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Gene: Epg5 MGI:1918673

Gene Summary

Name:

ectopic P-granules 5 autophagy tethering factor

Synonyms:

5430411K18Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased leukocyte cell number	Epg5^em1(IMPC)H	HOM	Early adult	6.23×10^-16
increased circulating amylase level	Epg5^em1(IMPC)H	HOM	Early adult	2.73×10^-05
decreased prepulse inhibition	Epg5^em1(IMPC)H	HOM	Early adult	2.61×10^-14
increased basophil cell number	Epg5^em1(IMPC)H	HOM	Early adult	1.52×10^-06
increased neutrophil cell number	Epg5^em1(IMPC)H	HOM	Early adult	2.76×10^-21
short tibia	Epg5^em1(IMPC)H	HOM	Early adult	3.85×10^-05
decreased circulating glucose level	Epg5^em1(IMPC)H	HOM	Early adult	8.68×10^-05
increased large unstained cell number	Epg5^em1(IMPC)H	HOM	Early adult	2.64×10^-08
increased circulating alkaline phosphatase level	Epg5^em1(IMPC)H	HOM	Early adult	1.17×10^-25
increased lymphocyte cell number	Epg5^em1(IMPC)H	HOM	Early adult	1.66×10^-10
decreased circulating serum albumin level	Epg5^em1(IMPC)H	HOM	Early adult	1.00×10^-08
increased bone mineral density	Epg5^em1(IMPC)H	HOM	Early adult	4.18×10^-05
decreased lymphocyte cell number	Epg5^em1(IMPC)H	HOM	Early adult	1.80×10^-11
decreased startle reflex	Epg5^em1(IMPC)H	HOM	Early adult	1.12×10^-05
increased heart rate	Epg5^em1(IMPC)H	HOM	Early adult	8.40×10^-05
abnormal gait	Epg5^em1(IMPC)H	HOM	Early adult	2.02×10^-11
increased red blood cell distribution width	Epg5^em1(IMPC)H	HOM	Early adult	2.80×10^-37
increased monocyte cell number	Epg5^em1(IMPC)H	HOM	Early adult	1.27×10^-23
increased circulating iron level	Epg5^em1(IMPC)H	HOM	Early adult	7.30×10^-07
increased circulating aspartate transaminase level	Epg5^em1(IMPC)H	HOM	Early adult	0.00
tremors	Epg5^em1(IMPC)H	HOM	Early adult	5.76×10^-09
increased circulating alanine transaminase level	Epg5^em1(IMPC)H	HOM	Early adult	1.25×10^-34
hyperactivity	Epg5^em1(IMPC)H	HOM	Early adult	2.39×10^-18
increased spleen weight	Epg5^em1(IMPC)H	HOM	Early adult	1.41×10^-16

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lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Epg5 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 Epg5 (2 diseases)
Human diseases predicted to be associated with Epg5 (2367 diseases)

The table below shows human diseases associated to Epg5 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Vici Syndrome		Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Micrognathia, C...	OMIM:242840
Vici Syndrome		Abnormality of retinal pigmentation, Short stature, Optic atrophy, Agenesis of corpus callosum, C...	ORPHA:1493

The table below shows human diseases predicted to be associated to Epg5 by phenotypic similarity.

Disease	Matching phenotypes	Source
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Parasomnia, Sleep Bruxism Type	Myoclonus, Bruxism	OMIM:606840
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
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608631
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
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
Parkinson Disease 24, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication	OMIM:619491
Dysplasia Of Head Of Femur, Meyer Type	Waddling gait, Multicentric femoral head ossification, Congenital hip dislocation, Antalgic gait,...	ORPHA:168621
Dystonia 11, Myoclonic	Torticollis, Writer's cramp, Tremor, Myoclonus, Compulsive behaviors	OMIM:159900
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300425
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Spasticity, Bruxism, Aggressive behavior	OMIM:615493
Intellectual Developmental Disorder, Autosomal Recessive 58	Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious behavior, Abnormal r...	OMIM:617270
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Immunodeficiency 27A	Hypoplasia of the femoral head, Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphad...	OMIM:209950
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Spinal Muscular Atrophy, Type Iv	Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ...	OMIM:271150
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Abnormal repetitive mannerisms, Agitation, Involuntary movements, Aggressive behavior	OMIM:617171
Autosomal Recessive Spastic Paraplegia Type 71	Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia	ORPHA:401840
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Inappropriate behavior, Myoclonus, Dystonia, Uppe...	ORPHA:401901
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Tremor, Spastic paraplegia	OMIM:309560
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Spasticity, Bruxism, Aggressive behavior	ORPHA:356996
Spinocerebellar Ataxia 37	Tremor, Frequent falls, Ataxia, Dysphagia	OMIM:615945
Intellectual Developmental Disorder, Autosomal Dominant 69	Attention deficit hyperactivity disorder, Intention tremor	OMIM:617863
Autism	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:209850
Autism, Susceptibility To, 8	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:607373
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Intellectual Developmental Disorder, Autosomal Recessive 6	Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus	OMIM:611092
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concent...	OMIM:616860
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Episodic Kinesigenic Dyskinesia 2	Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia	OMIM:611031
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Familial Infantile Bilateral Striatal Necrosis	Dystonia, Ataxia, Frequent falls, Spastic tetraparesis, Rigidity, Babinski sign, Optic atrophy, S...	ORPHA:225154
Parkinsonism With Spasticity, X-Linked	Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity	OMIM:300911
Brunner Syndrome	Self-injurious behavior, Kinetic tremor, Impulsivity, Aggressive behavior	OMIM:300615
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:607688
Trimethylaminuria	Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia	OMIM:602079
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology, Hand muscle atrophy, Hand muscle weakness, Vocal cord par...	OMIM:607641
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Tachycardia, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi...	ORPHA:324575
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ...	OMIM:614561
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs...	OMIM:226990
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Ataxia, Aggressive behavior, Chorea, Poor coordination, Bruxism, Inappropriate laughter, Dystonia...	OMIM:619150
Sandhoff Disease, Adult Form	Tremor, Dysphagia, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity	ORPHA:309169
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Lymphadenopat...	ORPHA:507
Spinal Muscular Atrophy, Jokela Type	Pes planus, Elevated circulating creatine kinase concentration, Tremor, Calf muscle hypertrophy, ...	OMIM:615048
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro...	OMIM:619868
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Diffuse alveolar hemorrhage,...	OMIM:616050
Tremor, Hereditary Essential, 2	Kinetic tremor, Upper limb postural tremor	OMIM:602134
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Abnormal foot morphology, Decreased patellar reflex, Absent patellar reflexes, Mildly ele...	OMIM:614369
Spastic Paraplegia Type 7	Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Ragged-red muscle fibers, Opt...	ORPHA:99013
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Peripheral axonal neuropathy, Ataxia, Involuntary movements, Centrally nucleated ...	ORPHA:401768
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Dystonia 16	Torticollis, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Dysphagia, Bradykinesia, Lim...	ORPHA:210571
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Tremor Of Intention, Ataxia, And Lipofuscinosis	Ataxia, Intention tremor	OMIM:190200
Episodic Kinesigenic Dyskinesia 3	Choreoathetosis, Torticollis, Involuntary movements, Dystonia	OMIM:620245
Hemophagocytic Lymphohistiocytosis, Familial, 1	Decreased HDL cholesterol concentration, Leukopenia, Hypertonia, Hypoalbuminemia, Hyponatremia, H...	OMIM:267700
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis	OMIM:158580
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Tachycardia, Maternal diabetes, Hyperinsulinemia, Polyphagia, Hypoglycemic seizures...	ORPHA:276580
Dystonia 2, Torsion, Autosomal Recessive	Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia	OMIM:224500
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating fr...	ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Tachycardia, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fa...	ORPHA:276575
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Distal ...	OMIM:604484
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Broad-based gait, Reduced systolic function, Microcytic anemia, Dilated cardiomyopa...	OMIM:618805
Charcot-Marie-Tooth Disease Type 2B1	Decreased motor nerve conduction velocity, Hand muscle atrophy, Peroneal muscle atrophy, Hand mus...	ORPHA:98856
Acute Peripheral Arterial Occlusion	Myocardial infarction, Paralysis, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse...	ORPHA:90064
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson...	ORPHA:275872
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenome...	OMIM:619644
Intellectual Developmental Disorder, Autosomal Recessive 77	Head tremor, Self-biting	OMIM:619988
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa...	ORPHA:158061
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Scapular winging, Low back pain, Centrally nucleated ske...	OMIM:619733
Spinocerebellar Ataxia 40	Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In...	OMIM:616053
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk...	OMIM:254110
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:619398
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Sh...	OMIM:611890
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated...	OMIM:616852
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Oculomotor apraxia, T...	OMIM:208920
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia	OMIM:619651
Dystonia 16	Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si...	OMIM:612067
Atypical Pantothenate Kinase-Associated Neurodegeneration	Violent behavior, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, D...	ORPHA:216873
Nephrotic Syndrome, Type 7	Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:615008
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia	OMIM:617018
Spinocerebellar Ataxia, X-Linked 5	Ataxia, Action tremor	OMIM:300703
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,...	OMIM:300908
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Ataxia, Spastic dysarthria, Steppage gait, Hypoalbuminemia, Hypercholesterolemia, Distal lower li...	ORPHA:94124
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Tremor, Spasticity, Babinski sign, Ataxia	OMIM:611105
Spinocerebellar Ataxia Type 31	Tremor, Spasticity, Gait ataxia	ORPHA:217012
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, Truncal a...	OMIM:608636
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Poor coordination, Stereotypical body rocking, A...	OMIM:309548
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hematochezia, ...	ORPHA:2070
Juvenile Primary Lateral Sclerosis	Skeletal muscle atrophy, Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Abnor...	ORPHA:247604
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired temperature sen...	DECIPHER:29
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenom...	OMIM:615631
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Distal lower limb amyotrophy, Foot dorsiflexor weakness, Failure to thrive in infancy, Decreased ...	ORPHA:90103
Spinocerebellar Ataxia Type 20	Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga...	ORPHA:101110
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ...	ORPHA:398063
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f...	ORPHA:64753
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing, Lung abscess, Decreased circulating beta-2-microglobulin l...	OMIM:241600
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, H...	OMIM:617760
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating fer...	OMIM:603553
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Peripheral axonal degeneration, Cerebellar atrophy, Decreased number of peripheral myelinated ner...	OMIM:302800
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Clumsiness, Stereotypical body rocking, Agitatio...	ORPHA:100973
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypertension, Hypoalbuminemia, Ascites, Anemia	OMIM:603278
Migraine, Familial Hemiplegic, 1	Ataxia, Tremor, Hemiparesis, Agitation, Hemiplegia	OMIM:141500
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Wolcott-Rallison Syndrome	Hyponatremia, Metaphyseal dysplasia, Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, ...	ORPHA:1667
Mueller-Weiss Syndrome	Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone...	ORPHA:566943
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, Short stature, Hyperlordosis, Fatty replacement of skeletal muscle...	ORPHA:52430
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Marinesco-Sjogren Syndrome	Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Short stature, Centrally nucleated skeletal ...	OMIM:248800
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Skeletal muscle atrophy, Peripheral axonal neuropathy, Axonal degeneration, Diaphragmatic paralys...	OMIM:620011
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity	OMIM:616871
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia, Reduc...	OMIM:612126
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Congenital Myopathy 3 With Rigid Spine	Short stature, Facial palsy, Centrally nucleated skeletal muscle fibers, Spinal rigidity, Flexion...	OMIM:602771
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Abnormal lower motor neuron morphology, Spinal muscular atrophy, Hyperlordosis, Scapuloperoneal a...	OMIM:611067
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I...	OMIM:117000
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Impaired temperature sensation, Hand muscle weakness, Quadriceps muscle weakness, Flexion contrac...	ORPHA:99947
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Impaired proprioception, Abn...	ORPHA:95434
Amyotrophic Lateral Sclerosis 2, Juvenile	Hand muscle atrophy, Skeletal muscle atrophy, Clonus, Opisthotonus, Spastic dysarthria, Hypertoni...	OMIM:205100
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Hype...	ORPHA:64743
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor	OMIM:611808
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, ...	OMIM:618484
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Aicardi-Goutieres Syndrome 2	Spastic paraplegia, Lymphocytosis, Dystonia	OMIM:610181
Myasthenic Syndrome, Congenital, 14	Scapular winging, Centrally nucleated skeletal muscle fibers, Hyperlordosis, Limb-girdle muscle w...	OMIM:616228
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Spinal rigidit...	OMIM:608423
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Peripheral axonal degeneration, Small for gestational age, Spinal muscular atrophy, Camptodactyly...	OMIM:604320
Schnitzler Syndrome	Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenop...	ORPHA:37748
Dystonia 24	Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia	OMIM:615034
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Decreased n...	OMIM:618138
Myopathy, Centronuclear, 2	Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Hyperlordosis, Kyphos...	OMIM:255200
Spastic Paraparesis And Deafness	Tremor, Spastic paraparesis	OMIM:312910
Urocanase Deficiency	Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Spinal Muscular Atrophy, Segmental	Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy	OMIM:183020
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Arachnodactyly, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Hep...	OMIM:619013
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, High-output congestive heart failur...	ORPHA:231226
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti...	OMIM:619725
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Proximal muscle weakness...	OMIM:620068
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Ataxia, Steppage gait, Hypoalbuminemia, Hypercholesterolemia, Pes cavus	OMIM:607250
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle...	OMIM:620310
Relapsing Fever	Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thro...	ORPHA:91547
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia...	OMIM:612716
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope...	ORPHA:210110
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasti...	OMIM:615924
Immunodeficiency 15B	Monocytosis, Reduced natural killer cell count	OMIM:615592
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased conn...	OMIM:255320
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Flexion contracture of finger, Ataxia, Truncal titubatio...	ORPHA:88628
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin...	OMIM:613752
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Congenital Myopathy 4A, Autosomal Dominant	Lumbar hyperlordosis, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle f...	OMIM:255310
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate p...	OMIM:224120
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Dystonia 23	Axial dystonia, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dystonia	OMIM:614860
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai...	OMIM:607459
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Mitochondrial Myopathy With Diabetes	Ataxia, Facial palsy, Ragged-red muscle fibers, Decreased activity of mitochondrial complex IV, L...	OMIM:500002
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia	OMIM:264070
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300495
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Short stature, Facial palsy, Decreased activity of mitochondrial complex IV, Ragged-red muscle fi...	OMIM:616209
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P...	OMIM:613954
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetitive mannerisms	OMIM:617862
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ...	OMIM:617087
Dystonia 12	Torticollis, Parkinsonism, Tremor, Dysphagia, Bradykinesia, Dystonia	OMIM:128235
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Back pain, Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of ske...	OMIM:618129
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism	OMIM:260540
Diarrhea 13	Hepatic steatosis, Recurrent hypoglycemia, Hypoalbuminemia	OMIM:620357
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Rh Deficiency Syndrome	Hemolytic anemia, Tachycardia, Reticulocytosis, Macrocytic anemia, Anisocytosis, Jaundice, Sphero...	ORPHA:71275
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Congenital Enterovirus Infection	Abnormal macrophage morphology, Fetal ascites, Myocarditis, Leukocytosis, Thrombocytopenia, Hepat...	ORPHA:292
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene...	ORPHA:53
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park...	OMIM:128230
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:600116
Developmental And Epileptic Encephalopathy 97	Tremor, Stereotypical hand wringing	OMIM:619561
Charcot-Marie-Tooth Disease, Type 4C	Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au...	OMIM:601596
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Spinal rigid...	ORPHA:486815
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Foot dorsiflexor weakn...	OMIM:614436
King-Denborough Syndrome	Lumbar hyperlordosis, Short stature, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, ...	OMIM:619542
Parkinson Disease 17	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia	OMIM:614203
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Increased bone mineral density, Osteomyelitis, Femur fracture, Pancytopenia, Cranio...	OMIM:259700
Inherited Creutzfeldt-Jakob Disease	Tremor, Chorea, Abnormal pyramidal sign, Gait ataxia, Spastic dysarthria, Progressive extrapyrami...	ORPHA:282166
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa...	OMIM:611705
Lower Motor Neuron Syndrome With Late-Adult Onset	Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Gait disturbance, ...	ORPHA:276435
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Lumbar hyperlordosis, Centrally nucleated skeletal muscle fibers, Spinal rigidity, Limb-girdle mu...	ORPHA:86812
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Hand muscle weakness, Decr...	OMIM:606070
Intellectual Developmental Disorder With Autism And Speech Delay	Abnormal repetitive mannerisms	OMIM:606053
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Joint laxity, Hepatomegaly, Hyperactivity, Ataxia, Elevated c...	OMIM:615673
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Inability to walk, Metaphyseal widening, Flexion contracture, Clubbing, Congestive ...	OMIM:617303
Spastic Paraplegia 18B, Autosomal Recessive	Skeletal muscle atrophy, Lower limb spasticity, Kyphosis, Babinski sign, Spastic paraplegia, Ankl...	OMIM:611225
Autosomal Dominant Severe Congenital Neutropenia	Osteopenia, Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, ...	ORPHA:486
Reni Syndrome	Hypertriglyceridemia, Ataxia, Hypoglycemia, Hypoalbuminemia, Lymphopenia	OMIM:617575
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Frequent falls, Hemiballismus	ORPHA:494526
Neuropathy, Hereditary Motor And Sensory, Russe Type	Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Claw hand deformity, Par...	OMIM:605285
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Spinal rigidity, Muscular dy...	OMIM:617066
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Myeloid leukemia, Hepatomegaly, Neutrophilia, Leukocytosis, Osteoporosis, Incr...	ORPHA:98849
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Pulmonary embolism, Clubbing, Iron deficiency anemia, Clubbing of fingers, Hypoalbu...	OMIM:226300
Myopathy, Sarcoplasmic Body	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus...	OMIM:620286
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy...	OMIM:619178
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Hypertension, Second degree...	OMIM:617021
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased serum iron, Increased mean corpu...	ORPHA:98870
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne...	OMIM:615424
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Congestive heart failure, Le...	ORPHA:247353
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Involuntary movements, Self-injurious behavior, Dystonia, Spasticity, Abnormal repetitive mannerisms	OMIM:617820
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Supraventricular tachycardia, Cardiomyopathy, Elevated circulating creatine kinase concentration,...	OMIM:255100
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Spastic tetraparesis, Aggressive behavior, Tremor, Abnormal repetitive mannerisms	OMIM:619470
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Decreased testicular s...	OMIM:604168
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Tremor, Flexion contracture, Hepatosplenomegaly, Clumsine...	ORPHA:2590
Boucher-Neuhauser Syndrome	Cerebellar atrophy, Chorioretinal dystrophy, Ataxia, Retinal dystrophy, Gait ataxia, Spinocerebel...	OMIM:215470
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal...	ORPHA:1145
Aicardi-Goutieres Syndrome 9	Hypertonia, Hypoalbuminemia, Hepatic fibrosis, Hepatic steatosis, Self-mutilation, Hemolytic anem...	OMIM:619487
Immunodeficiency 69	Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl...	OMIM:618963
Charcot-Marie-Tooth Disease, Type 4A	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Decreased...	OMIM:214400
Amyotrophic Lateral Sclerosis 4, Juvenile	Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler...	OMIM:602433
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P...	OMIM:105550
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Postural tremor, Unsteady gait, Gait ataxia, Normochromic anemia, Hypoalbuminemia, Myoclonus, Dys...	OMIM:254900
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Reactive hypoglycemia, Tremor, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, ...	ORPHA:276608
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Spinocerebellar Ataxia, X-Linked 1	Ataxia, Action tremor, Abnormality of extrapyramidal motor function, Dysphagia, Intention tremor	OMIM:302500
Wilson Disease	Decreased circulating ceruloplasmin concentration, Hepatocellular carcinoma, Tremor, Osteoarthrit...	OMIM:277900
Primary Lateral Sclerosis, Juvenile	Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu...	OMIM:606353
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Elevated transferrin saturation, Cardiomyopathy, Ar...	OMIM:604250
Merrf	Ataxia, Short stature, Ragged-red muscle fibers, Optic atrophy, Myopathy, Multiple lipomas	ORPHA:551
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in upper limbs, Increased mitochondrial number, Short stature, Ragged-re...	ORPHA:457050
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Impaired pain sensation, Impaired tem...	OMIM:619574
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Increased variability in muscle fibe...	OMIM:619473
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Aggressive behavior, Rigidity, Babinski sign, Inappropriate behavior, Disinhibition...	OMIM:600795
Mitochondrial Dna Depletion Syndrome 18	Hand muscle atrophy, Clonus, Microcytic anemia, Axonal degeneration, Distal amyotrophy, Tongue fa...	OMIM:618811
Coproporphyria, Hereditary	Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Hypertension, Respiratory paralysis	OMIM:121300
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc...	OMIM:607317
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Fasciculations	OMIM:182980
Lopes-Maciel-Rodan Syndrome	Tremor, Abnormal pyramidal sign, Bruxism, Dysphagia, Bradykinesia, Ankle clonus, Hypertonia, Agit...	OMIM:617435
Analbuminemia	Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra...	OMIM:616000
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Craniosynostosis, Cardiomegaly	ORPHA:88643
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Hypersplenism, Thrombocytopenia, Splenomegaly, Myoclonus, Hypocholester...	OMIM:610539
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Abnormal lymphatic vessel morphology, Reduced proportion of CD4+ effector me...	ORPHA:90362
Aceruloplasminemia	Torticollis, Diabetes mellitus, Ataxia, Decreased serum iron, Increased circulating ferritin conc...	OMIM:604290
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce...	OMIM:606069
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Lumbar hyperlordosis, Short stature, Distal amyotrophy, Type 1 muscle fiber pred...	OMIM:619042
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Spastic Paralysis, Infantile-Onset Ascending	Abnormal lower motor neuron morphology, Achilles tendon contracture, Babinski sign, Spastic parap...	OMIM:607225
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap...	OMIM:608358
Spinocerebellar Ataxia Type 38	Tremor, Gait ataxia	ORPHA:423296
Alg6-Cdg	Ataxia, Jaundice, Decreased LDL cholesterol concentration, Shortening of all distal phalanges of ...	ORPHA:79320
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Limb u...	ORPHA:2204
Primary Lateral Sclerosis, Adult, 1	Spastic tetraparesis, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, ...	OMIM:611637
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder	OMIM:618709
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Decreased...	OMIM:607706
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Clonus, Micrognathia, Hypertonia, Hypocalcemia, Hepatomegaly, Incre...	OMIM:259720
Hyperprolinemia, Type I	Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior	OMIM:239500
Epilepsy, Progressive Myoclonic 7	Tremor, Ataxia, Myoclonus	OMIM:616187
Snakebite Envenomation	Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Paralysis, Neuromuscular dysphagia, ...	ORPHA:449285
Nemaline Myopathy 2	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co...	OMIM:256030
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia	OMIM:605909
X-Linked Non Progressive Cerebellar Ataxia	Babinski sign, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, Truncal ataxia, ...	ORPHA:314978
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Cryptorchidism,...	OMIM:618823
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia	OMIM:620270
Neuroleptic Malignant Syndrome	Elevated circulating creatine kinase concentration, Pulmonary embolism, Tremor, Chorea, Hypocalce...	ORPHA:94093
Congenital Myopathy 10A, Severe Variant	Facial palsy, Abnormal motor nerve conduction velocity, Camptodactyly of finger, Diaphragmatic pa...	OMIM:614399
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join...	ORPHA:93405
Myopathy, Distal, Tateyama Type	Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ...	OMIM:614321
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni...	ORPHA:540
Congenital Myopathy 18	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Scoliosis, Incr...	OMIM:620246
Machado-Joseph Disease Type 3	Skeletal muscle atrophy, Substantia nigra gliosis, Vocal cord paralysis, Abnormal pyramidal sign,...	ORPHA:276244
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Thoracic scoliosis, Muscle fiber hyaline bodies, Short stature, Centrally nucleated skeletal musc...	OMIM:255160
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Thrombocytopenia, Elevated circulating creatinine concentration, Cholestasis, Hypoa...	OMIM:608104
Optic Atrophy 3, Autosomal Dominant	Tremor, Abnormality of extrapyramidal motor function	OMIM:165300
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Muscular Dystrophy, Limb-Girdle, Type 1H	Increased connective tissue, Centrally nucleated skeletal muscle fibers, Calf muscle hypertrophy,...	OMIM:613530
Hyperlysinemia, Type I	Hyperactivity, Hyperlysinemia, Anemia	OMIM:238700
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu...	OMIM:601846
Mitochondrial Complex I Deficiency, Nuclear Type 15	Cerebellar atrophy, Kyphosis, Flexion contracture, Optic atrophy, Spastic tetraplegia, Myopathy, ...	OMIM:618237
Spinocerebellar Ataxia 12	Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ...	OMIM:604326
Immunodeficiency 24	Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ...	OMIM:615897
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Tetanus	Tachycardia, Stiff neck, Elevated circulating creatine kinase concentration, Tremor, Rigidity, Op...	ORPHA:3299
Bacterial Toxic-Shock Syndrome	Shock, Tachycardia, Osteomyelitis, Elevated circulating creatine kinase concentration, Abscess, A...	ORPHA:36234
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Ataxia, Failure to thrive in infancy, Short stature, Decreased activity of mitochondrial complex ...	OMIM:619065
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elbow contracture, Ankle contracture, Kyphoscoliosis, Spinal rigidity, Limb-gird...	OMIM:620386
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Short neck, Spinal rigidity, Kyphosis, Hyperlordosis, Flexion contracture, Scoliosis, Increased v...	OMIM:300718
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Fatiguable weaknes...	ORPHA:90117
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine concentration...	OMIM:620366
Rhabdomyolysis, Susceptibility To, 1	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,...	OMIM:620235
Hyperphenylalaninemia, Bh4-Deficient, C	Tremor, Dysphagia, Choreoathetosis, Hypertonia, Myoclonus, Dystonia	OMIM:261630
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H...	ORPHA:178464
Intellectual Developmental Disorder, Autosomal Recessive 48	Tremor, Self-mutilation, Inappropriate laughter, Aggressive behavior	OMIM:616269
Isolated Osteopoikilosis	Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ...	ORPHA:166119
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Tachycardia, Tremor, Abnormal circulating fatty-acid concentration, Hyperinsulinemi...	ORPHA:263455
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ...	ORPHA:2593
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Torticollis, Parkinsonism, Dysphagia, Gait ataxia, Bradykinesia, Limb dystonia, C...	ORPHA:71517
Hemochromatosis, Type 2B	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Cong...	OMIM:613313
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Gait ataxia, M...	OMIM:258450
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental...	OMIM:606482
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,...	ORPHA:231222
Sporadic Creutzfeldt-Jakob Disease	Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Gliosis, Myoclonu...	ORPHA:204
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Dysphagia, Hypertonia, Hyperkinetic mo...	OMIM:619738
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Hypertonia, Abnormal repetitive mannerisms, Spastic tetraplegia	OMIM:615282
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle...	OMIM:618655
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Restless legs, Rigidity, Bradykinesia, Parkinsonism with favorable response to do...	OMIM:616710
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Thoracic scoliosis, Centrally nucleated skeletal muscle fibers...	OMIM:620351
Bethlem Myopathy 2	Scapular winging, Kyphosis, Flexion contracture, Myopathy, Atrophic scars, Scoliosis, Increased v...	OMIM:616471
Abetalipoproteinemia	Osteopenia, Decreased HDL cholesterol concentration, Cardiomegaly, Dysmetria, Gait ataxia, Steppa...	ORPHA:14
Baker-Gordon Syndrome	Ataxia, Involuntary movements, Choreoathetosis, Self-injurious behavior, Hyperkinetic movements, ...	OMIM:618218
Spinocerebellar Ataxia Type 12	Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor...	ORPHA:98762
Dystonia 7, Torsion	Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu...	OMIM:602124
Primary Membranoproliferative Glomerulonephritis	Hypertension, Hypoalbuminemia, Myocardial infarction	ORPHA:54370
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Babinski sign, Cerebral atrophy, Axonal loss, Lateral ventricle dilatation, Glio...	OMIM:221770
Myopathy, Myofibrillar, 8	Scapular winging, Frequent falls, Centrally nucleated skeletal muscle fibers, Spinal rigidity, Ac...	OMIM:617258
Myopathy, Centronuclear, 4	Frequent falls, Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers	OMIM:614807
Severe X-Linked Mitochondrial Encephalomyopathy	Skeletal muscle atrophy, Involuntary movements, Increased connective tissue, Tongue fasciculation...	ORPHA:238329
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia, Hamme...	OMIM:618387
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Babinski sign, Disinhibition, Dysphagia, Spasticity, Abnormal repetitive mannerisms	OMIM:612069
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Dysphagia, Focal ...	ORPHA:240103
Childhood-Onset Nemaline Myopathy	Scapular winging, Spinal rigidity, Flexion contracture, Increased muscle lipid content, Generaliz...	ORPHA:171439
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, J...	OMIM:603552
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Tularemia	Brain abscess, Tachycardia, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal...	ORPHA:3392
Corticobasal Syndrome	Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr...	ORPHA:454887
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Myoclonus	OMIM:615127
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function...	ORPHA:79262
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Axonal degeneration, Distal sensory impairment, Upper limb muscle weakness, Scoliosis, Lower limb...	OMIM:616155
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomegaly, Microvesicular hepat...	OMIM:618278
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Hypermanganesemia, Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gait...	ORPHA:521406
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Hypoglycemia, Portal hypertension, Elevated circulating alpha-fetoprotein concentra...	OMIM:251880
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Glucose intolerance, Leukopenia, Hypoalbuminemia, Fasti...	ORPHA:2298
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis, Hepatomegaly	OMIM:606445
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism...	ORPHA:314632
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity	OMIM:615768
Ataxia-Oculomotor Apraxia 4	Ataxia, Elevated circulating alpha-fetoprotein concentration, Abnormal pyramidal sign, Tetraplegi...	OMIM:616267
N-Acetylaspartate Deficiency	Abnormal repetitive mannerisms, Self-mutilation, Truncal ataxia	OMIM:614063
Slc35A2-Cdg	Osteopenia, Increased circulating thyroglobulin level, Camptodactyly of finger, Craniosynostosis,...	ORPHA:356961
Myopathy, X-Linked, With Postural Muscle Atrophy	Back pain, Skeletal muscle atrophy, Scapular winging, Short neck, Spinal rigidity, Achilles tendo...	OMIM:300696
Spinocerebellar Ataxia 18	Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Epilepsy, Progressive Myoclonic, 6	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking...	OMIM:614018
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	Self-injurious behavior, Chorea, Stereotypical hand wringing, Dystonia	OMIM:618760
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport...	OMIM:212050
Spinocerebellar Ataxia 48	Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dysphagia, Dystonia	OMIM:618093
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Dy...	ORPHA:251282
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Dysphagia, Choreoa...	OMIM:606159
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Lung abscess, Congestive heart failure, Leukocytosis, Hypoalbuminemia, Constrictiv...	ORPHA:67
Galloway-Mowat Syndrome 6	Clinodactyly of the 5th finger, Abnormal repetitive mannerisms, Hypoalbuminemia, Paroxysmal burst...	OMIM:618347
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc...	OMIM:612999
Immunodeficiency 8 With Lymphoproliferation	Lymphopenia, Attention deficit hyperactivity disorder	OMIM:615401
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Prolonged QT interval, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elevat...	OMIM:613327
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatic stea...	ORPHA:247585
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Dystonia, Spasticity, Abnorma...	OMIM:618917
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Myoclonus, Oppositional defiant di...	OMIM:619028
Hypermanganesemia With Dystonia 1	Hepatomegaly, Hypermanganesemia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor co...	OMIM:613280
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn...	ORPHA:1802
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ataxia, Elevated circulating creatine kinase concentration, Cardiac arrest, Hypoglycemia, Elevate...	OMIM:616878
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Increased total...	ORPHA:90037
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py...	OMIM:602099
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Increased bone mineral density, Hepatomegaly, Recurrent fractures, Splenomegaly,...	OMIM:611490
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Anorexia, Leukopenia, Hypoalbuminemia, Abnorm...	ORPHA:99826
X-Linked Sideroblastic Anemia	Splenomegaly, Glucose intolerance, Anemia, Abnormality of iron homeostasis	ORPHA:75563
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Pedal ed...	ORPHA:75565
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Rocker bottom foot, Anisocytosis, Micrognathia, Flexion contracture, Hypertonia, Ca...	OMIM:604273
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy...	OMIM:231095
Ménétrier Disease	Gastrointestinal hemorrhage, Anorexia, Hypochromic microcytic anemia, Hypoalbuminemia, Hypoprotei...	ORPHA:2494
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng...	OMIM:617284
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenome...	OMIM:612840
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Hype...	ORPHA:169186
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Short stature, Centrally nucleated skeletal muscle fibers, Mitochondrial hypertrophy, Scoliosis, ...	OMIM:619518
Aceruloplasminemia	Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Hepatic fibrosis,...	ORPHA:48818
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Speech apraxia, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention def...	OMIM:613670
Fibronectin Glomerulopathy	Hypertension, Cerebral hemorrhage, Hypoalbuminemia, Pedal edema	ORPHA:84090
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Tremor, Self-injurious behavior, Bruxism, Spasticity, Abnormal repetitive manneris...	OMIM:618718
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, A...	ORPHA:275864
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Dystonia, Ataxia, Short stature, Flexion contracture, Optic atrophy, Ragged-red muscle fibers, Ba...	OMIM:252011
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Hsd10 Mitochondrial Disease	Optic atrophy, Abnormal mitochondrial morphology, Spastic tetraplegia, Choreoathetosis, Spasticit...	OMIM:300438
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus	OMIM:616421
Developmental And Epileptic Encephalopathy 58	Abnormal repetitive mannerisms, Spastic diplegia	OMIM:617830
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Cerebral palsy, Hypertonia, Hypoalbuminemia, Prolonged neonatal jaundice, Hyper...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Cerebral palsy, Hypertonia, Hypoalbuminemia, Prolonged neonatal jaundice, Hyper...	ORPHA:529799
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ...	OMIM:614172
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca...	OMIM:608099
Gaucher Disease Type 1	Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Anorexia, Hypersplenism, ...	ORPHA:77259
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Spinal rigidity, Flexion contracture, Scoliosis, Increased variability in muscle fiber diameter, ...	OMIM:300717
Stiff-Person Syndrome	Exaggerated startle response, Diabetes mellitus, Tachycardia, Rigidity, Opisthotonus, Hypertensio...	OMIM:184850
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo...	OMIM:600649
Epilepsy, Familial Adult Myoclonic, 5	Tremor, Myoclonus	OMIM:615400
Lethal Congenital Contracture Syndrome 7	Cerebellar atrophy, Skeletal muscle atrophy, Paralysis, Cerebral atrophy, Knee flexion contractur...	OMIM:616286
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:615490
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Arrhythmia, Ataxia, Neutropenia	OMIM:616949
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Spastic Paraplegia 9A, Autosomal Dominant	Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Short stature, Hiatus hernia...	OMIM:601162
Charcot-Marie-Tooth Disease Type 4A	Impaired distal proprioception, Hand muscle weakness, Quadriceps muscle weakness, Motor conductio...	ORPHA:99948
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatomegaly, Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, Flexion cont...	ORPHA:367
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Increased connective tissu...	OMIM:601954
Osteosclerotic Metaphyseal Dysplasia	Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclerosis	OMIM:615198
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiac arrest, V...	OMIM:212138
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati...	OMIM:615184
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Tremor, Splenomegaly, Rigidity, Dystonia, Loss of ambulation, Thr...	OMIM:615010
Hemochromatosis, Type 2A	Hepatomegaly, Increased circulating ferritin concentration, Congestive heart failure, Dilated car...	OMIM:602390
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop...	OMIM:612541
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc...	ORPHA:266
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Frequent falls, Abnormal muscle fiber morphology, Short neck, Kyphosis, Spinal rigid...	ORPHA:75840
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Hepatomegaly, Increased circulating NT-proBNP concentr...	ORPHA:85443
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Peripheral axonal degeneration, Skeletal muscle atrophy, Impaired distal proprioception, Hand mus...	ORPHA:101097
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Somatic sensory dysfunction, Short stature, Thick hair, Tremor, Increased vari...	ORPHA:502423
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, F...	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, F...	OMIM:616437
Familial Cold Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Lymphadenopath...	OMIM:611762
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Dystonia, Anorexia, Thrombocytopenia, Splenomegaly, Hyperammonemia, Choreoathetosis...	ORPHA:79312
Inclusion Body Myositis	Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red...	ORPHA:611
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, S...	OMIM:617072
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Hepatomegaly, Pericarditis, Ataxia, Tremor, Flexion contracture, Dysmetria, Cardiomyo...	OMIM:212065
Amyotrophy, Hereditary Neuralgic	Peripheral axonal degeneration, Skeletal muscle atrophy, Short stature, Axonal degeneration, Brac...	OMIM:162100
Flynn-Aird Syndrome	Increased bone mineral density, Ataxia, Joint stiffness, Osteoporosis, Increased bone density wit...	OMIM:136300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers	OMIM:618992
Majeed Syndrome	Hepatomegaly, Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Splen...	ORPHA:77297
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Scoliosis, Increased ...	OMIM:613204
X-Linked Centronuclear Myopathy	Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of...	ORPHA:596
Spinocerebellar Ataxia 19	Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Dysp...	OMIM:607346
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Intellectual Developmental Disorder, Autosomal Recessive 14	Intention tremor	OMIM:614020
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Back pain, Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy...	OMIM:167320
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Impaired vibratory sensation, Somatic sensory dysfunction, Lower limb muscle weakness, Ragged-red...	OMIM:616924
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Splenomegaly, Neutropeni...	ORPHA:37042
Spinocerebellar Ataxia Type 37	Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria	ORPHA:363710
Myopathy, Mitochondrial, And Ataxia	Ataxia, Short stature, Thick hair, Tremor, Limb ataxia, Distal sensory impairment, Dysmetria, Pig...	OMIM:617675
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ...	OMIM:618848
Dna2-Related Mitochondrial Dna Deletion Syndrome	Multiple joint contractures, Decreased mitochondrial number, Hyperlordosis, Limb-girdle muscle we...	ORPHA:352470
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T...	OMIM:616313
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad...	OMIM:213600
Autosomal Recessive Progressive External Ophthalmoplegia	Cerebellar atrophy, Scapular winging, Ataxia, Facial palsy, Abnormal retinal morphology, Hand mus...	ORPHA:254886
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ataxia, Acute rhabdomyolysis, Camptodactyly of finger, Short stature, Kyphosis, Abnormal pyramida...	ORPHA:48431
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ...	ORPHA:848
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Skeletal muscle atrophy, Peripheral axonal neuropathy, Paralysis, Distal sensory impairment, Lowe...	OMIM:613710
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Peripartum Cardiomyopathy	Ventricular tachycardia, Pedal edema, Left bundle branch block, Abnormal T-wave, Dilated cardiomy...	ORPHA:563
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count	OMIM:618394
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Impaired vibratory sensation, Distal lower limb amyotrophy, Neurogenic bladder, Thenar muscle atr...	OMIM:500013
Benign Samaritan Congenital Myopathy	Internally nucleated skeletal muscle fibers, Fasciculations, Centrally nucleated skeletal muscle ...	ORPHA:324581
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My...	OMIM:612736
Cinca Syndrome	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Patellar overg...	OMIM:607115
Lethal Congenital Contracture Syndrome 5	Small for gestational age, Centrally nucleated skeletal muscle fibers, Decreased nerve conduction...	OMIM:615368
Sepsis In Premature Infants	Hepatomegaly, Tachycardia, Elevated circulating C-reactive protein concentration, Thrombocytopeni...	ORPHA:90051
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Head titubation, Increased circulating ferritin concentration, Vestibular areflexia, Spastic tetr...	ORPHA:3240
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density, Diabetes mellitus	OMIM:602475
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Elevated circulating creatine kinase concentration, Rigidity, Hyperkalemia, Hyperpho...	OMIM:145600
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Paralysis, Athetosis, Axonal loss, Gliosis, Dystonia	OMIM:300857
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Short stature, Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Decre...	OMIM:300580
Cockayne Syndrome Type 3	Optic disc pallor, Peripheral axonal neuropathy, Retinal atrophy, Retinal dystrophy, Skeletal mus...	ORPHA:90324
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait	OMIM:600363
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Lower limb spasticity, Lumbar hyperlordosis, Retinal dystrophy, Ataxia, Short stature, Kyphosis, ...	OMIM:616756
Autoimmune Hypoparathyroidism	Prolonged QT interval, Increased bone mineral density, Ventricular arrhythmia, Abnormal left vent...	ORPHA:36913
Spinocerebellar Ataxia Type 14	Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus	ORPHA:98763
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Decreased motor nerve conduction velocity, Axial dystonia, Failure to thrive in infancy, Short ne...	OMIM:619026
Stxbp1-Related Encephalopathy	Hyperactivity, Ataxia, Tremor, Spastic tetraplegia, Dystonia, Spasticity	ORPHA:599373
Myoclonus, Intractable, Neonatal	Optic disc pallor, Chorea, Athetosis, Myoclonus, Increased variability in muscle fiber diameter	OMIM:617235
Sclerosteosis	Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndacty...	ORPHA:3152
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Pigment gallstones, Microcytic anemia, Abnormal...	ORPHA:232
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tachycardia, Tricuspid regurgitation, Joint stiffness, Inability to walk, Congestive heart failur...	ORPHA:505248
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology, Motor conduction block	DECIPHER:31
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Pontocerebellar Hypoplasia, Type 1A	Ataxia, Spinal muscular atrophy, Limb ataxia, Hand tremor, Degeneration of anterior horn cells, L...	OMIM:607596
Cerebrotendinous Xanthomatosis	Axonal degeneration, Abnormal pyramidal sign, Gliosis, Thoracic kyphosis, Mitochondrial respirato...	ORPHA:909
Hereditary Coproporphyria	Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Hepatocellular carcinoma...	ORPHA:79273
Intellectual Developmental Disorder, X-Linked 104	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Spasticity	OMIM:300983
Buschke-Ollendorff Syndrome	Osteopoikilosis, Flexion contracture, Joint stiffness, Lower limb asymmetry	OMIM:166700
Alg1-Cdg	Cardiomyopathy, Limitation of joint mobility, Hypoalbuminemia	ORPHA:79327
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Hypoglycemia, Unsteady gait, Hypertonia, Myoclonus, Anemia	OMIM:610090
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Abnormal central motor function, Hypouricemia, Ataxia, Cerebral pals...	ORPHA:760
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis...	ORPHA:79319
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, S...	OMIM:619566
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti...	OMIM:608768
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:615234
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hepatomegaly, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Depletio...	OMIM:618528
High Altitude Pulmonary Edema	Leukocytosis, Tachycardia, Anorexia	ORPHA:330012
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ...	ORPHA:399058
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Peripheral axonal neuropathy, Large for gestational age,...	ORPHA:169189
Ataxia-Pancytopenia Syndrome	Pancytopenia, Ataxia, Thrombocytopenia, Unsteady gait, Babinski sign, Dysmetria, Acute myelomonoc...	OMIM:159550
Monomelic Amyotrophy	Tremor, Fasciculations	ORPHA:65684
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at...	ORPHA:98905
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,...	OMIM:606703
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Clonus, Chorea, Upper-limb joint contracture, Opisthotonus, Hypertonia, ...	ORPHA:300605
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt...	OMIM:616959
Hypermanganesemia With Dystonia 2	Elevated circulating creatine kinase concentration, Tremor, Scissor gait, Opisthotonus, Limb dyst...	OMIM:617013
Multiminicore Myopathy	Proximal muscle weakness in upper limbs, Short stature, Abnormal muscle fiber morphology, Spinal ...	ORPHA:598
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Myopathy, Increased variability in mu...	OMIM:125250
Adrenomyeloneuropathy	Peripheral axonal degeneration, Back pain, Frontal balding, Atrophy/Degeneration involving the co...	ORPHA:139399
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormality of the liver, Hypertonia, Polycythemia, Hepatomegaly, Abnormal blood inorganic cation...	ORPHA:309854
Glutathione Synthetase Deficiency	Hemolytic anemia, Ataxia, Spastic tetraparesis, Neutropenia, Intention tremor	OMIM:266130
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Absent muscle fiber merosin, Facial palsy, Hyperlordosis, Increased connective tissue, ...	ORPHA:258
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hepatomegaly, Tachycardia, Elevated circulating creatine kinase concentrat...	ORPHA:26793
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Elevated circulating creatine kinase concentration, Tremor, Dysphagia, Tongue fasciculations, Dif...	OMIM:159950
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Autoimmune hemolytic anemia, Ataxia, Hypouricemia, Increased circulating gua...	OMIM:613179
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia, Ventricular arrhythmia	OMIM:141000
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dysphagia, Increased circulating very long-chai...	OMIM:617916
Myopathy, Centronuclear, 5	Hip contracture, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers	OMIM:615959
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ...	OMIM:619747
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Dystonia, Thrombocytopenia, Chorea, Hemiplegia/hemiparesis, Hyperammonemia, Choreoa...	ORPHA:289916
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Cerebellar atrophy, Scapular winging, Generalized dystoni...	OMIM:614298
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Diabetes mellitus, ST segment elevation, Ventricular tachycardia, Right bundle branch block, Card...	ORPHA:263297
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic paraparesis	ORPHA:329284
Neonatal Hemochromatosis	Hypoglycemia, Micrognathia, Increased circulating ferritin concentration, Congenital hepatic fibr...	ORPHA:446
Lethal Congenital Contracture Syndrome 8	Flexion contracture, Vocal cord paralysis, Distal sensory impairment, Facial diplegia, Distal amy...	OMIM:616287
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Ataxia, Dysmetria	OMIM:617917
Lymphangiectasia, Intestinal	Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia, Pedal edema	OMIM:152800
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Myasthenic Syndrome, Congenital, 25, Presynaptic	Spinal rigidity, Kyphosis, Decreased compound muscle action potential amplitude, Flexion contract...	OMIM:618323
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased serum iron, Flexion contracture, Dilated cardiomyopathy, Dysphagia, Anemia, Decreased s...	ORPHA:89842
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Sudden cardiac death, Palmoplantar keratoderma, Syncope, Palpit...	OMIM:610476
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Talipes, Elevated circulating creatine kinase concentration, Joint stiffness, Trem...	ORPHA:209335
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg...	OMIM:613101
Primary Sclerosing Cholangitis	Osteopenia, Abnormal eosinophil morphology, Spider hemangioma, Hypoalbuminemia, Hepatic fibrosis,...	ORPHA:171
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Spinal rigidity, Kyphosis, Flexion contrac...	OMIM:254090
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a...	OMIM:600175
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom...	OMIM:259710
X-Linked Charcot-Marie-Tooth Disease Type 1	Distal lower limb amyotrophy, Ataxia, Impaired pain sensation, Tremor, Kyphosis, Distal upper lim...	ORPHA:101075
Atypical Rett Syndrome	Restrictive behavior, Dystonia, Involuntary movements, Tremor, Tongue thrusting, Limb myoclonus, ...	ORPHA:3095
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Congenital Disorder Of Glycosylation, Type Ie	Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Ankle flexion contractu...	OMIM:608799
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Tricuspid regurgitation, Cardiomegaly, Abnormal circulating ceruloplasmin concentrat...	OMIM:620306
Spastic Paraplegia 46, Autosomal Recessive	Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Lower limb muscle weakne...	OMIM:614409
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus...	ORPHA:488650
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno...	OMIM:618654
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Dystonia, Limb hypertonia	ORPHA:324588
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Splenomegaly, U...	ORPHA:2585
Spinocerebellar Ataxia 50	Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor	OMIM:620158
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia, Dysphagia	OMIM:618637
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilo...	ORPHA:35858
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Abnormal macrophage morpho...	ORPHA:353
Subacute Inflammatory Demyelinating Polyneuropathy	Limitation of movement at ankles, Tremor, Leukocytosis, Absent patellar reflexes, Abnormality of ...	ORPHA:206594
Alg12-Cdg	Hyponatremia, Sandal gap, Proximal placement of thumb, Micrognathia, Long fingers, Abnormal bone ...	ORPHA:79324
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac...	ORPHA:90650
Polyglucosan Body Neuropathy, Adult Form	Peripheral axonal neuropathy, Orthostatic hypotension, Neurogenic bladder, Spastic paraplegia, Di...	OMIM:263570
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention...	OMIM:301310
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia	ORPHA:3283
Acquired Partial Lipodystrophy	Insulin resistance, Hepatic steatosis, Lymphocytosis	ORPHA:79087
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Dystonia, Parkinsonism with favorable re...	ORPHA:240085
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Hjv Or Hamp-Related Hemochromatosis	Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,...	ORPHA:79230
Developmental And Epileptic Encephalopathy 107	Abnormal repetitive mannerisms	OMIM:620033
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Joint laxity, Hypoglycemia, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Hy...	OMIM:617093
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Elevated circulating creatine kinase concentration, Acanthocyt...	OMIM:300842
Graft Versus Host Disease	Dupuytren contracture, Tachycardia, Acute hepatitis, Limited elbow movement, Jaundice, Limited sh...	ORPHA:39812
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis, C...	OMIM:105500
Spinocerebellar Ataxia 23	Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia	OMIM:610245
Adult-Onset Nemaline Myopathy	Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Bradyk...	ORPHA:171442
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone...	ORPHA:1879
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Insul...	ORPHA:363400
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus	OMIM:615362
Hemochromatosis, Type 1	Hepatomegaly, Diabetes mellitus, Cardiomegaly, Increased circulating ferritin concentration, Cong...	OMIM:235200
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density, Spastic paraplegia	OMIM:250500
Combined Oxidative Phosphorylation Deficiency 54	Microretrognathia, Tachycardia, Tremor, Hemiparesis, Hypertonia, Hyperglycemia	OMIM:619737
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Lower limb spasticity, Abnormality of the musculature of the lower limbs, Retinal dystrophy, Atax...	ORPHA:464282
Nephrotic Syndrome, Type 11	Arachnodactyly, Micrognathia, Partial duplication of thumb phalanx, Dilated cardiomyopathy, Hypoa...	OMIM:616730
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Incoordination, Ataxia, Dystonia, Aggressive behavior, Tremor, Paraparesis, Babin...	OMIM:615157
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Tremor, Kyphosis, Paraparesis, Optic atrophy, Skeletal muscle hy...	ORPHA:99014
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Hepatomegaly, Increased mean platelet volume, Avascular necrosis of the cap...	OMIM:222470
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Facial hypotonia, Slender build, Astrocytosis	OMIM:611087
Epilepsy, Familial Adult Myoclonic, 3	Tremor, Myoclonus	OMIM:613608
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Hyperactivity, Tremor, Rigidity, Dysmetria, Gait ataxia	OMIM:618090
Epilepsy, Familial Adult Myoclonic, 1	Tremor	OMIM:601068
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia, Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90036
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Scorpion Envenomation	Bundle branch block, Increased circulating NT-proBNP concentration, Tremor, Prominent U wave, Hyp...	ORPHA:466677
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Parkinsonism, Temporal cortical atrophy, Astrocytosis, Fr...	ORPHA:100070
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast...	ORPHA:363654
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul...	OMIM:617114
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Generalized dystonia, Ataxia, Pancytopenia, Aggressive behavior, Chorea, Dilated car...	OMIM:618321
Giant Axonal Neuropathy 1, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Curly hair, Facial palsy, Spastic paraple...	OMIM:256850
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Lower limb spasticity, Short stature, Hyperlordosis, Spinal rigidity, Kyphosis, Increased adipose...	OMIM:617404
Congenital Erythropoietic Porphyria	Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulating porphyrin conce...	ORPHA:79277
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Stiff neck, Elevated circulating creatine kinase concentration, Anorexia, Ab...	ORPHA:99827
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoglycemia, Elevated circulating creatine kinase concentration, Clonus, Intraventricular hemorr...	OMIM:619055
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomegaly, Stiff interphalangeal joints, Hyperglycemia, Hepatomegaly, Portal hypertension, Ost...	ORPHA:465508
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Thrombocytosis, Anemia of inadequate production, Megaloblastic a...	OMIM:617780
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration,...	OMIM:109130
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Chylomicron Retention Disease	Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia	OMIM:246700
Juvenile Polyposis Syndrome	Clubbing, Hematochezia, Hypokalemia, Hypoalbuminemia, Anemia	OMIM:174900
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Lumbar hyperlordosis, Facial palsy, Ra...	OMIM:160500
Oculopharyngodistal Myopathy 2	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of...	OMIM:618940
Congenital Myopathy 6 With Ophthalmoplegia	Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ...	OMIM:605637
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Gait ataxia	OMIM:609425
Optic Atrophy 11	Ataxia, Optic nerve hypoplasia, Short stature, Splenomegaly, Gait apraxia, Optic atrophy, Increas...	OMIM:617302
Myopathy, Tubular Aggregate, 1	Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi...	OMIM:160565
Amyotrophic Lateral Sclerosis 11	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Somatic sensory dysfunction, Decreased ne...	OMIM:612577
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ...	ORPHA:35689
S-Adenosylhomocysteine Hydrolase Deficiency	Pes planus, Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine...	ORPHA:88618
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Short stature, Increased connective tissue, Scarring alopecia of scalp, Motheaten muscle fibers, ...	OMIM:226670
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns...	OMIM:619405
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c...	ORPHA:536516
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation, Skeletal muscle atrophy, Ataxia, Progressive intervertebral ...	ORPHA:480
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reacti...	OMIM:619381
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Scapular winging, Lower limb spasticity, Spinal muscular atrophy, Hyperlordosis,...	OMIM:615290
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo...	ORPHA:2790
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop...	OMIM:618986
Ataxia-Telangiectasia	Diabetes mellitus, Telangiectasia of the skin, Ataxia, Tremor, Gait disturbance, Type II diabetes...	ORPHA:100
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Elevated circulating C-rea...	ORPHA:829
Autism, Susceptibility To, 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608049
Classic Galactosemia	Speech apraxia, Hepatomegaly, Incoordination, Postural tremor, Ataxia, Hypoglycemia, Abnormal ery...	ORPHA:79239
Saccharopinuria	Tremor, Hypercystinemia, Hyperammonemia, Gait ataxia, Spastic diplegia, Abnormality of circulatin...	ORPHA:3124
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Ataxia, Splenomegaly, Hyperprolinemia, Cardiomyopath...	OMIM:619046
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome	Ataxia, Abnormality of hair texture, Growth delay, Sparse or absent eyelashes, Pili torti, Aplasi...	ORPHA:2891
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f...	OMIM:615422
Pseudohypoparathyroidism Type 1A	Short metatarsal, Reduced bone mineral density, Choreoathetosis, Hypocalcemia, Hypocalcemic tetan...	ORPHA:79443
Sialidosis Type 2	Skeletal muscle atrophy, Inguinal hernia, Ataxia, Short stature, Tremor, Kyphosis, Splenomegaly, ...	ORPHA:87876
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus...	OMIM:620138
Pyridoxal Phosphate-Responsive Seizures	Pyridoxine-responsive sideroblastic anemia, Hypoglycemia, Abnormal circulating glycine concentrat...	ORPHA:79096
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Bradykinesia, Parkinsonism	OMIM:614251
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density, Pedal edema	ORPHA:75325
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Variegate Porphyria	Tachycardia, Paralysis	OMIM:176200
Parkinsonism With Polyneuropathy	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:619279
Parastremmatic Dwarfism	Severe short stature, Short neck, Kyphosis, Flexion contracture, Scoliosis	OMIM:168400
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618906
Gaucher Disease	Osteopenia, Elevated circulating C-reactive protein concentration, Tremor, Osteoarthritis, Hepato...	ORPHA:355
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
X-Linked Charcot-Marie-Tooth Disease Type 4	Skeletal muscle atrophy, Ataxia, Impaired pain sensation, Decreased nerve conduction velocity, Ky...	ORPHA:101078
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity, Hepatic fibrosis, Talip...	OMIM:616719
Timothy Syndrome	Prolonged QT interval, Hypoglycemia, Cardiomegaly, Ventricular tachycardia, Atrioventricular bloc...	OMIM:601005
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoglycemia, Hypoplasia of the radius, Short...	OMIM:607143
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Arthritis, Limitation of joint mobility, Eosinophilia	ORPHA:2582
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm...	ORPHA:397946
Juvenile Neuronal Ceroid Lipofuscinosis	Tachycardia, Poor motor coordination, Parkinsonism, Clumsiness, Poor fine motor coordination, Myo...	ORPHA:79264
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Kyphosis, Flexion contracture, Optic atrophy, Ba...	OMIM:609541
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami...	ORPHA:99750
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Tachycardia, Elevated circulating creatine kinase concentration, Highly elevated creatine kinase,...	ORPHA:368
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,...	OMIM:617145
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Skeletal muscle atrophy, Ragged-red muscle fibers, Optic atrophy, Decreased a...	OMIM:616239
Lethal Congenital Contracture Syndrome 1	Skeletal muscle atrophy, Hypoplasia of the musculature, Paucity of anterior horn motor neurons, A...	OMIM:253310
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hepatomegaly, Anemia of inadequate production, Hi...	ORPHA:231214
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t...	ORPHA:3416
Porphyria Variegata	Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Hypertension, Abnormalit...	ORPHA:79473
Foxg1 Syndrome	Bruxism, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia, Spasticity, Abnormal repet...	ORPHA:561854
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia, Lympha...	OMIM:602579
Congenital Myopathy 14	Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ...	OMIM:618414
Diastrophic Dysplasia	Bowing of the long bones, Increased bone mineral density, Camptodactyly of finger, Proximal place...	ORPHA:628
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Clinodactyly of the 5th finger, Lymphopenia, Hypoproteinemia	ORPHA:1116
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Paraparesis, Babinski s...	OMIM:606693
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Pa...	OMIM:242150
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:617836
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Hypokalemia, Tachycardia, Periodic paralysis	OMIM:613239
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Periostosis, Hyperostosis, Clubbing, Hypoalbuminemia	OMIM:614441
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Cerebral palsy, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behavi...	OMIM:301107
Propionic Acidemia	Hepatomegaly, Pancytopenia, Hypoglycemia, Thrombocytopenia, Cerebellar hemorrhage, Osteoporosis, ...	OMIM:606054
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hyperactivity, Pericardial lymphangiectasia, Thyroid lymphangiectasia, Hypoplastic iliac wing, Sm...	OMIM:235510
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Tremor, Limitation of joint mobility, Hypertension, Hypertonia, Gait disturbance, Type I diabetes...	ORPHA:1192
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy, Tet...	OMIM:617892
Pseudohypoparathyroidism Type 1C	Calcinosis, Prolonged QT interval, Short metacarpal, Short fifth metatarsal, Increased bone miner...	ORPHA:79444
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Nail-biting, Tachycardia, Hyperactivity, Tapered finger, 2-3 toe syndactyly, Abnor...	ORPHA:485405
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Increased connective tissue, Muscular dystrophy, Increased variability i...	OMIM:253601
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Tremor, Dysmetria, Decerebrate rigidity, Progressive spastic...	ORPHA:845
Combined Oxidative Phosphorylation Deficiency 29	Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Decreased activity of m...	OMIM:616811
Amyotrophic Lateral Sclerosis 16, Juvenile	Lower limb spasticity, Amyotrophic lateral sclerosis, Lower limb muscle weakness, Weakness of the...	OMIM:614373
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Systemic Lupus Erythematosus 17	Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Chorea, Leukopenia, Mitral reg...	OMIM:301080
Ataxia-Telangiectasia	Conjunctival telangiectasia, Diabetes mellitus, Ataxia, Elevated circulating alpha-fetoprotein co...	OMIM:208900
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Thrombocytopenia	OMIM:615085
Acquired Methemoglobinemia	Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia	ORPHA:464453
Myotonic Dystrophy 2	Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio...	OMIM:602668
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Cerebellar atrophy, Skeletal muscle atrophy, Vertebral fusion, Elbow contracture, Facial palsy, H...	OMIM:606612
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Spinocerebellar Ataxia Type 36	Ataxia, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb ataxia, Dysphagia, Tongue fas...	ORPHA:276198
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Pancytopenia, Hypoglycemia, Portal hypertension, Rickets, Cholestasis, ...	OMIM:613658
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Cerebellar atrophy, Ataxia, Gait ataxia, Increased variability in muscle fiber diameter, Enamel h...	OMIM:617915
Mercury Poisoning	Tachycardia, Anorexia, Tremor, Hypertension, Hypokalemia, Hypotension, Dystonia	ORPHA:330021
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Dysphagia, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia	OMIM:233910
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Pigmentary retinopathy, Myopathy, Scoliosis, Decreased activity of mitochondrial comple...	OMIM:618234
Congenital Fibrinogen Deficiency	Tachycardia, Splenic rupture, Opisthotonus, Clubbing of fingers, Left ventricular hypertrophy, In...	ORPHA:335
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Focal Cortical Dysplasia, Type Ii	Hemiparesis, Astrocytosis	OMIM:607341
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti...	ORPHA:3202
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Tremor, Rigidity, Dysphagia, Choreoathetosis, Bradykinesia, Hypertonia, Dys...	OMIM:261640
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Elevated circulating acylcarnitine concentration, Ventricular tachycardia, Hyperamm...	ORPHA:159
Amyotrophic Lateral Sclerosis 1	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal...	OMIM:105400
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia	OMIM:207731
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis, Short stature, Cerebral atrophy, Camptodactyly	OMIM:618453
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ...	ORPHA:1451
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Tachycardia, Hypoglycemia, Elevated circulating creatine kinase concentration, Sudd...	OMIM:614921
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia	OMIM:618587
Classic Glucose Transporter Type 1 Deficiency Syndrome	Dystonia, Ataxia, Paralysis, Abnormal erythrocyte morphology, Chorea, Choreoathetosis, Hemiparesi...	ORPHA:71277
Leber Hereditary Optic Neuropathy	Postural tremor, Ataxia, Retinal telangiectasia, Ventricular preexcitation, Arrhythmia	ORPHA:104
Stuve-Wiedemann Syndrome 1	Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Short tibia, Short phalanx...	OMIM:601559
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration...	ORPHA:54251
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Resting tremor, Hyperactivity, Parkinsonism, Anorexia, Aggressive behavior...	ORPHA:3077
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Pseudo-Torch Syndrome 3	Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Ly...	OMIM:618886
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Cardiac arrest, Anorexia, Megaloblastic anemia, Paroxysmal atrial tachycardia,...	ORPHA:49827
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Cataract-Ataxia-Deafness Syndrome	Tremor, Hypertonia, Ataxia	ORPHA:1368
Oromandibular Dystonia	Torticollis, Generalized dystonia, Bruxism, Dysphagia, Blepharospasm, Hyperkinetic movements, Lim...	ORPHA:93958
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Aggress...	OMIM:612953
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Gm1-Gangliosidosis, Type Iii	Skeletal muscle atrophy, Diffuse cerebral atrophy, Dystonia, Ataxia, Short stature, Kyphosis, Slu...	OMIM:230650
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Combined Oxidative Phosphorylation Defect Type 27	Diffuse cerebral atrophy, Involuntary movements, Upper limb postural tremor, Ragged-red muscle fi...	ORPHA:477774
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Secondary Intestinal Lymphangiectasia	Lymphopenia, Right ventricular failure, Reduced circulating transferrin concentration, Chylous as...	ORPHA:90363
Developmental And Epileptic Encephalopathy 30	Abnormal repetitive mannerisms	OMIM:616341
Pseudohypoparathyroidism Type 1B	Calcinosis, Prolonged QT interval, Increased bone mineral density, Cortical subperiosteal resorpt...	ORPHA:94089
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia, Myoclonus	OMIM:605899
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Zimmermann-Laband Syndrome 3	Thick hair, Kyphosis, Synophrys, Flexion contracture, Low anterior hairline, Patent ductus arteri...	OMIM:618658
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Peripheral axonal neuropathy, Spinal muscular atrophy, Patent ductus art...	OMIM:616867
Urocanic Aciduria	Action tremor, Ataxia, Truncal ataxia, Gait ataxia	ORPHA:210128
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:614895
Danon Disease	Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concentration, Cardiomegaly,...	OMIM:300257
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Distal lower limb muscle weakness, Paralysis	OMIM:608634
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Cerebellar atrophy, Neuropathic spinal arthropathy, Decreased mitochondrial number, Spinal rigidi...	ORPHA:352447
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Decreased activity of mitochondrial ATP synthase complex, Ragged-red muscle fibers, Decreased act...	OMIM:609560
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,...	OMIM:616812
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Cerebral palsy, Chorea, Myoclonus, Attention deficit hyperactivity disorder, Recur...	OMIM:617600
Infantile Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Dysphagia, Myoclonus...	ORPHA:79263
Hypotonia, Infantile, With Psychomotor Retardation	Myopathy, Lateral ventricle dilatation, Increased variability in muscle fiber diameter, Cryptorch...	OMIM:616816
Spinocerebellar Ataxia 28	Cerebellar atrophy, Somatic sensory dysfunction, Parkinsonism, Ragged-red muscle fibers, Babinski...	OMIM:610246
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Anorexia, Hypersplenism, Thromboc...	ORPHA:98850
Combined Oxidative Phosphorylation Deficiency 38	Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com...	OMIM:618378
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Dysplastic corpus callosum, Fragile nails, Fine hair	ORPHA:500166
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia	OMIM:613886
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone...	ORPHA:89936
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Refractory anemia, Hematochezia, Melena, Clubbing of fingers, Midcla...	ORPHA:79076
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Decreased nerve conduction velocity, Fatty replacement of skeletal muscle, Tremor, Vocal cord par...	ORPHA:397744
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Lower limb muscle weakness, Angulated muscle fibers, Decreased number of large peripheral myelina...	OMIM:608340
Combined Oxidative Phosphorylation Defect Type 29	Optic neuropathy, Axonal degeneration, Poor coordination, Decreased activity of mitochondrial com...	ORPHA:478029
Developmental And Epileptic Encephalopathy 6B	Ataxia, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia, Abnormal repetitive...	OMIM:619317
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Jaundice, Chron...	ORPHA:90033
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Dystonia	OMIM:618049
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Crigler-Najjar Syndrome Type 1	Tremor, Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Pro...	ORPHA:79234
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis	ORPHA:178377
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Ankle swelling, Anorexia, Leukocytosis, Cervical lymphadenopathy, Lymph...	ORPHA:514
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Ataxia, Tremor, Small hand, Truncal ataxia, Dysmetria, Gait ataxia, Short foot,...	OMIM:610185
Herpes Simplex Virus Encephalitis	Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ...	ORPHA:1930
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia, Hypoproteinemia	OMIM:221400
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Hemochromatosis, Neonatal	Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,...	OMIM:231100
Combined Oxidative Phosphorylation Deficiency 37	Hypoglycemia, Spasticity, Hypoalbuminemia, Macrovesicular hepatic steatosis, Bile duct proliferat...	OMIM:618329
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Short foot, Compulsive behaviors, Reduction of neutrophil motility, Brachydactyly	OMIM:266265
Cirrhotic Cardiomyopathy	Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom...	ORPHA:57777
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Joint stiffness, Splenomegaly, Reduced bone mineral density, Leukopenia, Lymphopeni...	OMIM:620210
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Distal lower limb muscle weakness, Paralysis	OMIM:158590
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ataxia, Rigidity, Metaphyseal widening, Craniofacial osteosclerosis, Increased skull ossification...	OMIM:618476
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Ataxia	OMIM:278780
Hereditary Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Tachycardia, Elevated carcinoembryonic antigen level	ORPHA:264675
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cerebellar atrophy, Hypoplastic toenails, Decreased activity of mitochondrial complex IV, Cerebra...	OMIM:604377
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Tachycardia, Palpitations, Periodic paralysis	OMIM:188580
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Rick...	ORPHA:289176
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Fasciculations, Proximal ...	OMIM:608030
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Hyperlordosis, Flexion contracture, Muscl...	OMIM:253700
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Pulmonary embolism, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abn...	ORPHA:567548
Typical Nemaline Myopathy	Facial palsy, Short neck, Hyperlordosis, Limb-girdle muscle weakness, Kyphosis, Flexion contractu...	ORPHA:171436
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Dysphagia, Spastic gait	OMIM:616795
Japanese Encephalitis	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Hyperintensity of MRI T2 sign...	ORPHA:79139
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Abnormal left ventricular ...	ORPHA:45452
Muckle-Wells Syndrome	Leukocytosis, Clubbing of fingers, Elevated circulating C-reactive protein concentration	OMIM:191900
Myasthenic Syndrome, Congenital, 12	Retinoschisis, Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy	OMIM:610542
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Hyperbilir...	ORPHA:713
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Tremor, Gait ataxia, Hypertonia, Myoclonus, Abnormal repetitive mannerisms	OMIM:619092
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Fasciculations, Dysphagia	OMIM:313200
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density, Hyperinsulinemia, Polyphagia	OMIM:618406
Familial Cold Autoinflammatory Syndrome 1	Arthritis, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:120100
Combined Oxidative Phosphorylation Deficiency 8	Decreased activity of mitochondrial complex I, Increased variability in muscle fiber diameter, De...	OMIM:614096
Spondyloepiphyseal Dysplasia Tarda	Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e...	ORPHA:93284
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Elevated circulating phytanic acid concentration, Hemiparesis, Abnormality of the...	OMIM:614307
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Scapular winging, Hyperlordosis, Microcytic anemia, Ra...	OMIM:600462
Liver Failure, Infantile, Transient	Hepatomegaly, Microvesicular hepatic steatosis, Jaundice, Hypoalbuminemia, Macrovesicular hepatic...	OMIM:613070
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Spasticity	OMIM:213200
Spinocerebellar Ataxia Type 27	Aggressive behavior, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Truncal ataxia	ORPHA:98764
Giant Axonal Neuropathy	Facial palsy, Babinski sign, Spasticity, Distal sensory impairment, Diffuse axonal swelling, Scol...	ORPHA:643
Sandhoff Disease	Ataxia, Splenomegaly, Kyphosis, Cherry red spot of the macula, Failure to thrive	ORPHA:796
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Ataxia, Short stature, Kyphosis, Tongue fasciculations, Facial myokymia, Failure to thrive	OMIM:620007
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hand tremor, Periodic paralysis	OMIM:609153
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Hyperlordosis, Fatty replacement of skeletal muscle, Achilles tendon contractu...	OMIM:620249
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Short neck, Vocal cord paralysis, Decreased cervical spine flexion due to contractures...	ORPHA:98863
Flynn-Aird Syndrome	Skeletal muscle atrophy, Alopecia, Ataxia, Cachexia, Impaired pain sensation, Kyphosis, Scoliosis...	ORPHA:2047
Amyotrophic Lateral Sclerosis 8	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Postural tremor, Abnormal pyramidal sign,...	OMIM:608627
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Spinocerebellar Ataxia, Autosomal Recessive 8	Cerebellar atrophy, Peripheral axonal neuropathy, Kyphosis, Optic atrophy, Dysmetria, Gait ataxia...	OMIM:610743
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ...	OMIM:612937
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen...	ORPHA:300298
Immunodeficiency 95	Lymphopenia	OMIM:619773
Amyotrophic Lateral Sclerosis 20	Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy	OMIM:615426
Coenzyme Q10 Deficiency, Primary, 1	Right hemiplegia, Pancytopenia, Ataxia, Elevated circulating creatine kinase concentration, Tremo...	OMIM:607426
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Skeletal muscle atrophy, Resting tremor, Facial palsy, Parkinsonism, Impaired distal propriocepti...	OMIM:157640
Refractory Anemia	Normocytic anemia, Abnormal cardiac ventricular function, Macrocytic anemia, Anemia of inadequate...	ORPHA:98826
Muscle Filaminopathy	Back pain, Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory mus...	ORPHA:171445
Leukodystrophy, Hypomyelinating, 11	Tremor, Spasticity, Ataxia, Myoclonus	OMIM:616494
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Dystonia	ORPHA:306669
Beta-Ketothiolase Deficiency	Hepatomegaly, Ataxia, Hypoglycemia, Anorexia, Leukocytosis, Hyperammonemia, Spasticity, Hypertens...	ORPHA:134
Smith-Lemli-Opitz Syndrome	Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Talipes calc...	OMIM:270400
Glut1 Deficiency Syndrome 1	Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S...	OMIM:606777
Sialidosis Type 1	Skeletal muscle atrophy, Ataxia, Short stature, Decreased nerve conduction velocity, Kyphosis, Sp...	ORPHA:812
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Witkop Syndrome	Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair	OMIM:189500
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hypertonia, ...	ORPHA:79477
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Thic...	OMIM:127000
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia	ORPHA:139485
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Restlessness, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic para...	OMIM:300055
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypoglycemia, Hyperammonemia, Dysphagia, Neutropenia, Loss of ambulation, Spasticity, Craniofacia...	OMIM:618253
Staphylococcal Necrotizing Pneumonia	Shock, Diabetes mellitus, Neutrophilia, Elevated circulating C-reactive protein concentration, Le...	ORPHA:36238
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Recurrent fr...	OMIM:239000
Amyotrophic Lateral Sclerosis 9	Amyotrophic lateral sclerosis, Distal amyotrophy, Spasticity	OMIM:611895
Oculopharyngodistal Myopathy 4	Autophagic vacuoles, Postural tremor, Fatty replacement of skeletal muscle, Tremor, Increased var...	OMIM:619790
Cln3 Disease	Extrapyramidal muscular rigidity, Ataxia, Aggressive behavior, Vacuolated lymphocytes, Bradykines...	ORPHA:228346
Pycnodysostosis	Joint laxity, Increased bone mineral density, Rhizomelia, Lower limb asymmetry, Micrognathia, Gen...	ORPHA:763
Eiken Syndrome	Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal trabecular ...	ORPHA:79106
Ullrich Congenital Muscular Dystrophy 2	Facial palsy, Kyphoscoliosis, Flexion contracture, Increased variability in muscle fiber diameter...	OMIM:616470
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Hepatomegaly, Osteomyelitis, Neutrophilia, Abscess, Elevated circulating C-reactive p...	OMIM:612852
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Emery-Dreifuss Muscular Dystrophy	Back pain, Vocal cord paralysis, Decreased cervical spine flexion due to contractures of posterio...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Vocal cord paralysis, Decreased cervical spine flexion due to contractures of posterio...	ORPHA:98853
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ...	OMIM:603689
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin con...	OMIM:618892
Schwartz-Jampel Syndrome	Elevated circulating creatine kinase concentration, Micromelia, Micrognathia, Coxa vara, Hyperton...	ORPHA:800
Machado-Joseph Disease Type 1	Cerebellar atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Substantia nigra glios...	ORPHA:276238
Machado-Joseph Disease Type 2	Cerebellar atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Substantia nigra glios...	ORPHA:276241
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Hsd10 Disease	Ataxia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Myoclonus, Spastic paraparesis	ORPHA:391417
Mitochondrial Dna Depletion Syndrome 11	Cerebellar atrophy, Neuropathic spinal arthropathy, Facial palsy, Spinal rigidity, Kyphosis, Ragg...	OMIM:615084
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:615541
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Ataxia, Hypoglycemia, Severe temper tantrums, Aggressive behavior, Tremor, Spastic tetraplegia, D...	OMIM:617710
Mitochondrial Complex I Deficiency, Nuclear Type 21	Ataxia, Ragged-red muscle fibers, Babinski sign, Growth delay, Myopathy, Decreased activity of mi...	OMIM:618242
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Severe Intellectual Disability And Progressive Spastic Paraplegia	Babinski sign, Spastic dysarthria, Dystonia, Spasticity, Abnormal repetitive mannerisms, Progress...	ORPHA:280763
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal...	OMIM:201170
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentr...	ORPHA:158048
Neuropathy, Hereditary, With Liability To Pressure Palsies	Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Hand...	OMIM:162500
Combined Oxidative Phosphorylation Deficiency 18	Skeletal muscle atrophy, Macrocytic anemia, Increased mitochondrial number, Tremor, Dysmetria, De...	OMIM:615578
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Hematemesis, Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevate...	ORPHA:340
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Tachycardia, Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, He...	ORPHA:348
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Weakness of facial musculature, Increased endomysial connective tissue, Increased variability in ...	OMIM:620265
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Short stature, Abnormal dental enamel morphology, Kyphosis, ...	ORPHA:816
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Hypoglycemia, Elevated circulating creatinine concentration, Increase...	OMIM:617872
3-Methylglutaconic Aciduria, Type Viib	Rhizomelia, Ataxia, Micrognathia, Tremor, Congestive heart failure, Thrombocytopenia, Flexion con...	OMIM:616271
Combined Oxidative Phosphorylation Deficiency 31	Hypertonia, Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased ...	OMIM:617228
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, Ataxia, Gait ataxia	OMIM:617831
Spinocerebellar Ataxia, Autosomal Recessive 31	Ataxia, Tremor, Bruxism, Dysphagia, Choreoathetosis, Dystonia, Self-mutilation	OMIM:619422
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly	OMIM:618838
Amyotrophic Lateral Sclerosis 18	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Spasticity	OMIM:614808
Autism Spectrum Disorder Due To Auts2 Deficiency	Inguinal hernia, Cerebral palsy, Small for gestational age, Short stature, Highly arched eyebrow,...	ORPHA:352490
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Anorexia	ORPHA:1302
Griscelli Syndrome	Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Pedal edema,...	ORPHA:381
Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodeg...	ORPHA:803
Gerstmann-Straussler Disease	Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoc...	OMIM:137440
Necrotizing Enterocolitis	Hyponatremia, Shock, Leukocytosis, Peritonitis, Neutropenia, Bradycardia, Hypotension, Abnormal g...	ORPHA:391673
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Micrognathia, Coxa valga, Flattened epiphysis, Flat acetabular ro...	ORPHA:163649
Autosomal Recessive Spastic Paraplegia Type 53	Impaired vibratory sensation, Clonus, Kyphosis, Impaired proprioception, Upper limb hypertonia, L...	ORPHA:319199
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Leukopenia, Hepatomegaly, Ataxia, Portal h...	OMIM:615688
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Glycogen Storage Disease Ixb	Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content	OMIM:261750
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Hypoglycemia, Cardiomeg...	ORPHA:42
Galloway-Mowat Syndrome 1	Dystonia, Ataxia, Micrognathia, Spastic tetraplegia, Hypoalbuminemia, Talipes equinovarus, Campto...	OMIM:251300
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis	OMIM:122860
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kin...	ORPHA:98855
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Fanconi Anemia, Complementation Group V	Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari...	OMIM:617243
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Congenital Myasthenic Syndromes With Glycosylation Defect	Scapular winging, Lumbar hyperlordosis, Facial palsy, Generalized weakness of limb muscles, Limb-...	ORPHA:353327
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykin...	OMIM:618877
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Fetal ascites, Generalized osteosclerosis, Squared iliac bones, Flared ...	OMIM:215045
Gm1 Gangliosidosis	Tremor, Abnormal form of the vertebral bodies, Decerebrate rigidity, Cherry red spot of the macul...	ORPHA:354
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, L...	ORPHA:1423
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Amyotrophic lateral sclerosis, Limb muscle weakness, Fasciculations	OMIM:619141
Primary Biliary Cholangitis	Orthostatic hypotension, Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Osteoporos...	ORPHA:186
Andersen-Tawil Syndrome	Periodic hyperkalemic paralysis, Micrognathia, Prominent U wave, Abnormal T-wave, Periodic hypoka...	ORPHA:37553
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric...	OMIM:614954
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Hyperammonemia, Cardio...	OMIM:251000
Hydroxykynureninuria	Tachycardia, Abnormal circulating tryptophan concentration, Hypertonia, Hypotension, Abnormal rep...	ORPHA:79155
Zebra Body Myopathy	Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr...	ORPHA:97240
Mirage Syndrome	Hyponatremia, Hypoglycemia, Rocker bottom foot, Radial club hand, Thrombocytopenia, Hyperkalemia,...	OMIM:617053
Sneddon Syndrome	Cerebral hemorrhage, Tremor, Hypertension, Ischemic stroke, Hemiplegia, Lymphopenia	OMIM:182410
Legionnaires Disease	Hyponatremia, Pericarditis, Ataxia, Anorexia, Myocarditis, Splenomegaly, Jaundice, Hepatitis, Lym...	ORPHA:549
Hereditary Chronic Pancreatitis	Diabetes mellitus, Elevated circulating C-reactive protein concentration, Leukocytosis, Jaundice,...	ORPHA:676
Cardiomyopathy, Dilated, 1X	Calf muscle hypertrophy, Increased variability in muscle fiber diameter	OMIM:611615
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron, Cho...	OMIM:603358
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Attention deficit hyperact...	OMIM:620211
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor	ORPHA:66633
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ...	ORPHA:34516
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Decreased muscle mass, Short stature, Kyphosis, Distal arthr...	OMIM:108145
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Congestive heart failure, Microves...	OMIM:617156
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Peripheral axonal neuropathy, Ataxia, Short stature, Impaired pain sensation, Kyphosis, Obesity, ...	OMIM:618124
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle...	OMIM:181405
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Ataxia, Ragged-red muscle fibers, Decreased activity of mitochondrial complex III, Athetosis, Abn...	OMIM:615159
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Tremor, Splenomega...	ORPHA:667
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,...	ORPHA:90065
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Psoriasis 14, Pustular	Neutrophilia, Cholangitis, Elevated circulating C-reactive protein concentration, Leukocytosis, O...	OMIM:614204
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Facial palsy, Decreased compound muscle action potential amplitude, Flexion contracture, Shoulder...	OMIM:603511
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Bleph...	OMIM:128100
Juvenile Temporal Arteritis	Leukocytosis, Vasculitis, Cerebral ischemia, Eosinophilia	ORPHA:26137
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari...	OMIM:608807
Bilateral Generalized Polymicrogyria	Oculogyric crisis, Oral-pharyngeal dysphagia, Spastic tetraplegia, Eyelid myoclonus, Self-injurio...	ORPHA:208447
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexia, Hype...	OMIM:619386
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Spasticity, Abnormal repetitive mannerisms	OMIM:617393
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter	ORPHA:1878
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Dyspha...	OMIM:607483
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Congenital Analbuminemia	Hyperlipidemia, Pedal edema, Increased alpha-globulin, Hypoalbuminemia, Low pulse pressure, Hyper...	ORPHA:86816
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Apraxi...	OMIM:620141
Peroxisome Biogenesis Disorder 5B	Joint laxity, Ataxia, Tremor, Unsteady gait, Elevated circulating phytanic acid concentration, Dy...	OMIM:614867
Eisenmenger Syndrome	Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Pedal edema, Iron...	ORPHA:97214
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic paraparesis	OMIM:300894
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Abnormal mitochondrial shape, Patent ductus arteriosus, Flexion contract...	ORPHA:17
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Parkinsonism, Rigidity, Clumsiness, Bradykinesia, Dystonia	OMIM:619911
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Glucose intolerance, Abn...	ORPHA:254892
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Hypoglycemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Dila...	OMIM:618120
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Intellectual Developmental Disorder, Autosomal Dominant 26	Inguinal hernia, Cerebral palsy, Small for gestational age, Short stature, Highly arched eyebrow,...	OMIM:615834
Myotubular Myopathy With Abnormal Genital Development	Bilateral cryptorchidism, Myopathy, Unilateral cryptorchidism, Centrally nucleated skeletal muscl...	OMIM:300219
Ane Syndrome	Alopecia, Multiple joint contractures, Lipoatrophy, Short stature, Kyphoscoliosis, Motor neuron a...	ORPHA:157954
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu...	OMIM:618849
Congenital Myopathy 15	Fatty replacement of skeletal muscle, Vocal cord paralysis, Increased variability in muscle fiber...	OMIM:620161
Poems Syndrome	Sclerosis of hand bone, Diabetes mellitus, Thrombocytosis, Sclerosis of foot bone, Metaphyseal sc...	ORPHA:2905
Pontocerebellar Hypoplasia, Type 11	Ataxia, Poor coordination, Limb ataxia, Self-injurious behavior, Attention deficit hyperactivity ...	OMIM:617695
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, Palmoplantar ke...	OMIM:611528
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter	OMIM:302045
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Melorheostosis	Increased bone mineral density, Joint stiffness, Lower limb asymmetry, Arthritis, Hyperostosis, E...	ORPHA:2485
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Intracranial...	ORPHA:3226
Camurati-Engelmann Disease	Waddling gait, Increased bone mineral density, Diaphyseal sclerosis, Genu valgum, Cortical thicke...	OMIM:131300
Trichothiodystrophy	Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Hypopl...	ORPHA:33364
Cln5 Disease	Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, Tremor, Poor gross m...	ORPHA:228360
Genetic Steroid-Resistant Nephrotic Syndrome	Peritonitis, Hypoalbuminemia	ORPHA:656
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-injurious behavior, Abnormali...	ORPHA:382
Vocal Cord And Pharyngeal Distal Myopathy	Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Decreased nerve con...	ORPHA:600
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis, Small for gestational age, Hirsutism, Short stature	ORPHA:85288
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c...	ORPHA:90068
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Tremor, Dysphagia	OMIM:607734
Orotic Aciduria	Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi...	OMIM:258900
Gaucher Disease Type 3	Hepatomegaly, Increased bone mineral density, Pancytopenia, Ataxia, Thrombocytopenia, Splenomegal...	ORPHA:77261
Iron Overload, Susceptibility To	Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated circulati...	OMIM:620121
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu...	OMIM:619313
Cap Myopathy	Thoracic scoliosis, Lumbar hyperlordosis, Facial palsy, Abnormal muscle fiber morphology, Lower l...	ORPHA:171881
Pediatric-Onset Graves Disease	Hepatomegaly, Hyperactivity, Atrial fibrillation, Craniosynostosis, Tremor, Congestive heart fail...	ORPHA:525731
Bent Bone Dysplasia Syndrome 2	Osteopenia, Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowin...	OMIM:620076
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Hereditary Neuropathy With Liability To Pressure Palsies	Decreased motor nerve conduction velocity, Vocal cord paralysis, Paresthesia, Scoliosis	ORPHA:640
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Behr Syndrome	Ataxia, Tremor, Achilles tendon contracture, Unsteady gait, Babinski sign, Dysmetria, Adductor lo...	OMIM:210000
Porphyria, Acute Hepatic	Hemolytic anemia, Paralysis, Respiratory paralysis, Paresthesia, Failure to thrive	OMIM:612740
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat...	OMIM:605274
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Amyotrophic lateral sclerosis, Distal amyotrophy	OMIM:205200
Brunet-Wagner Neurodevelopmental Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:619690
Autosomal Recessive Ataxia, Beauce Type	Cerebellar atrophy, Chronic axonal neuropathy, Impaired vibratory sensation, Skeletal muscle atro...	ORPHA:88644
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation	OMIM:618042
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Tapered finger, Flexion contracture, Interphalangeal thumb joint contracture, Hypert...	OMIM:613870
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Jaberi-Elahi Syndrome	Appendicular spasticity, Brittle hair, Sparse eyelashes, Tremor, Kyphosis, Sparse eyebrow, Optic ...	OMIM:617988
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Vasculitis, Ly...	OMIM:617099
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Lipoatrophy, Splenomegaly, Abnormali...	ORPHA:2348
Gitelman Syndrome	Prolonged QT interval, Salt craving, Ataxia, Paralysis, Ventricular tachycardia, Hypokalemia, Inc...	OMIM:263800
Leukodystrophy, Hypomyelinating, 6	Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612438
Oculopharyngeal Muscular Dystrophy	Abnormal muscle fiber morphology, Ragged-red muscle fibers, Myopathy, Rimmed vacuoles, Spondyloli...	ORPHA:270
Mevalonic Aciduria	Normocytic hypoplastic anemia, Ataxia, Elevated circulating creatine kinase concentration, Elevat...	OMIM:610377
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Juvenile Huntington Disease	Broad-based gait, Hyperactivity, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive...	ORPHA:248111
Acute Panmyelosis With Myelofibrosis	Myelofibrosis, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,...	ORPHA:86843
12Q14 Microdeletion Syndrome	Diabetes mellitus, Micrognathia, Tremor, Abnormality of the spleen, Osteopoikilosis, Clinodactyly...	ORPHA:94063
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Ataxia, Cardiac arrest, Anorexia, Spas...	ORPHA:20
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Peroneal muscle atrophy, Chorea, Hypertonia, ...	ORPHA:2388
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:205250
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Waddling gait, Hepatomegaly, Elevated circulating creatine kinase concentration, Microcytic anemi...	OMIM:251900
Fragile X Tremor/Ataxia Syndrome	Resting tremor, Postural tremor, Parkinsonism, Action tremor, Dysmetria, Gait ataxia, Bradykinesi...	OMIM:300623
Mitochondrial Myopathy, Infantile, Transient	Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen...	OMIM:500009
Masa Syndrome	Lower limb spasticity, Short stature, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia, Ag...	OMIM:303350
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Chorea, Abnormal pyramidal si...	ORPHA:500180
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Gout, Hyperuricemia, Neutropenia, Anemia	OMIM:617056
Fetal Akinesia Deformation Sequence 4	Skeletal muscle atrophy, Short neck, Kyphosis, Cryptorchidism, Camptodactyly, Arthrogryposis mult...	OMIM:618393
Cholera	Hyponatremia, Tachycardia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypovolem...	ORPHA:173
Ataxia With Vitamin E Deficiency	Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dy...	ORPHA:96
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia	ORPHA:70594
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Limb dystonia, Axial dystonia, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, ...	OMIM:601104
Spinocerebellar Ataxia With Epilepsy	Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys...	ORPHA:254881
Wieacker-Wolff Syndrome	Dystonia, Short stature, Facial palsy, Short neck, Hyperlordosis, Kyphosis, High anterior hairlin...	OMIM:314580
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cerebellar atrophy, Abnormality of retinal pigmentation, Short stature, Hyperlordosis, Kyphosis, ...	ORPHA:3085
Galloway-Mowat Syndrome 3	Arachnodactyly, Micrognathia, Hip dislocation, Hypertension, Hypoalbuminemia, Camptodactyly, Spas...	OMIM:617729
De Sanctis-Cacchione Syndrome	Severe short stature, Ataxia, Bilateral cryptorchidism, Axonal degeneration, Optic atrophy, Sciss...	OMIM:278800
Familial Dysautonomia	Hyponatremia, Abnormal peritoneum morphology, Orthostatic hypotension, Tachycardia, Ataxia, Recur...	ORPHA:1764
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Joint hyp...	OMIM:614856
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Ataxia, Elevated circulating C-reactive protein concen...	ORPHA:50918
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint m...	ORPHA:324964
Chédiak-Higashi Syndrome	Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremi...	ORPHA:167
Adult-Onset Cervical Dystonia, Dyt23 Type	Axial dystonia, Torticollis, Writer's cramp, Limb tremor, Focal dystonia, Myoclonus, Head tremor,...	ORPHA:420492
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ...	ORPHA:542323
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Short stature, Abnormal retinal morphology, Albinism, Kyphosis, Platysp...	ORPHA:2786
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Extramedullary hematopoiesis, Ataxia, Spontaneous hemolytic crises...	ORPHA:822
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Anemia, Palmoplantar keratoderma, Hypoalbuminemia, Craniosynostosis	ORPHA:79396
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th...	OMIM:600081
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Broad-based gait, Tricuspid regurgitation, Decreased proportion o...	OMIM:619705
Barth Syndrome	Abnormal mitochondrial morphology, Abnormality of neutrophils	ORPHA:111
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Partial agenesis of th...	OMIM:234050
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Pulmona...	ORPHA:277
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormal retinal morphology, Abnormali...	ORPHA:170
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Small for gestational age, Short stature, Kyphoscoliosis, Hyperlordosis, Kinetic tremor, Increase...	OMIM:616817
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Thrombocytopenia, Micrognathia	ORPHA:1237
Short Stature, Microcephaly, And Endocrine Dysfunction	Lymphopenia, Broad-based gait, Diabetes mellitus, Ataxia, Insulin resistance, Dilated cardiomyopa...	OMIM:616541
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Vasculitis, Decr...	OMIM:617718
Spinocerebellar Ataxia Type 21	Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor...	ORPHA:98773
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Short Stature, Developmental Delay, And Congenital Heart Defects	Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms...	OMIM:617044
Serotonin Syndrome	Restlessness, Tachycardia, Clonus, Tremor, Rigidity, Hypertension, Hypertonia, Agitation, Myoclon...	ORPHA:43116
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Failure to thrive, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Ce...	OMIM:203700
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Micrognathia, Hematochezia, Hypoalbuminemia, Hypocalcemia, Hy...	OMIM:618183
Myopathy With Lactic Acidosis, Hereditary	Skeletal muscle atrophy, Sideroblastic anemia, Abnormal iron deposition in mitochondria, Rhabdomy...	OMIM:255125
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Clonus, Athetosis, Hyperalaninemia	OMIM:266150
Noonan Syndrome 12	11 pairs of ribs, Proximal placement of thumb, Lymphopenia, Thrombocytopenia, Supravalvular aorti...	OMIM:618624
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Cholangitis, Leukocytosis, Decreased proportion of class-switched me...	OMIM:619652
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Congestive heart failure,...	ORPHA:31826
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Ataxia, Epistaxis, Cardiac arrest, Tremor, Splenomegal...	ORPHA:99745
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hepatomegaly, Ataxia...	OMIM:214500
Familial Cervical Artery Dissection	Abnormality of connective tissue, Paresthesia, Facial palsy, Paralysis	ORPHA:36382
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Ab...	ORPHA:572
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Anorexia, Thromboc...	ORPHA:824
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Weaver Syndrome	Deep-set nails, Inguinal hernia, Abnormal fingernail morphology, Camptodactyly of finger, Thin na...	ORPHA:3447
Lethal Congenital Contracture Syndrome 9	Thoracic kyphoscoliosis, Elbow extension contracture, Centrally nucleated skeletal muscle fibers,...	OMIM:616503
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Clavicular sclerosis, Micrognathia, Absent frontal sinuses, S...	OMIM:224300
Xfe Progeroid Syndrome	Poor coordination, Hypertension, Hypoalbuminemia, Ascites, Pes cavus	OMIM:610965
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB...	OMIM:232300
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Impulsivity, Tremor, Abnormal pyramidal sign, Neuromuscular dysphag...	ORPHA:240071
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,...	OMIM:171420
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc...	OMIM:619846
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Short neck, Kyphosis, Cryptorchidism, Flexion contracture, Scoliosis, Arthrogryposis multiplex co...	ORPHA:178148
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Incoordination, Ataxia, Elevated circulating creatine kinase...	ORPHA:480864
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Generalized limb muscle atrophy, Myopathy, Scoliosis, Delayed puberty, Distichiasis, An...	ORPHA:2598
Uncombable Hair Syndrome 2	Uncombable hair, Pili canaliculi	OMIM:617251
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy...	ORPHA:240094
4H Leukodystrophy	Ataxia, Tremor, Dysmetria, Dysphagia, Progressive gait ataxia, Dysdiadochokinesis, Abnormality of...	ORPHA:289494
Craniofrontonasal Dysplasia	Camptodactyly of finger, Congenital diaphragmatic hernia, Abnormality of hair texture, Widow's pe...	ORPHA:1520
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Chorea, Lymphopenia, Thrombocytopenia	OMIM:616744
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Congestive heart failure, Leuko...	OMIM:615895
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dysphagia, Dystonia, Spasticity	OMIM:607694
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Ataxia, Polydipsia, Retroperitoneal fibrosis, Cong...	ORPHA:35687
Barth Syndrome	Fair hair, Cyclic neutropenia, Abnormal mitochondrial morphology, Hypochromic microcytic anemia, ...	OMIM:302060
Desmosterolosis	Increased bone mineral density, Talipes, Micromelia, Micrognathia, Metatarsus adductus, Splenomeg...	ORPHA:35107
Spinocerebellar Ataxia, Autosomal Recessive 13	Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis	OMIM:614831
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Diffuse cerebral atrophy, Parkinsonism, Motor neuron atrophy, Frontotemporal cerebral atrophy, Br...	ORPHA:412066
Generalized Epilepsy With Febrile Seizures-Plus	Pes planus, Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Limited k...	ORPHA:36387
Glutathionuria	Tremor, Dysdiadochokinesis, Action tremor	OMIM:231950
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Slurred ...	ORPHA:33543
Glycosylphosphatidylinositol Biosynthesis Defect 15	Osteopenia, Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity	OMIM:617810
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Hyperlordosis, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increase...	OMIM:613157
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Spastic Paraplegia 53, Autosomal Recessive	Impaired vibratory sensation, Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Upper ...	OMIM:614898
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Transient ischemic attack, Myocardial infarction, Tremor, Jaundice, Schistocytos...	OMIM:274150
Schimke Immuno-Osseous Dysplasia	Neutropenia, Decreased proportion of naive CD8 T cells, Ischemic stroke, Hypoplastic pelvis, Lymp...	ORPHA:1830
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, Cra...	OMIM:251230
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Lower limb spasticity, Ataxia, Microvesicular hepatic steatosis, Repetitiv...	ORPHA:66634
Syngap1-Related Developmental And Epileptic Encephalopathy	Ataxia, Abnormal eating behavior, Tremor, Poor coordination, Obsessive-compulsive trait, Recurren...	ORPHA:544254
Muscular Dystrophy, Congenital, Megaconial Type	Facial palsy, Mitochondrial hypertrophy, Myopathy, Muscular dystrophy, Increased endomysial conne...	OMIM:602541
Propionic Acidemia	Hepatomegaly, Hypoglycemia, Hyperammonemia, Cardiomyopathy, Arrhythmia	ORPHA:35
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Recurrent fractures, Elevated circulating creatine kinase concentrati...	ORPHA:2785
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho...	OMIM:301078
Adult-Onset Distal Myopathy Due To Vcp Mutation	Back pain, Scapular winging, Abnormality of the musculature of the lower limbs, Parkinsonism, Dec...	ORPHA:329478
Sting-Associated Vasculopathy, Infantile-Onset	Elevated circulating C-reactive protein concentration, Joint stiffness, Raynaud phenomenon, Folli...	OMIM:615934
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Vocal cord paresis, Lumbar hyperlor...	OMIM:601152
Combined Oxidative Phosphorylation Deficiency 10	Hypoglycemia, Cardiomegaly, Hyperammonemia, Spasticity, Bradycardia, Dystonia, Hyperalaninemia, H...	OMIM:614702
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav...	ORPHA:101016
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,...	OMIM:614916
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hypoglycemia, Hyperammonemia	ORPHA:664
Greig Cephalopolysyndactyly Syndrome	Inguinal hernia, Abnormal muscle fiber morphology, Cryptorchidism, Camptodactyly of toe, Umbilica...	OMIM:175700
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxia,...	ORPHA:101
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hyperactivity, Aggressive behavior, Tremor, Attention deficit hyperactivity disorder, Bruxism, Ab...	OMIM:618342
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Anorexia, Mediastinal lymphadenopathy, Lymphadenopathy,...	ORPHA:139411
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Calf muscle pseudohypertrophy, Lipoatrophy, Splenom...	ORPHA:79083
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction, Aplasia/Hypoplasia of the distal phalang...	OMIM:192445
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Ataxia, Ragged-red muscle fibers, Rhabdomyolysis, Choreoathetosis, Scoliosis, Dystonia, Weakness ...	OMIM:618416
Long Qt Syndrome 3	Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ...	OMIM:603830
Combined Oxidative Phosphorylation Deficiency 40	Hypertrophic cardiomyopathy, Hypoglycemia, Elevated circulating creatine kinase concentration, An...	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42	Cardiomyopathy, Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia	OMIM:618839
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Radioulnar synostosis, Short middle phalanx of the 4th finger, Neutropenia, Ove...	OMIM:616738
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Diabetes mellitus, Angina pectoris, Elevated circulating creatine kinase concentrat...	ORPHA:565612
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly, Flexion contracture, Lymphade...	OMIM:617591
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Developmental And Epileptic Encephalopathy 42	Tremor, Athetosis, Hypertonia, Ataxia	OMIM:617106
Mohr-Tranebjaerg Syndrome	Tremor, Spasticity, Dysphagia, Dystonia	OMIM:304700
Primary Angiitis Of The Central Nervous System	Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis	ORPHA:140989
Degcags Syndrome	Osteopenia, Micrognathia, Oral-pharyngeal dysphagia, Vocal cord paralysis, Leukopenia, Iron defic...	OMIM:619488
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormalit...	ORPHA:79456
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr...	OMIM:612124
Microcephalic Primordial Dwarfism, Montreal Type	Abnormal hair quantity, Severe short stature, Lipoatrophy, Kyphosis, Cryptorchidism, Low posterio...	ORPHA:2617
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia, Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricu...	ORPHA:90647
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Wolfram Syndrome 1	Sideroblastic anemia, Diabetes mellitus, Ataxia, Megaloblastic anemia, Tremor, Limited mobility o...	OMIM:222300
Cockayne Syndrome	Skeletal muscle atrophy, Dry hair, Progressive gait ataxia, Retinal arteriolar constriction, Glio...	ORPHA:191
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Micrognathia, Flexion contracture, Tibial bowing, Hypoplastic iliac wing, Hepatoblastoma, Short t...	ORPHA:96334
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity	ORPHA:1170
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Retinal dystrophy, Optic nerve hypoplasia, Short stature, Slow-growing hair, Sparse...	OMIM:300953
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Tremor, Rigidity, Dysphagia, Bradykinesia, Dystonia	OMIM:168600
Hyperthyroidism, Nonautoimmune	Hyperactivity, Tachycardia, Increased circulating thyroglobulin level	OMIM:609152
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Idiopathic Camptocormia	Amyotrophic lateral sclerosis, Myositis, Abnormal intervertebral disk morphology, Parkinsonism, F...	ORPHA:1320
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric...	OMIM:612158
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame...	OMIM:619461
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Palmoplantar keratoderma, Hypoalbuminemia, Hypernatremia, Pulmonic stenosis	OMIM:615508
Tonne-Kalscheuer Syndrome	Short stature, Congenital diaphragmatic hernia, Concave nail, Tremor, Cryptorchidism, Fine hair, ...	OMIM:300978
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Christianson Syndrome	Truncal ataxia, Dysphagia, Gait ataxia, Inappropriate laughter, Dystonia, Abnormal repetitive man...	ORPHA:85278
Horner Syndrome, Congenital	Congenital Horner syndrome, Paralysis	OMIM:143000
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Retinal telangiectasia, Tremor, Abnormal pyramidal sign, Intestinal bleeding, Ataxia,...	OMIM:612199
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentrat...	ORPHA:264580
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Hepatomegaly, Femur fracture, Splenomegaly, Hypocalcemic sei...	OMIM:612301
Developmental And Epileptic Encephalopathy 64	Paroxysmal dystonia, Chorea, Bruxism, Hemiparesis, Self-injurious behavior, Dystonia, Abnormal re...	OMIM:618004
Acute Intermittent Porphyria	Hyponatremia, Restlessness, Tachycardia, Tremor, Hypertension, Pseudobulbar paralysis, Respirator...	ORPHA:79276
Congenitally Uncorrected Transposition Of The Great Arteries	Hepatomegaly, Tachycardia, Cardiac shunt, Maternal diabetes, Cardiomegaly, Congestive heart failu...	ORPHA:860
Acrokeratoderma, Hereditary Papulotranslucent	Fine hair	OMIM:101840
Mucopolysaccharidosis, Type Ii	Papilledema, Abnormality of retinal pigmentation, Inguinal hernia, Short stature, Severe short st...	OMIM:309900
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Kyphosis, Flexion contractur...	OMIM:618291
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Distal lower limb amyotrophy, Short stature, Tremor, Kyphosis, Cryptorchidism, Gait ataxia, Macro...	OMIM:300354
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Short toe, Lymphadenopathy, Abnormal meta...	ORPHA:39041
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost...	OMIM:259730
X-Linked Intellectual Disability, Cantagrel Type	Abnormal repetitive mannerisms, Tetraparesis	ORPHA:85277
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Perianal abscess, Arthritis, Iron deficien...	OMIM:301074
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Tremor, Hyperkinetic movements, Upper limb spasticity, Abnormal repetitive mannerisms, Self-mutil...	ORPHA:457240
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Thin bony cortex, Short tubular bones of the hand, Mi...	ORPHA:85184
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc...	OMIM:307800
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, H...	ORPHA:137675
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Abnormal fingernail morphology, Supernumerary nipple, Patchy...	ORPHA:1433
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Galactokinase Deficiency	Speech apraxia, Hepatomegaly, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Increased level...	ORPHA:79237
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundi...	OMIM:194380
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Cartilage-Hair Hypoplasia	Joint laxity, Metaphyseal dysplasia, Macrocytic anemia, Impaired lymphocyte transformation with p...	OMIM:250250
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Peripheral axonal neuropathy, Spinal muscular atrophy, Patent ductus arteriosus, Flexion contract...	OMIM:616866
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating...	ORPHA:139507
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Hypoglycemia, Hyperammonemia, Hyperuricemia, Myoclonus, Spasticity, Anemia	OMIM:246450
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Cerebellar atrophy, Diffuse cerebral atrophy, Abnormal mitochondrial shape, Ataxia, Optic atrophy...	ORPHA:543470
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Disproportionate short stature, Abnormal form of...	ORPHA:40
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Inguinal hernia, Small for gestational age, Short stature, Kyphosis, Decreased body weight	OMIM:618392
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Impaired vibratory sensation, Impaired distal proprioception, Ragged-red muscle fibers, Gait atax...	ORPHA:70595
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Incoordination, Ataxia, Inappropriate laughter, Abnormal repetitive mannerisms, St...	OMIM:614104
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Lujo Hemorrhagic Fever	Shock, Resting tremor, Stiff neck, Elevated circulating C-reactive protein concentration, Myocard...	ORPHA:319213
Ivic Syndrome	Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad...	ORPHA:2307
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Spasticity, Hypertonia, Rigidity	OMIM:176500
Malignant Hyperthermia Of Anesthesia	High-output congestive heart failure, Hyperkalemia, Ventricular tachycardia, Premature ventricula...	ORPHA:423
Perry Syndrome	Parkinsonism, Tremor, Rigidity, Bradykinesia, Inappropriate behavior, Disinhibition, Dystonia	OMIM:168605
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Shwachman-Diamond Syndrome	Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Metaphyseal chondrodysplas...	ORPHA:811
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Small for gestational age, Dorsocervical fat pad, Kyphoscoliosis, Short neck, Proportionate short...	ORPHA:391408
Cystathioninuria	Tremor	ORPHA:212
Fibrosis Of Extraocular Muscles, Congenital, 3C	Congenital fibrosis of extraocular muscles, Kyphosis, Highly arched eyebrow	OMIM:609384
Atrial Fibrillation, Familial, 15	Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death	OMIM:615770
Orofaciodigital Syndrome Ix	Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly	OMIM:258865
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop...	OMIM:607060
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Decreased/absent ankle reflexes, Leukopenia, T lymphocytopenia, Neutropen...	ORPHA:443811
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, A...	ORPHA:280365
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:613424
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Tremor, Flexion contracture, Unsteady gait, Slurred speech, Leg muscle stiffness,...	ORPHA:137898
Colchicine Poisoning	Hyponatremia, Congestive heart failure, Myocarditis, Leukocytosis, Hypovolemia, Abnormal blood io...	ORPHA:31824
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Opisthotonus, T lymphocytopenia, Hypertonia, Narrow greater...	ORPHA:508533
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Decreased muscle mass, Inguinal hernia, Lipodystrophy, Short stature, Thick hair, Subretinal pigm...	ORPHA:357074
Maternal Uniparental Disomy Of Chromosome 4	Impaired vibratory sensation, Calf muscle pseudohypertrophy, Neurogenic bladder, Ataxia, Short st...	ORPHA:96180
Developmental And Epileptic Encephalopathy 46	Tremor, Dysphagia, Limb hypertonia	OMIM:617162
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Conjunctival telangiectasia, Elevated circulating creatine kinase concentration, Elevated circula...	OMIM:606002
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Short stature, Hirsutism, Scoliosis	OMIM:300434
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Severe short stature, Thoracolumbar scoliosis, Kyphosis, Knee flexion contractur...	OMIM:313420
Srd5A3-Cdg	Cerebellar atrophy, Optic disc hypoplasia, Ataxia, Microcytic anemia, Abnormal hair morphology, K...	ORPHA:324737
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,...	ORPHA:206443
Mohr-Tranebjaerg Syndrome	Generalized dystonia, Dystonia, Tremor, Babinski sign, Abnormal pyramidal sign, Dysphagia, Focal ...	ORPHA:52368
Schimke Immunoosseous Dysplasia	Osteopenia, Waddling gait, Pancytopenia, Transient ischemic attack, Thrombocytopenia, Neutropenia...	OMIM:242900
Hypokalemic Periodic Paralysis	Paralysis, Abnormal muscle fiber morphology, Respiratory paralysis, Increased intramyocellular li...	ORPHA:681
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Aggressive behavior, 2-3 toe syndactyly, Lymphopenia, Abnormal repetitive mannerisms	ORPHA:391307
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection...	ORPHA:66529
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Cerebral vasculitis, Paralysis, Leukocytosis, Thrombocytopenia	ORPHA:83601
Catecholaminergic Polymorphic Ventricular Tachycardia	Syncope, Ventricular tachycardia, Sudden cardiac death	ORPHA:3286
Nipah Virus Disease	Tremor, Myoclonus, Anorexia	ORPHA:99825
2Q23.1 Microdeletion Syndrome	Hyperactivity, Ataxia, Polyphagia, Self-injurious behavior, Abnormal repetitive mannerisms, Parox...	ORPHA:228402
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Pelizaeus-Merzbacher Disease	Ataxia, Failure to thrive in infancy, Cachexia, Short stature, Kyphosis, Optic atrophy, Choreoath...	ORPHA:702
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,...	OMIM:604169
Werner Syndrome	Increased bone mineral density, Telangiectasia of the skin, Rocker bottom foot, Myocardial infarc...	ORPHA:902
Charcot-Marie-Tooth Disease Type 4C	Decreased motor nerve conduction velocity, Gait ataxia, Abnormal optic nerve morphology, Tongue f...	ORPHA:99949
Zimmermann-Laband Syndrome 2	Thick eyebrow, Short stature, Short neck, Kyphosis, Synophrys, Widow's peak, Macroglossia, Long e...	OMIM:616455
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Spasticity, Abnormal repetitive mannerisms, Involuntary movements, Dysphagia	ORPHA:572013
Porphyria Cutanea Tarda	Decreased circulating hepcidin concentration, Viral hepatitis, Diabetes mellitus, Hepatocellular ...	ORPHA:101330
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased muscle mass, C...	ORPHA:298
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw...	ORPHA:404443
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Inguinal hernia, Ataxia, Cryptorchidism, Fine hair, Sparse hair	ORPHA:1174
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Thick hair, Kyphosis, Synophrys, Low posterior hairline, Truncal obesity, Scoliosis, Spasticity, ...	ORPHA:2429
Perry Syndrome	Tremor, Abnormality of extrapyramidal motor function, Parkinsonism	ORPHA:178509
Late-Onset Isolated Acth Deficiency	Hyponatremia, Normocytic anemia, Orthostatic hypotension, Macrocytic anemia, Hypoglycemia, Hyperc...	ORPHA:199299
Sézary Syndrome	Hepatomegaly, Tremor, Splenomegaly, Lymphadenopathy, Palmoplantar keratoderma, Abnormal lymphocyt...	ORPHA:3162
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Ataxia, Impulsivity, Aggressive behavior, Tongue thrusting, Opisthotonus, Choreoathetosis, Gait a...	OMIM:619580
Polyendocrine-Polyneuropathy Syndrome	Hypoglycemia, Ataxia, Elevated hemoglobin A1c, Dystonia, Type I diabetes mellitus	OMIM:616113
Camurati-Engelmann Disease	Anorexia, Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cort...	ORPHA:1328
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Short stature, Spinal rigidity, Increas...	ORPHA:324604
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste...	OMIM:607634
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis, Micrognathia, Small hand, Short foot, Hyperphosphatemia, Hypocalcemia, Sho...	OMIM:241410
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Anorexia, Conj...	ORPHA:53035
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk...	ORPHA:3243
Lateral Meningocele Syndrome	Vertebral fusion, Decreased muscle mass, Inguinal hernia, Tethered cord, Neurogenic bladder, Shor...	OMIM:130720
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Pulmonary embolism, Hyperlipidemia, Pedal edema, Hypertension, Hypoalbuminemia, Ascites	ORPHA:567546
Congenital Bile Acid Synthesis Defect Type 4	Giant cell hepatitis, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Hematoc...	ORPHA:79095
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Decreased distal sensory nerve action potential, Kyphosc...	ORPHA:99956
Hijazi-Reis Syndrome	Ankle clonus, Lower limb spasticity, Abnormal repetitive mannerisms	OMIM:301094
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Tremor, Thrombocytopenia, Hyperammonemia, Hyp...	OMIM:251100
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Short stature, Fine hair, Macular degeneration, Abnormality of m...	ORPHA:1573
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Idiopathic Chronic Eosinophilic Pneumonia	Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration	ORPHA:2902
Immunodeficiency 44	Lymphopenia	OMIM:616636
Non-Specific Early-Onset Epileptic Encephalopathy	Abnormality of coordination, Ataxia, Involuntary movements, Impulsivity, Tremor, Rigidity, Myoclo...	ORPHA:442835
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Conjugated hyperbilirubinemia, Knee dislocation, Hypoalbuminemia, Hepatic fibrosis, I...	OMIM:619534
Mcdonough Syndrome	Short stature, Cachexia, Kyphosis, Cryptorchidism, Aplasia/Hypoplasia of the abdominal wall muscu...	ORPHA:2471
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Spasticity,...	OMIM:610042
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Cerebellar atrophy, Ataxia, Kyphosis, Synophrys, Scoliosis, Hypertrichosis	ORPHA:85317
Shukla-Vernon Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive...	OMIM:301029
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Paroxysmal dystonia, Abnormal repetitive mannerisms, Involuntary movements, Attention deficit hyp...	ORPHA:98784
Glycogen Storage Disease Ixc	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bile duct proliferation, Fasting ...	OMIM:613027
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha...	OMIM:268305
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Abnormality of the spleen, Cachexia, Abnormal form of the...	ORPHA:93941
Incontinentia Pigmenti	Ridged nail, Hemivertebrae, Coarse hair, Sparse hair, Atrophic, patchy alopecia, Hypoplasia of th...	OMIM:308300
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l...	ORPHA:59135
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Stom...	OMIM:185000
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Fg Syndrome 3	Cryptorchidism, Fine hair, Frontal upsweep of hair, Sparse hair, Joint contracture, Agenesis of c...	OMIM:300406
Xq28 (MECP2) duplication	Abnormal repetitive mannerisms, Dysphagia, Progressive spasticity, Gait ataxia	DECIPHER:45
Sulfite Oxidase Deficiency, Isolated	Generalized dystonia, Ataxia, Cerebral atrophy, Fine hair, Choreoathetosis, Hypertonia, Hemiplegia	OMIM:272300
Borjeson-Forssman-Lehmann Syndrome	Short stature, Kyphosis, Cryptorchidism, Obesity, Scoliosis, Delayed puberty, Scheuermann-like ve...	OMIM:301900
Braddock-Carey Syndrome 1	Curly hair, Hyperlordosis, Spastic diplegia, Growth delay, Camptodactyly, Sparse hair, Enamel hyp...	OMIM:619980
Mucopolysaccharidosis, Type Vii	Anterior beaking of lower thoracic vertebrae, Severe short stature, Short stature, Diastasis rect...	OMIM:253220
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Neurogenic bladder, Partial agenesis of the corpus callosum, Optic atrophy, Vocal cord paralysis,...	ORPHA:500144
Gaisböck Syndrome	Hypertriglyceridemia, Angina pectoris, Diabetes mellitus, Myocardial infarction, Splenomegaly, Hy...	ORPHA:90041
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Prolo...	ORPHA:288
Ogden Syndrome	Congenital hip dislocation, Maternal diabetes, Micrognathia, Cardiomegaly, Microvesicular hepatic...	OMIM:300855
Double Outlet Right Ventricle	Tachycardia, Heart murmur, Hypocalcemia, Pulmonic stenosis, Aplasia/Hypoplasia of the thymus	ORPHA:3426
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Cerebellar atrophy, Brittle hair, Small for gestational age, Failure to thrive in infancy, Short ...	OMIM:618891
Congenital Disorder Of Glycosylation, Type Ij	Micrognathia, Tremor, Aggressive behavior, Jaundice, Flexion contracture, Hypertonia, Clinodactyl...	OMIM:608093
Classic Phenylketonuria	Tremor, Paraplegia, Self-injurious behavior, Hypertonia, Attention deficit hyperactivity disorder...	ORPHA:79254
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ...	OMIM:616300
Genetic Hyperferritinemia Without Iron Overload	Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe...	ORPHA:254704
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis, Congenital muscular dystrophy, Decreased testicular size	ORPHA:1875
Femoral-Facial Syndrome	Short femur, Maternal diabetes, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pel...	ORPHA:1988
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Dysphagia, Bradykinesia, D...	OMIM:615530
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Hyperactivity, Cardiomegaly, Joint stiffness, Splenomegaly, Aggressive behavior, As...	OMIM:252920
Livedoid Vasculopathy	Enlargement of the ankles, Diabetes mellitus, Telangiectasia of the skin, Pancytopenia, Abnormal ...	ORPHA:542643
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Hepatomegaly, Right ventricular failure, Cardiome...	ORPHA:1329
Spinocerebellar Ataxia Type 26	Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi...	ORPHA:101112
Metatropic Dysplasia	Relatively short spine, Peripheral axonal neuropathy, Severe short stature, Kyphoscoliosis, Hypop...	OMIM:156530
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Eosinophilia, Anorexia, Hepatitis, Hepatosplenomegaly, Decreased proportion of CD3-positive T cel...	ORPHA:169160
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox...	OMIM:614302
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Frontal hirsutism, Myoclonus, Type 1 muscle fiber predominance, Increased variability in muscle f...	OMIM:612949
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Elevated circulating creatine kinase concentration, Normochromic an...	OMIM:618775
X-Linked Creatine Transporter Deficiency	Hyperactivity, Ataxia, Abnormal circulating creatine concentration, Chorea, Athetosis, Joint hype...	ORPHA:52503
Amyotrophic Lateral Sclerosis 27, Juvenile	Lower limb spasticity, Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Hype...	OMIM:620285
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, Micrognathia, Spastic t...	OMIM:617237
15Q24 Microdeletion Syndrome	Small for gestational age, Short stature, Congenital diaphragmatic hernia, Postnatal growth retar...	ORPHA:94065
Glycogen Storage Disease Ib	Hepatomegaly, Hypoglycemia, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Hyperlip...	OMIM:232220
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Babinski sign, Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Br...	OMIM:619063
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Portal hypertension, Thrombocytopenia, Type I diabetes mellitus, Lymphopenia, Anemia	OMIM:620365
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysphagia, Dysdiadochokinesis, D...	OMIM:614381
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec...	OMIM:618935
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Spastic Tetraplegia And Axial Hypotonia, Progressive	Lower limb spasticity, Exaggerated startle response, Overlapping toe, Ataxia, Spastic tetraparesi...	OMIM:618598
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Neurodegeneration With Brain Iron Accumulation 1	Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso...	OMIM:234200
Brachyolmia Type 1, Hobaek Type	Back pain, Short neck, Kyphosis, Disproportionate short-trunk short stature, Squared-off platyspo...	OMIM:271530
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,...	OMIM:618920
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Tick-Borne Encephalitis	Speech apraxia, Stiff neck, Incoordination, Elevated circulating C-reactive protein concentration...	ORPHA:297
Neuromuscular Oculoauditory Syndrome	Decreased nerve conduction velocity, Chorioretinal lacunae, Retinal pigment epithelial mottling, ...	OMIM:618733
Shigellosis	Hyponatremia, Hypoglycemia, Abscess, Anorexia, Myocarditis, Leukocytosis, Peritonitis, Abnormal b...	ORPHA:810
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Parkinsonism, Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Apraxia, ...	OMIM:607485
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus...	ORPHA:3320
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Tongue thrusting, Li...	OMIM:608643
X-Linked Cerebral Adrenoleukodystrophy	Lower limb spasticity, Hyperactivity, Ataxia, Spastic tetraparesis, Abnormal circulating fatty-ac...	ORPHA:139396
Pelizaeus-Merzbacher Disease	Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Spastic paraplegia, Abnorm...	OMIM:312080
Cockayne Syndrome A	Dry hair, Abnormal peripheral myelination, Tremor, Sparse hair, Loss of facial adipose tissue, Re...	OMIM:216400
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b...	ORPHA:3261
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Elevated circulating creatine kinase...	OMIM:619424
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Aggressive behavior, Babinski sign, Scissor gait, Spastic tetraplegia, Dysmetria, Attention defic...	OMIM:619121
Spondyloenchondrodysplasia With Immune Dysregulation	Metaphyseal dysplasia, Short iliac bones, Metaphyseal sclerosis, Raynaud phenomenon, Metaphyseal ...	OMIM:607944
Wieacker-Wolff Syndrome, Female-Restricted	Hip contracture, Short stature, Facial palsy, Short neck, Kyphosis, Achilles tendon contracture, ...	OMIM:301041
Diffuse Alveolar Hemorrhage	Leukocytosis, Elevated circulating creatinine concentration, Anemia, Pulmonary venous hypertensio...	ORPHA:90060
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Short humerus, Short metacarpal, Tricuspid regurgitation, Noncompaction cardiomyopathy, Congestiv...	ORPHA:508542
Bethlem Myopathy	Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ...	ORPHA:610
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Increased susceptibility to fractures, Talipes equinovarus, Neutropenia, Lymphopenia, Reduced nat...	OMIM:619752
Cdkl5-Deficiency Disorder	Impaired pain sensation, Kyphosis, Synophrys, Growth delay, Scoliosis	ORPHA:505652
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Pes planus, Hypercalcemia, Micrognathia, Unilateral radial aplasia, Tapered finger, Partial absen...	ORPHA:476126
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph...	ORPHA:331206
Osteopathia Striata-Cranial Sclerosis Syndrome	Increased bone mineral density, Micrognathia, Facial hyperostosis, High iliac wing, Aortic valve ...	ORPHA:2780
Baralle-Macken Syndrome	Kyphosis, Obesity, Dystonia, Global brain atrophy, Spasticity, Hirsutism	OMIM:619255
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ...	OMIM:310440
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Ataxia, Tapered finger, Tremor, Flexion contracture, Babinski sign, Dysmetria, Gait ataxia, Stepp...	OMIM:616505
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Waddling gait, Hepatomegaly, Speech apraxia, Ataxia, Elevated circulating creatine kinase concent...	OMIM:615356
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Palmoplantar keratoderma, Paroxys...	ORPHA:34217
Andersen Cardiodysrhythmic Periodic Paralysis	Micrognathia, Short metatarsal, Prominent U wave, Short palm, Clinodactyly of the 5th finger, Per...	OMIM:170390
2P15P16.1 Microdeletion Syndrome	Lower limb spasticity, Inguinal hernia, Optic nerve hypoplasia, Camptodactyly of finger, Facial p...	ORPHA:261349
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Skeletal muscle atrophy, Ataxia, Facial palsy, Kyphosis, Vocal cord paralysi...	OMIM:211530
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Autosomal Recessive Spastic Paraplegia Type 35	Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Corpus cal...	ORPHA:171629
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Optic disc pallor, Abnormal mitochondrial shape, Decreased nerve conduction v...	ORPHA:485421
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Rett Syndrome	Skeletal muscle atrophy, Dystonia, Short stature, Cachexia, Kyphosis, Gait apraxia, Gait ataxia, ...	OMIM:312750
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Tremor, Congestive heart failure, Splenom...	OMIM:615512
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Tricho-Dento-Osseous Syndrome	Finger clinodactyly, Increased bone mineral density, Periapical tooth abscess	ORPHA:3352
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A...	ORPHA:2378
Pelger-Huet Anomaly	Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil nuclei, Giant platelets, Thr...	OMIM:169400
Non-Functioning Paraganglioma	Hypercalcemia, Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Palpi...	ORPHA:94080
Hemifacial Atrophy, Progressive	Ataxia, Poliosis, Kyphosis, Horner syndrome, Patchy alopecia	OMIM:141300
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Skeletal muscle atrophy, Thoracic scoliosis, Abnormality of skeletal muscle fiber size, Increased...	OMIM:620278
Atypical Werner Syndrome	Sclerosis of hand bone, Micrognathia, Fasting hyperinsulinemia, Reduced bone mineral density, Fin...	ORPHA:79474
Atrial Standstill 1	Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at...	OMIM:108770
Wars2-Related Combined Oxidative Phosphorylation Defect	Ataxia, Aggressive behavior, Tremor, Thrombocytopenia, Positional foot deformity, Spastic tetrapl...	ORPHA:572798
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac...	OMIM:274000
Acute Promyelocytic Leukemia	Pancytopenia, Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukocytosis, L...	ORPHA:520
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatomegaly, Hypoglycemia, Sudden cardiac death, Hemiplegia/hemiparesis, Arrhythmia, Transient h...	ORPHA:156
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Myocardial infarction, Decreased serum iron, Pul...	ORPHA:447
Lamb-Shaffer Syndrome	Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal repetitive mannerisms, Upper motor neur...	ORPHA:530983
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Congenital foot contractures, Distal amyotrophy, Scoliosis, Oculomotor apraxia	ORPHA:3454
Williams Syndrome	Osteopenia, Elevated circulating creatine kinase concentration, Myocardial infarction, Micrognath...	ORPHA:904
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Butyrylcholinesterase Deficiency	Paralysis	ORPHA:132
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Tachycardia, Incoordination, Elevated circulating creatinine concentrati...	OMIM:223900
Trisomy 20P	Short neck, Low anterior hairline, Abnormal form of the vertebral bodies, Vertebral segmentation ...	ORPHA:261318
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia	OMIM:618060
Mirizzi Syndrome	Tachycardia, Anorexia, Pancreatitis, Jaundice, Cholesterol gallstones, Hyperbilirubinemia, Cholel...	ORPHA:521219
Encephalocraniocutaneous Lipomatosis	Alopecia, Lipodystrophy, Paralysis, Rigidity, Abnormal eyelash morphology, Cerebral atrophy, Tetr...	ORPHA:2396
Mucopolysaccharidosis, Type Iiic	Kyphoscoliosis, Splenomegaly, Synophrys, Ovoid thoracolumbar vertebrae, Coarse hair, Hernia, Beak...	OMIM:252930
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Metaphyseal dysplasia, Eosinophilia, Coxa valga, Narrow greater sciatic not...	OMIM:617425
4Q21 Microdeletion Syndrome	Short neck, Tremor, Kyphosis, Synophrys, Growth delay, Long eyelashes, Scoliosis, Intrauterine gr...	ORPHA:238750
Epilepsy, Familial Adult Myoclonic, 2	Tremor, Ataxia, Blepharospasm, Myoclonus	OMIM:607876
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Osteopetrosis, Hepatomegaly	OMIM:618541
Naxos Disease	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Cardiomegaly, Cong...	OMIM:601214
Frontotemporal Dementia	Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Parkinsonism	OMIM:600274
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Impaired glucose tolerance, Elevated circulating creatine kinase concentration, Left bundle branc...	OMIM:610131
Progeroid Syndrome, Petty Type	Reduced subcutaneous adipose tissue, Brittle hair, Lipoatrophy, Short stature, Abnormal hair morp...	ORPHA:2963
Spinocerebellar Ataxia Type 3	Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive c...	ORPHA:98757
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteopenia, Tremor, Osteoporosis, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia,...	ORPHA:529665
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
O'Sullivan-Mcleod Syndrome	Tremor, Eosinophilia, Fasciculations	ORPHA:99965
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ...	OMIM:616005
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures...	OMIM:300554
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi...	OMIM:620292
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Neurogenic bladder, Amyotrophic lateral sclerosis, Ataxia, Parkinsonism, Babinski sign, Cerebral ...	OMIM:615911
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Ogden Syndrome	Torticollis, Inguinal hernia, Postnatal growth retardation, Cryptorchidism, Cerebral atrophy, Fin...	ORPHA:276432
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Short stature, Obesity, Scoliosis	ORPHA:276630
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti...	ORPHA:2686
Pyruvate Carboxylase Deficiency	Anorexia, Tremor, Abnormal pyramidal sign, Compulsive behaviors, Hyperglycemia, Hypoglutaminemia,...	ORPHA:3008
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Rigidity, Kyphosis, Babinski sign, Optic atrophy, Abnormal pyramida...	OMIM:617527
Winchester Syndrome	Kyphosis, Hirsutism	OMIM:277950
Ruvalcaba Syndrome	Inguinal hernia, Retinal dystrophy, Short stature, Kyphosis, Cryptorchidism, Scoliosis, Delayed p...	OMIM:180870
Drug Reaction With Eosinophilia And Systemic Symptoms	Cardiac arrest, Eosinophilia, Myocarditis, Hepatitis, Lymphadenopathy, Lymphocytosis	ORPHA:139402
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Otopalatodigital Syndrome Type 2	Bowing of the long bones, Increased bone mineral density, Tarsal synostosis, Short hallux, Microg...	ORPHA:90652
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Skeletal muscle atrophy, Short stature, Facial palsy, Hyperlordosis, Abnormal muscle fiber morpho...	ORPHA:3068
Amyotrophic Lateral Sclerosis 19	Amyotrophic lateral sclerosis	OMIM:615515
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Neurogenic bladder, Highly arched eyebrow, Type 2 muscle fiber predominance, Increased variabilit...	OMIM:619173
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Tremor, Abnormality of the pancreatic islet cells...	ORPHA:97279
Dystonia-Aphonia Syndrome	Cerebellar atrophy, Abnormal mitochondrial shape, Generalized dystonia, Cerebral atrophy, Macrogl...	ORPHA:412217
Poliomyelitis	Skeletal muscle atrophy, Abnormal motor nerve conduction velocity, Hypoplasia of the musculature,...	ORPHA:2912
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias...	OMIM:611881
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Ataxia, Tremor, Splenomegaly, Decreased serum zinc	OMIM:201100
Osteopetrosis, Autosomal Recessive 6	Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero...	OMIM:611497
Costello Syndrome	Deep-set nails, Failure to thrive in infancy, Abnormal dental enamel morphology, Short stature, S...	ORPHA:3071
Sandhoff Disease	Hepatomegaly, Exaggerated startle response, Orthostatic hypotension, Ataxia, Cardiomegaly, Hepato...	OMIM:268800
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Tremor, Babinski sign, 2-3 toe syndactyly, Spasticity, Glucose intoleran...	OMIM:616539
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Anorexia, Chorea, Knee oste...	ORPHA:1304
Immunodeficiency 23	Hemolytic anemia, Ataxia, Abscess, Eosinophilia, Vasculitis in the skin, Myoclonus, Neutropenia, ...	OMIM:615816
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615637
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Hypoplastic verte...	ORPHA:1782
Amaurosis-Hypertrichosis Syndrome	Cone/cone-rod dystrophy, Retinal dystrophy, Abnormal eyelash morphology, Synophrys, Optic atrophy...	ORPHA:1021
Spastic Paraplegia 9B, Autosomal Recessive	Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Spasticity	OMIM:616586
Tyrosinemia, Type I	Hypertyrosinemia, Gastrointestinal hemorrhage, Hepatomegaly, Hypoglycemia, Elevated circulating a...	OMIM:276700
Immunodeficiency 85 And Autoimmunity	Oligoarthritis, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopen...	OMIM:619510
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Hyperactivity, Rhizomelia, Iliac crest serration, Hypoplasia...	ORPHA:239
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Ataxia, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Leukopenia, Increased ...	OMIM:127550
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic...	ORPHA:198
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg...	OMIM:618150
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Short stature, Camptodactyly of finger, Kyphosis, Coarse hair, Joint contracture of...	ORPHA:1883
Melas	Peripheral axonal neuropathy, Abnormal central motor function, Ataxia, Short stature, Ragged-red ...	ORPHA:550
Arnold-Chiari Malformation Type I	Somatic sensory dysfunction, Abnormality of the musculature of the lower limbs, Dysesthesia, Myel...	ORPHA:268882
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Tongue fasciculations, Fasciculations	OMIM:613435
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Aggressive behavior, Self-injurious behavior, Skin-picking, Abnormal repetitive ma...	OMIM:600430
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite...	OMIM:258315
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Vocal cord paralysis, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Ataxia, Micrognathia, Head titubation, Dysmetria, Knee flexion contracture, Dysphagia, Bilateral ...	OMIM:619708
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor...	OMIM:618825
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Recurrent fractures, Increased circulating ferritin concentration, T...	OMIM:222700
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Appendicular spasticity, Short neck, Partial agenesis of the corpus callosum, Synophrys, Obesity,...	OMIM:620250
Progressive Supranuclear Palsy	Impulsivity, Tremor, Rigidity, Dysphagia, Blepharospasm, Bradykinesia, Dystonia	ORPHA:683
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Poor coordination, Compulsive behaviors, Spasticity, ...	OMIM:618430
Pheochromocytoma	Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,...	OMIM:171300
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Curly hair, Kyphoscoliosis, Sparse eyebrow, Hyposegmentation of neutrophil nuclei, Synophrys, Lat...	OMIM:620075
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Poor coordination, Poor fine motor coordination, Attention de...	OMIM:620242
Cockayne Syndrome B	Dry hair, Abnormal peripheral myelination, Tremor, Sparse hair, Loss of facial adipose tissue, At...	OMIM:133540
Amyotrophic Lateral Sclerosis 23	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis	OMIM:617839
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Niemann-Pick Disease Type C	Bone-marrow foam cells, Fetal ascites, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ...	ORPHA:646
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau...	OMIM:603903
Raine Syndrome	Bowing of the long bones, Increased bone mineral density, Micromelia, Micrognathia, Subperiosteal...	OMIM:259775
Schaaf-Yang Syndrome	Failure to thrive in infancy, Short stature, Kyphosis, Cryptorchidism, Flexion contracture, Obesi...	OMIM:615547
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Paralysis, Tremor, Hyper...	ORPHA:79102
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Lower limb spasticity, Ataxia, Rigidity, Repetitive compulsive behavior, Chorea, Dysphagia, Progr...	OMIM:300260
X-Linked Dominant Chondrodysplasia Punctata	Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Short stature, Sparse eyelashes, K...	ORPHA:35173
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Gm1-Gangliosidosis, Type I	Inguinal hernia, Severe short stature, Short neck, Kyphosis, Cherry red spot of the macula, Vacuo...	OMIM:230500
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrh...	ORPHA:3260
Weaver Syndrome	Deep-set nails, Inguinal hernia, Diastasis recti, Thin nail, Kyphosis, Cryptorchidism, Patent duc...	OMIM:277590
Dysostosis, Stanescu Type	Bowing of the long bones, Increased bone mineral density, Micromelia, Abnormal epiphysis morpholo...	ORPHA:1798
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, Osteopenia, Sandal gap, Short toe, Pulmonic stenosis, Clinodactyly of the 5th f...	OMIM:617877
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Tachycardia, Hypoglycemia	OMIM:229700
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Elevated circulating cre...	ORPHA:230
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Left ventricular hyp...	OMIM:613873
Uruguay Faciocardiomusculoskeletal Syndrome	Left ventricular hypertrophy, Kyphoscoliosis, Kyphosis, Synophrys, Broad nail, Skeletal muscle hy...	OMIM:300280
Seckel Syndrome 1	11 pairs of ribs, Pes planus, Ivory epiphyses, Pancytopenia, Sandal gap, Abnormal finger flexion ...	OMIM:210600
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic ...	OMIM:617925
Sandhoff Disease, Infantile Form	Exaggerated startle response, Hepatosplenomegaly, Mitral regurgitation, Myoclonus, Spasticity	ORPHA:309155
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Flexion contracture, Optic atrophy, Pigmentary retinopathy, Lateral ventricle dilatation, Retinal...	OMIM:613154
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Spasticity, Hepatosplenomegaly, Hypoplastic vertebral bodies, Cardi...	ORPHA:79255
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Curly hair, Short stature, Optic nerve hypoplasia, Sparse eyelashes, Scoliosis, S...	OMIM:615280
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Agi...	OMIM:618056
X-Linked Adrenoleukodystrophy	Somatic sensory dysfunction, Neurogenic bladder, Incoordination, Paralysis, Paraparesis, Progress...	ORPHA:43
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Rigidity, Kyphosis, Optic atrophy, Contractures of the large joints...	ORPHA:521426
Oculopharyngodistal Myopathy 1	Ataxia, Facial palsy, Autophagic vacuoles, Tremor, Weight loss, Distal amyotrophy, Brain atrophy,...	OMIM:164310
Sarcoidosis	Hemolytic anemia, Abnormal cardiac ventricular function, Hepatomegaly, Hypercalcemia, Portal hype...	ORPHA:797
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Cerebellar atrophy, Ataxia, Kyphosis, Synophrys, Scoliosis, Hirsutism	OMIM:300861
Smith-Magenis Syndrome	Hyperactivity, Self hugging, Head-banging, Onychotillomania, Abnormal repetitive mannerisms, Self...	OMIM:182290
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic...	OMIM:617052
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tremor, Metaphyseal chondrodysplasia, Babinski sign, Spastic paraplegia, Reduced bone mineral den...	ORPHA:83629
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:616208
Emanuel Syndrome	Torticollis, Sacral dimple, Inguinal hernia, Congenital diaphragmatic hernia, Kyphosis, Cryptorch...	OMIM:609029
Hurler Syndrome	Inguinal hernia, Short stature, Short neck, Hypoplasia of the odontoid process, Kyphosis, Flexion...	OMIM:607014
Marden-Walker Syndrome	Decreased muscle mass, Inguinal hernia, Short neck, Postnatal growth retardation, Kyphosis, Crypt...	OMIM:248700
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Vocal cord paralysis, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Marshall-Smith Syndrome	Thoracic scoliosis, Brittle hair, Bilateral cryptorchidism, Synophrys, Hypertonia, Thoracic kypho...	OMIM:602535
Sanjad-Sakati Syndrome	Patchy osteosclerosis, Micrognathia, Small hand, Short foot, Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Ataxia, Aggressive behavior, Self-injurious behavior, Hypertonia, Compulsive behaviors, Attention...	OMIM:300986
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Cerebellar atrophy, Kyphosis, Cryptorchidism, Patent ductus arteriosus, Cerebral atrophy, Frontal...	OMIM:619797
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Hyperactivity, Joint stiffness, Splenomegaly, Asymmetric septal hypertrophy, Dense ...	OMIM:252900
Wolf-Hirschhorn Syndrome	Sacral dimple, Tethered cord, Ataxia, Congenital diaphragmatic hernia, Highly arched eyebrow, Kyp...	ORPHA:280
Rett Syndrome, Congenital Variant	Chorea, Tongue thrusting, Bruxism, Athetosis, Dystonia, Spasticity, Apraxia, Abnormal repetitive ...	OMIM:613454
Combined Oxidative Phosphorylation Deficiency 12	Spastic tetraparesis, Dysplastic corpus callosum, Ragged-red muscle fibers, Decreased activity of...	OMIM:614924
Spastic Paraplegia 29, Autosomal Dominant	Lower limb spasticity, Hyperactivity, Clonus, Spastic paraplegia, Babinski sign, Upper limb spast...	OMIM:609727
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han...	ORPHA:56305
Combined Oxidative Phosphorylation Deficiency 19	Increased variability in muscle fiber diameter, Failure to thrive, Mitochondrial swelling	OMIM:615595
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Cerebral palsy, Impulsivity, Aggressive behavior, Self-injurious behavior, Hypertonia, Abnormal r...	OMIM:618914
Dent Disease 1	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures...	OMIM:300009
Leukocyte Adhesion Deficiency, Type I	Leukocytosis, Osteomyelitis, Rectal abscess, Elevated circulating C-reactive protein concentration	OMIM:116920
Liver Disease, Severe Congenital	Micrognathia, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, ...	OMIM:619991
Cutis Laxa, Autosomal Recessive, Type Iia	Inguinal hernia, Brittle hair, Lipodystrophy, Abnormality of hair texture, Coarse hair, Scoliosis...	OMIM:219200
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Speech apraxia, Abnormal repetitive mannerisms	ORPHA:529965
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hyperactivity, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Myoclonus, Inappropria...	ORPHA:98794
Myofibrillar Myopathy 10	Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Left ve...	OMIM:619040
Glycine Encephalopathy With Normal Serum Glycine	Joint laxity, Hip contracture, Exaggerated startle response, Overlapping toe, Genu recurvatum, Cl...	OMIM:617301
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Broad eyebrow, Highly arched eyebrow, Corpus callosum atrophy, Kyphosis, Cryptorchidism, Low ante...	OMIM:619244
Desmosterolosis	Rhizomelia, Micrognathia, Generalized osteosclerosis, Abnormal circulating cholesterol concentrat...	OMIM:602398
Cleidocranial Dysplasia 1	Micrognathia, Absent frontal sinuses, Short middle phalanx of the 2nd finger, Coxa vara, Hypoplas...	OMIM:119600
Fumarase Deficiency	Reduced subcutaneous adipose tissue, Polycythemia, Mitochondrial swelling, Optic atrophy, Cerebra...	OMIM:606812
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macroglossia, Calf muscle...	OMIM:607155
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Atrophic scars, Sc...	OMIM:130060
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Myocardial infarction, Leukocytosis, Schistocytosis, Elevated circ...	ORPHA:90038
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp...	OMIM:609813
Felty Syndrome	Splenomegaly, Rheumatoid arthritis, Neutropenia	OMIM:134750
Renal Nutcracker Syndrome	Orthostatic hypotension, Syncope, Tachycardia, Anemia	ORPHA:71273
Urachal Cyst	Abdominal mass, Abscess, Elevated circulating C-reactive protein concentration, Leukocytosis, Per...	ORPHA:488
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Tricuspid regurgitation, Pancreatic fibrosis, Preaxial hand polydactyly, Postaxial hand polydacty...	OMIM:263520
Endosteal Hyperostosis, Autosomal Dominant	Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ...	OMIM:144750
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Impaired vibratory sensation, Retinal detachment, Peripheral axonal neuropathy, Decreased muscle ...	ORPHA:1900
Acrogeria	Short stature, Lipoatrophy, Scoliosis, Fine hair	ORPHA:2500
Developmental And Speech Delay Due To Sox5 Deficiency	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder...	ORPHA:313892
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Curly hair, Short stature, Highly arched eyebrow, Low posterior hairline, Scoliosis, Camptodactyl...	OMIM:617360
Mucopolysaccharidosis Type 3	Synophrys, Flexion contracture, Abnormal pyramidal sign, Abnormal form of the vertebral bodies, C...	ORPHA:581
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve...	OMIM:609040
Yellow Fever	Shock, Acute pancreatitis, Neutrophilia, Elevated circulating creatine kinase concentration, Supr...	ORPHA:99829
Becker Nevus Syndrome	Lipoatrophy, Supernumerary nipple, Kyphosis, Scoliosis, Spina bifida occulta, Shoulder girdle mus...	ORPHA:64755
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Short stature, Slow-growing hair, Short neck, Abnormal hair morphology, Cryptorchidism, Kyphosis,...	ORPHA:3082
Marbach-Schaaf Neurodevelopmental Syndrome	Speech apraxia, Torticollis, Hemidystonia, Aggressive behavior, Tremor, Attention deficit hyperac...	OMIM:619680
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Clinodactyly of the 5th finger, Increased bone mineral density, Osteopetrosis, Micrognathia	OMIM:617306
Trisomy 13	Abnormal retinal vascular morphology, Kyphosis, Cryptorchidism, Abnormal eyelash morphology, Opti...	ORPHA:3378
Micro Syndrome	Abnormality of retinal pigmentation, Short stature, Kyphosis, Cryptorchidism, Optic atrophy, Gene...	ORPHA:2510
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia...	ORPHA:276
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Abnormal repetitive mannerisms, Myoclonus	ORPHA:411986
Arthrogryposis Multiplex Congenita 6	Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congenita	OMIM:619334
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Spinal rigidity, Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dyst...	OMIM:613150
Late Infantile Neuronal Ceroid Lipofuscinosis	Hyperactivity, Ataxia, Aggressive behavior, Myoclonus, Spasticity, Obsessive-compulsive trait, Ab...	ORPHA:168491
X-Linked Intellectual Disability Due To Gria3 Mutations	Pain insensitivity, Facial hypotonia, Short stature, Kyphosis, Cryptorchidism, Babinski sign, Myo...	ORPHA:364028
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Bilateral vocal cord paresis, Tachycardia, Limited hip extension, Flexion contracture, Retinal he...	OMIM:614653
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Bo...	OMIM:112250
Myasthenic Syndrome, Congenital, 16	Periodic paralysis, Hyperlordosis	OMIM:614198
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Orthostatic hypotension, Salt craving, Hypoglycemia, Hypercalcem...	ORPHA:95409
Lethal Congenital Contracture Syndrome 10	Omphalocele, Torticollis, Thoracic scoliosis, Short neck, Macroglossia, Hypoplasia of the thymus,...	OMIM:617022
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos...	ORPHA:2751
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Small for gestational age, Short stature, Postnatal growth retardation, Fine hair, Long eyelashes...	ORPHA:231137
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Abnormal circulating biopterin concentration, Oculogyric crisis, Maturity-onset d...	ORPHA:1578
Coffin-Lowry Syndrome	Abnormality of retinal pigmentation, Skeletal muscle atrophy, Short stature, Kyphosis, Optic atro...	ORPHA:192
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Spasticity, Dystonia, Abnormal repetitive mannerisms, Gait ataxia	OMIM:617807
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali...	ORPHA:2889
Oculodentodigital Dysplasia	Curly hair, Neurogenic bladder, Brittle hair, Ataxia, Abnormal dental enamel morphology, Camptoda...	ORPHA:2710
Trichothiodystrophy 8, Nonphotosensitive	Head titubation, Sparse eyebrow, Babinski sign, Craniofacial dystonia, Spastic diplegia, Ankle cl...	OMIM:619691
Noonan Syndrome 8	Curly hair, Short stature, Short neck, Large for gestational age, Cryptorchidism, Patent ductus a...	OMIM:615355
Vici Syndrome	Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Micrognathia, C...	OMIM:242840
Smith-Kingsmore Syndrome	Curly hair, Rhizomelia, Diastasis recti, Large for gestational age, Cryptorchidism, Umbilical her...	OMIM:616638
Ritscher-Schinzel Syndrome 4	Curly hair, Ataxia, Short stature, Cryptorchidism, Chorea, Athetosis, Scoliosis, Agenesis of corp...	OMIM:619435
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C...	OMIM:272750
Orthostatic Hypotension 2	Orthostatic hypotension, Hypoglycemia, Anemia	OMIM:618182
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Fair hair, Small for gestational age, Short stature, Abnormality...	OMIM:610443
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho...	ORPHA:480520
Native American Myopathy	Skeletal muscle atrophy, Short stature, Cryptorchidism, Abnormality of skeletal muscle fiber size...	ORPHA:168572
Noonan Syndrome 14	Curly hair, Scapular winging, Short stature, Short neck, Sparse eyebrow, Kyphosis, Cryptorchidism...	OMIM:619745
Addison Disease	Hyponatremia, Normocytic anemia, Orthostatic hypotension, Salt craving, Hypoglycemia, Hypercalcem...	ORPHA:85138
Acromelic Frontonasal Dysostosis	Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta...	OMIM:603671
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Pr...	ORPHA:309246
Cockayne Syndrome Type 1	Hepatomegaly, Lower limb spasticity, Foot joint contracture, Ataxia, Tremor, Hypertension, Gait d...	ORPHA:90321
Blomstrand Lethal Chondrodysplasia	Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral density, Aplastic ...	ORPHA:50945
Dentici-Novelli Neurodevelopmental Syndrome	Hypertonia, Abnormal repetitive mannerisms	OMIM:619877
Hall-Riggs Syndrome	Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Intrauterine growth retardatio...	OMIM:234250
Rett Syndrome	Limb apraxia, Bradykinesia, Agitation, Dystonia, Abnormal repetitive mannerisms, Stereotypical ha...	ORPHA:778
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Glycogen Storage Disease Xv	ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver...	OMIM:613507
Trichothiodystrophy 1, Photosensitive	Brittle hair, Small for gestational age, Short stature, Trichoschisis, Flexion contracture, Absen...	OMIM:601675
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Failure to thrive in infancy, Short...	ORPHA:193
Stiff Person Spectrum Disorder	Exaggerated startle response, Diabetes mellitus, Rigidity, Falls, Difficulty walking	ORPHA:3198
Autosomal Recessive Spondylocostal Dysostosis	Inguinal hernia, Abnormal intervertebral disk morphology, Short stature, Camptodactyly of finger,...	ORPHA:2311
Myasthenic Syndrome, Congenital, 19	Increased variability in muscle fiber diameter, Facial palsy, Spinal rigidity	OMIM:616720
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block	OMIM:615616
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Contracture of the proximal interphalangeal joint of the 2nd finger, Thenar muscle atrophy, Postn...	OMIM:612394
Gitelman Syndrome	Maternal diabetes, Glucose intolerance, Iron deficiency anemia, Hypocalcemia, Prominent U wave, A...	ORPHA:358
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Abnormality of retinal pigmentation, Sparse hair	ORPHA:1264
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hypoglycemic seizures, Hepatic steatosis, Hepatomegaly, Osteoporosis, Increased susce...	ORPHA:79259
Plague	Hepatomegaly, Tachycardia, Anorexia, Hematemesis, Splenomegaly, Lymphadenitis, Unsteady gait, Slu...	ORPHA:707
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Elevated circulating crea...	OMIM:620300
Migraine, Familial Hemiplegic, 2	Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia	OMIM:602481
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia...	OMIM:619573
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Kyphosis,...	ORPHA:2635
Kearns-Sayre Syndrome	Sideroblastic anemia, Ataxia, Short stature, Ragged-red muscle fibers, Pigmentary retinopathy	OMIM:530000
Pmm2-Cdg	Osteopenia, Pes planus, Joint laxity, Multiple joint contractures, Ataxia, Angina pectoris, Peric...	ORPHA:79318
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Hyperlysinemia	Neck hypertonia, Hyperactivity, Poor motor coordination, Craniosynostosis, Spastic tetraparesis, ...	ORPHA:2203
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response, Multiple joint contractures, Abnormality of extrapyramidal motor fu...	ORPHA:320406
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint mo...	ORPHA:32960
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ...	ORPHA:99103
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ...	OMIM:616201
Macrocephaly/Autism Syndrome	Joint laxity, Speech apraxia, Hepatomegaly, Splenomegaly, Lymphopenia	OMIM:605309
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Tremor, Hyperhomocystinemia, Cys...	OMIM:277400
Intellectual Developmental Disorder, X-Linked 98	Lower limb spasticity, Hyperactivity, Ataxia, Aggressive behavior, Bulimia, Self-biting, Stereoty...	OMIM:300912
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Fucosidosis	Decreased muscle mass, Lipoatrophy, Kyphosis, Abnormal pyramidal sign, Spastic tetraplegia, Anter...	ORPHA:349
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval	OMIM:220400
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Alopecia, Aplastic anemia, Ataxia, Short stature, Cryptorchidism, Fine hair, Growth...	OMIM:613990
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Increased bone mineral density, Raynaud phenomenon, Arterial occlusion, Atrioventr...	OMIM:259900
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Reynolds Syndrome	Calcinosis, Gastrointestinal hemorrhage, Hepatomegaly, Raynaud phenomenon, Splenomegaly, Jaundice...	OMIM:613471
Young-Onset Parkinson Disease	Restless legs, Impulsivity, Tremor, Rigidity, Bradykinesia, Agitation, Dystonia, Spasticity	ORPHA:2828
Spinocerebellar Ataxia-Dysmorphism Syndrome	Coarse hair, Spina bifida occulta, Optic atrophy, Short stature	ORPHA:1185
Hyperkalemic Periodic Paralysis	Skeletal muscle atrophy, Periodic hyperkalemic paralysis, Cerebral palsy, Flexion contracture, Sk...	ORPHA:682
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Syndromic Diarrhea	Aortic regurgitation, Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of ...	ORPHA:84064
Porphyria, Acute Intermittent	Tachycardia, Paralysis, Hypertension, Respiratory paralysis, Hepatocellular carcinoma	OMIM:176000
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormality of the pancreas, Reduced bone mineral density, Long fibula, Abnormal metaphysis morph...	ORPHA:935
Leukodystrophy, Hypomyelinating, 13	Lower limb spasticity, Exaggerated startle response, Ataxia, Clonus, Spasticity, Hypertonia, Join...	OMIM:616881
48,Xxyy Syndrome	Tremor, Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder	ORPHA:10
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Abnormal metacarpal morphol...	ORPHA:2658
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy...	ORPHA:906
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin...	OMIM:102700
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Abnormal repetitive mannerisms, Ataxia, Head tremor	OMIM:619428
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cerebellar atrophy, Failure to thrive, Brittle hair, Ataxia, Ragged-red muscle fibers, Rhabdomyol...	OMIM:124000
Hypodontia-Dysplasia Of Nails Syndrome	Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,...	ORPHA:2228
Mucolipidosis Ii Alpha/Beta	Brittle hair, Sparse hair, Thoracolumbar kyphoscoliosis, Sparse eyebrow, Hypoplasia of the odonto...	OMIM:252500
Mucopolysaccharidosis, Type Iiid	Cerebellar atrophy, Thoracic scoliosis, Pilonidal sinus, Inguinal hernia, Short stature, Thick ey...	OMIM:252940
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scapular winging, Pain insensitivity, Thick eyebrow, Tremor, Kyphosis, Synophrys, Patent ductus a...	OMIM:617061
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia, ...	ORPHA:77293
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Short stature, Short neck, Postnatal growth retardation, Hyposegmentation of neutrophil nuclei, O...	OMIM:614800
Spondyloepiphyseal Dysplasia Congenita	Back pain, Retinal detachment, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, S...	ORPHA:94068
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Microretrognathia, Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Neonatal h...	OMIM:619418
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C...	OMIM:115200
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce...	ORPHA:53693
Distal Duplication 6P	Abnormal hair quantity, Sacral dimple, Short stature, Short neck, Abnormal eyelash morphology, Fi...	ORPHA:1745
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Lymphopenia, Neutropenia	OMIM:614868
Alazami Syndrome	Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh...	ORPHA:319671
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Congestive heart failure, T...	ORPHA:391487
Ck Syndrome	Kyphosis, Slender build, Scoliosis, Hyperlordosis	OMIM:300831
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Abnormal repetitive mannerisms, Agitation, Ataxia, Paraplegia	ORPHA:927
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Cryptorchidism	OMIM:618512
Alpha-Mannosidosis	Inguinal hernia, Short neck, Splenomegaly, Kyphosis, Macroglossia, Scoliosis	ORPHA:61
Hypomelanosis Of Ito	Kyphosis, Alopecia, Scoliosis, Cerebral atrophy	OMIM:300337
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Increased variability in muscle fiber diameter, Retinal dystrophy, Muscular dystrophy	OMIM:616538
X-Linked Intellectual Disability, Cabezas Type	Broad-based gait, Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Hy...	ORPHA:85293
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis, Abnormal optic nerve morphology, Hypopigmentation of the fundus	ORPHA:77300
Alexander Disease	Ataxia, Facial palsy, Clonus, Short neck, Hyperlordosis, Kyphosis, Chorea, Tremor, Abnormal pyram...	ORPHA:58
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Pediatric Systemic Lupus Erythematosus	Raynaud phenomenon, Lymphadenopathy, Arthritis, Leukopenia, Ascites, Microangiopathic hemolytic a...	ORPHA:93552
Hypokalemic Periodic Paralysis, Type 2	Myopathy, Periodic paralysis	OMIM:613345
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Inverted Duplicated Chromosome 15 Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Self-biting	ORPHA:3306
Pilarowski-Bjornsson Syndrome	Speech apraxia, Abnormal repetitive mannerisms	OMIM:617682
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Weight loss, Macroglossia, Gene...	ORPHA:2221
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils, Micrognathia	ORPHA:2268
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Adult-Onset Autosomal Dominant Leukodystrophy	Ataxia, Clonus, Upper limb postural tremor, Action tremor, Tremor, Head titubation, Babinski sign...	ORPHA:99027
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Trichothiodystrophy 3, Photosensitive	Hypertonia, Abdominal adhesions, Lymphopenia, Neutropenia	OMIM:616395
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair, Short stature, Ankle flexion contracture	OMIM:619985
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Aggressive behavior, Self-injurious behavior, Abnormal temper tantrums, Attention ...	ORPHA:449291
Coffin-Siris Syndrome 6	Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder	OMIM:617808
3C Syndrome	Inguinal hernia, Short stature, Short neck, Postnatal growth retardation, Kyphosis, Optic atrophy...	ORPHA:7
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Incr...	OMIM:232800
Angioma Serpiginosum, X-Linked	Sparse hair, Nail dystrophy, Fine hair	OMIM:300652
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Zttk Syndrome	Curly hair, Short stature, Sparse eyebrow, Dysplastic corpus callosum, Kyphosis, Flexion contract...	OMIM:617140
Hallermann-Streiff Syndrome	Sparse scalp hair, Small for gestational age, Sparse eyelashes, Spina bifida, Hyperlordosis, Prop...	OMIM:234100
3-Methylglutaconic Aciduria, Type Viii	Dystonia, Clonus, Tremor, Jaundice, Dysphagia, Hypertonia, Bradycardia, Neutropenia, Neonatal hyp...	OMIM:617248
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c...	OMIM:619767
Hawkinsinuria	Sparse hair, Failure to thrive, Fine hair	ORPHA:2118
Argininemia	Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Hyperammonemia, Cholestasis, Progr...	OMIM:207800
Spondyloepiphyseal Dysplasia Congenita	Retinal detachment, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the o...	OMIM:183900
Heart Defects-Limb Shortening Syndrome	Kyphosis, Disproportionate short stature, Abnormal form of the vertebral bodies, Mesomelic/rhizom...	ORPHA:1354
Crisponi Syndrome	Camptodactyly of finger, Kyphosis, Flexion contracture, Hypertonia, Scoliosis	ORPHA:1545
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Acute pancreatitis, Hepatitis, Melena, Leukopenia, Dysphagia, Lympho...	ORPHA:319218
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Peripheral axonal neuropathy, Curly hair, Short stature, Slow-growing hair, Short...	OMIM:115150
Clouston Syndrome	Alopecia, Brittle hair, Short stature, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Spa...	OMIM:129500
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Cockayne Syndrome Type 2	Lower limb spasticity, Ataxia, Scarring, Kyphosis, Cryptorchidism, Flexion contracture, Scoliosis...	ORPHA:90322
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ...	ORPHA:119
Craniofrontonasal Syndrome	Ridged nail, Split nail, Curly hair, Unilateral breast hypoplasia, Short stature, Congenital diap...	OMIM:304110
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair	OMIM:278200
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Conjugated hyperbilirubinemia, Early ossification of capital femoral epiphyses, Hepatic fibrosis,...	OMIM:208500
Glycogen Storage Disease Ic	Hepatomegaly, Hypoglycemia, Cyclic neutropenia, Spider hemangioma, Chronic pancreatitis, Hyperlip...	OMIM:232240
Arthrogryposis, Distal, Type 4	Torticollis, Kyphosis, Low anterior hairline, Low posterior hairline, Camptodactyly of 2nd-5th fi...	OMIM:609128
Neurodegeneration With Brain Iron Accumulation 2B	Hyperactivity, Impulsivity, Chorea, Babinski sign, Dysmetria, Gait ataxia, Talipes calcaneovalgus...	OMIM:610217
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Dilated cardiomyopathy, Palmoplantar keratoderma, Ventricular tachycardia, Syncope	OMIM:615821
Intellectual Developmental Disorder, Autosomal Recessive 71	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618504
Myasthenic Syndrome, Congenital, 20, Presynaptic	Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Arthrogryposis multiplex congenita	OMIM:617143
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Intrauterine growth retardation, Optic nerve hypoplasia, Lower limb spasticity, Fine hair	ORPHA:363686
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Clonus, Flexion contracture, Myoclonus, Spasticity	OMIM:618201
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Inguinal hernia, Short stature, Megaloblastic anemia, Abnormality of hair texture, Spastic tetrap...	ORPHA:79351
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Curly hair, Short stature, Curly eyelashes, Short neck, Cryptorchidism, Multiple rows of eyelashe...	ORPHA:163654
Steinert Myotonic Dystrophy	Prolonged QRS complex, Oral-pharyngeal dysphagia, Supraventricular tachycardia, Insulin resistanc...	ORPHA:273
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Cardiofaciocutaneous Syndrome	Brittle hair, Failure to thrive in infancy, Short stature, Slow-growing hair, Short neck, Abnorma...	ORPHA:1340
Chops Syndrome	Curly hair, Short stature, Thick hair, Splenomegaly, Cryptorchidism, Synophrys, Optic atrophy, Ob...	OMIM:616368
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Alopecia, Decreased adipose tissue around neck, Bri...	OMIM:608612
Trichorhinophalangeal Syndrome, Type I	Scapular winging, Short stature, Thin nail, Slow-growing hair, Hyperlordosis, Concave nail, Leuko...	OMIM:190350
Hall-Riggs Syndrome	Short stature, Abnormal dental enamel morphology, Thick hair, Slow-growing hair, Platyspondyly, C...	ORPHA:2107
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Alternating Hemiplegia Of Childhood	Anorexia, Oral-pharyngeal dysphagia, Tremor, Chorea, Abnormal pyramidal sign, Choreoathetosis, Ab...	ORPHA:2131
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Short stature, Kyphosis, Elbow flexion contracture, Optic atrophy, Obesity, Scol...	OMIM:618493
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Elevated circulating creatine kinase concentration, Flexion contrac...	OMIM:253800
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response, Inability to walk, Chorea, Spastic tetraplegia, Spasticity, Hyperto...	OMIM:617864
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Keloid...	ORPHA:2890
Childhood Disintegrative Disorder	Abnormal repetitive mannerisms	ORPHA:168782
Cerebral Creatine Deficiency Syndrome 1	Speech apraxia, Aggressive behavior, Hypertonia, Poor hand-eye coordination, Dystonia, Attention ...	OMIM:300352
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Cerebellar atrophy, Ataxia, Thoracolumbar scoliosis, Short stature, Hyperlordosis, Kyphosis, Syno...	OMIM:618443
Acute Radiation Syndrome	Telangiectasia, Granulocytopenia, Hypotension, Lymphopenia, Thrombocytopenia	ORPHA:454831
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Hyperpepsinogenemia I, Cardiomyopathy, B...	OMIM:615745
Carvajal Syndrome	Woolly hair	ORPHA:65282
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Distal 16P11.2 Microdeletion Syndrome	Aganglionic megacolon, Retinal dystrophy, Kyphosis, Low anterior hairline, Obesity, Rod-cone dyst...	ORPHA:261222
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis	ORPHA:1522
Trichohepatoenteric Syndrome 2	Brittle hair, Small for gestational age, Woolly hair, Uncombable hair, Sparse hair, Intrauterine ...	OMIM:614602
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Hyperlordosis, Kyphosis, Synophrys, Low anterior hairline, Scoliosis	OMIM:615761
Potocki-Lupski Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia	OMIM:610883
Radio-Tartaglia Syndrome	Ataxia, Impulsivity, Aggressive behavior, Tremor, Attention deficit hyperactivity disorder, Dysph...	OMIM:619312
Mitochondrial Complex I Deficiency, Nuclear Type 1	Cerebellar atrophy, Optic disc pallor, Skeletal muscle atrophy, Ataxia, Optic neuropathy, Splenom...	OMIM:252010
Intellectual Developmental Disorder, Autosomal Dominant 38	Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ...	OMIM:616393
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Hyperkinetic moveme...	ORPHA:522077
2Q32Q33 Microdeletion Syndrome	Short stature, Fine hair, Growth delay, Sparse hair, Decreased testicular size	ORPHA:251019
Pontocerebellar Hypoplasia, Type 17	Paroxysmal dystonia, Kyphosis, Patent ductus arteriosus, Low anterior hairline, Spastic tetrapleg...	OMIM:619909
Immunodeficiency 31C	Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anem...	OMIM:614162
Noonan Syndrome 6	Juvenile myelomonocytic leukemia, Curly hair, Short stature, Long eyebrows, Short neck, Cryptorch...	OMIM:613224
Microphthalmia With Limb Anomalies	Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, Postaxial hand ...	OMIM:206920
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Thick eyebrow, Short stature, Splenomegaly, Optic atrophy, C...	ORPHA:585
Opitz-Kaveggia Syndrome	Sacral dimple, Multiple joint contractures, Lumbar hyperlordosis, Inguinal hernia, Short stature,...	OMIM:305450
Listeriosis	Stiff neck, Liver abscess, Tremor, Abnormal cellular immune system morphology, Granulomatosis, Ch...	ORPHA:533
Angioedema, Hereditary, 1	Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration	OMIM:106100
Hurler-Scheie Syndrome	Inguinal hernia, Short stature, Camptodactyly of finger, Thenar muscle atrophy, Contracture of th...	OMIM:607015
Urban-Rogers-Meyer Syndrome	Short stature, Camptodactyly of finger, Short neck, Kyphosis, Cryptorchidism, Obesity, Flexion co...	ORPHA:3409
Mitochondrial Dna-Associated Leigh Syndrome	Ataxia, Segmental peripheral demyelination/remyelination, Rod-cone dystrophy, Chorea, Ragged-red ...	ORPHA:255210
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Postnatal growth retardation, Sparse scalp hair, Fine hair	ORPHA:2324
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Short stature, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dy...	ORPHA:1882
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
16Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Highly arched eyebrow, Abnormal hair pattern, Kyphosis, Cryptorchidism, C...	ORPHA:261250
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Congenital muscular torticollis, Vertebral fusion, Vaginal hernia, Short stature, Abnormal dental...	ORPHA:2916
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Joint laxity, Exaggerated startle response, Broad-based gait, Involuntary movements, ...	ORPHA:438213
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
5Q14.3 Microdeletion Syndrome	Abnormal repetitive mannerisms	ORPHA:228384
Cri-Du-Chat Syndrome	Hyperactivity, Aggressive behavior, Hypertonia, Abnormal repetitive mannerisms, Self-mutilation, ...	OMIM:123450
Shashi-Pena Syndrome	Highly arched eyebrow, Kyphosis, Synophrys, Patent ductus arteriosus, Hypertrichosis, Limb hypert...	OMIM:617190
Kleefstra Syndrome 2	Growth delay, Kyphosis, Thick eyebrow, Scoliosis	OMIM:617768
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu...	OMIM:115000
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis, Agenesis of corpus callosum, Decreased testicular size, Cryptorchidism	OMIM:615433
Hyper-Igd Syndrome	Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy, Art...	OMIM:260920
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac...	ORPHA:216694
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Diabetes mellitus, Hypoglycemia, Hypouricemia, Rickets, Glycosuria, Hypophosphatemia	OMIM:616026
Bruck Syndrome 1	Hip contracture, Short stature, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, V...	OMIM:259450
19P13.12 Microdeletion Syndrome	Short neck, Kyphosis, Cryptorchidism, Synophrys, Obesity, Scoliosis, Arthrogryposis multiplex con...	ORPHA:254346
Acute Generalized Exanthematous Pustulosis	Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia	ORPHA:293173
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Abnormal repetitive mannerisms	OMIM:613443
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Limb muscle weakness	OMIM:619133
Stickler Syndrome, Type I	Retinal detachment, Kyphosis, Platyspondyly, Vitreoretinopathy, Membranous vitreous appearance, R...	OMIM:108300
Cerebrofaciothoracic Dysplasia	Short stature, Abnormal hair pattern, Short neck, Synophrys, Hemivertebrae, Low posterior hairlin...	ORPHA:1394
Frank-Ter Haar Syndrome	Inguinal hernia, Camptodactyly of finger, Kyphosis, Scoliosis, Umbilical hernia, Beaking of verte...	ORPHA:137834
Proximal 16P11.2 Microdeletion Syndrome	Speech apraxia, Choreoathetosis, Attention deficit hyperactivity disorder, Dystonia, Abnormal rep...	ORPHA:261197
Orofaciodigital Syndrome Type 3	Abnormality of hair texture, Thoracic kyphosis, Myoclonus, Oculomotor apraxia, Cherry red spot of...	ORPHA:2752
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Severe short stature, Incre...	ORPHA:93314
Cardiofaciocutaneous Syndrome 3	Curly hair, Short stature, Short neck, Scoliosis, Failure to thrive	OMIM:615279
Koolen-De Vries Syndrome	Vertebral fusion, Hypopigmentation of hair, Short stature, Abnormal dental enamel morphology, Abn...	ORPHA:96169
Glutaryl-Coa Dehydrogenase Deficiency	Limb dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Subdural hemorrhage, Re...	ORPHA:25
2Q31.1 Microdeletion Syndrome	Inguinal hernia, Short stature, Camptodactyly of finger, Short neck, Hypoplastic toenails, Kyphos...	ORPHA:251014
Pycnodysostosis	Increased bone mineral density, Aplastic clavicle, Micrognathia, Absent frontal sinuses, Osteolyt...	OMIM:265800
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Gait ataxia, Spasticity, Abnormal repetitive mannerisms, Self-mutilation	OMIM:300486
Distal Triplication 15Q	Large for gestational age, Kyphosis, Patent ductus arteriosus, Flexion contracture, Hydrocele tes...	ORPHA:314588
Childhood Absence Epilepsy	Limb myoclonus, Punding, Attention deficit hyperactivity disorder	ORPHA:64280
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Short stature, Impaired temperature sensation, Kyphosis, Cryptorchidism...	ORPHA:398069
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Neutrophilia, Overlapping toe, Ataxia, Microcytic anemia, Leukocytosis, Impaired ta...	ORPHA:99843
Hypokalemic Periodic Paralysis, Type 1	Myopathy, Periodic paralysis	OMIM:170400
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Congenital muscular torticollis, Inguinal hernia, Severe short stature, ...	ORPHA:2215
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Noonan Syndrome 5	Curly hair, Short stature, Short neck, Sparse eyebrow, Cryptorchidism, Large for gestational age,...	OMIM:611553
Dpagt1-Cdg	Prolonged QT interval, Hepatomegaly, Arachnodactyly, Ataxia, Akinesia, Aggressive behavior, Tremo...	ORPHA:86309
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Kyphosis, Cryptorchidism, Scoliosis,...	OMIM:615381
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Cardiofaciocutaneous Syndrome 2	Curly hair, Peripheral axonal neuropathy, Absent eyebrow, Fine hair, Sparse hair	OMIM:615278
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Brain abscess, Diabetes mellitus, Myocarditis, Leukocytosis, Thro...	ORPHA:544482
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Wide distal femoral metaphysis, Postaxial hand polydactyly, Apla...	OMIM:269150
Trichohepatoneurodevelopmental Syndrome	Curly hair, Splenomegaly, Synophrys, Patent ductus arteriosus, Cerebral atrophy, Macroglossia, Co...	OMIM:618268
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of retinal pigmentation, Skeletal muscle atrophy, Short stature, Cachexia, Kyphosis, ...	ORPHA:1969
Khan-Khan-Katsanis Syndrome	Tricuspid regurgitation, Postaxial polydactyly, Micrognathia, Dysphagia, Joint contracture, Hyper...	OMIM:618460
Vulto-Van Silfhout-De Vries Syndrome	Sacral dimple, Pain insensitivity, Widow's peak, Fine hair, Horizontal eyebrow	OMIM:615828
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Asparagine Synthetase Deficiency	Exaggerated startle response, Clonus, Micrognathia, Tremor, Spastic tetraplegia, Large hands, Hyp...	OMIM:615574
Joubert Syndrome With Hepatic Defect	Hepatomegaly, Ataxia, Portal hypertension, Tremor, Splenomegaly, Postaxial hand polydactyly, Cong...	ORPHA:1454
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Sparse body hair, Abnormal testis morphology, Pili torti, Apla...	ORPHA:202
Coffin-Siris Syndrome 7	Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors	OMIM:618027
Trichothiodystrophy 6, Nonphotosensitive	Brittle hair, Small for gestational age, Short stature, Slow-growing hair, Mild intrauterine grow...	OMIM:616943
Aicardi-Goutières Syndrome	Multiple joint contractures, Cardiomegaly, Tremor, Abnormal pyramidal sign, Hypertonia, Extrapyra...	ORPHA:51
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia, Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Palpi...	ORPHA:276621
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Tremor, D...	OMIM:610505
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Skeletal muscle atrophy, Limb muscle weakness, Hemolytic anemia, Paralysis	OMIM:612300
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Short stature, Hyperlordosis, Short neck, Kyphosis, Spinal cord compression, Fused cervical verte...	ORPHA:2522
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric...	OMIM:225060
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Microretrognathia, Ataxia, Tremor, Hyperammonemia, Hypertension, Arrhythmia, Hyperalaninemia, Hyp...	OMIM:614052
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Curly hair, Short stature, Optic nerve hypoplasia, Highly arched eyebrow, Short neck, Slow-growin...	OMIM:617506
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair...	ORPHA:90368
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Cerebellar atrophy, Sacral dimple, Ataxia, Short neck, Postnatal growth retardation, Kyphosis, Tr...	OMIM:300966
Microphthalmia, Lenz Type	Short stature, Camptodactyly of finger, Hyperlordosis, Kyphosis, Cryptorchidism, Optic disc colob...	ORPHA:568
Primary Hyperoxaluria	Hyperoxaluria, Recurrent fractures, Heart block, Raynaud phenomenon, Generalized osteosclerosis, ...	ORPHA:416
Cutis Laxa, Autosomal Recessive, Type Iiib	Inguinal hernia, Cryptorchidism, Flexion contracture, Elbow flexion contracture, Fine hair, Athet...	OMIM:614438
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ...	OMIM:119800
Intellectual Developmental Disorder, Autosomal Dominant 34	Abnormal repetitive mannerisms, Bruxism	OMIM:616351
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Peripheral axonal neuropathy, Brittle hair, Sparse eyebrow, Dysplastic corpus callosum, Hydrocele...	OMIM:618810
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Overfriendliness, Incoordination, Abnormal repetitive mannerisms, Gait ataxia	OMIM:616579
Snijders Blok-Campeau Syndrome	Speech apraxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618205
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair	OMIM:129490
Congenital Disorder Of Glycosylation, Type Il	Cerebellar atrophy, Short neck, Kyphosis, Hepatosplenomegaly, Failure to thrive, Global brain atr...	OMIM:608776
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Postnatal growth retardation, Kyphosis, Cryptorchidism, Reduced alpha/beta synthe...	OMIM:301040
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Retinal detachment, Optic disc pallor, Flexion contracture of finger, Small for gestational age, ...	ORPHA:464311
Joubert Syndrome 6	Oculomotor apraxia, Abnormal repetitive mannerisms, Ataxia	OMIM:610688
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Brittle hair, Ataxia, Splenomegaly, Schistocytosis, Cerebral atrophy, Hypoc...	OMIM:616084
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Pancytopenia, Cachexia, Paralysis, Abnormality of the spleen, Thrombocytopenia, Sple...	ORPHA:2072
Legius Syndrome	Hyperactivity, Acute monocytic leukemia, Paroxysmal atrial tachycardia, Diaphyseal dysplasia, Pol...	ORPHA:137605
Hennekam Syndrome	Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Abnormal foot morphology, Splenomeg...	ORPHA:2136
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity	OMIM:618527
Foxg1 Syndrome Due To 14Q12 Microdeletion	Kyphosis, Growth delay, Macroglossia, Scoliosis, Agenesis of corpus callosum	ORPHA:261144
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Ataxia, Tetraplegia, Dysphagia, Fasciculations, Progressive spasticity, Dystonia, Cataplexy, Spas...	ORPHA:496641
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Short neck, Low anterior hairline, Ataxia, Short stature, Hyperlordosis, Scoliosis, Sparse latera...	OMIM:619950
Noonan Syndrome 7	Curly hair, Short stature, Short neck, Large for gestational age, Low posterior hairline, Growth ...	OMIM:613706
Den Hoed-De Boer-Voisin Syndrome	Lower limb spasticity, Ataxia, Tremor, Upper limb spasticity, Myoclonus, Agitation, Dysphagia, Sp...	OMIM:619229
Basel-Vanagaite-Smirin-Yosef Syndrome	Inguinal hernia, Kyphosis, Cerebral atrophy, Scoliosis, Sparse hair, Spasticity, Agenesis of corp...	OMIM:616449
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Speech apraxia, Sacral dimple, Fair hair, Small for gestational age, Slender...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Speech apraxia, Sacral dimple, Fair hair, Small for gestational age, Slender...	ORPHA:363958
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Developmental And Epileptic Encephalopathy 66	Abnormal repetitive mannerisms	OMIM:618067
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Genitopatellar Syndrome	Hip contracture, Sparse scalp hair, Short stature, Cryptorchidism, Knee flexion contracture, Fine...	ORPHA:85201
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Inguinal hernia, Highly arched eyebrow, Large for gestational age, Cerebral atrophy, Gait ataxia,...	OMIM:280000
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Isotretinoin-Like Syndrome	Aortic valve stenosis, Lymphopenia, Hypocalcemia, Micrognathia	ORPHA:2306
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla...	OMIM:227270
Macrocephaly-Developmental Delay Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:397612
Rift Valley Fever	Back pain, Retinitis, Paralysis, Thrombocytopenia, Paraparesis, Retinal hemorrhage, Macular edema...	ORPHA:319251
Trichodental Dysplasia	Brittle hair, Odontodysplasia, Slow-growing hair, Fine hair, Sparse hair	OMIM:601453
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Lower limb spasticity, Hyperactivity, Clonus, Hair-pulling, Hypertonia, Myoclonic spasms, Dysphag...	ORPHA:447997
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Inguinal hernia, Brittle hair, Kyphoscoliosis, Scoliosis, Biconcave vertebral bodies, Failure to ...	OMIM:236200
Mucolipidosis Type Ii	Hip contracture, Inguinal hernia, Dry hair, Short stature, Diastasis recti, Postnatal growth reta...	ORPHA:576
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ...	OMIM:612347
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Cryptorchidism, Fine hair, Intrauterine growth retardation, Agenesis of corpus callosum	ORPHA:228390
Mucopolysaccharidosis, Type Iva	Inguinal hernia, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid pr...	OMIM:253000
Houge-Janssens Syndrome 3	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618354
Postencephalitic Parkinsonism	Resting tremor, Camptocormia, Involuntary movements, Oculogyric crisis, Rigidity, Kyphosis, Babin...	ORPHA:97349
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair, Short stature, Intrauterine growth retardation, Failure to thrive	ORPHA:50812
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Short stature, Congenital diaphragmatic hernia, Kyphosis, Cryptorc...	OMIM:617602
Cowden Syndrome 5	Kyphosis, Angioid streaks of the fundus, Hydrocele testis, Scoliosis, Subcutaneous lipoma, Intent...	OMIM:615108
19Q13.11 Microdeletion Syndrome	Cachexia, Supernumerary nipple, Cryptorchidism, Fine hair, Growth delay, Sparse or absent eyelash...	ORPHA:217346
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Severe short stature, Foot joint contracture, Infancy onset short-trunk short st...	ORPHA:444072
Mucopolysaccharidosis Type 6	Ovoid vertebral bodies, Short neck, Kyphosis, Splenomegaly, Disproportionate short-trunk short st...	ORPHA:583
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Short stature, Short neck, Kyphosis, Obesity, Scoliosis	ORPHA:3191
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Decreased mobilit...	OMIM:164900
Niemann-Pick Disease, Type C2	Ataxia, Dysphagia, Dystonia, Cataplexy, Spasticity, Abnormal repetitive mannerisms	OMIM:607625
Hydrolethalus Syndrome 1	Accessory spleen, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicatio...	OMIM:236680
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Vasculitis, Lymphadenopathy, Abnorma...	ORPHA:1572
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Abnormal testis morphology, Scoliosis	ORPHA:1548
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Scapular winging, Lipoatrophy, Kyphosis, Absence of subcutan...	OMIM:616914
Alstrom Syndrome	Cone/cone-rod dystrophy, Alopecia, Short stature, Kyphosis, Truncal obesity, Pigmentary retinopat...	OMIM:203800
3M Syndrome	Scapular winging, Short stature, Abnormal dental enamel morphology, Hyperlordosis, Short neck, In...	ORPHA:2616
Charge Syndrome	Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short thumb, Self-mu...	OMIM:214800
Menkes Disease	Alopecia, Brittle hair, Short stature, Babinski sign, Hypertonia, Sparse hair, Intrauterine growt...	OMIM:309400
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia	OMIM:617827
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	11 pairs of ribs, Accessory spleen, Severe B lymphocytopenia, Craniosynostosis, Tapered finger, M...	OMIM:620005
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ...	OMIM:613426
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Fusariosis	Brain abscess, Osteomyelitis, Lung abscess, Abnormality of the spleen, Peritonitis, Arthritis, Ab...	ORPHA:228119
Focal Dermal Hypoplasia	Ridged nail, Brittle hair, Congenital diaphragmatic hernia, Absent fingernail, Chorioretinal colo...	OMIM:305600
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Intellectual Developmental Disorder, Autosomal Dominant 52	Abnormal repetitive mannerisms, Hyperactivity, Obsessive-compulsive trait, Pica	OMIM:617796
Mucopolysaccharidosis, Type Ivb	Inguinal hernia, Ataxia, Ovoid vertebral bodies, Hyperlordosis, Grayish enamel, Hypoplasia of the...	OMIM:253010
Rhizomelic Syndrome, Urbach Type	Abnormal hair quantity, Rhizomelia, Short stature, Short neck, Kyphosis, Abnormal form of the ver...	ORPHA:3098
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Cryptorchidism, Curly hair, Diastasis recti, Large for gestational age	ORPHA:457485
Dyrk1A-Related Intellectual Disability Syndrome	Optic disc pallor, Multiple joint contractures, Small for gestational age, Short stature, Kyphosi...	ORPHA:464306
Prader-Willi Syndrome	Decreased muscle mass, Hypopigmentation of hair, Failure to thrive in infancy, Short stature, Imp...	OMIM:176270
Creatine Phosphokinase, Elevated Serum	Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa...	OMIM:123320
Neurofibromatosis Type 1	Abnormal hair quantity, Abnormality of retinal pigmentation, Astrocytoma, Ataxia, Short stature, ...	ORPHA:636
Noonan Syndrome 4	Curly hair, Short stature, Short neck, Large for gestational age, Cryptorchidism, Sparse eyebrow,...	OMIM:610733
Chromosome 5P13 Duplication Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive behaviors	OMIM:613174
Myhre Syndrome	Vertebral fusion, Small for gestational age, Ataxia, Short stature, Short neck, Cryptorchidism, P...	OMIM:139210
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Small for gestational age, Short stature, Kyphoscoliosis, Kyphosis, Elbow flexion contracture, Ab...	ORPHA:93360
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Palmoplantar hyperkera...	OMIM:605676
Intellectual Developmental Disorder, Autosomal Dominant 48	Hyperactivity, Abnormal repetitive mannerisms	OMIM:617751
Hyperekplexia 3	Hypertonia, Exaggerated startle response, Syncope, Myoclonus	OMIM:614618
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Sacral dimple, Inguinal hernia, Large for gestational age, Kyphosis, Umbilical hernia	OMIM:618272
Cowden Syndrome 6	Kyphosis, Angioid streaks of the fundus, Hydrocele testis, Scoliosis, Subcutaneous lipoma, Intent...	OMIM:615109
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Fetal Hydantoin Syndrome	Short stature, Cryptorchidism, Low posterior hairline, Coarse hair, Hernia, Intrauterine growth r...	ORPHA:1912
Basel-Vanagaite-Smirin-Yosef Syndrome	Sparse scalp hair, Inguinal hernia, Sparse eyebrow, Kyphosis, Cerebral atrophy, Lateral ventricle...	ORPHA:464738
Ruvalcaba Syndrome	Inguinal hernia, Kyphosis, Cryptorchidism, Scoliosis, Delayed puberty, Abnormal vertebral epiphys...	ORPHA:3121
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cardiomegaly, Congestive heart fa...	ORPHA:980
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Cowden Syndrome 1	Kyphosis, Angioid streaks of the fundus, Hydrocele testis, Scoliosis, Lymphopenia, Subcutaneous l...	OMIM:158350
Hajdu-Cheney Syndrome	Inguinal hernia, Short stature, Abnormal fingernail morphology, Short neck, Hypoplastic 5th lumba...	ORPHA:955
Bruck Syndrome	Short stature, Kyphosis, Platyspondyly, Scoliosis, Arthrogryposis multiplex congenita	ORPHA:2771
Thanatophoric Dysplasia	Abnormal sacroiliac joint morphology, Kyphosis, Patent ductus arteriosus, Platyspondyly, Dispropo...	ORPHA:2655
Omodysplasia 2	Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Limited elbow flexion...	OMIM:164745
Leopard Syndrome 3	Curly hair, Short stature, Short neck, Low posterior hairline, Growth delay	OMIM:613707
Cardiac Diverticulum	Abnormal EKG, Mitral stenosis, Angina pectoris, Aplasia/Hypoplasia of the sternum, Tricuspid sten...	ORPHA:1686
Revesz Syndrome	Aplastic anemia, Ataxia, Nail pits, Fine hair, Exudative retinopathy, Hypertonia, Nail dystrophy,...	OMIM:268130
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Babinski sign, Hypertonia, Inappropriate laughter, Spasticity, Abnormal repetitive mannerisms	OMIM:615802
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p...	OMIM:600802
Coffin-Siris Syndrome 1	Dry hair, Congenital diaphragmatic hernia, Partial agenesis of the corpus callosum, Gait ataxia, ...	OMIM:135900
Oculodentodigital Dysplasia	Neurogenic bladder, Dry hair, Ataxia, Slow-growing hair, Paraparesis, Spasticity, Fine hair, Join...	OMIM:164200
Bazex-Dupré-Christol Syndrome	Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor...	ORPHA:113
Blepharophimosis-Impaired Intellectual Development Syndrome	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Overfriendliness	OMIM:619293
Lateral Meningocele Syndrome	Inguinal hernia, Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Abnormal form of the verteb...	ORPHA:2789
Fountain Syndrome	Short stature, Spina bifida, Kyphosis, Synophrys, Abnormal form of the vertebral bodies, Scoliosi...	ORPHA:3219
Cystinosis	Abnormal repetitive mannerisms, Polydipsia, Abnormal pyramidal sign	ORPHA:213
Fibrochondrogenesis 1	Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia...	OMIM:228520
1P36 Deletion Syndrome	Abnormal eyebrow morphology, Short stature, Camptodactyly of finger, Kyphosis, Abnormality of the...	ORPHA:1606
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Limb joint contracture, Tremor, Fasciculations, Limb hypertonia	OMIM:620327
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Hyperactivity, Facial-lingual fasciculations, Spastic tetraplegia, ...	OMIM:617281
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Severe short stature, Abnormal dental enamel morphology, Kyphosis, Moderate postnatal g...	ORPHA:1005
Developmental Malformations-Deafness-Dystonia Syndrome	Generalized dystonia, Short stature, Kyphosis, Macroglossia, Scoliosis	ORPHA:79107
Multiple Pterygium Syndrome, Escobar Variant	Inguinal hernia, Multiple joint contractures, Short stature, Thoracolumbar scoliosis, Congenital ...	OMIM:265000
Pseudohypoaldosteronism Type 2	Growth delay, Short stature, Abnormal dental enamel morphology, Periodic paralysis	ORPHA:757
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl...	ORPHA:958
Osteogenesis Imperfecta, Type Ix	Kyphosis, Platyspondyly, Disproportionate short-limb short stature, Scoliosis, Dentinogenesis imp...	OMIM:259440
Desbuquois Dysplasia 1	Severe short stature, Hyperlordosis, Short neck, Kyphosis, Obesity, Growth delay, Platyspondyly, ...	OMIM:251450
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Kyphosis, Short stature, Scoliosis	ORPHA:1858
Polymyositis	Abnormal muscle fiber morphology, Chondrocalcinosis, Weight loss	ORPHA:732
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hyperconvex fingernails, Subcortical cerebral atrophy, Sparse hair, Abnormal vertebral morphology...	ORPHA:2273
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven...	OMIM:300952
Cranioectodermal Dysplasia 1	Hepatic fibrosis, Hypocalcemia, Joint laxity, Hepatomegaly, Rhizomelia, Sagittal craniosynostosis...	OMIM:218330
Intellectual Disability, Buenos-Aires Type	Short stature, Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair, Umbilical hern...	ORPHA:3079
Acrofacial Dysostosis, Catania Type	Inguinal hernia, Short stature, Abnormal hair pattern, Cryptorchidism, Coarse hair, Intrauterine ...	ORPHA:1786
Uncombable Hair Syndrome 3	Uncombable hair, Curly hair, Brittle hair, Pili canaliculi	OMIM:617252
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Thoracic scoliosis, Kyphosis, Knee flexion contracture	OMIM:603387
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response, Bradycardia, Tongue fasciculations	OMIM:608800
22Q11.2 Duplication Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors	ORPHA:1727
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Frequent temper tantrums, Attention deficit hyperactivity disorder, Abnormal repetitive mannerism...	OMIM:619103
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Thin nail, Paralysis, Abnormal hair morphology, Growth delay, Small nail	OMIM:242100
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hemiplegia, Kyphosis, Umbilical hernia, Scoliosis	ORPHA:2181
Odontotrichoungual-Digital-Palmar Syndrome	Nail dystrophy, Nail dysplasia, Abnormality of hair texture	OMIM:601957
Whim Syndrome	Lymphadenitis, Abnormal neutrophil morphology, Limb ataxia, Poor fine motor coordination, Neutrop...	ORPHA:51636
Paramyotonia Congenita Of Von Eulenburg	Facial muscle hypertrophy, EMG: myopathic abnormalities, Periodic hypokalemic paresis	ORPHA:684
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Torticollis, Spastic tetraplegia, Spastic diplegia, Dystonia, Oculomotor apraxia,...	ORPHA:300570
Galloway-Mowat Syndrome 9	Cerebellar atrophy, Hiatus hernia, Choreoathetosis, Coarse hair, Cerebral cortical atrophy	OMIM:619603
Chromosome 15Q11.2 Deletion Syndrome	Ataxia, Clumsiness, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal repe...	OMIM:615656
Rapp-Hodgkin Syndrome	Short stature, Sparse eyelashes, Supernumerary nipple, Slow-growing hair, Sparse eyebrow, Fine ha...	OMIM:129400
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Clonus, Synophrys, Abnormal curvature of the vertebral column, Hypertonia, Chorioretin...	OMIM:619475
African Trypanosomiasis	Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Alopecia, Involuntary ...	ORPHA:3385
Marden-Walker Syndrome	Skeletal muscle atrophy, Severe short stature, Camptodactyly of finger, Kyphosis, Abnormal form o...	ORPHA:2461
Leopard Syndrome 2	Curly hair, Short stature, Short neck	OMIM:611554
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Dry hair, Brittle hair, Short stature, Spastic diplegia, Growth delay, Macroglossia, Nail dystrop...	ORPHA:93947
Tsh-Secreting Pituitary Adenoma	Osteopenia, Supraventricular arrhythmia, Tremor, Congestive heart failure, Osteoporosis, Hyperten...	ORPHA:91347
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Self-injurious behavior, Limb dystonia, Spasticity, Abnormal repetitive mannerisms, Limb hypertonia	ORPHA:457351
Normokalemic Periodic Paralysis	Periodic paralysis	OMIM:170600
Craniolenticulosutural Dysplasia	Brittle hair, Short stature, Cryptorchidism, Posterior wedging of vertebral bodies, Optic atrophy...	OMIM:607812
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Hyperekplexia 1	Exaggerated startle response, Hip dislocation, Hypertonia, Myoclonus, Frequent falls	OMIM:149400
Mucolipidosis Iii Gamma	Short stature, Hyperlordosis, Short neck, Kyphosis, Scoliosis	OMIM:252605
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Nicolaides-Baraitser Syndrome	Absent eyebrow, Inguinal hernia, Dry hair, Short stature, Sparse scalp hair, Sparse medial eyebro...	OMIM:601358
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dry hair, Dysplastic corpus callosum, Low anterior hairline, Intrinsic hand muscle atrophy, Spast...	OMIM:618569
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Cardiomegaly, Abnormal heart valve physiology, Hypoplasia of t...	ORPHA:3384
Campomelic Dysplasia	11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ...	ORPHA:140
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp...	ORPHA:35078
Nmda Receptor Encephalitis	Involuntary movements, Oculogyric crisis, Rigidity, Hypersexuality, Chorea, Opisthotonus, Choreoa...	ORPHA:217253
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair	OMIM:234030
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Small hypothenar eminence, Lumbar hyperlordosis, Sparse facial hair,...	ORPHA:2232
Long Qt Syndrome 12	Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes	OMIM:612955
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Abnormal repetitive mannerisms, Dysphagia	OMIM:617802
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Inguinal hernia, Abnormal dental enamel morphology, Supernumerary nipple, Cryptorchidism, Fine ha...	ORPHA:1812
Transketolase Deficiency	Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms...	ORPHA:488618
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti	OMIM:607903
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Short stature, Coarse hair, Nail dystrophy, Intrauterine growth retardation	ORPHA:75389
Cushing Disease	Diabetes mellitus, Impaired glucose tolerance, Myocardial infarction, Fatiguable weakness of prox...	ORPHA:96253
Dubowitz Syndrome	Sparse scalp hair, Sacral dimple, Short stature, Abnormal fingernail morphology, Abnormality of n...	ORPHA:235
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Lower limb spasticity, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Cryptorchi...	ORPHA:251028
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Abnormal optic chiasm morphology, Retinal detachment, Sacral dimple, Small for gestational age, A...	ORPHA:268261
Classic Homocystinuria	Retinal detachment, Abnormality of retinal pigmentation, Sparse scalp hair, Kyphosis, Hemiplegia/...	ORPHA:394
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Glossopharyngeal Neuralgia	Dysesthesia, Cranial nerve compression, Schwannoma, Vocal cord paralysis, Weight loss, Abnormal g...	ORPHA:221098
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Poor fine motor coordination, Sick sinus syndrome, Bradycardia, Prolon...	ORPHA:542306
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Exaggerated startle response	OMIM:620114
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp...	OMIM:602400
Difference Of Sex Development-Intellectual Disability Syndrome	Abnormal hair pattern, Short neck, Kyphosis, Synophrys, Low posterior hairline, Spina bifida occulta	ORPHA:2983
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Abnormal repetitive mannerisms	ORPHA:500159
45,X/46,Xy Mixed Gonadal Dysgenesis	Hallux valgus, Prolonged QT interval, Tachycardia, Micrognathia, Short metatarsal, Short 4th meta...	ORPHA:1772
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Short stature, Overweight, Kyphosis, Cryptorchidism, Flexion contracture, Scoliosis, Failure to t...	ORPHA:500055
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Kyphosis, Cryptorchidism, Scoliosis, Intrauterine growth retarda...	ORPHA:2075
Menkes Disease	Inguinal hernia, Hypopigmentation of hair, Woolly hair, Chorea, Aplasia/Hypoplasia of the abdomin...	ORPHA:565
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Slender build, Scoliosis	OMIM:300676
Clark-Baraitser syndrome	Macroorchidism, Kyphosis, Obesity, Scoliosis	OMIM:300602
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Pancytopenia, Autoimmune hemolytic anemia, Short stature, ...	ORPHA:1855
Pyomyositis	Recurrent cutaneous abscess formation, Leukocytosis, Sudden cardiac death	ORPHA:764
Glioblastoma	Glioblastoma multiforme, Paralysis	ORPHA:360
Multiple Endocrine Neoplasia, Type Iib	Aganglionic megacolon, Failure to thrive in infancy, Hyperlordosis, Kyphosis, Myopathy, Pheochrom...	OMIM:162300
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Speech apraxia, Ataxia, Kyphoscoliosis, Tremor, Dysplastic corpus callosum, Kyphosis, Cryptorchid...	OMIM:300967
Thanatophoric Dysplasia Type 2	Patent ductus arteriosus, Kyphosis, Platyspondyly, Short stature	ORPHA:93274
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Ataxia, Broad-based gait, Dystonia	ORPHA:438216
Noonan Syndrome 2	Curly hair, Short stature, Short neck, Sparse eyebrow, Cryptorchidism, Patent ductus arteriosus, ...	OMIM:605275
Hip Dysplasia, Beukes Type	Kyphosis, Scoliosis	ORPHA:2114
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy, Kyphosis, Obesity, Abdominal obesity, Biconcave vertebral bodies, Verteb...	OMIM:219090
3P25.3 Microdeletion Syndrome	Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder	ORPHA:435638
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Leukocytosis, Flexion contracture, Genu valgum, Azotemia, Hepatic steatosis	OMIM:619321
Smith-Lemli-Opitz Syndrome	Hypopigmentation of hair, Aganglionic megacolon, Abnormal dental enamel morphology, Congenital di...	ORPHA:818
Dyggve-Melchior-Clausen Disease	Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Hypoplasia of the odontoid proces...	OMIM:223800
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Congenital Disorder Of Glycosylation, Type Iia	Aggressive behavior, Hypertonia, Abnormal repetitive mannerisms, Self-mutilation, Stereotypical h...	OMIM:212066
Harrod Syndrome	Kyphosis, Cryptorchidism, Scoliosis, Intrauterine growth retardation, Failure to thrive, Cerebral...	ORPHA:2115
Monosomy 9Q22.3	Rhabdomyosarcoma, Short neck, Large for gestational age, Kyphosis, Abnormality of the vertebral c...	ORPHA:77301
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia	OMIM:146500
Pseudoachondroplasia	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Disproportiona...	OMIM:177170
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Supernumerary nipple, Short neck, Kyphosis, Cryptorchidism, Elbow flexion contra...	OMIM:619194
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Camptodactyly of finger, Highly arched eyebrow, Supernumerary nipple, Kyphosis, Cryptorchidism, S...	OMIM:619951
Netherton Syndrome	Sparse scalp hair, Brittle hair, Brittle scalp hair, Sparse eyebrow, Hypereosinophilia, Failure t...	OMIM:256500
Cardiac-Urogenital Syndrome	Accessory spleen, Tachycardia, Hepatopulmonary fusion, 2-3 toe syndactyly, Tracheomalacia, Enlarg...	OMIM:618280
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair	OMIM:616099
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Disproportio...	OMIM:313400
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response, Hypertonia	ORPHA:163985
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Short neck, Partial agenesis of the corpus callosum, Flexion contracture, Knee flexion contractur...	OMIM:210710
Kanzaki Disease	Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy, Distal sensory impairment	OMIM:609242
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Marfan Syndrome	Retinal detachment, Skeletal muscle atrophy, Inguinal hernia, Cachexia, Kyphosis, Dural ectasia, ...	ORPHA:558
Fontaine Progeroid Syndrome	Hypoplasia of the abdominal wall musculature, Synophrys, Low anterior hairline, Coarse hair, Shor...	OMIM:612289
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor...	OMIM:114290
Smith-Magenis Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:819
Poland Syndrome	Congenital diaphragmatic hernia, Short neck, Retinal hamartoma, Kyphosis, Cryptorchidism, Aplasia...	ORPHA:2911
Stickler Syndrome	Retinal detachment, Skeletal muscle atrophy, Short stature, Abnormal dental enamel morphology, Ca...	ORPHA:828
Weismann-Netter Syndrome	Kyphosis, Horizontal sacrum, Severe short stature, Scoliosis	OMIM:112350
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Distal Deletion 12Q	Failure to thrive in infancy, Unilateral cryptorchidism, Kyphoscoliosis, Impaired pain sensation,...	ORPHA:96149
Bazex-Dupre-Christol Syndrome	Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa	OMIM:301845
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Patent ductus arteriosus, Disproportionate short stature, Fine hair, Truncal obesity, Aplasia/Hyp...	ORPHA:2637
Mitochondrial Complex I Deficiency, Nuclear Type 29	Decreased activity of mitochondrial complex I, Failure to thrive, Mitochondrial swelling	OMIM:618250
Hyperekplexia 2	Exaggerated startle response, Hypertonia, Myoclonus	OMIM:614619
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Brittle hair, Postnatal growth retardation, Scoliosis, Intrauterine growth retardation, Enamel hy...	OMIM:619184
Ectodermal Dysplasia 13, Hair/Tooth Type	Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow	OMIM:617392
Peeling Skin Syndrome 1	Brittle hair, Short stature, Eosinophilia, Onycholysis, Nail dystrophy	OMIM:270300
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird...	ORPHA:1788
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620073
Wolf-Hirschhorn Syndrome	Accessory spleen, Vertebral fusion, Decreased muscle mass, Sacral dimple, Small for gestational a...	OMIM:194190
Brachyolmia Type 3	Short neck, Spinal cord compression, Kyphosis, Childhood-onset short-trunk short stature, Platysp...	OMIM:113500
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis, Global brain atrophy	OMIM:619132
17Q11 Microdeletion Syndrome	Multiple mucosal neuromas, Pheochromocytoma, Abnormal central motor function, Short stature, Glom...	ORPHA:97685
Olmsted Syndrome 2	Sparse hair, Woolly hair, Alopecia universalis, Flexion contracture of digit	OMIM:619208
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Abnormal repetitive mannerisms, Ataxia, Abnormal temper tantrums, Aggressive behavior	ORPHA:457279
Cono-Spondylar Dysplasia	Short nail, Short neck, Kyphosis, Partial agenesis of the corpus callosum, Poor coordination, Sco...	ORPHA:420794
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:115310
Monosomy 22Q13.3	Sacral dimple, Impaired pain sensation, Hypoplastic toenails, Hair-pulling, Obesity, Long eyelash...	ORPHA:48652
Netherton Syndrome	Sparse scalp hair, Sparse eyelashes, Short stature, Sparse eyebrow, Abnormal hair morphology, Fin...	ORPHA:634
White-Sutton Syndrome	Hyperactivity, Aggressive behavior, Self-injurious behavior, Tics, Abnormal repetitive mannerisms...	OMIM:616364
Noonan Syndrome 9	Curly hair, Short stature, Short neck, Sparse eyebrow, Cryptorchidism	OMIM:616559
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h...	OMIM:200980
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, Retinal hemorrhage, Angioid streaks of the fundus, Macular degeneration, Scoliosis	OMIM:177850
Achondroplasia	Lumbar hyperlordosis, Rhizomelia, Kyphosis, Disproportionate short stature, Spinal canal stenosis...	ORPHA:15
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Tremor, ...	ORPHA:29072
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair	OMIM:104100
Intellectual Developmental Disorder, Autosomal Dominant 54	Cerebellar atrophy, Lower limb spasticity, Ataxia, Short stature, Small for gestational age, Thin...	OMIM:617799
Brachycephaly, Trichomegaly, And Developmental Delay	Brittle hair, Short stature, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow	OMIM:617412
Hereditary Sensory And Autonomic Neuropathy Type 4	Nail-biting, Hyperactivity, Osteomyelitis, Abscess, Impulsivity, Self-mutilation, Dysphagia, Pain...	ORPHA:642
Oculocerebrorenal Syndrome Of Lowe	Sparse scalp hair, Inguinal hernia, Short stature, Chorioretinal dysplasia, Abnormal dental ename...	ORPHA:534
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response, Hypertonia	OMIM:300607
Developmental And Epileptic Encephalopathy 2	Abnormal repetitive mannerisms, Myoclonus	OMIM:300672
Ventricular Fibrillation, Paroxysmal Familial, 2	Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction	OMIM:612956
Primary Sjögren Syndrome	Normocytic anemia, Chronic active hepatitis, Raynaud phenomenon, Chorea, Vasculitis, Biliary cirr...	ORPHA:289390
Noonan Syndrome 10	Curly hair, Short stature, Short neck, Sparse eyebrow, Cryptorchidism, Patent ductus arteriosus, ...	OMIM:616564
Gorlin-Chaudhry-Moss Syndrome	Short stature, Patent ductus arteriosus, Low anterior hairline, Coarse hair, Umbilical hernia, Ge...	ORPHA:2095
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Kyphosis, Patent ductus arteriosus, L...	ORPHA:79329
Mucopolysaccharidosis Type 4	Short stature, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Grayish en...	ORPHA:582
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Acromelic Frontonasal Dysplasia	Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia	ORPHA:1827
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Diffuse cerebral atrophy, Severe B lymphocytopenia, Inguinal hernia, Postnatal growth retardation...	ORPHA:83617
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Abnormal dental enamel morphology, Fine hair	ORPHA:3236
Kleefstra Syndrome 1	Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior	OMIM:610253
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Heart block, Premature ventricular contraction, Micrognathia	ORPHA:1964
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
White-Sutton Syndrome	Hyperactivity, Incoordination, Aggressive behavior, Self-injurious behavior, Compulsive behaviors...	ORPHA:468678
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Moderate postnatal growth retardation, Knee flexion contracture, Coarse hair, Sc...	OMIM:118650
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Curly hair, Lumbar hyperlordosis, Failure to thrive in infancy, Optic nerve hypoplasia, Kyphoscol...	ORPHA:500150
Rauch-Steindl Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:619695
Trichothiodystrophy 7, Nonphotosensitive	Tiger tail banding, Brittle hair	OMIM:618546
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Aplasia of the thymus, Short stature, Short neck, Kyphosis, Patent ductus arteriosus, Hemivertebr...	OMIM:618223
Toxin-Mediated Infectious Botulism	Cerebral palsy, Diaphragmatic paralysis, Paralysis	ORPHA:230800
Kinsship Syndrome	Osteopenia, Pes planus, Spastic tetraparesis, Micrognathia, Coxa valga, Hip dislocation, Bruxism,...	OMIM:619297
Atelis Syndrome 2	Sacral dimple, Remnants of the hyaloid vascular system, Kyphosis, Thrombocytopenia, Patent ductus...	OMIM:620185
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Mitochondrial Phosphate Carrier Deficiency	Abnormal mitochondrial shape	OMIM:610773
Trichothiodystrophy 2, Photosensitive	Coarse hair, Tiger tail banding, Short stature	OMIM:616390
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Rhizomelia, Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Thoracic platyspondyl...	OMIM:618019
Tibial Hemimelia	Absent tibia	OMIM:275220
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Highly arched eyebrow, Kyphosis, Cryptorchidism, Low anterior hairline, Scoliosis	ORPHA:404440
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Synophrys, Flexion contracture, Knee flexion contracture, Diaphragmatic eventration, Thoracic hyp...	OMIM:619503
Costello Syndrome	Deep-set nails, Curly hair, Short stature, Thin nail, Rhabdomyosarcoma, Short neck, Concave nail,...	OMIM:218040
Megalocornea-Intellectual Disability Syndrome	Abnormal repetitive mannerisms, Ataxia	ORPHA:2479
X-Linked Intellectual Disability, Snyder Type	Decreased muscle mass, Short stature, Involuntary movements, Kyphoscoliosis, Sparse eyebrow, Cryp...	ORPHA:3063
Acth-Independent Macronodular Adrenal Hyperplasia	Truncal obesity, Kyphosis, Skeletal muscle atrophy	OMIM:219080
Phelan-Mcdermid Syndrome	Tongue thrusting, Abnormal repetitive mannerisms, Aggressive behavior, Bruxism	OMIM:606232
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Proteus Syndrome	Abnormality of retinal pigmentation, Decreased muscle mass, Thymus hyperplasia, Macroorchidism, A...	ORPHA:744
Osteogenesis Imperfecta, Type Iii	Kyphosis, Disproportionate short-limb short stature, Scoliosis, Biconcave vertebral bodies, Neona...	OMIM:259420
Amelo-Onycho-Hypohidrotic Syndrome	Abnormal fingernail morphology, Abnormal dental enamel morphology, Hypoplastic toenails, Fine hai...	ORPHA:1028
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Inguinal hernia, Sparse scalp hair, Short stature, Short neck, Large for gestational ...	OMIM:607721
Osteogenesis Imperfecta	Cervical kyphosis, Flexion contracture, Abnormal form of the vertebral bodies, Ataxia, Abnormal d...	ORPHA:666
2Q37 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors	ORPHA:1001
Cole-Carpenter Syndrome 2	Short stature, Postnatal growth retardation, Kyphosis, Platyspondyly, Dentinogenesis imperfecta	OMIM:616294
Hereditary Mucoepithelial Dysplasia	Sparse hair, Alopecia, Fine hair	ORPHA:1839
Ramon Syndrome	Optic disc pallor, Short stature, Kyphosis, Pigmentary retinopathy, Scoliosis, Decreased body wei...	OMIM:266270
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ataxia, Hypoglycemia, Micrognathia, Tremor, Microvesicular hepatic steatosis, Increased hepatocel...	OMIM:220111
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Cardiomegaly,...	OMIM:620066
Bainbridge-Ropers Syndrome	Recurrent hand flapping, Self-injurious behavior, Hypertonia, Abnormal repetitive mannerisms	OMIM:615485
Robinow Syndrome, Autosomal Dominant 3	Omphalocele, Sacral dimple, Short stature, Short neck, Kyphosis, Cryptorchidism, Patent ductus ar...	OMIM:616894
Schinzel-Giedion Syndrome	Sacrococcygeal teratoma, Inguinal hernia, Aganglionic megacolon, Failure to thrive in infancy, Ky...	ORPHA:798
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia, Short stature, Highly arched eyebrow, Short neck, Postnatal gro...	OMIM:613563
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Large for gestational age, Sparse eyebrow...	ORPHA:457359
Diamond-Blackfan Anemia 21	Short stature, Erythroid hypoplasia, Synophrys, Widow's peak, Obesity, Anemia, Coarse hair, Horiz...	OMIM:620072
Intellectual Developmental Disorder, Autosomal Dominant 57	Short stature, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Sco...	OMIM:618050
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Curly hair, Short stature, Abnormal fingernail morphology, Highly arched eyebrow, Thick hair, Hyp...	ORPHA:444077
Trisomy 9P	Sacral dimple, Short neck, Hypoplastic toenails, Kyphosis, Fingernail dysplasia, Scoliosis, Hypop...	ORPHA:236
15Q14 Microdeletion Syndrome	Kyphosis, Inguinal hernia, Short stature, Scoliosis	ORPHA:261190
Foodborne Botulism	Cerebral palsy, Diaphragmatic paralysis, Paralysis	ORPHA:228371
Pili Torti, Early-Onset	Dry hair, Brittle hair, Coarse hair, Pili torti, Hair shafts flattened at irregular intervals and...	OMIM:261900
Orofaciodigital Syndrome Type 1	Alopecia, Brittle hair, Ataxia, Abnormal dental enamel morphology, Tremor, Coarse hair, Dystonia,...	ORPHA:2750
Smith-Mccort Dysplasia 1	Short stature, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability...	OMIM:607326
Orofaciodigital Syndrome I	Dry hair, Alopecia, Short stature, Cerebral atrophy, Hypothalamic hamartoma, Sparse hair, Enamel ...	OMIM:311200
Classical-Like Ehlers-Danlos Syndrome Type 2	Ventral hernia, Thoracic scoliosis, Sacral dimple, Widened atrophic scar, Inguinal hernia, Kyphos...	ORPHA:536532
Sclerosteosis 1	Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Facial palsy secondary to cranial hyperost...	OMIM:269500
Oculodentodigital Dysplasia, Autosomal Recessive	Short stature, Sparse eyelashes, Fine hair, Sparse hair, Failure to thrive	OMIM:257850
Developmental And Epileptic Encephalopathy 100	Chorea, Gait ataxia, Choreoathetosis, Myoclonus, Dysphagia, Abnormal repetitive mannerisms	OMIM:619777
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Bilateral cryptorchidism, Sparse eyebrow, Fine hair, Sparse h...	OMIM:613451
Pitt-Hopkins Syndrome	Self-injurious behavior, Incoordination, Abnormal repetitive mannerisms, Gait ataxia	OMIM:610954
Noonan Syndrome	Abnormal hair quantity, Short stature, Abnormality of the spleen, Cryptorchidism, Aplasia/Hypopla...	ORPHA:648
Scalp-Ear-Nipple Syndrome	Short stature, Sparse axillary hair, Sparse pubic hair, Fine hair, Multiple lipomas, Lateral vent...	OMIM:181270
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic adenocarcinoma, Diabetes mellitus, Impaired glucose tolerance, Myocardial infarction, ...	ORPHA:99889
Aspartylglucosaminuria	Macroorchidism, Short stature, Kyphosis, Vacuolated lymphocytes, Cerebral atrophy, Spasticity, Ma...	OMIM:208400
Thanatophoric Dysplasia Type 1	Abnormal sacroiliac joint morphology, Patent ductus arteriosus, Kyphosis, Platyspondyly, Lethal s...	ORPHA:1860
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short stature, Fine hair, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of the eyebrow	OMIM:614091
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Short stature, Bilateral cryptorchidism, Kyphosis, Synophrys, Flexion contractur...	ORPHA:3042
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t...	OMIM:276820
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Exaggerated startle response, Short femur, Tapered finger, Hypertonia, Dysphagia, ...	OMIM:618367
Tay-Sachs Disease	Exaggerated startle response, Hypertonia	OMIM:272800
Primrose Syndrome	Skeletal muscle atrophy, Bilateral cryptorchidism, Synophrys, Flexion contracture, Knee flexion c...	OMIM:259050
Witteveen-Kolk Syndrome	Medial flaring of the eyebrow, Inguinal hernia, Small for gestational age, Unilateral cryptorchid...	OMIM:613406
Woolly Hair, Autosomal Dominant	Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai...	OMIM:194300
Kleefstra Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Self-mutilation, Aggressive behavior	ORPHA:261494
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Highly arched eyebrow, Impaired pain sensation, Kyphosis, Cry...	OMIM:619005
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t...	OMIM:262000
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho...	OMIM:108950
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Head-banging, Self-injurious behavior, Attention deficit hyperactivity disorder, Frequent temper ...	OMIM:619575
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Brain abscess, Lumbar hyperlordosis, Rhizomelia, Severe short stature, Kyphosis, Disproportionate...	OMIM:616482
Renpenning Syndrome 1	Brittle hair, Short stature, Cerebral atrophy, Scoliosis, Camptodactyly, Sparse hair, Spasticity,...	OMIM:309500
Copper Deficiency, Familial Benign	Curly hair, Failure to thrive, Early balding, Anemia	OMIM:121270
Craniolenticulosutural Dysplasia	Brittle hair, Short stature, Posterior wedging of vertebral bodies, Coarse hair, Scoliosis, Spars...	ORPHA:50814
Autosomal Recessive Robinow Syndrome	Sacral dimple, Inguinal hernia, Alopecia, Camptodactyly of finger, Short neck, Kyphosis, Cryptorc...	ORPHA:1507
Chime Syndrome	Fine hair, Acute leukemia, Retinal coloboma, Sparse hair, Cerebral cortical atrophy	ORPHA:3474
Osteopathia Striata With Cranial Sclerosis	Paranasal sinus hypoplasia, Arachnodactyly, Tracheomalacia, Micrognathia, Osteopathia striata, Cr...	OMIM:300373
Odontoonychodermal Dysplasia	Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Fine hair, Nail ...	OMIM:257980
7Q11.23 Microduplication Syndrome	Collectionism, Hyperactivity, Aggressive behavior, Polyphagia, Dysmetria, Self-injurious behavior...	ORPHA:96121
Osteoporosis-Pseudoglioma Syndrome	Short stature, Kyphoscoliosis, Kyphosis, Retinal calcification, Exudative retinopathy, Platyspond...	OMIM:259770
Cerebellofaciodental Syndrome	Short stature, Short neck, Sparse eyebrow, Cryptorchidism, Fine hair, Scoliosis	OMIM:616202
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Short stature, Kyphosis, Bilateral camptodactyly, Synophrys, Growth delay, Scoliosis	OMIM:619557
Mend Syndrome	Sacral dimple, Short stature, Abnormal auditory evoked potentials, Kyphosis, Cryptorchidism, Fail...	ORPHA:401973
Branchiooculofacial Syndrome	Facial palsy, Supernumerary nipple, Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Postnata...	OMIM:113620
Neuroocular Syndrome	Hypoplasia of the fovea, Sacral dimple, Scapular winging, Remnants of the hyaloid vascular system...	OMIM:619539
Prader-Willi Syndrome Due To Translocation	Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention deficit hyp...	ORPHA:177907
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Proportionate short stature, Abnormality of hair texture, Sparse eyeb...	ORPHA:2108
Cole-Carpenter Syndrome	Short stature, Abnormal dental enamel morphology, Kyphosis, Abnormal form of the vertebral bodies...	ORPHA:2050
Rodrigues Blindness	Sparse hair, Short stature, Fine hair	OMIM:268320
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti...	OMIM:304120
Cowden Syndrome	Ataxia, Short stature, Kyphosis, Macroglossia, Scoliosis, Lipoma, Failure to thrive	ORPHA:201
Van Esch-O'Driscoll Syndrome	Impulsivity, Unilateral vocal cord paralysis, Attention deficit hyperactivity disorder, Spasticit...	OMIM:301030
Mend Syndrome	Sacral dimple, Short stature, Kyphosis, Cryptorchidism, Hypertonia, Macular hypoplasia, Failure t...	OMIM:300960
Cardiofacioneurodevelopmental Syndrome	Asplenia, Kyphosis, Cryptorchidism, Camptodactyly, Aplasia/Hypoplasia of the nails	OMIM:619123
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Lumbar hyperlordosis, Short stature, Camptodactyly of finger, Kyphoscoliosis, Short neck, Rhizome...	OMIM:143095
Ectodermal Dysplasia-Blindness Syndrome	Sparse hair, Abnormal fingernail morphology, Short stature, Fine hair	ORPHA:1806
Inhalational Botulism	Paralysis	ORPHA:254504
Occipital Horn Syndrome	Orthostatic hypotension, Hiatus hernia, Kyphosis, Growth delay, Platyspondyly, Coarse hair, Pili ...	OMIM:304150
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Cerebellar atrophy, Hyperlordosis, Large for gestational age, Kyphosis, Sparse eyebrow, Gait atax...	OMIM:617011
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Abnormal pyramidal sign, Self-injurious behavior, Hypertonia, Hyperkinetic movements, Spasticity,...	ORPHA:468631
Trichodermodysplasia-Dental Alterations Syndrome	Sparse scalp hair, Brittle hair, Hyperlordosis, Fine hair, Sparse or absent eyelashes, Scoliosis,...	ORPHA:3353
Hypotonia, Ataxia, And Delayed Development Syndrome	Speech apraxia, Ataxia, Dysmetria, Gait ataxia, Dysphagia, Truncal ataxia, Abnormal repetitive ma...	OMIM:617330
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu...	OMIM:224700
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Pain insensitivity, Optic nerve hypoplasia, Short neck, Hair-pulling, Dystonia, Umbilical hernia	OMIM:620330
Mucoepithelial Dysplasia, Hereditary	Alopecia, Eosinophilia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilia...	OMIM:158310
Spondyloperipheral Dysplasia	Short stature, Ovoid vertebral bodies, Short neck, Rhizomelic leg shortening, Kyphosis, Irregular...	OMIM:271700
Ablepharon Macrostomia Syndrome	Omphalocele, Absent eyebrow, Camptodactyly of finger, Abnormal hair pattern, Absent eyelashes, Fi...	ORPHA:920
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Holt-Oram Syndrome	Kyphosis, Patent ductus arteriosus, Scoliosis	ORPHA:392
Wrinkly Skin Syndrome	Scapular winging, Inguinal hernia, Short stature, Short nail, Hypoplasia of the musculature, Kyph...	OMIM:278250
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Poor gross motor coordination, Hand tremor, Dysmetria...	OMIM:614756
Eec Syndrome	Short stature, Abnormal dental enamel morphology, Slow-growing hair, Sparse eyebrow, Nail pits, F...	ORPHA:1896
Argininosuccinic Aciduria	Dry hair, Brittle hair, Ataxia, Failure to thrive, Trichorrhexis nodosa	OMIM:207900
Distal Renal Tubular Acidosis	Hemolytic anemia, Short stature, Paralysis, Growth delay, Failure to thrive	ORPHA:18
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Orofaciodigital Syndrome Type 4	Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ...	ORPHA:2753
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d...	ORPHA:978
Erythrokeratodermia Variabilis Et Progressiva 7	Woolly hair, Dystrophic toenail	OMIM:619209
Vici Syndrome	Abnormality of retinal pigmentation, Short stature, Optic atrophy, Agenesis of corpus callosum, C...	ORPHA:1493
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Self-injurious behavior, Compulsive behaviors, Frequent temper tantrums, Abnormal ...	OMIM:619512
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp...	OMIM:305100
Pachyonychia Congenita 2	Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Sparse eyebrow, Nail dystrophy, Nail dyspl...	OMIM:167210
Uncombable Hair Syndrome 1	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
Marfanoid Habitus With Situs Inversus	Kyphosis, Scoliosis	OMIM:609008
Coffin-Lowry Syndrome	Inguinal hernia, Short stature, Highly arched eyebrow, Kyphosis, Lumbar kyphosis, Hyperconvex fin...	OMIM:303600
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Broad toe, Exaggerated startle response, Tapered finger, Short thumb, Short foot, Short 5th finge...	OMIM:619522
Wiedemann-Steiner Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Dysphagia, Aggressive behavior	ORPHA:319182
Mosaic Trisomy 20	Vertebral fusion, Kyphosis, Abnormal spinal cord morphology, Cryptorchidism, Spinal canal stenosi...	ORPHA:1724
Frank-Ter Haar Syndrome	Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Growth delay, Prominent coccy...	OMIM:249420
Pineoblastoma	Papilledema, Retinoblastoma, Paralysis	ORPHA:251909
Sotos Syndrome	Astrocytoma, Tremor, Flexion contracture, Abnormal vertebral morphology, Cryptorchidism, Patent d...	ORPHA:821
Melnick-Needles Syndrome	Omphalocele, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Coarse hair, Frontal hirsu...	OMIM:309350
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to thrive in infancy,...	OMIM:163950
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Scapular winging, Abnormality of hair texture, Hyperlordosis, Synophrys, Hypoplastic sweat glands...	ORPHA:73223
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Short stature, Camptodactyly of finger, Postnatal growth retardation, Kyphosis...	OMIM:309000
Viss Syndrome	Retinal detachment, Inguinal hernia, Sparse scalp hair, Short stature, Alopecia, Kyphosis, Patent...	OMIM:619472
Cranioectodermal Dysplasia 3	Rhizomelia, Short nail, Short stature, Broad nail, Fine hair, Sparse hair	OMIM:614099
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Compulsive behaviors, Dysphagia, Attentio...	OMIM:615873
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Atrophic scars, Scoliosis, Hyperlordosis	OMIM:617821
Osteogenesis Imperfecta, Type Viii	Inguinal hernia, Kyphosis, Platyspondyly, Disproportionate short-limb short stature, Scoliosis, V...	OMIM:610915
Chand Syndrome	Curly hair, Nail dysplasia	OMIM:214350
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Sparse eyelashes, Abnormal dental enamel morphology, Hyperconvex nail, Supernumerary nipple, Spar...	ORPHA:1071
Alkaptonuria	Low back pain, Vertebral fusion, Kyphosis, Thickened Achilles tendon, Intervertebral disc degener...	OMIM:203500
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Inguinal hernia, Trichiasis, Sparse eyebrow, Kyphosis, Thin eyebrow	OMIM:609944
Orofaciodigital Syndrome Iii	Kyphosis, Hyperconvex nail, Myoclonus	OMIM:258850
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of...	ORPHA:2062
Williams-Beuren Syndrome	Medial flaring of the eyebrow, Inguinal hernia, Incoordination, Failure to thrive in infancy, Sho...	OMIM:194050
Pigmented Nodular Adrenocortical Disease, Primary, 2	Truncal obesity, Kyphosis	OMIM:610475
Lymphedema-Distichiasis Syndrome	Yellow nails, Kyphosis, Patent ductus arteriosus, Cellulitis, Distichiasis	OMIM:153400
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture	ORPHA:85193
Turner Syndrome Due To Structural X Chromosome Anomalies	Alopecia, Failure to thrive in infancy, Short stature, Abnormal fingernail morphology, Short neck...	ORPHA:99413
Osteogenesis Imperfecta, Type Iv	Short stature, Biconcave flattened vertebrae, Kyphosis, Scoliosis, Dentinogenesis imperfecta	OMIM:166220
Mosaic Monosomy X	Alopecia, Failure to thrive in infancy, Short stature, Abnormal fingernail morphology, Short neck...	ORPHA:99228
Monosomy X	Alopecia, Failure to thrive in infancy, Short stature, Abnormal fingernail morphology, Short neck...	ORPHA:99226
Turner Syndrome	Alopecia, Failure to thrive in infancy, Short stature, Abnormal fingernail morphology, Short neck...	ORPHA:881
Acromegaly	Cerebral palsy, Abnormal fingernail morphology, Kyphosis, Synophrys, Spinal canal stenosis, Macro...	ORPHA:963
Alström Syndrome	Thoracic scoliosis, Hypoplasia of the Leydig cells, Ataxia, Short stature, Drusen, Testicular fib...	ORPHA:64
Somatomammotropinoma	Cerebral palsy, Abnormal fingernail morphology, Kyphosis, Synophrys, Spinal canal stenosis, Macro...	ORPHA:314769
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Sparse hair, Brittle hair, Absent nipple, Absent hair	OMIM:614940
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Repetitive compulsive behavior, Stereotypical body rocking, Abnormal repetitive mannerisms, Gait ...	ORPHA:513456
Mucopolysaccharidosis Type 2	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal temper tantrums, Abnormal repetitive ma...	ORPHA:580
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Abnormal repetitive mannerisms, Aggressive behavior	OMIM:301066
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Hypopigmentation of hair, Short stature, Widow's peak, Coarse hair	ORPHA:1974
Cdags Syndrome	Sparse eyebrow, Kyphosis, Sparse eyelashes, Sparse scalp hair	OMIM:603116
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Hyperactivity, Poor coordination, Abnormal repetitive mannerisms, Spastic diplegia	OMIM:309590
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Curly hair, Sacral dimple, Short stature, Thoracolumbar scoliosis, Patent ductus arteriosus, Hypo...	ORPHA:480880
Trichotillomania	Hair-pulling, Alopecia	OMIM:613229
Arboleda-Tham Syndrome	Lower limb hypertonia, Abnormal repetitive mannerisms, Dysphagia, Dystonia	OMIM:616268
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Tachycardia, Tricuspid regurgitation, Right ventricular failure, Cardiomegaly, Low-...	ORPHA:99125
Pigmented Nodular Adrenocortical Disease, Primary, 1	Truncal obesity, Kyphosis	OMIM:610489
Woodhouse-Sakati Syndrome	Alopecia, Fine hair, Choreoathetosis, Abnormality of extrapyramidal motor function, Dystonia, Spa...	OMIM:241080
Shprintzen Omphalocele Syndrome	Omphalocele, Lumbar hyperlordosis, Short stature, Kyphosis, Scoliosis, Decreased body weight	OMIM:182210
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b...	ORPHA:353281
Chromosome Xq26.3 Duplication Syndrome	Kyphosis	OMIM:300942
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Abnormal repetitive mannerisms	OMIM:618653
Vascular Ehlers-Danlos Syndrome	Inguinal hernia, Alopecia, Short stature, Abnormality of hair texture, Abnormal eyelash morpholog...	ORPHA:286
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Absent eyebrow, Thin fingernail, Abnormal dental enamel morphology, Absent eyelashes, Kyphosis	ORPHA:85199
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Abnormal repetitive mannerisms	ORPHA:508498
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Hypertonia, Abnormal repetitive mannerisms, Spastic tetraparesis	OMIM:301044
Linear Skin Defects With Multiple Congenital Anomalies 1	Histiocytoid cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia	OMIM:309801
Familial Osteodysplasia, Anderson Type	Kyphosis, Thick eyebrow, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2769
Cerebrocostomandibular Syndrome	Kyphosis, Short stature, Spina bifida, Intrauterine growth retardation	ORPHA:1393
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Tremor, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:612474
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Sacroiliac arthritis, Enthesitis	OMIM:106300
Yunis-Varon Syndrome	Sparse scalp hair, Absent nipple, Small for gestational age, Failure to thrive in infancy, Anteri...	OMIM:216340
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b...	ORPHA:353277
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Kyphosis, Delayed puberty, Scoliosis, Cryptorchidism	OMIM:619718
Norrie Disease	Clonus, Self-injurious behavior, Hypertonia, Attention deficit hyperactivity disorder, Abnormal r...	ORPHA:649
Chand Syndrome	Curly hair, Ataxia, Nail dysplasia	ORPHA:1401
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Abnormal repetitive mannerisms	OMIM:616682
Coffin-Siris Syndrome 12	Abnormal repetitive mannerisms	OMIM:619325
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Scoliosis	OMIM:619482
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bruxism, Poor fine motor coordination, Dysphagia, Spasticity, Abnormal repetitive mannerisms	ORPHA:261537
Mowat-Wilson Syndrome	Ataxia, Bruxism, Dysphagia, Spasticity, Abnormal repetitive mannerisms	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bruxism, Poor fine motor coordination, Dysphagia, Spasticity, Abnormal repetitive mannerisms	ORPHA:261552
Spondyloepimetaphyseal Dysplasia, X-Linked	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Disproportionate short-trunk ...	OMIM:300106

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 Epg5

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 Epg5.

No publications found that use IMPC mice or data for Epg5.

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

MGI Allele	Allele Type	Produced
Epg5^em1(IMPC)H	Exon Deletion	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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