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Gene: Rora MGI:104661

Gene Summary

Name:

RAR-related orphan receptor alpha

Synonyms:

Nr1f1, 9530021D13Rik, tmgc26

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
increased circulating alkaline phosphatase level		Rora^{tm1b(EUCOMM)Wtsi}	HET		Early adult	9.79×10^-05
preweaning lethality, incomplete penetrance		Rora^{tm1b(EUCOMM)Wtsi}	HOM		Early adult	0.000176

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Brain	Wholemount images	heterozygote	100% (2 of 2)
Skin	Wholemount images	heterozygote	50% (1 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Blood	N/A	heterozygote	0.0% (0 of 2)
Bone marrow	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brainstem	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cecum	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Chest bone	N/A	heterozygote	0.0% (0 of 2)
Colon	N/A	heterozygote	0.0% (0 of 2)
Cranium	N/A	heterozygote	0.0% (0 of 2)
Diaphragm	N/A	heterozygote	0.0% (0 of 2)
Epididymis	N/A	heterozygote	Not available
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Harderian gland	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hindlimb	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	0.0% (0 of 2)
Hypothalamus	N/A	heterozygote	0.0% (0 of 2)
Kidney	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Main olfactory bulb	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	Not available
Mesenteric lymph node	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
Oral epithelium	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	Not available
Oviduct	N/A	heterozygote	Not available
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Parotid gland	N/A	heterozygote	0.0% (0 of 2)
Penis	N/A	heterozygote	Not available
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	Not available
Sciatic nerve	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach pyloric region	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Sublingual gland	N/A	heterozygote	0.0% (0 of 2)
Submandibular gland	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Tongue	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Trigeminal V nerve	N/A	heterozygote	0.0% (0 of 2)
Urinary bladder	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	Not available
Vagina	N/A	heterozygote	Not available
Vas deferens	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
Vesicular gland	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%
blood
bone	0.0%
bone marrow
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cecum	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
chest bone
colon
cranium
diaphragm	0.0%
epididymis	Unavailable
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
harderian gland
heart	0.0%
hindlimb	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%
main olfactory bulb	0.0%
mammary gland	0.0%
mesenteric lymph node
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
parotid gland	0.0%
penis	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
sciatic nerve	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
stomach pyloric region	0.0%
striatum	0.0%
sublingual gland	0.0%
submandibular gland	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
tongue	0.0%
trachea	0.0%
trigeminal v nerve	0.0%
urinary bladder
uterus	0.0%
vagina	0.0%
vas deferens	Unavailable
vascular system	0.0%
vesicular gland	Unavailable
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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

Electrocardiogram (ECG)

Waveform Image

4 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Adult LacZ

LacZ Images Wholemount

4 Images

View images

Human diseases caused by Rora 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 Rora (1 diseases)
Human diseases predicted to be associated with Rora (1666 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia		Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph...	OMIM:618060

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

Disease	Matching phenotypes	Source
Cerebellar Degeneration-Related Autoantigen 3	Abnormal cerebellum morphology	OMIM:602197
Muscle Cramps, Familial	Elevated circulating creatine kinase concentration	OMIM:158400
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Specific Language Impairment 2	Deficit in phonologic short-term memory	OMIM:606712
Specific Language Impairment 1	Deficit in phonologic short-term memory	OMIM:606711
7q11.23 duplication syndrome	Short attention span	DECIPHER:43
Presenile Dementia, Kraepelin Type	Dementia	OMIM:176600
Monoamine Oxidase A Deficiency	Cognitive impairment	ORPHA:3057
Plasma Fibronectin Deficiency	Reduced circulating fibronectin level	OMIM:614101
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant	Dementia, Cognitive impairment	OMIM:618564
Spinocerebellar Ataxia Type 15/16	Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato...	ORPHA:98769
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect, Type II lissencephaly, Cerebellar dysplasia	OMIM:615041
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Spinocerebellar Ataxia Type 31	Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity	ORPHA:217012
Spinocerebellar Atrophy With Pupillary Paralysis	Spinocerebellar atrophy	OMIM:183100
Spinocerebellar Ataxia Type 41	Cerebellar vermis atrophy	ORPHA:458798
Spinocerebellar Ataxia Type 5	Cerebellar atrophy, Incoordination, Slurred speech, Gait disturbance	ORPHA:98766
Cerebral Palsy, Ataxic, Autosomal Recessive	Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy, Broad-based gait	OMIM:605388
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Cerebellar vermis ...	OMIM:617018
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia, Cerebellar hypoplasia	OMIM:213000
Spinocerebellar Ataxia 41	Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy	OMIM:616410
Spinocerebellar Ataxia Type 38	Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia	ORPHA:423296
Spinocerebellar Ataxia 37	Cerebellar atrophy, Frequent falls, Ataxia, Tremor	OMIM:615945
Autosomal Recessive Spastic Paraplegia Type 32	Babinski sign, Impaired vibration sensation in the lower limbs, Abnormal pons morphology, Progres...	ORPHA:171622
Spinocerebellar Ataxia 45	Cerebellar atrophy, Limb ataxia, Gait ataxia	OMIM:617769
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Cerebellar atrophy, Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Trunca...	OMIM:615268
Spinocerebellar Ataxia Type 30	Limb ataxia, Cerebellar vermis atrophy, Gait ataxia	ORPHA:211017
Autosomal Spastic Paraplegia Type 30	Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Babinski sign, Scissor gait, Unsteady...	ORPHA:101010
Spinocerebellar Ataxia 30	Cerebellar atrophy	OMIM:613371
Spastic Paraplegia 32, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Babinski sign, Spastic paraplegia, Ankle clonus, Diffi...	OMIM:611252
Hydrocephaly-Cerebellar Agenesis Syndrome	Ataxia, Cerebellar agenesis	ORPHA:1397
Spinocerebellar Ataxia, Autosomal Recessive 24	Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia	OMIM:617133
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I	Cerebellar atrophy, Ataxia, Impaired distal proprioception, Babinski sign, Impaired distal vibrat...	OMIM:619742
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction	Cerebellar atrophy, Inability to walk, Ataxia	OMIM:619333
Spinocerebellar Ataxia 31	Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia	OMIM:117210
Periventricular Nodular Heterotopia 8	Periventricular nodular heterotopia, Cerebellar vermis atrophy, Spasticity	OMIM:618185
Spinocerebellar Ataxia 40	Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Pontocerebellar atrophy, Dysdiadochokinesis...	OMIM:616053
Joubert Syndrome 13	Molar tooth sign on MRI, Cerebellar vermis hypoplasia	OMIM:614173
Cerebellar Atrophy, Developmental Delay, And Seizures	Cerebellar atrophy	OMIM:617643
Chudley-Mccullough Syndrome	Hydrocephalus, Gray matter heterotopia, Cerebellar hypoplasia, Polymicrogyria, Cerebellar dysplasia	OMIM:604213
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Spinocerebellar Ataxia Type 26	Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi...	ORPHA:101112
Dystonia With Cerebellar Atrophy	Cerebellar atrophy, Torticollis, Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia	OMIM:611694
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency	Difficulty walking, Limb ataxia, Cerebellar vermis atrophy, Truncal ataxia	ORPHA:363432
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Epilepsy, Progressive Myoclonic 7	Cerebellar atrophy, Ataxia, Tremor, Myoclonus	OMIM:616187
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration	ORPHA:206599
Cerebellar Ataxia, Cayman Type	Intention tremor, Cerebellar hypoplasia, Truncal ataxia, Gait ataxia	OMIM:601238
Cerebellar Ataxia, Cayman Type	Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Nonprogressive cerebellar ataxia, Truncal a...	ORPHA:94122
Spinocerebellar Ataxia 35	Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ...	OMIM:613908
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella...	ORPHA:284332
Spinocerebellar Ataxia Type 20	Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma...	ORPHA:101110
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Cerebellar vermis atrophy	OMIM:615957
Epilepsy, Progressive Myoclonic, 11	Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Intention tremor	OMIM:618876
Spinocerebellar Ataxia, Autosomal Recessive 16	Cerebellar atrophy, Tremor, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar hypoplasia, Trun...	OMIM:615768
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen...	OMIM:610245
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal at...	ORPHA:363710
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity	Cerebellar atrophy, Spastic tetraplegia, Hypertonia, Lissencephaly, Pachygyria, Polymicrogyria	OMIM:618730
Microlissencephaly	Cerebellar atrophy, Subcortical heterotopia, Periventricular heterotopia, Simplified gyral patter...	ORPHA:1083
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet...	OMIM:616948
Microcephaly, Seizures, And Developmental Delay	Cerebellar atrophy, Ataxia, Simplified gyral pattern	OMIM:613402
Spinocerebellar Ataxia 18	Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Sodium-Dependent Multivitamin Transporter Deficiency	Cerebellar atrophy, Cerebral palsy, Hypoplasia of the pons, Spasticity, Polymicrogyria	OMIM:618973
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive	Cerebellar atrophy	OMIM:615596
Ceroid Lipofuscinosis, Neuronal, 11	Cerebellar atrophy, Ataxia	OMIM:614706
Spinocerebellar Ataxia, Autosomal Recessive 15	Cerebellar atrophy, Unsteady gait, Ataxia, Gait ataxia	OMIM:615705
Migraine, Familial Hemiplegic, 1	Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia	OMIM:141500
Spinocerebellar Ataxia, Autosomal Recessive 25	Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia	OMIM:617584
X-Linked Non Progressive Cerebellar Ataxia	Cerebellar vermis hypoplasia, Babinski sign, Clumsiness, Spastic dysarthria, Cerebellar hypoplasi...	ORPHA:314978
Ceroid Lipofuscinosis, Neuronal, 8	Cerebellar atrophy, Loss of ambulation, Ataxia, Myoclonus	OMIM:600143
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cerebellar v...	OMIM:616291
Spinocerebellar Ataxia 11	Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun...	OMIM:604432
Spinocerebellar Ataxia, Autosomal Recessive 12	Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Limb ataxia, Gait ataxia	OMIM:614322
Spinocerebellar Ataxia 12	Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi...	OMIM:604326
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Cerebellar atrophy, Broad-based gait, Simplified gyral pattern, Dysmetria, Gait ataxia, Dysdiadoc...	OMIM:224050
Autosomal Recessive Spastic Paraplegia Type 67	Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Limb tremor, D...	ORPHA:401820
Spinocerebellar Ataxia Type 35	Cerebellar atrophy, Torticollis, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Progressive ...	ORPHA:276193
Spinocerebellar Ataxia, Autosomal Recessive 6	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intention tremor	OMIM:608029
Dystonia 23	Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dys...	OMIM:614860
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor...	ORPHA:98762
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Aplasia/Hypoplasia of the cerebellum, Tremor, Abnormal pyramidal sign, Clumsiness, Dement...	ORPHA:79262
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Dysplastic corpus callosum, Inability to walk...	OMIM:618276
Lethal Congenital Contracture Syndrome 7	Cerebellar atrophy, Paralysis	OMIM:616286
Pparg-Related Familial Partial Lipodystrophy	Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Congestive heart failure, Sp...	ORPHA:79083
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a...	ORPHA:98763
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Ataxia, Tremor, Dysmetria	OMIM:617917
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A	Cerebellar atrophy, Lower limb spasticity, Ataxia, Progressive neurologic deterioration, Cerebral...	OMIM:613925
Spinocerebellar Ataxia 14	Cerebellar atrophy, Dysmetria, Gait ataxia, Focal dystonia, Progressive cerebellar ataxia, Attent...	OMIM:605361
Spastic Paraplegia 30, Autosomal Dominant	Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, ...	OMIM:610357
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Recurrent respiratory infections, Foam cells with lamell...	OMIM:607616
Spastic Ataxia 2, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri...	OMIM:611302
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Elevated circulating creatine kinase concentration	ORPHA:88635
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Confusion, Tremor, Babinski sign, Gait atax...	OMIM:615362
Epilepsy, Progressive Myoclonic, 8	Cerebellar atrophy, Progressive neurologic deterioration, Atrophy/Degeneration affecting the brai...	OMIM:616230
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy	Cerebellar atrophy, Spastic tetraparesis	OMIM:618741
Spinocerebellar Ataxia, Autosomal Recessive 4	Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata...	OMIM:607317
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Cerebellar atrophy, Truncal ataxia	OMIM:611726
Nescav Syndrome	Cerebellar atrophy, Appendicular spasticity, Ataxia, Inability to walk, Babinski sign, Spasticity...	OMIM:614255
Spinocerebellar Ataxia, X-Linked 1	Cerebellar atrophy, Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor fun...	OMIM:302500
Hypotrichosis 1	Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai...	OMIM:605389
Spinocerebellar Ataxia, Autosomal Recessive 17	Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Synophrys, ...	OMIM:616127
Spastic Ataxia-Corneal Dystrophy Syndrome	Spastic ataxia, Ataxia, Hemiplegia/hemiparesis, Gait disturbance, Aplasia/Hypoplasia of the cereb...	ORPHA:2572
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Lateral ventricle dilatation, Dementia, D...	OMIM:615889
Familial Partial Lipodystrophy, Dunnigan Type	Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Congestive heart failure, Ab...	ORPHA:2348
Spinocerebellar Ataxia, Autosomal Recessive 10	Cerebellar atrophy, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal a...	OMIM:613728
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro...	ORPHA:423275
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Dandy-Walker Syndrome	Dilated fourth ventricle, Agenesis of cerebellar vermis, Partial absence of cerebellar vermis, Hy...	OMIM:220200
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Ataxia-Tapetoretinal Degeneration Syndrome	Aplasia/Hypoplasia of the cerebellum, Ataxia, Gait disturbance	ORPHA:1178
Spinocerebellar Ataxia, Autosomal Recessive 14	Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent...	OMIM:615386
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ...	OMIM:614561
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ...	OMIM:615703
Spinocerebellar Ataxia 46	Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign	OMIM:617770
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Dysmetria, ...	OMIM:610185
Dentatorubral-Pallidoluysian Atrophy	Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Dementia, Myoclonu...	OMIM:125370
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	Cerebellar atrophy, Clumsiness	OMIM:610003
Spinocerebellar Ataxia, Autosomal Recessive 2	Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ...	OMIM:213200
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Ataxia, Parkinsonism, Abnormal cerebellum morphology, Abnormality of extrapyramidal motor functio...	OMIM:162350
Spastic Paraplegia, Ataxia, And Mental Retardation	Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Babinski sign, Impaired vi...	OMIM:607565
Lead Poisoning	Decreased HDL cholesterol concentration, Abnormal T cell morphology, Tubulointerstitial nephritis...	ORPHA:330015
Spinocerebellar Ataxia 13	Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Limb ataxia, Ga...	OMIM:605259
Spinocerebellar Ataxia, Autosomal Recessive 29	Cerebellar atrophy, Lower limb spasticity, Ataxia, Inability to walk, Cerebellar vermis atrophy	OMIM:619389
Huntington Disease-Like 1	Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai...	ORPHA:157941
Lissencephaly 3	Cerebellar vermis hypoplasia, Ataxia, Periventricular laminar heterotopia, Pachygyria, Spastic te...	OMIM:611603
Spastic Paraplegia 78, Autosomal Recessive	Impaired vibratory sensation, Cerebellar atrophy, Resting tremor, Ataxia, Parkinsonism, Babinski ...	OMIM:617225
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Huntington Disease	Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis	OMIM:143100
Mast Syndrome	Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Athetosis, Dysdiadochokine...	OMIM:248900
Pontocerebellar Hypoplasia, Type 1E	Cerebellar atrophy, Cerebellar hypoplasia, Hypoplasia of the pons	OMIM:619303
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Cerebellar vermis hypoplasia, Perisylvian polymicrogyria, Cerebellar hypoplasia, Cerebellar dyspl...	OMIM:616531
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia	ORPHA:284271
Tremor, Hereditary Essential, 6	Postural tremor, Kinetic tremor, Head tremor, Vocal tremor	OMIM:618866
Tremor, Hereditary Essential, 5	Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor	OMIM:616736
Spinocerebellar Ataxia 50	Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ...	OMIM:620158
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Abnormality of the sense of sm...	OMIM:146110
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri...	OMIM:256731
Spinocerebellar Ataxia 49	Cerebellar atrophy, Ataxia, Babinski sign, Unsteady gait, Dysmetria, Dysdiadochokinesis, Abnormal...	OMIM:619806
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine	Cerebellar atrophy	OMIM:618412
Autosomal Recessive Spastic Paraplegia Type 69	Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Hand tremor, Spastic dysarthr...	ORPHA:401830
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Rigidity, Inability to walk, Dysmetria,...	OMIM:618090
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gray matter heterot...	OMIM:615960
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Steppage gait	OMIM:618387
Pontocerebellar Hypoplasia, Type 2D	Cerebellar atrophy, Appendicular spasticity, Clonus, Chorea, Spastic tetraplegia, Cerebellar verm...	OMIM:613811
Spinocerebellar Ataxia, Autosomal Recessive 18	Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokin...	OMIM:616204
Congenital Cerebellar Ataxia Due To Rnu12 Mutation	Cerebellar atrophy, Broad-based gait, Gait ataxia, Poor fine motor coordination, Difficulty walki...	ORPHA:512260
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, ...	OMIM:300423
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal cent...	ORPHA:277
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Tremor, Spasticity, Babinski sign, Ataxia	OMIM:611105
X-Linked Progressive Cerebellar Ataxia	Babinski sign, Unsteady gait, Dysmetria, Clumsiness, Spastic dysarthria, Limb ataxia, Progressive...	ORPHA:1175
Joubert Syndrome 24	Ataxia, Dysmetria, Gait disturbance, Cerebellar hypoplasia, Spasticity, Pachygyria, Polymicrogyria	OMIM:616654
Spinocerebellar Ataxia 4	Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb...	OMIM:600223
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig...	ORPHA:284324
Spinocerebellar Ataxia 15	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Spinocerebellar Ataxia 26	Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia	OMIM:609306
Rapid-Onset Dystonia-Parkinsonism	Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dy...	ORPHA:71517
Spinocerebellar Ataxia, Autosomal Recessive 26	Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Unsteady...	OMIM:617633
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Abnormal py...	ORPHA:101070
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati...	OMIM:618944
3-Methylglutaconic Aciduria, Type Iv	Cerebellar dysplasia	OMIM:250951
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Dystonia, Unsteady gait, Slurred speech, Babinski sign, Dysmetria, ...	ORPHA:453521
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Foam cells, Decreased ci...	OMIM:619802
Spinocerebellar Ataxia 27B, Late-Onset	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia	OMIM:620174
Spinocerebellar Ataxia 19	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer...	OMIM:607346
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Ataxia, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Dysmetria, Gait ...	OMIM:617145
Alstrom Syndrome	Decreased HDL cholesterol concentration, Hepatic steatosis, Hypertriglyceridemia, Hypergonadotrop...	OMIM:203800
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
L-2-Hydroxyglutaric Aciduria	Cerebellar atrophy, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Abnormality of extrapy...	OMIM:236792
Spinocerebellar Ataxia 17	Cerebellar atrophy, Broad-based gait, Dystonia, Ataxia, Confusion, Parkinsonism, Diffuse cerebral...	OMIM:607136
Spinocerebellar Ataxia 44	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls	OMIM:617691
Spinocerebellar Ataxia, Autosomal Recessive 13	Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid...	OMIM:614831
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Spinocerebellar Ataxia 48	Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, ...	OMIM:618093
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia...	ORPHA:521406
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Spinocerebellar Ataxia Type 17	Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Writer's cramp, Rig...	ORPHA:98759
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy	Cerebellar atrophy, Spasticity, Ataxia, Spastic tetraplegia	OMIM:617207
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Tremor, Spastic paraplegia	OMIM:309560
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Ataxia, Cerebral atrophy, Neurodegeneration, Mental deterioration	OMIM:610951
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hepatic steatosis, Hypertri...	ORPHA:280365
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Choreoathetosis, Positive Romberg sign, Los...	OMIM:618088
Spinocerebellar Ataxia, Autosomal Recessive 27	Cerebellar atrophy, Spastic ataxia, Torticollis, Gait ataxia, Lower limb hypertonia, Gait disturb...	OMIM:618369
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Cerebellar atrophy, Ataxia	OMIM:618879
Spinocerebellar Ataxia Type 29	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb...	ORPHA:208513
Cerebellar Atrophy With Seizures And Variable Developmental Delay	Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia, Cerebellar vermis atrophy	OMIM:618501
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,...	ORPHA:352403
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa...	OMIM:128230
Witkop Syndrome	Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair	OMIM:189500
Spastic Paraplegia 85, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Torticollis, Impaired vibratory sensation, Impaired te...	OMIM:619686
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Cerebellar vermis hypoplasia, Periventricular heterotopia, Inability to walk, Unsteady gait, Simp...	OMIM:618273
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Leukodystrophy, Hypomyelinating, 11	Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity	OMIM:616494
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Ataxia, Inability to walk, Oculomotor apraxia, Cerebellar vermis atrophy, Dysmetria, Cerebellar h...	OMIM:618087
Sandhoff Disease, Adult Form	Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity	ORPHA:309169
Spinocerebellar Ataxia 29	Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Limb ...	OMIM:117360
Spinocerebellar Ataxia, Autosomal Recessive 11	Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy	OMIM:614229
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Distal sensory impairment	OMIM:614369
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myocl...	OMIM:619028
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Lymphadenopathy, He...	OMIM:618982
Gordon Holmes Syndrome	Cerebellar atrophy, Chorea, Ataxia	OMIM:212840
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Cerebellar atrophy, Ataxia, Difficulty walking	OMIM:619425
Spinocerebellar Ataxia, Autosomal Recessive 21	Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia...	OMIM:616719
Spinocerebellar Ataxia Type 2	Postural tremor, Abnormal cortical gyration, Parkinsonism, Olivopontocerebellar hypoplasia, Kinet...	ORPHA:98756
Developmental And Epileptic Encephalopathy 37	Cerebellar atrophy, Rigidity, Chorea, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements,...	OMIM:616981
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad...	OMIM:213600
Spinocerebellar Ataxia 5	Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme...	OMIM:600224
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cerebral vasculitis, Recurrent sinopulmonary infections, Eczema, Subarachnoid hemorrhage, Eosinop...	OMIM:243700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Cerebellar hypoplasia, Polymicrogyri...	OMIM:615181
Spastic Paraplegia 46, Autosomal Recessive	Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Babinski sign, Impaired ...	OMIM:614409
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Tremor, Ataxia, Cerebellar hypoplasia, Limb dystonia	OMIM:620270
Spinocerebellar Ataxia 8	Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi...	OMIM:608768
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Spinocerebellar Ataxia 42	Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm...	OMIM:616795
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar...	ORPHA:2722
Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Dystonia, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Cho...	ORPHA:79263
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Loss of ambulation	OMIM:617916
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Increased circulating IgE level, Recurrent pneumonia, Coarctation of aorta, Hypertension...	OMIM:616069
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Lower limb spasticity, Cerebellar ve...	ORPHA:98
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Dilated fourth ventricle, Torticollis, Ataxia, Babinski sign, Choreoathetosis, Frequent falls, Ce...	OMIM:619054
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Pain insensitivity, Ataxia, Impaired distal proprioception, Impaired vibration sensation in the l...	ORPHA:94124
Spinocerebellar Ataxia 28	Cerebellar atrophy, Somatic sensory dysfunction, Parkinsonism, Babinski sign, Limb ataxia, Gait a...	OMIM:610246
Aspergillosis	Sinusitis, Intracranial hemorrhage, Cough, Neutropenia, Infectious encephalitis, Chronic pulmonar...	ORPHA:1163
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal)	Frontal polymicrogyria, Broad-based gait, Hypoplasia of the pons, Perisylvian polymicrogyria, Bab...	OMIM:606854
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H...	ORPHA:370022
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Dandy-Walker malformation, Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, ...	OMIM:613153
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordi...	ORPHA:1170
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Chiari type I malformation, Bradykinesia, Dystonia	OMIM:617836
Spinocerebellar Ataxia, Autosomal Recessive 32	Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ...	OMIM:619862
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Tremor, Inab...	OMIM:128100
Juvenile Huntington Disease	Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progre...	ORPHA:248111
Cholesterol-Ester Transfer Protein Deficiency	Precocious atherosclerosis, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholest...	ORPHA:79506
Pontocerebellar Hypoplasia, Type 1A	Ataxia, Hypoplasia of the pons, Limb ataxia, Hand tremor, Degeneration of anterior horn cells, Hy...	OMIM:607596
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Impaired distal proprioception, Distal ...	OMIM:607250
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, In...	ORPHA:98813
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Di...	ORPHA:98764
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Focal polymicrogyria, Subcortical...	OMIM:615771
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal...	OMIM:617672
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk...	OMIM:619632
Parkinsonism-Dystonia 3, Childhood-Onset	Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys...	OMIM:619738
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Thick eyebrow, Cerebellar vermis hypoplasia, Ataxia, Low anterior hairline, Long eyelashes, Cereb...	OMIM:616819
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Atrophy/Degeneration aff...	OMIM:612319
Hypoalphalipoproteinemia, Primary, 1	Decreased HDL cholesterol concentration, Myocardial infarction, Premature coronary artery atheros...	OMIM:604091
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy...	ORPHA:139485
Spinocerebellar Ataxia Type 19/22	Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog...	ORPHA:98772
Glycosylphosphatidylinositol Biosynthesis Defect 15	Cerebellar atrophy, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Apr...	OMIM:617810
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Cerebellar atrophy, Ataxia, Progressive neurologic deterioration, Synophrys, Gait disturbance, Hy...	ORPHA:85317
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Depressed nasal bridge, Eczema, Decreased proportion of CD8-positive T cells, Increased circulati...	OMIM:617241
Boucher-Neuhauser Syndrome	Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Abnormal upper motor neuron mor...	OMIM:215470
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Progressive neurologic deterioration, Cryptorchidism, Arterial stenosis, Cerebral artery atherosc...	ORPHA:1192
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Crome Syndrome	Cerebellar dysplasia	OMIM:218900
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Chronic oral candidiasis, Recurrent respiratory infections, Osteomyelitis, Recurrent skin infecti...	OMIM:618282
Spinocerebellar Ataxia, X-Linked 5	Ataxia, Action tremor	OMIM:300703
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Cerebellar atrophy, Inability to walk, Ataxia, Gait ataxia	OMIM:617915
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy	Cerebellar atrophy, Limb dystonia, Torticollis, Head titubation, Abnormal pyramidal sign, Limb at...	OMIM:617560
Episodic Ataxia Type 6	Cerebellar atrophy, Slurred speech, Ataxia, Hemiplegia	ORPHA:209967
Schimke Immuno-Osseous Dysplasia	Impaired T cell function, Neutropenia, Depressed nasal bridge, Minimal change glomerulonephritis,...	ORPHA:1830
Stxbp1-Related Encephalopathy	Ataxia, Tremor, Inability to walk, Dysplastic corpus callosum, Spastic tetraplegia, Dystonia, Spa...	ORPHA:599373
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Bronchiectasis, Atopic dermatit...	OMIM:617638
Joubert Syndrome 23	Cerebellar dysplasia	OMIM:616490
Neuroectodermal Melanolysosomal Disease	Ataxia, Tremor, Rigidity, Optic atrophy, Hypertonia, Cerebellar hypoplasia, Spasticity, Abnormal ...	ORPHA:33445
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Cerebellar atrophy, Spastic ataxia, Impaired distal proprioception, Tremor, Abnormal cerebellum m...	ORPHA:137898
Hypotrichosis 9	Sparse scalp hair, Sparse body hair	OMIM:614237
Hypotrichosis 10	Sparse eyebrow, Sparse eyelashes, Sparse body hair	OMIM:614238
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Cerebellar atrophy, Dystonia, Ataxia, Dysesthesia, Head titubation, Abnormal pyramidal sign, Cere...	ORPHA:527497
Spastic Paraplegia 39, Autosomal Recessive	Cerebellar atrophy, Ataxia, Babinski sign, Gait disturbance, Progressive spastic paraplegia	OMIM:612020
Igg4-Related Aortitis	Increased inflammatory response, Thoracic aortic aneurysm, Elevated circulating C-reactive protei...	ORPHA:449400
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis	OMIM:158580
Spastic Ataxia 3, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Cognitive impairment, Dystoni...	OMIM:611390
Werner Syndrome	Telangiectasia of the skin, Myocardial infarction, Abnormal cerebral vascular morphology, Congest...	ORPHA:902
Behr Syndrome	Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Gait disturbance, Pr...	OMIM:210000
Leukoencephalopathy With Dystonia And Motor Neuropathy	Hyposmia, Azoospermia, Hypergonadotropic hypogonadism, Elevated circulating pristanic acid concen...	OMIM:613724
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration, Atherosclerosis	OMIM:603813
Microcephaly 10, Primary, Autosomal Recessive	Cerebellar atrophy, Simplified gyral pattern, Hypertonia, Cerebellar hemisphere hypoplasia, Glios...	OMIM:615095
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Ataxia, Babinski sign, Impaired vibration sensation in the lower limbs, Unste...	OMIM:159550
Dystonia 11, Myoclonic	Tremor, Torticollis, Writer's cramp, Myoclonus	OMIM:159900
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat...	ORPHA:251282
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Shukla-Vernon Syndrome	Cerebellar atrophy, Broad-based gait, Sparse hair, Attention deficit hyperactivity disorder	OMIM:301029
Mucolipidosis Iv	Cerebellar atrophy, Progressive neurologic deterioration, Dysplastic corpus callosum, Babinski si...	OMIM:252650
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Hyposmia, Hypogonadotropic hypogonadism	OMIM:615266
Beta-Propeller Protein-Associated Neurodegeneration	Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Bradykinesia, Dement...	ORPHA:329284
Episodic Ataxia, Type 6	Cerebellar atrophy, Slurred speech, Hemiparesis, Cerebellar hypoplasia, Truncal ataxia, Episodic ...	OMIM:612656
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Abnormal lymphocy...	OMIM:613953
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ...	OMIM:212050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Inability to walk, Hydrocephalus, Cerebellar hypoplasia, Cerebellar...	OMIM:613155
Spinocerebellar Ataxia 32	Cerebellar atrophy, Ataxia	OMIM:613909
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Hypertension, Myocardial infarction, Premature coronary artery atherosclerosis	OMIM:608320
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Frequent falls, Hemiballismus	ORPHA:494526
Spinocerebellar Ataxia Type 1	Chorea, Impaired proprioception, Dysmetria, Abnormal nerve conduction velocity, Abnormal brainste...	ORPHA:98755
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R...	OMIM:300400
Autoimmune Lymphoproliferative Syndrome	Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas...	ORPHA:3261
Spinocerebellar Ataxia, Autosomal Recessive 8	Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Abnormality of extrapyramidal motor func...	OMIM:610743
Autosomal Spastic Paraplegia Type 58	Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ...	ORPHA:397946
Joubert Syndrome 25	Molar tooth sign on MRI, Cerebellar hypoplasia	OMIM:616781
Spinal Muscular Atrophy, Jokela Type	Tremor, Fasciculations, Distal sensory impairment	OMIM:615048
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Oculogyric crisis, Tremor, Inability to walk, Optic atrophy, Difficulty walki...	ORPHA:330050
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Oculom...	OMIM:208920
Spastic Paraplegia 7, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Waddling gait, Lower limb spasticity, Degeneration of the lat...	OMIM:607259
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Abnormal eyelash morphology, Memory impairment, Sparse body hair, Alopecia uni...	ORPHA:1008
Spinocerebellar Ataxia Type 32	Cerebellar atrophy, Progressive cerebellar ataxia	ORPHA:276183
Spinocerebellar Ataxia Type 21	Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor...	ORPHA:98773
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Babinski sign, Slurred s...	ORPHA:93952
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Parkinsonism With Spasticity, X-Linked	Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity	OMIM:300911
Spinocerebellar Ataxia, Autosomal Recessive 7	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Ba...	OMIM:609270
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Recurrent skin infections, Asthma, Increased circulating IgE level, Recurrent pneumo...	OMIM:619752
Peroxisome Biogenesis Disorder 8B	Cerebellar atrophy, Lower limb spasticity, Ataxia, Clonus, Rigidity, Dysesthesia, Babinski sign, ...	OMIM:614877
Autosomal Recessive Spastic Paraplegia Type 39	Cerebellar atrophy, Lower limb spasticity, Babinski sign, Spastic paraplegia, Gait ataxia	ORPHA:139480
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate	Cerebellar atrophy, Elevated urinary N-acetylaspartic acid level	OMIM:618384
Spinocerebellar Ataxia 34	Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis...	OMIM:133190
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Type IV athe...	OMIM:144300
Hereditary Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Respiratory distress, Tachycardia, Respiratory failur...	ORPHA:264675
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Sudden cardiac death, Myocardial infarction, Gout, Increased LDL cholestero...	OMIM:610947
Ataxia-Telangiectasia-Like Disorder	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Chorea, Dysme...	ORPHA:251347
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Arteriosclerosis, Cirrhosis, Hypercho...	ORPHA:75234
Bardet-Biedl Syndrome 19	External genital hypoplasia, Patent ductus arteriosus, Hypogonadism, Hyposmia, Hepatic steatosis	OMIM:615996
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Small pituitary gland...	OMIM:612702
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Increas...	ORPHA:217390
Spinocerebellar Ataxia 10	Cerebellar atrophy, Incoordination, Babinski sign, Abnormal pyramidal sign, Dysmetria, Gait ataxi...	OMIM:603516
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Spastic Ataxia 5, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, C...	OMIM:614487
Intellectual Developmental Disorder, Autosomal Dominant 56	Bradyphrenia, Short attention span, Broad-based gait, Lower limb spasticity, Ataxia, Inability to...	OMIM:617854
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Gait a...	OMIM:615157
Dystonia 31	Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin...	OMIM:619565
Hypertriglyceridemia 1	Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration, Precocious ather...	OMIM:145750
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Titubation	OMIM:619405
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Congenital Disorder Of Glycosylation, Type Ia	Cerebellar atrophy, Dilated fourth ventricle, Pericarditis, Cerebellar vermis hypoplasia, Hypergo...	OMIM:212065
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Wide nose, Skin rash, Eosinophilia, Increased circulating IgE...	OMIM:147060
Spinocerebellar Ataxia Type 18	Cerebellar atrophy, Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tremor	ORPHA:98771
Joubert Syndrome 30	Cerebellar atrophy, Gray matter heterotopia, Superior cerebellar dysplasia, Dandy-Walker malforma...	OMIM:617622
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Slurred speech, Dysmetria, Limb ataxia, Ankle clonus, Progressive cerebellar ...	ORPHA:284289
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h...	ORPHA:52901
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Brittle hair, Sparse eyelashes, Sparse eyebrow, Tremor...	OMIM:617988
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Abnormal brainstem m...	ORPHA:231160
Huntington Disease	Bradyphrenia, Abnormality of the sense of smell, Abnormal circulating cholesterol concentration, ...	ORPHA:399
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hemolytic anemia, Hypertriglyceridemia, Normochromic ane...	OMIM:245900
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Decreased motor nerve conduction velocity, Incoordination, Tremor, Paraparesi...	OMIM:302800
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Hyposmia, Micropenis,...	OMIM:610628
Leukodystrophy, Hypomyelinating, 20	Cerebellar atrophy, Torticollis, Babinski sign, Spastic tetraplegia, Hypertonia, Dystonia, Hirsutism	OMIM:619071
Trichothiodystrophy 5, Nonphotosensitive	Broad-based gait, Brittle hair, Slow-growing hair, Sparse eyebrow, Gait ataxia, Reduced hair sulf...	OMIM:300953
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Hypogonadotropic hypogonadism, Secondary amenorrhea, Abnormality of the sense of smell, Abnormal ...	OMIM:228300
Immunodeficiency, Common Variable, 11	Recurrent respiratory infections, Increased circulating IgE level, Decreased proportion of class-...	OMIM:615767
Coenzyme Q10 Deficiency, Primary, 4	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus	OMIM:612016
Ataxia-Telangiectasia-Like Disorder 1	Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,...	OMIM:604391
Erythrocyte Lactate Transporter Defect	Elevated circulating creatine kinase concentration	OMIM:245340
Filippi Syndrome	Cerebellar atrophy, Dystonia, Sparse hair, Frontal hirsutism, Hypertrichosis	OMIM:272440
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Neutropen...	ORPHA:443811
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ...	ORPHA:169154
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Sparse hair, Reduced terminal:vellus ratio, Pili torti	OMIM:601553
Asherman Syndrome	Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S...	ORPHA:137686
Ciliary Dyskinesia, Primary, 1	Male infertility, Nasal polyposis, Pneumonia, Asplenia, Absent outer dynein arms, Atelectasis, An...	OMIM:244400
Spastic Tetraplegia And Axial Hypotonia, Progressive	Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar...	OMIM:618598
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Machado-Joseph Disease Type 1	Cerebellar atrophy, Dilated fourth ventricle, Substantia nigra gliosis, Facial-lingual fasciculat...	ORPHA:276238
Machado-Joseph Disease Type 2	Cerebellar atrophy, Dilated fourth ventricle, Substantia nigra gliosis, Facial-lingual fasciculat...	ORPHA:276241
Ige Responsiveness, Atopic	Asthma, Increased circulating IgE level, Eczema, Allergic rhinitis	OMIM:147050
4H Leukodystrophy	Cerebellar atrophy, Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadoch...	ORPHA:289494
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Abnormal cerebellum morphology, Kinetic tremor	OMIM:190310
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Decreased testicular ...	OMIM:614858
Corticobasal Syndrome	Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo...	ORPHA:454887
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Impaired vibration sens...	OMIM:600363
Leukodystrophy, Hypomyelinating, 6	Cerebellar atrophy, Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spas...	OMIM:612438
Ectodermal Dysplasia 9, Hair/Nail Type	Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair	OMIM:614931
Cognitive Impairment With Or Without Cerebellar Ataxia	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia	OMIM:614306
Spastic Paraparesis And Deafness	Tremor, Spastic paraparesis	OMIM:312910
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Genita...	OMIM:602450
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Increased circulating IgE leve...	OMIM:618523
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Lissencephaly 6 With Microcephaly	Cerebellar atrophy, Periventricular heterotopia, Pachygyria, Simplified gyral pattern, Microlisse...	OMIM:616212
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Limb...	ORPHA:216873
Sea-Blue Histiocyte Disease	Splenomegaly, Cirrhosis, Sea-blue histiocytosis, Foam cells, Thrombocytopenia	OMIM:269600
Cln5 Disease	Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Inability to walk, Atrophy/D...	ORPHA:228360
Autosomal Recessive Spastic Paraplegia Type 78	Cerebellar atrophy, Dystonia, Babinski sign, Abnormal pyramidal sign, Progressive cerebellar atax...	ORPHA:513436
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Cerebellar atrophy, Ataxia, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, Cerebellar hypopla...	ORPHA:313772
Ataxia-Oculomotor Apraxia 3	Cerebellar atrophy, Ataxia, Dysmetria, Distal sensory impairment, Oculomotor apraxia, Frequent falls	OMIM:615217
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hepatomegaly, Angina pectoris, Splenomegaly, Lymphadenop...	ORPHA:79292
Alexander Disease Type I	Cerebellar atrophy, Ataxia, Hydrocephalus, Abnormal pyramidal sign, Spasticity, Palatal tremor	ORPHA:363717
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Wide nose, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test,...	ORPHA:280679
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, H...	OMIM:617435
Null Syndrome	Ataxia, Inability to walk, Abnormal cerebellum morphology, Progressive spastic quadriplegia, Diff...	ORPHA:280234
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Schimke Immunoosseous Dysplasia	Pancytopenia, Transient ischemic attack, Depressed nasal bridge, Abnormal immunoglobulin level, B...	OMIM:242900
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity	OMIM:615924
Monomelic Amyotrophy	Degeneration of anterior horn cells, Tremor, Fasciculations	ORPHA:65684
Perrault Syndrome 1	Cerebellar atrophy, Ataxia, Spastic diplegia, Gait ataxia, Intention tremor	OMIM:233400
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Spinocerebellar Ataxia 2	Cerebellar atrophy, Dilated fourth ventricle, Impaired vibratory sensation, Ataxia, Parkinsonism,...	OMIM:183090
Spinocerebellar Ataxia 21	Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Akinesia, Limb ataxia, Gait ataxia, Co...	OMIM:607454
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Ataxia, Gait disturbance, Fine hair	ORPHA:1174
Spinocerebellar Ataxia 6	Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ata...	OMIM:183086
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Cerebellar atrophy, Ataxia, Synophrys, Unsteady gait, Hirsutism	OMIM:300861
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Conges...	OMIM:602390
Spinocerebellar Ataxia 36	Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Hypertonia, ...	OMIM:614153
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5	Cerebellar atrophy, Broad-based gait, Ataxia, Dysmetria	OMIM:618098
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Hyposmia, Micropenis	OMIM:244200
Familial Paroxysmal Ataxia	Hemiplegia, Torticollis, Ataxia, Cerebellar vermis atrophy	ORPHA:97
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Ataxia, Unsteady gait, Gait disturbance, Aplasia/Hypoplasia of the cerebellum	ORPHA:2585
Fragile X Tremor/Ataxia Syndrome	Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Parkinsonism, Acti...	OMIM:300623
Idiopathic Chronic Eosinophilic Pneumonia	Elevated circulating C-reactive protein concentration, Crackles, Nonproductive cough, Dyspnea, In...	ORPHA:2902
Machado-Joseph Disease Type 3	Cerebellar atrophy, Abnormal lower motor neuron morphology, Dilated fourth ventricle, Substantia ...	ORPHA:276244
Autosomal Recessive Progressive External Ophthalmoplegia	Cerebellar atrophy, Ataxia, Facial palsy, Optic atrophy, Distal sensory impairment, Bradykinesia,...	ORPHA:254886
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Cognitive impairment, Dystonia, Mental...	ORPHA:542310
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor	OMIM:611808
Meckel Syndrome 13	Oculomotor apraxia, Occipital encephalocele, Ataxia, Cerebellar hypoplasia	OMIM:617562
Spastic Paraplegia 79B, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Postural tremor,...	OMIM:615491
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon...	OMIM:607271
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology, Vocal cord paralysis	OMIM:607641
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Prominent nasal bridge, Cryptorchidism, Increased circulating IgE level, Hyp...	ORPHA:3409
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia	OMIM:264070
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Depressed nasal bridge, Splenomegaly, Decreased proportion of CD8-positive, alpha-b...	OMIM:619824
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra...	ORPHA:240103
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Cryptorchidism, Anosmia, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicu...	OMIM:614880
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Ataxia, Nail dystrophy, Cerebellar hypoplasia, Sparse hair	OMIM:616353
Immunodeficiency 23	Recurrent respiratory infections, Hemolytic anemia, Membranoproliferative glomerulonephritis, All...	OMIM:615816
Gapo Syndrome	Anteverted nares, Dysmenorrhea, Abnormal cerebral vascular morphology, Depressed nasal bridge, Ch...	ORPHA:2067
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	T lymphocytopenia, Hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of CD4+CD25+ r...	OMIM:606367
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Aplasia/Hypoplasia involving the nose, Hypogonadotropic hypogonadism, Choanal atresia, Abnormalit...	ORPHA:1135
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Fasciculations	OMIM:182980
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, He...	OMIM:278000
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El...	OMIM:615559
Hypermanganesemia With Dystonia 2	Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Progressive neurologic deterior...	OMIM:617013
Peroxisome Biogenesis Disorder 5B	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia	OMIM:614867
Fg Syndrome 3	Chiari type I malformation, Frontal upsweep of hair, Sparse hair, Fine hair	OMIM:300406
Pelizaeus-Merzbacher Disease	Psychomotor deterioration, Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Head t...	OMIM:312080
Trichothiodystrophy 9, Nonphotosensitive	Ataxia, Sparse eyebrow, Nail dystrophy, Sparse hair, Tiger tail banding	OMIM:619692
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradyki...	OMIM:300894
Glut1 Deficiency Syndrome 1	Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity	OMIM:606777
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Hypogonadotropic hypogonadism, Choanal atresia, Cryptorchidism, Anosmia, Primary amenorrhea, Hypo...	OMIM:147950
Urocanase Deficiency	Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, Dys...	OMIM:607694
Spinocerebellar Ataxia Type 10	Cerebellar atrophy, Lower limb spasticity, Kinetic tremor, Babinski sign, Unsteady gait, Dysmetri...	ORPHA:98761
Spinocerebellar Ataxia Type 8	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Hypoplasia of the pons, Rigidity, Unste...	ORPHA:98760
Congenital Disorder Of Glycosylation, Type Iii	Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem	OMIM:613612
Dysbetalipoproteinemia	Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertr...	ORPHA:412
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Distal sensory impairment, Spasticity, Inte...	OMIM:612674
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Optic atrophy, Dysmetria, ...	OMIM:616505
Classic Glucose Transporter Type 1 Deficiency Syndrome	Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy...	ORPHA:71277
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome	Cerebellar atrophy, Babinski sign, Sensory ataxia, Gait ataxia	ORPHA:445062
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru...	ORPHA:247815
Sitosterolemia 2	Hypercholesterolemia, Elevated circulating sitosterol concentration, Premature coronary artery at...	OMIM:618666
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:607688
Tularemia	Respiratory distress, Tachycardia, Skin rash, Pneumonia, Confusion, Erythema nodosum, Mediastinal...	ORPHA:3392
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Tremor, Hyperkinetic movements, Upper limb spasticity, Gait disturbance, Gliosis, Cerebellar dysp...	ORPHA:457240
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Hypoplasia of the ute...	OMIM:614837
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail	OMIM:617294
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Lateral ventricle dilatation, Difficulty walking...	ORPHA:306669
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Ataxia-Oculomotor Apraxia 4	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Atrophy/Degeneration affecting the brai...	OMIM:616267
Ciliary Dyskinesia, Primary, 9	Male infertility, Neonatal respiratory distress, Pneumonia, Absent outer dynein arms, Decreased n...	OMIM:612444
Meningioma	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th...	ORPHA:2495
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Anteverted nares, Wide nasal bridge, Micropenis, Hydrocele testis, Cerebellar hypop...	OMIM:618810
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Hypoplasia of the ute...	OMIM:614841
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Hypogonadotropic hypogonadism, Partial anosmia, Anomalous origin of left co...	ORPHA:2326
Young-Onset Parkinson Disease	Short attention span, Frontal lobe dementia, Male sexual dysfunction, Dementia, Cognitive impairm...	ORPHA:2828
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Cerebellar atrophy, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Difficu...	ORPHA:529665
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Myopathy With Extrapyramidal Signs	Ataxia, Clonus, Tremor, Chorea, Perisylvian polymicrogyria, Clumsiness, Choreoathetosis, Abnormal...	OMIM:615673
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Cryptorchidism, Anosmia, Primary amenorrhea, Azoospermia, Hypogonadism, Hyposmia, Micropenis, Dec...	OMIM:614897
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Hypogonadotropic hypogonadism, Anosmia, Bifid nose, Hyposmia, Micropenis, Decreased testicular size	OMIM:614838
Immunodeficiency 35	Recurrent respiratory infections, Increased circulating IgE level	OMIM:611521
Histiocytosis, Familial Lipochrome	Increased alpha-globulin, Increased circulating antibody level, Histiocytosis	OMIM:235900
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism	OMIM:260540
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis	OMIM:105500
Gray Platelet Syndrome	Splenomegaly, Epistaxis, Thrombocytopenia, Abnormality of the menstrual cycle	ORPHA:721
Lhermitte-Duclos Disease	Hydrocephalus, Polymicrogyria, Enlarged cerebellum, Ataxia	ORPHA:65285
Familial Aortic Dissection	Aortic regurgitation, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extrac...	ORPHA:229
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:600116
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, I...	ORPHA:37042
Machado-Joseph Disease	Cerebellar atrophy, Dilated fourth ventricle, Impaired vibratory sensation, Ataxia, Parkinsonism,...	OMIM:109150
Immunodeficiency 104	Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy...	OMIM:608971
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiecta...	OMIM:607594
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph...	OMIM:618060
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato...	OMIM:308230
Familial Infantile Myoclonic Epilepsy	Cerebellar atrophy, Ataxia, Clumsiness, Blepharospasm, Gait disturbance, Limb myoclonus, Perivent...	ORPHA:352582
Extracranial Carotid Artery Aneurysm	Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm...	ORPHA:494424
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Abnormal lung morphology, D...	ORPHA:449395
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Hypo...	OMIM:308240
Abdominal Obesity-Metabolic Syndrome 4	Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Eleva...	OMIM:618620
Kimura Disease	Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ...	ORPHA:482
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Sinusitis, Severe B lymphocytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Decreased circula...	OMIM:102700
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism...	ORPHA:314632
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo...	ORPHA:1808
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ataxia, Tremor, Inability to walk, Hypertonia, Cerebellar hypoplasia, Attention deficit hyperacti...	OMIM:619556
Alg12-Cdg	Hypoalbuminemia, Hypocholesterolemia, Micropenis, Hyponatremia, Hypospadias, Partial absence of s...	ORPHA:79324
Spinocerebellar Ataxia Type 36	Ataxia, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, Truncal ataxia, Dysmetria...	ORPHA:276198
Ataxia With Vitamin E Deficiency	Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella...	OMIM:277460
Adult-Onset Cervical Dystonia, Dyt23 Type	Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Limb tremor, Focal dystonia, Myo...	ORPHA:420492
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng...	OMIM:617284
Gerstmann-Straussler Disease	Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myocl...	OMIM:137440
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Sparse hair, Widow's peak, Thick eyebrow	OMIM:606242
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia, Positive Romberg sign, Cerebellar vermis at...	OMIM:614575
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Difficulty walking, Paralysis	OMIM:608634
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Vascular granular osmiophilic material deposition, Arteriosclerosis, Stroke-like episode, Dementi...	ORPHA:199354
Kleine-Levin Syndrome	Confusion, Transient global amnesia, Cognitive impairment, Decreased libido, Parosmia	ORPHA:33543
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Athetosis, Amyotrophic lateral sclerosis, Gliosis, Paralysis	OMIM:300857
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Ataxia, Parkins...	OMIM:614298
Hyperphenylalaninemia, Bh4-Deficient, C	Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia	OMIM:261630
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency	Dilatation of the cerebral artery, Atherosclerosis	ORPHA:91135
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Sparse hair, Alopecia, Long eyelashes, Ataxia	ORPHA:3363
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Hypertriglyceridemia, Generalized lymphadenopathy, Decreased lymphocyte proliferati...	OMIM:620282
Immunodeficiency 48	Recurrent respiratory infections, Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splen...	OMIM:269840
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Precocious atherosclerosis, Microvesicular hepatic steatosis, Vacuolated ...	ORPHA:275761
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Prominent superficial veins, Hypertriglyceridemia, Acute...	OMIM:151660
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Spasticity, Gait ataxia,...	ORPHA:247234
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Cerebellar atrophy, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Myoclonus	OMIM:619780
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto...	ORPHA:99027
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Hepatic steatosis, Polycystic ovaries, Hypertension, Coronary artery atherosclerosi...	ORPHA:79084
Revesz Syndrome	Ataxia, Progressive neurologic deterioration, Nail pits, Fine hair, Hypertonia, Cerebellar hypopl...	OMIM:268130
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Deafness, Neural, With Atypical Atopic Dermatitis	Late onset atopic dermatitis, Increased circulating IgE level	OMIM:221700
Spinocerebellar Ataxia, Autosomal Recessive 31	Ataxia, Tremor, Optic atrophy, Choreoathetosis, Cerebellar hypoplasia, Dystonia	OMIM:619422
Hypogonadotropic Hypogonadism 25 With Anosmia	Cryptorchidism, Anosmia, Primary amenorrhea, Hypoplasia of the ovary, Micropenis	OMIM:618841
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Abnormal pyramidal sign, Lissencephaly, Spasticity, Polymicrogyria	OMIM:614833
Lower Motor Neuron Syndrome With Late-Adult Onset	Tremor, Impaired distal vibration sensation, Tongue fasciculations, Fasciculations, Upper motor n...	ORPHA:276435
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti...	OMIM:618394
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Cryptorchidism, Anosmia, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicular size	OMIM:616030
Mitochondrial Complex I Deficiency, Nuclear Type 33	Progressive neurologic deterioration, Cerebellar hypoplasia, Sparse hair, Loss of ambulation, Spa...	OMIM:618253
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Impaired temperature ...	ORPHA:99947
Spinocerebellar Ataxia 27A	Cerebellar atrophy, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia	OMIM:193003
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab...	ORPHA:439232
Kallmann Syndrome	Dyspareunia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Decreas...	ORPHA:478
Gillespie Syndrome	Cerebellar atrophy, Ataxia, Postural tremor, Slurred speech, Cerebellar hypoplasia	OMIM:206700
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Anosmia, Hypogonadism, Short nose, Short nasal septum	OMIM:302950
Netherton Syndrome	Recurrent respiratory infections, Recurrent skin infections, Allergic rhinitis, Eczema, Asthma, I...	OMIM:256500
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Elevated hemoglobin A1c, Anterior pituitary hypoplasia, Abnormalit...	OMIM:616113
Gorlin Syndrome	Cryptorchidism, Hypogonadotropic hypogonadism, Wide nasal bridge, Abnormality of the sense of smell	ORPHA:377
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Cerebellar atrophy, Broad-based gait, Brittle hair, Poor coordination, Abnormal pyramidal sign, C...	OMIM:618891
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,...	OMIM:606703
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi...	OMIM:615513
Neuroferritinopathy	Resting tremor, Dystonia, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski s...	ORPHA:157846
Immunodeficiency 27A	Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto...	OMIM:209950
Chiari Malformation Type Ii	Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Opisthotonus, Gray matter heterotopia, Cer...	OMIM:207950
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Cerebellar atrophy, Sparse hair, Cerebral atrophy	OMIM:268020
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, A...	ORPHA:758
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Iron deficiency anemia, Inf...	OMIM:301000
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Precocious atherosclerosis, Pulmonary embolism, Periana...	ORPHA:444490
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Prominent superficial veins, Hypertriglyceridemia, Acute pancreatitis, Hypertension...	OMIM:608600
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Tremor, Babinski sign, Optic atrophy, Distal sensory i...	OMIM:609260
Autosomal Dominant Hyper-Ige Syndrome	Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Eosinophilia, Atelectasis, In...	ORPHA:2314
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 l...	OMIM:619773
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decreased circulati...	ORPHA:397596
Agammaglobulinemia, X-Linked	T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ...	OMIM:300755
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612716
Hypoalphalipoproteinemia, Primary, 2	Decreased HDL cholesterol concentration, Premature coronary artery atherosclerosis	OMIM:618463
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Ataxia, Tremor, Optic atrophy, Abnormal pyramidal sign, Dysmetria, Gait ataxi...	OMIM:614381
Niemann-Pick Disease, Type A	Recurrent respiratory infections, Hepatomegaly, Foam cells with lamellar inclusion bodies, Bone-m...	OMIM:257200
Panbronchiolitis, Diffuse	Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough, Foam cells	OMIM:604809
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Myoclonus	OMIM:615127
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Cryptorchidism, Anosmia, Hypogonadotropic hypogonadism	OMIM:612370
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Tremor, Spast...	ORPHA:572798
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Epistaxis, Atherosclerosis	OMIM:610842
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Hypoplasia ...	OMIM:617751
Axin2-Related Attenuated Familial Adenomatous Polyposis	Sparse hair	ORPHA:401911
Flynn-Aird Syndrome	Dementia, Atherosclerosis	ORPHA:2047
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr...	OMIM:132900
Spinocerebellar Ataxia Type 13	Cerebellar atrophy, Torticollis, Impaired distal vibration sensation, Limb ataxia, Clumsiness, Ti...	ORPHA:98768
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Anosmia, Hypogonadism	OMIM:615267
Joubert Syndrome With Renal Defect	Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Tremor, Hydrocephalus...	ORPHA:220497
Ectodermal Dysplasia, Trichoodontoonychial Type	Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/...	ORPHA:1818
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Wide nose, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test,...	OMIM:300845
Ciliary Dyskinesia, Primary, 14	Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Absent inner d...	OMIM:613807
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Polycystic ovaries, Hypertension, Hepatic fibrosis, Infertility, Oligomenor...	ORPHA:280356
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia	OMIM:618587
Migraine, Familial Hemiplegic, 2	Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl...	OMIM:602481
Primary Ciliary Dyskinesia	Asplenia, Chronic otitis media, Abnormal sperm motility, Male infertility, Neonatal respiratory d...	ORPHA:244
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Convex nasal ridge, Abnormal circulating lipid concentration, Hyperlipoproteinemia, Atherosclerosis	ORPHA:1979
Galloway-Mowat Syndrome 10	Cerebellar atrophy, Simplified gyral pattern, Myoclonus	OMIM:619609
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Anosmia, Hypogonadism	OMIM:615270
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Bronchiectasi...	OMIM:619220
Niemann-Pick Disease, Type C2	Hepatomegaly, Neonatal respiratory distress, CNS foam cells, Bone-marrow foam cells, Splenomegaly...	OMIM:607625
Dystonia 12	Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia	OMIM:128235
Apolipoprotein A-I Deficiency	Decreased HDL cholesterol concentration, Angina pectoris, Premature coronary artery atheroscleros...	ORPHA:425
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Pseudoxanthoma Elasticum	Accelerated atherosclerosis, Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failu...	OMIM:264800
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Sparse hair, Cerebral palsy, Cerebellar vermis hypoplasia, Appendicular spasticity	OMIM:620001
Spinocerebellar Ataxia Type 42	Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, U...	ORPHA:458803
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Accelerated atherosclerosis, Hepatic steatosis, Hypertriglyceridemia, Hepatitis, Cholestasis, Inc...	ORPHA:209902
Heparin Cofactor Ii Deficiency	Post-angioplasty coronary artery restenosis	OMIM:612356
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cerebellar atrophy, Ataxia, Dysesthesia, Babinski sign, Unsteady gait, Limb ataxia, Clumsiness, G...	OMIM:619259
Holoprosencephaly	Hypoplasia of penis, Abnormality of the spleen, Depressed nasal ridge, Absent nares, Aplasia/Hypo...	ORPHA:2162
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign,...	OMIM:606002
Epilepsy, Familial Adult Myoclonic, 5	Tremor, Myoclonus	OMIM:615400
Combined Oxidative Phosphorylation Deficiency 32	Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Dystonia, Spasticity	OMIM:617664
Sporadic Infantile Bilateral Striatal Necrosis	Short attention span, Resting tremor, Parkinsonism, Chorea, Babinski sign, Gait ataxia, Titubatio...	ORPHA:225147
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Generalized dystonia, Inability to walk, Spasticity, Opisthotonus, Tip-toe gai...	ORPHA:216866
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B...	OMIM:606159
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus	Cerebellar atrophy, Babinski sign, Cerebral atrophy, Sensory ataxia, Gait ataxia, Cognitive impai...	OMIM:616192
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Waddling gait, Tremor, Inability to walk, Clumsiness, Eye...	ORPHA:2590
Hemochromatosis, Type 1	Hepatomegaly, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Conges...	OMIM:235200
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Paralysis	OMIM:158590
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho...	ORPHA:64753
Squalene Synthase Deficiency	Hypospadias, Depressed nasal bridge, Increased circulating farnesol concentration, Bilateral cryp...	OMIM:618156
Immunodeficiency With Hyper-Igm, Type 2	Recurrent respiratory infections, Impaired Ig class switch recombination, Lymphadenopathy, Increa...	OMIM:605258
Oliver-Mcfarlane Syndrome	Sparse hair, Alopecia, Long eyelashes, Long eyebrows	OMIM:275400
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Increase...	OMIM:304790
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb...	OMIM:300853
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Dystonia, Limb hypertonia	ORPHA:324588
Trichothiodystrophy 8, Nonphotosensitive	Sparse eyebrow, Head titubation, Babinski sign, Craniofacial dystonia, Spastic diplegia, Ankle cl...	OMIM:619691
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Homozygous Familial Hypercholesterolemia	Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid artery morphology, A...	ORPHA:391665
X-Linked Charcot-Marie-Tooth Disease Type 1	Tremor, Ataxia, Impaired pain sensation	ORPHA:101075
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar...	ORPHA:91354
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Depressed nasal bridge, Cry...	ORPHA:251066
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Difficulty walking, Distal sensory impairment, Paralysis	OMIM:613710
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Dystonia	OMIM:618049
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Angioma Serpiginosum, X-Linked	Sparse hair, Nail dystrophy, Fine hair	OMIM:300652
Parkinson Disease 17	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia	OMIM:614203
Microcephaly 29, Primary, Autosomal Recessive	Enlarged cerebellum, Simplified gyral pattern, Ataxia	OMIM:620047
Gm1-Gangliosidosis, Type Iii	Foam cells	OMIM:230650
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Ataxia	OMIM:278780
Dystonia 24	Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia	OMIM:615034
Hemochromatosis, Type 3	Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated transferrin...	OMIM:604250
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c...	OMIM:615482
Cataract-Ataxia-Deafness Syndrome	Tremor, Hypertonia, Ataxia	ORPHA:1368
Bardet-Biedl Syndrome 17	Anosmia, Hypogonadism, Cognitive impairment, Hyposmia, Micropenis	OMIM:615994
Johnson Neuroectodermal Syndrome	Choanal atresia, Bulbous nose, Anosmia, Hypogonadism, Tetralogy of Fallot	ORPHA:2316
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Arrhythmia, Stroke, Precocious atherosclerosis	ORPHA:230839
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Cerebellar atrophy, Patchy alopecia, Cerebellar hypoplasia, Sparse hair, Cerebral cortical atrophy	OMIM:617763
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Anosmia, Hypogonadotropic hypogonadism, Primary amenorrhea	OMIM:614839
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Ataxia, Tremor, Optic atrophy, Spastic tetraplegia, Dysmetria, Athetosis, Hyp...	OMIM:617710
Porphyria, Acute Hepatic	Respiratory paralysis, Paresthesia, Paralysis	OMIM:612740
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ...	OMIM:612736
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Glutathionuria	Tremor, Dysdiadochokinesis, Agenesis of corpus callosum, Action tremor	OMIM:231950
Joubert Syndrome With Ocular Defect	Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Tremor, Hydrocephalus...	ORPHA:220493
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ...	OMIM:608106
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Eyelid myoclonus	OMIM:616421
Familial Hyperprolactinemia	Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea	ORPHA:397685
Leber Congenital Amaurosis 10	Hyposmia	OMIM:611755
Odontomatosis-Aortae Esophagus Stenosis Syndrome	Myocarditis, Atherosclerosis	ORPHA:2724
Netherton Syndrome	Recurrent respiratory infections, Skin rash, Eczema, Asthma, Increased circulating IgE level, Dec...	ORPHA:634
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Aredyld	Generalized hypotrichosis	OMIM:207780
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Short attention span, Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykin...	OMIM:610217
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Congenital Generalized Lipodystrophy	Hepatomegaly, Prominent superficial veins, Hypertriglyceridemia, Precocious puberty in females, O...	ORPHA:528
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula...	ORPHA:436159
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Cerebellar atrophy, Exaggerated startle response, Truncal titubation, Abnormal cerebellum morphol...	OMIM:618056
Tooth Agenesis, Selective, 8	Sparse eyebrow, Sparse hair	OMIM:617073
Secondary Short Bowel Syndrome	Low plasma citrulline, Enterocolitis, Abnormal blood ion concentration, Cholestasis, Steatorrhea,...	ORPHA:95427
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow	ORPHA:79133
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo...	OMIM:312863
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Azoospermia, Hyposmia, Mic...	OMIM:308700
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fingernail	ORPHA:2251
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Hyposmia	OMIM:615271
Mohr-Tranebjaerg Syndrome	Tremor, Spasticity, Dystonia, Mental deterioration, Abnormal posturing	OMIM:304700
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Pulmonary embolism, ...	ORPHA:90308
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Autoimmune hemolytic anemia, Sinusitis, Hypouricemia, Impaired T cell functi...	OMIM:613179
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, I...	OMIM:601859
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Bifid scrotum, Hypoplasia of penis, Hypogonadotropic hypogonadism, Anosmia, Abnormal nostril morp...	ORPHA:1295
Neuropathy, Hereditary Motor And Sensory, Russe Type	Difficulty walking, Distal sensory impairment, Paralysis	OMIM:605285
Autoimmune Hypoparathyroidism	Prolonged QT interval, Ventricular arrhythmia, Confusion, Autoimmune hypoparathyroidism, Dyspnea,...	ORPHA:36913
X-Linked Charcot-Marie-Tooth Disease Type 4	Tremor, Ataxia, Impaired pain sensation	ORPHA:101078
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia...	OMIM:240500
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair	OMIM:278200
Intellectual Developmental Disorder, X-Linked 12	Cerebellar vermis hypoplasia, Tremor, Abnormal cerebellum morphology, Hyperkinetic movements, Gai...	OMIM:300957
Peroxisome Biogenesis Disorder 9B	Cardiomyopathy, Anosmia, Elevated circulating phytanic acid concentration, Total anosmia	OMIM:614879
Hsd10 Disease	Short attention span, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Gait disturbance,...	ORPHA:391417
Acute Peripheral Arterial Occlusion	Paresthesia, Impaired distal tactile sensation, Paralysis	ORPHA:90064
Brown-Vialetto-Van Laere Syndrome 1	Ataxia, Abnormal cerebellum morphology, Vocal cord paralysis, Clumsiness, Ankle clonus, Tongue fa...	OMIM:211530
Syndromic X-Linked Intellectual Disability 7	Sparse body hair	ORPHA:85274
Alkaptonuria	Myocardial infarction, Coronary artery calcification, Abnormality of the nose, Osteoarthritis, Hy...	ORPHA:56
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor...	ORPHA:101
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, Ataxia, Gait ataxia	OMIM:617831
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Curly hair, Sparse eyelashes, Cerebellar hypoplasia, Sparse hair, Alopecia of scalp	OMIM:615280
Adult Acute Respiratory Distress Syndrome	Shock, Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Vasculitis, Abnorma...	ORPHA:70578
Pyruvate Dehydrogenase E1-Alpha Deficiency	Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Lethargy, Agenesis of corpus callosum	OMIM:312170
4Q21 Microdeletion Syndrome	Tremor, Agenesis of corpus callosum, Cerebellar hypoplasia	ORPHA:238750
Autosomal Dominant Spastic Paraplegia Type 9A	Tremor, Abnormal cerebellum morphology, Babinski sign, Impaired vibration sensation in the lower ...	ORPHA:447753
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co...	OMIM:614700
Aprosencephaly And Cerebellar Dysgenesis	Absent mesencephalon, Poorly formed metencephalon, Cerebellar dysplasia	OMIM:601374
Peeling Skin Syndrome 1	Asthma, Increased circulating IgE level, Eosinophilia, Erythroderma	OMIM:270300
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasa...	OMIM:300991
Schnitzler Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Increased circu...	ORPHA:37748
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Hypertension, Stroke, Oligomenorrhea, Hepatic steatosis	OMIM:613877
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Eczema, Thyroiditis	OMIM:618985
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Depressed nasal bridge, Wide nasal bridge, Aspiration pneumonia	OMIM:609528
47,Xyy Syndrome	Increased circulating gonadotropin level, Hydrocephalus, Increased serum testosterone level, Dysg...	ORPHA:8
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Abnormal lung lobation, Chiari type I malformation, Hypoalbuminemia...	OMIM:270400
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Anteverted nares, Pneumonia, Depressed nasal bridge, Recurrent upper respiratory tract infections...	OMIM:614069
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Thin nail, Absent eyelashes, Nail dystrophy, Sparse hair	OMIM:618625
Staphylococcal Necrotizing Pneumonia	Shock, Respiratory distress, Neutrophilia, Pneumonia, Elevated circulating C-reactive protein con...	ORPHA:36238
Neuronal Intranuclear Inclusion Disease	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Tremor, Rigidity,...	OMIM:603472
Refsum Disease	Heart block, Splenomegaly, Anosmia, Respiratory insufficiency, Cardiomyopathy	ORPHA:773
Epilepsy, Progressive Myoclonic, 6	Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation, Memory impairment	OMIM:614018
Superficial Siderosis	Cerebellar atrophy, Subarachnoid hemorrhage, Partial anosmia, Internal hemorrhage, Anosmia, Abnor...	ORPHA:247245
Immunodeficiency 32B	Recurrent respiratory infections, Hepatomegaly, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia,...	OMIM:226990
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Later...	ORPHA:363654
Mirage Syndrome	Hyponatremia, Hypospadias, Hypergonadotropic hypogonadism, Cryptorchidism, Patent ductus arterios...	OMIM:617053
Ciliary Dyskinesia, Primary, 26	Recurrent respiratory infections, Neonatal respiratory distress, Absent outer dynein arms, Decrea...	OMIM:615500
Schopf-Schulz-Passarge Syndrome	Ridged nail, Narrow nail, Thin nail, Poroma, Onycholysis, Nail dystrophy, Small nail, Sparse hair...	OMIM:224750
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair	OMIM:129490
Ciliary Dyskinesia, Primary, 15	Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Chronic bronchi...	OMIM:613808
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Progressive spastic quadriplegia, Spa...	ORPHA:2985
Hypotrichosis Simplex Of The Scalp	Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis	ORPHA:90368
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H...	OMIM:301082
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Short Stature, Microcephaly, And Endocrine Dysfunction	Broad-based gait, Ataxia, Dysmetria, Dysdiadochokinesis, Gait disturbance, Cognitive impairment, ...	OMIM:616541
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ...	OMIM:247800
Body Mass Index Quantitative Trait Locus 19	Hyposmia, Hyperlipidemia, Hypertriglyceridemia, Anosmia	OMIM:617885
Interstitial Lung Disease 2	Dyspnea, Alveolar cell carcinoma, Increased circulating antibody level, Pulmonary fibrosis, Eleva...	OMIM:178500
Tay-Sachs Disease	Cerebellar atrophy, Short attention span, Exaggerated startle response, Incoordination, Dystonia,...	ORPHA:845
Werner Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c, Hypogonadism, Premature arteriosclerosis, Convex n...	OMIM:277700
Niemann-Pick Disease, Type C1	Hepatomegaly, CNS foam cells, Bone-marrow foam cells, Splenomegaly, Dementia, Sea-blue histiocyto...	OMIM:257220
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Prominent superficial veins, Hypertriglyceridemia, Prima...	OMIM:604367
Hutchinson-Gilford Progeria Syndrome	Angina pectoris, Myocardial infarction, Precocious atherosclerosis, Congestive heart failure, Pre...	OMIM:176670
Autosomal Recessive Spastic Paraplegia Type 35	Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Corpus cal...	ORPHA:171629
Immunodeficiency 85 And Autoimmunity	Recurrent respiratory infections, Lymphopenia, Eczema, Oligoarthritis, Decreased circulating tota...	OMIM:619510
Niemann-Pick Disease Type C	Hepatomegaly, Bone-marrow foam cells, Progressive neurologic deterioration, Splenomegaly, Abnorma...	ORPHA:646
Focal Facial Dermal Dysplasia 3, Setleis Type	Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes	OMIM:227260
Igg4-Related Submandibular Gland Disease	Cholangitis, Increased circulating IgG4 level, Eosinophilia, Retroperitoneal fibrosis, Increased ...	ORPHA:449432
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Optic disc pallor, Tremor, Hypoesthesia, Dysplastic corpus callosum...	OMIM:619737
Rigid Spine Syndrome	Abnormality on pulmonary function testing, Respiratory insufficiency, Pneumonia, Cardiac conducti...	ORPHA:97244
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg...	OMIM:606693
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Lymphopenia, Hepatomegaly, Anteverted nares, Depressed nasal bridge, Long nose, Decreased proport...	ORPHA:508533
Hydrolethalus	Abnormality of the sense of smell, Cryptorchidism, Abnormal fallopian tube morphology	ORPHA:2189
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia	OMIM:618637
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Osteoarthritis, Intracranial hemorrhage, Narrow nasal ridge, Raynaud pheno...	ORPHA:740
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Carotid artery stenosis, Elevated circulating sitos...	OMIM:210250
Refsum Disease, Classic	Congestive heart failure, Elevated circulating phytanic acid concentration, Anosmia, Cardiomyopat...	OMIM:266500
Cockayne Syndrome	Cerebellar atrophy, Hepatomegaly, Cryptorchidism, Splenomegaly, Retinal hemorrhage, Hypertension,...	ORPHA:191
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm...	ORPHA:91387
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased circulating IgG level, Iron deficiency anemia, Increased B cell count, Decreased lympho...	OMIM:603909
Bloom Syndrome	Bronchitis, Uveitis, Otitis media, Decreased circulating IgG level, Male infertility, Decreased p...	ORPHA:125
Acute Lung Injury	Shock, Respiratory distress, Increased circulating interleukin 6 concentration, Acute pancreatiti...	ORPHA:178320
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Anosmia, Hypogonadotropic hypogonadism	OMIM:614842
Ciliary Dyskinesia, Primary, 32	Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, D...	OMIM:616481
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb...	OMIM:261640
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Myoclonus, Frequent falls	OMIM:159950
Horner Syndrome, Congenital	Paralysis	OMIM:143000
Tangier Disease	Accelerated atherosclerosis, Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectio...	ORPHA:31150
Amoebiasis Due To Free-Living Amoebae	Sinusitis, Abnormal medulla oblongata morphology, Pneumonia, Confusion, Abnormal midbrain morphol...	ORPHA:68
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykin...	OMIM:618877
Bronchial Neuroendocrine Tumor	Hepatomegaly, Tricuspid regurgitation, Pneumonia, Chronic noninfectious lymphadenopathy, Right ve...	ORPHA:97287
Kallmann Syndrome With Spastic Paraplegia	Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Micropenis, Testicular atrophy	OMIM:308750
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Abnormal social behavior	ORPHA:436151
Butyrylcholinesterase Deficiency	Paralysis	ORPHA:132
Joubert Syndrome 37	Sparse hair, Oculomotor apraxia, Cerebellar vermis hypoplasia	OMIM:619185
Gaisböck Syndrome	Myocardial infarction, Increased circulating renin level, Cholecystitis, Peripheral arterial sten...	ORPHA:90041
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cho...	OMIM:607765
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Paraganglioma	OMIM:618464
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Elevated circulating C-reactive protein concentration, Increased circulat...	ORPHA:449563
Idiopathic Achalasia	Bronchitis, Wheezing, Cough, Decreased prealbumin level, Recurrent aspiration pneumonia	ORPHA:930
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Tremor, Synophrys, Spastic di...	OMIM:300966
Spinocerebellar Ataxia With Epilepsy	Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys...	ORPHA:254881
Potocki-Lupski Syndrome	Prominent nasal tip, Hypocholesterolemia	OMIM:610883
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Bilateral Perisylvian Polymicrogyria	Lower limb spasticity, Cerebellar vermis hypoplasia, Paraparesis, Oromotor apraxia, Perisylvian p...	ORPHA:98889
Aceruloplasminemia	Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Rigidity, C...	ORPHA:48818
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Lymphopenia, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, E...	ORPHA:169160
Inherited Creutzfeldt-Jakob Disease	Short attention span, Confusion, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyr...	ORPHA:282166
Post-Traumatic Pituitary Deficiency	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Pituitary h...	ORPHA:95619
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Broad-based gait, Synophrys, Low anterior hairline, Fine hair, Cerebellar hypoplasia, Spastic par...	ORPHA:391408
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Diabetes mellitus, Cerebellar hypoplasia, Cerebellar dysplasia	ORPHA:500159
Prolidase Deficiency	Hepatomegaly, Depressed nasal bridge, Eczema, Splenomegaly, Asthma, Recurrent pneumonia, Diffuse ...	OMIM:170100
Glut1 Deficiency Syndrome 2	Tremor, Ataxia, Choreoathetosis, Dystonia	OMIM:612126
Choroidal Atrophy-Alopecia Syndrome	Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye...	ORPHA:1433
Estrogen Resistance Syndrome	Acne, Enlarged polycystic ovaries, Increased circulating gonadotropin level, Primary amenorrhea, ...	ORPHA:785
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Angina pectoris, Elevated circulating creatin...	ORPHA:565612
Alkuraya-Kucinskas Syndrome	Hydrocephalus, Gray matter heterotopia, Lissencephaly, Cerebellar hypoplasia, Oculomotor apraxia,...	OMIM:617822
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati...	ORPHA:276
Nestor-Guillermo Progeria Syndrome	Prominent superficial veins, Convex nasal ridge, Dyspnea, Right bundle branch block, Hypertension...	OMIM:614008
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Mental deterioration, Memory impairment, Parkins...	ORPHA:240085
Moynahan Syndrome	Sparse hair, Alopecia	ORPHA:2574
Alpha-Fetoprotein, Hereditary Persistence Of	Elevated circulating alpha-fetoprotein concentration	OMIM:615970
Farber Disease	Respiratory distress, CNS foam cells, Intrahepatic cholestasis with episodic jaundice, Nodular pa...	ORPHA:333
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Ataxia, Decreased nerve co...	ORPHA:206443
Neutropenia, Chronic Familial	Increased circulating antibody level, Periodontitis, Neutropenia	OMIM:162700
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni...	OMIM:619725
Dubowitz Syndrome	Short attention span, Hypospadias, Eczema, Aplastic anemia, Broad nasal tip, Prominent nasal brid...	OMIM:223370
Sting-Associated Vasculopathy, Infantile-Onset	Recurrent respiratory infections, Myositis, Lymphopenia, Skin rash, Elevated circulating C-reacti...	OMIM:615934
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Increased circulating IgE level, Blepharitis, Erythroderma	OMIM:614328
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair	OMIM:234030
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia	ORPHA:141152
Congenital Disorder Of Glycosylation, Type Ie	Tremor, Pontocerebellar atrophy, Optic atrophy, Ataxia	OMIM:608799
Tako-Tsubo Cardiomyopathy	Abnormal coronary artery morphology, Prolonged QTc interval, Mildly elevated creatine kinase, Mil...	ORPHA:66529
Riddle Syndrome	Conjunctival telangiectasia, Generalized lymphadenopathy, Pneumonia, Elevated circulating alpha-f...	ORPHA:420741
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cerebellar dysplasia, Encephalocele, Partial absence of cerebellar vermis, Hydrocephalus, Cerebel...	OMIM:613150
Analbuminemia	Patent ductus arteriosus, Elevated circulating transferrin concentration, Increased LDL cholester...	OMIM:616000
Bazex-Dupré-Christol Syndrome	Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor...	ORPHA:113
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ...	ORPHA:206594
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili...	OMIM:615508
Coccidioidomycosis	Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Abnormality of ...	ORPHA:228123
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor	OMIM:614307
Ciliary Dyskinesia, Primary, 11	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Decreased na...	OMIM:612649
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Crazy paving pattern, Crackles, Dyspnea, Intraalveola...	ORPHA:747
Ciliary Dyskinesia, Primary, 34	Male infertility, Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, A...	OMIM:617091
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Cerebellar atrophy, Spasticity, Ataxia, Cataplexy	OMIM:604121
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Cerebellar atrophy, Cerebellar hypoplasia, Attention deficit hyperactivity disorder, Atrophy/Dege...	OMIM:619971
Charcot-Marie-Tooth Disease Type 4C	Cerebellar atrophy, Impaired pain sensation, Inability to walk, Impaired distal vibration sensati...	ORPHA:99949
Ras-Associated Autoimmune Leukoproliferative Disorder	Recurrent respiratory infections, Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperp...	OMIM:614470
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Psoriasiform dermatitis, Decreased LDL cholesterol conce...	OMIM:616834
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Ciliary Dyskinesia, Primary, 13	Absent inner dynein arms, Absent outer dynein arms, Bronchiectasis, Immotile cilia, Infertility, ...	OMIM:613193
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Raynaud phenomenon, Discoid lupus rash, Asthma, ...	ORPHA:90280
Ciliary Dyskinesia, Primary, 22	Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Bronchiectasis,...	OMIM:615444
Microphthalmia, Syndromic 9	Cryptorchidism, Patent ductus arteriosus, Agenesis of pulmonary vessels, Wide nasal bridge, Alveo...	OMIM:601186
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti	OMIM:607903
Septo-Optic Dysplasia Spectrum	Hypoplasia of penis, Anterior pituitary hypoplasia, Cryptorchidism, Anosmia, Aplasia/Hypoplasia o...	ORPHA:3157
X-Linked Charcot-Marie-Tooth Disease Type 5	Tremor, Paraparesis, Ataxia, Impaired pain sensation	ORPHA:99014
Secondary Intestinal Lymphangiectasia	Lymphopenia, Decreased circulating IgG1 level, Right ventricular failure, Reduced circulating tra...	ORPHA:90363
Ciliary Dyskinesia, Primary, 24	Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc...	OMIM:615481
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia	OMIM:233910
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Bundle branch block, Hypoplasia of penis, Hepatomegaly, Hypospadias, Antev...	ORPHA:373
8Q21.11 Microdeletion Syndrome	Wide nose, Hypoplasia of penis, Eczema, Underdeveloped nasal alae, Cryptorchidism, Abnormality of...	ORPHA:284160
Lathosterolosis	Foam cells with lamellar inclusion bodies, Anteverted nares, Bilobate gallbladder, Increased mean...	OMIM:607330
Developmental And Epileptic Encephalopathy 42	Tremor, Athetosis, Hypertonia, Ataxia	OMIM:617106
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot...	OMIM:601457
Ciliary Dyskinesia, Primary, 12	Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, D...	OMIM:612650
H Syndrome	Histiocytosis, Hypertriglyceridemia, Psoriasiform dermatitis, Microcytic anemia, Recurrent pharyn...	ORPHA:168569
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Tachycardia, ...	ORPHA:542323
Pituicytoma	Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to growth hormone stim...	ORPHA:251623
Intellectual Developmental Disorder, Autosomal Dominant 65	Ataxia, Synophrys, Low posterior hairline, Clumsiness, Thin eyebrow, Attention deficit hyperactiv...	OMIM:619320
Hyperostosis Cranialis Interna	Chiari type I malformation, Hyposmia, Anosmia	OMIM:144755
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Kinetic tremor, Gait ataxia, Fine hair, Truncal ataxia, Sparse hair, Spasticity	OMIM:616817
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Enlarged cerebellum	ORPHA:85165
Trichodental Dysplasia	Sparse hair, Brittle hair, Slow-growing hair, Fine hair	OMIM:601453
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Arrhythmia, Abnormality of the sense of smell	ORPHA:3201
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot...	OMIM:246700
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Ataxia, Nail pits, Premature graying of hair, Cerebellar hypoplasia, Nail ...	OMIM:127550
Glanzmann Thrombasthenia	Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Menometrorrhagia, Impaired thrombi...	ORPHA:849
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Cerebral atrophy, Head tremor, Atrophy...	ORPHA:314404
Variegate Porphyria	Paralysis	OMIM:176200
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo...	ORPHA:331235
Idiopathic Bronchiectasis	Myocardial infarction, Crackles, Productive cough, Dyspnea, Wheezing, Respiratory tract infection...	ORPHA:60033
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn...	ORPHA:229717
Immunodeficiency 22	Pericarditis, Thrombocytopenia, Recurrent upper respiratory tract infections, Capillary leak, Dec...	OMIM:615758
Xq27.3Q28 Duplication Syndrome	Sparse body hair	ORPHA:261483
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Bulbous nose, Recurrent otitis media, Periodontitis, Reduction of neutro...	OMIM:266265
Q Fever	Respiratory distress, Abnormal left ventricular function, Abnormality of the liver, Cholecystitis...	ORPHA:781
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular...	OMIM:177850
Atypical Werner Syndrome	Hepatic steatosis, Prominent superficial veins, Hypertriglyceridemia, Telangiectasia of the skin,...	ORPHA:79474
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Tremor, Cerebellar vermis atrophy, Gait ataxia	OMIM:300354
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab...	OMIM:618806
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Impaired vibration sensation in the lower limbs, Gait ataxia, Spinocerebellar atrophy, Progressiv...	ORPHA:95433
Common Variable Immunodeficiency	Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splen...	ORPHA:1572
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Congenital Short Bowel Syndrome	Sparse hair, Cognitive impairment	ORPHA:2301
Hawkinsinuria	Sparse hair, Fine hair	ORPHA:2118
Cortisone Reductase Deficiency 1	Precocious puberty, Acne, Infertility, Oligomenorrhea	OMIM:604931
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Bronchitis, Knee osteoarthr...	ORPHA:1304
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Depressed nasal ridge, Elevated circulating phytanic acid concentration, Steatorrhe...	OMIM:266510
Severe Neurodegenerative Syndrome With Lipodystrophy	Ataxia, Poor motor coordination, Tremor, Hyperinsulinemia, Progressive psychomotor deterioration,...	ORPHA:363400
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Tubuloint...	ORPHA:289390
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e...	ORPHA:1809
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair	OMIM:616099
Ciliary Dyskinesia, Primary, 37	Female infertility, Goiter, Wheezing, Bronchiectasis, Right aortic arch, Chronic rhinitis, Rhinor...	OMIM:617577
Lassa Fever	Shock, Menometrorrhagia, Dyspnea, Jaundice, Increased circulating IgM level, Conjunctivitis, Cough	ORPHA:99824
Acatalasemia	Arteriosclerosis, Severe periodontitis, Microcytic anemia	ORPHA:926
Ciliary Dyskinesia, Primary, 38	Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Ab...	OMIM:618063
Hereditary Geniospasm	Abnormal social behavior	ORPHA:53372
Wilson Disease	Decreased circulating ceruloplasmin concentration, Osteoarthritis, Hypoalbuminemia, Hepatic steat...	OMIM:277900
46,Xy Sex Reversal 1	Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute...	OMIM:400044
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Normocytic anemia, Skin rash, Pneumonia, Progressive neurologic dete...	ORPHA:247691
Lig4 Syndrome	Recurrent respiratory infections, Pancytopenia, Psoriasiform dermatitis, Prominent nose, Cryptorc...	OMIM:606593
Boutonneuse Fever	Maculopapular exanthema, Skin rash, Cervical lymphadenopathy, Vasculitis, Lymphadenopathy, Increa...	ORPHA:83313
Postinfectious Vasculitis	Elevated circulating C-reactive protein concentration, Gastrointestinal inflammation, Bacterial e...	ORPHA:48435
Intellectual Developmental Disorder, Autosomal Recessive 5	Broad-based gait, Synophrys, Hypertonia, Sparse hair, Spasticity, Thick eyebrow	OMIM:611091
Ciliary Dyskinesia, Primary, 45	Male infertility, Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein...	OMIM:618801
Multiple System Atrophy 1, Susceptibility To	Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Abn...	OMIM:146500
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
Heyn-Sproul-Jackson Syndrome	Sparse hair	OMIM:618724
Trichinellosis	Skin rash, Confusion, Increased circulating IgE level, Retinal hemorrhage, Central retinal artery...	ORPHA:863
Charge Syndrome	Aortic arch aneurysm, Bifid scrotum, Hypogonadotropic hypogonadism, Choanal atresia, Depressed na...	ORPHA:138
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Generalized lymphadenopathy, Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased...	OMIM:618986
Kaufman Oculocerebrofacial Syndrome	Neonatal respiratory distress, Anteverted nares, Depressed nasal bridge, Coarctation of aorta, Hy...	OMIM:244450
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I...	ORPHA:183675
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Clitoral hypertrophy, Hypospadias, Female ext...	ORPHA:90791
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Short attention span, Precocious ath...	ORPHA:909
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Recurrent respiratory infections, Nasal polyposis, Decreased nasal nitric oxide...	OMIM:620197
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Gand Syndrome	Sparse hair	OMIM:615074
Leopard Syndrome 1	Bundle branch block, Hypospadias, Delayed menarche, Cryptorchidism, Depressed nasal ridge, Microp...	OMIM:151100
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen...	ORPHA:2890
Campomelic Dysplasia	Ambiguous genitalia, Depressed nasal bridge, Male pseudohermaphroditism, Respiratory insufficienc...	ORPHA:140
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph...	ORPHA:507
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammati...	ORPHA:906
11Q22.2Q22.3 Microdeletion Syndrome	Short attention span, Abnormal social behavior, Depressed nasal bridge, Attention deficit hyperac...	ORPHA:444002
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti...	ORPHA:442835
Japanese Encephalitis	Weakness due to upper motor neuron dysfunction, Paralysis, Paucity of anterior horn motor neurons...	ORPHA:79139
Timothy Syndrome	Prolonged QT interval, Depressed nasal bridge, Pneumonia, Bronchitis, Patent ductus arteriosus, V...	OMIM:601005
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Recurrent respiratory infections, Wide nose, Hepatomegaly, Congestive heart...	OMIM:617303
Bacterial Toxic-Shock Syndrome	Respiratory distress, Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concen...	ORPHA:36234
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami...	ORPHA:99750
Cystic Echinococcosis	Abnormal peritoneum morphology, Multiple pulmonary cysts, Hepatomegaly, Pulmonary cyst, Eosinophi...	ORPHA:400
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha...	OMIM:613102
Acro-Renal-Mandibular Syndrome	Abnormal lung lobation, Uterus didelphys, Abnormality of the sense of smell, Bicornuate uterus, P...	ORPHA:958
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature pubarche, Acne, Premature thelarche, Isosexual pr...	ORPHA:90795
48,Xxxy Syndrome	Recurrent respiratory infections, Hypoplasia of penis, Small scrotum, Pulmonary embolism, Cryptor...	ORPHA:96263
Lissencephaly Syndrome, Norman-Roberts Type	Cerebellar atrophy, Respiratory distress, Wide nose, Wide nasal bridge, Hypoplastic spleen	ORPHA:89844
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia	ORPHA:70594
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Psychomotor deterioration, Thick hair, Coarse hair, Dementia, Cerebellar hypoplasia, Sparse hair,...	ORPHA:357074
Ciliary Dyskinesia, Primary, 19	Male infertility, Recurrent respiratory infections, Nasal polyposis, Bronchiectasis, Absent inner...	OMIM:614935
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Anonychia, Nail dystrophy, Sparse body hair	ORPHA:79402
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp...	OMIM:602400
Melioidosis	Shock, Foot osteomyelitis, Lung abscess, Liver abscess, Pneumonia, Respiratory tract infection, A...	ORPHA:31202
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Ataxia, Paralysis, Astrocytosis, Hypertonia, Gliosis, Myoclonus, Tetraparesis	OMIM:203700
Al Amyloidosis	Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Nonproductive cough, Abnormal...	ORPHA:85443
Pituitary Apoplexy	Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	ORPHA:95613
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Tachycardia, Apnea, Episodic tachypnea, Dementia, Progressive language deteri...	ORPHA:79264
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Metrorrh...	ORPHA:99147
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi...	ORPHA:90793
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Spid...	ORPHA:2137
Arnold-Chiari Malformation Type I	Somatic sensory dysfunction, Dysesthesia, Myelopathy, Babinski sign, Vocal cord paralysis, Gait a...	ORPHA:268882
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Cherry red spot of the macula, Hepatomegaly, Autoimmune ...	ORPHA:77293
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti...	OMIM:300055
Whipple Disease	Hyponatremia, Gastrointestinal hemorrhage, Pericarditis, Myositis, Hepatomegaly, Myocardial infar...	ORPHA:3452
Intellectual Developmental Disorder, Autosomal Dominant 54	Cerebellar atrophy, Lower limb spasticity, Ataxia, Thin nail, Inability to walk, Vocal cord paral...	OMIM:617799
Adult-Onset Nemaline Myopathy	Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy,...	ORPHA:171442
Legionnaires Disease	Hyponatremia, Pericarditis, Abnormal pleura morphology, Myocarditis, Abnormal lung morphology, Re...	ORPHA:549
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Hypoplasia of the pons, Spasticity, Vocal cord paralysis, Myoclonus	ORPHA:500144
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cerebellar atrophy, Waddling gait, Speech apraxia, Dystonia, Ataxia, Tremor, Inability to walk, C...	OMIM:615356
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Somatic sensory dysfunction, Tremor, Dysmetria, Progressive cerebellar ataxia,...	ORPHA:502423
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebellar atrophy, Exaggerated startle response, Tremor, Cerebellar hypoplasia, Fasciculations, ...	OMIM:620327
Glossopharyngeal Neuralgia	Chiari type I malformation, Dysesthesia, Vocal cord paralysis	ORPHA:221098
Prolactinoma	Dyspareunia, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Elevate...	ORPHA:2965
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Hepatocellu...	ORPHA:465508
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr...	ORPHA:90117
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Inability to walk, B...	ORPHA:52368
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, L...	OMIM:618213
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cerebellar edema, Torticollis, Ataxia, Tremor, Myelopathy, Rigidity, Cervical myelopathy, Tetrapa...	OMIM:617186
Avian Influenza	Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-...	ORPHA:454836
Primary Angiitis Of The Central Nervous System	Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis	ORPHA:140989
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Sparse hair, Coarse hair, Brittle hair, Cognitive impairment	ORPHA:1883
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol...	OMIM:615558
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Chronic bronchi...	OMIM:608647
Nicolaides-Baraitser Syndrome	Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Long eyelashes, Sparse hair	ORPHA:3051
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Lymphocytic intersti...	OMIM:618495
Cardiofaciocutaneous Syndrome 2	Sparse hair, Curly hair, Absent eyebrow, Fine hair	OMIM:615278
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse body hair	OMIM:618535
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea...	ORPHA:1303
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, He...	OMIM:616100
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi...	ORPHA:911
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Myasthenic Syndrome, Congenital, 16	Gait disturbance, Periodic paralysis	OMIM:614198
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia	OMIM:254120
Simple Cryoglobulinemia	Monoclonal elevation of circulating IgA, Myocardial infarction, Progressive neurologic deteriorat...	ORPHA:91139
Thrombocytopenia 1	Eczema, Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased me...	OMIM:313900
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu...	ORPHA:91348
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Loss of ambulation, Right hemiplegia	OMIM:607426
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva...	OMIM:256040
Arteriosclerosis, Severe Juvenile	Myocardial infarction, Central retinal vessel vascular tortuosity, Calcification of the aorta, Ar...	OMIM:208060
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Congestive heart failure, Emphysema, Intracranial hemorrhage, Hypertension,...	ORPHA:363618
Luscan-Lumish Syndrome	Shyness, Long nose, Irregular menstruation, Polycystic ovaries, Chiari malformation, Recurrent ot...	OMIM:616831
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:2850
Premature Ovarian Failure 7	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor...	OMIM:612964
Ciliary Dyskinesia, Primary, 42	Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi...	OMIM:618695
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Nail dystrophy, Small ...	OMIM:234050
Bosma Arhinia Microphthalmia Syndrome	Hypogonadotropic hypogonadism, Hypospadias, Choanal atresia, Cryptorchidism, Anosmia, Primary ame...	OMIM:603457
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair	OMIM:104100
Moebius Syndrome	Breast aplasia, Hypogonadotropic hypogonadism, Blepharitis, Abnormality of the sense of smell	ORPHA:570
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Generalized lymphadenopathy, Hepatic steatosis, Hemolytic anemia, Hepatomegal...	OMIM:615846
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Recurrent respiratory infections, Sinusitis, Nasal polyposis, Bronchiectasi...	OMIM:606763
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Decreased lymph...	OMIM:619313
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Bradykinesia, Sp...	ORPHA:240094
East Syndrome	Cerebellar atrophy, Ataxia, Inability to walk, Hyperaldosteronism, Difficulty walking, Action tremor	ORPHA:199343
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Reticulocytosis, Hepatic steatosis, Hepatomegaly, Acanth...	ORPHA:14
Aortic Aneurysm, Familial Thoracic 6	Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis...	OMIM:611788
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Anteverted nares, Pneumonia, Depressed nasal bridge, Bronchiectasis, Increased circula...	OMIM:242860
Saccharopinuria	Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia	ORPHA:3124
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Dysmenorr...	ORPHA:264580
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Sparse hair, Abnormal fingernail morphology, Sparse body hair	ORPHA:1810
Ataxia-Telangiectasia	Decreased circulating IgG level, Conjunctival telangiectasia, Lymphopenia, Sinusitis, Female hypo...	OMIM:208900
3-Methylglutaconic Aciduria, Type Viib	Cerebellar atrophy, Ataxia, Tremor, Opisthotonus, Choreoathetosis, Hyperkinetic movements, Myoclo...	OMIM:616271
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod...	ORPHA:100024
Dermoodontodysplasia	Sparse scalp hair, Fingernail dysplasia, Trichodysplasia, Toenail dysplasia, Sparse body hair	ORPHA:1660
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Angina pectoris, Hypertriglyceridemia, Increased HDL cholesterol concentration, Premature coronar...	ORPHA:140905
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Cerebellar atrophy, Abnormality of peripheral somatosensory evoked potentials, Impaired vibratory...	ORPHA:466768
Snakebite Envenomation	Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Respiratory...	ORPHA:449285
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased...	OMIM:615285
Joubert Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Tremor, Hydrocephalus...	ORPHA:475
Focal Facial Dermal Dysplasia Type Iii	Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyebrow, Sparse hair, Distichiasis, ...	ORPHA:1807
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Irregular menstruation, Hypertension, Hepatic steatosis, Incr...	OMIM:615238
Familial Afibrinogenemia	Menometrorrhagia, Epistaxis, Cerebral hemorrhage	ORPHA:98880
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
3P25.3 Microdeletion Syndrome	Anteverted nares, Depressed nasal bridge, Prominent nose, Patent ductus arteriosus, Pulmonic sten...	ORPHA:435638
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Supernumerary nipple, Cryptorchidism, Arteria lusoria, Heart murmur, Hyposmia, Micropenis	OMIM:618653
X-Linked Hypohidrotic Ectodermal Dysplasia	Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:181
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, External genital hypoplasia, Cryptorchidism, Single naris, Anosmia, Absent n...	ORPHA:2250
Paget Disease Of Bone 6	Osteoarthritis, Coronary artery atherosclerosis	OMIM:616833
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Cerebellar atrophy, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus, Mental...	OMIM:254900
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Metrorrhagia, Epistaxis, Pancreatic cysts, Dyspnea, Abnormal lung morphology...	ORPHA:464329
2Q32Q33 Microdeletion Syndrome	Sparse hair, Attention deficit hyperactivity disorder, Fine hair	ORPHA:251019
Infant Acute Respiratory Distress Syndrome	Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ...	ORPHA:70587
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Recurrent upper respiratory tract infections, Enlarged tonsils, Bronch...	OMIM:616005
Congenital Disorder Of Glycosylation, Type Iia	Unsteady gait, Hirsutism, Hypertonia, Long eyelashes, Cerebellar hypoplasia, Sparse hair, Thick e...	OMIM:212066
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Pneumonia, Lymphadenitis, Abnormal circulating interleukin concentration, Salmonella osteomyeliti...	ORPHA:319552
Pneumocystosis	Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Abnormal neutrophil...	ORPHA:723
Perrault Syndrome 4	Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ...	OMIM:615300
Cardiocranial Syndrome, Pfeiffer Type	Sparse hair, Abnormal hair whorl, Torticollis	ORPHA:2872
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, Increased circulating IgG lev...	OMIM:619472
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Dystonia, Ataxia, Tremor, Abnormal pyramidal sign, Fine hair, Premature graying of hair, Abnormal...	OMIM:612199
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C...	OMIM:618048
Frontonasal Dysplasia 2	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Sparse eyelashes, Alopecia totalis, ...	OMIM:613451
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh...	ORPHA:3411
Whim Syndrome	Lymphopenia, Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenit...	ORPHA:51636
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Crackles, Nodular pattern on pulmonary HRC...	ORPHA:79126
Perrault Syndrome 6	Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second...	OMIM:617565
Schöpf-Schulz-Passarge Syndrome	Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat...	OMIM:619574
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Sparse hair	OMIM:273390
Spastic Paraplegia 9B, Autosomal Recessive	Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, Tetraplegia, Pseu...	OMIM:616586
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dystrophic fing...	OMIM:604536
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Bro...	OMIM:619381
Alopecia Antibody Deficiency	Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair	ORPHA:1006
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Stormorken Syndrome	Howell-Jolly bodies, Epistaxis, Elevated circulating creatine kinase concentration, Subarachnoid ...	OMIM:185070
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Thumb Agenesis, Short Stature, And Immunodeficiency	Anosmia	OMIM:274190
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Stroke, Abnormality of circulating enzyme level, Anemia, Atherosclerosis	ORPHA:93598
Aorta Coarctation	Pseudocoarctation of the aorta, Congestive heart failure, Patent ductus arteriosus, Hypoplastic a...	ORPHA:1457
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Eem Syndrome	Sparse scalp hair, Absent eyebrow, Sparse body hair	ORPHA:1897
Hydrocephalus-Obesity-Hypogonadism Syndrome	Sparse facial hair, Absent facial hair, Low posterior hairline	ORPHA:2183
Immunodeficiency 67	Increased circulating IgE level, Transient neutropenia, Liver abscess	OMIM:607676
Xp22.13P22.2 Duplication Syndrome	Sparse hair, High anterior hairline, Slowed slurred speech, Attention deficit hyperactivity disorder	ORPHA:284180
Aural Atresia, Congenital	Hyposmia	OMIM:607842
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair	OMIM:613576
Oculodentodigital Dysplasia	Curly hair, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Ataxia, Fine hair, G...	ORPHA:2710
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Pancreatitis, Spleno...	OMIM:615947
Cutaneous Mastocytoma	Maculopapular exanthema, Telangiectasia of the skin, Dyspnea, Lymphadenopathy, Hypotension, Telan...	ORPHA:79455
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Acne, Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia,...	ORPHA:189427
Chylomicron Retention Disease	Hypertriglyceridemia, Acanthocytosis, Increased hepatocellular lipid droplets, Steatorrhea, Hypoc...	ORPHA:71
Amyotrophic Lateral Sclerosis	Motor neuron atrophy, Amyotrophic lateral sclerosis, Spasticity, Paralysis	ORPHA:803
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Hyp...	OMIM:102200
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Apnea, Obstructive Sleep	Anosmia	OMIM:107650
Wilson Disease	Hepatomegaly, Abnormality of the menstrual cycle, Splenomegaly, Thrombocytopenia, Jaundice, Hepat...	ORPHA:905
Hereditary Bullous Dystrophy, Macular Type	External genital hypoplasia, Pneumonia, Cryptorchidism, Heart murmur, Decreased testicular size	ORPHA:1867
Bazex-Dupre-Christol Syndrome	Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa	OMIM:301845
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-...	OMIM:619652
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Agyria, Type II lissencephaly, Meningoencephalocele, Hydrocephalus, Cere...	OMIM:236670
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Increased circulating interleukin 6 concentration, Acute tubulointerstitial...	ORPHA:340
Anauxetic Dysplasia 2	Sparse hair, Nail dysplasia, Small nail	OMIM:617396
Gm1 Gangliosidosis	Recurrent respiratory infections, Depressed nasal bridge, Broad nasal tip, Congestive heart failu...	ORPHA:354
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
Solitary Median Maxillary Central Incisor	Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Decreased response to growth...	OMIM:147250
Blepharophimosis With Ptosis, Syndactyly, And Short Stature	Anosmia, Wide nasal bridge	OMIM:210745
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Gonadal calcification, Increased circulating surfacta...	ORPHA:60025
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric...	OMIM:225060
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Abnormality of the spleen, Abnormali...	ORPHA:2552
Fanconi Anemia, Complementation Group S	Sparse hair, Long eyelashes, Low anterior hairline, Ataxia	OMIM:617883
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Increased circulating antibody level	ORPHA:411593
Progeroid Syndrome, Petty Type	Brittle hair, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in irregular rows...	ORPHA:2963
Alpha-Mannosidosis, Adult Form	Cerebellar atrophy, Aortic regurgitation, Pancytopenia, Pneumonia, Confusion, Hepatosplenomegaly	ORPHA:309288
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Epilepsy, Familial Adult Myoclonic, 2	Tremor, Ataxia, Blepharospasm, Myoclonus	OMIM:607876
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair	OMIM:619985
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Respiratory distress, Tachycardia, Inflammatory abnormality of the skin, H...	ORPHA:26793
Menkes Disease	Alopecia, Brittle hair, Babinski sign, Hypertonia, Sparse hair	OMIM:309400
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Sex reversal, Increased circulating renin level, Ambiguous ...	ORPHA:168558
Scedosporiosis	Pericarditis, Sinusitis, Bronchial breath sound, Pneumonia, Bronchitis, Arthralgia/arthritis, Ost...	ORPHA:449280
Gangliocytoma	Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent...	ORPHA:251937
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula...	ORPHA:99827
Blepharocheilodontic Syndrome 1	Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis	OMIM:119580
Autosomal Dominant Progressive External Ophthalmoplegia	Cerebellar atrophy, Resting tremor, Ataxia, Facial palsy, Tremor, Rigidity, Gait ataxia, Bradykin...	ORPHA:254892
Marcus-Gunn Syndrome	Choanal atresia, Abnormality of the sense of smell	ORPHA:91412
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Increased circula...	OMIM:617099
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Sex reversal, Increased circulating renin level, Ambiguous ...	ORPHA:289548
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o...	ORPHA:90794
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Progressive extrapyramidal muscular rigidity, Akinesia, Parkinsonism, Tremor, Abn...	ORPHA:240071
Trichohepatoenteric Syndrome 2	Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:614602
Poems Syndrome	Thrombocytosis, Respiratory insufficiency due to muscle weakness, Lymphadenopathy, Restrictive ve...	ORPHA:2905
Musk, Inability To Smell	Anosmia	OMIM:254150
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Bloom Syndrome	Hepatic steatosis, Elevated hemoglobin A1c, Decreased fertility in females, Prominent nose, Crypt...	OMIM:210900
Spinocerebellar Ataxia Type 3	Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma...	ORPHA:98757
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentrat...	ORPHA:79240
Adenohypophysitis	Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Decreased female lib...	ORPHA:95512
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Pneumonia, Decreased response to growth hormone stimulation test, Enteroviral hepatiti...	OMIM:307200
Immunodeficiency 43	Hypoproteinemia, Recurrent respiratory infections, Decreased specific antibody response to polysa...	OMIM:241600
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome	Anosmia	ORPHA:2057
Premature Ovarian Failure 13	Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l...	OMIM:617442
Scleromyxedema	Abnormal coronary artery morphology, Elevated circulating creatine kinase concentration, Transien...	ORPHA:167635
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepa...	ORPHA:79124
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Anosmia, Micropenis	OMIM:619718
Graft Versus Host Disease	Myositis, Tachycardia, Fasciitis, Pneumonia, Maculopapular exanthema, Inflammatory abnormality of...	ORPHA:39812
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Sparse hair, Sparse eyebrow	OMIM:619989
Anosmia For Butyl Mercaptan	Anosmia	OMIM:270350
Anosmia For Isobutyric Acid	Partial anosmia	OMIM:207000
Anosmia, Isolated Congenital, X-Linked	Anosmia	OMIM:301700
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum...	OMIM:615952
Anosmia, Isolated Congenital	Anosmia	OMIM:107200
Isovaleric Acid, Inability To Smell	Anosmia	OMIM:243450
Bainbridge-Ropers Syndrome	Highly arched eyebrow, Supernumerary nipple, Inability to walk, Synophrys, Hirsutism, Hypertonia,...	OMIM:615485
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Myositis, Sinusitis, Hypertriglyceridemia, Skin rash, Splenomegaly, Thrombocytopeni...	OMIM:617591
Cranioectodermal Dysplasia	Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology	ORPHA:1515
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory...	OMIM:620296
Fg Syndrome Type 1	Hypospadias, Choanal atresia, Prominent nose, Abnormal cerebellum morphology, Cryptorchidism, Coa...	ORPHA:93932
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Cryptorchidism, Anosmia, Portal hypertension, Hepatosplenomegaly	OMIM:609136
Cronkhite-Canada Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Dystrophic toenail, Patchy alopec...	ORPHA:2930
Panhypophysitis	Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Decreased female lib...	ORPHA:95513
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Hypokalemic Periodic Paralysis	Periodic hypokalemic paresis, Respiratory paralysis, Paralysis	ORPHA:681
Vici Syndrome	Abnormal posturing, Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:242840
Bathing Suit Ichthyosis	Sparse hair, Alopecia, Nail dystrophy, Impaired temperature sensation	ORPHA:100976
Familial Cervical Artery Dissection	Paresthesia, Paralysis	ORPHA:36382
Late-Onset Isolated Acth Deficiency	Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Orthostatic hypotension, P...	ORPHA:199299
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Confusion, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemiparesis, Dementi...	OMIM:105210
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hepatomegaly, Cognitive im...	ORPHA:79259
Tsh-Secreting Pituitary Adenoma	Male hypogonadism, Hypogonadotropic hypogonadism, Hypokalemia, Decreased fertility in males, Hypo...	ORPHA:91347
Glucocorticoid Resistance, Generalized	Hypertension, Increased circulating cortisol level, Irregular menstruation, Infertility	OMIM:615962
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Paraproteinemia, Elevated circulating creatinine concen...	ORPHA:329918
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Sparse body hair	ORPHA:59303
Tick-Borne Encephalitis	Speech apraxia, Somatic sensory dysfunction, Abnormal medulla oblongata morphology, Incoordinatio...	ORPHA:297
Even-Plus Syndrome	Sparse hair, Synophrys, Highly arched eyebrow	OMIM:616854
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Hyperspl...	ORPHA:98850
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma...	ORPHA:96180
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Increased c...	ORPHA:69126
Obesity Due To Sim1 Deficiency	Cognitive impairment, Attention deficit hyperactivity disorder, Hypotension, Memory impairment, P...	ORPHA:369873
Parkinson Disease 8, Autosomal Dominant	Hyposmia, Dementia, Substantia nigra gliosis	OMIM:607060
Charge Syndrome	External genital hypoplasia, Decreased response to growth hormone stimulation test, Gonadotropin ...	OMIM:214800
Erythema Elevatum Diutinum	Skin rash, Increased circulating antibody level, Vasculitis in the skin	ORPHA:90000
X-Linked Adrenoleukodystrophy	Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare...	ORPHA:43
Weaver Syndrome	Deep-set nails, Thin nail, Slurred speech, Fine hair, Poor fine motor coordination, Hypertonia, C...	OMIM:277590
Congenital Tracheomalacia	Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac...	ORPHA:95430
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Progressive neurologic deterioration, Tremor, Rigidity, Cerebral amyloid angiopathy, Dementia, Hy...	OMIM:176500
Ovarian Fibrothecoma	Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal endometrium morphology, Gonadal calcificatio...	ORPHA:314478
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Optic disc ...	ORPHA:1454
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Pancytopenia, Macroorchidism, Elevated circulating growth hormon...	ORPHA:562
Mevalonic Aciduria	Cerebellar atrophy, Normocytic hypoplastic anemia, Agenesis of cerebellar vermis, Skin rash, Elev...	OMIM:610377
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Anosmia	OMIM:601152
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair	ORPHA:2266
Generalized Glucocorticoid Resistance Syndrome	Adrenal hyperplasia, Acne, Precocious puberty, Oligozoospermia, Hypertension, Increased circulati...	ORPHA:786
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup...	ORPHA:99103
Pyruvate Carboxylase Deficiency	Ataxia, Tremor, Cerebellar gliosis, Abnormal pyramidal sign, Tip-toe gait, Dystonia, Agenesis of ...	ORPHA:3008
Cerebellar-Facial-Dental Syndrome	Hypoplasia of the pons, Sparse eyebrow, Fine hair, Cerebellar hypoplasia, Sparse hair, Inferior c...	ORPHA:444072
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Polycystic ovaries, Oligomenorrhea, Hepatic steatosis, Pancre...	ORPHA:435651
Hypermanganesemia With Dystonia 1	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality...	OMIM:613280
Premature Ovarian Failure 18	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr...	OMIM:619203
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Hepatomegaly, Increased circulating IgA level, Peritonitis, Vasculit...	ORPHA:343
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Sparse hair	ORPHA:1264
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni...	OMIM:600802
Hereditary Late-Onset Parkinson Disease	Hyposmia, Dementia, Mental deterioration, Orthostatic hypotension due to autonomic dysfunction	ORPHA:411602
Desbuquois Syndrome	Sparse hair, Abnormal eyelash morphology	ORPHA:1425
Tempi Syndrome	Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Increased circulating IgG...	ORPHA:284227
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Bradykinesia, Parkinsonism	OMIM:614251
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Leukopenia, Hypoalbuminemia, Conjunctivitis, Decreased circulating IgG leve...	ORPHA:505248
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Exaggerated startle response, Cerebellar vermis hypoplasia, Optic nerve...	OMIM:615574
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Psoriasiform dermatitis, Severe B lymphocytop...	ORPHA:293978
Sheehan Syndrome	Hyponatremia, Dyspareunia, Decreased circulating cortisol level, Orthostatic hypotension, Decreas...	ORPHA:91355
T-Cell Immunodeficiency With Thymic Aplasia	Sinusitis, Aplasia of the thymus, Pneumonia, Decreased proportion of naive T cells, Atypical or p...	ORPHA:83471
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Curly hair, Sparse eyebrow, Synophrys, Sparse hair, Parietal cortical atrophy	OMIM:620075
Normokalemic Periodic Paralysis	Periodic paralysis	OMIM:170600
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Nonproductive cough, Uveitis, Leukopenia, Hyp...	ORPHA:99826
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T...	ORPHA:470
Scrub Typhus	Anterior uveitis, Skin rash, Dyspnea, Myocarditis, Splenomegaly, Lymphadenopathy, Restrictive ven...	ORPHA:83317
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,...	ORPHA:486
Von Hippel-Lindau Disease	Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom...	ORPHA:892
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Orthostatic hypotension, D...	ORPHA:95409
Indifference To Pain, Congenital, Autosomal Recessive	Hyposmia, Anosmia	OMIM:243000
Lamellar Ichthyosis	Sparse hair, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, Cognitive impairment	ORPHA:313
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Polycystic ovaries, Oligomenorrhea, Hepatic steatosis	ORPHA:79085
Dengue Fever	Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cerebral hemorrhage, Cardiorespi...	ORPHA:99828
Congenital Factor V Deficiency	Gastrointestinal hemorrhage, Metrorrhagia, Epistaxis, Intracranial hemorrhage, Hematochezia, Meno...	ORPHA:326
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia	OMIM:619057
Hennekam-Beemer Syndrome	Wide nose, Telangiectasia of the skin, Pneumonia, Long nose, Wide nasal bridge, Respiratory insuf...	ORPHA:2135
Ichthyosis, Congenital, Autosomal Recessive 1	Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia	OMIM:242300
Acrofacial Dysostosis, Palagonia Type	Sparse eyelashes, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sparse lateral ey...	ORPHA:1787
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Coronary artery ather...	OMIM:144010
Hereditary Mucoepithelial Dysplasia	Sparse hair, Alopecia, Fine hair	ORPHA:1839
Alexander Disease	Ataxia, Facial palsy, Clonus, Aqueductal stenosis, Tremor, Chorea, Hydrocephalus, Abnormal pyrami...	ORPHA:58
Atrial Septal Defect, Coronary Sinus Type	Bundle branch block, Left-to-right shunt, Transient ischemic attack, Abnormally loud pulmonic com...	ORPHA:99104
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Cutis Laxa, Autosomal Recessive, Type Iiia	Sparse hair, Athetosis	OMIM:219150
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Arteriosclerosis, Skin rash, Confusion	ORPHA:220295
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Sparse facial hair, Sparse axillary hair	OMIM:608154
Slc35A1-Cdg	Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu...	ORPHA:238459
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cerebellar dysplasia, Hydrocephalus, Cerebellar hypoplasia, Myoclonus, Spasticity, Pachygyria, Po...	OMIM:253280
De Barsy Syndrome	Sparse hair, Athetosis, Cerebellar vermis hypoplasia, Progressive cerebellar ataxia	ORPHA:2962
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Metrorrhagia, Epistaxis, Impaired ADP-induced platelet aggregatio...	OMIM:614074
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, P...	ORPHA:90790
Fanconi Anemia, Complementation Group F	Pneumonia, Decreased response to growth hormone stimulation test, Cryptorchidism, Patent ductus a...	OMIM:603467
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	ORPHA:596
Listeriosis	Respiratory distress, Liver abscess, Granulomatosis, Conjunctivitis, Cholecystitis, Infectious en...	ORPHA:533
O'Sullivan-Mcleod Syndrome	Tremor, Somatic sensory dysfunction, Fasciculations	ORPHA:99965
Relapsing Fever	Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thro...	ORPHA:91547
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Arteria lusoria, Recurrent aspiration pneumonia, Neonatal respiratory distress, Psoriasiform derm...	ORPHA:221139
Rapp-Hodgkin Syndrome	Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive...	OMIM:129400
Congenital Multicore Myopathy With External Ophthalmoplegia	Recurrent respiratory infections, Small scrotum, Pneumonia, Cryptorchidism, Abnormal respiratory ...	ORPHA:98905
Noonan Syndrome 6	Sparse hair, Curly hair, Long eyebrows, Low posterior hairline	OMIM:613224
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Braddock-Carey Syndrome 1	Sparse hair, Curly hair, Spastic diplegia	OMIM:619980
Lacrimoauriculodentodigital Syndrome	Choanal atresia, Cryptorchidism, Patent ductus arteriosus, Anosmia, Keratoconjunctivitis, Arthrit...	ORPHA:2363
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Lethargy, Abnormal posturing	OMIM:614857
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Sparse hair, Dystonia	OMIM:614105
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Absent outer dynein arms, Pulmonary artery st...	OMIM:615067
Progressive Supranuclear Palsy	Tremor, Rigidity, Unsteady gait, Bradykinesia, Blepharospasm, Dementia, Falls, Cognitive impairme...	ORPHA:683
Lelis Syndrome	Yellow nails, Absent lower eyelashes, Nail dystrophy, Sparse hair, Abnormal toenail morphology, S...	ORPHA:140936
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan...	OMIM:168000
Nipah Virus Disease	Respiratory distress, Recurrent pharyngitis, Hypotension, Cough, Infectious encephalitis	ORPHA:99825
Cocaine Intoxication	Respiratory distress, Prolonged QRS complex, Elevated circulating creatine kinase concentration, ...	ORPHA:90068
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Increased circulating antibody level, Hypoalbuminemia, ...	ORPHA:86816
Shwachman-Diamond Syndrome	Normocytic anemia, Sinusitis, Aplastic anemia, Decreased response to growth hormone stimulation t...	ORPHA:811
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Highly arched eyebrow, Synophrys, Dystrophic toenail, Nail dystrophy, Sparse hair, Dyst...	ORPHA:3253
Neonatal Alloimmune Neutropenia	Jaundice, Neutropenia in presence of anti-neutropil antibodies, Pneumonia	ORPHA:464370
Fusariosis	Fasciitis, Sinusitis, Myositis, Pneumonia, Maculopapular exanthema, Productive cough, Keratitis, ...	ORPHA:228119
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cerebellar hypoplasia, S...	ORPHA:2108
Cockayne Syndrome Type 3	Hepatomegaly, Narrow nose, Progressive neurologic deterioration, Splenomegaly, Subdural hemorrhag...	ORPHA:90324
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Recurrent respiratory infections, Narrow nasal bridge, Hypogonadotropic hyp...	ORPHA:177907
Congenital Enterovirus Infection	Respiratory distress, Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Throm...	ORPHA:292
Cockayne Syndrome A	Cerebellar atrophy, Dry hair, Ataxia, Tremor, Cerebral atrophy, Dementia, Gait disturbance, Spars...	OMIM:216400
Cryptococcosis	Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary H...	ORPHA:1546
Mercury Poisoning	Respiratory distress, Tachycardia, Confusion, Dyspnea, Hypertension, Hypokalemia, Respiratory fai...	ORPHA:330021
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Atelectasis, Abnormal heart rate...	ORPHA:70588
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Abnormal external genitalia, Hyperkalemia, Abnormal circul...	ORPHA:556037
Sepsis In Premature Infants	Hepatomegaly, Increased circulating interleukin 6 concentration, Tachycardia, Abnormal mucociliar...	ORPHA:90051
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Sparse hair, Dandy-Walker malformation	OMIM:302960
Liver Disease, Severe Congenital	Chronic gastritis, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Hypocalce...	OMIM:619991
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Enlarged ovaries, Skin rash, Pneumonia, Decreased circu...	ORPHA:2298
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Curly hair, Slow-growing hair, Highly arched eyebrow, Low posterior hairline, Chiari type I malfo...	OMIM:617506
Omenn Syndrome	Hepatomegaly, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Lymphadenopathy, ...	ORPHA:39041
Cystic Fibrosis	Male infertility, Hepatomegaly, Nasal polyposis, Reduced forced expiratory volume in one second, ...	OMIM:219700
Parkinson Disease, Late-Onset	Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dementia,...	OMIM:168600
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Hypoplastic...	OMIM:614941
Autosomal Dominant Optic Atrophy And Cataract	Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Extrapyramidal muscular rigidity...	ORPHA:67036
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Osteoarthritis, Thrombocytopenia, Abnorm...	ORPHA:77259
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Abnormal external genitalia, Hyperkalemia, Abnormal circul...	ORPHA:556030
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Wheezing, Lymphadenopathy, ...	ORPHA:79456
Sporadic Creutzfeldt-Jakob Disease	Respiratory failure requiring assisted ventilation, Confusion, Dementia, Cognitive impairment, Me...	ORPHA:204
Waardenburg Syndrome, Type 4C	Lacrimal gland hypoplasia, Cryptorchidism, Anosmia, Hypogonadism	OMIM:613266
Occipital Horn Syndrome	Venous insufficiency, Jaundice, Hepatitis, Cholestasis, Abnormality of the sense of smell, Esopha...	ORPHA:198
Asthma, Short Stature, And Elevated Iga	Asthma, Increased circulating IgA level	OMIM:208600
Hypokalemic Periodic Paralysis, Type 2	Periodic paralysis	OMIM:613345
Trichothiodystrophy 1, Photosensitive	Brittle hair, Trichoschisis, Fine hair, Fragile nails, Nail dystrophy, Small nail, Sparse hair, T...	OMIM:601675
Combined Oxidative Phosphorylation Deficiency 25	Cerebellar atrophy, Anteverted nares, Depressed nasal bridge, Hypoplasia of the pons, Intraventri...	OMIM:616430
Lujo Hemorrhagic Fever	Shock, Respiratory distress, Maculopapular exanthema, Skin rash, Elevated circulating C-reactive ...	ORPHA:319213
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Perry Syndrome	Dementia, Central hypoventilation, Hypotension	ORPHA:178509
Infantile Neuroaxonal Dystrophy	Cerebellar atrophy, Psychomotor deterioration, Short attention span, Cerebellar gliosis, Apneic e...	ORPHA:35069
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Abnormal cerebellum morphology, Coronary artery atherosclerosis, Renal artery stenosis, Cerebral ...	OMIM:209010
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Neutropenia, Nephritis, Infecti...	ORPHA:73263
Premature Ovarian Failure 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th...	OMIM:615724
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend...	OMIM:617168
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto...	ORPHA:251510
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Hyposmia, Recurrent skin infections	OMIM:616488
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiac arrest, Ventricular tac...	OMIM:212138
Tetrasomy 12P	Sparse hair, Sparse eyebrow	ORPHA:884
Hypotrichosis 14	Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair	OMIM:618275
Fowler Urethral Sphincter Dysfunction Syndrome	Acne, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea	ORPHA:2795
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair	ORPHA:69735
Toxin-Mediated Infectious Botulism	Cerebral palsy, Diaphragmatic paralysis, Paralysis	ORPHA:230800
Sarcoidosis, Susceptibility To, 1	Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Abno...	OMIM:181000
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent respiratory infections, Hypospadias, Pneumonia, Cardiac conduction abnormality, Cryptor...	ORPHA:353281
Pheochromocytoma/Paraganglioma Syndrome 3	Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para...	OMIM:605373
Cushing Disease	Adrenal hyperplasia, Acne, Paradoxical increased cortisol secretion on dexamethasone suppression ...	ORPHA:96253
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Decreased response to growth hor...	ORPHA:1855
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hand tremor, Periodic paralysis	OMIM:609153
Chops Syndrome	Anteverted nares, Cryptorchidism, Patent ductus arteriosus, Splenomegaly, Anomalous pulmonary ven...	OMIM:616368
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H...	OMIM:272750
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Sparse hair, Cerebral atrophy, Alopecia, Fragile nails	OMIM:242150
Fragile X-Associated Tremor/Ataxia Syndrome	Abnormal brainstem morphology, Hypertension, Impotence, Dementia, Hypotension, Memory impairment,...	ORPHA:93256
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased fertil...	OMIM:269700
Gabriele-De Vries Syndrome	Waddling gait, Tremor, Lateral ventricle dilatation, Tip-toe gait, Attention deficit hyperactivit...	OMIM:617557
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Cerebellar atrophy, Abnormal circulating carnitine concentration, Aspiration pneumonia, Decreased...	ORPHA:431361
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Hyperkale...	ORPHA:361
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Autoimmune hemolytic anemia, Sinusitis, Premature ovarian insufficie...	OMIM:251260
Rhizomelic Chondrodysplasia Punctata	Alopecia, Sparse body hair	ORPHA:177
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea,...	ORPHA:25
Incontinentia Pigmenti	Ridged nail, Alopecia, Supernumerary nipple, Nail pits, Fine hair, Coarse hair, Breast aplasia, H...	OMIM:308300
Olmsted Syndrome 1	Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis	OMIM:614594
Opitz Gbbb Syndrome	Bifid scrotum, Short attention span, Enlarged ovaries, Hypospadias, Anteverted nares, Aplasia/Hyp...	ORPHA:2745
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular f...	ORPHA:100080
Chédiak-Higashi Syndrome	Cerebellar atrophy, Somatic sensory dysfunction, Ataxia, Parkinsonism, Decreased nerve conduction...	ORPHA:167
Kid Syndrome	Cerebellar vermis hypoplasia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Onych...	ORPHA:477
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hypoalbuminemia, Hepatic fibrosis, Ne...	ORPHA:171
Addison Disease	Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Orthostatic hypotension, P...	ORPHA:85138
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Medial calcification of large arteries, T lymphocytopenia, Infectious encephalitis, Autoimmune th...	ORPHA:391487
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl...	OMIM:614878
Koolen-De Vries Syndrome Due To A Point Mutation	Decreased response to growth hormone stimulation test, Pineal cyst, Chiari type I malformation, A...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Pineal cyst, Chiari type I malformation, A...	ORPHA:363958
Meningococcal Meningitis	Shock, Neonatal respiratory distress, Skin rash, Elevated circulating C-reactive protein concentr...	ORPHA:33475
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Speech apraxia, Ataxia, Tremor, Dysplastic corpus callosum, Cerebellar hypoplasia	OMIM:300967
Lipodystrophy, Congenital Generalized, Type 1	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Decreased fertility in females, Splenomeg...	OMIM:608594
Alveolar Echinococcosis	Pulmonary cyst, Liver abscess, Cholangitis, Portal hypertension, Eosinophilia, Pancreatic cysts, ...	ORPHA:284
Trichorhinophalangeal Syndrome, Type I	Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp...	OMIM:190350
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A...	ORPHA:2975
Shigellosis	Hyponatremia, Pneumonia, Myocarditis, Peritonitis, Leukocytosis, Thrombocytopenia, Abnormal blood...	ORPHA:810
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity	OMIM:618527
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Abnormal ovarian m...	ORPHA:95699
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Sparse hair, Hypoplastic nipples, Small nail	OMIM:273400
Chromosome 5Q12 Deletion Syndrome	Patent ductus arteriosus, Low hanging columella, Hypotension, Prominent nose	OMIM:615668
Aregenerative Anemia	Pancytopenia, Dyspnea, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Dementia, Bone m...	ORPHA:101096
19Q13.11 Microdeletion Syndrome	Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Sparse ...	ORPHA:217346
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Raynaud phenomenon, Neu...	OMIM:607944
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Increased circulating interleukin 6 concentration, Acute colitis,...	ORPHA:544482
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Nonproductive cough, Abnormal EKG, Patent ductus arteriosus,...	ORPHA:980
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Sparse hair, Hyperconvex nail	OMIM:619721
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Dyspnea, Hepatitis, Mel...	ORPHA:319218
Cholera	Hyponatremia, Tachycardia, Tachypnea, Abnormal blood ion concentration, Hypokalemia, Hypovolemic ...	ORPHA:173
Hypercholesterolemia, Familial, 1	Increased LDL cholesterol concentration, Xanthelasma, Coronary artery atherosclerosis	OMIM:143890
Systemic Capillary Leak Syndrome	Pericarditis, Pulmonary edema, Myocarditis, Leukocytosis, Cardiorespiratory arrest, Pleural effus...	ORPHA:188
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Cardiac arrest, Eosinophilia, Pustule, Dyspnea, Myocarditis, Hepatitis, Erythroderma, ...	ORPHA:139402
Chromosome 5P13 Duplication Syndrome	Sparse hair, Low posterior hairline	OMIM:613174
Orofaciodigital Syndrome Type 1	Alopecia, Brittle hair, Ataxia, Tremor, Coarse hair, Dystonia, Sparse hair, Dandy-Walker malforma...	ORPHA:2750
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular f...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular f...	ORPHA:100082
Ifap Syndrome 2	Sparse hair, Nail dystrophy, Atrichia	OMIM:619016
Caffey Disease	Increased circulating antibody level, Respiratory insufficiency	ORPHA:1310
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Recurrent respiratory infections, Hyperkalemia, Hyperaldosteronism, Hypotension	OMIM:264350
Gastrocutaneous Syndrome	Depressed nasal bridge, Coronary artery atherosclerosis	ORPHA:2069
Zika Virus Disease	Maculopapular exanthema, Skin rash, Thrombocytopenia, Increased circulating IgM level, Arthritis,...	ORPHA:448237
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Pde4D Haploinsufficiency Syndrome	Depressed nasal bridge, Hypospadias, Prominent nose, Cryptorchidism, Hypotension, Prominent nasal...	ORPHA:439822
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ...	ORPHA:2968
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Abnormality of the menstrual cycle, Orchitis, Ur...	ORPHA:556
Adams-Oliver Syndrome	Alopecia, Aplastic/hypoplastic toenail, Hemiparesis, Hypertonia, Absent fingernail, Sparse hair, ...	ORPHA:974
Cutis Laxa, Autosomal Recessive, Type Iiib	Sparse hair, Athetosis, Fine hair	OMIM:614438
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Bronchogenic Cyst	Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Dyspnea, A...	ORPHA:2357
Olmsted Syndrome 2	Sparse hair, Woolly hair, Alopecia universalis	OMIM:619208
Cockayne Syndrome B	Dry hair, Ataxia, Cerebellar calcifications, Abnormal hair morphology, Tremor, Cerebral atrophy, ...	OMIM:133540
Degcags Syndrome	Prominent nose, Leukopenia, Iron deficiency anemia, Hepatomegaly, Hypospadias, Anteverted nares, ...	OMIM:619488
Cerebrooculofacioskeletal Syndrome 2	Sparse hair	OMIM:610756
Agel Amyloidosis	Deficit in phonologic short-term memory, Nail dystrophy, Ataxia, Sparse hair	ORPHA:85448
Neuroleptic Malignant Syndrome	Hyponatremia, Tachycardia, Thrombocytosis, Elevated circulating creatine kinase concentration, Pu...	ORPHA:94093
Interstitial Cystitis	Dyspareunia, Abnormal labia morphology, Abnormality of the menstrual cycle, Urinary bladder infla...	ORPHA:37202
Trichorhinophalangeal Syndrome Type 1	Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails	ORPHA:77258
Erythrocytosis, Familial, 2	Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Stroke,...	OMIM:263400
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Sudden episodic apnea, Elevated circulating acylcarnitine concentration, Ventricula...	ORPHA:159
Chromosome Xq27.3-Q28 Duplication Syndrome	Sparse body hair	OMIM:300869
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne...	ORPHA:699
Rodrigues Blindness	Sparse hair, Fine hair	OMIM:268320
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Hepatomegaly, Eosinophilia,...	ORPHA:98849
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Chiari type I malformation, Otitis media, Aspiration, Hypospadias, Cryptorchidism, Patent ductus ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Chiari type I malformation, Otitis media, Aspiration, Hypospadias, Cryptorchidism, Patent ductus ...	ORPHA:353277
Waardenburg Syndrome, Type 2E	Anosmia, Vascular dilatation	OMIM:611584
Hypokalemic Periodic Paralysis, Type 1	Periodic paralysis	OMIM:170400
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Nail...	OMIM:106260
Trichorhinophalangeal Syndrome, Type Iii	Sparse hair, Sparse lateral eyebrow	OMIM:190351
Mounier-Kühn Syndrome	Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis	ORPHA:3347
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Marshall-Smith Syndrome	Apnea, Choanal atresia, Anteverted nares, Depressed nasal bridge, Bilateral cryptorchidism, Crypt...	OMIM:602535
Immunodeficiency 40	Hepatomegaly, Respiratory tract infection, Recurrent pneumonia, T lymphocytopenia, Interstitial p...	OMIM:616433
Primary Biliary Cholangitis	Orthostatic hypotension, Portal hypertension, Increased circulating IgA level, Conjugated hyperbi...	ORPHA:186
Alpha-Mannosidosis, Infantile Form	Cerebellar atrophy, Aortic regurgitation, Pancytopenia, Short attention span, Depressed nasal bri...	ORPHA:309282
Foodborne Botulism	Cerebral palsy, Diaphragmatic paralysis, Paralysis	ORPHA:228371
Early Infantile Epileptic Encephalopathy	Cerebellar atrophy, Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Spasticity	ORPHA:1934
Borjeson-Forssman-Lehmann Syndrome	Sparse hair, Thick eyebrow	ORPHA:127
Oculodentodigital Dysplasia	Dry hair, Slow-growing hair, Ataxia, Paraparesis, Fine hair, Tetraparesis, Sparse hair, Spasticit...	OMIM:164200
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Trichothiodystrophy 3, Photosensitive	Bilateral cryptorchidism, Lymphopenia, Neutropenia, Increased circulating IgA level	OMIM:616395
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent eyebrow, Alopecia, Thin fingernail, Abnormal eyelash morphology, Abnormal hair morphology,...	ORPHA:2273
African Trypanosomiasis	Conjunctivitis, Iritis, Delirium, Abnormal EKG, Hepatomegaly, Lymphadenopathy, Hepatosplenomegaly...	ORPHA:3385
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Sparse hair	OMIM:607626
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Telangiectasia, Interstitial pneumonitis, Granulocytopenia,...	ORPHA:454831
Premature Aging Syndrome, Penttinen Type	Retrocerebellar cyst, Sparse hair	OMIM:601812
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Sparse hair, Sparse eyelashes, Sparse eyebrow	OMIM:224900
Odontoonychodermal Dysplasia	Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Fine hair, Nail ...	OMIM:257980
Glioblastoma	Paralysis	ORPHA:360
Basel-Vanagaite-Smirin-Yosef Syndrome	Sparse hair, Spasticity, Cerebral atrophy	OMIM:616449
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Sparse hair, Brittle hair, Absent nipple, Absent hair	OMIM:614940
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Chronic otitis media, T...	ORPHA:169090
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Choanal atresia, Prominent nasal bridge, Bilateral cryptorchidism, Patent ductus arteriosus, Recu...	OMIM:300472
Nicolaides-Baraitser Syndrome	Short attention span, Dry hair, Absent eyebrow, Sparse scalp hair, Low anterior hairline, Low pos...	OMIM:601358
Nocardiosis	Respiratory distress, Liver abscess, Nonproductive cough, Lymphadenitis, Conjunctivitis, Emphysem...	ORPHA:31204
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Gait disturbance, Fasciculations, Pa...	ORPHA:682
Gaucher Disease, Type Ii	Hepatomegaly, Apnea, Progressive neurologic deterioration, Splenomegaly, Thrombocytopenia, Strido...	OMIM:230900
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Oculomotor apraxia, Low posterio...	OMIM:115150
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:90695
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Tricuspid regurgitation, Depressed nasal bridge, Pneumonia, Splenomegaly, Recurrent...	OMIM:253200
Igg4-Related Pachymeningitis	Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Increased circula...	ORPHA:449427
Pseudohypoaldosteronism Type 2	Periodic paralysis	ORPHA:757
Cardiofaciocutaneous Syndrome	Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Low posterior hairline, Fine hair, ...	ORPHA:1340
Coffin-Siris Syndrome	Hypospadias, Thick nasal alae, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Cryptor...	ORPHA:1465
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Sparse hair, Sparse eyebrow	OMIM:619869
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Sparse hair, Alopecia, Abnormal fingernail morphology	ORPHA:659
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb...	OMIM:615530
Down Syndrome	Sparse hair, Gait disturbance, Impaired pain sensation	ORPHA:870
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Recurrent aphthous stoma...	ORPHA:2688
Cardiomyopathy, Familial Restrictive, 3	Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation...	OMIM:612422
Cartilage-Hair Hypoplasia	Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair	OMIM:250250
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Recurrent respiratory infections, Chronic lung disease, Cerebellar vermis hypoplasia, Apnea, Hypo...	ORPHA:397715
Metachromatic Leukodystrophy, Adult Form	Short attention span, Progressive psychomotor deterioration, Dementia, Cholecystitis, Neoplasm of...	ORPHA:309271
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Optic atrophy, A...	OMIM:234200
Pure Autonomic Failure	Abnormality of circulating catecholamine level	ORPHA:441
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac...	OMIM:610910
Necrotizing Enterocolitis	Hyponatremia, Shock, Apnea, Peritonitis, Leukocytosis, Bradycardia, Hypotension, Neutropenia, Thr...	ORPHA:391673
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular f...	ORPHA:100075
Gracile Bone Dysplasia	Asplenia, Micropenis, Hypoplastic spleen, Hypocalcemia	OMIM:602361
Chilton-Okur-Chung Neurodevelopmental Syndrome	Sparse scalp hair, Cerebellar vermis hypoplasia, Highly arched eyebrow, Sparse eyebrow, Synophrys...	OMIM:619841
Intellectual Developmental Disorder, Autosomal Dominant 66	Sparse hair	OMIM:619910
Chromosome 19Q13.11 Deletion Syndrome, Distal	Sparse hair, Nail dysplasia, Sparse eyelashes, Sparse eyebrow	OMIM:613026
Encephalitis Lethargica	Mental deterioration, Increased circulating antibody level, Bradycardia, Hyperventilation	ORPHA:83600
Orofaciodigital Syndrome I	Alopecia, Dry hair, Cerebral atrophy, Sparse hair, Cerebellar cyst	OMIM:311200
Colchicine Poisoning	Hyponatremia, Respiratory distress, Congestive heart failure, Myocarditis, Leukocytosis, Hypovole...	ORPHA:31824
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Elevated circulating crea...	OMIM:620300
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Pancreatoblasto...	ORPHA:99889
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Sparse body hair	ORPHA:2234
Dpagt1-Cdg	Ataxia, Akinesia, Tremor, Abnormal cerebellum morphology, Inability to walk, Optic atrophy, Hyper...	ORPHA:86309
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Lower limb spasticity, Broad-based gait, Fine hair, Hypertonia, Sparse hair	ORPHA:251028
Complement Factor B Deficiency	Peritonitis, Pneumonia, Decreased circulating complement factor B concentration	OMIM:615561
Williams Syndrome	Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal cerebral vascul...	ORPHA:904
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Sparse hair, Alopecia, Abnormal toenail morphology	ORPHA:1005
Female Restricted Epilepsy With Intellectual Disability	Abnormal social behavior	ORPHA:101039
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Pneumonia, Restrictive ventilatory defect, Elevated circulating creatine kinase concentration	OMIM:253700
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Sparse hair, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, Fine hair	OMIM:614091
Gm1 Gangliosidosis Type 1	Depressed nasal bridge, Broad nasal tip, Hepatosplenomegaly, Cardiomyopathy, Aspiration pneumonia...	ORPHA:79255
Mucoepithelial Dysplasia, Hereditary	Fibrocystic lung disease, Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous can...	OMIM:158310
Costello Syndrome	Deep-set nails, Curly hair, Thin nail, Concave nail, Cerebral atrophy, Chiari type I malformation...	OMIM:218040
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp...	OMIM:305100
Infant Botulism	Hyponatremia, Cardiac arrest, Respiratory insufficiency due to muscle weakness, Dyspnea, Hyperten...	ORPHA:178478
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Splenomegaly, Leukocytos...	OMIM:260920
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Confusion, Congestive ...	ORPHA:31826
Ectodermal Dysplasia-Blindness Syndrome	Sparse hair, Abnormal fingernail morphology, Fine hair	ORPHA:1806
Corticosteroid-Binding Globulin Deficiency	Decreased circulating cortisol level, Hypertension, Hypokalemia, Hypotension, Anemia	OMIM:611489
White-Sutton Syndrome	Sparse hair, Cerebral atrophy, Waddling gait	OMIM:616364
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Cerebellar atrophy, Anteverted nares, Elevated circulating alpha-fetoprotein concentration, Paten...	ORPHA:280633
Gaucher Disease Type 3	Recurrent respiratory infections, Pancytopenia, Hepatomegaly, Splenomegaly, Thrombocytopenia, Abn...	ORPHA:77261
Poliomyelitis	Paralysis, Inability to walk, Paraparesis, Hyperkinetic movements, Paresthesia, Fasciculations	ORPHA:2912
Geleophysic Dysplasia 3	Hepatomegaly, Anteverted nares, Pneumonia, Depressed nasal bridge, Dyspnea, Bulbous nose, Wide na...	OMIM:617809
Inhalational Anthrax	Respiratory distress, Confusion, Abnormal sweat gland morphology, Dyspnea, Hypotension, Internal ...	ORPHA:247257
Lissencephaly Due To Lis1 Mutation	Dilation of Virchow-Robin spaces, Cerebellar vermis hypoplasia, Neonatal hyperbilirubinemia, Aspi...	ORPHA:95232
Noonan Syndrome 14	Sparse hair, Curly hair, Sparse eyebrow, Low posterior hairline	OMIM:619745
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Anteverted nares, Depressed nasal bridge, Recurrent...	ORPHA:314655
Multiple Myeloma	Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con...	ORPHA:29073
Mend Syndrome	Prominent nasal bridge, Cryptorchidism, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol,...	ORPHA:401973
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hepatitis, Hypotension, Prolong...	ORPHA:199296
Mandibuloacral Dysplasia With Type B Lipodystrophy	Sparse hair, Alopecia, Brittle hair	OMIM:608612
Mandibuloacral Dysplasia	Sparse hair, Alopecia, Hypoplastic fingernail	ORPHA:2457
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Acute pancreatitis, Apnea, Cardiac arrest, Leukocytosis, Dilated cardiomyopathy, Ta...	ORPHA:20
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Nail dystrophy,...	ORPHA:1010
Ruijs-Aalfs Syndrome	Premature graying of hair, Sparse hair	OMIM:616200
Glass Syndrome	Sparse hair, Broad-based gait, Long eyelashes, Nail dysplasia	OMIM:612313
Hallermann-Streiff Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Choreoathetosis, Sparse hair	OMIM:234100
Oligodontia-Colorectal Cancer Syndrome	Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair	OMIM:608615
Pyoderma Gangrenosum	Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe...	ORPHA:48104
Macs Syndrome	Sparse hair, Alopecia, Sparse eyebrow	OMIM:613075
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Cerebellar vermis hypoplasia, Ataxia, Dystonia, Tremor, Partial agenesis of the corpus callosum, ...	OMIM:220111
Short Syndrome	Sparse hair, Alopecia	ORPHA:3163
Hydroxykynureninuria	Tachycardia, Breathing dysregulation, Abnormal circulating tryptophan concentration, Hypotension,...	ORPHA:79155
Beta-Ketothiolase Deficiency	Hepatomegaly, Leukocytosis, Tachypnea, Hyperammonemia, Hypertension, Hyperuricemia, Hypotension, ...	ORPHA:134
Aredyld Syndrome	Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:1133
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Periodic paralysis	OMIM:613239
Serotonin Syndrome	Tachycardia, Confusion, Tachypnea, Hypertension, Hypotension, Mental deterioration, Delirium	ORPHA:43116
Roifman-Chitayat Syndrome	Arthritis, Wide nasal bridge, Depressed nasal bridge, Pneumonia	OMIM:613328
Scarf Syndrome	Sparse hair, Hypoplastic nipples, Low posterior hairline	ORPHA:3134
Cornelia De Lange Syndrome 1	Hypospadias, Pneumonia, Choanal atresia, Depressed nasal bridge, Anteverted nares, Cryptorchidism...	OMIM:122470
Trichohepatoenteric Syndrome 1	Curly hair, Brittle hair, Fine hair, Cognitive impairment, Sparse hair, Woolly hair, Trichorrhexi...	OMIM:222470
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension	OMIM:620125
Cog1-Cdg	Cerebellar vermis hypoplasia, Cerebellar dysplasia	ORPHA:263508
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension	OMIM:177735
Mucopolysaccharidosis Type 3	Recurrent sinopulmonary infections, Hepatomegaly, Progressive neurologic deterioration, Adenoidit...	ORPHA:581
Porphyria, Acute Intermittent	Respiratory paralysis, Paresthesia, Paralysis	OMIM:176000
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline	OMIM:250410
Gaucher Disease	Hepatomegaly, Pancytopenia, Osteomyelitis, Elevated circulating C-reactive protein concentration,...	ORPHA:355
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Tricuspid stenosis, Chronic noninfectious lymphadenopathy, Asthma, Heart murmur, Ov...	ORPHA:100079
Lamb-Shaffer Syndrome	Abnormal social behavior, Broad nasal tip	ORPHA:530983
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Vaginal neoplasm, Hypoperistal...	ORPHA:1018
Woodhouse-Sakati Syndrome	Alopecia, Fine hair, Choreoathetosis, Abnormality of extrapyramidal motor function, Dystonia, Spa...	OMIM:241080
Oculodentodigital Dysplasia, Autosomal Recessive	Sparse hair, Sparse eyelashes, Fine hair	OMIM:257850
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Aspiration p...	OMIM:619167
Papillon-Lefèvre Syndrome	Abnormal fingernail morphology, Nail dystrophy, Abnormality of the nail, Sparse body hair, Genera...	ORPHA:678
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ...	OMIM:268400
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Paralysis	ORPHA:83601
Wiedemann-Rautenstrauch Syndrome	Prominent scalp veins, Recurrent respiratory infections, Hypertriglyceridemia, Hypospadias, Pneum...	OMIM:264090
Tuberous Sclerosis Complex	Respiratory distress, Respiratory tract infection, Pituitary adenoma, Parathyroid hyperplasia, Hy...	ORPHA:805
Hamamy Syndrome	Sparse eyelashes, Sparse eyebrow, Low posterior hairline, Sparse hair, Abnormal number of hair wh...	OMIM:611174
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paralysis	OMIM:612300
Nablus Mask-Like Facial Syndrome	Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Sparse eyebrow, Low anterior hairline,...	OMIM:608156
Opitz-Kaveggia Syndrome	Fine hair, Frontal upsweep of hair, Attention deficit hyperactivity disorder, Sparse hair, Spasti...	OMIM:305450
Inhalational Botulism	Paralysis	ORPHA:254504
Wrinkly Skin Syndrome	Cerebellar vermis hypoplasia, Slurred speech, Progressive cerebellar ataxia, Sparse hair, Dandy-W...	ORPHA:2834
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Waddling gait, Nail dysplasia, Small nail, Sparse hair, Breast hypoplasia	OMIM:614813
Inflammatory Pseudotumor Of The Liver	Elevated circulating alpha-fetoprotein concentration, Increased hepatitis B virus antibody level,...	ORPHA:90003
Marshall Syndrome	Sparse hair, Sparse eyelashes, Sparse eyebrow	ORPHA:560
Fontaine Progeroid Syndrome	Prominent superficial veins, Cerebellar vermis hypoplasia, Tricuspid regurgitation, Small scrotum...	OMIM:612289
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,...	OMIM:145600
Osteogenesis Imperfecta, Type Xx	Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow	OMIM:618644
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Ataxia, Confusion, Action tremor, Tremor, Synophrys, Chiari type I malformatio...	ORPHA:3455
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Periodic paralysis	OMIM:188580
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:95494
Sandifer Syndrome	Abnormal posturing, Torticollis	ORPHA:71272
Ichthyosis, Congenital, Autosomal Recessive 2	Paralysis	OMIM:242100
Scarf Syndrome	Sparse hair, Low anterior hairline, Hypoplastic nipples, Low posterior hairline	OMIM:312830
Plague	Respiratory distress, Chapped lip, Tachycardia, Hepatomegaly, Skin rash, Hematemesis, Lymphadenit...	ORPHA:707
Goldberg-Shprintzen Syndrome	Highly arched eyebrow, Synophrys, Sparse hair, Thick eyebrow, Limb hypertonia	OMIM:609460
Unilateral Polymicrogyria	Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb...	ORPHA:268943
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hyperconvex fingernails...	ORPHA:1071
Gapo Syndrome	Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Sparse hair, Bre...	OMIM:230740
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Sparse scalp hair, Loose anagen hair, Long eyelashes, Attention deficit hyperactivity...	OMIM:607721
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Sparse body hair	ORPHA:3068
Early-Onset Autosomal Dominant Alzheimer Disease	Confusion, Dementia, Semantic dementia, Memory impairment, Abnormal social behavior	ORPHA:1020
Angiostrongyliasis	Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ...	ORPHA:74
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Neonatal respiratory distress, Prominent nose, Precocious puberty, Cryptorchidism, ...	ORPHA:96191
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Cysticercosis	Confusion, Iridocyclitis, Dementia, Stroke, Increased circulating antibody level, Mental deterior...	ORPHA:1560
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension	OMIM:203400
Paramyotonia Congenita Of Von Eulenburg	Periodic hypokalemic paresis	ORPHA:684
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Prolonged QRS complex, Apnea, Left axis deviation, Congestive heart failure...	OMIM:261740
Naxos Disease	Subungual hyperkeratosis, Curly hair, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S...	OMIM:601214
Iga Pemphigus	Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc...	ORPHA:555905
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,...	ORPHA:70
Dyskeratosis Congenita	Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Abnormal eyelash morpholog...	ORPHA:1775
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypoventilation, Apnea, Decreased serum iron, Breathing dysregulation, Precocious puberty, Crypto...	ORPHA:438213
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Broad-based gait, Highly arched eyebrow, Cerebral atrophy, Fine hair, Gait ataxia, Hypoplastic ni...	OMIM:280000
Rift Valley Fever	Skin rash, Hematemesis, Thrombocytopenia, Jaundice, Retinal hemorrhage, Uveitis, Hepatitis, Melen...	ORPHA:319251
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Granulomatous cholangitis, Ulcerative colitis, Cholestasis, Abnormal intrahepatic bile duct morph...	ORPHA:562639
Bone Marrow Failure Syndrome 3	Sparse hair, Aplasia/Hypoplasia of the eyebrow, Nail dystrophy, Small nail	OMIM:617052
Andersen-Tawil Syndrome	Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Periodic paralysis	ORPHA:37553
Phosphoribosylpyrophosphate Synthetase Superactivity	Sparse hair, Ataxia	OMIM:300661
Menkes Disease	Hypopigmentation of hair, Chorea, Hypertonia, Sparse hair, Woolly hair, Spasticity	ORPHA:565
Childhood Absence Epilepsy	Abnormal social behavior, Attention deficit hyperactivity disorder, Hyperventilation	ORPHA:64280
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Ga...	OMIM:601104
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair	ORPHA:50814
Yellow Fever	Shock, Increased circulating interleukin 6 concentration, Acute pancreatitis, Skin rash, Elevated...	ORPHA:99829
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse scalp hair, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Sparse eyelashes,...	OMIM:210710
Cranioectodermal Dysplasia 3	Sparse hair, Short nail, Broad nail, Fine hair	OMIM:614099
Teebi-Shaltout Syndrome	Sparse hair, Low anterior hairline, Highly arched eyebrow, Slow-growing hair	OMIM:272950
Acute Liver Failure	Shock, Gastrointestinal hemorrhage, Skin rash, Confusion, Jaundice, Abnormal respiratory system p...	ORPHA:90062
Hypermobile Ehlers-Danlos Syndrome	Apnea, Abnormality of the menstrual cycle, Venous insufficiency, Osteoarthritis, Cystocele, Decre...	ORPHA:285
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Elevated circulating creatine kinase concentration, Crackles, Confusion, H...	ORPHA:466650
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia	ORPHA:1578
Rothmund-Thomson Syndrome	Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Small nail, Nail dysplasia, Sparse hair, Abno...	ORPHA:2909
Aa Amyloidosis	Hepatomegaly, Cholestasis, Hypotension	ORPHA:85445
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Short attention span, Highly arched eyebrow, Fine hair, Low posterior hairline, Sparse hair	OMIM:613563
Leptospirosis	Respiratory distress, Hepatomegaly, Pericarditis, Skin rash, First degree atrioventricular block,...	ORPHA:509
Subcorneal Pustular Dermatosis	Pustule, Increased circulating antibody level, Rheumatoid arthritis	ORPHA:48377
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebellar atrophy, Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, As...	OMIM:301072
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Sparse hair	OMIM:615349
Rothmund-Thomson Syndrome Type 1	Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Attention deficit hyperactivity dis...	ORPHA:221008
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Broad-based gait, Paralysis, Hydrocephalus, Spastic paraplegia, Limb ataxia, Hypertonia, Oculomot...	ORPHA:2072
Alpha-Fetoprotein Deficiency	Decreased circulating alpha-fetoprotein concentration	OMIM:615969
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Metachromatic Leukodystrophy, Juvenile Form	Short attention span, Abnormal social behavior, Progressive psychomotor deterioration, Cholecystitis	ORPHA:309263
Encephalocraniocutaneous Lipomatosis	Paralysis, Rigidity, Tetraplegia, Hemiparesis, Hypertonia, Hemiplegia, Spasticity	ORPHA:2396
Gitelman Syndrome	Ataxia, Paresthesia, Paralysis	OMIM:263800
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Abnormal pituita...	ORPHA:64744
Mucolipidosis Ii Alpha/Beta	Brittle hair, Sparse eyebrow, Tip-toe gait, Sparse hair, Cerebral cortical atrophy	OMIM:252500
Focal Dermal Hypoplasia	Ridged nail, Brittle hair, Supernumerary nipple, Patchy alopecia, Chiari malformation, Hypoplasti...	OMIM:305600
Stuve-Wiedemann Syndrome 1	Sparse hair, Impaired pain sensation	OMIM:601559
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Anteverted nares, Congestive ...	ORPHA:444077
Thyrotoxic Periodic Paralysis	Paralysis, Tremor, Tetraplegia, Respiratory paralysis, Periodic hypokalemic paresis	ORPHA:79102
Pmm2-Cdg	Respiratory distress, Cerebellar vermis hypoplasia, Prominent nose, Intracranial hemorrhage, Hype...	ORPHA:79318
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Micro...	ORPHA:244242
Monosomy 22	Sparse hair, Synophrys, Hypertonia	ORPHA:96123
Hawkinsinuria	Sparse hair	OMIM:140350
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Recurrent skin infections, Pneumonia, Dyspnea, Dilated cardiomyopathy, Pneu...	ORPHA:79404
Mosaic Variegated Aneuploidy Syndrome 2	Sparse hair	OMIM:614114
Scalp-Ear-Nipple Syndrome	Sparse axillary hair, Sparse pubic hair, Fine hair, Patchy alopecia, Breast aplasia, Nail dysplas...	OMIM:181270
Lipodystrophy, Familial Partial, Type 7	Sparse scalp hair, Clonus, Babinski sign, Dysmetria, Distal sensory impairment, Gait ataxia, Dysd...	OMIM:606721
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo...	ORPHA:2232
Aromatic L-Amino Acid Decarboxylase Deficiency	Cardiorespiratory arrest, Nasal congestion, Apnea, Hypotension	OMIM:608643
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Aortic regurgitation, Aortic valve stenosis, Increased circulating antibody level	OMIM:114065
Leprosy	Absent eyebrow, Alopecia, Impaired temperature sensation, Dysesthesia, Dissociated sensory loss, ...	ORPHA:548
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,...	ORPHA:95459
Cartilage-Hair Hypoplasia	Sparse hair, Sparse eyebrow, Cognitive impairment	ORPHA:175
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair	OMIM:607812
Andersen Cardiodysrhythmic Periodic Paralysis	Periodic hypokalemic paresis, Periodic paralysis	OMIM:170390
Autosomal Dominant Hypocalcemia	Eczema, Congestive heart failure, Hyperphosphatemia, Hypocalcemia, Hypotension, Hypomagnesemia, A...	ORPHA:428
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Extrahepatic cholestasis, Lymp...	ORPHA:100078
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Short eyelashes, Dystrophic fingernails, Sparse body hair, Dys...	OMIM:150400
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Nai...	OMIM:129900
Chondrodysplasia Punctata, Autosomal Dominant	Sparse hair, Coarse hair	OMIM:118650
Alström Syndrome	Respiratory distress, Decreased response to growth hormone stimulation test, Hypoplasia of the Le...	ORPHA:64
Arboleda-Tham Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Prominent ...	OMIM:616268
Semilobar Holoprosencephaly	Central apnea, Decreased response to growth hormone stimulation test, Proboscis, Depressed nasal ...	ORPHA:220386
Alobar Holoprosencephaly	Central apnea, Decreased response to growth hormone stimulation test, Proboscis, Depressed nasal ...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Decreased response to growth hormone stimulation test, Proboscis, Depressed nasal ...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Decreased response to growth hormone stimulation test, Proboscis, Depressed nasal ...	ORPHA:93924
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibr...	ORPHA:79078
Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hypovolemia, Hyperkalemia, Increased circulating renin lev...	ORPHA:427
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Gout, Hypertension, Tubulointerstitial nephritis, ...	OMIM:174000
Renal Tubular Dysgenesis	Respiratory insufficiency, Pulmonary hypoplasia, Hypotension	OMIM:267430
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Abnormal penis morpholo...	ORPHA:95455
Ablepharon Macrostomia Syndrome	Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Sparse hair, Breast hypoplasia	ORPHA:920
Rothmund-Thomson Syndrome Type 2	Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of ...	ORPHA:221016
Leprechaunism	Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Wide nose, Labial hypertrophy, ...	ORPHA:508
Myhre Syndrome	Sparse hair, Ataxia, Thick eyebrow, Fine hair	OMIM:139210
Intellectual Developmental Disorder, Autosomal Dominant 68	Sparse hair, Attention deficit hyperactivity disorder	OMIM:619934
Cleft Velum	Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Miller-Dieker Lissencephaly Syndrome	Anteverted nares, Cryptorchidism, Wide nasal bridge, Short nose, Recurrent aspiration pneumonia	OMIM:247200
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Confusion, Respirator...	ORPHA:79138
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Elevated circulating C-...	ORPHA:91500
Cranioectodermal Dysplasia 1	Slow-growing hair, Short nail, Thin nail, Fine hair, Sparse hair	OMIM:218330
Chime Syndrome	Sparse hair, Cerebral cortical atrophy, Fine hair	ORPHA:3474
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Sinus bradycardia, Hypopnea, Restrictive ventilatory defect, Aspiration p...	OMIM:619482
Combined Immunodeficiency-Enteropathy Spectrum	Sparse hair, Absent eyebrow, Alopecia of scalp, Nail dystrophy	ORPHA:436252
Normosmic Congenital Hypogonadotropic Hypogonadism	Sparse body hair, Breast hypoplasia	ORPHA:432
Doors Syndrome	Respiratory distress, Small cerebellar cortex, Adrenal hyperplasia, Anteverted nares, Broad nasal...	ORPHA:79500
Branchiooculofacial Syndrome	Agenesis of cerebellar vermis, Supernumerary nipple, Low posterior hairline, Premature graying of...	OMIM:113620
Lenz-Majewski Hyperostotic Dwarfism	Sparse hair, Cerebral cortical atrophy	OMIM:151050
Ectodermal Dysplasia-Skin Fragility Syndrome	Sparse hair, Difficulty walking, Nail dystrophy, Alopecia universalis	ORPHA:158668
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Wide nose, Anteverted nares, Bulbous nose, Cerebellar hypoplasia, Memory impairment, Abnormal soc...	ORPHA:314647
Metachromatic Leukodystrophy, Late Infantile Form	Abnormal social behavior, Cholecystitis	ORPHA:309256
Dihydropyrimidine Dehydrogenase Deficiency	Respiratory failure requiring assisted ventilation, Depressed nasal bridge, Anteverted nares, Pro...	ORPHA:1675
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Alopecia, Rigidity, Loss of eyelashes, Hypertonia, Thin eyebrow, Sparse hair, Spasticity	ORPHA:2636
Renpenning Syndrome 1	Brittle hair, Cerebral atrophy, Sparse hair, Spasticity, Sparse lateral eyebrow	OMIM:309500
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Sparse hair, Loss of ambulation, Unsteady gait, Nail dysplasia	OMIM:616682
Bartter Syndrome, Type 3	Hyperchloriduria, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension	OMIM:607364
Ectodermal Dysplasia And Immunodeficiency 2	Sparse hair, Aplasia of the sweat glands, Sparse scalp hair	OMIM:612132
Lysinuric Protein Intolerance	Sparse hair, Fine hair	OMIM:222700
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Sparse eyebrow, Hypoplastic nipples, Small nail, Nail dystrophy, Sparse hair	OMIM:620186
Kabuki Syndrome 1	Hemolytic anemia, Premature thelarche, Autoimmune thrombocytopenia, Cryptorchidism, Wide nasal br...	OMIM:147920
Cranioectodermal Dysplasia 2	Sparse hair, Sparse eyelashes, Sparse eyebrow	OMIM:613610
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Inspiratory stridor, Hypotension	ORPHA:100050
Scalp-Ear-Nipple Syndrome	Sparse hair, Breast aplasia, Abnormal fingernail morphology	ORPHA:2036
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Sparse hair, Short attention span, Frontal hirsutism	OMIM:617157
Distal Renal Tubular Acidosis	Paralysis	ORPHA:18
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Sparse hair	OMIM:620005
Gitelman Syndrome	Paresthesia, Paralysis	ORPHA:358
Mandibuloacral Dysplasia Progeroid Syndrome	Sparse hair, Nail dystrophy, Sparse eyebrow	OMIM:619127
Primrose Syndrome	Sparse scalp hair, Ataxia, Absent facial hair, Synophrys, Neurodegeneration, Attention deficit hy...	OMIM:259050
Roberts Syndrome	Sparse hair	ORPHA:3103
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ...	ORPHA:2020
Ablepharon-Macrostomia Syndrome	Absent eyebrow, Absent eyelashes, Hypoplastic nipples, Sparse hair, Hypoplastic fingernail	OMIM:200110
Trichorhinophalangeal Syndrome, Type Ii	Sparse scalp hair, Thick eyebrow, Hemiparesis, Sparse hair, Alopecia of scalp, Fragile nails	OMIM:150230
Yunis-Varon Syndrome	Cerebellar vermis hypoplasia, Hypospadias, Absent nipple, Anteverted nares, Cryptorchidism, Heart...	OMIM:216340
Hereditary Sensory And Autonomic Neuropathy Type 4	Short attention span, Fasciitis, Osteomyelitis, Anemia, Abnormality of humoral immunity, Aplasia ...	ORPHA:642
Restrictive Dermopathy	Short nail, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat glands, Sparse or absent eye...	ORPHA:1662
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Sparse pubic hair, Sparse body hair, Sparse axillary hair	ORPHA:90796
Tyrosinemia, Type I	Periodic paralysis	OMIM:276700
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis	OMIM:259730
Pineoblastoma	Paralysis	ORPHA:251909
Menke-Hennekam Syndrome 1	Sparse hair, Long eyelashes, Thick eyebrow	OMIM:618332
Wrinkly Skin Syndrome	Sparse hair, Short nail, Fragile nails	OMIM:278250
Pallister-Killian Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Sparse anter...	OMIM:601803
Roberts-Sc Phocomelia Syndrome	Sparse hair	OMIM:268300

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 Rora

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 Rora.

There are 20 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Epidermal Loss of RORα Enhances Skin Inflammation in a MC903-Induced Mouse Model of Atopic Dermatitis.	International journal of molecular sciences (June 2023)	Rora^{tm1a(EUCOMM)Wtsi}	PMC10298918
Mapping Rora expression in resting and activated CD4+ T cells.	PloS one (May 2021)	Rora^{tm1a(EUCOMM)Wtst}	PMC8130942
Rhinovirus C Infection Induces Type 2 Innate Lymphoid Cell Expansion and Eosinophilic Airway Inflammation.	Frontiers in immunology (April 2021)	Rora^{tm1c(EUCOMM)Wtsi}	PMC8100319
Group 2 Innate Lymphoid Cells Must Partner with the Myeloid-Macrophage Lineage for Long-Term Postviral Lung Disease.	Journal of immunology (Baltimore, Md. : 1950) (July 2020)	Rora^{tm1c(EUCOMM)Wtsi}	PMC7415724
Early-life heterologous rhinovirus infections induce an exaggerated asthma-like phenotype.	The Journal of allergy and clinical immunology (April 2020)	Rora^{tm1c(EUCOMM)Wtsi}	PMC8097639
Type 2 innate lymphoid cells inhibit the differentiation of osteoclasts and protect from ovariectomy-induced bone loss.	Bone (March 2020)	Rora^{tm1a(EUCOMM)Wtsi}	32240850
A CCL1/CCR8-dependent feed-forward mechanism drives ILC2 functions in type 2-mediated inflammation.	The Journal of experimental medicine (September 2019)	Rora^{tm1a(EUCOMM)Wtsi}	PMC6888976
A stromal cell niche sustains ILC2-mediated type-2 conditioning in adipose tissue.	The Journal of experimental medicine (June 2019)	Rora^{tm1c(EUCOMM)Wtsi}	PMC6719433
Spontaneous atopic dermatitis in mice with a defective skin barrier is independent of ILC2 and mediated by IL-1β.	Allergy (April 2019)	Rora^{tm1c(EUCOMM)Wtsi}	PMC6850072
The Tec kinase ITK is essential for ILC2 survival and epithelial integrity in the intestine.	Nature communications (February 2019)	Rora^{tm1c(EUCOMM)Wtsi}	PMC6377622
MicroRNA-155 Protects Group 2 Innate Lymphoid Cells From Apoptosis to Promote Type-2 Immunity.	Frontiers in immunology (October 2018)	Rora^{tm1c(EUCOMM)Wtsi}	PMC6189280
Tissue-Restricted Adaptive Type 2 Immunity Is Orchestrated by Expression of the Costimulatory Molecule OX40L on Group 2 Innate Lymphoid Cells.	Immunity (June 2018)	Rora^{tm1c(EUCOMM)Wtsi}	PMC6015114
Lack of Type 2 Innate Lymphoid Cells Promotes a Type I-Driven Enhanced Immune Response in Contact Hypersensitivity.	The Journal of investigative dermatology (March 2018)	Rora^{tm1c(EUCOMM)Wtsi}	PMC6117454
Type-2 innate lymphoid cells control the development of atherosclerosis in mice.	Nature communications (June 2017)	Rora^{tm1c(EUCOMM)Wtsi}	PMC5467269
First-Breath-Induced Type 2 Pathways Shape the Lung Immune Environment.	Cell reports (February 2017)	Rora^{tm1c(EUCOMM)Wtsi}	PMC5329122
Programming of Intestinal Epithelial Differentiation by IL-33 Derived from Pericryptal Fibroblasts in Response to Systemic Infection.	Cell reports (May 2016)	Rora^{tm1a(EUCOMM)Wtsi}	27184849
Tbet or Continued RORγt Expression Is Not Required for Th17-Associated Immunopathology.	Journal of immunology (Baltimore, Md. : 1950) (May 2016)	Rora^{tm1c(EUCOMM)Wtsi}	PMC4891569
IL-27 suppresses type 2 immune responses in vivo via direct effects on group 2 innate lymphoid cells.	Mucosal immunology (March 2016)	Rora^{tm1a(EUCOMM)Wtsi}	26982595
Group 2 innate lymphoid cells license dendritic cells to potentiate memory TH2 cell responses.	Nature immunology (November 2015)	Rora^{tm1a(EUCOMM)Wtsi}	PMC4685755
MHCII-mediated dialog between group 2 innate lymphoid cells and CD4(+) T cells potentiates type 2 immunity and promotes parasitic helminth expulsion.	Immunity (July 2014)	Rora^{tm1c(EUCOMM)Wtsi} Rora^{tm1a(EUCOMM)Wtsi}	PMC4148706

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

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Rora MGI:104661

Gene Summary

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Phenotypes

lacZ Expression

Associated Images

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Electrocardiogram (ECG)

X-ray

Adult LacZ

Human diseases caused by Rora mutations

Histopathology

IMPC related publications

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