Polymicrogyria	Facial diplegia, Protruding tongue	ORPHA:98889
Choreoacanthocytosis	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Protruding tongue, A...	ORPHA:2388
Neuroocular Syndrome	Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Short uvula, Submucous cleft ha...	OMIM:619539
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Cleft upper lip, Esophageal atresia, Congenital hepatic fibrosis, Ectopic anus, Long philtrum, Bi...	ORPHA:93271
Carney Complex	Neoplasm of the pancreas, Neoplasm of the stomach, Esophageal neoplasm, Congestive heart failure,...	ORPHA:1359
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Optic disc pallor, Exaggerated startle response, Decreased serum iron, Dystonia	ORPHA:438213
Pallister-Hall Syndrome	Natal tooth, Accessory oral frenulum, Cleft lip, Cleft palate, Holoprosencephaly, Microglossia, B...	ORPHA:672
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Abnormal midbrain morphology, Abnormal autonomic nervous system physiology	ORPHA:293987
Microphthalmia, Syndromic 6	Retinal dystrophy, Cleft palate, High palate, Microglossia, Bifid uvula	OMIM:607932
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response	OMIM:619522

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 Ngfr

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 Ngfr.

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

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Ngfr^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Ngfr^{tm1c(EUCOMM)Wtsi}	Wild type floxed exon (post-Flp)	Mice
Ngfr^{tm73(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Ngfr^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Ngfr^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Ngfr^{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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Ngfr MGI:97323

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Echo

Adult LacZ

X-ray

X-ray

Embryo LacZ

MicroCT E18.5

X-ray

Auditory Brain Stem Response

Human diseases caused by Ngfr mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data