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Gene: Pts MGI:1338783

Gene Summary

Name:

6-pyruvoyl-tetrahydropterin synthase

Synonyms:

N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
increased large unstained cell number		Pts^{tm1b(EUCOMM)Wtsi}	HET		Early adult	1.32×10^-05
preweaning lethality, complete penetrance		Pts^{tm1b(EUCOMM)Wtsi}	HOM		Early adult	0.00

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lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	Wholemount images	heterozygote	100% (2 of 2)
Brain	Wholemount images	heterozygote	100% (2 of 2)
Brainstem	Wholemount images	heterozygote	100% (2 of 2)
Brown adipose tissue	Wholemount images	heterozygote	100% (2 of 2)
Cartilage tissue	Wholemount images	heterozygote	100% (2 of 2)
Cerebellum	Wholemount images	heterozygote	100% (2 of 2)
Cerebral cortex	Wholemount images	heterozygote	100% (2 of 2)
Esophagus	Wholemount images	heterozygote	50% (1 of 2)
Eye	Wholemount images	heterozygote	100% (2 of 2)
Heart	Wholemount images	heterozygote	100% (2 of 2)
Hippocampus	Wholemount images	heterozygote	100% (2 of 2)
Hypothalamus	Wholemount images	heterozygote	100% (2 of 2)
Kidney	Wholemount images	heterozygote	100% (2 of 2)
Large intestine	Wholemount images	heterozygote	50% (1 of 2)
Lower urinary tract	Wholemount images	heterozygote	100% (2 of 2)
Lung	Wholemount images	heterozygote	100% (2 of 2)
Olfactory lobe	Wholemount images	heterozygote	100% (2 of 2)
Ovary	Wholemount images	heterozygote	50% (1 of 2)
Oviduct	Wholemount images	heterozygote	50% (1 of 2)
Pancreas	Wholemount images	heterozygote	100% (2 of 2)
Parathyroid gland	Wholemount images	heterozygote	100% (2 of 2)
Peripheral nervous system	Wholemount images	heterozygote	100% (2 of 2)
Pituitary gland	Wholemount images	heterozygote	100% (2 of 2)
Skeletal muscle	Wholemount images	heterozygote	100% (2 of 2)
Spinal cord	Wholemount images	heterozygote	100% (2 of 2)
Stomach	Wholemount images	heterozygote	100% (2 of 2)
Striatum	Wholemount images	heterozygote	100% (2 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
Thymus	Wholemount images	heterozygote	100% (2 of 2)
Thyroid gland	Wholemount images	heterozygote	100% (2 of 2)
Trachea	Wholemount images	heterozygote	100% (2 of 2)
Vascular system	Wholemount images	heterozygote	100% (2 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Liver	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)
Oral epithelium	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	50% (1 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	Not available
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

No Embryo expression data was found for this gene.

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%

No Embryo expression data was found for this gene.

Associated Images

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

MicroCT E14.5-E15.5

Embryo reconstruction

4 Images

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X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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Adult LacZ

LacZ Images Wholemount

21 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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Human diseases caused by Pts 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 Pts (2 diseases)
Human diseases predicted to be associated with Pts (1326 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency		Restlessness, Dystonia, Ataxia, Oculogyric crisis, Clonus, Rigidity, Chorea, Hypotonia, Opisthoto...	ORPHA:13
Hyperphenylalaninemia, Bh4-Deficient, A		Axial hypotonia, Dystonia, Ataxia, Parkinsonism, Hyperphenylalaninemia, Tremor, Rigidity, Choreoa...	OMIM:261640

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

Disease	Matching phenotypes	Source
Acid-Labile Subunit Deficiency	Reduced insulin like growth factor binding protein acid labile subunit concentration, Decreased s...	OMIM:615961
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Axial hypotonia, Cerebral palsy, Oculogyric crisis, Maturity-onset diabetes of the young, Parkins...	ORPHA:1578
Dystonia 30	Torticollis, Writer's cramp, Impulsivity, Aggressive behavior, Leg dystonia, Arm dystonia, Compul...	OMIM:619291
Episodic Ataxia, Type 1	Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre...	OMIM:160120
Sandhoff Disease, Adult Form	Elevated circulating creatine kinase concentration, Tremor, Dysphagia, Focal dystonia, Gait ataxi...	ORPHA:309169
Striatonigral Degeneration, Childhood-Onset	Elevated circulating creatine kinase concentration, Unsteady gait, Hypotonia, Dysphagia, Ankle cl...	OMIM:617054
Autosomal Dominant Focal Dystonia, Dyt25 Type	Axial dystonia, Torticollis, Focal dystonia, Limb dystonia, Lingual dystonia, Laryngeal dystonia,...	ORPHA:329466
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Dystonia 4, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Hemidystonia, Torsion dystonia, Dysphagia, Gait ataxia, Limb d...	OMIM:128101
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum	Short stature, Babinski sign, Cogwheel rigidity, Growth delay, Hypertonia, Attention deficit hype...	OMIM:618284
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Dystonia, Involuntary movements, Torsion dyst...	ORPHA:98807
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu...	OMIM:614561
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Ataxia, Decreased response to growth hormone stimulation test, Cryptorchidism, Growth d...	ORPHA:3363
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Dystonia 33	Axial dystonia, Limb dystonia, Axial hypotonia, Babinski sign, Dystonia, Spasticity	OMIM:619687
Dystonia With Cerebellar Atrophy	Torticollis, Dysphagia, Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia	OMIM:611694
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Hypertension, Paraganglioma	OMIM:618464
L-Ferritin Deficiency	Decreased circulating ferritin concentration, Restless legs, Alopecia	OMIM:615604
Parkinsonism-Dystonia 1, Infantile-Onset	Axial hypotonia, Dystonia, Oculogyric crisis, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal py...	OMIM:613135
Dystonia 16	Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si...	OMIM:612067
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Dystonia, Early-Onset, And/Or Spastic Paraplegia	Laryngeal dystonia, Spastic paraplegia, Difficulty walking, Dystonia	OMIM:619681
Atypical Pantothenate Kinase-Associated Neurodegeneration	Limb dystonia, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Spas...	ORPHA:216873
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park...	OMIM:128230
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Autosomal Recessive Spastic Paraplegia Type 56	Unsteady gait, Spastic paraplegia, Babinski sign, Tip-toe gait, Dystonia, Spastic gait	ORPHA:320411
Dystonia 25	Lingual dystonia, Torticollis, Laryngeal dystonia, Limb dystonia	OMIM:615073
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Dystonia 6, Torsion	Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ...	OMIM:602629
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Oliver-Mcfarlane Syndrome	Hypoplasia of penis, Alopecia, Hypogonadotropic hypogonadism, Decreased response to growth hormon...	OMIM:275400
Spastic Ataxia 1, Autosomal Dominant	Spastic ataxia, Spastic paraplegia, Dysphagia, Gait disturbance, Dystonia	OMIM:108600
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Dystonia 31	Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin...	OMIM:619565
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Axial hypotonia, Tremor, Death in childhood, Agitation, Myoclonus, Compulsive behaviors, Dystonia	OMIM:619651
Primary Dystonia, Dyt17 Type	Torticollis, Generalized dystonia, Parkinsonism, Craniofacial dystonia	ORPHA:370103
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Limb dystonia, Hyperactivity, Ataxia, Aggressive behavior, Tremor, Hypotonia, Intermittent diarrh...	OMIM:620270
Myoclonus-Dystonia Syndrome	Torticollis, Writer's cramp, Myoclonus, Compulsive behaviors, Dystonia, Spinal myoclonus, Limb my...	ORPHA:36899
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum	Babinski sign, Unsteady gait, Spastic paraplegia, Tip-toe gait, Dystonia	OMIM:615030
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Inappropriate behavior, Myoclonus, Dystonia, Uppe...	ORPHA:401901
Dystonia 28, Childhood-Onset	Torticollis, Short stature, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dysto...	OMIM:617284
Dystonia 32	Limb dystonia, Torticollis, Laryngeal dystonia, Dysphagia	OMIM:619637
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Hypermanganesemia, Infantile axial hypotonia, Parkinsonism, Tremor, Babinski sign, Scissor gait, ...	ORPHA:521406
Dystonia 16	Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Dysphagia, Br...	ORPHA:210571
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar...	ORPHA:2722
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Hyperphenylalaninemia, Bh4-Deficient, C	Dystonia, Hyperphenylalaninemia, Tremor, Hypotonia, Choreoathetosis, Hypertonia, Myoclonus, Dysph...	OMIM:261630
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Axial hypotonia, Ataxia, Aggressive behavior, Tremor, Growth delay, Choreoathetosi...	OMIM:612716
Bullous Dystrophy, Hereditary Macular Type	Severe short stature, Alopecia totalis, Death in childhood, Abnormality of the nail, Hyperpigment...	OMIM:302000
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia...	ORPHA:453533
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Axial hypotonia, Dystonia, Ataxia, Tremor, Hypotonia, Dysmetria, Increased...	OMIM:617916
Dystonia 23	Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dystonia	OMIM:614860
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Neonatal death, Bradycardia, Mildly elevated creatine kinase	OMIM:620265
Hemidystonia-Hemiatrophy Syndrome	Limb dystonia, Rhizomelic leg shortening, Babinski sign, Abnormal pyramidal sign, Hemiparesis, Dy...	ORPHA:306741
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Alopecia totalis	ORPHA:1014
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetrapar...	OMIM:615924
Spinocerebellar Ataxia 37	Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls	OMIM:615945
Dystonia 28	Torticollis, Generalized dystonia, Short stature, Precocious puberty, Abnormal pyramidal sign, Le...	ORPHA:589618
Spastic Paraparesis And Deafness	Tremor, Hypogonadism, Short stature, Spastic paraparesis	OMIM:312910
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Axial hypotonia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia...	OMIM:607317
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Axial hypotonia, Dystonia, Ataxia, Aggressive behavior, Chorea, Poor coordination, Falls, Inappro...	OMIM:619150
Graham Little-Piccardi-Lassueur Syndrome	Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair	ORPHA:505
Paroxysmal Exertion-Induced Dyskinesia	Lower limb spasticity, Ataxia, Involuntary movements, Aggressive behavior, Chorea, Torsion dyston...	ORPHA:98811
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Mitochondrial Complex I Deficiency, Nuclear Type 23	Hypotonia, Growth delay, Generalized hypotonia, Dystonia, Hypertrichosis	OMIM:618244
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Dystonia 12	Torticollis, Parkinsonism, Tremor, Unsteady gait, Dysphagia, Bradykinesia, Dystonia	OMIM:128235
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypotonia, Hyp...	OMIM:612736
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Spastic paraplegia, Babinski sign, Limb ...	ORPHA:251282
Segawa Syndrome, Autosomal Recessive	Axial hypotonia, Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor...	OMIM:605407
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Axial hypotonia, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Idiopathic Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iodine upta...	ORPHA:95717
Paroxysmal Non-Kinesigenic Dyskinesia	Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy...	ORPHA:98810
Infantile Dystonia-Parkinsonism	Axial hypotonia, Cerebral palsy, Oculogyric crisis, Parkinsonism, Chorea, Abnormal pyramidal sign...	ORPHA:238455
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Axial hypotonia, Tremor, Myoclonus, Dystonia, Frequent falls, Hypothyroidism	OMIM:619647
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod...	OMIM:617294
Thumb Deformity And Alopecia	Alopecia, Short stature, Increased groin pigmentation with raindrop depigmentation	OMIM:188150
Dystonia 11, Myoclonic	Torticollis, Writer's cramp, Tremor, Hypotonia, Myoclonus, Compulsive behaviors	OMIM:159900
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Sulfite Oxidase Deficiency, Isolated	Death in infancy, Sulfocysteinuria, Axial hypotonia, Generalized dystonia, Ataxia, Elevated circu...	OMIM:272300
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Huntington Disease	Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Clumsiness, Addictive alcohol us...	ORPHA:399
Spinal Muscular Atrophy, Jokela Type	Tremor, Elevated circulating creatine kinase concentration, Fasciculations, Difficulty walking	OMIM:615048
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis	OMIM:606445
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Stxbp1-Related Encephalopathy	Hyperactivity, Ataxia, Tremor, Inability to walk, Hypotonia, Spastic tetraplegia, Dystonia, Spast...	ORPHA:599373
Spinocerebellar Ataxia Type 28	Limb dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, H...	ORPHA:101109
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal circulating calcium concentration, Abnormal pyra...	OMIM:213600
Lipoyltransferase 1 Deficiency	Hyperglutaminemia, Hyperprolinemia, Alaninuria, Bradycardia, Pulmonary arterial hypertension, Hyp...	OMIM:616299
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Torticollis, Parkinsonism, Dysphagia, Gait ataxia, Bradykinesia, Generalized hypo...	ORPHA:71517
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Short stature, Severe temper tantrums, Hemidystonia, Spastic tetraparesis, Abnormal pyramidal sig...	OMIM:619052
Mitochondrial Complex I Deficiency, Nuclear Type 3	Ataxia, Abnormal pyramidal sign, Death in childhood, Abnormality of extrapyramidal motor function...	OMIM:618224
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Synophrys, Unsteady gait, Slurred speech, Truncal ataxia, Dysmetria, Gait ataxia, Clumsiness, Bab...	ORPHA:453521
Spinocerebellar Ataxia, Autosomal Recessive 17	Broad-based gait, Ataxia, Synophrys, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Truncal at...	OMIM:616127
Neurodegeneration With Brain Iron Accumulation 3	Dystonia, Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoat...	OMIM:606159
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ...	OMIM:616201
Autosomal Recessive Dopa-Responsive Dystonia	Generalized dystonia, Postural tremor, Oculogyric crisis, Ataxia, Parkinsonism, Rigidity, Babinsk...	ORPHA:101150
Familial Thyroid Dyshormonogenesis	Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El...	ORPHA:95716
Hypermanganesemia With Dystonia 2	Elevated circulating creatine kinase concentration, Tremor, Scissor gait, Opisthotonus, Hyperhidr...	OMIM:617013
Candidiasis, Familial, 1	Abnormality of the endocrine system, Alopecia	OMIM:114580
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature...	ORPHA:90795
Lower Motor Neuron Syndrome With Late-Adult Onset	Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Gait disturbance, ...	ORPHA:276435
Paroxysmal Nonkinesigenic Dyskinesia 1	Paroxysmal dystonia, Torticollis, Paroxysmal choreoathetosis, Dysphagia	OMIM:118800
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Cerebral palsy, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behavi...	OMIM:301107
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia, Transient hyperphenylalaninemia, Generalized hypotonia, Hyperphenylalaninemia	OMIM:264070
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2	Rigidity, Difficulty walking, Dystonia	OMIM:619661
Atypical Rett Syndrome	Tremor, Gait ataxia, Loss of ambulation, Restrictive behavior, Tongue thrusting, Abnormal muscle ...	ORPHA:3095
Hyperphenylalaninemia, Bh4-Deficient, B	Dystonia, Severe muscular hypotonia, Hyperphenylalaninemia, Tremor, Rigidity, Choreoathetosis, Hy...	OMIM:233910
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1	Intrauterine growth retardation, Axial hypotonia, Spastic tetraplegia, Dystonia	OMIM:251280
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Involuntary movements, Inability to walk, Hypotonia, Self-injurious behavior, Dystonia, Spasticit...	OMIM:617820
Dystonia 17, Torsion, Autosomal Recessive	Torticollis, Focal dystonia	OMIM:612406
Neurodegeneration With Brain Iron Accumulation 6	Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Gait disturbance, Compulsive...	OMIM:615643
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Dystonia, Severe muscular hypotonia, Oculogyric crisis, Inability to walk, Chorea, Hypotonia, Sel...	OMIM:614254
Saccharopinuria	Citrullinuria, Short stature, Tremor, Hypercystinemia, Spastic diplegia, Gait ataxia, Hyperammone...	ORPHA:3124
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome	Restlessness, Ataxia, Spastic tetraplegia, Tetraparesis, Dystonia, Infantile muscular hypotonia	ORPHA:263410
Lopes-Maciel-Rodan Syndrome	Axial hypotonia, Dystonia, Tremor, Unsteady gait, Abnormal pyramidal sign, Dysphagia, Bradykinesi...	OMIM:617435
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Congestive heart failure, Decreased plasma free carnitine, Bradycardia, Hyperalaninemia, Intraute...	OMIM:619048
Spastic Paraplegia 87, Autosomal Recessive	Lower limb spasticity, Babinski sign, Upper limb spasticity, Dystonia, Spastic gait	OMIM:619966
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Hand tremor, Head tremor, Hypothyroidism, Alopecia, Gait disturbance, Truncal ataxia, Oculomotor ...	ORPHA:412057
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient	Broad-based gait, Axial hypotonia, Dystonia, Oculogyric crisis, Parkinsonism, Bradykinesia, Hyper...	OMIM:617384
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Baker-Gordon Syndrome	Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, Hyper...	OMIM:618218
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Death in early adulthood, Dystonia, Hypogonadotropic hypogonadism, Short stature, Postural tremor...	OMIM:607694
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Glut1 Deficiency Syndrome 1	Paroxysmal dystonia, Ataxia, Paralysis, Paroxysmal lethargy, Babinski sign, Choreoathetosis, Hemi...	OMIM:606777
Episodic Kinesigenic Dyskinesia 3	Choreoathetosis, Torticollis, Involuntary movements, Dystonia	OMIM:620245
Striatonigral Degeneration, Infantile	Choreoathetosis, Spasticity, Dystonia, Dysphagia	OMIM:271930
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia	OMIM:600331
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Rigidity, Tremor, Hypotonia, Pre...	ORPHA:33445
Leukoencephalopathy With Dystonia And Motor Neuropathy	Torticollis, Hypergonadotropic hypogonadism, Azoospermia, Elevated circulating pristanic acid con...	OMIM:613724
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Abnormal eyelash morphology, Melanocytic nevus, Sparse body hair, Alopecia uni...	ORPHA:1008
Spinocerebellar Ataxia 17	Broad-based gait, Ataxia, Parkinsonism, Aggressive behavior, Rigidity, Chorea, Dysphagia, Dysmetr...	OMIM:607136
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Restlessness, Dystonia, Ataxia, Oculogyric crisis, Clonus, Rigidity, Chorea, Hypotonia, Opisthoto...	ORPHA:13
Spinocerebellar Ataxia Type 11	Abnormal pyramidal sign, Dysphagia, Progressive cerebellar ataxia, Gait imbalance, Difficulty wal...	ORPHA:98767
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome	Paroxysmal dystonia, Writer's cramp	ORPHA:163727
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	Axial hypotonia, Inability to walk, Chorea, Self-injurious behavior, Dystonia, Stereotypical hand...	OMIM:618760
Developmental And Epileptic Encephalopathy 92	Ataxia, Inability to walk, Myoclonus, Difficulty walking, Dystonia, Lethargy, Spasticity	OMIM:617829
Combined Oxidative Phosphorylation Deficiency 50	Generalized dystonia, Short stature, Adrenal insufficiency, Dysphagia, Intrauterine growth retard...	OMIM:619025
Familial Infantile Bilateral Striatal Necrosis	Dystonia, Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Cogwheel rigidity, Choreoathetos...	ORPHA:225154
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking	OMIM:158580
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Foxg1 Syndrome	Dystonia, Short stature, Inability to walk, Hypotonia, Choreoathetosis, Severe postnatal growth r...	ORPHA:561854
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst...	ORPHA:314632
Dentatorubral-Pallidoluysian Atrophy	Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia	OMIM:125370
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia	OMIM:600116
Hyperphenylalaninemia, Bh4-Deficient, A	Axial hypotonia, Dystonia, Ataxia, Parkinsonism, Hyperphenylalaninemia, Tremor, Rigidity, Choreoa...	OMIM:261640
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Restlessness, Axial hypotonia, Ataxia, Inability to walk, Athetosis, Abnormality of extrapyramida...	OMIM:615159
Progressive Supranuclear Palsy-Corticobasal Syndrome	Apraxia, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dy...	ORPHA:240103
Crandall Syndrome	Alopecia, Hypoplasia of penis, Brittle hair, Fine hair, Hypogonadism, Sparse body hair, Abnormal ...	ORPHA:202
Parkinson Disease 19A, Juvenile-Onset	Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai...	OMIM:615528
Parkinsonism-Dystonia 2, Infantile-Onset	Axial hypotonia, Ataxia, Oculogyric crisis, Parkinsonism, Incoordination, Tremor, Hypotonia, Hype...	OMIM:618049
4H Leukodystrophy	Dystonia, Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Decreased response to...	ORPHA:289494
Epilepsy, Nocturnal Frontal Lobe, 4	Dystonia	OMIM:610353
Myopathy, Myofibrillar, 1	Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa...	OMIM:601419
Striatonigral Degeneration, Infantile, Mitochondrial	Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Hypotonia, Paroxysmal cho...	OMIM:500003
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl...	ORPHA:60041
Classic Glucose Transporter Type 1 Deficiency Syndrome	Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy...	ORPHA:71277
Spastic Paraplegia 53, Autosomal Recessive	Clonus, Spastic paraplegia, Lower limb hypertonia, Gait disturbance, Upper limb hypertonia, Dysto...	OMIM:614898
Long Qt Syndrome 16	Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia	OMIM:618782
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Hypogonadism, Truncal ataxia, Sp...	OMIM:615768
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Hypergonadotropic hypogonadism, Short stature, Hypotonia, Growth del...	ORPHA:2850
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy	Ataxia, Abnormal pyramidal sign, Dystonia	OMIM:619196
Moynahan Syndrome	Sparse hair, Alopecia, Hypogonadism, Short stature	ORPHA:2574
Migraine, Familial Hemiplegic, 1	Ataxia, Tremor, Hemiparesis, Agitation, Hemiplegia	OMIM:141500
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Short stature, Sparse eyebrow, Fine hair, Hypohidrosis, Dystrophic f...	ORPHA:1882
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Sparse eyelashes, Elevated circulating creatine kinase concentration, Sparse eyebrow, H...	OMIM:615704
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Ataxia, Inability to walk, Hypotonia, Tongue fasciculations, Tetraparesis, Dystonia, Spasticity	OMIM:618276
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Chorea, Hypotonia, Self-injurious behavior, Athetosis...	ORPHA:382
Corticobasal Syndrome	Limb dystonia, Speech apraxia, Parkinsonism, Akinesia, Limb apraxia, Tremor, Involuntary movement...	ORPHA:454887
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Ataxia, Babinski sign, Hypotonia, Dysphagia, Dysmetria, Choreoathetosis, Dystonia, Loss of ambula...	OMIM:618088
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Falls, Dystonia, Parkinsonism with favor...	ORPHA:240085
Episodic Kinesigenic Dyskinesia 2	Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia	OMIM:611031
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Waddling gait, Lower limb spasticity, Broad-based gait, Short stature, Ataxia, Inability to walk,...	OMIM:616756
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Extraadrenal pheochromocytoma, Glomus jugular tumor, Adrenal pheochromocytoma, Chemo...	OMIM:605373
Developmental And Epileptic Encephalopathy 53	Hypotonia, Spastic tetraplegia, Elevated circulating creatine kinase concentration, Dystonia	OMIM:617389
Paroxysmal Nonkinesigenic Dyskinesia 2	Paroxysmal dystonia	OMIM:611147
Dyskinesia, Limb And Orofacial, Infantile-Onset	Axial hypotonia, Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent f...	OMIM:616921
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hair, Hypotonia, Generalized hypo...	OMIM:256710
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Ataxia, Parkinsonism, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, Dysphagia, Brad...	OMIM:618317
Hsd10 Disease	Ataxia, Postnatal growth retardation, Tremor, Rigidity, Dysphagia, Choreoathetosis, Abnormal urin...	ORPHA:391417
Blepharonasofacial Malformation Syndrome	Torsion dystonia	OMIM:110050
Dyschromatosis Symmetrica Hereditaria	Torsion dystonia	ORPHA:41
Adrenoleukodystrophy	Alopecia, Incoordination, Bowel incontinence, Paraparesis, Spastic paraplegia, Primary adrenal in...	OMIM:300100
Spinocerebellar Ataxia, Autosomal Recessive 29	Lower limb spasticity, Axial hypotonia, Ataxia, Generalized dystonia, Inability to walk, Retinal ...	OMIM:619389
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Nail pits, Congenital alopecia totalis	ORPHA:169095
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Death in childhood, Melanin pigment...	OMIM:607624
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Hypotonia, Sm...	OMIM:619470
Spinocerebellar Ataxia 48	Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dysphagia, Dystonia	OMIM:618093
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Alternating Hemiplegia Of Childhood 2	Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Dystonia, Hemiplegia	OMIM:614820
Developmental And Epileptic Encephalopathy 7	Hypotonia, Spastic tetraparesis, Dystonia	OMIM:613720
Developmental And Epileptic Encephalopathy 69	Axial hypotonia, Inability to walk, Spastic tetraplegia, Hyperkinetic movements, Myoclonus, Dystonia	OMIM:618285
Huntington Disease-Like 2	Involuntary movements, Parkinsonism, Chorea, Gait disturbance, Dystonia	ORPHA:98934
Parkinsonism-Dystonia 3, Childhood-Onset	Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Growth delay, Hypertonia, Hy...	OMIM:619738
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Torticollis, Ataxia, Elevated circulating creatine kinase concentration, Babinski sign, Hypotonia...	OMIM:619054
Coenzyme Q10 Deficiency, Primary, 7	Intrauterine growth retardation, Hypertrophic cardiomyopathy, Bradycardia	OMIM:616276
Mitochondrial Complex I Deficiency, Nuclear Type 17	Generalized dystonia, Ataxia, Thick hair, Rigidity, Hypotonia, Gait disturbance, Dystonia	OMIM:618239
Neurodevelopmental Disorder With Dystonia And Seizures	Chorea, Spastic tetraplegia, Hypotonia, Hyperhidrosis, Self-injurious behavior, Athetosis, Consti...	OMIM:619922
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Severe short stature, Hyperpigmentation of the skin, Hypopigmented skin patches, Finger...	ORPHA:2251
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Spastic Paraplegia 80, Autosomal Dominant	Lower limb spasticity, Spastic paraplegia, Babinski sign, Limb ataxia, Bradykinesia, Upper limb s...	OMIM:618418
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia	Generalized hypotonia, Dystonia	OMIM:616763
Amyotrophic Lateral Sclerosis 2, Juvenile	Clonus, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Short stature...	OMIM:205100
Spinocerebellar Ataxia Type 20	Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Abnormal pyramidal sign, Ga...	ORPHA:101110
Developmental Delay And Seizures With Or Without Movement Abnormalities	Short stature, Ataxia, Tremor, Rigidity, Bradykinesia, Generalized hypotonia, Dystonia	OMIM:617836
Carnitine-Acylcarnitine Translocase Deficiency	Cardiac arrest, Elevated circulating creatine kinase concentration, Ventricular tachycardia, Atri...	OMIM:212138
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, Inability to walk, Chorea, Abnormal py...	ORPHA:500180
X-Linked Dystonia-Parkinsonism	Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Torsion dystonia, Hand trem...	ORPHA:53351
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Axial hypotonia, Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Hyperhidrosis, Growth delay...	ORPHA:70594
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Spinocerebellar Ataxia, Autosomal Recessive 31	Axial hypotonia, Dystonia, Ataxia, Tremor, Dysphagia, Growth delay, Choreoathetosis, Death in chi...	OMIM:619422
Leukodystrophy, Hypomyelinating, 21	Hypogonadotropic hypogonadism, Ataxia, Cryptorchidism, Growth delay, Athetosis, Tetraparesis, Dys...	OMIM:619310
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Combined Oxidative Phosphorylation Deficiency 10	Hyperammonemia, Bradycardia, Hyperalaninemia, Hypertrophic cardiomyopathy, Intrauterine growth re...	OMIM:614702
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Hypergonadotropic hypogonadism, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, ...	OMIM:617145
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Torsion Dystonia With Onset In Infancy	Torsion dystonia	OMIM:602554
Dystonia 35, Childhood-Onset	Dystonia	OMIM:619921
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Restlessness, Resting tremor, Axial hypotonia, Facial hypotonia, Dystonia, Ataxia, Parkinsonism, ...	OMIM:300055
Developmental And Epileptic Encephalopathy 97	Tremor, Inability to walk, Hypotonia, Stereotypical hand wringing	OMIM:619561
Paroxysmal Kinesigenic Dyskinesia	Involuntary movements, Writer's cramp, Chorea, Athetosis, Dystonia	ORPHA:98809
Juvenile Huntington Disease	Hyperactivity, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive...	ORPHA:248111
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Sparse eyebrow, Growth delay, Progress...	ORPHA:2985
Menkes Disease	Alopecia, Brittle hair, Short stature, Decreased circulating ceruloplasmin concentration, Babinsk...	OMIM:309400
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Tachycardia, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, ...	OMIM:168000
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection...	ORPHA:66529
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Ataxia, Involuntary movements, Insulin-resistant diabetes mellitus, Chorea, Diffi...	ORPHA:401768
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Intellectual Developmental Disorder, X-Linked 104	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Frontal upsweep of hair, Spasticity	OMIM:300983
Severe Neurodegenerative Syndrome With Lipodystrophy	Hyperactivity, Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Hyperinsulinemia, A...	ORPHA:363400
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav...	ORPHA:101016
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Axial hypotonia, Dystonia, Rigidity, Truncal titubation, Inability to walk, Chorea, Abnormal pyra...	OMIM:607483
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr...	OMIM:601494
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Dystonia, Inability to walk, Hypotonia, Choreoathetosis, Hyperkinetic movements, Gastroesophageal...	OMIM:618497
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Axial hypotonia, Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls	ORPHA:494526
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Dystonia, Ataxia, Incoordination, Aggressive behavior, Tremor, Paraparesis, Gait ...	OMIM:615157
Oxoglutarate Dehydrogenase Deficiency	Rigidity, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Death in childhood, Falls, Dystonia	OMIM:203740
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Mixed hypo- and hyperpigmentation of the skin, Hypermelanotic macule, Reticulated skin ...	ORPHA:79397
Urocanase Deficiency	Broad-based gait, Short stature, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ata...	OMIM:276880
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia	OMIM:605909
Encephalopathy Due To Prosaposin Deficiency	Death in infancy, Myoclonus, Hypotonia, Dystonia	ORPHA:139406
Ataxia-Telangiectasia-Like Disorder	Hypergonadotropic hypogonadism, Short stature, Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadoch...	ORPHA:251347
Dystonia 15, Myoclonic	Myoclonus, Writer's cramp, Dystonia	OMIM:607488
Kufor-Rakeb Syndrome	Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Par...	OMIM:606693
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome	Dystonia, Ataxia, Dysphagia	ORPHA:1171
Severe Intellectual Disability And Progressive Spastic Paraplegia	Waddling gait, Facial hypotonia, Short stature, Babinski sign, Hypotonia, Spastic dysarthria, Dif...	ORPHA:280763
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Postural tremor, Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating...	ORPHA:64753
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Oculogyric crisis, Tremor, Inability to walk, Difficulty walking, Dystonia, Delayed menarche	ORPHA:330050
Alpha-Methylacyl-Coa Racemase Deficiency	Hypergonadotropic hypogonadism, Ataxia, Tremor, Elevated circulating phytanic acid concentration,...	OMIM:614307
Kerion Celsi	Alopecia	ORPHA:499
Coenzyme Q10 Deficiency, Primary, 5	Hyperalaninemia, Intrauterine growth retardation, Bradycardia	OMIM:614654
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Dystonia, Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Hypotonia, Clumsiness, ...	OMIM:617282
Leukodystrophy, Hypomyelinating, 14	Growth delay, Spasticity, Generalized hypotonia, Dystonia	OMIM:617899
16P11.2P12.2 Microduplication Syndrome	Hypospadias, Attention deficit hyperactivity disorder, Dystonia	ORPHA:261204
Alternating Hemiplegia Of Childhood 1	Choreoathetosis, Episodic hemiplegia, Episodic quadriplegia, Dystonia	OMIM:104290
Infantile Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Dysphagia, Clumsiness, Poor fine motor coordina...	ORPHA:79263
Holocarboxylase Synthetase Deficiency	Alopecia, Ataxia, Anorexia, Hypotonia, Hyperammonemia, Growth delay, Lethargy	ORPHA:79242
Spinocerebellar Ataxia 12	Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ...	OMIM:604326
Spinocerebellar Ataxia Type 2	Kinetic tremor, Postural tremor, Parkinsonism, Chorea, Gait ataxia, Progressive cerebellar ataxia...	ORPHA:98756
Spastic Paraplegia 26, Autosomal Recessive	Lower limb spasticity, Ataxia, Spastic paraplegia, Babinski sign, Dysmetria, Tip-toe gait, Upper ...	OMIM:609195
Brain Dopamine-Serotonin Vesicular Transport Disease	Axial hypotonia, Dystonia, Oculogyric crisis, Spastic tetraparesis, Ataxia, Tremor, Parkinsonism,...	ORPHA:352649
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Short stature, Ataxia, Postnatal gr...	OMIM:616113
Classic Galactosemia	Speech apraxia, Decreased serum insulin-like growth factor 1, Dystonia, Postural tremor, Ataxia, ...	ORPHA:79239
Neurodevelopmental Disorder With Involuntary Movements	Involuntary movements, Chorea, Dysphagia, Self-injurious behavior, Athetosis, Hyperkinetic moveme...	OMIM:617493
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill...	OMIM:614022
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Erythrokeratodermia Variabilis	Alopecia, Diabetes mellitus, Short stature, Hypermelanotic macule, Abnormal hair morphology, Abno...	ORPHA:317
Spastic Paraplegia, Ataxia, And Mental Retardation	Lower limb spasticity, Ataxia, Spastic paraplegia, Babinski sign, Ankle clonus, Knee clonus, Dyst...	OMIM:607565
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Axial hypotonia, Involuntary movements, Chorea, Hypotonia, Paroxysmal dyskinesia,...	OMIM:606703
Neuroferritinopathy	Resting tremor, Dystonia, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski s...	ORPHA:157846
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Leber Optic Atrophy And Dystonia	Dysphagia, Bradykinesia, Athetosis, Dystonia, Spasticity, Upper motor neuron dysfunction	OMIM:500001
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor, Gait disturbance	OMIM:611808
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Aggressive behavior, Rigidity, Babinski sign, Inappropriate behavior, Disinhibition...	OMIM:600795
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617182
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Alopecia, Hypogonadotropic hypogonadism, Short stature, Melanocytic nevus, Central adrenal insuff...	OMIM:612079
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Goiter, Elevated circulat...	ORPHA:90673
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes mellitus, Ca...	ORPHA:439232
Intellectual Developmental Disorder, Autosomal Recessive 48	Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Self-mutil...	OMIM:616269
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of the skin, Hypopigmentation of hair, Hypogonadotropic hypogonadism, External g...	ORPHA:177910
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Hyperpepsinogenemia I, Cardiomyopathy, B...	OMIM:615745
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Lower limb spasticity, Ataxia, Hypotonia, Truncal ataxia, Gait ataxia, Gait disturbance, Difficul...	OMIM:614458
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Increased serum pyruvate, Ataxia, Spastic paraplegia, Unsteady gait, Spastic tetraplegia, Poor gr...	OMIM:245349
2,4-Dienoyl-Coa Reductase Deficiency	Death in infancy, Incoordination, Ataxia, Clonus, Decreased plasma free carnitine, Hypotonia, Tet...	OMIM:616034
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C...	OMIM:115200
Mitochondrial Complex I Deficiency, Nuclear Type 15	Spastic tetraplegia, Generalized hypotonia, Dystonia, Neonatal death, Intrauterine growth retarda...	OMIM:618237
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Infantile muscular hypotonia, Hypertonia, Dysto...	ORPHA:26792
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Short stature, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Trun...	OMIM:610185
Glutamine Deficiency, Congenital	Hypoglutaminemia, Neonatal death, Bradycardia, Hyperammonemia	OMIM:610015
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic paraparesis	ORPHA:329284
Mepan Syndrome	Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Hypotonia, Dysphagia, Gait disturbance, M...	ORPHA:508093
Spinocerebellar Ataxia 14	Dysmetria, Gait ataxia, Focal dystonia, Progressive cerebellar ataxia, Attention deficit hyperact...	OMIM:605361
Spinocerebellar Ataxia Type 12	Postural tremor, Ataxia, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia, Poor...	ORPHA:98762
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Short stature, Spa...	OMIM:129500
Developmental And Epileptic Encephalopathy 1	Axial hypotonia, Dystonia, Spastic tetraparesis, Abnormal pyramidal sign, Growth delay, Choreoath...	OMIM:308350
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Generalized dystonia, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Hypertoni...	OMIM:618824
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Ataxia, Elevated circulating creatine kinase concentration, Hyperammonemia, Choreoathetosis, Gene...	OMIM:618416
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Short stature, Ataxia, Babinski sign, Spastic diplegia, Myoclonus, Dystonia	OMIM:619065
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Paroxysmal dystonia, Writer's cramp, Hand tremor, Myoclonus	OMIM:608105
Developmental And Epileptic Encephalopathy 16	Severe muscular hypotonia, Hypotonia, Hemiparesis, Abnormality of extrapyramidal motor function, ...	OMIM:615338
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Incoordination, Ataxia, Episodic generalized hypotonia, Hypotonia, Dysphagia, Dysmetria, Gait ata...	OMIM:601338
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy	Spastic ataxia, Dysmetria, Gait ataxia, Spastic dysarthria, Progressive cerebellar ataxia, Dyston...	ORPHA:314603
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop...	OMIM:617222
Ataxia-Telangiectasia	Hypopigmentation of hair, Diabetes mellitus, Short stature, Ataxia, Tremor, Polycystic ovaries, P...	ORPHA:100
Primary Dystonia, Dyt21 Type	Axial dystonia, Paroxysmal dystonia, Torticollis, Generalized dystonia, Limb dystonia, Focal dyst...	ORPHA:306734
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hemiplegia/hemiparesis, Chorea, Hypotonia, Hyperammonemia, Growth delay, Choreoathetosis, Dystoni...	ORPHA:289916
Tremor-Ataxia-Central Hypomyelination Syndrome	Dystonia, Hypogonadotropic hypogonadism, Short stature, Postural tremor, Ataxia, Babinski sign, D...	ORPHA:447896
Cortisone Reductase Deficiency 1	Precocious puberty, Alopecia, Hirsutism	OMIM:604931
Progressive Myoclonic Epilepsy With Dystonia	Abnormal pyramidal sign, Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Dy...	ORPHA:352596
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest	OMIM:618235
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Diabete...	OMIM:241080
Parkinson Disease 14, Autosomal Recessive	Axial dystonia, Resting tremor, Eyelid apraxia, Parkinsonism, Upper limb postural tremor, Aggress...	OMIM:612953
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Spastic Paraplegia 47, Autosomal Recessive	Waddling gait, Short stature, Inability to walk, Spastic paraplegia, Babinski sign, Hypertonia, D...	OMIM:614066
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Pigmentary retinopathy, ...	OMIM:164500
Obesity Due To Prohormone Convertase I Deficiency	Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Gonadotropin...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Gonadotropin...	ORPHA:71526
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair, Generalized dystonia, Ataxia, Abnormal reproductive system morphology, ...	ORPHA:70472
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Hyperactivity, Broad-based gait, Aggressive behavior, Precocious puberty, Abnormality of skin pig...	ORPHA:457260
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cryptorchidism, Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive behav...	OMIM:618917
Raynaud-Claes Syndrome	Lower limb spasticity, Dystonia, Aggressive behavior, Hypotonia, Progressive cerebellar ataxia, G...	OMIM:300114
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti...	OMIM:619725
Hemiparkinsonism-Hemiatrophy Syndrome	Dystonia, Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Difficulty walking, Generalized hypotonia	ORPHA:306669
Timothy Syndrome	Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Hypocalcemia...	OMIM:601005
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal sign, Dysphagia, Ab...	OMIM:617672
Leukodystrophy, Hypomyelinating, 20	Torticollis, Babinski sign, Spastic tetraplegia, Chronic constipation, Hypertonia, Dystonia, Hirs...	OMIM:619071
Mitochondrial Membrane Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Bowel incontinence, Rigidity, Babinski sign, Hand tremor, Dysphagia, Brad...	ORPHA:289560
3-Methylglutaconic Aciduria Type 1	Progressive cerebellar ataxia, Spastic tetraparesis, Dystonia	ORPHA:67046
Filippi Syndrome	Postnatal growth retardation, Cryptorchidism, Sparse hair, Dystonia, Ambiguous genitalia, Intraut...	OMIM:272440
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function...	ORPHA:79262
Mitochondrial Myopathy With Lactic Acidosis	Increased serum pyruvate, Hypotonia, Dysmetria, Tip-toe gait, Dystonia, Spasticity	OMIM:251950
Infantile Convulsions And Choreoathetosis	Involuntary movements, Chorea, Choreoathetosis, Athetosis, Dystonia, Paroxysmal dyskinesia	ORPHA:31709
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Oral-pharyngeal dysphagia, Postnatal growth retardation, Tremor, Synophrys, Spastic diplegia, Lon...	ORPHA:480907
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Autosomal Recessive Spastic Paraplegia Type 26	Lower limb spasticity, Babinski sign, Pseudobulbar paralysis, Gait disturbance, Dystonia, Decreas...	ORPHA:101006
Peroxisomal Acyl-Coa Oxidase Deficiency	Babinski sign, Hypotonia, Dysphagia, Pigmentary retinopathy, Hypertonia, Dystonia, Neonatal hypot...	OMIM:264470
Mitochondrial Complex I Deficiency, Nuclear Type 16	Spastic tetraplegia, Choreoathetosis, Adrenal insufficiency, Generalized hypotonia, Dystonia, Int...	OMIM:618238
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Cerebral palsy, Acute hyperammonemia, Hypotonia, Hyperammonemia, Opisthotonus, Hypergly...	OMIM:210210
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors...	OMIM:128100
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Hyperactivity, Ataxia, Clonus, Elevated circulating creatine ...	OMIM:615673
Epilepsy, Progressive Myoclonic, 6	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking...	OMIM:614018
Cln3 Disease	T-wave inversion, Bradycardia, Increased circulating androgen concentration	ORPHA:228346
Spinocerebellar Ataxia Type 37	Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Falls, Myoclonus, Truncal ataxia...	ORPHA:363710
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Elevated circulating creatine kinase concentration, Tremor, Dysphagia, Myoclonus, Tongue fascicul...	OMIM:159950
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Tetraplegia/tetraparesis, Sparse eyebrow, Rigidity, Unsteady gait, P...	ORPHA:2269
Leukodystrophy, Hypomyelinating, 16	Broad-based gait, Abnormal pyramidal sign, Hypotonia, Dysmetria, Gait ataxia, Choreoathetosis, Hy...	OMIM:617964
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Bradyc...	ORPHA:226313
Juvenile Amyotrophic Lateral Sclerosis	Axial dystonia, Lower limb spasticity, Dystonia, Ataxia, Clonus, Parkinsonism, Head titubation, I...	ORPHA:300605
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Choreoathetosis, Spasticity, Axial hypotonia, Dystonia	OMIM:614249
Flynn-Aird Syndrome	Alopecia, Alopecia of scalp, Ataxia	OMIM:136300
Dihydrolipoamide Dehydrogenase Deficiency	Increased serum pyruvate, Dystonia, Ataxia, Hypotonia, Death in childhood, Lethargy	OMIM:246900
Familial Dyskinesia And Facial Myokymia	Resting tremor, Axial hypotonia, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia	ORPHA:324588
Developmental And Epileptic Encephalopathy 27	Axial hypotonia, Chorea, Hypotonia, Myoclonus, Dystonia, Spasticity	OMIM:616139
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Bradycardia	OMIM:616277
Leukodystrophy, Hypomyelinating, 6	Axial hypotonia, Short stature, Ataxia, Tremor, Rigidity, Hypotonia, Choreoathetosis, Dystonia, O...	OMIM:612438
Aicardi-Goutieres Syndrome 3	Dystonia, Hypotonia, Generalized hypotonia, Death in childhood, Spasticity	OMIM:610329
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Rett Syndrome	Increased serum pyruvate, Dystonia, Limb apraxia, Inability to walk, Hyperammonemia, Bradykinesia...	ORPHA:778
Hyperthyroidism, Familial Gestational	Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ...	OMIM:603373
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia	OMIM:618815
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra...	ORPHA:99750
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Gastroparesis, Parkinsonism, Bowel incontinence, Tremor, Rigidity, Head titubation, Inability to ...	OMIM:618877
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Limb dystonia, Cerebral palsy, Short stature, Clonus, Polyhydramnios, Cryptorchidism, Babinski si...	OMIM:619847
Episodic Kinesigenic Dyskinesia 1	Paroxysmal dystonia, Paroxysmal choreoathetosis	OMIM:128200
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia, Maturity-onset diabetes of the young, Precocious puberty, Postnatal growth ...	ORPHA:254531
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Ataxia, Head titubation, Abnormal pyramidal sign, Generalized hypotonia, Dystonia, Progressive sp...	ORPHA:527497
Pontocerebellar Hypoplasia, Type 14	Death in infancy, Hypotonia, Spastic tetraplegia, Hypertonia, Dystonia	OMIM:619301
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Hyperactivity, Resting tremor, Short stature, Broad-based gait, Anorexia, ...	ORPHA:3077
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Short stature, Ataxia, Tremor, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, ...	OMIM:213200
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Nail dystrophy, Nail pits	OMIM:601705
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Hypohidrosis, Abno...	ORPHA:248
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Inability to walk, Spastic tetraplegia, Dystonia	OMIM:618646
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Impulsivity, Akinesia, Tremor, Neuromuscular dysphagia, Abnormal py...	ORPHA:240071
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anorexia, Hypotonia, Dehydration, Hyperammonemia, Choreoathetosis, Dystonia, Lethargy, Pancreatitis	ORPHA:79312
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia, Ataxia, Bowel incontinence, Rigidity, Gait apraxia, Abnormal pyramidal sign, Babinski s...	OMIM:600142
Spinocerebellar Ataxia Type 6	Incoordination, Unsteady gait, Babinski sign, Dysphagia, Gait ataxia, Blepharospasm, Progressive ...	ORPHA:98758
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Ane Syndrome	Decreased serum insulin-like growth factor 1, Alopecia, Hypogonadotropic hypogonadism, Anterior p...	ORPHA:157954
Mitochondrial Complex Ii Deficiency, Nuclear Type 4	Increased serum pyruvate, Axial hypotonia, Ataxia, Hypotonia, Falls, Generalized hypotonia, Dysto...	OMIM:619224
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Limb fasciculation...	ORPHA:90117
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Hyperactivity, Tremor, Rigidity, Inability to walk, Hypotonia, Dysmetria, Gait ataxia, Gait distu...	OMIM:618090
Choreoacanthocytosis	Self-mutilation of tongue and lips due to involuntary movements, Dystonia, Parkinsonism, Elevated...	OMIM:200150
Temple Syndrome	Few cafe-au-lait spots, Short stature, Decreased response to growth hormone stimulation test, Pre...	ORPHA:254516
Keratoderma Hereditarium Mutilans	Alopecia, Hypogonadotropic hypogonadism, Self-injurious behavior, Abnormal toenail morphology, Ab...	ORPHA:494
Spinocerebellar Ataxia Type 1	Postural tremor, Chorea, Slurred speech, Dysmetria, Dysphagia, Bradykinesia, Progressive cerebell...	ORPHA:98755
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Tremor, Abnormal pyramidal sign, Hypotonia, Progressive cerebellar ataxia, Myoclonus, Dystonia	ORPHA:139485
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Tachycardia, Hyperinsulinemia, Decreased circulating free fatty acid level, Syncope, Type I diabe...	ORPHA:276575
Cronkhite-Canada Syndrome	Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Anorexia, Lymphedema, Hy...	ORPHA:2930
Bilateral Generalized Polymicrogyria	Axial hypotonia, Short stature, Oculogyric crisis, Oral-pharyngeal dysphagia, Spastic tetraplegia...	ORPHA:208447
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
Allan-Herndon-Dudley Syndrome	Axial hypotonia, Short stature, Abnormality of thyroid physiology, Polyhydramnios, Ataxia, Crypto...	ORPHA:59
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Oculomotor apraxia, T...	OMIM:208920
Johanson-Blizzard Syndrome	Death in infancy, Hypoplasia of penis, Diabetes mellitus, Hypospadias, Alopecia, Abnormal hair pa...	ORPHA:2315
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Dystonia, Hypogonadotropic hypogonadism, Short stature, Ataxia, Tremor, Abnormal pyramidal sign, ...	OMIM:614381
Spastic Ataxia 5, Autosomal Recessive	Spastic ataxia, Dystonia, Ataxia, Dysmetria, Dysphagia, Dysdiadochokinesis, Myoclonus, Spastic pa...	OMIM:614487
Aicardi-Goutieres Syndrome 6	Tremor, Rigidity, Dystonia, Loss of ambulation, Intrauterine growth retardation	OMIM:615010
Tonne-Kalscheuer Syndrome	Broad-based gait, Hypospadias, Short stature, Concave nail, Aggressive behavior, Cryptorchidism, ...	OMIM:300978
Pyruvate Dehydrogenase E1-Alpha Deficiency	Hyperalaninemia, Increased serum pyruvate, Tremor, Hypotonia, Choreoathetosis, Myoclonus, General...	OMIM:312170
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Alopecia, Streak ovary, Hypoplasia of the fallopian t...	ORPHA:3464
Developmental And Epileptic Encephalopathy 44	Axial hypotonia, Short stature, Athetosis, Gastroesophageal reflux, Dystonia, Spasticity	OMIM:617132
Mitochondrial Complex I Deficiency, Nuclear Type 5	Axial hypotonia, Dystonia, Ataxia, Babinski sign, Hypotonia, Growth delay, Vomiting, Generalized ...	OMIM:618226
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Alpha-Heavy Chain Disease	Growth delay, Alopecia, Ascites, Hypocalcemia	ORPHA:100025
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia, Severe short stature, Rhizomelia, Elevated circulating phytanic acid concentration, Spa...	OMIM:215100
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Lower limb spasticity, Axial hypotonia, Short stature, Absent pubertal growth spur...	ORPHA:464282
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tandem gait, Myoclonus, O...	OMIM:619028
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Neonatal hyperbilirubinemia, Pituitary hypothyroidis...	ORPHA:90674
Developmental And Epileptic Encephalopathy 6B	Axial hypotonia, Ataxia, Inability to walk, Chorea, Hypotonia, Choreoathetosis, Hyperkinetic move...	OMIM:619317
Huntington Disease-Like 2	Rigidity, Chorea, Bradykinesia, Dystonia, Action tremor	OMIM:606438
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia, Stepp...	OMIM:618387
Classic Phenylketonuria	Hypopigmentation of hair, Tremor, Paraplegia, Growth delay, Self-injurious behavior, Hypertonia, ...	ORPHA:79254
Pelizaeus-Merzbacher Disease	Broad-based gait, Generalized dystonia, Short stature, Writer's cramp, Dystonia, Ataxia, Tremor, ...	OMIM:312080
Primary Dystonia, Dyt6 Type	Limb dystonia, Torticollis, Generalized dystonia, Blepharospasm, Dystonia, Lingual dystonia, Lary...	ORPHA:98806
Spinocerebellar Ataxia With Epilepsy	Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys...	ORPHA:254881
Glut1 Deficiency Syndrome 2	Ataxia, Tremor, Choreoathetosis, Dystonia, Reduced haptoglobin level	OMIM:612126
Congenital Arthrogryposis With Anterior Horn Cell Disease	Dystonia, Inability to walk, Cryptorchidism, Difficulty walking, Generalized hypotonia, Neonatal ...	OMIM:611890
Spinocerebellar Ataxia Type 17	Torticollis, Ataxia, Writer's cramp, Parkinsonism, Involuntary movements, Rigidity, Chorea, Abnor...	ORPHA:98759
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation, Hypospadias, Short stature	ORPHA:1355
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test...	ORPHA:98793
Episodic Ataxia, Type 9	Episodic ataxia, Vomiting, Dystonia	OMIM:618924
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Dystonia, Episodic ataxia, Paroxysm...	ORPHA:53583
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Ataxia, Head titubation, Hypotonia, Dysmetria, Truncal ataxia, Aminoaciduria, Myoclonus, Dystonia...	OMIM:250620
X-Linked Creatine Transporter Deficiency	Hyperactivity, Short stature, Ataxia, Abnormal circulating creatine concentration, Chorea, Ileus,...	ORPHA:52503
Developmental And Epileptic Encephalopathy 64	Paroxysmal dystonia, Dystonia, Highly arched eyebrow, Sparse eyebrow, Inability to walk, Chorea, ...	OMIM:618004
Autosomal Dominant Dopa-Responsive Dystonia	Torticollis, Generalized dystonia, Postural tremor, Ataxia, Parkinsonism, Rigidity, Babinski sign...	ORPHA:98808
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test...	ORPHA:98754
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt...	OMIM:614470
Baralle-Macken Syndrome	Inability to walk, Dystonia, Neonatal hypotonia, Spasticity, Cafe-au-lait spot, Hirsutism	OMIM:619255
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Intellectual Developmental Disorder, Autosomal Dominant 56	Lower limb spasticity, Broad-based gait, Ataxia, Impulsivity, Inability to walk, Paraparesis, Oro...	OMIM:617854
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Broad-based gait, Aggressive behavior, Hypotonia, Attention deficit hyperactivity disorder, Dystonia	OMIM:619157
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Short stature, Tremor, Growth delay, Decreased serum creatinine, Intrauterine growth retardation,...	OMIM:617744
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test...	ORPHA:177904
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,...	ORPHA:90793
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Diabetes mellitus, Abnormality of the thyroid gland, Cardiomyopathy, Hypogonadism, Bradycardia, A...	OMIM:609286
Autoimmune Polyendocrinopathy Type 2	Hypoparathyroidism, Alopecia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hy...	ORPHA:3143
Christianson Syndrome	Death in early adulthood, Dystonia, Truncal ataxia, Gait ataxia, Gastroesophageal reflux, Inappro...	ORPHA:85278
Pontocerebellar Hypoplasia, Type 15	Death in infancy, Hypotonia, Spastic tetraplegia, Hypertonia, Dystonia	OMIM:619302
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test...	ORPHA:177901
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ...	OMIM:613239
Satoyoshi Syndrome	Alopecia, Short stature, Diarrhea, Hypoplasia of the uterus, Mildly elevated creatine kinase, Alo...	OMIM:600705
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys...	ORPHA:2325
Combined Oxidative Phosphorylation Deficiency 32	Death in infancy, Dystonia, Tremor, Inability to walk, Hypotonia, Choreoathetosis, Constipation, ...	OMIM:617664
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Cryptorchidism, Inability to walk, Gastroesophageal reflux, Dystonia, Infantile muscular hypotoni...	ORPHA:457205
Sim1-Related Prader-Willi-Like Syndrome	Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche...	ORPHA:398079
Mitochondrial Complex I Deficiency, Nuclear Type 33	Axial hypotonia, Hypospadias, Loss of ambulation, Hyperammonemia, Generalized hypotonia, Dysphagi...	OMIM:618253
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, St...	OMIM:613280
Leukodystrophy, Hypomyelinating, 15	Severe short stature, Ataxia, Abnormal pyramidal sign, Dysphagia, Athetosis, Dystonia, Loss of am...	OMIM:617951
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
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
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of the skin, Hyperactivity, Hypopigmentation of hair, Ataxia, Broad-based gait, ...	ORPHA:411515
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation, Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, A...	ORPHA:96
Neurodegeneration With Brain Iron Accumulation 8	Ataxia, Tremor, Unsteady gait, Hypotonia, Dysmetria, Loss of ambulation	OMIM:617917
Mohr-Tranebjaerg Syndrome	Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign...	ORPHA:52368
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, Tremor, Inability to walk, Clumsiness, Eyelid myoclonus, Myoclonus, Difficulty wal...	ORPHA:2590
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, External genital hypoplasia, Short stature, Cryptorch...	ORPHA:1867
Manganese Poisoning	Postural tremor, Akinesia, Aggressive behavior, Hypersexuality, Cogwheel rigidity, Bradykinesia, ...	ORPHA:306682
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Lower limb spasticity, Ataxia, Spastic tetraparesis, Spastic paraplegia, Babinski sign, Dysmetria...	OMIM:612319
Spinocerebellar Ataxia 21	Postural tremor, Ataxia, Impulsivity, Aggressive behavior, Akinesia, Parkinsonism, Limb ataxia, C...	OMIM:607454
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Short stature, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyram...	ORPHA:397946
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tremor, Hyperinsulinemia, Hyperhidrosis, Agitation, Pancreatic islet-cell hyperplasia, Hyperinsul...	ORPHA:276608
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Elevated circulating creatine kinase concentration, Tremor, Fasciculations, Dysphagia, Testicular...	OMIM:313200
Mitochondrial Complex I Deficiency, Nuclear Type 8	Axial dystonia, Dysphagia, Tetraparesis, Generalized hypotonia, Dystonia, Pancreatitis	OMIM:618230
Pelizaeus-Merzbacher Disease, Classic Form	Axial hypotonia, Ataxia, Spastic tetraparesis, Dystonic gait, Hypotonia, Abnormal pyramidal sign,...	ORPHA:280219
Gomez-Lopez-Hernandez Syndrome	Hyperactivity, Alopecia, Short stature, Decreased response to growth hormone stimulation test, At...	OMIM:601853
Isolated Atp Synthase Deficiency	Hyperalaninemia, Short stature, Ataxia, Spastic paraplegia, Hypotonia, Tetraplegia, Hyperammonemi...	ORPHA:254913
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy...	ORPHA:240094
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Precocious puberty, Fine hair, Woolly scalp hair, Co...	ORPHA:79414
Pontocerebellar Hypoplasia, Type 2B	Death in infancy, Axial hypotonia, Dystonia, Clonus, Polyhydramnios, Chorea, Babinski sign, Hypot...	OMIM:612389
Adrenal Hypoplasia, Congenital	Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl...	OMIM:300200
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Tachycardia, Maternal diabetes, Hyperinsulinemia, Syncope, Type I diabetes mellitus, Palpitations...	ORPHA:276580
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Chorea, Elevated circulating thyroid-stimulating hormone concentration, Abnor...	ORPHA:209905
Leukoencephalopathy, Progressive, With Ovarian Failure	Ataxia, Babinski sign, Hand tremor, Dystonia, Spasticity, Apraxia	OMIM:615889
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Dystonia, Ataxia, Dysphagia, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, Myoclonus, Spasti...	ORPHA:313772
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Increased serum pyruvate, Death in infancy, Axial hypotonia, Spastic tetraparesis, Hypotonia, Dys...	OMIM:617668
Leukodystrophy, Hypomyelinating, 9	Lower limb spasticity, Axial hypotonia, Ataxia, Babinski sign, Dysmetria, Pseudobulbar paralysis,...	OMIM:616140
Bjornstad Syndrome	Anhidrosis, Alopecia, Brittle hair, Dry hair, Coarse hair, Hypogonadism, Hair shafts flattened at...	OMIM:262000
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Severe postnatal growth retardation, Alopecia, Severe short stature	OMIM:203550
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Nail dystrophy	OMIM:616487
Aceruloplasminemia	Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Elevated hepatic ...	ORPHA:48818
Pontocerebellar Hypoplasia, Type 2C	Chorea, Dystonia	OMIM:612390
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Methylmalonic acidemia, Short stature, Loss of ability to walk in early childhood, Elevated circu...	OMIM:612073
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Thyroid agenesis, Elevated circulating thyroid-stimula...	OMIM:218700
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns...	OMIM:619405
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Short stature, Postnatal growth retardation, Abnormal fear-induced ...	ORPHA:309246
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Lower limb spasticity, Ataxia, Dysmetria, Pseudobulbar paralysis, Lower limb hypertonia, Vomiting...	ORPHA:438114
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Short stature, Ataxia, Tremor, Paronychia, Diarrhea, Decreased serum zinc, Hypogonadism, Lethargy...	OMIM:201100
Porphyria Cutanea Tarda	Facial hypertrichosis, Alopecia, Hyperpigmentation in sun-exposed areas, Onycholysis	OMIM:176100
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Hypotonia, Growth delay, Choreoathetosis...	ORPHA:765
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Postnatal growth retardation, Hyperkalemia, Abnormal circu...	ORPHA:556037
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Short stature, Partial albinism	ORPHA:90023
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Dystonia, Progressive extrapyramidal muscular rigidity, Parkinsonism, Chorea, Bab...	ORPHA:225147
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis	Paroxysmal dystonia, Paroxysmal choreoathetosis	OMIM:602066
Familial Peripheral Male-Limited Precocious Puberty	Precocious puberty, Abnormal hair morphology, Long penis, Oligozoospermia, Attention deficit hype...	ORPHA:3000
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Björnstad Syndrome	Alopecia, Brittle hair, Hypogonadism	ORPHA:123
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Axial hypotonia, Generalized dystonia, Parkinsonism, Spastic tetraparesis, Inability to walk, Opi...	OMIM:619653
Developmental And Epileptic Encephalopathy 17	Inability to walk, Athetosis, Chorea, Dystonia	OMIM:615473
Multiple System Atrophy, Cerebellar Type	Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Neurom...	ORPHA:227510
Hemochromatosis, Type 1	Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Increased circulating ferritin concen...	OMIM:235200
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Athetosis, Dystonia, Paralysis, Dysphagia	OMIM:300857
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Growth delay, Bradycardia, Atrioventricular block	OMIM:614407
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Short stature, Ataxia, Babinski sign, Truncal ataxia, Pigmentary retinopathy, Myoclonus, Dystonia...	OMIM:252011
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 7	Hypotonia, Dystonia	OMIM:620359
Leukodystrophy, Hypomyelinating, 25	Growth delay, Gait ataxia, Hypotonia, Dystonia	OMIM:620243
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Axial hypotonia, Ataxia, Inability to walk, Oculomotor apraxia, Dysmetria, Dystonia, Sparse hair,...	OMIM:618087
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Precocious puberty, Postnatal growth retardation, Hypotonia, Poor fine motor coordination, Neonat...	ORPHA:254525
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Spastic ataxia, Generalized dystonia, Cerebral palsy, Hyperglutamatemia, Spastic tetraparesis, Pa...	OMIM:620358
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Ataxia, Hypotonia, Constipation, Myoclonus, Dystonia, Spasticity	OMIM:620094
Primary Dystonia, Dyt4 Type	Torticollis, Generalized dystonia, Involuntary movements, Upper limb postural tremor, Blepharospa...	ORPHA:98805
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ataxia, Clonus, Premature thelarche, Oral-pharyngeal dysphagia, Elevated circulating creatine kin...	OMIM:616878
Hyperinsulinism Due To Hnf1A Deficiency	Tachycardia, Maternal diabetes, Maturity-onset diabetes of the young, Hyperinsulinemia, Decreased...	ORPHA:324575
Multiple Mitochondrial Dysfunctions Syndrome 6	Ataxia, Inability to walk, Hypotonia, Dysmetria, Dystonia, Spasticity	OMIM:617954
Pure Autonomic Failure	Orthostatic hypotension, Syncope, Abnormality of circulating catecholamine level	ORPHA:441
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elevated circulati...	OMIM:613327
Hyperinsulinism Due To Ucp2 Deficiency	Tachycardia, Decreased circulating free fatty acid level, Syncope, Palpitations, Hyperinsulinemic...	ORPHA:276556
Dystonia 9	Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Dystonia, Episodic ataxia	OMIM:601042
Lesch-Nyhan Syndrome	Dystonia, Short stature, Hypotonia, Opisthotonus, Choreoathetosis, Self-injurious behavior, Vomit...	OMIM:300322
Spinocerebellar Ataxia Type 14	Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Generalized...	ORPHA:98763
Tetanus	Hypertension, Tachycardia, Bradycardia, Elevated circulating creatine kinase concentration	ORPHA:3299
Hijazi-Reis Syndrome	Lower limb spasticity, Postnatal growth retardation, Hypotonia, Ankle clonus, Chronic constipatio...	OMIM:301094
Mucolipidosis Iv	Babinski sign, Hypotonia, Spastic tetraplegia, Hypergastrinemia, Generalized hypotonia, Dystonia	OMIM:252650
Neurodegeneration With Brain Iron Accumulation 4	Generalized dystonia, Ataxia, Parkinsonism, Impulsivity, Elevated circulating creatine kinase con...	OMIM:614298
Peroxisome Biogenesis Disorder 5B	Ataxia, Tremor, Oculomotor apraxia, Unsteady gait, Elevated circulating phytanic acid concentrati...	OMIM:614867
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the ut...	ORPHA:2232
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lymphedema, Palpebral edema...	ORPHA:69735
Autosomal Recessive Spastic Paraplegia Type 77	Paroxysmal dystonia, Lower limb spasticity, Axial hypotonia, Weakness due to upper motor neuron d...	ORPHA:466722
Dystonia 34, Myoclonic	Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia	OMIM:619724
Developmental And Epileptic Encephalopathy 67	Athetosis, Recurrent hand flapping, Gait disturbance, Dystonia	OMIM:618141
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Adult-Onset Cervical Dystonia, Dyt23 Type	Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Myoclonu...	ORPHA:420492
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy	Torticollis, Head titubation, Abnormal pyramidal sign, Hypotonia, Truncal ataxia, Limb ataxia, Li...	OMIM:617560
Myopathy, Mitochondrial, And Ataxia	Hyperthyroidism, Short stature, Thick hair, Ataxia, Elevated circulating creatine kinase concentr...	OMIM:617675
Hengel-Maroofian-Schols Syndrome	Short stature, Inability to walk, Synophrys, Upper motor neuron dysfunction, Hypotonia, Tetrapleg...	OMIM:619641
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Anorexia, Hypomagnesemia, Diarrhea, Xerostomia, Hematochezia, Hypokalemia, Vomiting, Na...	OMIM:175500
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Ambiguous genitalia, female, Dehydration, Ambiguous genital...	ORPHA:90791
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia	ORPHA:542306
Pyruvate Dehydrogenase E2 Deficiency	Paroxysmal dystonia, Generalized dystonia, Ataxia, Oculomotor apraxia, Hypotonia, Choreoathetosis...	OMIM:245348
Radio-Tartaglia Syndrome	Tremor, Synophrys, Low anterior hairline, Gastroesophageal reflux, Abnormal repetitive mannerisms...	OMIM:619312
Leukoencephalopathy, Cystic, Without Megalencephaly	Athetosis, Spasticity, Ataxia, Dystonia	OMIM:612951
Hsd10 Disease, Infantile Type	Restlessness, Dystonia, Spastic tetraparesis, Poor coordination, Hypotonia, Spastic diplegia, Hyp...	ORPHA:391428
Spinocerebellar Ataxia 28	Parkinsonism, Babinski sign, Limb ataxia, Gait ataxia, Lower limb hypertonia, Dystonia, Spasticity	OMIM:610246
Nicolaides-Baraitser Syndrome	Alopecia, Severe short stature, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, Cr...	ORPHA:3051
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Gastrointestinal hemorrhage, Ataxia, Premature graying of hair, Growth delay, Dystonia, Intrauter...	OMIM:617341
Leukodystrophy, Hypomyelinating, 18	Babinski sign, Spastic tetraplegia, Dysmetria, Progressive spasticity, Dystonia, Spasticity	OMIM:618404
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen...	ORPHA:2890
Inverted Duplicated Chromosome 15 Syndrome	Hyperactivity, Aggressive behavior, Precocious puberty, Cryptorchidism, Synophrys, Self-biting, G...	ORPHA:3306
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Axial hypotonia, Exaggerated startle response, Oculogyric crisis, Diarrhea, Tongue t...	OMIM:608643
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Sparse eyebrow, Hypotonia, Self-injurious behavior, Generalized hypotonia, Dystonia, Recurrent ha...	OMIM:617268
Magel2-Related Prader-Willi-Like Syndrome	Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Gastroesophageal ref...	ORPHA:398069
Combined Oxidative Phosphorylation Deficiency 13	Axial hypotonia, Severe muscular hypotonia, Growth delay, Choreoathetosis, Dystonia	OMIM:614932
Myoclonic-Atonic Epilepsy	Ataxia, Tremor, Hypotonia, Eyelid myoclonus, Attention deficit hyperactivity disorder	OMIM:616421
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Methylmalonic acidemia, Axial hypotonia, Dehydration, Vomiting, Dystonia, ...	ORPHA:289504
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair, Short stature, Hypotonia, Intrauterine growth retardation, Hyperpigmentat...	ORPHA:50812
Propionic Acidemia	Axial hypotonia, Short stature, Hyperglycinuria, Dehydration, Hyperammonemia, Constipation, Vomit...	OMIM:606054
Cerebral Creatine Deficiency Syndrome 1	Speech apraxia, Broad-based gait, Axial hypotonia, Short stature, Aggressive behavior, Ileus, Hyp...	OMIM:300352
Central Precocious Puberty In Male	Abnormality of the testis size, Aggressive behavior, Pituitary microadenoma, Abnormality of secon...	ORPHA:649929
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Pituitary dwarfism, Hyp...	ORPHA:226307
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Axial hypotonia, Severe temper tantrums, Ataxia, Aggressive behavior, Tremor, Spastic tetraplegia...	OMIM:617710
Leukodystrophy, Hypomyelinating, 2	Axial hypotonia, Dystonia, Ataxia, Rigidity, Head titubation, Babinski sign, Choreoathetosis, Pro...	OMIM:608804
Spinocerebellar Ataxia 18	Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Huntington Disease-Like 3	Broad-based gait, Extrapyramidal muscular rigidity, Bowel incontinence, Chorea, Abnormal pyramida...	ORPHA:157946
Behr Syndrome	Ataxia, Tremor, Unsteady gait, Babinski sign, Truncal ataxia, Dysmetria, Chronic constipation, Ga...	OMIM:210000
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Postnatal growth retardation, Hyperkalemia, Abnormal circu...	ORPHA:556030
Huntington Disease-Like 3	Ataxia, Bowel incontinence, Chorea, Unsteady gait, Abnormal pyramidal sign, Abnormality of extrap...	OMIM:604802
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia, Dysphagia	OMIM:618637
Monosomy 18P	Alopecia, Generalized dystonia, Short stature, Lymphedema, Hypotonia, Low posterior hairline, Hyp...	ORPHA:1598
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic pa...	OMIM:300894
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop...	ORPHA:330001
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Inability to walk, Hypotonia, Hyperammonemia, Abnormality of extrapyramidal motor function, Gener...	OMIM:614739
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Trichothiodystrophy 8, Nonphotosensitive	Sparse eyebrow, Trichorrhexis nodosa, Head titubation, Babinski sign, Spastic diplegia, Ankle clo...	OMIM:619691
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Broad-based gait, Brittle hair, Hypospadias, Short stature, Dystonia, Poor coordination, Abnormal...	OMIM:618891
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Spasticity, Abnormal ...	OMIM:618718
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Elevated circulating creatine kinase concentration, Gait disturbance, Tetraparesis, Dystonia, Los...	OMIM:167320
Riboflavin Transporter Deficiency	Ataxia, Aggressive behavior, Tremor, Hypotonia, Hypogonadism, Myoclonus, Dysphagia, Diabetes insi...	ORPHA:97229
Spinocerebellar Ataxia, Autosomal Recessive 13	Axial hypotonia, Short stature, Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysme...	OMIM:614831
Illum Syndrome	Calcinosis, Bradycardia	OMIM:208155
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Parkinsonism, Elevated circulating creatine kinase concentration, Rigidity, Babinski sign, Trunca...	OMIM:258450
Sheehan Syndrome	Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, Reduced circulating ...	ORPHA:91355
Birk-Landau-Perez Syndrome	Axial hypotonia, Facial hypotonia, Hyperkalemia, Limb ataxia, Increased circulating creatine kina...	OMIM:617595
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Axial hypotonia, Ataxia, Involuntary movements, Choreoathetosis, Dystonia, Spasticity, Limb hyper...	OMIM:615905
Obesity And Hypopigmentation	Red hair, Hyperinsulinemia, Polyphagia	OMIM:620195
Friedreich Ataxia	Diabetes mellitus, Inability to walk, Chorea, Babinski sign, Dysphagia, Dysmetria, Gait ataxia, L...	ORPHA:95
Ataxia-Telangiectasia-Like Disorder 1	Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Choreoat...	OMIM:604391
Congenital Disorder Of Glycosylation, Type Ih	Death in infancy, Edema, Cryptorchidism, Diarrhea, Elevated circulating creatinine concentration,...	OMIM:608104
Holocarboxylase Synthetase Deficiency	Alopecia, Hypotonia, Hyperammonemia, Hypertonia, Vomiting, Generalized hypotonia, Lethargy	OMIM:253270
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Dysphagia, Focal dystonia, Bradykinesia, Clumsiness, Progressiv...	ORPHA:199351
Continuous Spikes And Waves During Sleep	Speech apraxia, Aggressive behavior, Clumsiness, Hyperkinetic movements, Dystonia	ORPHA:725
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Spastic hemiparesis, Low anterior hairline, Hypotonia, Spastic tetraplegia, Dystonia, Spasticity	OMIM:619616
Non-Specific Early-Onset Epileptic Encephalopathy	Short stature, Ataxia, Impulsivity, Abnormality of coordination, Tremor, Rigidity, Involuntary mo...	ORPHA:442835
Oculopharyngodistal Myopathy 3	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Pigmentary retinopathy, Dysph...	OMIM:619473
3-Methylglutaconic Aciduria, Type I	Ataxia, Spastic tetraplegia, Athetosis, Dystonia, Spasticity, Self-mutilation	OMIM:250950
Ichthyosis, Congenital, Autosomal Recessive 2	Anhidrosis, Alopecia, Thin nail, External genital hypoplasia, Paralysis, Abnormal hair morphology...	OMIM:242100
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Alopecia, Atrophic gastritis, Female hypogonadism, Decreased circulating para...	OMIM:240300
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Machado-Joseph Disease	Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babinski sign, Truncal ataxia, Dys...	OMIM:109150
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hyperactivity, Hypopigmentation of hair, Ataxia, Broad-based gait, Abnormal eating behavior, Trem...	ORPHA:98794
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Short stature, Onychauxis, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, H...	OMIM:262190
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Diabetes mellitus, Hypospadias, Severe short stature, Gr...	ORPHA:3242
Prader-Willi Syndrome	Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test...	ORPHA:739
D-Glyceric Aciduria	Growth delay, Aminoaciduria, Nonketotic hyperglycinemia, Bradycardia	OMIM:220120
Ataxia-Telangiectasia	Diabetes mellitus, Female hypogonadism, Short stature, Dystonia, Ataxia, Abnormal hair morphology...	OMIM:208900
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Brittle hair, Sparse eyelashes, Sparse eyebrow, Tremor...	OMIM:617988
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Elevated circulating creatine kinase concentration, Bradycardia, In...	OMIM:618775
Alzheimer Disease 3	Spastic tetraparesis, Babinski sign, Dysphagia, Gait disturbance, Myoclonus, Abnormality of extra...	OMIM:607822
Rabson-Mendenhall Syndrome	Onychauxis, Fasting hyperinsulinemia, Low anterior hairline, Premature graying of hair, Hypothyro...	ORPHA:769
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Cryptorchidism, Chorea, Generalized hypotonia, Dystonia, Spasticity, Hypothyroidism	OMIM:613970
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Primary adrena...	ORPHA:3453
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Decreased serum insulin-like growth factor 1, Short stature, Postnatal growth retardation, Thyroi...	OMIM:618985
Progeria-Short Stature-Pigmented Nevi Syndrome	Decreased serum testosterone concentration, Alopecia, Broad-based gait, Hypergonadotropic hypogon...	ORPHA:2959
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Babinski sign, Spastic gait	OMIM:600363
Alopecia-Intellectual Disability Syndrome 4	Alopecia, Hypospadias, Bilateral cryptorchidism, Agitation, Micropenis	OMIM:618840
Tay-Sachs Disease	Exaggerated startle response, Dystonia, Incoordination, Frequent falls, Increased serum beta-hexo...	ORPHA:845
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Short stature, Aggressive behavior, Cryptorchidism, Patchy alopecia, Multiple cafe-au-lait spots,...	ORPHA:85279
Dystonia 7, Torsion	Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu...	OMIM:602124
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Decreased circulating c...	ORPHA:361
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Inappropriate behavior, Disinhibition, Dy...	OMIM:168605
Multiple System Atrophy	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:102
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ...	OMIM:619747
Fibrodysplasia Ossificans Progressiva	Alopecia	ORPHA:337
Cataract-Ataxia-Deafness Syndrome	Tremor, Hypertonia, Short stature, Ataxia	ORPHA:1368
Oromandibular Dystonia	Torticollis, Generalized dystonia, Bruxism, Dysphagia, Blepharospasm, Hyperkinetic movements, Lim...	ORPHA:93958
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Pontocerebellar Hypoplasia, Type 9	Axial hypotonia, Facial hypotonia, Clonus, Dysphagia, Hypertonia, Dystonia, Spasticity	OMIM:615809
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Polyhydramnios, Bowel incon...	ORPHA:496641
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, Tip-toe gait, Gait di...	OMIM:302800
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Dysphagia,...	OMIM:616795
Flynn-Aird Syndrome	Alopecia, Ataxia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diabet...	ORPHA:2047
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia, Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Short stature, Abnormality of the anterior pituitary, Hypotonia, Coarse h...	ORPHA:75389
Parkinson Disease, Late-Onset	Resting tremor, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Constipation, Dysphagia, ...	OMIM:168600
Mohr-Tranebjaerg Syndrome	Tremor, Spasticity, Dystonia, Dysphagia	OMIM:304700
Classic Mycosis Fungoides	Alopecia, Edema, Hypopigmented skin patches, Irregular hyperpigmentation, Abnormality of the nail	ORPHA:2584
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Elevated circulating creatine kinase concentration, Sinus bradycardia, Second degree atrioventric...	OMIM:616812
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Severe short stature, Absent eyelashes, Hypohidrosis, Multiple cafe-au-...	ORPHA:2316
Bresek Syndrome	Alopecia, Cryptorchidism, Growth delay, Neonatal death, Intrauterine growth retardation, Decrease...	ORPHA:85284
Hyperlysinemia	Tremor, Dysmetria, Opisthotonus, Cystinuria, Gastroesophageal reflux, Vomiting, Hyperactivity, Sh...	ORPHA:2203
Spinocerebellar Ataxia Type 27	Akinesia, Aggressive behavior, Tremor, Hand tremor, Gait ataxia, Limb ataxia, Gait disturbance, D...	ORPHA:98764
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Short stature, Decreased response to growth hormone stimulation test, Tremor, Self-mutilation, Hy...	ORPHA:457240
Syngap1-Related Developmental And Epileptic Encephalopathy	Hypospadias, Ataxia, Abnormal eating behavior, Tremor, Poor coordination, Hypotonia, Gait disturb...	ORPHA:544254
Mandibuloacral Dysplasia	Alopecia, Hypertriglyceridemia, Increased circulating free fatty acid level, Postnatal growth ret...	ORPHA:2457
Angelman Syndrome	Tremor, Gastroesophageal reflux, Vomiting, Hypopigmentation of the skin, Iris hypopigmentation, H...	ORPHA:72
Pantothenate Kinase-Associated Neurodegeneration	Limb dystonia, Dystonia, Abetalipoproteinemia, Parkinsonism, Impulsivity, Rigidity, Slurred speec...	ORPHA:157850
Alstrom Syndrome	Decreased HDL cholesterol concentration, Alopecia, Hypertriglyceridemia, Hypergonadotropic hypogo...	OMIM:203800
Intellectual Developmental Disorder, Autosomal Dominant 43	Hyperactivity, Ataxia, Impulsivity, Aggressive behavior, Synophrys, Hypotonia, Chronic constipati...	OMIM:616977
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Hyperactivity, Broad-based gait, Aggressive behavior, Precocious puberty, Hypotonia, Spasticity	OMIM:300958
Mogs-Cdg	Alopecia, Pulmonary edema, Dystonia, External genital hypoplasia, Edema, Polyhydramnios, Hydrocel...	ORPHA:79330
Gaucher Disease Type 2	Spasticity, Dystonia, Dysphagia	ORPHA:77260
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, I...	ORPHA:411511
Progressive Supranuclear Palsy	Dystonia, Impulsivity, Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dysph...	ORPHA:683
Dystonia 2, Torsion, Autosomal Recessive	Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia	OMIM:224500
Dilated Cardiomyopathy With Ataxia	Lower limb spasticity, Hypoplasia of penis, Elevated circulating glutaric acid concentration, Ata...	ORPHA:66634
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Leigh Syndrome	Hyperalaninemia, Alopecia, Dystonia, Ataxia, Involuntary movements, Chorea, Upper motor neuron dy...	ORPHA:506
Spinocerebellar Ataxia Type 3	Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma...	ORPHA:98757
Multiple System Atrophy, Parkinsonian Type	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:98933
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Small scrotum, Cryptorchidism, Fine hair, Hypogonadism, Intrauterine growth retardation...	ORPHA:228390
Glutathionuria	Tremor, Dysdiadochokinesis, Constipation, Glutathionuria, Action tremor	OMIM:231950
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Polyhydramnios, Aggressive behavio...	ORPHA:544488
Prader-Willi Syndrome	Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test...	OMIM:176270
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Dysphagia, Bradykinesia, Gait disturbance, Shuffling gait...	OMIM:168601
Adams-Oliver Syndrome 2	Alopecia, Axial hypotonia, Low anterior hairline, Oligohydramnios, Hypotonia, Small nail, Limb hy...	OMIM:614219
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Premature graying of hair, Heterochromia iridis, Tremor	ORPHA:66633
Cln5 Disease	Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, Tremor, Inability to...	ORPHA:228360
Postencephalitic Parkinsonism	Resting tremor, Oculogyric crisis, Akinesia, Involuntary movements, Rigidity, Babinski sign, Abno...	ORPHA:97349
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Dysphagia, Bradykinesia, G...	OMIM:615530
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Hyperpigmentati...	OMIM:104100
Classic Pantothenate Kinase-Associated Neurodegeneration	Generalized dystonia, Inability to walk, Opisthotonus, Pigmentary retinopathy, Tip-toe gait, Gait...	ORPHA:216866
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Neuromuscular dysphagia, Spastic diplegia...	ORPHA:206443
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity	ORPHA:542310
Congenital Myopathy 22A, Classic	Neonatal death, Tricuspid regurgitation, Bradycardia, Mildly elevated creatine kinase	OMIM:620351
Young-Onset Parkinson Disease	Restless legs, Gastroparesis, Impulsivity, Tremor, Rigidity, Diarrhea, Bradykinesia, Constipation...	ORPHA:2828
Methionine Adenosyltransferase I/Iii Deficiency	Hypermethioninemia, Dystonia	OMIM:250850
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lymphedema, Nonimmune hydro...	OMIM:607823
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Axial hypotonia, Cerebral palsy, Chorea, Babinski sign, Choreoathetosis, Hypertonia, Dystonia, Sp...	OMIM:618451
Gm1 Gangliosidosis	Generalized dystonia, Short stature, Dystonia, Ataxia, Tremor, Unsteady gait, Hydrops fetalis, Hy...	ORPHA:354
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Waddling gait, Speech apraxia, Dystonia, Short stature, Ataxia, Elevated circulating creatine kin...	OMIM:615356
Autosomal Dominant Spastic Paraplegia Type 9B	Postural tremor, Babinski sign, Hypotonia, Focal dystonia, Spastic dysarthria, Progressive gait a...	ORPHA:447757
Deafness, Dystonia, And Cerebral Hypomyelination	Intrauterine growth retardation, Abnormal pyramidal sign, Tetraplegia, Dystonia	OMIM:300475
Insulinoma	Tremor, Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathy...	ORPHA:97279
Parkinsonian-Pyramidal Syndrome	Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Dysphagia, Bradykinesia, Shufflin...	ORPHA:171695
Pyruvate Carboxylase Deficiency	Anorexia, Tremor, Abnormal pyramidal sign, Dehydration, Vomiting, Compulsive behaviors, Generaliz...	ORPHA:3008
Citrullinemia Type Ii	Restlessness, Hyperactivity, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyper...	ORPHA:247585
Leigh Syndrome	Ataxia, Hypotonia, Pigmentary retinopathy, Generalized hypotonia, Dystonia, Spasticity, Hypertric...	OMIM:256000
Palmoplantar Keratoderma And Congenital Alopecia 2	Nail dystrophy, Alopecia totalis, Nail dysplasia	OMIM:212360
Congenital Disorder Of Glycosylation, Type Im	Death in infancy, Alopecia, Sparse eyelashes, Increased circulating free fatty acid level, Sparse...	OMIM:610768
Dentici-Novelli Neurodevelopmental Syndrome	Axial hypotonia, Precocious puberty, Inability to walk, Hypertonia, Abnormal repetitive mannerisms	OMIM:619877
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Short stature, Hirsutism, Premature pubarche	OMIM:612847
Sézary Syndrome	Alopecia, Edema, Tremor, Nail dystrophy, Irregular hyperpigmentation	ORPHA:3162
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Bradycardia	OMIM:619814
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia	ORPHA:346
Pontocerebellar Hypoplasia, Type 2A	Restlessness, Polyhydramnios, Chorea, Dysphagia, Opisthotonus, Death in childhood, Extrapyramidal...	OMIM:277470
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of the skin, Hypopigmentation of hair, Short stature, Albinism	ORPHA:2786
Infantile Neuroaxonal Dystrophy	Hyperactivity, Axial hypotonia, Dystonia, Ataxia, Impulsivity, Spastic tetraparesis, Unsteady gai...	ORPHA:35069
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Donohue Syndrome	Hypermelanotic macule, Precocious puberty, Postnatal growth retardation, Long penis, Hyperinsulin...	OMIM:246200
Partington Syndrome	Limb dystonia, Lower limb spasticity, Focal dystonia	OMIM:309510
Acrodysostosis 2 With Or Without Hormone Resistance	Hyperactivity, Diabetes mellitus, Hypospadias, Cryptorchidism, Blue irides, Congenital hypothyroi...	OMIM:614613
Cystathioninuria	Tremor, Cystathioninuria, Cystathioninemia	ORPHA:212
Schöpf-Schulz-Passarge Syndrome	Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Ovarian neoplasm	ORPHA:50944
Pontocerebellar Hypoplasia Type 2	Paroxysmal dystonia, Infantile axial hypotonia, Oral-pharyngeal dysphagia, Babinski sign, Choreoa...	ORPHA:2524
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Short stature, Hypercholesterolemia, Maturity-onset diabetes of the young, Precocious puberty, Cr...	ORPHA:96184
Neuroleptic Malignant Syndrome	Hyponatremia, Tachycardia, Elevated circulating creatine kinase concentration, Pulmonary embolism...	ORPHA:94093
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hyperactivity, Hypospadias, Short stature, Aggressive behavior, Tremor, Cryptorchidism, Hypotonia...	OMIM:300354
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Hyperkale...	OMIM:614736
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Ataxia, Abnormality of skin pigmentation, Nail dystrophy, Sparse hair, Intrauterine gro...	OMIM:616353
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Elevated circulating creatine kinase concentration, Tremor, Shuffling gait, Fascic...	ORPHA:209335
9P13 Microdeletion Syndrome	Short stature, Hyperconvex nail, External genital hypoplasia, Highly arched eyebrow, Precocious p...	ORPHA:324313
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Abnormal eyelash morphology, Hypop...	ORPHA:2885
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Gm1-Gangliosidosis, Type Iii	Slurred speech, Short stature, Ataxia, Dystonia	OMIM:230650
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Axial hypotonia, Generalized dystonia, Ataxia, Aggressive behavior, Diarrhea, Chorea, Spastic tet...	OMIM:618321
Rhizomelic Chondrodysplasia Punctata	Alopecia, Rhizomelia, Short stature, Growth delay, Sparse body hair	ORPHA:177
Mandibuloacral Dysplasia With Type B Lipodystrophy	Death in early adulthood, Alopecia, Brittle hair, Insulin-resistant diabetes mellitus, Hyperlipid...	OMIM:608612
Combined Oxidative Phosphorylation Deficiency 57	Death in infancy, Nonimmune hydrops fetalis, Nephrogenic diabetes insipidus, Hypotonia, Myoclonus...	OMIM:620167
Folinic Acid-Responsive Seizures	Broad-based gait, Ataxia, Spastic tetraparesis, Chorea, Hypertonia, Difficulty walking, Dystonia	ORPHA:79097
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Retinal pigment epithelial mottling, Hypotonia, Elevated urinary aminoiso...	OMIM:614105
Neurodegeneration With Brain Iron Accumulation 1	Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso...	OMIM:234200
Alternating Hemiplegia Of Childhood	Anorexia, Oral-pharyngeal dysphagia, Tremor, Chorea, Abnormal pyramidal sign, Dehydration, Hyperh...	ORPHA:2131
Celiac Disease, Susceptibility To, 1	Alopecia, Short stature, Stomatitis, Ataxia, Postnatal growth retardation, Diarrhea, Thyroiditis,...	OMIM:212750
Septopreoptic Holoprosencephaly	Impulsivity, Precocious puberty, Generalized hypotonia, Dysphagia, Anterior hypopituitarism, Cent...	ORPHA:280195
Hemifacial Atrophy, Progressive	Patchy alopecia, Ataxia, Poliosis	OMIM:141300
Dystonia-Deafness Syndrome 1	Generalized dystonia, Oculogyric crisis, Leg dystonia, Pseudobulbar paralysis, Dysphagia, Loss of...	OMIM:607371
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Alopecia, Decreased circulating ceruloplasmin concentration, Short stature, Decreased circulating...	OMIM:242150
Hereditary Methemoglobinemia	Spastic tetraplegia, Athetosis, Hypertonia, Limb dystonia, Spasticity, Abnormality of the nail	ORPHA:621
Dystonia 24	Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia	OMIM:615034
Systemic Lupus Erythematosus 17	Alopecia, Chorea	OMIM:301080
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Mitochondrial Complex I Deficiency, Nuclear Type 26	Choreoathetosis, Limb hypertonia, Dystonia, Dysphagia	OMIM:618247
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Dehydratio...	ORPHA:90794
Temple Syndrome	Hypertriglyceridemia, Short stature, Hypercholesterolemia, Maturity-onset diabetes of the young, ...	OMIM:616222
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Short stature, Ataxia, Postnatal growth retardation, Tremor, Abnormal pyramidal sign, Fine hair, ...	OMIM:612199
Oculopharyngodistal Myopathy 4	Tremor, Postural tremor, Elevated circulating creatine kinase concentration, Dysphagia	OMIM:619790
Autosomal Recessive Cutis Laxa Type 2A	Ataxia, Thick hair, Postnatal growth retardation, Inability to walk, Slurred speech, Hypotonia, A...	ORPHA:357058
Spinocerebellar Ataxia Type 8	Ataxia, Rigidity, Unsteady gait, Dysphagia, Gait ataxia, Spastic dysarthria, Limb ataxia, Bradyki...	ORPHA:98760
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Small scrotum, Highly arched eyebrow, Synophrys, Hypohidrosis, Dystrophic toenail, Hypo...	ORPHA:3253
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Spasticity, Dystonia, Decreased LDL cholesterol concentration, Dysphagia	OMIM:607236
Machado-Joseph Disease Type 1	Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Dysp...	ORPHA:276238
Machado-Joseph Disease Type 2	Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Dysp...	ORPHA:276241
Bainbridge-Ropers Syndrome	Polyhydramnios, Synophrys, Hypertonia, Vomiting, Gastroesophageal reflux, Generalized hypotonia, ...	OMIM:615485
Neurodegeneration With Brain Iron Accumulation 2B	Hyperactivity, Dystonia, Impulsivity, Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia...	OMIM:610217
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	OMIM:606002
Biotinidase Deficiency	Alopecia, Ataxia, Diarrhea, Hypotonia, Hyperammonemia, Vomiting, Lethargy	OMIM:253260
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Short stature, Ataxia, Poor motor coordination, Tremor, Hypotonia, Dysmetria, Gait ataxia, Oculom...	ORPHA:1170
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Incoordination, Ataxia, Clonus, Involuntary movements, Elevated circulating creatine kinase conce...	ORPHA:480864
Ataxia-Oculomotor Apraxia 4	Ataxia, Elevated circulating alpha-fetoprotein concentration, Abnormal pyramidal sign, Tetraplegi...	OMIM:616267
Chromosome Xp11.23-P11.22 Duplication Syndrome	Medial flaring of the eyebrow, Precocious puberty, Synophrys, Hypotonia, Low posterior hairline, ...	OMIM:300801
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Bradycardia	OMIM:614498
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tremor, Abnormal circulating fatty-acid concentration, Diarrhea, Hyperinsulinemia, Hyperhidrosis,...	ORPHA:263455
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Hyperthyroidism, Nonautoimmune	Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ...	OMIM:609152
Partington Syndrome	Macroorchidism, Lower limb spasticity, Gait disturbance, Limb dystonia	ORPHA:94083
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Diabetes mellitus, Adrenal hyperplasia, Increased circulating cortisol level, Primary h...	OMIM:615830
Slc35A2-Cdg	Axial hypotonia, Short stature, Increased circulating thyroglobulin level, Spastic tetraparesis, ...	ORPHA:356961
Argininemia	Hyperactivity, Anorexia, Postnatal growth retardation, Hyperammonemia, Progressive spastic quadri...	OMIM:207800
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti...	OMIM:608768
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Clonus, Bowel incontinence, Babinski sign, Dysphagia, Progressive cerebellar ataxia, Dystonia	OMIM:618868
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hyperalaninemia, Hypospadias, Gastroparesis, Ataxia, Tremor, Cryptorchidism, Hypotonia, Hyperammo...	OMIM:614052
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Hyperthyroidism, Short stature, Thick hair, Tremor, Dysmetria, Growth delay, Progressive cerebell...	ORPHA:502423
Proximal 16P11.2 Microduplication Syndrome	Short stature, Sparse eyelashes, Sparse eyebrow, Tremor, Hypotonia, Compulsive behaviors, Attenti...	ORPHA:370079
Mitochondrial Complex I Deficiency, Nuclear Type 37	Growth delay, Pulmonary arterial hypertension, Bradycardia	OMIM:619272
Precocious Puberty, Central, 2	Premature thelarche, Premature pubarche	OMIM:615346
Kaya-Barakat-Masson Syndrome	Axial hypotonia, Spastic tetraplegia, Generalized hypotonia, Limb dystonia, Intrauterine growth r...	OMIM:619125
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Tremor, Unsteady gait, Slurred speech, Hypotonia, Babinski sign, Clumsiness, Poor...	ORPHA:137898
Developmental And Epileptic Encephalopathy 86	Dystonia, Generalized hypotonia, Oligohydramnios	OMIM:618910
Vitamin D-Dependent Rickets, Type 2A	Hypotonia, Hypophosphatemia, Growth delay, Elevated circulating parathyroid hormone level, Hypoca...	OMIM:277440
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac...	ORPHA:216694
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Short stature, Hyperpigmentation of the skin, Con...	OMIM:202010
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Highly arched eyebrow, Synophrys, Hypotonia, Long eyelashes, Frontal upsweep of hair, Dystonia, S...	OMIM:619286
Aicardi-Goutieres Syndrome 4	Death in childhood, Intrauterine growth retardation, Spasticity, Dystonia	OMIM:610333
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Bifid scrotum, Hyponatremia, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidis...	OMIM:201810
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Broad-based gait, Facial hypotonia, Hypotonia, Gait ataxia, Difficulty walking, Dystonia, Spastic...	OMIM:617807
Liang-Wang Syndrome	Synophrys, Axial hypotonia, Ataxia, Dystonia	OMIM:618729
Congenital Ichthyosiform Erythroderma	Alopecia, Short stature, Abnormality of the nail, Hypohidrosis	ORPHA:79394
Pontocerebellar Hypoplasia, Type 17	Paroxysmal dystonia, Axial hypotonia, Low anterior hairline, Spastic tetraplegia, Gastroesophagea...	OMIM:619909
Hereditary Late-Onset Parkinson Disease	Resting tremor, Dystonia, Parkinsonism, Impulsivity, Akinesia, Rigidity, Bradykinesia, Chronic co...	ORPHA:411602
Charcot-Marie-Tooth Disease, Type 4K	Ataxia, Difficulty walking, Dystonia	OMIM:616684
Smith-Magenis Syndrome	Hypertriglyceridemia, Short stature, Precocious puberty, Abnormal repetitive mannerisms, Synophry...	ORPHA:819
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Spastic ataxia, Hypomethioninemia, Methylmalonic acidemia, Hypotonia, Hyperhomocystinemia, Genera...	OMIM:277410
Malignant Migrating Focal Seizures Of Infancy	Precocious puberty, Inability to walk, Hypertonia, Hypotonia	ORPHA:293181
3-Methylglutaconic Aciduria, Type Viib	Rhizomelia, Ataxia, Polyhydramnios, Tremor, Hypotonia, Dehydration, Opisthotonus, Growth delay, C...	OMIM:616271
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Abnormal circulating carnitine concentration, Choreoathetosis, Progressive spastic quadriplegia, ...	ORPHA:431361
Autosomal Recessive Spastic Paraplegia Type 53	Upper limb hypertonia, Clonus, Limb dystonia	ORPHA:319199
Harel-Yoon Syndrome	Axial hypotonia, Ataxia, Inability to walk, Hypotonia, Dystonia, Spasticity	OMIM:617183
Hypomelanosis Of Ito	Macular hypopigmented whorls, streaks, and patches, Alopecia	OMIM:300337
4Q21 Microdeletion Syndrome	Tremor, Synophrys, Hypotonia, Growth delay, Self-injurious behavior, Long eyelashes, Intrauterine...	ORPHA:238750
Spastic Paraplegia 9B, Autosomal Recessive	Short stature, Tremor, Spastic paraplegia, Babinski sign, Tetraplegia, Growth delay, Pseudobulbar...	OMIM:616586
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Short stature, Ataxia, Reticulated skin pigmentation, Cryptorchidism, Fine hair, Premat...	OMIM:613990
Rett Syndrome	Dystonia, Short stature, Gait apraxia, Truncal ataxia, Gait ataxia, Gastroesophageal reflux, Cons...	OMIM:312750
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short...	OMIM:261740
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Ataxia, Synophrys, Piebaldism, Hypotoni...	ORPHA:2884
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Alopecia, Paradoxical increased cortisol secretion on dexametha...	ORPHA:189427
19P13.12 Microdeletion Syndrome	Hyperactivity, Hypospadias, Precocious puberty, Cryptorchidism, Synophrys, Hyperlipidemia, Hypoto...	ORPHA:254346
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Highly arched eyebrow, Inability to walk, Infantile muscular hypotonia, Self-injurious behavior, ...	ORPHA:457351
Kury-Isidor Syndrome	Alopecia, Hypotonia, Growth delay, Attention deficit hyperactivity disorder, Hypertrichosis	OMIM:619762
Waardenburg-Shah Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, White eyelashes, White eyebrow, Intestinal...	ORPHA:897
Acitretin/Etretinate Embryopathy	Third degree atrioventricular block, Hypoplasia of the thymus, Bradycardia	ORPHA:40366
Congenital Generalized Lipodystrophy	Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females, Hypercholeste...	ORPHA:528
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Hypotonia, Myoclonus	OMIM:616366
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric...	OMIM:614954
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Leydig Cell Hypoplasia	Abnormal internal genitalia, Decreased serum testosterone concentration, Hypospadias, Abnormal ex...	ORPHA:755
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Dystonia, Hypospadias, Ataxia, Hypotonia, Hyperammonemia, Growth delay, Choreoathetosis, Gastroes...	OMIM:615471
Neurodevelopmental Disorder With Spasticity And Poor Growth	Axial hypotonia, Short stature, Generalized dystonia, Ataxia, Clonus, Synophrys, Babinski sign, N...	OMIM:618076
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi...	ORPHA:129
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Cntnap2-Related Developmental And Epileptic Encephalopathy	Lower limb spasticity, Hyperactivity, Cerebral palsy, Ataxia, Aggressive behavior, Precocious pub...	ORPHA:163681
Satoyoshi Syndrome	Short stature, Nephrogenic diabetes insipidus, Abnormal hair morphology, Hypoplasia of the uterus...	ORPHA:3130
Precocious Puberty, Central, 1	Short stature, Elevated circulating luteinizing hormone level, Isosexual precocious puberty, Elev...	OMIM:176400
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Dystonia, Ataxia, Involuntary movements, Inability to walk, Synophrys, Widow's peak, Chorea, Hypo...	OMIM:617804
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Ataxia, Inability to walk, Hypotonia, Gastroesophageal reflux, Dystonia...	ORPHA:79243
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Hyperparathyroidism, Short stature, Gait disturbance, Hypocalcemia, Hypophosphatemia	ORPHA:93160
Necrotizing Enterocolitis	Shock, Hyponatremia, Bradycardia, Hypotension	ORPHA:391673
Autosomal Recessive Spastic Paraplegia Type 78	Babinski sign, Abnormal pyramidal sign, Progressive spastic quadriplegia, Progressive gait ataxia...	ORPHA:513436
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Axial hypotonia, Head titubation, Increased circulating ferritin concentration, Diarrhea, Vestibu...	ORPHA:3240
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Head titubation, Cryptorchidism, Hypotonia, Truncal ataxia, Vomiting, Dystonia	ORPHA:88639
Filippi Syndrome	Severe short stature, Short stature, Supernumerary nipple, Cryptorchidism, Hypotonia, Paraplegia,...	ORPHA:3255
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Frontal balding, Precocious puberty, Incre...	ORPHA:786
Machado-Joseph Disease Type 3	Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Dysp...	ORPHA:276244
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr...	ORPHA:91348
Familial Paroxysmal Ataxia	Hemiplegia, Torticollis, Ataxia, Dystonia	ORPHA:97
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Broad-based gait, Ataxia, Decreased response to growth hormone stimulation test, Elevated circula...	OMIM:610978
Nabais Sa-De Vries Syndrome, Type 2	Polyhydramnios, Sparse eyebrow, Chorea, Hemiparesis, Chronic constipation, Gastroesophageal reflu...	OMIM:618829
Dystonia 26, Myoclonic	Torticollis, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia	OMIM:616398
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyebrow, Alopecia, Short stature, Abnormality of the endocrine system, Cryptorchidism, Abs...	ORPHA:166035
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Hypoplastic thumbnail, Precocious puberty, Hypoplastic toenails, Hypoplastic fifth fingernail, He...	OMIM:619356
Squalene Synthase Deficiency	Hypospadias, Increased circulating farnesol concentration, Bilateral cryptorchidism, Abnormality ...	OMIM:618156
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level,...	ORPHA:293978
Incontinentia Pigmenti	Alopecia, Abnormal fingernail morphology, Short stature, Supernumerary nipple, Abnormal hair morp...	ORPHA:464
Aicardi-Goutieres Syndrome 9	Acute pancreatitis, Axial hypotonia, Edema, Spastic tetraparesis, Pericardial effusion, Spastic t...	OMIM:619487
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Dystonia, Ataxia, Oral-pharyngeal dysphagia, Postnatal growth retardation, Tremor, Synophrys, Spa...	OMIM:300966
Posttransplant Acute Limbic Encephalitis	Hyponatremia, Ataxia, Myoclonus, Dystonia	ORPHA:163921
Hereditary Mucoepithelial Dysplasia	Sparse hair, Alopecia, Abnormal morphology of female internal genitalia, Fine hair	ORPHA:1839
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia, Short stature	ORPHA:88630
Alexander Disease	Diabetes mellitus, Ataxia, Clonus, Bowel incontinence, Precocious puberty, Tremor, Chorea, Abnorm...	ORPHA:58
Pelizaeus-Merzbacher Disease	Short stature, Ataxia, Bowel incontinence, Hypotonia, Choreoathetosis, Gait disturbance, Dystonia...	ORPHA:702
Epidermolysis Bullosa, Junctional 1A, Intermediate	Patchy alopecia, Nail dystrophy, Fragile nails, Palmar hyperhidrosis	OMIM:226650
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Chroni...	OMIM:618060
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia, Short stature, Precocious puberty, Growth delay, Hypophosphatemic rickets, Hypopigmenta...	OMIM:163200
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Growth delay, Bradycardia	OMIM:608800
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar...	ORPHA:91354
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Ambiguous genitalia, male, Decreased serum estradiol, Decreased circula...	ORPHA:90796
Rapp-Hodgkin Syndrome	Hypospadias, Sparse eyelashes, Supernumerary nipple, Slow-growing hair, Sparse eyebrow, Short sta...	OMIM:129400
Spastic Ataxia 3, Autosomal Recessive	Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Dystonia, Loss of ambulation, Spasticity	OMIM:611390
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Alopecia, Abnormal circulating lipid concentration, Enlarged polycystic ovaries...	ORPHA:2298
Lipoid Proteinosis Of Urbach And Wiethe	Patchy alopecia, Aggressive behavior	OMIM:247100
Combined Oxidative Phosphorylation Deficiency 27	Severe muscular hypotonia, Chorea, Hypotonia, Hyperammonemia, Opisthotonus, Myoclonus, Tetrapares...	OMIM:616672
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Hyperthyroidism, Hypokalemia, Palpitations, Goiter	OMIM:188580
Developmental And Epileptic Encephalopathy 89	Axial hypotonia, Highly arched eyebrow, Sparse eyebrow, Hypoplastic labia minora, Hypoplastic lab...	OMIM:619124
Coenzyme Q10 Deficiency, Primary, 1	Hypergonadotropic hypogonadism, Ataxia, Elevated circulating creatine kinase concentration, Tremo...	OMIM:607426
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Severe short stature, Moderate postnatal growth retardation, Hypohidrosis, Sparse hair,...	ORPHA:1005
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Edema, Tremor, Hypotonia, Impaired tandem gait, Polyminimyoclonus, Fasciculations, Dysphagia, Voc...	OMIM:619574
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Dehydration, Sex...	ORPHA:289548
Peripartum Cardiomyopathy	Tachycardia, Diabetes mellitus, Abnormality of thyroid physiology, Right ventricular failure, Car...	ORPHA:563
Developmental And Epileptic Encephalopathy 51	Supernumerary nipple, Inability to walk, Babinski sign, Abnormal pyramidal sign, Hypotonia, Const...	OMIM:617339
Developmental And Epileptic Encephalopathy 84	Axial hypotonia, Synophrys, Chorea, Babinski sign, Opisthotonus, Generalized hypotonia, Dystonia,...	OMIM:618792
Intellectual Developmental Disorder, Autosomal Recessive 76	Chronic constipation, Self-injurious behavior, Precocious puberty in females	OMIM:619931
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Dehydration, Sex reversal, Ambiguous ge...	ORPHA:168558
Combined Oxidative Phosphorylation Defect Type 13	Axial hypotonia, Choreoathetosis, Lower limb hypertonia, Generalized hypotonia, Limb dystonia, In...	ORPHA:319514
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Death in early adulthood, Alopecia, Sparse eyelashes, Edema, Sparse eyebrow, Death in adolescence...	OMIM:605676
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Autosomal Recessive Axonal Neuropathy With Neuromyotonia	Writer's cramp, Elevated circulating creatine kinase concentration, Hyperhidrosis, Limb fascicula...	ORPHA:324442
Congenital Bile Acid Synthesis Defect Type 4	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Hematochezia, Pigmentary reti...	ORPHA:79095
Neuropathy, Congenital Hypomyelinating, 3	Polyhydramnios, Babinski sign, Gastroesophageal reflux, Dystonia, Neonatal death, Spasticity	OMIM:618186
Silver-Russell Syndrome	Abnormality of male external genitalia, Hypospadias, Short stature, Precocious puberty, Cryptorch...	ORPHA:813
Combined Oxidative Phosphorylation Defect Type 39	Intrauterine growth retardation, Bradycardia	ORPHA:565624
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Nail dystrophy, Nail dysp...	OMIM:612843
Macs Syndrome	Alopecia, Hypergonadotropic hypogonadism, Short stature, Palpebral edema, Sparse eyebrow, Cryptor...	OMIM:613075
H Syndrome	Abnormal eyebrow morphology, Alopecia, Diabetes mellitus, Short stature, Hypertriglyceridemia, Up...	ORPHA:168569
Oculocerebrocutaneous Syndrome	Cryptorchidism, Alopecia	OMIM:164180
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Ataxia, Dysmetria, Clumsiness, Increased LDL cholesterol concentration, Pro...	OMIM:277460
Wolfram Syndrome 1	Diabetes mellitus, Diabetes insipidus, Ataxia, Tremor, Growth delay, Pigmentary retinopathy, Dysp...	OMIM:222300
Acquired Partial Lipodystrophy	Lymphocytosis	ORPHA:79087
X-Linked Agammaglobulinemia	Alopecia, Short stature, Chronic diarrhea, Hypopigmented skin patches, Hypocalcemia	ORPHA:47
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp...	ORPHA:79153
Leukodystrophy, Progressive, Early Childhood-Onset	Appendicular spasticity, Axial hypotonia, Short stature, Dystonia, Thick eyebrow	OMIM:617762
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Nonimmune hydrops fetalis, Palpebr...	OMIM:137940
Incontinentia Pigmenti	Ridged nail, Alopecia, Short stature, Supernumerary nipple, Nail pits, Fine hair, Abnormality of ...	OMIM:308300
Peripheral Primitive Neuroectodermal Tumor	Torticollis, Elevated carcinoma antigen 125 level, Anorexia, Elevated circulating alpha-fetoprote...	ORPHA:370348
Dyskeratosis Congenita, Digenic	Alopecia, Sparse eyelashes, Short stature, Abnormality of skin pigmentation, Gastroesophageal ref...	OMIM:620040
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Sparse scalp hair, Alopecia, Postnatal growth retardation, Insulin-resistant diabetes...	OMIM:248370
Pediatric-Onset Graves Disease	Hyperactivity, Polydipsia, Puberty and gonadal disorders, Tremor, Thyrotoxicosis with diffuse goi...	ORPHA:525731
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Broad-based gait, Tongue thrusting, Dysphagia, Gait imbalance, Infantil...	ORPHA:98795
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Restlessness, Hyperactivity, Short stature, Facial hypotonia, Aggressive behavior, Cryptorchidism...	OMIM:300534
Combined Oxidative Phosphorylation Deficiency 39	Dystonia, Involuntary movements, Babinski sign, Ankle clonus, Death in childhood, Type I diabetes...	OMIM:618397
Niemann-Pick Disease, Type C2	Death in infancy, Dystonia, Ataxia, Fetal ascites, Polyhydramnios, Hypotonia, Death in childhood,...	OMIM:607625
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Abnormality of extrapyramidal motor function, Hype...	ORPHA:79233
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Rigidity, Truncal ataxia, Bradykinesia, Poor fine ...	ORPHA:309854
Rasmussen Subacute Encephalitis	Hyperactivity, Involuntary movements, Hemidystonia, Inability to walk, Hemiparesis, Attention def...	ORPHA:1929
Polyembryoma	Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Elevated circulati...	ORPHA:180229
Gerstmann-Straussler Disease	Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoc...	OMIM:137440
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia totalis, Absent fingernail, Neonatal death, Anonychia, Alopecia universalis	OMIM:609638
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Short stature, Polyhydramnios, Growth delay, Generalized hypotonia, Int...	OMIM:618541
Autoimmune Lymphoproliferative Syndrome, Type Iii	Alopecia, Elevated circulating C-reactive protein concentration	OMIM:615559
Global Developmental Delay With Speech And Behavioral Abnormalities	Supernumerary nipple, Precocious puberty, Cryptorchidism, Hypotonia, Attention deficit hyperactiv...	OMIM:619243
Gapo Syndrome	Alopecia, Sparse eyelashes, Short stature, Palpebral edema, Sparse eyebrow, Early balding, Hypopi...	ORPHA:2067
Glutaryl-Coa Dehydrogenase Deficiency	Dystonia, Severe muscular hypotonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, D...	ORPHA:25
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Impulsivity, Aggressive behavior, Fragile nails, Small nail, Pili torti, Trichorrhexis ...	OMIM:261990
Congenital Disorder Of Glycosylation, Type Ii	Short stature, Diarrhea, Gastroesophageal reflux, Generalized hypotonia, Dystonia, Hypothyroidism	OMIM:607906
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Dystonia, Abnormal location of the eyebrow, Ataxia, Repetitive compulsive behavior, Widow's peak,...	ORPHA:522077
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Lipoid Proteinosis	Dystonia, Alopecia of scalp, Dysphagia	ORPHA:530
Ataxia-Oculomotor Apraxia Type 4	Oculomotor apraxia, Ataxia, Dystonia	ORPHA:459033
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia, Elevated circulating parathyroid hormone level	OMIM:600785
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Retinal hemorrhage, Growth delay, Hypertension, Bradycardia, Intrauterine growth ret...	OMIM:614653
Pseudo-Torch Syndrome 2	Bradycardia, Cerebral hemorrhage	OMIM:617397
Griscelli Syndrome Type 2	Hypopigmentation of hair, Partial albinism, Hyperlipidemia, Premature graying of hair, Hypertonia...	ORPHA:79477
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Growth delay, Spastic paraplegia, Long eyelashes, Axial dystonia	OMIM:619026
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased serum pyruvate, Death in infancy, Hypoplastic toenails, Hypotonia, Limb dystonia, Lethargy	OMIM:604377
Glutaric Acidemia I	Rigidity, Hypotonia, Spastic diplegia, Opisthotonus, Choreoathetosis, Generalized hypotonia, Dyst...	OMIM:231670
Wieacker-Wolff Syndrome	Short stature, Hypotonia, Spasticity, Generalized hypotonia, Dystonia, Oculomotor apraxia, High a...	OMIM:314580
Zinc Deficiency, Transient Neonatal	Decreased serum zinc, Alopecia	OMIM:608118
Japanese Encephalitis	Hyponatremia, Weakness due to upper motor neuron dysfunction, Anorexia, Paralysis, Tremor, Diarrh...	ORPHA:79139
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Paralysis, Chorea, Abnormal ...	OMIM:272750
46,Xy Sex Reversal 1	Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute...	OMIM:400044
Myotonic Dystrophy 2	Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio...	OMIM:602668
Wilson Disease	Decreased circulating ceruloplasmin concentration, Edema, Tremor, Pedal edema, Hand tremor, Amino...	OMIM:277900
Neutral Lipid Storage Disease With Ichthyosis	Alopecia, Hypertriglyceridemia, Short stature, Ataxia, Abnormal circulating creatine kinase conce...	ORPHA:98907
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Hyperactivity, Short stature, Broad-based gait, Abnormal hair pattern, Aggre...	ORPHA:85293
19P13.3 Microduplication Syndrome	Hyperactivity, Unilateral cryptorchidism, Precocious puberty, Growth delay, Self-injurious behavi...	ORPHA:447980
Sepsis In Premature Infants	Tachycardia, Elevated circulating C-reactive protein concentration, Bradycardia, Hypotension	ORPHA:90051
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:2229
Combined Oxidative Phosphorylation Deficiency 35	Spasticity, Generalized hypotonia, Dystonia	OMIM:617873
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Hypotonia, Dysmetria, Intrauterine growth retardation, Oligohydramnios	OMIM:615578
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Blepharospas...	ORPHA:101
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow	OMIM:614564
Bathing Suit Ichthyosis	Sparse hair, Alopecia, Nail dystrophy, Hypohidrosis	ORPHA:100976
Cimdag Syndrome	Death in early adulthood, Ataxia, Chorea, Hypotonia, Hypogonadism, Dystonia, Spasticity	OMIM:619273
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Writer's cramp, Hyperphosphatemia, Hypocalcemia, Hypoma...	ORPHA:428
Rett Syndrome, Congenital Variant	Dystonia, Chorea, Tongue thrusting, Athetosis, Constipation, Gastroesophageal reflux, Generalized...	OMIM:613454
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Death in infancy, Ataxia, Elevated circulating creatine kinase concentration, Tremo...	OMIM:610505
Dyskeratosis Congenita	Abnormal eyebrow morphology, Alopecia, Diabetes mellitus, Abnormal fingernail morphology, Short s...	ORPHA:1775
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Alopecia, Aplastic/hypoplastic toenail, Hemiparesis, Hypertonia, Abs...	ORPHA:974
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Alopecia, Short stature, Abnormal hair morphology, Hyperlipidemia, Nail dystrophy, De...	ORPHA:90154
Developmental Malformations-Deafness-Dystonia Syndrome	Death in early adulthood, Generalized dystonia, Short stature, Dysphagia, Achalasia	ORPHA:79107
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Intention tremor, At...	ORPHA:99027
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia	OMIM:242510
Chanarin-Dorfman Syndrome	Alopecia, Ataxia	OMIM:275630
Den Hoed-De Boer-Voisin Syndrome	Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Inability to walk, Widow's peak, Hypotoni...	OMIM:619229
Precocious Puberty, Male-Limited	Decreased testicular size, Precocious puberty in males	OMIM:176410
Optic Pathway Glioma	Precocious puberty, Growth delay, Vomiting, Nausea	ORPHA:2086
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Axial hypotonia, Polyhydramnios, Vocal cord paralysis, Dysphagia, Gastroesophageal reflux, Myoclo...	ORPHA:500144
Aicardi-Goutieres Syndrome 1	Axial hypotonia, Short stature, Diabetes insipidus, Inability to walk, Abnormality of extrapyrami...	OMIM:225750
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula...	ORPHA:99827
Ichthyosis, Congenital, Autosomal Recessive 1	Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia	OMIM:242300
Mercury Poisoning	Anorexia, Tremor, Hypokalemia, Dystonia, Episodic vomiting, Nausea	ORPHA:330021
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Edema of the dorsum of feet, Edema of the dorsum of hands, Rigidity...	ORPHA:521426
Caribbean Parkinsonism	Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive...	ORPHA:97355
Fatty Acid Hydroxylase-Associated Neurodegeneration	Generalized dystonia, Progressive spastic paraparesis, Progressive spastic quadriplegia, Progress...	ORPHA:329308
Wars2-Related Combined Oxidative Phosphorylation Defect	Ataxia, Aggressive behavior, Tremor, Spastic tetraplegia, Dysphagia, Dysmetria, Athetosis, Diffic...	ORPHA:572798
Siddiqi Syndrome	Limb dystonia	OMIM:618635
Biotinidase Deficiency	Alopecia, Ataxia, Hypotonia, Hyperammonemia, Spastic paraparesis, Lethargy	ORPHA:79241
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Hypermelanotic macule, Multinodular goiter, Hypomelanotic macule, Nail dystrophy, Freck...	OMIM:618373
Omenn Syndrome	Alopecia, Edema, Chronic diarrhea, Thyroiditis, Hypothyroidism, Aplasia/Hypoplasia of the eyebrow	ORPHA:39041
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Chorea, Hypertonia, Compulsive behaviors, Lim...	ORPHA:2388
Developmental And Epileptic Encephalopathy 29	Axial hypotonia, Short stature, Chorea, Blepharospasm, Limb dystonia, Intrauterine growth retarda...	OMIM:616339
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Short stature, Anorexia, Paronychia, Chronic ...	ORPHA:37
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Low anterior hairline, Gastroesophageal reflux, Self-mutilation, Short stature, Ataxia, Precociou...	OMIM:619950
Pyruvate Dehydrogenase E2 Deficiency	Speech apraxia, Paroxysmal dystonia, Broad-based gait, Babinski sign, Hypertonia, Gait disturbanc...	ORPHA:79244
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Hypospadias, Short stature, Polyhydramnios, Ataxia, Bilateral cryptorchidism, Cryptorchidism, Tre...	OMIM:300998
Marburg Hemorrhagic Fever	Shock, Tachycardia, Pericarditis, Elevated circulating creatine kinase concentration, Hyperamylas...	ORPHA:99826
Niemann-Pick Disease, Type C1	Ataxia, Fetal ascites, Hypotonia, Dysphagia, Gait ataxia, Generalized hypotonia, Dystonia, Catapl...	OMIM:257220
Autosomal Recessive Ataxia, Beauce Type	Lower limb spasticity, Ataxia, Babinski sign, Dysmetria, Clumsiness, Ankle clonus, Arm dystonia, ...	ORPHA:88644
Kallmann Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypoplasia of penis, Hypogonadotropic hyp...	ORPHA:478
Osteoporosis-Pseudoglioma Syndrome	Waddling gait, Short stature, Isosexual precocious puberty, Infantile muscular hypotonia, Loss of...	ORPHA:2788
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,...	OMIM:145600
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Growth delay, Constipation, Nail dystrophy, Nail dysplasia, Dysphagia	OMIM:226600
Lujo Hemorrhagic Fever	Shock, Elevated circulating C-reactive protein concentration, Myocarditis, Subconjunctival hemorr...	ORPHA:319213
Gabriele-De Vries Syndrome	Waddling gait, Facial hypotonia, Sparse eyebrow, Cryptorchidism, Tremor, Hypotonia, Tip-toe gait,...	OMIM:617557
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Chronic diarrhea, Fine hair, Ovarian neopl...	ORPHA:2221
Metachromatic Leukodystrophy	Ataxia, Chorea, Babinski sign, Hypotonia, Spastic tetraplegia, Tetraplegia, Gait disturbance, Gen...	OMIM:250100
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bifid scrotum, Clonus, Synophrys, Abnormality of skin pigmentation, Hypertonia, Vomiting, Tics, C...	OMIM:619475
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia, Atrophic gastritis	OMIM:616576
Niemann-Pick Disease Type C	Fetal ascites, Tremor, Chorea, Abnormal pyramidal sign, Hydrops fetalis, Progressive gait ataxia,...	ORPHA:646
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Lichen Planopilaris	Alopecia, Onycholysis, Abnormal fingernail morphology, Hypopigmented skin patches	ORPHA:525
Alg3-Cdg	Spastic tetraparesis, Abnormality of the endocrine system, Hypotonia, Hypertonia, Dystonia, Hypop...	ORPHA:79321
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Steinert Myotonic Dystrophy	Decreased response to growth hormone stimulation test, Polyhydramnios, Oral-pharyngeal dysphagia,...	ORPHA:273
Microduplication Xp11.22P11.23 Syndrome	Precocious puberty	ORPHA:217377
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Short stature, Absent eyelashes, Hyperlipidemia, Hypotonia...	ORPHA:90153
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh...	ORPHA:894
Colchicine Poisoning	Hyponatremia, Alopecia, Diarrhea, Abnormal blood ion concentration, Dehydration, Hypophosphatemia...	ORPHA:31824
Amyotrophic Dystonic Paraplegia	Spastic paraplegia, Bowel incontinence, Dystonia	OMIM:105300
Mccune-Albright Syndrome	Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio...	OMIM:174800
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb...	OMIM:308240
Phakomatosis Pigmentokeratotica	Lymphedema, Precocious puberty, Cryptorchidism, Hyperhidrosis, Melanocytic nevus, Hemiparesis, Pa...	ORPHA:2874
Blepharonasofacial Malformation Syndrome	Abnormal eyelash morphology, Cryptorchidism, Torsion dystonia, Low posterior hairline, Sparse lat...	ORPHA:1252
Metachromatic Leukodystrophy, Adult Form	Bowel incontinence, Chorea, Babinski sign, Clumsiness, Progressive spastic quadriplegia, Progress...	ORPHA:309271
Dystonia-Aphonia Syndrome	Generalized dystonia, Unsteady gait, Gait disturbance, Myoclonus, Dysphagia, Oromandibular dystonia	ORPHA:412217
Glossopharyngeal Neuralgia	Syncope, Jaw claudication, Bradycardia	ORPHA:221098
Xeroderma Pigmentosum	Alopecia, Short stature, Ataxia, Hypermelanotic macule, Cryptorchidism, Hypopigmented skin patche...	ORPHA:910
Basilicata-Akhtar Syndrome	Precocious puberty, Chronic constipation, Gastroesophageal reflux, Generalized hypotonia, Progres...	OMIM:301032
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated circulating creatine kinase concentration, Edema, Tremor, Gait ataxia, Hypertonia, Gastr...	ORPHA:254892
Kcnq2-Related Epileptic Encephalopathy	Inability to walk, Poor gross motor coordination, Hypotonia, Dystonia, Cerebral edema	ORPHA:439218
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Anhidrosis, Alopecia, Abnormal fingernail morphology, Palmoplantar hyperhidrosis, Sparse hair	ORPHA:659
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Melanocytic ...	ORPHA:978
Rothmund-Thomson Syndrome Type 1	Calcinosis, Hypopigmentation of the skin, Short stature, Alopecia totalis, Hyperpigmentation of t...	ORPHA:221008
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Bruxism, Agitation, Gait disturbance, Dystonia, Recurrent hand flapping	OMIM:617903
Von Hippel-Lindau Disease	Pancreatic islet cell adenoma, Myocardial infarction, Myocarditis, Pancreatic endocrine tumor, Ad...	ORPHA:892
Cockayne Syndrome Type 1	Lower limb spasticity, Ataxia, Hypermelanotic macule, Postnatal growth retardation, Cryptorchidis...	ORPHA:90321
Kufor-Rakeb Syndrome	Eyelid apraxia, Oculogyric crisis, Bowel incontinence, Parkinsonism, Rigidity, Upper motor neuron...	ORPHA:306674
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Precocious puberty, Cryptorchidism, Labial hypoplasia, Attention deficit hyperactivity disorder, ...	OMIM:620073
Premature Ovarian Failure 21	Decreased serum estradiol, Streak ovary, Precocious puberty in females, Elevated circulating foll...	OMIM:620311
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Restlessness, Torticollis, Ataxia, Tremor, Rigidity, Hypotonia, Tetraparesis, Death in childhood,...	OMIM:617186
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spasticity	OMIM:616840
Marbach-Schaaf Neurodevelopmental Syndrome	Speech apraxia, Torticollis, Hemidystonia, Aggressive behavior, Tremor, Attention deficit hyperac...	OMIM:619680
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Alopecia, Hyperthyroidism, Gastritis, Abnormality of the endocrine system, Hypomagnesemia, Ileus,...	ORPHA:37042
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Ataxia, Hypotonia, Myoclonus, Dystonia, Neonatal death	OMIM:619167
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Calcinosis, Alopecia, Palpebral edema, Elevated circulating creatine...	ORPHA:93672
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Tremor, Vocal cord paralysis, Mildly elevated creatine kinase, Dysphagia	ORPHA:397744
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Axial hypotonia, Short stature, Limb dystonia	OMIM:620269
8P Inverted Duplication/Deletion Syndrome	Frontal balding, Impulsivity, Precocious puberty, Cryptorchidism, Synophrys, Spastic tetraplegia,...	ORPHA:96092
Pediatric Systemic Lupus Erythematosus	Alopecia, Edema, Pericardial effusion, Diarrhea, Vomiting, Hemiplegia, Pleural effusion, Ascites	ORPHA:93552
Yellow Fever	Shock, Elevated circulating creatine kinase concentration, Supraventricular arrhythmia, Hematemes...	ORPHA:99829
Cortisone Reductase Deficiency 2	Premature pubarche	OMIM:614662
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Ileus, Abnormal pyramidal sign, Hy...	ORPHA:163746
Mcleod Syndrome	Elevated circulating creatine kinase concentration, Chorea, Compulsive behaviors, Dystonia, Reduc...	OMIM:300842
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Tremor, Diarrhea, Abnormal pyramidal sign, Truncal ataxia, Limb ataxia, Paraplegia, Hemip...	OMIM:105210
Bartsocas-Papas Syndrome	Alopecia totalis, Hypoplastic toenails, Sparse or absent eyelashes, Hypoplastic male external gen...	ORPHA:1234
Olmsted Syndrome 1	Subungual hyperkeratosis, Hyperhidrosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia un...	OMIM:614594
Atypical Werner Syndrome	Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Alopecia, Short stature...	ORPHA:79474
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Alopecia, Hypospadias, Supernumerary nipple	ORPHA:3224
Pachyonychia Congenita	Alopecia, Paronychia, Onychogryposis of toenails, Fingernail dysplasia, Nail dystrophy, Palmoplan...	ORPHA:2309
Tsh-Secreting Pituitary Adenoma	Tremor, Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Vomiting, ...	ORPHA:91347
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Appendicular spasticity, Axial hypotonia, Dysphagia, Myoclonus, Dystonia	OMIM:617669
Keutel Syndrome	Alopecia, Short stature	ORPHA:85202
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Torticollis, Postnatal growth retardation, Inability to walk, Oculomotor apraxia,...	ORPHA:300570
Metachromatic Leukodystrophy, Late Infantile Form	Babinski sign, Gait ataxia, Clumsiness, Progressive gait ataxia, Tip-toe gait, Decerebrate rigidi...	ORPHA:309256
Oculocerebrocutaneous Syndrome	Alopecia, Abnormal fingernail morphology, Cryptorchidism, Hemiplegia/hemiparesis, Hypopigmented s...	ORPHA:1647
Cystinosis, Nephropathic	Oral-pharyngeal dysphagia, Dehydration, Aminoaciduria, Hypophosphatemic rickets, Male hypogonadis...	OMIM:219800
Combined Oxidative Phosphorylation Deficiency 12	Axial hypotonia, Spastic tetraparesis, Elevated circulating alpha-fetoprotein concentration, Babi...	OMIM:614924
Cadds	Intrauterine growth retardation, Increased circulating very long-chain fatty acid concentration, ...	ORPHA:369942
African Trypanosomiasis	Tremor, Choreoathetosis, Vomiting, Nausea, Alopecia, Abnormal central motor function, Paralysis, ...	ORPHA:3385
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis	ORPHA:86843
Migraine, Familial Hemiplegic, 2	Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia, Nausea, Cerebr...	OMIM:602481
Episodic Ataxia, Type 2	Episodic ataxia, Progressive cerebellar ataxia, Dystonia	OMIM:108500
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Nail dystrophy, Alopecia totalis	ORPHA:1366
Immunodeficiency 92	Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt...	OMIM:619652
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,...	OMIM:171420
Metachromatic Leukodystrophy	Incoordination, Ataxia, Bowel incontinence, Tremor, Tip-toe gait, Gait disturbance, Decerebrate r...	ORPHA:512
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Hyperthyroidism, Primary hypercortisolism, Elevated circulating ...	ORPHA:562
Giant Cell Arteritis	Alopecia, Ataxia, Anorexia, Hyperhidrosis, Diabetes insipidus	ORPHA:397
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Dystonia, Clonus, Tremor, Hypotonia, Growth delay, Hypertonia, Generalized hypo...	OMIM:617248
Short Syndrome	Sparse hair, Alopecia, Diabetes mellitus, Severe short stature	ORPHA:3163
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Chronic diarrhea, Ileus, Type I diabetes mellitus, Hypothyroidism	OMIM:304790
Carney Complex, Type 1	Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c...	OMIM:160980
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Ataxia, Nail pits, Reticular hyperpigmentation, Premature graying of hair,...	OMIM:127550
Congenital Disorder Of Glycosylation, Type Ia	Death in infancy, Hypergonadotropic hypogonadism, Nonimmune hydrops fetalis, Edema, Ataxia, Peric...	OMIM:212065
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Short stature, Absent eyelashes, C...	OMIM:268400
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia	ORPHA:514
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, H...	ORPHA:90790
Trichotillomania	Hair-pulling, Alopecia, Compulsive behaviors	OMIM:613229
Metachromatic Leukodystrophy, Juvenile Form	Babinski sign, Clumsiness, Progressive gait ataxia, Decerebrate rigidity, Generalized hypotonia, ...	ORPHA:309263
Autoimmune Polyendocrinopathy Type 3	Alopecia, Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Prim...	ORPHA:227982
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Bilateral cryptorchidism, Sparse eyebrow, Fine hair, Hypohidr...	OMIM:613451
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Axial hypotonia, Tremor, Truncal titubation, Dysmetria, Gait ataxia...	OMIM:618056
Galloway-Mowat Syndrome 1	Axial hypotonia, Short stature, Ataxia, Spastic tetraplegia, Hypotonia, Hypoalbuminemia, Small na...	OMIM:251300
Autoimmune Polyendocrinopathy Type 4	Alopecia, Atrophic gastritis, Hypergonadotropic hypogonadism, Primary adrenal insufficiency, Xero...	ORPHA:227990
Triosephosphate Isomerase Deficiency	Death in infancy, Tremor, Unsteady gait, Hypotonia, Death in adolescence, Generalized hypotonia, ...	OMIM:615512
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Facial hypotonia, Inability to walk, Chorea, Oculomotor apraxia, Decreased LDL cholesterol concen...	ORPHA:404454
Supranuclear Palsy, Progressive, 1	Axial dystonia, Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Dysphagia, Bradykinesia...	OMIM:601104
Pituitary Gigantism	Elevated circulating growth hormone concentration, Hyperhidrosis, Increased circulating insulin-l...	ORPHA:99725
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Short stature, Decreased serum leptin, Sparse eyeb...	OMIM:614008
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Alopecia, Short stature, Adrenal hypoplasia, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholest...	OMIM:308050
Developmental And Epileptic Encephalopathy 38	Axial hypotonia, Ataxia, Gastroesophageal reflux, Dystonia, Limb hypertonia	OMIM:617020
Systemic Sclerosis	Alopecia, Gastroparesis, Nail bed telangiectasia, Bowel incontinence, Elevated circulating creati...	ORPHA:90291
Supranuclear Palsy, Progressive, 2	Axial dystonia, Eyelid apraxia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, ...	OMIM:609454
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Axial hypotonia, Low anterior hairline, Generalized hypotonia, Dystonia, Limb hypertonia	OMIM:616875
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Early Infantile Epileptic Encephalopathy	Hyperactivity, Dystonia, Precocious puberty, Tremor, Spasticity, Absent thumbnail, Self-injurious...	ORPHA:1934
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Dystonia, Hydrops fetalis, Abnormality of extrapyramidal motor func...	ORPHA:79255
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Edema, Bloody diarrhea, Hypertonia, Generalized hypotonia, Hypothyroidism, Pe...	OMIM:615846
Dyskeratosis Congenita, X-Linked	Ridged nail, Split nail, Alopecia, Hypospadias, Sparse eyelashes, Short stature, Phimosis, Ataxia...	OMIM:305000
Mandibulofacial Dysostosis With Alopecia	Alopecia, Sparse eyelashes	OMIM:616367
Koolen-De Vries Syndrome Due To A Point Mutation	Speech apraxia, Hypopigmentation of the skin, Alopecia, Hypospadias, Decreased response to growth...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Speech apraxia, Hypopigmentation of the skin, Alopecia, Hypospadias, Decreased response to growth...	ORPHA:363958
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Short stature, Ataxia, Cryptorchidism, Ocular albinism, Spastic tetrapl...	ORPHA:2719
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males, Progressive spastic paraplegia	ORPHA:2826
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Dystonia, Hypospadias, Aggressive behavior, Unsteady gait, Hyperhidrosis,...	ORPHA:17
Immunodeficiency, Common Variable, 10	Trachyonychia, Decreased response to growth hormone stimulation test, Alopecia totalis, Central a...	OMIM:615577
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Abnormal circulating aldos...	OMIM:300539
Proximal 16P11.2 Microdeletion Syndrome	Speech apraxia, Choreoathetosis, Gastroesophageal reflux, Attention deficit hyperactivity disorde...	ORPHA:261197
Ermine Phenotype	Hypopigmentation of hair, Short stature, Ocular albinism, Hypopigmented skin patches, Hypotonia, ...	ORPHA:999
Wiedemann-Rautenstrauch Syndrome	Hypertonia, Hypoplasia of the thymus, Generalized hypotonia, Intention tremor, Absent eyebrow, Al...	OMIM:264090
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Ataxia, Tremor, Spastic paraplegia, Xerostomia, Babinski sign, Dysmetria, Spasticity	OMIM:618527
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Hypopigmented skin patches, Hypertonia, Gait disturbance, Multiple cafe...	ORPHA:3214
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Tremor, Hypotonia, Dehydration, Hyperammonemia, Vomiting, Hyperglycinemia...	OMIM:251100
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Cryptorchidism, Spastic tetraparesis, Dystonia	ORPHA:404451
Purine Nucleoside Phosphorylase Deficiency	Ataxia, Hypouricemia, Increased circulating guanosine concentration, Tremor, Hypotonia, Spastic d...	OMIM:613179
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Intestinal obstruction, Synophrys, Hypopig...	ORPHA:3440
Intellectual Developmental Disorder, Autosomal Dominant 42	Limb dystonia, Dystonia, Cerebral palsy, Aggressive behavior, Inability to walk, Hypotonia, Phoni...	OMIM:616973
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Mucoepithelial Dysplasia, Hereditary	Alopecia, Chronic diarrhea, Melena, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chr...	OMIM:158310
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Hyperthyroidism, Primary adrenal insufficiency, Thymoma, Type II diabetes mellitus, Ste...	OMIM:269200
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Sparse eyelashes, Edema, Polyhydramnios, Sparse eyebrow, Postnatal growth retardation...	OMIM:302960
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypospadias, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Anonychi...	OMIM:106260
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Hypospadias, Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorch...	ORPHA:96182
Hutchinson-Gilford Progeria Syndrome	Growth delay, Alopecia	OMIM:176670
Coach Syndrome 1	Ataxia, Hypotonia, Growth delay, Generalized hypotonia, Dystonia, Oculomotor apraxia, Spasticity	OMIM:216360
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Hyperconvex fingernails, Alopecia, Hypoplastic fingernail	ORPHA:257
Mitochondrial Dna-Associated Leigh Syndrome	Ataxia, Chorea, Low plasma citrulline, Dysphagia, Gait ataxia, Pigmentary retinopathy, Hypertonia...	ORPHA:255210
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Dystonia, Ataxia, Head titubation, Dysmetria, Inflammation of the large intestine, Rectovaginal f...	OMIM:619708
Encephalitis Lethargica	Bradycardia	ORPHA:83600
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Alopecia, Gastritis, Xerostomia, Joint swelling, Gastroesophageal re...	ORPHA:809
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Precocious puberty, Disproportionate short stature, Hypopigmented skin patches, Fine hair, Attent...	ORPHA:2637
Proximal Spinal Muscular Atrophy	Bradycardia	ORPHA:70
Omenn Syndrome	Hypoproteinemia, Alopecia, Hypoplasia of the thymus, Diarrhea	OMIM:603554
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia	OMIM:618282
Fibrous Dysplasia Of Bone	Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Testicular neoplasm, Elevated ...	ORPHA:249
Serotonin Syndrome	Restlessness, Clonus, Tremor, Rigidity, Diarrhea, Hyperhidrosis, Hypertonia, Agitation, Myoclonus...	ORPHA:43116
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Hyperpigmentation of the skin, Depigmentation/hyperpigmentation of skin, Generalized re...	ORPHA:79396
Rothmund-Thomson Syndrome	Calcinosis, Sparse eyelashes, Alopecia totalis, Short stature, Sparse eyebrow, Facial edema, Diar...	ORPHA:2909
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Sparse hair	OMIM:607626
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Sparse hair, Patchy alopecia, Hypothyroidism, Short stature	OMIM:617763
Nmda Receptor Encephalitis	Ovarian teratoma, Dystonia, Oculogyric crisis, Involuntary movements, Neoplasm of the thymus, Hyp...	ORPHA:217253
Leber Optic Atrophy	Postural tremor, Ataxia, Dystonia	OMIM:535000
Kleefstra Syndrome Due To A Point Mutation	Short stature, Precocious puberty, Hypotonia, Self-injurious behavior, Gastroesophageal reflux	ORPHA:261652
Mitochondrial Complex I Deficiency, Nuclear Type 2	Increased serum pyruvate, Hypotonia, Ankle clonus, Falls, Difficulty walking, Dystonia	OMIM:618222
Chédiak-Higashi Syndrome	Hyponatremia, Abnormality of retinal pigmentation, Hypopigmentation of hair, Hypertriglyceridemia...	ORPHA:167
Orofaciodigital Syndrome Type 1	Alopecia, Brittle hair, Ataxia, Tremor, Coarse hair, Dystonia, Sparse hair, Exocrine pancreatic i...	ORPHA:2750
Chromosome 18P Deletion Syndrome	Short stature, Cryptorchidism, Hypotonia, Gonadal dysgenesis, Dystonia, Micropenis, Decreased tes...	OMIM:146390
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Absent eyelashes, Oligohydramnios, Absent toenail, Absent fingernail, Congenital ...	ORPHA:158687
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Proportionate short stature, Abnormality of hair texture, Sparse eyeb...	ORPHA:2108
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Short stature, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scal...	ORPHA:35173
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of the skin, Hypopigmentation of hair, Neonatal hypotonia, Hypogonadotropic hypo...	ORPHA:177907
Autosomal Recessive Spastic Paraplegia Type 35	Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Bowel incontinence, Spastic pa...	ORPHA:171629
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Short stature, Cryptorchidism, Growth delay, Gastroesophageal reflux, Dystonia, Neonatal hypotonia	ORPHA:457193
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Sparse scalp hair, Hypospadias, Precocious puberty, Postnatal growth retardation, Disproportionat...	OMIM:210720
Porphyria, Congenital Erythropoietic	Absent eyebrow, Alopecia, Short stature, Loss of eyelashes, Elevated circulating uroporphyrin con...	OMIM:263700
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia	OMIM:126320
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Nail dystrophy, Onychogryposis	ORPHA:79395
Bartsocas-Papas Syndrome 1	Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent external genitalia, Bilater...	OMIM:263650
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Bleeding Disorder, Platelet-Type, 21	Alopecia	OMIM:617443
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Chronic diarrhea, Thyroiditis, Patchy alopecia, Type I diabetes mellitus, Hypothyroidism, Alopeci...	OMIM:606367
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Alopecia totalis	OMIM:300918
Arthrogryposis Multiplex Congenita 5	Death in infancy, Polyhydramnios, Akinesia, Hand tremor, Growth delay, Hypertonia, Generalized hy...	OMIM:618947
Ollier Disease	Precocious puberty	ORPHA:296
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Short stature, Hypoplasia of the ovary, Azotemia, Intrauterine growth retardation, Micr...	OMIM:619321
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Gastroesophageal reflux, Hypothyroidism, Short stature, Precocious puberty, Cryptorchidism, Abnor...	ORPHA:438213
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Tremor, Cystathioninuria, Hypotonia, Hyperhomocystinem...	OMIM:277400
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Death in infancy, Dystonia, Hypospadias, Ataxia, Highly arched eyebrow, Tremor, Low anterior hair...	OMIM:220111
Beta-Ureidopropionase Deficiency	Bifid scrotum, Elevated circulating N-carbamyl-beta-alanine concentration, Hypotonia, Dystonia, N...	OMIM:613161
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Short stature, Decreased response to gr...	OMIM:146510
Classical-Like Ehlers-Danlos Syndrome Type 2	Alopecia, Diabetes mellitus, Hypertriglyceridemia, Pericardial effusion, Cryptorchidism, Hypotonia	ORPHA:536532
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Short stature, Cryptorchidism, Spastic tetraplegia, Hypotonia, Hypertonia, Dystonia, Neonatal death	OMIM:620024
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Precocious puberty, Cryptorchidism, Encopresis, Unsteady gait, Hypotonia, Gastroesophageal reflux...	OMIM:616682
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyebrow, Alopecia, Subungual hyperkeratosis, Hypospadias, Sparse scalp hair, Short stature...	OMIM:308205
Bohring-Opitz Syndrome	Intrauterine growth retardation, Short stature, Bradycardia	ORPHA:97297
Rothmund-Thomson Syndrome Type 2	Calcinosis, Short stature, Alopecia totalis, Hyperpigmentation of the skin, Facial edema, Cryptor...	ORPHA:221016
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Broad-based gait, Facial hypotonia, Severe muscular hypotonia, Atax...	ORPHA:438216
Hermansky-Pudlak Syndrome 10	Axial hypotonia, Albinism, Ocular albinism, Generalized hypotonia, Dystonia	OMIM:617050
Turner Syndrome Due To Structural X Chromosome Anomalies	Lymphedema, Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inflamm...	ORPHA:99413
Mosaic Monosomy X	Lymphedema, Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inflamm...	ORPHA:99228
Monosomy X	Lymphedema, Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inflamm...	ORPHA:99226
Turner Syndrome	Lymphedema, Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inflamm...	ORPHA:881
Olmsted Syndrome 2	Sparse hair, Woolly hair, Alopecia universalis	OMIM:619208
Fibrodysplasia Ossificans Progressiva	Alopecia	OMIM:135100
Aicardi-Goutières Syndrome	Diabetes mellitus, Short stature, Extrapyramidal muscular rigidity, Axial hypotonia, Dystonia, Tr...	ORPHA:51
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Short stature, Hypospadias, Highly arched eyebrow, Ataxia, Cryptorchidism, Inability to walk, Hyp...	OMIM:620083
Cerebrotendinous Xanthomatosis	Resting tremor, Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Palatal tremor, Paraparesis,...	ORPHA:909
Encephalocraniocutaneous Lipomatosis	Alopecia, Paralysis, Abnormal eyelash morphology, Rigidity, Tetraplegia, Hemiparesis, Hypertonia,...	ORPHA:2396
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Paroxysmal dystonia, Abnormal repetitive mannerisms, Involuntary movements, Attention deficit hyp...	ORPHA:98784
Ring Chromosome 13 Syndrome	Bifid scrotum, Alopecia, Hypospadias, Growth delay, Abnormality of skin pigmentation, Primary hyp...	ORPHA:96176
Fucosidosis	Anhidrosis, Short stature, Spastic tetraplegia, Hypotonia, Dystonia, Hemiplegia, Spastic gait, Th...	OMIM:230000
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Centrifugal Lipodystrophy	Alopecia	ORPHA:90156
Chediak-Higashi Syndrome	Hypopigmentation of hair, Ataxia, Tremor, Silver-gray hair, Ocular albinism, Giant melanosomes in...	OMIM:214500
Gapo Syndrome	Alopecia, Sparse eyelashes, Sparse eyebrow, Growth delay, Hypoplastic nipples, Nail dysplasia, Sp...	OMIM:230740
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing...	ORPHA:79102
Limb-Mammary Syndrome	Alopecia, Absent nipple, Sparse eyebrow, Hypohidrosis, Bilateral breast hypoplasia, Multiple cafe...	ORPHA:69085
Tyrosinemia Type 2	Tremor, Ataxia, Abnormality of the nail, Hyperhidrosis	ORPHA:28378
Gabriele-De Vries Syndrome	Waddling gait, Facial hypotonia, Decreased response to growth hormone stimulation test, Oral-phar...	ORPHA:506358
Linear Nevus Sebaceus Syndrome	Alopecia, Hypotonia, Melanocytic nevus, Growth delay, Irregular hyperpigmentation	ORPHA:2612
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Panhypopituitarism, Vomiting, Gastroesopha...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Panhypopituitarism, Vomiting, Gastroesopha...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Panhypopituitarism, Vomiting, Gastroesopha...	ORPHA:93924
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Panhypopituitarism, Vomiting, Gastroesopha...	ORPHA:220386
Slc39A8-Cdg	Short stature, Severe muscular hypotonia, Abnormal blood zinc concentration, Inability to walk, D...	ORPHA:468699
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Hypertriglyceridemia, Absent eyelashes, Pulmonary carcinoid tumor, Premature gray...	ORPHA:363618
Multiple System Atrophy 1, Susceptibility To	Anhidrosis, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Hypohidrosis, Bradykinesia	OMIM:146500
Distal Deletion 19P	Alopecia, Vaginal hernia, Hypotonia, Thick eyebrow	ORPHA:96129
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Short stature, Gastritis, Bloody diarrhea, Colitis, Hypop...	ORPHA:84064
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Alopecia, Severe short stature, Rigidity, Cryptorchidism, Loss of eyelashes, Abnormal circulating...	ORPHA:2636
Severe Generalized Junctional Epidermolysis Bullosa	Growth delay, Dilated cardiomyopathy, Bradycardia, Abnormal blood ion concentration	ORPHA:79404
Autosomal Dominant Robinow Syndrome	Abnormal penis morphology, Hypoplasia of penis, Alopecia, Hypospadias, Short stature, Curly eyela...	ORPHA:3107
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n...	OMIM:203300
Holoprosencephaly	Hyponatremia, Hypoplasia of penis, Diabetes mellitus, Highly arched eyebrow, Cryptorchidism, Syno...	ORPHA:2162
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Hypertonia, Vomiting, Gastroesophageal reflux, Generalized hypotoni...	OMIM:270400
Paternal Uniparental Disomy Of Chromosome 6	Neonatal insulin-dependent diabetes mellitus, Precocious puberty, Cryptorchidism, Labial hypertro...	ORPHA:96191
Aicardi Syndrome	Abnormality of retinal pigmentation, Precocious puberty, Hemiplegia/hemiparesis, Hypotonia, Abnor...	ORPHA:50
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Vici Syndrome	Hypopigmentation of hair, Elevated circulating creatine kinase concentration, Albinism, Postnatal...	OMIM:242840
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Premature thelarche, Hypertonia, Gastroeso...	ORPHA:268261
Pseudo-Torch Syndrome 1	Spasticity, Axial hypotonia, Hypotonia, Dystonia	OMIM:251290
Neurofibromatosis Type 1	Abnormal hair quantity, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Short...	ORPHA:636
Encephalocraniocutaneous Lipomatosis	Cryptorchidism, Alopecia, Linear hyperpigmentation	OMIM:613001
Rubinstein-Taybi Syndrome 1	Premature thelarche, Polyhydramnios, Bilateral cryptorchidism, Low anterior hairline, Papillary c...	OMIM:180849
Faundes-Banka Syndrome	Sparse scalp hair, Premature thelarche, Fetal ascites, Hypoplastic toenails, Cryptorchidism, Hypo...	OMIM:619376
Chronic Graft Versus Host Disease	Alopecia, Anorexia, Phimosis, Diarrhea, Xerostomia, Abnormality of skin pigmentation, Ascites, On...	ORPHA:99921
Ectodermal Dysplasia-Skin Fragility Syndrome	Short stature, Chronic diarrhea, Hypohidrosis, Nail dystrophy, Anoperineal fistula, Difficulty wa...	ORPHA:158668
Immunodeficiency 7	Diarrhea, Patchy alopecia, Vitiligo	OMIM:615387
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Tuberous Sclerosis 1	Precocious puberty, Hypomelanotic macule, Attention deficit hyperactivity disorder, Preauricular ...	OMIM:191100
Autosomal Recessive Robinow Syndrome	Death in infancy, Alopecia, Hypoplasia of penis, Cryptorchidism, Long eyelashes, Fingernail dyspl...	ORPHA:1507
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Broad-based gait, Short stature, Ataxia, Diarrhea, Hypotonia, Growth delay, Vomiting, Dystonia, L...	OMIM:256810
Leprosy	Absent eyebrow, Alopecia, Testicular mass, Loss of eyelashes, Hypohidrosis, Abnormality of the ad...	ORPHA:548
Arboleda-Tham Syndrome	Axial hypotonia, Dystonia, Freckling, Highly arched eyebrow, Bilateral cryptorchidism, Hypotonia,...	OMIM:616268
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Few cafe-au-lait spots, Nail-biting, Broad-based gait, Small scrotum, Aggressive behavior, Hair-p...	OMIM:620330
Legius Syndrome	Hyperactivity, Inguinal freckling, Short stature, Axillary freckling, Hypotonia, Ovarian neoplasm...	ORPHA:137605
Diffuse Cutaneous Mastocytosis	Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis	ORPHA:79456
Carpenter Syndrome 1	Precocious puberty, Cryptorchidism, Short stature, External genital hypoplasia	OMIM:201000
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hypopigmentation of the skin, Aggressive behavior, Precocious puberty, Synophrys, Hypotonia, Chro...	OMIM:301066
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Premature thelarche, Polycystic ovaries, Type I diabetes mellitus, Nodular goiter, Hirsutism	ORPHA:371428
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent eyebrow, Alopecia, Thin fingernail, Severe short stature, Abnormal eyelash morphology, Cry...	ORPHA:2273
Kikuchi-Fujimoto Disease	Alopecia, Ataxia, Palpebral edema, Anorexia, Elevated circulating C-reactive protein concentratio...	ORPHA:50918
Focal Dermal Hypoplasia	Abnormality of skin pigmentation, Alopecia, Gastroesophageal reflux, Abnormality of the nail	ORPHA:2092
Carney Complex	Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma...	ORPHA:1359
Scorpion Envenomation	Restlessness, Acute pancreatitis, Hemifacial spasm, Ataxia, Increased circulating NT-proBNP conce...	ORPHA:466677
Bloom Syndrome	Diabetes mellitus, Sparse eyelashes, Paronychia, Oligozoospermia, Growth delay, Azoospermia, Seve...	ORPHA:125
Orofaciodigital Syndrome I	Dry hair, Alopecia, Short stature, Ovarian cyst, Sparse hair	OMIM:311200
Idiopathic Camptocormia	Parkinsonism, Elevated circulating creatine kinase concentration, Dystonia	ORPHA:1320
Pallister-Killian Syndrome	Small scrotum, Edema of the dorsum of feet, Polyhydramnios, Hyperpigmented streaks, Hypertonia, H...	OMIM:601803
Autoimmune Lymphoproliferative Syndrome	Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl...	ORPHA:3261
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Hypopigmentation of hair, Hypospadias, Short stature, Rhizomelia, Polyhydram...	ORPHA:818
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri...	ORPHA:79431
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Axial hypotonia, Dystonia, Diarrhea, Tetraplegia, Myoclonus, Unconjugated hyperbilirubinemia, Dea...	OMIM:618278
Combined Oxidative Phosphorylation Deficiency 29	Spasticity, Generalized hypotonia, Dystonia	OMIM:616811
Degcags Syndrome	Polyhydramnios, Oral-pharyngeal dysphagia, Synophrys, Low anterior hairline, Vocal cord paralysis...	OMIM:619488
Williams Syndrome	Hypoplasia of penis, Elevated circulating creatine kinase concentration, Hypoplastic toenails, Pe...	ORPHA:904
Myhre Syndrome	Abnormal penis morphology, Severe short stature, Hypospadias, External genital hypoplasia, Precoc...	ORPHA:2588
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary insufficiency, Bradycardia	OMIM:614437
Menkes Disease	Gastrointestinal hemorrhage, Hypopigmentation of hair, Chorea, Hypotonia, Hypertonia, Sparse hair...	ORPHA:565
Localized Scleroderma	Abnormal skin adnexa morphology, Hypopigmented skin patches, Patchy alopecia, Gastroesophageal re...	ORPHA:90289
Floating-Harbor Syndrome	Speech apraxia, Restlessness, Broad-based gait, Hypospadias, Short stature, Impulsivity, Aggressi...	ORPHA:2044
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, Hypotonia, Gastroeso...	ORPHA:369837
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer c...	OMIM:301074
Brittle Cornea Syndrome	Neonatal hypotonia, Gait disturbance, Abnormality of hair pigmentation	ORPHA:90354
Sarcoidosis	Hypopigmentation of the skin, Alopecia, Hyperthyroidism, Diabetes insipidus, Hyperpigmentation of...	ORPHA:797
Tuberous Sclerosis 2	Precocious puberty, Hypomelanotic macule, Attention deficit hyperactivity disorder, Cafe-au-lait ...	OMIM:613254
Kabuki Syndrome	Hypoplasia of penis, Hypospadias, Short stature, Highly arched eyebrow, Precocious puberty, Crypt...	ORPHA:2322
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Hypopigmentation of hair, Partial albinism, Anorexia, Ocular albinis...	ORPHA:79430
Wolcott-Rallison Syndrome	Iron deficiency anemia, Lymphocytosis, Neutropenia	ORPHA:1667
Hutchinson-Gilford Progeria Syndrome	Absent eyebrow, Female hypogonadism, Alopecia totalis, Decreased serum leptin, Hypermelanotic mac...	ORPHA:740
Sympathetic Ophthalmia	Macular edema, Alopecia, Vitiligo, Poliosis	ORPHA:79098
Wolf-Hirschhorn Syndrome	Hypospadias, Short stature, Highly arched eyebrow, Precocious puberty, Cryptorchidism, Low poster...	OMIM:194190
Pallister-Hall Syndrome	Small scrotum, Adrenal hypoplasia, Gonadotropin deficiency, Micropenis, Paroxysmal bursts of laug...	ORPHA:672
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Rhizomelia, Long eyelashes, Hypospadias	OMIM:615877
Adams-Oliver Syndrome 1	Alopecia, Supernumerary nipple, Hypotonia, Generalized hypotonia, Small nail, Imperforate hymen	OMIM:100300
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Lymphocytosis	ORPHA:139402
Aicardi Syndrome	Precocious puberty, Postnatal growth retardation, Hypotonia, Generalized hypotonia, Sparse latera...	OMIM:304050
Tolchin-Le Caignec Syndrome	Precocious puberty, Thick eyebrow, Hirsutism, Attention deficit hyperactivity disorder	OMIM:618971
Bifid Nose With Or Without Anorectal And Renal Anomalies	Precocious puberty, Rectovaginal fistula, Thick eyebrow	OMIM:608980
Scalp-Ear-Nipple Syndrome	Short stature, Palpebral edema, Sparse axillary hair, Sparse pubic hair, Fine hair, Hypohidrosis,...	OMIM:181270
Kabuki Syndrome 1	Short stature, Premature thelarche, Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Postna...	OMIM:147920
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Growth delay, Proportionate short stature, Type I diabetes mellitus	OMIM:619269
Viss Syndrome	Sparse scalp hair, Alopecia, Chronic gastritis, Short stature, Polyhydramnios, Chronic diarrhea, ...	OMIM:619472
Systemic Lupus Erythematosus	Alopecia, Chorea	ORPHA:536
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Limb dystonia, Elevated circulating creatine kinase concentration, Babinski sign, Hemiparesis, Te...	OMIM:175780
Relapsing Polychondritis	Alopecia, Recurrent aphthous stomatitis	ORPHA:728
Behcet Syndrome	Epididymitis, Patchy alopecia, Genital ulcers	OMIM:109650
17Q11 Microdeletion Syndrome	Abnormal central motor function, Short stature, Freckling, Hypermelanotic macule, Precocious pube...	ORPHA:97685
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume	OMIM:617718
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Sinus bradycardia	OMIM:619482
Vascular Ehlers-Danlos Syndrome	Alopecia, Hypospadias, Short stature, Abnormality of hair texture, Abnormal eyelash morphology, C...	ORPHA:286
Focal Dermal Hypoplasia	Ridged nail, Linear hyperpigmentation, Brittle hair, Short stature, Supernumerary nipple, Cryptor...	OMIM:305600
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Autosomal Recessive Cutis Laxa Type 1	Intrauterine growth retardation, Severe short stature, Dystonia	ORPHA:90349
Sponastrime Dysplasia	Rhizomelia, Hypospadias, Precocious puberty, Disproportionate short-limb short stature, Intrauter...	ORPHA:93357
Liver Disease, Severe Congenital	Thrombocytopenia, Splenomegaly, Leukopenia, Lymphocytosis, Anemia	OMIM:619991

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 Pts

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 Pts.

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

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MGI Allele	Allele Type	Produced
Pts^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Pts^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Pts^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Pts^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Pts^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Pts MGI:1338783

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

MicroCT E14.5-E15.5

X-ray

Adult LacZ

X-ray

Human diseases caused by Pts mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data