banner
Genes Phenotypes Help, News, Blog

Gene: Stim1 MGI:107476

Log in to follow

Gene Summary

Name:
stromal interaction molecule 1
Synonyms:
SIM

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
microphthalmia Stim1em1(IMPC)Mbp HOM E15.5 0.00
embryonic growth retardation Stim1em1(IMPC)Mbp HET E15.5 0.00
enlarged kidney Stim1em1(IMPC)Mbp HET Early adult 0.00
increased lymphocyte cell number Stim1em1(IMPC)Mbp HET Early adult 9.98×10-14
abnormal skin morphology Stim1em1(IMPC)Mbp HET Late adult 0.00
enlarged spleen Stim1em1(IMPC)Mbp HET Late adult 0.00
abnormal placenta morphology Stim1em1(IMPC)Mbp HOM E15.5 0.00
cataract Stim1em1(IMPC)Mbp HET   Late adult 1.51×10-05
small kidney Stim1em1(IMPC)Mbp HET Late adult 0.00
abnormal lymph node morphology Stim1em1(IMPC)Mbp HET Early adult 0.00
abnormal vitreous body morphology Stim1em1(IMPC)Mbp HET   Late adult 4.80×10-06
enlarged heart Stim1em1(IMPC)Mbp HET Early adult 0.00
microphthalmia Stim1em1(IMPC)Mbp HET E15.5 0.00
abnormal spleen morphology Stim1em1(IMPC)Mbp HET Late adult 0.00
increased leukocyte cell number Stim1em1(IMPC)Mbp HET Early adult 1.43×10-11
abnormal placenta vasculature Stim1em1(IMPC)Mbp HET E15.5 0.00
preweaning lethality, complete penetrance Stim1em1(IMPC)Mbp HOM   Early adult 0.00
enlarged lymph nodes Stim1em1(IMPC)Mbp HET Early adult 0.00
abnormal placenta morphology Stim1em1(IMPC)Mbp HET E15.5 0.00
abnormal eye morphology Stim1em1(IMPC)Mbp HET Late adult 0.00
abnormal kidney morphology Stim1em1(IMPC)Mbp HET Late adult 0.00
increased neutrophil cell number Stim1em1(IMPC)Mbp HET Early adult 9.83×10-05
decreased exploration in new environment Stim1em1(IMPC)Mbp HET Early adult 1.09×10-08

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

128 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

64 Images

View images
Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E14.5-E15.5

Embryo reconstruction

6 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

21 Images

View images
Gross Morphology Embryo E14.5-E15.5

Images

20 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

7 Images

View images
Histopathology

Images

3 Images

View images

Human diseases caused by Stim1 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.

The table below shows human diseases predicted to be associated to Stim1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Gray Platelet Syndrome
Abnormal bleeding, Impaired thrombin-induced platelet aggregation, Myelofibrosis, Abnormal number... OMIM:139090
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Gastrointestinal hemorrhage, Impaired epinephrine-induced platelet aggregation... OMIM:187900
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal h... ORPHA:231393
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Anemia, Myelofibrosis, Thrombocytopenia, Splenomegaly OMIM:617441
Thrombocytopenia 7
Post-partum hemorrhage, Impaired ADP-induced platelet aggregation, Reduced platelet alpha granule... OMIM:619130
Glanzmann Thrombasthenia 2
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, D... OMIM:619267
Thrombocytopenia 9
Abnormal bleeding, Thrombocytopenia, Abnormal platelet aggregation OMIM:620478
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced pla... OMIM:155100
Ghosal Hematodiaphyseal Dysplasia
Increased bone mineral density, Myelofibrosis, Bone marrow hypocellularity, Thrombocytopenia, Leu... OMIM:231095
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Purpura, Impaired epinephrine-induced platelet aggregation, Impaired... OMIM:273800
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time, Thrombocytopenia, Giant platelets, Abnormal bleeding OMIM:608404
Thrombocytopenia 6
Abnormal bleeding, Bone marrow hypercellularity, Spontaneous, recurrent epistaxis, Myelofibrosis,... OMIM:616937
Athrombia, Essential
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion OMIM:209050
Acute Panmyelosis With Myelofibrosis
Abnormal megakaryocyte morphology, Bone marrow hypercellularity, Acute myeloid leukemia, Increase... ORPHA:86843
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Impaired ADP-induced plate... OMIM:618462
Bernard-Soulier Syndrome
Purpura, Abnormal bleeding, Giant platelets, Gastrointestinal hemorrhage, Gingival bleeding, Meno... OMIM:231200
Tibial Muscular Dystrophy
Rimmed vacuoles, EMG: myopathic abnormalities, Mildly elevated creatine kinase, Increased variabi... ORPHA:609
Inclusion Body Myopathy And Brain White Matter Abnormalities
Babinski sign, Proximal muscle weakness in upper limbs, Fasciculations, Rimmed vacuoles, Scapular... OMIM:619733
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... OMIM:187950
Bleeding Disorder, Platelet-Type, 11
Abnormal platelet count, Impaired collagen-induced platelet aggregation, Menorrhagia, Epistaxis, ... OMIM:614201
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Babinski sign, Rimmed vacuoles, Facial palsy, Scapul... OMIM:617158
Myopathy, Distal, 5
Muscle fiber splitting, Distal lower limb muscle weakness, Distal amyotrophy, Rimmed vacuoles, We... OMIM:617030
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impa... OMIM:619271
Distal Myopathy, Welander Type
Distal upper limb amyotrophy, Rimmed vacuoles, EMG: myopathic abnormalities, Mildly elevated crea... ORPHA:603
Platelet Signal Processing Defect
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... OMIM:173590
Myopathy, Myofibrillar, 3
Muscle fiber splitting, Distal amyotrophy, Cardiomyopathy, Elevated circulating creatine kinase c... OMIM:609200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular dystrophy, Calf muscle pseudohypertrophy, Facial palsy, EMG: myopathic abnormalities, El... OMIM:254110
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Post-partum hemorrhage, Menorrhagia, Thrombocytopenia, Macrothromb... OMIM:124900
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal sensory impairment, Distal amyotrophy, Tremor, Fiber type grouping, Mildly elevated creati... OMIM:614369
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Elevated circulat... OMIM:609115
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscle fiber splitting, Hyperlordosis, Scapular winging, Elevated circulating creatine kinase con... OMIM:618129
Myelofibrosis
Purpura, Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Myelofibrosis, Splenomegaly... OMIM:254450
Spinal Muscular Atrophy, Type Iv
Hand tremor, Tongue fasciculations, Calf muscle hypertrophy, Rimmed vacuoles, Spinal muscular atr... OMIM:271150
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thro... OMIM:314050
Polyglucosan Body Myopathy 2
Peroneal muscle weakness, Muscle fiber inclusion bodies, Muscle fiber polyglucosan inclusion bodi... OMIM:616199
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Rimmed vacuoles, Elevated circulating creatine kinase concentratio... OMIM:615424
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Abnormal bleeding, Giant platelets, Anemia, Impaired platelet aggregation,... OMIM:187800
Myopathy, Sarcoplasmic Body
Sarcoplasmic bodies, Elevated circulating creatine kinase concentration, Weakness of the intrinsi... OMIM:620286
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired epinephrine-induced platelet aggregation, Bruising susceptibili... OMIM:615888
Inclusion Body Myositis
Inflammatory myopathy, Ragged-red muscle fibers, Rimmed vacuoles, Elevated circulating creatine k... ORPHA:611
Bleeding Disorder, Platelet-Type, 25
Excessive bleeding from superficial cuts, Post-partum hemorrhage, Spontaneous, recurrent epistaxi... OMIM:620486
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Abnormal platelet count, Impaired thromboxane A2 agonist-induced platelet aggregation, Ecchymosis... OMIM:614009
Gne Myopathy
Hip flexor weakness, Muscle fiber inclusion bodies, Lower limb amyotrophy, Rimmed vacuoles, Abnor... ORPHA:602
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Generalized limb muscle atrophy, Pelvic girdle muscle weakness, Calf muscle pseudohypertrophy, Sc... OMIM:608358
Essential Thrombocythemia
Acute leukemia, Abnormal megakaryocyte morphology, Megakaryocyte nucleus hyperlobulation, Abnorma... ORPHA:3318
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Type 2 muscle fiber predominance, Spinal muscular atrophy, Proximal lower limb amyotrophy, Somati... OMIM:158600
Myopathy, Distal, Tateyama Type
Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Hand muscle weakness... OMIM:614321
Mitochondrial Myopathy With Diabetes
Babinski sign, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Weakness of ... OMIM:500002
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Calf muscle hypertrophy, Scoliosis, Triceps weakness, Elevated circulating cr... ORPHA:86812
Myasthenic Syndrome, Congenital, 14
Knee flexion contracture, Ragged-red muscle fibers, Scoliosis, Hyperlordosis, Scapular winging, M... OMIM:616228
Myopathy, Centronuclear, 1
Proximal upper limb amyotrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle... OMIM:160150
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Muscle fiber splitting, Ankle flexion contracture, Calf muscle hypertrophy, Rimmed vacuoles, Hype... OMIM:617760
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Rimmed vacuoles, Scap... OMIM:301075
Rhabdomyolysis, Susceptibility To, 1
Type 2 muscle fiber predominance, Abnormal circulating acylcarnitine concentration, Elevated circ... OMIM:620235
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal circulatin... OMIM:614807
Nonaka Myopathy
Distal lower limb muscle weakness, Deposits immunoreactive to beta-amyloid protein, Distal amyotr... OMIM:605820
Proximal Myopathy With Extrapyramidal Signs
Central core regions in muscle fibers, Progressive extrapyramidal muscular rigidity, Chorea, Rest... ORPHA:401768
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Ankle flexion contracture, Central core regions in muscle fibers, Scoliosis, Nemaline bodies, Inc... OMIM:117000
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphoscoliosis, Abnormal circulating creatine kinase concentration, Scoliosis, Kyphosis, Bilatera... OMIM:618484
Nemaline Myopathy 6
Facial palsy, Elevated circulating creatine kinase concentration, Nemaline bodies, Limb muscle we... OMIM:609273
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Scapular winging, Elevated circulating creatine kinase concentration, Cardiom... OMIM:612999
Immune Thrombocytopenia
Abnormal bleeding, Thrombocytopenia OMIM:188030
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular dystrophy, Elevated circulating creatine concentration, Rimmed vacuoles, Scapular wingin... OMIM:608423
Congenital Myopathy 18
Scoliosis, Elevated circulating creatine kinase concentration, Increased variability in muscle fi... OMIM:620246
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Distal amyotrophy,... OMIM:618655
Sandhoff Disease, Adult Form
Fasciculations, Spasticity, Tremor, Upper limb muscle weakness, Elevated circulating creatine kin... ORPHA:309169
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Myelofibrosis, Leukocytosis, Ascites, Thrombocytopenia, Sp... ORPHA:457077
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Kyphoscoliosis, Scoliosis, Fatty replacement of ventricular myocardial tissue, Wrist flexion cont... OMIM:620386
Myopathy, Autophagic Vacuolar, Infantile-Onset
Elevated circulating creatine kinase concentration, Autophagic vacuoles, Myopathy, Hypertrophic c... OMIM:609500
Bethlem Myopathy 2
Scoliosis, Scapular winging, Elevated circulating creatine kinase concentration, Kyphosis, Increa... OMIM:616471
Platelet Disorder, Undefined
Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia OMIM:173420
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber splitting, Internally nucleated skeletal muscle fibers, Necrotizing myopathy, Calf m... ORPHA:178464
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Muscle fiber splitting, Muscular dystrophy, Rimmed vacuoles, Scapular winging, Elevated circulati... OMIM:601846
Klhl9-Related Early-Onset Distal Myopathy
Ankle flexion contracture, Distal sensory impairment, Amyotrophy of ankle musculature, Impaired v... ORPHA:399081
Slc35A1-Cdg
Abnormal megakaryocyte morphology, Abnormal bleeding, Giant platelets, Abnormal platelet granules... ORPHA:238459
Congenital Myopathy 5 With Cardiomyopathy
Calf muscle hypertrophy, Scoliosis, Elevated circulating creatine kinase concentration, Increased... OMIM:611705
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Increased intramuscul... ORPHA:276435
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... OMIM:617610
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Distal upper limb amy... OMIM:620068
Myofibrillar Myopathy 11
Type 1 muscle fiber predominance, Calf muscle hypertrophy, EMG: myopathic abnormalities, Increase... OMIM:619178
Myopathy, Distal, 4
Distal upper limb amyotrophy, Cardiomyopathy, Thenar muscle weakness, Skeletal muscle atrophy, Mi... OMIM:614065
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Muscle fiber splitting, Babinski sign, Somatic sensory dysfunction, Distal sensory impairment, Lo... OMIM:616924
Myopathy, Scapulohumeroperoneal
Scoliosis, Hyperlordosis, Scapular winging, Facial palsy, Nemaline bodies, Increased variability ... OMIM:616852
Tubular Aggregate Myopathy
Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Increased variability in muscle fi... ORPHA:2593
Myopathy, Myofibrillar, 5
Muscle fiber splitting, Elevated circulating creatine kinase concentration, Muscle fiber cytoplas... OMIM:609524
Congenital Myopathy 20
Short finger, Scoliosis, Scapular winging, Nemaline bodies, Congenital contracture, Frequent fall... OMIM:620310
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Hoffmann sign, Babinski sign, Proximal muscle weakness in upper limbs, Distal lower limb muscle w... OMIM:620402
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Spasticity, Increased serum pyruvate, Ataxia, Myoclonus, Myopathy OMIM:545000
Von Willebrand Disease, Type 3
Abnormal bleeding, Impaired platelet aggregation, Menorrhagia, Joint hemorrhage, Thrombocytopenia... OMIM:277480
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time, Abnormal bleeding OMIM:314560
Bethlem Myopathy 1A
Ankle flexion contracture, Torticollis, Congenital muscular torticollis, Elbow flexion contractur... OMIM:158810
Marinesco-Sjogren Syndrome
Limb ataxia, Short metatarsal, Scoliosis, Rimmed vacuoles, Spasticity, Short metacarpal, Kyphosis... OMIM:248800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Ankle flexion contracture, Calf muscle hypertrophy, Scoliosis, Scapular winging, EMG: myopathic a... OMIM:608099
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Calf muscle hypertrophy, Muscle fiber necrosis, Increased variability in muscle fiber diameter, F... OMIM:618848
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Myopa... OMIM:618992
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Decreased circulating a... ORPHA:2585
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Type 1 muscle fiber predominance, Tongue fasciculations, Centrally nucleated skeletal muscle fibe... OMIM:618823
Muscular Dystrophy, Limb-Girdle, Type 1H
Muscular dystrophy, Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, ... OMIM:613530
Welander Distal Myopathy
Mildly elevated creatine kinase, Distal amyotrophy, Rimmed vacuoles OMIM:604454
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Scoliosis, Rimmed vacuoles, Hyperlordosis, Elevated circulating creatine kinase concentration, Ky... OMIM:300718
Myopathy, Vacuolar, With Casq1 Aggregates
Muscle fiber calsequestrin 1-containing inclusion bodies, Elevated circulating creatine kinase co... OMIM:616231
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Proximal muscle weakness in upper limbs, Abnormal circulating creatine kinase concentration, Lowe... OMIM:620375
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Biventricular hypertrophy, Muscle fiber hyaline bodies, Calf muscle hypertrophy, Scoliosis, EMG: ... OMIM:255160
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Hip flexor weakness, Facial hypotonia, Autophagic vacuoles, EMG: myopathic abnormalities, Elevate... ORPHA:266
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Talipes equinovarus, ... OMIM:619216
Spinal Muscular Atrophy, Jokela Type
Distal sensory impairment, Hammertoe, Fasciculations, Calf muscle hypertrophy, Tremor, Spinal mus... OMIM:615048
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Abnormal macrophage morphology, Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Scoliosis... ORPHA:353
Bleeding Disorder, Platelet-Type, 8
Bruising susceptibility, Ecchymosis, Impaired ADP-induced platelet aggregation OMIM:609821
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Scoliosis, EMG: myopathic abnormalities, Limb muscle weakness, Increased variability in muscle fi... ORPHA:486815
Tatsumi Factor Deficiency
Prolonged bleeding time, Abnormal bleeding OMIM:272650
Glanzmann Thrombasthenia
Spontaneous hematomas, Purpura, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Gi... ORPHA:849
King-Denborough Syndrome
Kyphoscoliosis, Scoliosis, Thoracic kyphosis, Ventricular septal defect, Elevated circulating cre... OMIM:619542
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal upper limb amyotrophy, Muscular dystrophy, Proximal muscle weakness in upper limbs, Dist... OMIM:601954
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Distal amyotrophy, Rimmed vacuoles, Scapular winging, Facial palsy, Elevated circulating creatine... OMIM:167320
Congenital Myopathy 3 With Rigid Spine
Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Scoliosis, Facial palsy, Dec... OMIM:602771
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Kyphoscoliosis, Impaired temperature sensation, Clubbing of fingers, Fasciculations, Impaired pai... OMIM:619574
Merrf
Ragged-red muscle fibers, Ataxia, Myopathy ORPHA:551
Congenital Myopathy 1B, Autosomal Recessive
Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Scoliosis, Facial palsy, Nem... OMIM:255320
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle hypertrophy, Scoliosis, Rimmed vacuoles, Scapular winging, EMG: myopathic abnorma... OMIM:300696
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Myelofibrosis, Acute myeloid leukemia, Chronic myelomonocytic leukemia OMIM:616604
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility, Thrombocytopenia OMIM:614200
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Babinski sign, Hammertoe, Scoliosis, Elevated circulating creatine kinase concentration, Increase... OMIM:620542
Spinocerebellar Ataxia 43
Limb ataxia, Distal sensory impairment, Distal amyotrophy, Tremor, Gait ataxia, Rigidity, Ataxia OMIM:617018
Spinal Muscular Atrophy, Infantile, James Type
Distal amyotrophy, Scoliosis, Increased variability in muscle fiber diameter, Hip contracture, Ty... OMIM:619042
Thrombocytopenia, Paris-Trousseau Type
Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia OMIM:188025
Adult-Onset Nemaline Myopathy
Bradykinesia, Type 1 muscle fiber predominance, Upper limb muscle weakness, Nemaline bodies, EMG:... ORPHA:171442
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Ragged-red muscle fibers, Facial palsy, Elevated circulating creatine kinase concentration, Proxi... OMIM:616209
Myopathy, Tubular Aggregate, 1
Elevated circulating creatine kinase concentration, Weakness of the intrinsic hand muscles, Frequ... OMIM:160565
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ristocetin-induced platelet aggregation, Petechiae, Gingival bleeding, Impaired ADP-indu... OMIM:153670
Congenital Myopathy 4A, Autosomal Dominant
Scoliosis, Facial palsy, Type 1 fibers relatively smaller than type 2 fibers, Centrally nucleated... OMIM:255310
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, EMG: myopathic abnormalities, Elevated circulating creatine kinase concentration... OMIM:618940
Childhood-Onset Nemaline Myopathy
Bradykinesia, Generalized limb muscle atrophy, Scoliosis, Facial diplegia, Scapular winging, EMG:... ORPHA:171439
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Elevated circulating creatine kinase concentration, Increased variability in mus... OMIM:612937
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Scoliosis, Increased variability in muscle fiber diameter, Centrally nucleate... OMIM:617066
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia, Flexion contracture, Skeletal muscle atrophy OMIM:611105
Carnitine Deficiency, Myopathic
Reduced muscle carnitine level, Myopathy, Decreased circulating carnitine concentration OMIM:212160
Myopathy, Distal, 1
Left atrial enlargement, Distal lower limb muscle weakness, Ragged-red muscle fibers, Tibialis an... OMIM:160500
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Scoliosis, Elevated circulating creatine kinase concentration, Increased variability in muscle fi... OMIM:300717
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscl... ORPHA:488650
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu... OMIM:613496
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscular dystrophy, Hepatomegaly, Abnormal circulating creatine kinase concentration, Chorea, Tru... ORPHA:369840
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Muscular dystrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, W... OMIM:619566
Gray Platelet Syndrome
Abnormal bleeding, Thrombocytopenia, Splenomegaly, Epistaxis, Bruising susceptibility, Abnormalit... ORPHA:721
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Foot dorsiflexor weakne... OMIM:181400
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Congenital Myopathy With Myasthenic-Like Onset
Type 1 muscle fiber predominance, Scoliosis, Scapular winging, EMG: myopathic abnormalities, Fail... ORPHA:424107
Amegakaryocytic Thrombocytopenia, Congenital, 1
Megakaryocytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Rimmed vacuoles, Elevated circulating creatine kinase concentration, Ab... ORPHA:270
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Muscular dystrophy, Torticollis, Scoliosis, Elevated circulating creatine kinase concentration, I... OMIM:613204
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Elevated circulating creatine kinase concentration, Increased variability in muscle fiber diamete... ORPHA:1878
Myopathy, Centronuclear, 2
Scoliosis, Hyperlordosis, Facial palsy, Scapular winging, EMG: myopathic abnormalities, Kyphosis,... OMIM:255200
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Weakness of facial mu... ORPHA:457050
Central Core Disease
Kyphoscoliosis, Type 1 muscle fiber predominance, Pelvic girdle muscle weakness, Abnormal circula... ORPHA:597
Bleeding Disorder, Platelet-Type, 21
Abnormal bleeding, Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Incr... OMIM:617443
Polycythemia Vera
Acute leukemia, Gastrointestinal hemorrhage, Hepatomegaly, Myelofibrosis, Leukocytosis, Portal hy... ORPHA:729
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Scoliosis, Abnormal Z disk morphology, Increased var... OMIM:618654
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myositis, Rimmed vacuoles, Elevated circulating creatine kinase concentration, Centrally nucleate... OMIM:615422
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Alpha-B Crystallin-Related Late-Onset Myopathy
Accumulation of muscle fiber desmin, Muscle fiber inclusion bodies, Facial diplegia, Autophagic v... ORPHA:399058
Finnish Upper Limb-Onset Distal Myopathy
Distal sensory impairment, Clumsiness, Amyotrophy of ankle musculature, Rimmed vacuoles, Split ha... ORPHA:399086
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Congenital contracture, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Myopathy, Ta... OMIM:208100
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Lower limb amyotrophy, Calf muscle hypertrophy, Cardiomyopathy, Wrist flexion contracture, Upper ... ORPHA:206549
Congenital Myopathy 10A, Severe Variant
Tongue fasciculations, Scoliosis, Diaphragmatic paralysis, Facial palsy, EMG: myopathic abnormali... OMIM:614399
Nemaline Myopathy 7
Kyphoscoliosis, Weakness of facial musculature, Nemaline bodies, Limb muscle weakness, Frequent f... OMIM:610687
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Scoliosis, Cardiomyopathy, Elevated circulating creatine kinase concentration, Fatty replacement ... OMIM:255100
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Ankle flexion contracture, Elevated circulating creatine kinase concentration... OMIM:617072
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Frontalis muscle weakness, Facial palsy, Decreased body weight, Type 1 fibers relatively smaller ... OMIM:300580
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Babinski sign, Myoclonus, Increased variability in muscle fiber diameter, Dystonia, Ataxia, Incre... OMIM:619065
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, Cardiomyopathy, EMG: myopathic abnormalities, Elevated circulating creatine k... OMIM:608807
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso... ORPHA:3226
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Distal amyotrophy, Rimmed vacuoles, Tremor, Elevated... OMIM:619473
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Purpura, Acute myeloid leukemia, Abnormal dense granule content, Impaired platelet aggregation, P... OMIM:601399
Mitochondrial Complex I Deficiency, Nuclear Type 21
Babinski sign, Ragged-red muscle fibers, Spasticity, Ataxia, Myopathy OMIM:618242
Autosomal Recessive Progressive External Ophthalmoplegia
Bradykinesia, Distal sensory impairment, Ragged-red muscle fibers, Parkinsonism with favorable re... ORPHA:254886
Reticuloendotheliosis, X-Linked
Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Multiminicore Myopathy
Muscular dystrophy, Proximal muscle weakness in upper limbs, Scoliosis, Failure to thrive, Minico... ORPHA:598
Amyotrophic Lateral Sclerosis 28
Chaddock reflex, Babinski sign, Fasciculations, Rimmed vacuoles, Upper limb muscle weakness, Fibe... OMIM:620452
Ullrich Congenital Muscular Dystrophy
Torticollis, Long toe, Scoliosis, Elbow flexion contracture, EMG: myopathic abnormalities, Kyphos... ORPHA:75840
Dysplasia Of Head Of Femur, Meyer Type
Enlarged tonsils, Leukocytosis ORPHA:168621
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Muscle fiber necrosis, Elevated circulating creatine kinase concentration, Increased variability ... OMIM:620138
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform,... OMIM:302045
Nemaline Myopathy 2
Hyperlordosis, Sternocleidomastoid amyotrophy, Muscle fiber splitting, Type 1 muscle fiber predom... OMIM:256030
Immunodeficiency 95
Increased circulating IgG3 level, Decreased circulating IgG3 level, Respiratory failure, Lymphopenia OMIM:619773
Myopathy, Myofibrillar, 8
Central core regions in muscle fibers, Joint contracture of the 5th finger, Scoliosis, Scapular w... OMIM:617258
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, 3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Myopathy, Distal, With Anterior Tibial Onset
Elevated circulating creatine kinase concentration, Myopathy OMIM:606768
Myopathy, X-Linked, With Excessive Autophagy
Scoliosis, Muscle fiber necrosis, Elevated circulating creatine kinase concentration, Skeletal mu... OMIM:310440
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El... OMIM:300835
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Dilated cardiomyopathy, ... OMIM:611615
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Scoliosis, Rimmed vacuoles, Elevated circulating creatine kinase concentration, Failure to thrive... OMIM:619518
Zebra Body Myopathy
Muscle fiber splitting, Torticollis, Rimmed vacuoles, Autophagic vacuoles, EMG: myopathic abnorma... ORPHA:97240
Bleeding Disorder, Platelet-Type, 19
Spontaneous hematomas, Abnormal bleeding, Anemia, Menorrhagia, Thrombocytopenia, Epistaxis, Macro... OMIM:616176
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Congenital Disorder Of Glycosylation, Type Iid
Elevated circulating creatine kinase concentration, Decreased muscle mass, Myopathy OMIM:607091
Severe X-Linked Mitochondrial Encephalomyopathy
Tongue fasciculations, Increased serum pyruvate, Involuntary movements, Increased variability in ... ORPHA:238329
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Oculopharyngeal Muscular Dystrophy 1
Ragged-red muscle fibers, Facial palsy, Elevated circulating creatine kinase concentration, Limb ... OMIM:164300
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... OMIM:619126
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Kyphosis, Generalized amyotrophy, Flexion contracture, Myopathy OMIM:618323
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Hepatomegaly, Decreased circulating carnitine concentration, R... ORPHA:254864
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers, Fascicul... ORPHA:324581
Castleman Disease
Jaundice, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Myelofibrosis, Abdominal mass, Th... ORPHA:160
Distal Nebulin Myopathy
Ankle flexion contracture, Cardiomyopathy, EMG: myopathic abnormalities, Weakness of the intrinsi... ORPHA:399103
Myh9-Related Disease
Neutrophil inclusion bodies, Giant platelets, Spontaneous, recurrent epistaxis, Increased mean pl... ORPHA:182050
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Scoliosis, Hyperlordos... OMIM:253700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Elevated circulating cr... OMIM:253601
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Endocardial fibrosis OMIM:235550
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration, Myopathy ORPHA:88635
Congenital Myopathy 6 With Ophthalmoplegia
Muscle fiber inclusion bodies, Scoliosis, Scapular winging, Congenital contracture, Increased var... OMIM:605637
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Muscle fiber splitting, Facial palsy, Limb muscle weakness, Increased variability in muscle fiber... OMIM:616313
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Renal cyst, Hypertrophic cardiomyopathy, Hepatosplen... OMIM:619902
Congenital Myasthenic Syndromes With Glycosylation Defect
Ragged-red muscle fibers, Scoliosis, Scapular winging, Facial palsy, Muscle fiber tubular inclusi... ORPHA:353327
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Storage Pool Platelet Disease
Acute leukemia, Prolonged bleeding time, Abnormal bleeding, Decreased mean platelet volume OMIM:185050
Congenital Myopathy 4B, Autosomal Recessive
Distal lower limb muscle weakness, Scoliosis, Facial diplegia, EMG: myopathic abnormalities, Nema... OMIM:609284
Acquired Idiopathic Sideroblastic Anemia
Abnormal megakaryocyte morphology, Normochromic anemia, Anemia of inadequate production, Bone mar... ORPHA:75564
Myasthenic Syndrome, Congenital, 17
Type 1 muscle fiber predominance OMIM:616304
Quebec Platelet Disorder
Impaired epinephrine-induced platelet aggregation, Menorrhagia, Joint hemorrhage, Thrombocytopeni... OMIM:601709
Dna2-Related Mitochondrial Dna Deletion Syndrome
Hyperlordosis, Elevated creatine kinase after exercise, Limb-girdle muscle weakness, Slender buil... ORPHA:352470
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia, Abnormal platelet aggregation OMIM:614171
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Type 1 muscle fiber predominance, Shoulder flexion contracture, Tremor, Nemaline bodies, Hip cont... OMIM:605355
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Rigid Spine Syndrome
Scoliosis, Elbow flexion contracture, Hyperlordosis, Hamstring contractures, Hip contracture, Ske... ORPHA:97244
Muscle Filaminopathy
Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Scapul... ORPHA:171445
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Autophagic vacuoles, EMG: myopathic abnormalities, Tremor, Elevated circulating ... OMIM:619790
Mitochondrial Complex I Deficiency, Nuclear Type 25
Failure to thrive, Myopathy, Nemaline bodies OMIM:618246
Myopathy, Centronuclear, 5
Centrally nucleated skeletal muscle fibers, Hip contracture, Weakness of facial musculature, Dila... OMIM:615959
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Ankle flexion contracture, Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Elevated circu... ORPHA:280333
Myopathy And Diabetes Mellitus
Babinski sign, Progressive cerebellar ataxia, Weakness of orbicularis oculi muscle, Frequent fall... ORPHA:2596
Myasthenic Syndrome, Congenital, 5
Scoliosis, Hyperlordosis, Limb muscle weakness, Decreased muscle mass, Type 1 muscle fiber predom... OMIM:603034
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Positive Romberg sign, Impaired distal vibration sensation, Gait ataxia, Centrally nucleated skel... OMIM:607459
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations, Distal amyotrophy, Tremor, Spinal muscular atrophy, Proximal amyotrophy OMIM:182980
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Tongue fasciculations, Tetraplegia, Increased serum pyruvate, Involunta... OMIM:300816
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Ataxia, Myopathy ORPHA:2579
Glutamate-Cysteine Ligase Deficiency
Jaundice, Reticulocytosis, Hepatosplenomegaly, Ataxia, Myopathy, Hemolytic anemia ORPHA:33574
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism OMIM:183350
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Babinski sign, Proximal muscle weakness in upper limbs, Lower limb spasticity, Fasciculations, Sp... OMIM:613954
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Positive Romberg sign, Impaired distal vibration sensation, Cardiomyopathy, Gait ataxia, Rigidity... OMIM:258450
Laing Early-Onset Distal Myopathy
Scoliosis, Weakness of orbicularis oculi muscle, EMG: myopathic abnormalities, Abnormal mitochond... ORPHA:59135
Autosomal Recessive Centronuclear Myopathy
Abnormal heart valve morphology, Facial diplegia, Facial palsy, Scapular winging, Hyperlordosis, ... ORPHA:169186
X-Linked Centronuclear Myopathy
Type 1 fibers relatively smaller than type 2 fibers, Centrally nucleated skeletal muscle fibers, ... ORPHA:596
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Muscle fiber necrosis, Elevated circulating creatine kinase concentration, Li... OMIM:616812
Distal Myotilinopathy
Distal amyotrophy, Cardiomyopathy, Elevated circulating creatine kinase concentration, EMG: myopa... ORPHA:98911
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Cardiomyopathy, Increased variability in muscle... OMIM:613752
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Severe short stature, Acrocyanosis OMIM:302000
Myopathy, Myofibrillar, 6
Muscular dystrophy, Distal sensory impairment, Scoliosis, Diaphragmatic paralysis, Facial palsy, ... OMIM:612954
Myopathy, Distal, 3
Muscular dystrophy, Distal amyotrophy, Rimmed vacuoles, Split hand, EMG: myopathic abnormalities,... OMIM:610099
Bernard-Soulier Syndrome
Abnormal megakaryocyte morphology, Hematemesis, Gastrointestinal hemorrhage, Spontaneous hematoma... ORPHA:274
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Hypertrophic cardiomyopathy, Failure to thrive, Dystonia, Flexion contracture, Spastic ... OMIM:618237
Duane Anomaly-Myopathy-Scoliosis Syndrome
Scoliosis, Myopathy ORPHA:50817
Congenital Myopathy 2A, Typical, Autosomal Dominant
Hypertonia, Scoliosis, Hyperlordosis, Facial palsy, EMG: myopathic abnormalities, Nemaline bodies... OMIM:161800
Isolated Glycerol Kinase Deficiency
Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis, Myopathy ORPHA:408
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Hepatomegaly, Decreased circulating carnitine concentration, R... OMIM:500009
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Spastic gait, Elevated circulating creatine kinase concentration... ORPHA:972
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Muscle fiber splitting, Calf muscle hypertrophy, Rimmed vacuoles, Scapular winging, Elevated circ... OMIM:603689
Striatonigral Degeneration, Infantile, Mitochondrial
Babinski sign, Ragged-red muscle fibers, Chorea, Incoordination, Lingual dystonia, Poor motor coo... OMIM:500003
Mitochondrial Myopathy And Sideroblastic Anemia
Generalized limb muscle atrophy, Anemia, Scoliosis, Kyphosis, Myopathy ORPHA:2598
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Hyperalaninemia, Skeletal muscle atrophy, Myopathy ORPHA:2597
Myopathy, Myofibrillar, 2
Muscle fiber splitting, Muscular dystrophy, Fasciculations, EMG: myopathic abnormalities, Elevate... OMIM:608810
Gombo Syndrome
Delayed puberty, Microphthalmia OMIM:233270
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Angulated muscle fibers, Scapular winging, Shoulder girdle muscle weakness, Weakness of facial mu... OMIM:619477
Congenital Amegakaryocytic Thrombocytopenia
Decreased skull ossification, Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Hermansky-Pudlak Syndrome 3
Abnormal bleeding, Impaired platelet aggregation, Spontaneous, recurrent epistaxis, Gingival blee... OMIM:614072
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Weakness of the intrinsic hand muscles, Limb-girdle muscle weaknes... ORPHA:178400
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy, Asymmetric septal hypertrophy OMIM:212130
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Ragged-red muscle fibers, Scoliosis, Elevated circulating creatine kinase concentration, Frequent... OMIM:618416
Autosomal Dominant Centronuclear Myopathy
Large for gestational age, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, Abno... ORPHA:169189
Acetyl-Coa Carboxylase-Alpha Deficiency
Myopathy OMIM:613933
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Distal sensory impairment, Hammertoe, Distal amyotrophy, Scoliosis, Upper limb muscle weakness, L... OMIM:608340
Congenital Myopathy 10B, Mild Variant
Increased endomysial connective tissue, Generalized limb muscle atrophy, Type 1 and type 2 muscle... OMIM:620249
Leber Hereditary Optic Neuropathy
Postural tremor, Ataxia, Myopathy ORPHA:104
Spinal Muscular Atrophy, X-Linked 2
Tongue fasciculations, Scoliosis, Facial palsy, Spinal muscular atrophy, Elevated circulating cre... OMIM:301830
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Dysplastic granulopoesis, Thrombocytopenia, Bone marrow arrest at the ... OMIM:620534
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Hyperlordosis, Kyphosis, Limb-girdle muscular dystrophy, Myopathy, Proximal... ORPHA:98855
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Elevated circulating creatine kinase concentration, Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Miyoshi Muscular Dystrophy 1
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Elevated ... OMIM:254130
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ... OMIM:619802
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Hyperlordosis, Kyphosis, Limb-girdle muscular dystrophy, Myopathy, Proximal... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Hyperlordosis, Kyphosis, Limb-girdle muscular dystrophy, Myopathy, Proximal... ORPHA:98853
X-Linked Charcot-Marie-Tooth Disease Type 3
Distal upper limb amyotrophy, Distal amyotrophy, Scoliosis, Tremor, Hand muscle weakness, Intrins... ORPHA:101077
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Tongue fasciculations, Spasticity, Failure to thrive, Dystonia, Ataxia, Skeletal muscle atrophy, ... OMIM:618276
Scapuloperoneal Myopathy, X-Linked Dominant
Scapular winging, Elevated circulating creatine kinase concentration, Scapuloperoneal myopathy, M... OMIM:300695
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Abnormal bleeding, Thrombocytopenia, Splenomegaly, Bruising susce... ORPHA:231401
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Calf muscle... OMIM:618138
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con... OMIM:616050
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Patent foramen ovale, Hyperlordosis, Elevated circulating creatine kinase concentration, Generali... OMIM:615156
Factor V Deficiency
Prolonged prothrombin time, Abnormal bleeding, Menorrhagia, Epistaxis, Bruising susceptibility, P... OMIM:227400
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Skeletal muscle fibrosis, Myofibrillar myopathy, Increased variability in muscle... ORPHA:34516
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Petechiae, Re... OMIM:619374
Spinocerebellar Ataxia, Autosomal Recessive 21
Limb ataxia, Hepatomegaly, Distal sensory impairment, Impaired pain sensation, Spasticity, Tremor... OMIM:616719
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Kyphoscoliosis, Elevated circulating creatine kinase concentration, Skeletal muscle atrophy, Brui... ORPHA:300179
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Hyperlordosis, Kyphosis, Limb-girdle muscular dystrophy, Myopathy, Proximal... ORPHA:98863
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, Tibialis anterior muscle atrophy, Rimmed vacuoles, Cardiomyopathy, EMG: myopa... OMIM:600334
Myopathy, Myofibrillar, 4
Muscle fiber splitting, Autophagic vacuoles, EMG: myopathic abnormalities, Elevated circulating c... OMIM:609452
Adult-Onset Distal Myopathy Due To Vcp Mutation
Abnormality of the musculature of the lower limbs, Necrotizing myopathy, Fasciculations, Rimmed v... ORPHA:329478
Hermansky-Pudlak Syndrome 7
Impaired platelet aggregation, Post-partum hemorrhage, Menorrhagia, Epistaxis, Bruising susceptib... OMIM:614076
Trimethylaminuria
Trimethylaminuria, Anemia, Depression, Splenomegaly, Neutropenia OMIM:602079
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Menorrhagia, Thrombocy... OMIM:614074
Bilateral Striopallidodentate Calcinosis
Abnormality of the liver, Subcutaneous hemorrhage, Hepatomegaly, Thrombocytopenia ORPHA:1980
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Distal lower limb muscle weakness, Distal sensory impairment, Hammertoe, Impaired pain sensation,... OMIM:607684
Neuropathy, Ataxia, And Retinitis Pigmentosa
Ataxia, Myopathy OMIM:551500
Congenital Myopathy 14
Knee flexion contracture, Abnormal circulating creatine kinase concentration, Elbow flexion contr... OMIM:618414
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Distal amyotrophy, Tremor, Spasticity, Frequent falls... OMIM:607317
Lethal Congenital Contracture Syndrome 5
Elevated circulating creatine kinase concentration, Retinal hemorrhage, Congenital contracture, C... OMIM:615368
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Failure to thrive, Neutrophilia, Thrombocytopenia, Splenomeg... OMIM:226990
Dpm3-Cdg
Muscular dystrophy, Babinski sign, Calf muscle hypertrophy, Rimmed vacuoles, Elevated creatine ki... ORPHA:263494
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hypertonia, Cardiomyopathy, Failure to thrive, Dystonia, Elevated circulating acylcarnitine conce... ORPHA:26792
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Kyphoscoliosis, Babinski sign, Ankle flexion contracture, Proximal muscle weakness in upper limbs... OMIM:616668
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Ragged-red muscle fibers, Scapular winging, Elevated circulating creatine kinase concentration, S... OMIM:617069
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Polycythemia Vera
Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Increased circulating h... OMIM:263300
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation, Bruising susceptibility OMIM:605735
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Hypertrop... OMIM:615382
Immunodeficiency 53
Recurrent urinary tract infections, Neutrophilia, Impaired lymphocyte transformation with phytohe... OMIM:617585
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Weakness of facial musculature, ... OMIM:620265
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Reduced muscle fiber merosin, Calf muscle hypertrophy, Scoliosis, Elevated ci... ORPHA:34515
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Bruising susceptibility, Prolonge... OMIM:137560
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Roussy-Lévy Syndrome
Kyphoscoliosis, Babinski sign, Limb ataxia, Genu valgum, Postural tremor, Somatic sensory dysfunc... ORPHA:3115
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Distal lower limb muscle weakness, Dysdiadochokinesis, Thenar muscle atrophy, Fiber type grouping... OMIM:619903
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Abnormal bone marrow... ORPHA:100024
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy OMIM:616314
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, EMG: myopathic abnormalities, Mildly elevated creatine kinase, Increased variability in m... ORPHA:397744
Amyotrophic Lateral Sclerosis 21
Distal lower limb muscle weakness, Distal sensory impairment, Rimmed vacuoles, Elevated circulati... OMIM:606070
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, Splenomegaly, T lymphocytopenia OMIM:608971
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Myopathy ORPHA:366
Congenital Myopathy 22A, Classic
Ragged-red muscle fibers, Scoliosis, Scapular winging, Congenital finger flexion contractures, Li... OMIM:620351
Nemaline Myopathy 5C, Autosomal Dominant
Pelvic girdle muscle weakness, Scoliosis, Hyperlordosis, Scapular winging, Nemaline bodies, Slend... OMIM:620389
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Myopathy, Hemolytic anemia, Reti... OMIM:230450
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Ventricular septal defect, Myopathy OMIM:616816
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi... ORPHA:158057
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Distal sensory impairment, Hammertoe, Distal amyotrophy, Tremor, Elevated circulating creatine ki... OMIM:618387
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Muscular dystrophy, Hepatomegaly, Skeletal muscle hypertrophy, Scoliosis, H... OMIM:613327
Congenital Myopathy 16
Scoliosis, Scapular winging, EMG: myopathic abnormalities, Tongue tremor, Flexion contracture, Po... OMIM:618524
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Glycogen Storage Disease Iii
Hepatomegaly, Distal amyotrophy, Ventricular hypertrophy, Hyperlipidemia, Elevated circulating cr... OMIM:232400
Blue Rubber Bleb Nevus
Prolonged bleeding time, Microcytic anemia, Intestinal bleeding ORPHA:1059
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities OMIM:609283
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Scoliosis, Distal upper limb amyotrophy, Tremor, Kyphosis, Ataxia, Dista... ORPHA:101075
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle... OMIM:310300
Congenital Muscular Dystrophy Without Intellectual Disability
Kyphoscoliosis, Muscular dystrophy, Fatty replacement of skeletal muscle, Limb-girdle muscle atro... ORPHA:370980
Ethanolaminosis
Cardiomegaly OMIM:227150
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Muscular dystrophy, Calf muscle hypertrophy, Facial palsy, EMG: myopathic abnormalities, Elevated... OMIM:611307
Fingerprint Body Myopathy
Myopathy OMIM:305550
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:610539
Aplasia Cutis Congenita
Abnormality of bone mineral density, Prolonged bleeding time ORPHA:1114
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Hyperlordosis, Flexion contracture, Skeletal muscle atrophy, Myopathy ORPHA:157973
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Elevated circulating creati... OMIM:160120
Combined Oxidative Phosphorylation Deficiency 31
Hypertonia, Hyperalaninemia, Hypertrophic cardiomyopathy, Increased variability in muscle fiber d... OMIM:617228
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Calf muscle hypertrophy, Elbow flexion contracture, Thoracic kyphosis, Elevated circulating creat... ORPHA:206546
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Muscular dystrophy, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Hyperlordosis, Elevated... OMIM:613157
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Megakaryocyte dysplasia, Pancytopenia, Increased mean corpuscular... OMIM:619041
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance, Facial palsy, Talipes equinovarus ORPHA:178145
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ragged-red muscle fibers, Abnormality of extrapyramidal motor function, Athetosis, Dystonia, Ataxia OMIM:615159
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Scoliosis, Kyphosis, Hypertrophic cardiomyopathy,... OMIM:618234
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... OMIM:617514
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Muscular dystrophy, Hyperlipidemia, Elevated circulatin... OMIM:615980
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Babinski sign, Hypertonia, Distal sensory impairment, Hammertoe, Scoliosis, Distal amyotrophy, Tr... OMIM:609260
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Hyperlordosis, Congenital finger flexion contractures, Kyphosis, Adducted thumb, ... ORPHA:536516
Primary Myelofibrosis
Abnormal megakaryocyte morphology, Abnormal bleeding, Hepatomegaly, Anemia, Thrombocytosis, Lymph... ORPHA:824
Refractory Anemia
Normocytic anemia, Abnormal bleeding, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemi... ORPHA:98826
Ullrich Congenital Muscular Dystrophy 1A
Muscular dystrophy, Reduced muscle collagen VI, Torticollis, Scoliosis, Facial palsy, Muscle fibe... OMIM:254090
Acute Myelomonocytic Leukemia
Abnormal bleeding, Anemia, Leukocytosis, Thrombocytopenia, Eosinophilia ORPHA:517
Spinocerebellar Ataxia With Epilepsy
Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Hyperalaninemia, Gait ataxia, Dystonia... ORPHA:254881
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Brachydactyly, Aplasia of the middle phalanx of the hand, Dilated cardiomyopathy, Cli... OMIM:610140
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Spinocerebellar Ataxia 18
Babinski sign, Dysdiadochokinesis, Tremor, Limb muscle weakness, Skeletal muscle atrophy, Progres... OMIM:607458
Myopathy, Myofibrillar, 7
Talipes equinovarus, Shoulder flexion contracture, Type 2 muscle fiber predominance, Elbow flexio... OMIM:617114
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Impaired platelet aggregation, Menorrhagia, Joint hemorrhage, Epista... OMIM:193400
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Spasticity, Ataxia, Myopathy OMIM:125250
Bleeding Disorder, Platelet-Type, 20
Bruising susceptibility, Menorrhagia, Thrombocytopenia, Epistaxis OMIM:616913
Von Willebrand Disease, Type 2
Bruising susceptibility, Menorrhagia, Thrombocytopenia, Epistaxis OMIM:613554
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Increased variability in muscle fiber diameter, Failure to thrive, Hypertrophic car... OMIM:614096
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Distal sensory impairment, Elevated circulating creatine kinase concentration, Kyphosis, Increase... OMIM:151800
Mcleod Syndrome
Hepatomegaly, Impaired vibration sensation at ankles, Reduced haptoglobin level, Chorea, Cardiomy... OMIM:300842
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Congenital Myopathy 23
Kyphoscoliosis, Facial diplegia, Scapular winging, Nemaline bodies, Limb muscle weakness, Skeleta... OMIM:609285
Nemaline Myopathy 8
Facial palsy, Flexion contracture, Nemaline bodies, Myofibrillar myopathy OMIM:615348
Pyknoachondrogenesis
Stillbirth OMIM:265880
Infantile-Onset X-Linked Spinal Muscular Atrophy
Kyphoscoliosis, Ankle flexion contracture, Weakness of facial musculature, Inflammatory myopathy,... ORPHA:1145
Myopathy With Lactic Acidosis, Hereditary
Anemia, Elevated circulating creatine kinase concentration, Frequent falls, Sideroblastic anemia,... OMIM:255125
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Hepatomegaly, Anemia, Increased bone mineral density, Petechiae, Reticulocytosis, ... OMIM:611490
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, EMG: myopathic abnormalities, Elevated creatine kinase after exercise, Skeletal myo... ORPHA:57
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Scoliosis, Tremor, Kyphosis, Ataxia, Skeletal muscle atrophy ORPHA:101078
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness OMIM:605809
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:253300
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Anemia, Myeloproliferati... ORPHA:3260
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, EMG: myopathic abnormalities, Elevated circulating cre... OMIM:123320
Marinesco-Sjögren Syndrome
Muscular dystrophy, Hypertonia, Abnormal metacarpal morphology, Abnormal circulating creatine kin... ORPHA:559
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hepatomegaly ORPHA:79281
Von Willebrand Disease
Gastrointestinal hemorrhage, Muscle hemorrhage, Petechiae, Abnormal platelet function, Menorrhagi... ORPHA:903
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Rhabdomyolysis, Skeletal muscle atrophy, Elevated circulating creatine ... OMIM:617070
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly, Lymphoid hyperplasia, Decreased circulating total IgM, Decr... OMIM:616452
Acquired Partial Lipodystrophy
Lymphocytosis, Hepatic steatosis, Myopathy ORPHA:79087
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Bone Marrow Failure Syndrome 2
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Transcobalamin Deficiency
Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... ORPHA:859
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscle fiber splitting, Muscular dystrophy, Rimmed vacuoles, Facial palsy, Elevated circulating c... OMIM:603511
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Cardiomyopathy, Elevated circulating creatine kinase concentration, Incr... ORPHA:119
Roch-Leri Mesosomatous Lipomatosis
Purpura, Thrombocytopenia ORPHA:529
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ragged-red muscle fibers, Elevated circulating creatine kinase concentration, Kyphosis, Generaliz... ORPHA:352447
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Immunodeficiency 15B
Failure to thrive, Monocytosis, Reduced natural killer cell count OMIM:615592
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Tetraparesis, Spasticity, Tremor, Poor motor coord... ORPHA:363400
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Kyphoscoliosis, Distal amyotrophy, Tremor, Ataxia OMIM:619099
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Forsythe-Wakeling Syndrome
Thrombocytopenia, Osteoporosis OMIM:613606
Prothrombin Deficiency, Congenital
Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Menorrhagia, Joint he... OMIM:613679
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Myasthenic Syndrome, Congenital, 12
Ragged-red muscle fibers, Proximal amyotrophy, Facial palsy, Mildly elevated creatine kinase OMIM:610542
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,... OMIM:620565
Spastic Paraplegia Type 7
Spastic gait, Babinski sign, Ragged-red muscle fibers, Scoliosis, Impaired vibration sensation in... ORPHA:99013
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Progressive distal muscular atrophy, Tongue fasciculations, Scoliosis, Tremor, Facial palsy, Spin... OMIM:159950
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Ragged-red muscle fibers, Hemiparesis, Myopathy, Left ventricular hypertrophy OMIM:540000
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Thyrocerebrorenal Syndrome
Abnormality of the musculature of the limbs, Nonprogressive cerebellar ataxia, Thrombocytopenia, ... ORPHA:3327
Gm1-Gangliosidosis, Type Iii
Hepatomegaly, Anterior beaking of lumbar vertebrae, Scoliosis, Kyphosis, Dystonia, Ataxia, Spleno... OMIM:230650
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time, Abnormality of the lymphatic system ORPHA:638
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Immunodeficiency 102
Hepatomegaly, Anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, De... OMIM:301082
Amish Nemaline Myopathy
Shoulder flexion contracture, Tremor, EMG: myopathic abnormalities, Hip contracture, Proximal amy... ORPHA:98902
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Muscular dystrophy, Calf muscle hypertrophy, Hyperlordosis, Facial palsy, EMG: myopathic abnormal... OMIM:606612
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Rhabdomyolysis, Ataxia, Erythroid hyperplasia, Myopathy, Hemolytic anemia OMIM:300653
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Calf muscle hypertrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyopa... OMIM:609308
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Scoliosis, Kyphosis, Flexion contracture, Minicore myopathy, Arthrogryposis multiplex congenita, ... ORPHA:178148
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Kyphoscoliosis, Muscular dystrophy, Elevated circulating creatine kinase concentration, Flexion c... OMIM:607855
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr... OMIM:619846
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Babinski sign, Hypertonia, Limb ataxia, Spastic dysarthria, Impaired proprioception... ORPHA:251282
Spinocerebellar Ataxia 28
Limb ataxia, Babinski sign, Ragged-red muscle fibers, Spasticity, Gait ataxia, Lower limb hyperto... OMIM:610246
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Howell-Jolly bodies, Death in childhood, Increased circulating interleukin 10 concentration OMIM:613759
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Prolonged prothrombin time, Cirrhosis, Hepatomegaly, Ascites, Portal hypertension, Failure to thr... ORPHA:367
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cachexia, Elevated circulating creatine kinase concentration, Hyperammonemia, Decre... ORPHA:42
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Broad thumb, Pulmonic stenosis, Leukopenia, Splenomegaly, Lymphopenia, Clinodac... OMIM:612541
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Typical Nemaline Myopathy
Genu valgum, Scoliosis, Facial diplegia, Facial palsy, Hyperlordosis, Nemaline bodies, Arthrogryp... ORPHA:171436
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Muscle fiber splitting, Muscular dystrophy, Anemia, Increased variability in muscle fiber diamete... OMIM:226670
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, Elevated circulating C-reactive protein concentration, Clubb... OMIM:620632
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Tremor, Facial palsy, Elevated circulating creatine kinase... OMIM:619424
Thyrocerebroretinal Syndrome
Ataxia, Thrombocytopenia, Skeletal muscle atrophy, Myoclonus, Slurred speech OMIM:274240
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Tremor, Reticulocytosis, Decreased hemoglobin concentration, Rhabdomyolysis, ... ORPHA:713
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Sitosterolemia 1
Abnormal bleeding, Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregati... OMIM:210250
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Abnormal circulating creatine kinase concentration, Type 1 muscle fibe... OMIM:617519
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis, Hepatomegaly, Abnormal lymph node morphology, Anemia, Abnormal bleeding, Petechiae... OMIM:612840
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Elevated circulating C-reactive protein concentr... OMIM:619644
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L... OMIM:615615
Spastic Paraplegia 17, Autosomal Dominant
Spastic gait, First dorsal interossei muscle atrophy, Babinski sign, Lower limb spasticity, Impai... OMIM:270685
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Torticollis, Writer's cramp, Transient hyperphenylalaninemia, Restin... OMIM:128230
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:611722
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Distal amyotrophy, Tremor, Vocal cord paralysis OMIM:158580
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Phosphoserine Aminotransferase Deficiency
Hyposerinemia, Cyanotic episode, Hypoglycinemia, Death in infancy OMIM:610992
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Decreased proportion of class-switched memory ... OMIM:618944
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Facial palsy, Elevated circulating creatine kinase concentration, Dilated car... OMIM:602541
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells OMIM:618982
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter, Athetosis, Chorea, Myoclonus OMIM:617235
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Congenital Factor Ii Deficiency
Prolonged prothrombin time, Abnormal bleeding, Cephalohematoma, Anemia, Excessive bleeding from s... ORPHA:325
Kimura Disease
Follicular hyperplasia, Eosinophilia, Lymphadenopathy ORPHA:482
Immune-Mediated Necrotizing Myopathy
Myocarditis, Myositis, Scapular winging, EMG: myopathic abnormalities, Muscle fiber necrosis, Ele... ORPHA:206569
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Neutropenia OMIM:603552
Nanophthalmos 4
Microphthalmia OMIM:615972
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Failure to thrive, Myopathy, Hypertrophic cardiomyopathy ORPHA:91130
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:616081
Adult Acute Respiratory Distress Syndrome
Respiratory failure, Abnormality of tumor necrosis factor secretion, Abnormal circulating interle... ORPHA:70578
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter, Ataxia, Gait ataxia OMIM:617915
Glycogen Storage Disease Ixd
Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Distal amyotr... OMIM:300559
X-Linked Immunoneurologic Disorder
Hemiplegia/hemiparesis, Hypertonia, Myopathy ORPHA:2571
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:1802
Glycogen Storage Disease Xii
Muscle fiber splitting, Normocytic anemia, Jaundice, Anemia, Decreased erythrocyte fructose-1,6-b... OMIM:611881
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia, Abnormal blood phosphate concentration, Postnatal growth retardation OMIM:615361
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Scoliosis, Spinal muscular atrophy, Skeletal muscle atrophy, Weakness of facial musculature, Fail... ORPHA:254875
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Fasciculations, Rimmed vacuoles, Hyperlordosis, EMG: myopathic abnormalities, Upper motor neuron ... ORPHA:52430
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Babinski sign, Impaired proprioception, Progressive cerebellar ataxia, Spastic dysarthria, Lower ... ORPHA:352641
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Muscular dystrophy, Ankle flexion contracture, Hypoglycosylation of alpha-dystroglycan, Elevated ... OMIM:613818
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Splenomega... OMIM:256550
Acyl-Coa Dehydrogenase 9 Deficiency
Prolonged prothrombin time, Cerebellar hemorrhage, Decreased circulating carnitine concentration,... ORPHA:99901
Nanophthalmos
Microphthalmia ORPHA:35612
Thrombocytopenia 2
Abnormal platelet shape, Leukocytosis, Increased megakaryocyte colony forming unit count, Thrombo... OMIM:188000
Scapuloperoneal Spinal Muscular Atrophy
Muscle fiber splitting, Peroneal muscle weakness, Distal sensory impairment, Torticollis, Amyopla... OMIM:181405
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Hypomimic face, Babinski sign, Bradykinesia, Oromandibular dystonia, Scissor gait, Scoliosis, Tre... ORPHA:521406
Hemophilia B
Cephalohematoma, Spontaneous, recurrent epistaxis, Delayed onset bleeding, Joint hemorrhage, Intr... ORPHA:98879
Congenital Varicella Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:291
Congenital Myopathy 15
Vocal cord paralysis, Camptodactyly, Increased variability in muscle fiber diameter, Weakness of ... OMIM:620161
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hypertonia, Elevated circulating creatine kinase concentration, Exercise-induced rh... OMIM:154276
Spastic Paraplegia 5A, Autosomal Recessive
Spastic gait, Babinski sign, Lower limb spasticity, Lower limb amyotrophy, Impaired distal propri... OMIM:270800
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hepatomegaly, Ragged-red muscle fibers, Hypertrophic cardiomyopathy, Sideroblastic anemia, Genera... OMIM:613561
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Distal amyotrophy, EMG: myopathic abnormalities, Upper limb muscle weakness, Extremely elevated c... ORPHA:99939
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Lymphadenopathy, Hemophagocytosis, Decreased circulating antibody level, Abnormal natural... OMIM:613101
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Babinski sign, Ragged-red muscle fibers, Truncal ataxia, Spasticity, Myoclonus, Abnormal mitochon... OMIM:252011
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Amyotrophic Lateral Sclerosis 27, Juvenile
Lower limb spasticity, Tongue fasciculations, Scoliosis, Hyperlordosis, Scapular winging, Intrins... OMIM:620285
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Muscular dystrophy, Babinski sign, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Elbow fl... OMIM:608840
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Macroglossia, Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Hyperkinetic movements, Chorea, Scoliosis, Truncal ataxia, Right ventricular dilatation, Limb-gir... ORPHA:369847
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Facial diplegia, EMG: myopathic abnormalities, Elevated circulating cre... OMIM:609560
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Increased circulating ferritin concentration, Impaired lymphocyte transform... OMIM:619313
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Decreased circulating carnitine concentration, Microvesicular hepatic steatosis, Re... OMIM:212140
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Calf muscle hypertrophy, Scapular winging, Lower limb mu... OMIM:616052
Optic Atrophy 11
Hyperkinetic movements, Facial diplegia, Athetosis, Gait apraxia, Bilateral talipes equinovarus, ... OMIM:617302
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Cardiomyopathy, Nemaline bodies, Thoracolumbar scoliosis, Flexio... OMIM:616549
Immunodeficiency 54
Hepatomegaly, Lymphadenopathy, Failure to thrive, Splenomegaly, Reduced natural killer cell count OMIM:609981
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Hemiplegia/hemiparesis, Ataxia, Skeletal muscle atrophy ORPHA:480
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly OMIM:607616
Hypophosphatasia, Childhood
Elevated plasma pyrophosphate, Bowing of the legs, Myopathy OMIM:241510
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Type 2 muscle fiber predominance, Tremor, Ataxia, Myoclonus, Dysmetria OMIM:619028
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Torticollis, Fasciculations, Distal amyotrophy, Tremor, Spasticity, Frequent falls... OMIM:611302
Pelger-Huet Anomaly
Polydactyly, Short 4th metacarpal, Giant platelets, Upper limb undergrowth, Ventricular septal de... OMIM:169400
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno... OMIM:615559
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Sea-Blue Histiocytosis
Abnormal bleeding, Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Petechiae, ... ORPHA:158029
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopathy, Hypertrophic cardiomyopathy ORPHA:1369
Cap Myopathy
Lower limb amyotrophy, Facial palsy, Frequent falls, Increased variability in muscle fiber diamet... ORPHA:171881
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abs... OMIM:150550
Isolated Succinate-Coq Reductase Deficiency
Babinski sign, Noncompaction cardiomyopathy, Distal amyotrophy, Spasticity, Spastic tetraparesis,... ORPHA:3208
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:613869
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly... OMIM:618986
Acute Lung Injury
Abnormal circulating cytokine concentration, Respiratory failure, Increased circulating interleuk... ORPHA:178320
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Skeletal muscle hypertrophy, Jaundice, Myopathy, Macroglossia ORPHA:2349
Congenital Multicore Myopathy With External Ophthalmoplegia
Internally nucleated skeletal muscle fibers, Muscular dystrophy, Tibialis anterior muscle atrophy... ORPHA:98905
Hyperkalemic Periodic Paralysis
Hyperkalemia, Hypertonia, Periodic hyperkalemic paralysis, Hypokalemia, Skeletal muscle hypertrop... ORPHA:682
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression, Decreased circulating ferritin concentration ORPHA:330054
Hypokalemic Periodic Paralysis
Respiratory paralysis, Mildly elevated creatine kinase, Episodic hypokalemia, Periodic hypokalemi... ORPHA:681
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, Petechiae, B Acute Lymphoblastic Leukemia, Thrombocyto... OMIM:616216
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Mildly elevated creatine kinase, Abnormal mitochondria in muscle tissue ORPHA:663
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells... OMIM:300853
Stormorken Syndrome
Abnormal bleeding, Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentratio... OMIM:185070
Mitochondrial Complex I Deficiency, Nuclear Type 14
Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy OMIM:618236
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Pulmonary hemorrhage... OMIM:603585
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytope... OMIM:308240
Juvenile Amyotrophic Lateral Sclerosis
Lower-limb joint contracture, Chorea, Cachexia, Head titubation, Ataxia, Opisthotonus, Hypertonia... ORPHA:300605
Congenital Muscular Dystrophy, Fukuyama Type
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion con... ORPHA:272
Triosephosphate Isomerase Deficiency
Normocytic anemia, Chronic hemolytic anemia, Jaundice, Myopathy, Normochromic anemia, Macrocytic ... OMIM:615512
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Petechiae, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia... OMIM:619463
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Aa Amyloidosis
Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Nephrotic syndrome... ORPHA:85445
Congenital Myopathy 24
Abnormal circulating creatine kinase concentration, Facial palsy, Scapular winging, Nemaline bodi... OMIM:617336
Snakebite Envenomation
Abnormal bleeding, Respiratory paralysis, Gingival bleeding, Muscle fiber necrosis, Hyponatremia,... ORPHA:449285
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent foramen ovale, Spinal muscular atrophy, Increased variability in muscle fiber diameter, Fl... OMIM:616867
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia, Abnormal bleeding OMIM:314000
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hepatomegaly, Reduced bone mineral density, Cholestasis, Splenomegaly, Abnormality of t... ORPHA:172
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Ulnar deviated club hands, Genu valgum, Abnormality of... ORPHA:166002
Abetalipoproteinemia
Kyphoscoliosis, Prolonged prothrombin time, Decreased HDL cholesterol concentration, Hypotriglyce... ORPHA:14
Ullrich Congenital Muscular Dystrophy 2
Kyphoscoliosis, Muscular dystrophy, Facial palsy, Increased variability in muscle fiber diameter,... OMIM:616470
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphoscoliosis, Left atrial enlargement, Increased circulating creatine kinase MB isoform, Skelet... OMIM:300280
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Elevated circulating creatine kinase concentration, Exercise-induced rhabdomyolysis... OMIM:154275
Beta-Thalassemia
Hepatomegaly, Anemia, Reduced bone mineral density, Cholelithiasis, Thrombocytopenia, Splenomegal... ORPHA:848
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Reduced natural killer cell count, Neutropenia OMIM:615214
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Hepatomegaly, Impaired ADP-induced platelet aggregation, Hepatosp... OMIM:608233
Mitochondrial Myopathy, Lethal, Infantile
Myopathy OMIM:551000
Hepatoportal Sclerosis
Prolonged prothrombin time, Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Ja... ORPHA:64743
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Axial dystonia, Scoliosis, Spastic paraplegia, Increased variability in muscle fiber diameter, Fl... OMIM:619026
Sialidosis Type 2
Hepatomegaly, Tremor, Ascites, Kyphosis, Ataxia, Flexion contracture, Splenomegaly, Skeletal musc... ORPHA:87876
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... OMIM:614493
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Knee flexion contracture, Tongue fasciculations, Scoliosis, Elbow flex... OMIM:619461
X-Linked Charcot-Marie-Tooth Disease Type 5
Skeletal muscle hypertrophy, Impaired pain sensation, Scoliosis, Tremor, Kyphosis, Paraparesis, A... ORPHA:99014
Congenital Toxoplasmosis
Hepatomegaly, Anemia, Lymphadenopathy, Cognitive impairment, Thrombocytopenia, Cardiomegaly ORPHA:858
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Splenomegaly, Increased circulating IgG level, Petechiae, Autoimmune... OMIM:603909
Parkinson Disease 15, Autosomal Recessive Early-Onset
Hypomimic face, Babinski sign, Bradykinesia, Scissor gait, Lower limb spasticity, Abnormality of ... OMIM:260300
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypertonia, Limb hypertonia, Tremor, Athetosis, Cardiomyopathy, Generalized amyotrophy, Dystonia,... OMIM:617710
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Increased variability in muscle fiber diameter, Proximal amyotrophy, Skeletal... OMIM:614302
Bethlem Muscular Dystrophy
Wrist flexion contracture, Limb-girdle muscle weakness, Quadriceps muscle weakness, Reduced muscl... ORPHA:610
Roussy-Levy Hereditary Areflexic Dystasia
Kyphoscoliosis, Distal sensory impairment, Hammertoe, Distal amyotrophy, Gait ataxia, Action trem... OMIM:180800
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal bone marrow cell mor... ORPHA:100026
Wiskott-Aldrich Syndrome
Hematemesis, Spontaneous hematomas, Abnormal platelet function, Abnormal platelet morphology, Epi... ORPHA:906
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Abnormal megakaryocyte morphology, Anemia of inadequate production, Poikilocytosis, Anisocytosis,... ORPHA:67044
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation OMIM:609054
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Ragged-red muscle fibers, Hyperalaninemia, EMG: myopathic abnormalities, Elevated circulating cre... OMIM:615418
Myofibrillar Myopathy 10
Ankle flexion contracture, Sandal gap, Elbow flexion contracture, EMG: myopathic abnormalities, K... OMIM:619040
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus, Hypertrophic cardiomyo... OMIM:615415
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Glycogen Storage Disease Vii
Increased muscle glycogen content, Jaundice, Cholelithiasis, Hyperuricemia, Elevated circulating ... OMIM:232800
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Pancreatitis, Abnormality of skeletal muscle fiber... ORPHA:79083
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Myopathy OMIM:300219
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Abnormality of skeletal muscle fiber size, Skel... ORPHA:2348
Leishmaniasis
Abnormal bleeding, Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, P... ORPHA:507
Charcot-Marie-Tooth Disease And Deafness
Distal sensory impairment, Hammertoe, Distal amyotrophy, Tremor, Split hand, Limb muscle weakness... OMIM:118300
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ragged-red muscle fibers, Cachexia, Slender build, Ataxia, Weight loss OMIM:613662
Adducted Thumbs Syndrome
Arthrogryposis multiplex congenita, Myopathy OMIM:201550
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Hepatomegaly, Abnormal bleeding, Gastrointestinal hemorrhage, Osteoporosis, ... ORPHA:79301
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Distal sensory impairment, Widening of cervical spinal canal, Fusion of midcervical facet joints,... OMIM:606842
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Distal sensory impairment, Oculomotor apraxia, Chorea, Scoliosis, Distal amyotrophy,... OMIM:208920
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Gingival bleeding, Retinal hemorrhage, Bone marrow hypoc... ORPHA:88
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Rickets of the lower limbs ORPHA:882
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation, Abnormal circulating eicosanoid concentration, Decreased serum thr... OMIM:618372
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Lymph node hypoplasia, Splenomegaly, Lymp... OMIM:602450
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Bradykinesia, Ragged-red muscle fibers, Resting tremor, Impaired distal proprioception, Parkinson... OMIM:157640
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia OMIM:615010
Sengers Syndrome
Thrombocytopenia, Myopathy, Hypertrophic cardiomyopathy OMIM:212350
Caribbean Parkinsonism
Bradykinesia, Apraxia, EMG: myopathic abnormalities, Action tremor, Rigidity, Dystonia, Parkinson... ORPHA:97355
Immunodeficiency 50
Recurrent urinary tract infections, Neutropenia, Lymphopenia OMIM:300988
Galactosemia Ii
Cataract, Prolonged neonatal jaundice, Galactosuria OMIM:230200
Postsynaptic Congenital Myasthenic Syndromes
Hip flexor weakness, Abnormality of masticatory muscle, Scoliosis, Thoracic kyphoscoliosis, Trice... ORPHA:98913
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy ORPHA:154
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Distal lower ... ORPHA:254361
Glycogen Storage Disease X
Elevated circulating creatine kinase concentration, Rhabdomyolysis, Myopathy OMIM:261670
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Babinski sign, Ragged-red muscle fibers, Positive Romberg sign, Elevated circulating creatine kin... OMIM:616479
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia ORPHA:2688
Classic Multiminicore Myopathy
Muscular dystrophy, Scoliosis, Generalized amyotrophy, Muscle fiber atrophy, Failure to thrive, R... ORPHA:324604
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Purpura,... ORPHA:809
Immunodeficiency 27A
Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged mesenteric lymp... OMIM:209950
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Decreased circulating ceruloplasmin concentra... OMIM:616828
Intermediate Nemaline Myopathy
Facial diplegia, Facial palsy, EMG: myopathic abnormalities, Nemaline bodies, Arthrogryposis mult... ORPHA:171433
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Ascites, Internal hemorrhage, Prolonged bleeding time,... ORPHA:90308
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia, Ascites ORPHA:295
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:610333
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Impaired vibration sensation in the lower lim... OMIM:600363
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Increased serum pyruvate OMIM:616794
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Upper limb postural tremor, Tetraparesis, Involuntary movements ORPHA:477774
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Reduced circulating interleukin 22 concentratio... OMIM:619632
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Microphthalmia OMIM:616570
Muscular Dystrophy, Congenital, Lmna-Related
Proximal upper limb amyotrophy, Muscular dystrophy, Upper limb muscle weakness, Elevated circulat... OMIM:613205
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Splenomegaly, Cataract, Aminoaciduria ORPHA:79238
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Calf muscle hypertrophy, Scapular winging, Elevated circulating creatine kinase concentration, Pr... ORPHA:206559
Lethal Congenital Contracture Syndrome 9
Abnormality of the diaphragm, Thoracic kyphoscoliosis, Wrist flexion contracture, Congenital cont... OMIM:616503
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Fanconi Anemia, Complementation Group T
Anemia, Acute myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:616435
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Situs inversus totalis, ... OMIM:602088
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Myopathy With Extrapyramidal Signs
Hepatomegaly, Hypervalinemia, Abnormality of extrapyramidal motor function, Chorea, Calf muscle h... OMIM:615673
Myopathy, Mitochondrial, And Ataxia
Limb ataxia, Distal sensory impairment, Truncal ataxia, Scoliosis, Distal amyotrophy, Tremor, Dys... OMIM:617675
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:620481
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Anemia, Focal segmental glomerulosclerosis, Hypertrophic cardiomyo... OMIM:617303
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased muscle glycogen content, Progressive cerebellar ataxia, Weakness of facial musculature,... ORPHA:502423
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers, Elevated circulating creatine kinase concentration OMIM:619024
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Increased circulating interleukin 6 concentration, Abnormal natural ... OMIM:620430
Overlap Myositis
Abnormal circulating lipid concentration, Proximal muscle weakness in upper limbs, Distal lower l... ORPHA:206572
Pgm3-Cdg
Cortical myoclonus, Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti... ORPHA:443811
Immune Thrombocytopenia
Purpura, Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Thrombocytopenia, Epistaxis, ... ORPHA:3002
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Galactosemia Iv
Cataract, Prolonged neonatal jaundice, Hepatomegaly OMIM:618881
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Plantar flexion contracture, Diaphragmatic paralysis, Craniofacial dystonia, Frequent falls, Fibe... OMIM:620011
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Muscular dystrophy, Peroneal muscle weakness, Skeletal muscle hypertrophy, Hypoglycosylation of a... OMIM:611588
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Elevated circulating creatine kinase concentration, Clonus, Failure to thrive, Muscle fiber atrop... OMIM:620240
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Hepatomegaly, Increased serum pyruvate, Limb dystonia, Hypertrophic cardiomyopathy, Increased var... OMIM:604377
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Coombs-posi... OMIM:619375
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Rigidity, Myoclonus, Abnormality... ORPHA:98763
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia OMIM:618425
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Anemia, Pancytopenia, Hyperuricemia, Increased blood urea nitrogen, Hyponatremia, Failure to thri... OMIM:613845
Combined Oxidative Phosphorylation Deficiency 24
Ragged-red muscle fibers, Spasticity, Elevated circulating creatine kinase concentration, Skeleta... OMIM:616239
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Scoliosis, Tremor, Dystonia, Skeletal muscle atrophy ORPHA:330050
Aregenerative Anemia
Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Depression, Abnormal proportion of CD8-posit... ORPHA:101096
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Anemia, Leukemia, Neutropenia OMIM:614082
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Hemophagocytosis, Abnormal natural killer cell... ORPHA:158061
Congenital Disorder Of Glycosylation, Type Iik
Kyphoscoliosis, Diaphyseal dysplasia, Hepatomegaly, Elevated circulating creatine kinase concentr... OMIM:614727
Autosomal Dominant Optic Atrophy, Classic Form
Macrocytic anemia, Spasticity, Scapular winging, Spastic paraplegia, Hemiparesis, Ataxia, Skeleta... ORPHA:98673
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Immunodeficiency 43
Lung abscess, Hypoplasia of the ulna, B lymphocytopenia, Hypoproteinemia, Decreased circulating b... OMIM:241600
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Hepatomegaly, Cardiomyopathy, EMG: myopathic abnormalities, Abnormal granul... ORPHA:98907
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Hypoglycosylation of alph... ORPHA:352479
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:620282
Mitochondrial Dna Depletion Syndrome 11
Ragged-red muscle fibers, Facial palsy, Elevated circulating creatine kinase concentration, Kypho... OMIM:615084
Pseudo-Torch Syndrome 3
Acute kidney injury, Anemia, Lymphadenitis, Leukocytosis, Proteinuria, Cardiomegaly, Congenital t... OMIM:618886
Hermansky-Pudlak Syndrome 11
Gingival bleeding, Impaired collagen-induced platelet aggregation, Menorrhagia, Epistaxis, Bruisi... OMIM:619172
Ataxia-Pancytopenia Syndrome
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... OMIM:159550
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, P... ORPHA:98850
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... ORPHA:169154
Dystonia 11, Myoclonic
Tremor, Myoclonus, Torticollis, Writer's cramp OMIM:159900
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Generalized limb muscle atrophy, Ragged-red muscle fibers, Hyperlordosis, Scapular winging, Sider... OMIM:600462
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Distal sensory impairment, Tremor, Upper limb muscle weakness, Elevated circ... ORPHA:90117
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Monocytosis, Bone marrow hypocellularity, Leukopenia, Refractory anemia OMIM:616871
Gaucher Disease, Type Iii
Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Renal cy... OMIM:263200
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Scoliosis, Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Talipes equinovarus... OMIM:619752
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut... OMIM:615387
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai... ORPHA:276
Chylomicron Retention Disease
Impaired proprioception, Acanthocytosis, EMG: myopathic abnormalities, Failure to thrive, Hypocho... ORPHA:71
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly ORPHA:37748
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope... ORPHA:169079
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Primary Dystonia, Dyt13 Type
Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involuntary movements, Actio... ORPHA:98807
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the kidney, Liver abscess, Abnormal lymph node morphology, Anemia, Abnormality of ... ORPHA:54251
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Babinski sign, Distal lower limb muscle weakness, Distal lower limb amyotrophy, Impaired proprioc... OMIM:500013
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Spasticity, Atheto... OMIM:257200
Immune Dysregulation, Autoimmunity, And Autoinflammation
Anemia, Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 co... OMIM:620514
Myopathy Due To Myoadenylate Deaminase Deficiency
Rhabdomyolysis, Skeletal muscle atrophy, Myopathy OMIM:615511
Hemophagocytic Lymphohistiocytosis, Familial, 1
Prolonged prothrombin time, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Tetrap... OMIM:267700
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Wilson Disease
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Acute hepatitis, Increased body weight, Hepatitis, Fai... ORPHA:905
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Generalized limb muscle atrophy, Hepatomegaly, Chronic pancreatitis, Abnorm... ORPHA:98908
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Bone Marrow Failure Syndrome 4
Anemia, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocytopenia, Leuk... OMIM:618116
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Portal hypertension, Abnormality of the hepatic vasculature, Bone marrow hypocellularity, Thrombo... ORPHA:210136
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, S... OMIM:618495
Immunodeficiency 114, Folate-Responsive
Hepatomegaly, Megaloblastic anemia, Increased circulating IgE level, Decreased circulating IgG le... OMIM:620603
Specific Granule Deficiency 1
Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida... OMIM:245480
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Failure to thrive in infancy, Decreased proportion of CD4-positive helper T ce... OMIM:619510
Alpha-Heavy Chain Disease
Lymphadenopathy, Hepatomegaly, Anemia, Splenomegaly ORPHA:100025
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Petechiae, Anemia of inadequate production, Poikilocytosis, Epistaxis, Persistent bleeding after ... OMIM:300367
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia OMIM:600776
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Immunodeficiency 10
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte count, Splenomega... OMIM:612783
Immunodeficiency 57 With Autoinflammation
Perianal abscess, B lymphocytopenia, T lymphocytopenia, Failure to thrive, Reduced natural killer... OMIM:618108
Meckel Syndrome, Type 8
Pericardial effusion, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Immunodeficiency 9
Abnormal natural killer cell count, Hypoplasia of the thymus, Failure to thrive, Lymphopenia, Myo... OMIM:612782
Congenital Disorder Of Glycosylation, Type Ie
Muscular dystrophy, Ankle flexion contracture, Hepatomegaly, Patent ductus arteriosus, Upper limb... OMIM:608799
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Scoliosis, Cardiomyopathy, Failure to thrive, Ataxia, Flexion contracture, Weakness of facial mus... OMIM:201470
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Rimmed vacuoles, Hyperlipidemia, Elevated cir... ORPHA:565612
Indolent Systemic Mastocytosis
Hepatomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytosis, Splenomega... ORPHA:98848
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia OMIM:616738
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Scoliosis, Facial palsy, Limb muscle weakness, Weakness of facial musculature, Arthrogryposis mul... OMIM:608930
Thrombocytopenia 3
Abnormal megakaryocyte morphology, Decreased mean platelet volume, Petechiae, Epistaxis, Thromboc... OMIM:273900
Congenital Disorder Of Glycosylation, Type Iibb
Spasticity, Tremor, Failure to thrive, Skeletal muscle atrophy, Tetraparesis OMIM:620546
Cog4-Cdg
Cirrhosis, Limb hypertonia, Thrombocytopenia, Hepatosplenomegaly, Ataxia, Failure to thrive in in... ORPHA:263501
Microcephaly-Microcornea Syndrome, Seemanova Type
Growth delay, Microphthalmia, Short stature ORPHA:2528
Autosomal Dominant Optic Atrophy Plus Syndrome
Cardiomyopathy, Spastic paraplegia, Limb-girdle muscle weakness, Ataxia, Myopathy ORPHA:1215
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Ventricular hypertrophy, Cardiomyopathy, Elevated circulating creatine kinase conce... ORPHA:228305
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Kaposiform Lymphangiomatosis
Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma... ORPHA:464329
Ataxia-Telangiectasia
Spasticity, Tremor, Failure to thrive, Ataxia, Skeletal muscle atrophy, Lymphopenia, Aplasia/Hypo... ORPHA:100
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Anemia, Talipes equinovarus, Type 2 muscle fiber predominance, Elevated... OMIM:619743
Perching Syndrome
Cyanosis OMIM:617055
Immunodeficiency 32A
Granuloma, Lymphadenitis, Lymphadenopathy OMIM:614893
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis, Myopathy, Hypokalemia OMIM:170400
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Death in childhood, Respiratory insufficiency, Decreased circulating antibody level, Leukocytosis... OMIM:618042
Ataxia With Vitamin E Deficiency
Hypertonia, Scoliosis, Tremor, Dysdiadochokinesis, Hypertrophic cardiomyopathy, Hemiplegia/hemipa... ORPHA:96
Free Sialic Acid Storage Disease
Hepatomegaly, Oculomotor apraxia, Spasticity, Athetosis, Ascites, Ataxia, Splenomegaly, Aplasia/H... ORPHA:834
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Athetosis, Failure to thrive, Thrombocytopenia, Leukopeni... OMIM:229050
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Abnormality of skeletal muscle fiber size, Nemaline bodies, Joint contracture, Skeletal muscle at... OMIM:620278
Monomelic Amyotrophy
Fasciculations, Distal upper limb amyotrophy, Tremor ORPHA:65684
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Apraxia, Resting tremor, Incoordin... OMIM:615157
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Anemia, Cardiomyopathy, Hyperammonemia, Failure to thrive, Dystonia, ... ORPHA:79312
Pseudoachondroplasia
Abnormal form of the vertebral bodies, Skeletal myopathy, Metaphyseal irregularity, Shortening of... ORPHA:750
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Autosomal Dominant Progressive External Ophthalmoplegia
Facial diplegia, Gait ataxia, Rigidity, Ataxia, Left ventricular hypertrophy, Quadriceps muscle w... ORPHA:254892
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies OMIM:615426
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Combined Oxidative Phosphorylation Deficiency 17
Postnatal growth retardation, Death in childhood, Intrauterine growth retardation, Death in infancy OMIM:615440
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Distal amyotrophy, Tremor, Distal sensory impairment OMIM:607734
Fetal Gaucher Disease
Hypertonia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly... ORPHA:85212
Immunodeficiency 84
B lymphocytopenia, Splenomegaly, Perianal abscess OMIM:619437
Wiskott-Aldrich Syndrome
Hematemesis, Impaired lymphocyte transformation with phytohemagglutinin, Epistaxis, Lymphopenia, ... OMIM:301000
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Hepatomegaly, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal lymph node mo... ORPHA:911
Acute Promyelocytic Leukemia
Abnormal bleeding, Purpura, Anemia, Lymphadenopathy, Bone marrow hypercellularity, Pancytopenia, ... ORPHA:520
Fucosidosis
Spastic gait, Splenomegaly, Cardiomegaly, Hemiplegia, Coxa valga, Anterior beaking of thoracic ve... OMIM:230000
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Osteopetrosis, Anemia, Pancytopenia, Diaphyseal sclerosis, Decreased osteoc... OMIM:259710
Tufted Angioma
Purpura, Anemia, Petechiae, Megakaryocytopenia, Thrombocytopenia ORPHA:1063
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly OMIM:607685
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ragged-red muscle fibers, Increased serum pyruvate, Hypertrophic cardiomyopathy, Ataxia, Dilated ... ORPHA:1349
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Impaired platelet adhesion, Oral cavity bleeding, Menorrhagia, Joint... ORPHA:324636
Malaria
Thrombocytopenia, Anemia ORPHA:673
Tularemia
Cervical lymphadenopathy, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Confusion, Leukoc... ORPHA:3392
Propionic Acidemia
Cerebellar hemorrhage, Hepatomegaly, Pancreatitis, Anemia, Limb hypertonia, Pancytopenia, Cardiom... OMIM:606054
Combined Oxidative Phosphorylation Deficiency 18
Macrocytic anemia, Tremor, Skeletal muscle atrophy, Hypersegmentation of neutrophil nuclei, Dysme... OMIM:615578
Danon Disease
Lower limb amyotrophy, Myocardial necrosis, EMG: myopathic abnormalities, Elevated circulating cr... OMIM:300257
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
X-Linked Intellectual Disability, Hedera Type
Hypomimic face, Babinski sign, Apraxia, Scoliosis, Extrapyramidal muscular rigidity, Calcaneovalg... ORPHA:93952
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Abnormal bone marrow cell morphology, Portal hypertension, Portal vein thrombosis, ... OMIM:610293
Gaucher Disease Type 1
Increased circulating antibody level, Ascites, Leukopenia, Splenomegaly, Osteolysis, Abnormal ble... ORPHA:77259
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Babinski sign, Distal lower limb muscle weakness, Distal sensory impairment, Incoordination, Dist... OMIM:302800
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory failure, Respiratory insufficiency due to muscle weakness, Neonatal death OMIM:611890
Lethal Congenital Contracture Syndrome 10
Torticollis, Femoral bowing, Ventricular septal defect, Hypoplasia of the thymus, Increased varia... OMIM:617022
Thrombocytopenia 10
Abnormal bleeding, Decreased mean platelet volume, Petechiae, Spontaneous, recurrent epistaxis, M... OMIM:620484
Oculopharyngodistal Myopathy 1
Distal amyotrophy, Rimmed vacuoles, Facial palsy, Autophagic vacuoles, EMG: myopathic abnormaliti... OMIM:164310
Acute Monoblastic/Monocytic Leukemia
Cervical lymphadenopathy, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Oliguria... ORPHA:514
Stuve-Wiedemann Syndrome 2
Scoliosis, Thrombocytopenia, Bowing of the long bones, Camptodactyly OMIM:619751
Greig Cephalopolysyndactyly Syndrome
Atrial septal defect, 1-3 toe syndactyly, Y-shaped metatarsals, Postaxial hand polydactyly, 3-4 f... OMIM:175700
Coenzyme Q10 Deficiency, Primary, 1
Anemia, Decreased level of coenzyme Q10 in skeletal muscle, Pancytopenia, Ragged-red muscle fiber... OMIM:607426
Chanarin-Dorfman Syndrome
Ataxia, Hepatomegaly, Hepatic steatosis, Myopathy OMIM:275630
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, I... ORPHA:542323
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Scoliosis, Tremor, Limb myoclonus, Frequent falls, Myoclonus, Clumsiness, Lower... ORPHA:2590
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Myopathy, Hemolytic anemia ORPHA:169090
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Chediak-Higashi Syndrome
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Spontaneous, recurrent epistax... OMIM:214500
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Patent foramen ovale, Cardiomyopathy, Spinal muscular atrophy, Increased variability in muscle fi... OMIM:616866
Isovaleric Acidemia
Cerebellar hemorrhage, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia OMIM:243500
Immunodeficiency, Common Variable, 2
Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia OMIM:240500
Pontocerebellar Hypoplasia, Type 14
Hypertonia, Chronic neutropenia, Dystonia, Thrombocytopenia, Spastic tetraplegia OMIM:619301
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:545
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ... ORPHA:277
Mitochondrial Trifunctional Protein Deficiency 1
Cholestasis, Elevated circulating creatine kinase concentration, Hyperammonemia, Rhabdomyolysis, ... OMIM:609015
Hemophagocytic Lymphohistiocytosis, Familial, 2
Prolonged prothrombin time, Hypertriglyceridemia, Tetraplegia, Hypoproteinemia, Leukopenia, Splen... OMIM:603553
Combined Oxidative Phosphorylation Defect Type 13
Ankle flexion contracture, Limb dystonia, Lower limb hypertonia, Hip contracture, Failure to thri... ORPHA:319514
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Coenzyme Q10 Deficiency, Primary, 4
Decreased level of coenzyme Q10 in skeletal muscle, Tremor, Increased intramyocellular lipid drop... OMIM:612016
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Fasciculations, Calf muscle hypertrophy, Tremor, Upper limb muscle weakness, Elevated circulating... ORPHA:209335
Griscelli Syndrome Type 2
Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec... OMIM:619824
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Positive Romberg sign, Impaired distal proprioception, Gait ataxia, Inc... ORPHA:70595
Muscle-Eye-Brain Disease
Elevated circulating creatine kinase concentration, Hemiplegia/hemiparesis, Hypertonia, Myopathy ORPHA:588
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology ORPHA:33111
Refractory Anemia With Excess Blasts
Abnormal bleeding, Acute myeloid leukemia, Abnormal bone marrow cell morphology, Dysplastic granu... ORPHA:86839
3-Methylglutaconic Aciduria, Type Viib
Prolonged prothrombin time, Abnormal bleeding, Hyperkinetic movements, Rhizomelia, Spasticity, Tr... OMIM:616271
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemi... OMIM:269840
Cinca Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Eosinophilia OMIM:607115
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Renal cortical adenoma, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Pa... ORPHA:97290
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Distal lower limb muscle weakness, Scapular winging, Clonus, Tendon rupture, Fiber type grouping,... OMIM:620080
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Clinodactyly of the 2nd finger, Broad middle phalanx of finger, Clinodactyly of the 3rd finger, B... ORPHA:221139
Familial Hemophagocytic Lymphohistiocytosis
Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, H... ORPHA:540
Tangier Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Impaired temperature... OMIM:205400
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Babinski sign, Hepatomegaly, Truncal ataxia, Scoliosis, Spasticity, Myoclonus, Ascites, Lower lim... OMIM:301072
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Synaptic Congenital Myasthenic Syndromes
Talipes equinovarus, Scoliosis, Scapular winging, Facial palsy, Frequent falls, Hand muscle weakn... ORPHA:98915
Craniotelencephalic Dysplasia
Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia OMIM:218670
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Limb hypertonia, Spasticity, Hyperalaninemia, Cardiomeg... OMIM:619170
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Microphthalmia OMIM:278780
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Upper limb muscle weakness, Intrinsic hand muscle atrophy, Hand muscle atrophy, Type 2 muscle fib... OMIM:601462
Hypermethioninemia Due To Adenosine Kinase Deficiency
Prolonged prothrombin time, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine conce... OMIM:614300
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Babinski sign, Distal amyotrophy, Athetosis, Involuntary movements, Fiber type grouping, Ataxia, ... OMIM:271245
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Caspase 8 Deficiency
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly OMIM:607271
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Fasciculations, Cardiomyopathy, Elevate... OMIM:610717
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... ORPHA:486
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Kyphoscoliosis, Spastic gait, Babinski sign, Bradykinesia, Apraxia, Facial hypotonia, Resting tre... OMIM:300055
Sandhoff Disease
Hepatomegaly, Impaired temperature sensation, Fasciculations, Spasticity, Upper motor neuron dysf... OMIM:268800
Dystonia 12
Hypomimic face, Bradykinesia, Torticollis, Tremor, Dystonia, Parkinsonism OMIM:128235
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia, Weakness of facial musculature OMIM:618637
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Renal-Hepatic-Pancreatic Dysplasia 1
Situs inversus totalis, Enlarged kidney, Hepatomegaly, Atrial septal defect, Polycystic kidney dy... OMIM:208540
Gaucher Disease Type 2
Hepatomegaly, Spasticity, Dystonia, Flexion contracture, Splenomegaly ORPHA:77260
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Babinski sign, Hypertonia, Distal sensory impairment, Scoliosis, Distal amyotrophy, Tremor, Gait ... OMIM:616505
Non-Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141179
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Autosomal Spastic Paraplegia Type 58
Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Distal amyotrophy, Tremor,... ORPHA:397946
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Nephrotic syndrome, Splenomegaly, Cardiomegaly OMIM:269920
Vocal Cord And Pharyngeal Distal Myopathy
Distal sensory impairment, Distal upper limb amyotrophy, Rimmed vacuoles, Mildly elevated creatin... ORPHA:600
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Spasticity, Increased variability in muscle fiber diameter, Right ventricular hypertrophy, Myoclo... OMIM:612949
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi... OMIM:620135
Babesiosis
Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Hemolytic anemia ORPHA:108
Oculogastrointestinal Muscular Dystrophy
Abnormal mitral valve morphology, Cachexia, Skeletal muscle atrophy, Myopathy ORPHA:1876
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Facial palsy, Decreased muscle mass, Skeletal muscle atrophy, Arthrogryposis multiplex congenita,... OMIM:608931
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Arthrogryposis Multiplex Congenita 6
Increased variability in muscle fiber diameter, Adducted thumb, Arthrogryposis multiplex congenit... OMIM:619334
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr... OMIM:306955
Pneumocystosis
Respiratory failure requiring assisted ventilation, Abnormal neutrophil count, Increased circulat... ORPHA:723
Leber Optic Atrophy
Postural tremor, Dystonia, Ataxia, Myopathy OMIM:535000
Transaldolase Deficiency
Thrombocytopenia, Cirrhosis, Anemia, Hepatosplenomegaly ORPHA:101028
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Choreoacanthocytosis
Chorea, Abnormal erythrocyte enzyme concentration or activity, Lingual dystonia, Limb dystonia, H... ORPHA:2388
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Anemia, Macrovesicular hepatic steatosis, Ragged-red muscle fibers, Cachexia, Hyperala... ORPHA:298
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Tremor, Reticulocytosis, Dystonia, Ataxia, Splenomegaly, Choreoathetos... OMIM:612126
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Classic Mycosis Fungoides
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly ORPHA:2584
Aicardi-Goutieres Syndrome 5
Spasticity, Thrombocytopenia, Flexion contracture OMIM:612952
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Calf muscle hypertrophy, Tremor, Elevated circulating creatine kinase concentrati... OMIM:313200
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Lymphadenitis, Granuloma, Nephrotic syn... OMIM:618935
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Chorea, Calf muscle hypertrophy, Muscular edema, Scapula... ORPHA:268
Sialidosis Type 1
Abnormal form of the vertebral bodies, Scoliosis, Tremor, Kyphosis, Ataxia, Splenomegaly, Skeleta... ORPHA:812
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Chédiak-Higashi Syndrome
Abnormal bleeding, Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, ... ORPHA:167
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Facial palsy, EMG: myopathic abnormalities, Hypertrophic cardiomyopat... OMIM:601419
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myopathy OMIM:158800
Breath-Holding Spells
Cyanosis OMIM:607578
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis, Anemia, Chorea, Hemiplegia/hemiparesis, Hyperammonemia, Dystonia, Thr... ORPHA:289916
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Anemi... ORPHA:85450
Hermansky-Pudlak Syndrome 6
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Impaired collagen-indu... OMIM:614075
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormal lymph node morphology, Abnormality ... ORPHA:543
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hematuria, Lymphadenopathy, Asplenia, Nephritis, Coombs-positive hemolytic anemia, ... OMIM:614034
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Babinski sign, Generalized limb muscle atrophy, Hypertonia, Progressive cerebellar ataxia, Impair... ORPHA:137898
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... OMIM:617319
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Focal segme... OMIM:232220
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Myopathy, Polycystic liver disease OMIM:109130
Sneddon Syndrome
Tremor, Facial palsy, Cerebral hemorrhage, Impaired distal tactile sensation, Lymphopenia, Bicusp... OMIM:182410
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Immunodeficiency 46
Decreased circulating antibody level, Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia OMIM:617243
Biemond Syndrome Type 2
Delayed puberty, Microphthalmia, Short stature ORPHA:141333
Barth Syndrome
Hypochromic microcytic anemia, Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Skeletal ... OMIM:302060
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Sclerosing cholangitis, Cutaneous abscess, Hemiplegia, Failure to thrive, Decreased proportion of... OMIM:243700
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Ragged-red muscle fibers, Cardiomyopathy, Sensory ataxia, EMG: myopathic abnormalities, Limb musc... OMIM:609286
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Hepatomegaly, Decreased circulating total IgM, Abnormal natural kill... ORPHA:331206
Sickle Cell Disease
Hepatomegaly, Hematuria, Splenic infarction, Leukocytosis, Target cells, Splenomegaly, Cardiomega... OMIM:603903
Fetal Cytomegalovirus Syndrome
Jaundice, Anemia, Hepatomegaly, Petechiae, Retinal hemorrhage, Thrombocytopenia, Splenomegaly, He... ORPHA:294
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Cardiomyopathy, Joint contracture, Flexion contracture, Splenomegaly OMIM:608540
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Axial musc... ORPHA:240085
Fucosidosis
Abnormality of the gallbladder, Hepatomegaly, Anterior beaking of lumbar vertebrae, Spasticity, K... ORPHA:349
Hypermanganesemia With Dystonia 2
Hypomimic face, Babinski sign, Bradykinesia, Oromandibular dystonia, Generalized dystonia, Scisso... OMIM:617013
Osteogenesis Imperfecta, Type Xvi
Decreased calvarial ossification, Prolonged bleeding time, Bruising susceptibility, Osteopenia OMIM:616229
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... OMIM:308230
Combined Oxidative Phosphorylation Deficiency 51
Respiratory failure, Neonatal respiratory distress OMIM:619057
Parkinsonism-Dystonia 1, Infantile-Onset
Hypomimic face, Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogy... OMIM:613135
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Hypertonia, Limb hypertonia, Tremor, Hyperphenylalaninemia, Rigidity, Dystonia, Ata... OMIM:261640
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Prolonged prothrombin time, Action tremor, Rigidity, Splenomegaly, Micronodular cirrhosis, Hypert... ORPHA:309854
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Elevated circulating creatine kinase concentration, Hy... ORPHA:732
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Myositis, Failure to thrive, Thrombo... OMIM:617591
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis, Anemia, Macrocytic anemia, Cardiomyopathy, Paraparesis, Hyperammonemi... ORPHA:27
Osteopetrosis, Autosomal Recessive 1
Femur fracture, Hepatomegaly, Anemia, Pancytopenia, Sandwich appearance of vertebral bodies, Flar... OMIM:259700
Sézary Syndrome
Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Tremor, Skeletal muscle atrophy, S... ORPHA:3162
Leigh Syndrome
Hyperkinetic movements, Anemia, Abnormality of extrapyramidal motor function, Chorea, Spasticity,... ORPHA:506
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Riboflavin Transporter Deficiency
Cachexia, Tremor, Facial palsy, Limb muscle weakness, Ataxia, Skeletal muscle atrophy, Myoclonus ORPHA:97229
Parkinsonism-Dystonia 2, Infantile-Onset
Hypomimic face, Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Dystonia, Ataxia, ... OMIM:618049
Spinocerebellar Ataxia, Autosomal Recessive 20
Kyphoscoliosis, Babinski sign, Hepatomegaly, Apraxia, Scoliosis, Spasticity, Camptodactyly, Ataxi... OMIM:616354
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Progressive psychomotor deterioration, Episodic hemolytic anemia, Macroscopic he... ORPHA:251004
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:610127
Dystonia 28, Childhood-Onset
Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial dystonia, Dyst... OMIM:617284
Acquired Purpura Fulminans
Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Thrombocytopenia, Intracranial ... ORPHA:49566
Carcinoid Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Hepatic necrosis, Chronic noninfec... ORPHA:100093
Congenital Disorder Of Glycosylation, Type Ih
Perimembranous ventricular septal defect, Hepatomegaly, Anemia, Cholestasis, Ascites, Camptodacty... OMIM:608104
Shwachman-Diamond Syndrome 1
Hepatomegaly, Anemia, Acute myeloid leukemia, Metaphyseal sclerosis, Pancytopenia, Myocardial nec... OMIM:260400
Neonatal Lupus Erythematosus
Aplastic anemia, Abnormal bleeding, Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenom... ORPHA:398124
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level, Ascites, Bone marr... ORPHA:381
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Neuralgic Amyotrophy
Short stature, Acrocyanosis ORPHA:2901
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Decreased circulating antibody lev... OMIM:300635
Hereditary Folate Malabsorption
Pancytopenia, Megaloblastic anemia, Failure to thrive, Thrombocytopenia, Skeletal muscle atrophy,... ORPHA:90045
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in childhood, Respiratory insufficiency, Death in infancy, Neonatal death, Respiratory fail... OMIM:245400
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Meacham Syndrome
Enlarged kidney, Transposition of the great arteries, Dextrocardia, Cardiac total anomalous pulmo... OMIM:608978
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomyopathy, Elevated circulating creatine kinase concentration, Left ventricula... OMIM:617713
Isolated Agammaglobulinemia
Anemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Abnormal lymphocyte morp... ORPHA:229717
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Intrauterine growth retardation, Microphthalmia, Short stature OMIM:616171
Subacute Inflammatory Demyelinating Polyneuropathy
Distal sensory impairment, Positive Romberg sign, Tremor, Leukocytosis, Frequent falls, Abnormal ... ORPHA:206594
Proteus Syndrome
Calvarial hyperostosis, Mandibular hyperostosis, Lymphangioma, Facial hyperostosis, Splenomegaly,... OMIM:176920
Rapidly Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141184
Amed Syndrome, Digenic
Anemia, Acute myeloid leukemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia OMIM:619151
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Reduced bone mineral density, Hepatomegaly, Decreased circulating IgG level, Leukopenia, Splenome... OMIM:620210
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure ORPHA:1832
Systemic Lupus Erythematosus 17
Thrombocytopenia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia OMIM:301080
Specific Granule Deficiency 2
Osteopenia, Anemia, Thrombocytopenia, Bone marrow maturation arrest, Absent neutrophil specific g... OMIM:617475
Neurodegeneration With Brain Iron Accumulation 3
Hypomimic face, Babinski sign, Bradykinesia, Writer's cramp, Chorea, Spasticity, Tremor, Blepharo... OMIM:606159
Rhabdoid Tumor
Irritability, Renal neoplasm, Anemia, Lymphadenopathy, Hematuria, Thrombocytopenia ORPHA:69077
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Gaucher Disease, Type I
Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Epistaxis, Hypersplenism OMIM:230800
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Paroxysmal dyskinesia, Limb hypertonia, Resting tremor, Chorea, Facial myokymia, Involuntary move... OMIM:606703
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Increased varia... OMIM:615595
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Atrial septal defect, Enlarged kidney, Mesocardia, Partial anoma... OMIM:618280
Mmep Syndrome
Microphthalmia ORPHA:3434
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Ataxia, Myopathy, Gait ataxia OMIM:613077
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Alg8-Cdg
Anemia, Ascites, Camptodactyly, Hyponatremia, Failure to thrive, Thrombocytopenia, Ataxia, Brachy... ORPHA:79325
Relapsing Fever
Prolonged prothrombin time, Abnormal bleeding, Jaundice, Anemia, Leukocytosis, Neutrophilia, Leuk... ORPHA:91547
Atypical Juvenile Parkinsonism
Hypomimic face, Bradykinesia, Resting tremor, Scoliosis, Gait ataxia, Leg muscle stiffness, Slowe... ORPHA:391411
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hepatosplenomegal... OMIM:615122
Craniotelencephalic Dysplasia
Frontal encephalocele, Microphthalmia, Septo-optic dysplasia ORPHA:1528
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Respiratory failure, Death in infancy OMIM:616277
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy... ORPHA:39041
Fetal And Neonatal Alloimmune Thrombocytopenia
Spontaneous hematomas, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Melena, Cephalohe... ORPHA:853
O'Sullivan-Mcleod Syndrome
Fasciculations, Tremor, Upper limb muscle weakness, Hand muscle weakness, Intrinsic hand muscle a... ORPHA:99965
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia OMIM:608184
Adrenomyodystrophy
Failure to thrive, Hepatic steatosis, Myopathy ORPHA:977
Senior-Loken Syndrome
Nephronophthisis, Abnormality of retinal pigmentation, Congenital hepatic fibrosis, Chronic kidne... ORPHA:3156
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Limb ataxia, Impaired proprioception, Oculomotor apraxia, Chorea, Scoliosis, Distal amyotrophy, T... OMIM:606002
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:85329
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Respiratory failure OMIM:313420
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly ORPHA:397596
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Hypomimic face, Bradykinesia, Oculogyric crisis, Limb hypertonia, Tremor, Cerebral palsy, Rigidit... ORPHA:70594
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Ivic Syndrome
Absent thumb, Hypoplasia of the ulna, Hypoplasia of the radius, Scoliosis, Radioulnar synostosis,... OMIM:147750
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Cat-Eye Syndrome
Short stature, Microphthalmia, Intrauterine growth retardation ORPHA:195
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyr... OMIM:615924
H Syndrome
Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Hepatosplenomegaly, Micropenis, Hist... ORPHA:168569
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Systemic Mastocytosis With Associated Hematologic Neoplasm
Granulocytic hyperplasia, Normocytic anemia, Hepatomegaly, Bone marrow hypercellularity, Acute my... ORPHA:98849
Cold Agglutinin Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia ORPHA:56425
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal tubular epithelial necrosis, Elevated circulating long chain fatty acid concentration, Elev... ORPHA:228302
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hepatomegaly, Anemia, Hemophagocytosis, Pancreatiti... OMIM:222700
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Cataract 9, Multiple Types
Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Dermatosparaxis Ehlers-Danlos Syndrome
Rickets, Osteopenia, Osteoporosis, Osteomalacia, Prolonged bleeding time ORPHA:1901
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Abnormal bleeding, Jaundice, Giant cell hepatitis, Intrahepatic biliar... OMIM:208085
Refsum Disease, Classic
Cardiomyopathy, Short fourth metatarsal, Limb muscle weakness, Elevated circulating phytanic acid... OMIM:266500
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia, Decreased body mass index, Scoliosis, Hemivertebrae, Tremor, Ara... ORPHA:370079
Immunodeficiency, Common Variable, 7
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific... OMIM:614699
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Glycogen Storage Disease Ixb
Increased muscle glycogen content, Hepatomegaly, Hyperuricemia, Increased hepatic glycogen conten... OMIM:261750
Cataract 50 With Or Without Glaucoma
Retinal detachment, Persistent pupillary membrane, Cataract OMIM:620253
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Reduced bone mineral density, Gastrointestinal hemorrhage, Abn... ORPHA:1414
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Jaundice, Hepatomegaly, Anemia of inadequate production, Calvarial hyperostosis, Exoc... OMIM:612714
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Anemia, Patent foramen ovale, Hypertrophic cardiomyopathy, Nephrotic syndrome, B... ORPHA:505248
Glycogen Storage Disease Ii
Increased muscle glycogen content, Hepatomegaly, Increased circulating NT-proBNP concentration, F... OMIM:232300
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Boutonneuse Fever
Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Thrombocytopenia, R... ORPHA:83313
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Myelofibrosis OMIM:607721
Igg4-Related Kidney Disease
Acute kidney injury, Enlarged kidney, Urethritis, Renal interstitial immunoglobulin deposits, Lym... ORPHA:449395
Cystinosis
Hypokalemia, Portal hypertension, Failure to thrive, Hypophosphatemia, Abnormal pyramidal sign, M... ORPHA:213
Cardiomyopathy, Familial Hypertrophic, 4
Hepatomegaly, Ventricular septal hypertrophy, Muscular ventricular septal defect, Ventricular hyp... OMIM:115197
Cog8-Cdg
Prolonged prothrombin time, Spontaneous hematomas, Failure to thrive, Ataxia, Skeletal muscle atr... ORPHA:95428
Spastic Paraplegia 9B, Autosomal Recessive
Babinski sign, Tetraplegia, Tremor, Spasticity, Impaired distal vibration sensation, Spastic para... OMIM:616586
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Cantu Syndrome
Bicuspid aortic valve, Large for gestational age, Platyspondyly, Short hallux, Pericardial effusi... OMIM:239850
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hepatomegaly, Anemia, Ascites ORPHA:2123
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Diaphyseal cortical sclerosis, Metaphyseal striations, Limb muscle weakness, Limb-girdle muscle w... OMIM:112250
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Anemia, Lymphadenopathy, Scoliosis, Hypoproteinemia, Cholestasis, Leukocytosis, Lym... OMIM:615895
Congenital Fibrinogen Deficiency
Prolonged prothrombin time, Abnormal bleeding, Gingival bleeding, Internal hemorrhage, Splenic ru... ORPHA:335
Cofs Syndrome
Intrauterine growth retardation, Microphthalmia, Short stature ORPHA:1466
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Elevated urinary inosine level, Neutropenia in presence of anti-neut... OMIM:613179
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Microphthalmia OMIM:274270
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Petechiae, Gingival bleeding, Ascites, Thrombocytopeni... ORPHA:99828
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Aplastic anemia, Purpura, Amegakaryocytic thrombocytopenia, Petechiae, Megakaryocytopenia, Congen... OMIM:605432
Carey-Fineman-Ziter Syndrome 1
Pectoralis hypoplasia, Hypoplasia of the musculature, Scoliosis, Facial palsy, Tapered finger, El... OMIM:254940
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Scoliosis, Type 2 muscle fiber predominance, Hyperalaninemia, Hypertrophic cardiomyopathy, Hypera... OMIM:615471
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Periportal fibrosis, Decreased circulating carnitine concentration, Elevated circul... OMIM:201475
Congenital Factor X Deficiency
Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemor... ORPHA:328
Braddock-Carey Syndrome 1
Hyperlordosis, Camptodactyly, Spastic diplegia, Thrombocytopenia, Ventricular septal defect, Aort... OMIM:619980
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Short stature, Microphthalmia OMIM:610023
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Progressive neurologic deterioration, ... OMIM:252920
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Jaundice, Anemia, Hepatomegaly, Abnormal natural killer cell count, Pancytopenia, Paraplegia, Asc... ORPHA:79124
Combined Oxidative Phosphorylation Deficiency 54
Hypertonia, Scoliosis, Tremor, Hemiparesis, Hypoesthesia, Obesity, Impaired vibratory sensation, ... OMIM:619737
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia... OMIM:314390
Microphthalmia, Syndromic 13
Short stature, Microphthalmia OMIM:300915
Hyperekplexia 4
Respiratory failure OMIM:618011
Spinocerebellar Ataxia 2
Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Oculomotor apraxia, Fasc... OMIM:183090
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Truncal ataxia, Dysdiadochokinesis, Thoracic kyphosis, Tremor, Gait ataxia, Intention tremor, Sho... OMIM:610185
Attrv122I Amyloidosis
Anemia, Increased circulating NT-proBNP concentration, Cardiac amyloidosis, Restrictive cardiomyo... ORPHA:85451
Galactosemia Iii
Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Aminoaciduria OMIM:230350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Clinodactyly of the 5th finger, Hyperlordosis, Facial palsy, Skeletal muscle atrophy, Abnormal mu... ORPHA:3068
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity OMIM:618660
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia, Cyanosis OMIM:240200
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Respiratory failure ORPHA:370968
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:598500
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Limb ataxia, Babinski sign, Increased hepatic glycogen content, Clumsiness, Truncal ataxia, Dyses... OMIM:619259
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Hepatomegaly, Long-chain dicarboxylic aciduria, Polycystic... OMIM:608836
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Spasticity, Failure to thrive, Thrombocytopenia ORPHA:67048
Congenital Rubella Syndrome
Abnormal metaphysis morphology, Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, P... ORPHA:290
Hermansky-Pudlak Syndrome 8
Impaired platelet aggregation, Bruising susceptibility OMIM:614077
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Cirrhosis, Thrombocytopenia, Pancytopenia OMIM:613987
Gm1 Gangliosidosis
Abnormal form of the vertebral bodies, Decerebrate rigidity, Hyperlordosis, Cardiomyopathy, Kypho... ORPHA:354
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Hematuria, Retinal detachment, Corneal opacity, Posterior embryotoxon, Cataract, I... ORPHA:1473
Dentinogenesis Imperfecta
Prolonged bleeding time, Bruising susceptibility ORPHA:49042
Felty Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit... ORPHA:47612
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Myoclonus, Hepatic steatosis, Polydactyly, Hypertonia, Hyperkinetic movements, Pat... ORPHA:17
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA le... OMIM:618048
Roifman Syndrome
Hepatomegaly, Biconvex vertebral bodies, Lymphadenopathy, Clinodactyly of the 5th finger, Noncomp... OMIM:616651
Familial Papillary Or Follicular Thyroid Carcinoma
Papillary renal cell carcinoma, Abnormal lymph node morphology, Chronic noninfectious lymphadenop... ORPHA:319487
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Hepatomegaly, Splenomegaly ORPHA:417
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Rocker bottom foot, Butterfly vertebrae, Hepatomegaly, Talipes equinovarus, Small for gestational... OMIM:301056
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Hepatomegaly, Limb hypertonia, Failure to thrive, Ataxia, Splenomegaly OMIM:613489
Braddock-Carey Syndrome 2
Megakaryocytopenia, Thrombocytopenia OMIM:619981
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration ORPHA:85435
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Overlapping toe, Tremor, EMG: myopathic abnormalities ORPHA:457365
Melas
Anemia, Concentric hypertrophic cardiomyopathy, Ragged-red muscle fibers, Myoclonus, Cardiomyopat... ORPHA:550
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Tongue fasciculations, Cardiomyopathy, Myoclonus, Hepatic steatosis, Myopathy OMIM:614922
Early-Onset Autosomal Dominant Alzheimer Disease
Hypertonia, Deposits immunoreactive to beta-amyloid protein, Oculomotor apraxia, Apraxia, Ataxia,... ORPHA:1020
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Jaundice, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th... OMIM:613839
Mevalonic Aciduria
Kyphoscoliosis, Fluctuating splenomegaly, Anemia, Lymphadenopathy, Progressive cerebellar ataxia,... OMIM:610377
Neurodegeneration With Brain Iron Accumulation 1
Bradykinesia, Babinski sign, Abnormality of extrapyramidal motor function, Spasticity, Tremor, Bl... OMIM:234200
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly OMIM:614480
Unclassified Myelodysplastic Syndrome
Bone marrow hypocellularity, Leukocytosis, Acute myeloid leukemia ORPHA:98827
Hartsfield Syndrome
Intrauterine growth retardation, Microphthalmia, Encephalocele ORPHA:2117
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Hepatomegaly, Hyperlipidemia, Elevated circulating creatine ki... ORPHA:157
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Microphthalmia ORPHA:324416
Sweet Syndrome
Increased circulating interleukin 6 concentration, Acute myeloid leukemia, Anemia, Chronic lympha... ORPHA:3243
Developmental And Epileptic Encephalopathy 42
Hypertonia, Tremor, Athetosis, Ataxia, Flexion contracture OMIM:617106
Avian Influenza
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... ORPHA:454836
Musculocontractural Ehlers-Danlos Syndrome
Kyphoscoliosis, Abnormal bleeding, Subcutaneous hemorrhage, Abnormal heart valve morphology, Scol... ORPHA:2953
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries ORPHA:90301
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Increased circulating ferritin concentr... ORPHA:465508
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Aceruloplasminemia
Chorea, Gait ataxia, Aceruloplasminemia, Rigidity, Ataxia, Decreased circulating iron concentrati... ORPHA:48818
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Anemia, Portal hypertension, Thrombocytopenia, Lymphopenia OMIM:620365
Mitochondrial Trifunctional Protein Deficiency
Babinski sign, Hypocalcemia, Cholestasis, Lower limb muscle weakness, Frequent falls, Cardiomyopa... ORPHA:746
Noonan Syndrome 12
Proximal placement of thumb, Tetralogy of Fallot, Thrombocytopenia, Lymphopenia, Ventricular sept... OMIM:618624
Dystonia 7, Torsion
Oromandibular dystonia, Torticollis, Writer's cramp, Skeletal muscle hypertrophy, Torsion dystoni... OMIM:602124
Xp21 Deletion Syndrome
Hypertriglyceridemia, Spasticity, Calf muscle hypertrophy, Elevated circulating creatine kinase c... ORPHA:261476
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Petechiae, B lymphocytopenia, Bone marrow hypocellularity, Reduced natural killer c... OMIM:620133
Dystonia 1, Torsion, Autosomal Dominant
Babinski sign, Hypertonia, Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia,... OMIM:128100
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Abnormal bleeding, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Ab... ORPHA:35858
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Osteol... ORPHA:280365
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension... OMIM:278000
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Increased circulating IgE level... OMIM:304790
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Scoliosis, Elbow flexion contracture, Bilateral talipes equinovarus, Thenar muscle atrophy, Hypop... OMIM:612394
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... ORPHA:240103
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Sandal gap, Tremor, Kyphosis, Gait ataxia, Brachydactyly, Abdominal obesity, Distal lower limb am... OMIM:300354
Wars2-Related Combined Oxidative Phosphorylation Defect
Limb hypertonia, Tremor, Athetosis, Cardiomyopathy, Limb dystonia, Generalized amyotrophy, Thromb... ORPHA:572798
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Kasabach-Merritt Phenomenon
Prolonged prothrombin time, Hepatic hemangioma, Purpura, Anemia, Petechiae, Abnormal lymphatic ve... ORPHA:2330
Classic Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Osteolysis ORPHA:391
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular septal hypertrophy, Ventricular hypertrophy, Cardiomyopathy, EMG: myopathic abnormali... ORPHA:263297
Vici Syndrome
Atrial septal defect, Cardiomyopathy, Elevated circulating creatine kinase concentration, T lymph... OMIM:242840
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance OMIM:619173
2Q24 Microdeletion Syndrome
Growth delay, Microphthalmia ORPHA:1617
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hepatomegaly, Anemia, Glomerular scl... OMIM:276700
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Lymphadenopathy, Lymphocytosis, Nephrotic syndrome, Eosinophilia, Renal insufficienc... ORPHA:139402
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Urachal cyst, Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, ... OMIM:608203
Cyclic Neutropenia
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Lymphopenia, Tooth abscess, Thrombocyto... ORPHA:2686
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Cholestasis, Proteinuria, Splenomegaly OMIM:620010
Mirage Syndrome
Rocker bottom foot, Hyperkalemia, Anemia, Patent ductus arteriosus, Radial club hand, Petechiae, ... OMIM:617053
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,... ORPHA:158048
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Tapered distal phalanges of finger, Cachexia, Scoliosis, Elbow flexion ... ORPHA:371364
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis ... OMIM:211600
Coats Disease
Retinal detachment, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract ORPHA:190
Thrombocytopenia 1
Decreased mean platelet volume, Petechiae, Increased circulating IgE level, Increased circulating... OMIM:313900
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spleen ORPHA:79456
Combined Oxidative Phosphorylation Deficiency 12
Bradykinesia, Babinski sign, Hepatomegaly, Macrovesicular hepatic steatosis, Ragged-red muscle fi... OMIM:614924
Transaldolase Deficiency
Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Hepatosplenomegaly, Splenomegaly, Micronodular cir... OMIM:606003
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... OMIM:235700
Congenital Factor Vii Deficiency
Prolonged prothrombin time, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleedin... ORPHA:327
Hermansky-Pudlak Syndrome 1
Gingival bleeding, Ecchymosis, Epistaxis, Hematochezia, Bruising susceptibility, Prolonged bleedi... OMIM:203300
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Distal sensory impairment, Torticollis, Spasticity, Park... OMIM:606693
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Prolidase Deficiency
Hepatomegaly, Anemia, Increased circulating antibody level, Petechiae, Prolonged neonatal jaundic... OMIM:170100
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni... OMIM:618394
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Scoliosis, Facial diplegia, 2-3 toe syndactyly, Tremor, Limb muscle weakness, Long fingers, Limb ... OMIM:218000
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia, Polysplenia, Hepatomegaly OMIM:200995
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Familial Isolated Hypoparathyroidism
Hypocalcemia, Myopathy ORPHA:2238
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Sideroblastic anemia, Cardiomyopathy, Ataxia OMIM:530000
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Hepatomegaly, Abnormal bleeding, Pancytopenia, Cholestasis, Elevated circulating creat... OMIM:614576
Farber Disease
Short finger, Anemia, Lymphadenopathy, Intrahepatic cholestasis with episodic jaundice, Spasticit... ORPHA:333
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Abnormal circulating interleukin concentration ORPHA:319552
Diaphanospondylodysostosis
Enlarged kidney, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidney, Cystic renal dysplasia OMIM:608022
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Behr Syndrome
Adductor longus contractures, Babinski sign, Truncal ataxia, Tremor, Progressive spasticity, Freq... OMIM:210000
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Respiratory failure, Stillbirth OMIM:276950
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche... OMIM:614700
Factor X Deficiency
Prolonged prothrombin time, Intramuscular hematoma, Gingival bleeding, Menorrhagia, Joint hemorrh... OMIM:227600
Congenital Myopathy 21 With Early Respiratory Failure
Elevated circulating creatine kinase concentration, EMG: myopathic abnormalities, Hypertrophic ca... OMIM:620326
Thyrotoxic Periodic Paralysis
Hyperkalemia, Transient hypophosphatemia, Respiratory paralysis, Tetraplegia, Tremor, Mildly elev... ORPHA:79102
Carey-Fineman-Ziter Syndrome
Aplasia of the pectoralis major muscle, Scoliosis, Facial palsy, Skeletal muscle atrophy, Brachyd... ORPHA:1358
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis OMIM:271500
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased circulating hemoglobin concentration, Cerebral hemorrhag... OMIM:133100
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Thrombocytopenia, Reticulocytosis ORPHA:54057
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hepatic fibrosis OMIM:613313
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r... OMIM:620367
Hypotonia-Cystinuria Syndrome
Ragged-red muscle fibers, Failure to thrive, Facial palsy, Hypocalcemia OMIM:606407
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Congenital Myopathy 9A
Tongue fasciculations, Obesity, EMG: myopathic abnormalities OMIM:618822
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Thrombocytopenia ORPHA:1237
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibro... OMIM:616217
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Amyloidosis, Familial Visceral
Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Nephropathy OMIM:105200
Tick-Borne Encephalitis
Hyperkinetic movements, Elevated circulating C-reactive protein concentration, Tongue fasciculati... ORPHA:297
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ectopic kidney, Optic disc pallor, Cataract, Cystic renal dysplasia OMIM:613730
Smith-Kingsmore Syndrome
Large for gestational age, Short proximal phalanx of finger, Rhizomelia, Diastasis recti, Thrombo... OMIM:616638
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Increased total... OMIM:619868
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:79128
Osteopetrosis, Autosomal Recessive 5
Hypertonia, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Limb hypertonia, Pancytopenia, F... OMIM:259720
Macs Syndrome
Prolonged bleeding time, Bruising susceptibility, Osteoporosis OMIM:613075
Mgat2-Cdg
Osteopenia, Abnormal bleeding, Impaired lymphocyte transformation with phytohemagglutinin, Impair... ORPHA:79329
Bile Acid Synthesis Defect, Congenital, 3
Prolonged prothrombin time, Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic ... OMIM:613812
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Myositis, Splenomegaly, Flexion contr... OMIM:619183
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Nephropathy ORPHA:85447
Idiopathic Camptocormia
Fatty replacement of skeletal muscle, Myositis, EMG: myopathic abnormalities, Elevated circulatin... ORPHA:1320
Pediatric Systemic Lupus Erythematosus
Hematuria, Lymphadenopathy, Abnormality of the urinary system, Lymphopenia, Cognitive impairment,... ORPHA:93552
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Decreased circulating antibody level, Thrombocytopenia OMIM:616576
Cinca Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Splenomegal... ORPHA:1451
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Anemia, Methylmalonic acidemia, Dextrocardia, Pancytopenia, Hyperhomocystinemia, In... OMIM:277380
Oculocerebrocutaneous Syndrome
Microphthalmia, Orbital encephalocele, Anophthalmia OMIM:164180
Native American Myopathy
Abnormality of skeletal muscle fiber size, Talipes equinovarus, Camptodactyly, Congenital contrac... ORPHA:168572
S-Adenosylhomocysteine Hydrolase Deficiency
Prolonged prothrombin time, Muscular dystrophy, Abnormal circulating homocysteine concentration, ... ORPHA:88618
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Gaucher Disease, Perinatal Lethal
Purpura, Hepatomegaly, Anemia, Petechiae, Decreased body weight, Ascites, Thrombocytopenia, Hepat... OMIM:608013
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Iron deficiency anemia, Thrombocytosis, Elevated circulating C-reactive protein... OMIM:301074
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Purpura, Hepatomegaly, Anemia, Petechiae, Splenomegaly OMIM:620296
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Fanconi Anemia, Complementation Group C
Anemia, Pancytopenia, Reticulocytopenia, Anterior wedging of T12, Bone marrow hypocellularity, Co... OMIM:227645
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypomimic face, Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Spastic tetraparesis, ... ORPHA:352649
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Lens subluxation, Lattice retinal degeneration, Cataract OMIM:614292
Ehlers-Danlos Syndrome, Classic-Like, 1
Muscle fiber splitting, Quadricuspid aortic valve, Proximal amyotrophy, Mitral valve prolapse, Br... OMIM:606408
Encephalopathy, Ethylmalonic
Petechiae, Acrocyanosis, Elevated circulating butyrylcarnitine concentration, Death in infancy OMIM:602473
Mohr-Tranebjaerg Syndrome
Intrinsic hand muscle atrophy, Spasticity, Tremor, Dystonia OMIM:304700
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hyposerinemia, Hyperglycinemia, Intrauterine growth retardation, Cyanotic episode ORPHA:284417
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Pe... ORPHA:829
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Flared metaphysis, Ascites, Hypertrophic cardiomyopathy, Decreased fibular diamete... OMIM:616897
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Tremor, Intention tremor, Gait ataxia, Ataxia, Ankle clonus, Spastic parapare... OMIM:616053
Neurodegeneration With Brain Iron Accumulation 4
Babinski sign, Oromandibular dystonia, Abnormality of extrapyramidal motor function, Distal amyot... OMIM:614298
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Respiratory failure OMIM:615330
Combined Deficiency Of Factor V And Factor Viii
Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Prolonged bleeding fo... ORPHA:35909
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidity, Pa... OMIM:137440
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune... OMIM:616100
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Beta-Thalassemia Intermedia
Osteopenia, Cirrhosis, Jaundice, Hepatomegaly, Reduced bone mineral density, Cholelithiasis, Anem... ORPHA:231222
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... ORPHA:860
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis, Cardiorespiratory arrest ORPHA:280785
Congenital Disorder Of Glycosylation, Type Iig
Kyphoscoliosis, Butterfly vertebrae, Giant platelets, Anemia, Rhizomelia, Vertebral segmentation ... OMIM:611209
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Tremor, Elevated circulating cre... ORPHA:79095
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Iris coloboma ORPHA:231736
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Abnormal right ventricle morphology, Chronic neutropenia, Ventricular septal def... ORPHA:500095
Gm1-Gangliosidosis, Type Ii
Beaking of vertebral bodies, Sea-blue histiocytosis, Hepatomegaly, Platyspondyly, Scoliosis, Spas... OMIM:230600
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy, Leukocytosis, Neutrophilia, Eosinophilia, Renal insufficiency, Neutropenia ORPHA:293173
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Muscular dystrophy, Skeletal muscle hypertrophy, Scoliosis, Elevated circulating creatine kinase ... OMIM:613150
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Prolonged prothrombin time, Jaundice, Giant cell hepatitis, Hepatomegaly, Cholestasis, P... ORPHA:79303
Peroxisome Biogenesis Disorder 11B
Cataract, Hepatosplenomegaly OMIM:614885
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Splenomegaly, Portal hypertension OMIM:617068
Late-Infantile/Juvenile Krabbe Disease
Acroparesthesia, Lower limb spasticity, Impaired tactile sensation, Tetraplegia, Tremor, Upper mo... ORPHA:206443
Congenital Pulmonary Lymphangiectasia
Growth delay, Cyanosis ORPHA:2414
Refsum Disease
Hammertoe, Cardiomyopathy, Short metacarpal, Hemiplegia/hemiparesis, Ataxia, Splenomegaly, Skelet... ORPHA:773
Combined Oxidative Phosphorylation Deficiency 10
Spasticity, Hyperalaninemia, Ascites, Hypertrophic cardiomyopathy, Hyperammonemia, Pericardial ef... OMIM:614702
Atelis Syndrome 1
Hypertonia, Anemia, Thrombocytopenia, Leukopenia, Atrial septal defect, Ventricular septal defect OMIM:620184
Infantile Liver Failure Syndrome 3
Prolonged prothrombin time, Jaundice, Hepatomegaly, Cholestasis, Hepatic bridging fibrosis, Splen... OMIM:618641
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Normochromic anemia, Hyperhomocystinemia, Failure to thrive, Elevated cir... OMIM:614857
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Congenital Neuronal Ceroid Lipofuscinosis
Respiratory failure, Neonatal respiratory distress ORPHA:168486
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Enlarged kidney, Hepatomegaly, Anemia, Tubulointerstitial fibrosis, Chronic neutropenia, Nephroli... ORPHA:79259
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Cardiomyopathy, Sideroblastic anemia, Thrombocytopenia, Ataxia, Atrial se... OMIM:249270
Joubert Syndrome 22
Intrauterine growth retardation, Microphthalmia OMIM:615665
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Rigidity, Dystonia, Parkinsonism, Ab... OMIM:213600
Developmental And Epileptic Encephalopathy 46
Failure to thrive, Tremor, Limb hypertonia OMIM:617162
Shigellosis
Myocarditis, Purpura, Splenic abscess, Cholestasis, Leukocytosis, Hyponatremia, Rhabdomyolysis, T... ORPHA:810
Letterer-Siwe Disease
Jaundice, Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia OMIM:246400
Intrahepatic Cholestasis Of Pregnancy
Neonatal respiratory distress, Abnormal circulating interleukin concentration ORPHA:69665
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Scleromyxedema
Elevated circulating creatine kinase concentration, Abnormal skeletal muscle morphology, Myopathy ORPHA:167635
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Calf mus... ORPHA:79086
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Acute rhabdomyolysis, Babinski sign, Hypertonia, Abnormality of extrapyramidal motor function, In... ORPHA:480864
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia, Spasticity, Tremor, Broad thumb, Abnormal heart morphology, Brac... OMIM:300978
Schimke Immuno-Osseous Dysplasia
Anemia, Pancreatitis, Abnormal proportion of naive CD4 T cells, Wide capital femoral epiphyses, A... ORPHA:1830
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Hypertonia, Scoliosis, Spasticity, Failure to thrive, Thrombocytopenia OMIM:616577
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Lower limb amyotrophy, Fasciculations, Upper limb muscle weakness, Congenital finger flexion cont... ORPHA:466768
Schwartz-Jampel Syndrome
Flexion contracture of toe, Cachexia, Hyperlordosis, Wrist flexion contracture, Kyphosis, Abnorma... ORPHA:800
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis, Splenic cyst OMIM:618188
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematemesis, Gastrointestinal hemorrhage, Vitreous hemorrhage, Muscle hemorrhage, Melena, Osteoly... ORPHA:464321
Hyperphenylalaninemia, Bh4-Deficient, B
Hyperkinetic movements, Limb hypertonia, Tremor, Hyperphenylalaninemia, Rigidity, Dystonia, Chore... OMIM:233910
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Prolonged prothrombin time, Abnormal bleeding, Epiphyseal stippling, Joint hemorrhage, Epistaxis,... OMIM:277450
Camurati-Engelmann Disease
Abnormal femur morphology, Cachexia, Hyperlordosis, Kyphosis, Leukopenia, Splenomegaly, Ataxia, C... ORPHA:1328
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Enlarged kidney, Polycystic kidney dysplasia, Recurrent urinary tract infect... ORPHA:731
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Hypokalemia, Impaired platelet aggregation, Hypochloremia, Increased serum pros... OMIM:241200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Muscular dystrophy, Increased variability in muscle fiber diameter, Elevated circulating creatine... OMIM:616538
Meckel Syndrome, Type 2
Microphthalmia, Anencephaly, Encephalocele, Meningocele, Intrauterine growth retardation OMIM:603194
Immunodeficiency 92
Hepatomegaly, Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytop... OMIM:619652
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Congenital Disorder Of Glycosylation, Type Ia
Prolonged prothrombin time, Hepatomegaly, Tremor, Cardiomyopathy, Kyphosis, Intention tremor, Hyp... OMIM:212065
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Ventricular septal defect, Ascites, Sideroblastic anem... OMIM:617021
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Neuroleptic Malignant Syndrome
Hyperkalemia, Oculogyric crisis, Hyperuricemia, Hypocalcemia, Chorea, Extrapyramidal muscular rig... ORPHA:94093
Cirrhotic Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Left atrial enlargement, Cirrhosis... ORPHA:57777
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Microphthalmia, Short stature ORPHA:48431
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Roifman Syndrome
Eosinophilia, Noncompaction cardiomyopathy, Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Wolfram Syndrome
Gastrointestinal hemorrhage, Anemia, Cardiomyopathy, Abnormal mesentery morphology, Ataxia, Myopathy ORPHA:3463
Dyskeratosis Congenita, Autosomal Dominant 2
Aplastic anemia, Pancytopenia, Osteoporosis, Bone marrow hypocellularity, Leukopenia, Thrombocyto... OMIM:613989
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Oligoarticular Juvenile Idiopathic Arthritis
Increased circulating interferon-gamma concentration, Abnormal circulating interleukin concentration ORPHA:85410
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co... OMIM:615234
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatomegaly, Hyperkinetic movements, Chorea, Scoliosis, Hyperlordosis, Truncal ataxia, Tremor, A... OMIM:615356
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Anemia, Portal fibrosis, Hepatomegaly, H... ORPHA:264580
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Persistent Hyperplastic Primary Vitreous
Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys... ORPHA:91495
Paramyotonia Congenita Of Von Eulenburg
Abnormal blood potassium concentration, Periodic hypokalemic paresis, EMG: myopathic abnormalitie... ORPHA:684
Pseudo-Torch Syndrome 1
Jaundice, Hepatomegaly, Petechiae, Spasticity, Patent foramen ovale, Failure to thrive, Dystonia,... OMIM:251290
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal... OMIM:616278
Adams-Oliver Syndrome
Cirrhosis, Gastrointestinal hemorrhage, Hypertonia, Abnormal metacarpal morphology, Finger syndac... ORPHA:974
Lig4 Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Hypoplasia of penis, Pancytopenia, Leukocytosis ORPHA:99812
Spinocerebellar Ataxia 48
Babinski sign, Chorea, Cachexia, Tremor, Gait ataxia, Dystonia, Ataxia, Parkinsonism, Dysmetria OMIM:618093
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Anemia, Hepatomegaly, Hepatocellular car... ORPHA:79240
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Cataract 47
Cataract, Glycosuria, Microcornea OMIM:612018
Spherocytosis, Type 4
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Aicardi-Goutieres Syndrome 7
Hematemesis, Tetraplegia, Spastic tetraparesis, Hematochezia, Splenomegaly, Hepatic steatosis, Hy... OMIM:615846
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Neuropathy, Congenital Hypomyelinating, 3
Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:618186
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy, Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells OMIM:617099
Congenital Enterovirus Infection
Myocarditis, Abnormal bleeding, Anemia, Abnormal macrophage morphology, Cholestasis, Leukocytosis... ORPHA:292
Immunodeficiency 82 With Systemic Inflammation
Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, B lymphocytopenia... OMIM:619381
Parkinson Disease 14, Autosomal Recessive
Hypomimic face, Eyelid myoclonus, Pill-rolling tremor, Bradykinesia, Axial dystonia, Resting trem... OMIM:612953
Wilson Disease
Portal fibrosis, Parkinsonism with favorable response to dopaminergic medication, Ascites, Limb d... OMIM:277900
Spherocytosis, Type 2
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat... OMIM:266200
Tricuspid Atresia
Cyanosis ORPHA:1209
Primary Dystonia, Dyt2 Type
Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involuntary movements, Gener... ORPHA:99657
12Q14 Microdeletion Syndrome
Clinodactyly of the 5th finger, Scoliosis, Tremor, Failure to thrive, Abnormality of the spleen, ... ORPHA:94063
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Myopathy ORPHA:257
Non-Specific Early-Onset Epileptic Encephalopathy
Limb hypertonia, Spasticity, Tremor, Involuntary movements, Failure to thrive, Rigidity, Abnormal... ORPHA:442835
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Kyphoscoliosis, Abnormal thumb morphology, Abnormal atrioventricular valve morphology, Aortic val... ORPHA:324410
Oculoskeletodental Syndrome
Hepatomegaly, Hypocalcemia, Scoliosis, Elbow flexion contracture, Thoracic kyphosis, Hypercalcemi... OMIM:618440
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... OMIM:620642
Xanthinuria, Type I
Hypouricemia, Hyperxanthinemia, Myopathy OMIM:278300
Whipple Disease
Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Anemia, Myos... ORPHA:3452
Usher Syndrome
Hypertrophic cardiomyopathy, Ataxia, Myopathy, Vestibular areflexia ORPHA:886
Glycogen Storage Disease Xv
Cardiomyocyte hypertrophy, Type 1 muscle fiber predominance, Scapular winging OMIM:613507
Mucopolysaccharidosis Type 6
Abnormal metaphysis morphology, Genu valgum, Abnormal heart valve morphology, Kyphosis, Failure t... ORPHA:583
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Hepatomegaly, Pancreatitis, Methylmalonic acidemia, Cardiomyopathy, Hypera... OMIM:251000
Tay-Sachs Disease
Hip flexor weakness, Ankle clonus, Fasciculations, Incoordination, Decerebrate rigidity, Tremor, ... ORPHA:845
Myasthenic Syndrome, Congenital, 19
Increased variability in muscle fiber diameter, Facial palsy OMIM:616720
Histiocytosis-Lymphadenopathy Plus Syndrome
Rocker bottom foot, Flexion contracture of toe, Joint contracture of the 5th finger, Pulmonic ste... OMIM:602782
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Short stature, Microphthalmia OMIM:251270
X-Linked Agammaglobulinemia
Anemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Thrombocytopenia, Recurr... ORPHA:47
Retinitis Pigmentosa 84
Cataract, Macular coloboma, Bone spicule pigmentation of the retina, Macular atrophy OMIM:618220
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis OMIM:619658
Niemann-Pick Disease, Type C2
Sea-blue histiocytosis, Death in childhood, Respiratory insufficiency, Bone-marrow foam cells, De... OMIM:607625
Majeed Syndrome
Hepatomegaly, Hypochromic microcytic anemia, Cachexia, Leukocytosis, Failure to thrive, Splenomeg... ORPHA:77297
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure OMIM:312170
Xeroderma Pigmentosum, Complementation Group F
Scoliosis, Tremor, Decreased body weight, Ataxia, Flexion contracture OMIM:278760
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory failure, Megaloblastic anemia, Neutropenia OMIM:250940
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Anisocytosis, ... OMIM:300908
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Congenital Disorder Of Glycosylation, Type It
Prolonged prothrombin time, Intrahepatic cholestasis, Hepatomegaly, Increased hepatic glycogen co... OMIM:614921
Severe Congenital Nemaline Myopathy
Abnormality of the diaphragm, Facial diplegia, Facial palsy, Nemaline bodies, Arthrogryposis mult... ORPHA:171430
Systemic Lupus Erythematosus
Thrombocytopenia, Leukopenia, Hemolytic anemia OMIM:152700
Legionnaires Disease
Myocarditis, Hematuria, Lymphadenopathy, Bone marrow hypocellularity, Pericarditis, Endocarditis,... ORPHA:549
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatomegaly, Splenomegaly, Pericarditis ORPHA:85414
Dyskeratosis Congenita, Autosomal Dominant 3
Aplastic anemia, Osteopenia, Gastrointestinal hemorrhage, Anemia, Macrocytic anemia, Pancytopenia... OMIM:613990
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Abnormal bleeding, Increased circulating antibody level, Melena, Acu... ORPHA:319218
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Talipes equinovarus, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance, Congenital co... OMIM:619036
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Alpha-Mannosidosis, Infantile Form
Genu valgum, Facial hypotonia, Pancytopenia, Clumsiness, Bilateral coxa valga, Bilateral talipes ... ORPHA:309282
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:614299
Aniridia 2
Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma OMIM:617141
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure ORPHA:70472
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Respiratory failure, Neonatal death, Death in infancy OMIM:605711
Ectopia Lentis Et Pupillae
Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,... OMIM:225200
Farber Lipogranulomatosis
Lipogranulomatosis, Hepatomegaly, Osteolytic defects of the phalanges of the hand, Splenomegaly, ... OMIM:228000
Presynaptic Congenital Myasthenic Syndromes
Kyphoscoliosis, Distal lower limb muscle weakness, Frontalis muscle weakness, Distal amyotrophy, ... ORPHA:98914
Congenital Myasthenic Syndrome
Kyphoscoliosis, Distal lower limb muscle weakness, Frontalis muscle weakness, Distal amyotrophy, ... ORPHA:590
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Combined Oxidative Phosphorylation Deficiency 32
Kyphoscoliosis, Spasticity, Tremor, Joint contracture, Dystonia, Choreoathetosis OMIM:617664
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres... OMIM:600802
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, T lymphocytopenia,... ORPHA:35078
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Acquired Von Willebrand Syndrome
Prolonged prothrombin time, Normocytic anemia, Gastrointestinal hemorrhage, Melena, Subcutaneous ... ORPHA:99147
Alg9-Cdg
Irritability, Enlarged kidney, Hepatomegaly, Atrial septal defect, Abnormal left ventricular outf... ORPHA:79328
Neuromuscular Oculoauditory Syndrome
Calf muscle hypertrophy, EMG: myopathic abnormalities, Muscle fiber necrosis, Wrist flexion contr... OMIM:618733
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Harderoporphyria
Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia OMIM:618892
Peripartum Cardiomyopathy
Increased circulating interferon-gamma concentration, Respiratory failure, Anemia ORPHA:563
Mogs-Cdg
Hepatomegaly, Dystonia, Thrombocytopenia, Hepatosplenomegaly, Left ventricular hypertrophy, Cardi... ORPHA:79330
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:83469
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Limb hypertonia, Scoliosis, Spasticity, Limb dystonia, Thrombocytopenia, High nonceruloplasmin-bo... ORPHA:457351
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Gastrointestinal hemorrhage, Large for gestational age, Abnormal heart val... ORPHA:363705
Dominant Beta-Thalassemia
Splenomegaly, Decreased mean corpuscular volume, Jaundice, Hepatocellular carcinoma, Anisocytosis... ORPHA:231226
Recon Progeroid Syndrome
Anemia, Proximal placement of thumb, Arachnodactyly, Thrombocytopenia, Skeletal muscle atrophy, L... OMIM:620370
Shwachman-Diamond Syndrome 2
Prolonged prothrombin time, Normocytic anemia, Hepatomegaly, Hyperechogenic pancreas, Exocrine pa... OMIM:617941
New-Onset Refractory Status Epilepticus
Abnormal circulating interleukin concentration ORPHA:363558
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Thin metacarpal cortices, Lumbar hemivertebrae, Thin metatarsal cortices, Hypoplasia of the muscu... ORPHA:2463
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Gaucher Disease
Decreased HDL cholesterol concentration, Oculomotor apraxia, Leukopenia, Splenomegaly, Ataxia, Ab... ORPHA:355
Good Syndrome
Mediastinal lymphadenopathy, Anemia, Abnormal leukocyte morphology, Decreased circulating antibod... ORPHA:169105
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux, Cardiomyopathy, Nephr... OMIM:130650
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia, Scoliosis, Broad thumb, Skeletal muscle atrophy, Intracranial hemorrhage, Subcutaneous ... ORPHA:109
Hyper-Igd Syndrome
Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele... OMIM:260920
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Neonatal cholestatic liver disease, Splenomegaly OMIM:214900
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Abnormal bleeding, Elbow flexion contracture, Thoracic kyphoscoliosis, EMG: myopathic abnormaliti... ORPHA:1900
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Myositis, Scoliosis, Hyperlordosis, Facial palsy, Cardiomyopathy, Decreased b... ORPHA:258
Glycogen Storage Disease Ia
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Focal segme... OMIM:232200
Myasthenia, Limb-Girdle, Autoimmune
Mildly elevated creatine kinase, Proximal amyotrophy, Thymoma, Type 2 muscle fiber atrophy OMIM:159400
Lissencephaly 8
Occipital encephalocele, Microphthalmia OMIM:617255
Alg12-Cdg
Prolonged prothrombin time, Muscular ventricular septal defect, Clinodactyly of the 5th finger, P... ORPHA:79324
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R... OMIM:224120
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Kyphoscoliosis, Skeletal muscle atrophy, Patent ductus arteriosus, Bruising susceptibility, Type ... OMIM:614557
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Lateral displacement of the femoral head, Anemia, Talipes equinovarus... OMIM:242900
Genetic Recurrent Myoglobinuria
Hyperkalemia, Proximal muscle weakness in upper limbs, Abnormality of jaw muscles, Myositis, Hypo... ORPHA:99845
Charcot-Marie-Tooth Disease Type 4B2
Kyphoscoliosis, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Dista... ORPHA:99956
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons... OMIM:606367
Mannosidosis, Alpha B, Lysosomal
Limb ataxia, Babinski sign, Hepatomegaly, Increased vertebral height, Vacuolated lymphocytes, Spa... OMIM:248500
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly,... OMIM:261740
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Abnormality of the lymphatic system, Enlarged kidney ORPHA:276280
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Death in childhood, Anemia OMIM:615838
Noonan Syndrome
Osteopenia, Juvenile myelomonocytic leukemia, Hepatomegaly, Abnormal bleeding, Abnormality of the... ORPHA:648
Aromatic L-Amino Acid Decarboxylase Deficiency
Babinski sign, Oculogyric crisis, Limb hypertonia, Tremor, Failure to thrive, Joint contracture, ... ORPHA:35708
Dyskeratosis Congenita, Autosomal Recessive 1
Aplastic anemia, Pancytopenia, Osteoporosis, Bone marrow hypocellularity, Thrombocytopenia, Hepat... OMIM:224230
Mitochondrial Dna-Associated Leigh Syndrome
Hypertonia, Hepatomegaly, Ragged-red muscle fibers, Chorea, Spasticity, Hyperalaninemia, Hypertro... ORPHA:255210
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Leigh Syndrome
Respiratory insufficiency, Respiratory failure OMIM:256000
Mitochondrial Complex I Deficiency, Nuclear Type 1
Babinski sign, Hepatomegaly, Concentric hypertrophic cardiomyopathy, Ragged-red muscle fibers, To... OMIM:252010
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia OMIM:614520
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Broad thumb, Bilateral radial aplasia, Prolonged bleeding following circumcision,... OMIM:274000
Microphthalmia/Coloboma 12
Vesicoureteral reflux, Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve apla... OMIM:120200
Bacterial Toxic-Shock Syndrome
Myocarditis, Myositis, Hypocalcemia, Increased circulating myelocyte count, Elevated circulating ... ORPHA:36234
Congenital Myopathy 17
Overlapping fingers, Tapered finger, Failure to thrive in infancy, Hand clenching, Distal arthrog... OMIM:618975
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Mucopolysacchariduria, Splenomegaly, ... OMIM:252500
Denys-Drash Syndrome
Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero... OMIM:194080
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis, Elevated circulating C-reactive protein concentration ORPHA:1302
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Death in childhood, Respiratory insufficiency, Leukocytosis, Reticulocy... OMIM:618278
Diamond-Blackfan Anemia 1
Hypoplastic coccygeal vertebrae, Macrocytic anemia, Absent thumb, Hypoplastic sacral vertebrae, C... OMIM:105650
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Prolonged prothrombin time, Oculomotor apraxia, Hypotriglyceridemia, Chorea, Lingual dystonia, Ac... ORPHA:404454
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Drug-Induced Lupus Erythematosus
Anemia, Elevated circulating C-reactive protein concentration, Petechiae, Elevated circulating cr... ORPHA:231111
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Congenital diaphragmatic hernia, Sandal gap, Enlarged metaphyses, Dislocated radial head, Mitral ... OMIM:245600
Takenouchi-Kosaki Syndrome
Proximal placement of thumb, Scoliosis, Tapered finger, Camptodactyly, Pulmonic stenosis, Increas... OMIM:616737
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membrane, Remnants of t... OMIM:221900
Ciliary Dyskinesia, Primary, 5
Respiratory failure, Neonatal respiratory distress, Respiratory insufficiency due to defective ci... OMIM:608647
Beta-Thalassemia Major
Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume, Jaundice, Hepat... ORPHA:231214
Warburg Micro Syndrome 1
Short stature, Microphthalmia OMIM:600118
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly, Glomerulonephritis ORPHA:99931
Multiple Endocrine Neoplasia, Type Iib
Scoliosis, Hyperlordosis, Kyphosis, Failure to thrive in infancy, Myopathy, Proximal femoral epip... OMIM:162300
Meckel Syndrome, Type 5
Occipital encephalocele, Microphthalmia, Anencephaly OMIM:611561
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... OMIM:233710
Pierpont Syndrome
Short stature, Microphthalmia OMIM:602342
Congenital Heart Block
Intrauterine growth retardation, Cyanosis ORPHA:60041
Caroli Syndrome
Hematemesis, Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Pancreatitis, Hepatomega... ORPHA:480520
Tangier Disease
Hypertriglyceridemia, Anemia, Impaired temperature sensation, Facial diplegia, Chronic noninfecti... ORPHA:31150
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Anemia, Reduced hematocrit, Anemia of inadequate production, Persistence of hemoglo... OMIM:613673
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Osteoporosis, Bone marrow ... OMIM:127550
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Immunodeficiency 47
Decreased circulating total IgG, Normocytic anemia, Cirrhosis, Hepatomegaly, Accessory spleen, Ch... OMIM:300972
Meckel Syndrome, Type 4
Microphthalmia, Anencephaly, Encephalocele, Meningocele, Intrauterine growth retardation OMIM:611134
Pontocerebellar Hypoplasia Type 1
Respiratory failure ORPHA:2254
Immunodeficiency 40
Hepatomegaly, Macrovesicular hepatic steatosis, Reduced antigen-specific T cell proliferation, Eo... OMIM:616433
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Growth delay, Cyanosis OMIM:250800
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari... OMIM:618849
Combined Oxidative Phosphorylation Deficiency 58
Appendicular spasticity, Ragged-red muscle fibers, Hyperalaninemia, Exaggerated startle response,... OMIM:620451
Dystonia 13, Torsion, Autosomal Dominant
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim... OMIM:607671
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Hepatomegaly, Congenital megaureter, Hypercalciuria, Vesic... ORPHA:116
Kagami-Ogata Syndrome
Kyphoscoliosis, Hepatomegaly, Diastasis recti, Pulmonic stenosis, Long fingers, Limb undergrowth,... OMIM:608149
Shwachman-Diamond Syndrome
Aplastic anemia, Macrocytic anemia, Abnormal finger morphology, Chronic neutropenia, Bone marrow ... ORPHA:811
Immunodeficiency 55
Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia OMIM:617827
Hereditary Xanthinuria
Hyperxanthinemia, Myopathy, Hypouricemia ORPHA:3467
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia ORPHA:1068
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia, Short foot, Myopathy, Small hand ORPHA:2323
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia OMIM:618398
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Intrauterine growth retardation, Microphthalmia, Rhizomelia, Short stature OMIM:300863
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure OMIM:619483
Cerebrooculofacioskeletal Syndrome 2
Intrauterine growth retardation, Microphthalmia, Growth delay OMIM:610756
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis OMIM:263000
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Hepatomegaly, Periportal fibrosis, Hyperbilirubinemia, Ascites, Portal hypertension, He... OMIM:251880
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Anemia, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Hip contracture, Posterior sc... ORPHA:3042
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Hepatomegaly, Hematuria, Lymphadenopathy, Abnormal heart valve morphology, Perica... ORPHA:36412
Immunodeficiency 22
Anemia, Decreased circulating IgE, Ascites, Decreased circulating IgG level, Decreased proportion... OMIM:615758
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Increased vertebral height, Pancytopenia, Thoracic kyphoscoliosis, Portal hypertens... OMIM:613385
Restrictive Dermopathy 2
Intrauterine growth retardation, Cyanosis OMIM:619793
Cystinosis, Nephropathic
Hepatomegaly, Genu valgum, Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, De... OMIM:219800
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Elevated circulating creatine kinase concentration, Hypertrophic ... ORPHA:308552
Diamond-Blackfan Anemia
Abnormality of the thenar eminence, Normochromic anemia, Macrocytic dyserythropoietic anemia, Abn... ORPHA:124
Ogden Syndrome
Left atrial enlargement, Irritability, Enlarged kidney, Perimembranous ventricular septal defect,... OMIM:300855
Hypermanganesemia With Dystonia 1
Bradykinesia, Cirrhosis, Hepatomegaly, Increased total iron binding capacity, Abnormality of extr... OMIM:613280
Wolfram Syndrome 1
Megaloblastic anemia, Tremor, Cardiomyopathy, Sideroblastic anemia, Thrombocytopenia, Ataxia, Lim... OMIM:222300
Blue Rubber Bleb Nevus
Abnormality of the liver, Thrombocytopenia, Iron deficiency anemia, Intestinal bleeding OMIM:112200
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... OMIM:233690
Hyperimmunoglobulinemia D With Periodic Fever
Purpura, Increased circulating IgA level, Growth delay, Urticaria, Acrocyanosis, Erythema ORPHA:343
Developmental And Epileptic Encephalopathy 95
Short 4th metacarpal, Hepatomegaly, Clinodactyly of the 5th finger, Multiple joint contractures, ... OMIM:618143
Classic Progressive Supranuclear Palsy Syndrome
Bradykinesia, Axial dystonia, Progressive extrapyramidal muscular rigidity, Parkinsonism with fav... ORPHA:240071
American Trypanosomiasis
Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly ORPHA:3386
Pierpont Syndrome
Microphthalmia ORPHA:487825
Alg1-Cdg
Respiratory failure ORPHA:79327
Aicardi-Goutières Syndrome
Hypertonia, Chronic lymphatic leukemia, Myositis, Abnormality of extrapyramidal motor function, N... ORPHA:51
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... OMIM:185000
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Scrub Typhus
Myocarditis, Lymphadenopathy, Renal insufficiency, Splenomegaly ORPHA:83317
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Hypertrophic cardiomyopathy, Ventricular hypertrophy, Mental deterioration OMIM:619051
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Distal sensory impairment, Ragged-red muscle fibers, Cachexia, Distal amyotrophy, Slender build, ... OMIM:603041
Sialuria
Hepatomegaly, Scoliosis, 2-3 toe syndactyly, Poor fine motor coordination, Long hallux, Splenomeg... OMIM:269921
Alpha-N-Acetylgalactosaminidase Deficiency
Scoliosis, Spasticity, Tetraplegia, Clonus, Cardiomegaly ORPHA:3137
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr... ORPHA:436159
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Malignant Hyperthermia Of Anesthesia
Acute rhabdomyolysis, Hyperkalemia, Abnormality of masseter muscle, Necrotizing myopathy, Cardiom... ORPHA:423
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Hurler-Scheie Syndrome
Hepatomegaly, Scoliosis, Kyphosis, Camptodactyly of finger, Thenar muscle atrophy, Splenomegaly, ... OMIM:607015
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Anemia, Methylmalonic acidemia, Pancytopenia, Tremor, Hyperammonemia, Failure to th... OMIM:251100
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Respiratory failure, Death in infancy ORPHA:1194
Oculogastrointestinal Neurodevelopmental Syndrome
Short stature, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Corneal guttata, Snowflake vitreoretinal degeneration OMIM:193230
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Fused cervical vertebrae, Clinodactyly of the 5th finger, Finger syndactyly, Apl... ORPHA:3320
Sepsis In Premature Infants
Abnormal bleeding, Jaundice, Anemia, Hepatomegaly, Purpura, Elevated circulating C-reactive prote... ORPHA:90051
Hellp Syndrome
Prolonged prothrombin time, Decreased mean corpuscular hemoglobin concentration, Internal hemorrh... ORPHA:244242
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Prolonged prothrombin time, Abnormal bleeding, Epistaxis OMIM:610842
Japanese Encephalitis
Pill-rolling tremor, Distal lower limb muscle weakness, Hypertonia, Paralysis, Respiratory paraly... ORPHA:79139
Neutrophilic Dermatosis, Acute Febrile
Increased circulating interleukin 6 concentration, Anemia OMIM:608068
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Increased B cell count, Absent peripheral lymph nodes in presence of infection, Increased T cell ... ORPHA:98813
Down Syndrome
Atrioventricular canal defect, Clinodactyly of the 5th finger, Sandal gap, Impaired pain sensatio... ORPHA:870
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Thrombocytopenia OMIM:300048
Amyloidosis, Hereditary, Transthyretin-Related
Limb ataxia, Paraplegia, Truncal ataxia, Spasticity, Tremor, Positive Romberg sign, Cardiomyopath... OMIM:105210
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Lymphadenopathy, Hepatosplenomegaly, Microcytic anemia OMIM:619750
Hemochromatosis, Type 1
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:235200
Surfactant Metabolism Dysfunction, Pulmonary, 1
Respiratory failure, Neonatal respiratory distress, Neonatal death, Death in infancy OMIM:265120
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Abnormal platelet function, Short stature, Hypoc... ORPHA:79443
Hsd10 Disease, Infantile Type
Hyperkinetic movements, Spastic tetraparesis, Hypertrophic cardiomyopathy, Hyperammonemia, Dyston... ORPHA:391428
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis OMIM:248910
Localized Scleroderma
Sclerosis of finger phalanx, Flexion contracture, Myopathy, Skeletal muscle atrophy ORPHA:90289
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia OMIM:618838
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Genu valgum, Anemia, Metaphyseal sclerosis, Abnormality of extrapyramidal motor function, Scolios... OMIM:612199
Developmental And Epileptic Encephalopathy 1
Growth delay, Microphthalmia OMIM:308350
Kyphoscoliotic Ehlers-Danlos Syndrome
Kyphoscoliosis, Congenital kyphoscoliosis, Dextrocardia, Scoliosis, Subdural hemorrhage, Arachnod... ORPHA:536545
Pediatric-Onset Graves Disease
Jaundice, Hepatomegaly, Hyperkinetic movements, Neutropenia in presence of anti-neutropil antibod... ORPHA:525731
Methylmalonic Aciduria, Cblb Type
Elevated circulating methylmalonylcarnitine concentration, Hepatomegaly, Anemia, Methylmalonic ac... OMIM:251110
Linear Skin Defects With Multiple Congenital Anomalies 2
Short stature, Microphthalmia OMIM:300887
Agammaglobulinemia, X-Linked
Anemia, B lymphocytopenia, Recurrent urinary tract infections, T lymphocytopenia, Lymph node hypo... OMIM:300755
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Splen... OMIM:607765
Pseudo-Torch Syndrome 2
Hepatomegaly, Petechiae, Ascites, Thrombocytopenia, Cerebral hemorrhage OMIM:617397
Congenital Primary Aphakia
Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita... ORPHA:83461
Wolcott-Rallison Syndrome
Hepatomegaly, Iron deficiency anemia, Lymphocytosis, Chronic kidney disease, Double outlet right ... ORPHA:1667
Lymphatic Filariasis
Abnormality of the kidney, Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Ab... ORPHA:2035
High Altitude Pulmonary Edema
Hypoxemia, Cyanosis ORPHA:330012
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Leukocytosis ORPHA:83601
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Bresek Syndrome
Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia, Growth delay ORPHA:85284
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Hyperalaninemia, Cardiomegaly, Failure to thrive in infancy, Hyperprolinemia OMIM:619064
Gaucher Disease Type 3
Hepatomegaly, Anemia, Increased circulating antibody level, Pancytopenia, Increased bone mineral ... ORPHA:77261
Sialuria
Prolonged prothrombin time, Hepatomegaly, Hepatosplenomegaly, Cholelithiasis ORPHA:3166
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation ORPHA:171844
Bone Marrow Failure Syndrome 3
Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Reduced bone mineral de... OMIM:617052
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Seckel Syndrome 2
Short stature, Microphthalmia, Growth delay OMIM:606744
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Anemia, Bone marrow hypocellularity ORPHA:3322
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis OMIM:613091
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Respiratory failure, Ventilator dependence with inability to wean OMIM:604320
Congenital Fiber-Type Disproportion Myopathy
Kyphoscoliosis, Ankle flexion contracture, Weakness of facial musculature, Talipes equinovarus, H... ORPHA:2020
Porphyria, Congenital Erythropoietic
Osteopenia, Jaundice, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Splenomegaly, Osteolysis, R... OMIM:263700
Congenital Syphilis
Periostitis, Purpura, Pancreatitis, Anemia, Lymphadenopathy, Petechiae, Prolonged neonatal jaundi... ORPHA:499009
Myotonic Dystrophy 2
Elevated circulating creatine kinase concentration, Sternocleidomastoid amyotrophy, Generalized a... OMIM:602668
Stromme Syndrome
Preaxial polydactyly, Myopathy, Accessory spleen OMIM:243605
Primary Pulmonary Hypoplasia
Intrauterine growth retardation, Hypoxemia, Cyanosis ORPHA:2257
Metatropic Dysplasia
Respiratory insufficiency, Respiratory failure OMIM:156530
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Holocarboxylase Synthetase Deficiency
Hyperammonemia, Thrombocytopenia, Ataxia, Weight loss ORPHA:79242
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Short stature, Optic nerve hypoplasia, Microphthalmia, Mild short stature OMIM:614833
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Aicardi-Goutieres Syndrome 1
Purpura, Hepatomegaly, Petechiae, Prolonged neonatal jaundice, Thrombocytopenia, Splenomegaly OMIM:225750
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Anterior beaking of lumbar vertebrae, Platyspondyly, Genu valgum, Abnormal heart va... OMIM:253220
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Flexion contracture of toe, Flexio... OMIM:256040
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1438
Kikuchi-Fujimoto Disease
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Lymphocytosis... ORPHA:50918
Neurodegeneration And Seizures Due To Copper Transport Defect
Limb hypertonia, Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper co... OMIM:620306
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Fanconi Anemia, Complementation Group E
Anemia, Pancytopenia, Reticulocytopenia, Complete duplication of thumb phalanx, Abnormal heart mo... OMIM:600901
Immunodeficiency 68
Abnormal natural killer cell count, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Abscess OMIM:612260
Baraitser-Winter Syndrome 2
Short stature, Microphthalmia OMIM:614583
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Rhizomelia ORPHA:93267
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Mucopolysaccharidosis Type 1
Abnormal metaphysis morphology, Abnormal aortic valve morphology, Abnormal form of the vertebral ... ORPHA:579
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Kyphoscoliosis, Atrial septal defect, Scoliosis, Tremor, Patent foramen ovale, Ventricular septal... OMIM:300967
Pelvis-Shoulder Dysplasia
Short stature, Microphthalmia, Spina bifida occulta OMIM:169550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Myocardial fibrosis, Cardiomegaly, Nephroblastoma OMIM:253250
Wolman Disease
Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly ORPHA:75233
Fixed Subaortic Stenosis
Bicuspid aortic valve, Atrioventricular canal defect, Bacterial endocarditis, Pulmonic stenosis, ... ORPHA:3092
Immunodeficiency 31C
Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut... OMIM:614162
Corticobasal Syndrome
Bradykinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigidity, Tremo... ORPHA:454887
Interstitial Cystitis
Abnormality of tumor necrosis factor secretion ORPHA:37202
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect, Facial hypotonia OMIM:618798
Stormorken-Sjaastad-Langslet Syndrome
Purpura, Abnormality of thrombocytes, Anemia, Asplenia ORPHA:3204
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Microphallus OMIM:612651
Glycogen Storage Disease Due To Acid Maltase Deficiency
Glycogen accumulation in muscle fiber lysosomes, Hepatomegaly, Facial hypotonia, Scoliosis, Hyper... ORPHA:365
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Neuroblastoma
Abnormal bleeding, Anemia, Lymphadenopathy, Abdominal mass, Thrombocytopenia, Ataxia, Weight loss... ORPHA:635
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic... OMIM:617394
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Periostitis, Osteopenia, Hepatomegaly, Neutrophilia, Splenomegaly, Abscess, Osteolysis OMIM:612852
Adult-Onset Autosomal Dominant Leukodystrophy
Spastic gait, Impaired distal vibration sensation, Gait ataxia, Action tremor, Head titubation, A... ORPHA:99027
Frontonasal Dysplasia 1
Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele OMIM:136760
21Q22.11Q22.12 Microdeletion Syndrome
Atrial septal defect, Anemia, Cone-shaped epiphyses of the phalanges of the hand, Camptodactyly, ... ORPHA:261323
Multiple Sulfatase Deficiency
Optic atrophy, Hepatomegaly, Corneal opacity, Mucopolysacchariduria, Abnormality of retinal pigme... ORPHA:585
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Lymphadenopathy, Memory impairment, Splenomegaly, Abnormality of... ORPHA:33226
Zika Virus Disease
Increased circulating IgM level, Subcutaneous hemorrhage, Thrombocytopenia ORPHA:448237
Staphylococcal Necrotizing Pneumonia
Respiratory failure, Neutrophilia, Leukopenia, Leukocytosis ORPHA:36238
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Portal inflammation... OMIM:602347
Noonan Syndrome 4
Large for gestational age, Abnormal bleeding, Scoliosis, Hypertrophic cardiomyopathy, Pulmonic st... OMIM:610733
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... ORPHA:2334
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, Megakaryocyte dysplasia, B lymphocytopenia, Reticulocytopenia, Bone marrow hypocellularit... ORPHA:508542
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma ORPHA:615
Adams-Oliver Syndrome 6
Renal hypoplasia, Hepatic fibrosis, Splenomegaly, Portal hypertension OMIM:616589
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Cyanosis ORPHA:70587
Niemann-Pick Disease Type C
Chorea, Ascites, Limb dystonia, Ataxia, Splenomegaly, Myoclonus, Clumsiness, Jaundice, Axial dyst... ORPHA:646
Mucopolysaccharidosis Type 3
Hypertonia, Hepatomegaly, Genu valgum, Abnormal aortic valve morphology, Recurrent tonsillitis, A... ORPHA:581
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Nephroblastoma
Nephroblastoma, Hematuria, Lymphadenopathy ORPHA:654
Oculoauriculovertebral Spectrum With Radial Defects
Atrioventricular canal defect, Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, EMG: myopath... ORPHA:2549
Acute Interstitial Pneumonia
Hypoxemia, Elevated circulating creatinine concentration, Cyanosis, Elevated circulating C-reacti... ORPHA:79126
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hepatomegaly, Vertebral compression fracture, Flared metaphysis, Scoliosis, Central vertebral hyp... OMIM:602557
Fanconi Anemia, Complementation Group A
Anemia, Pancytopenia, Reticulocytopenia, Complete duplication of thumb phalanx, Abnormal heart mo... OMIM:227650
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
1P36 Deletion Syndrome
Annular pancreas, Clinodactyly of the 5th finger, Abnormal heart valve morphology, Scoliosis, Sho... ORPHA:1606
Acute Radiation Syndrome
Abnormal bleeding, Thrombocytopenia, Granulocytopenia, Lymphopenia ORPHA:454831
Temtamy Syndrome
Microphthalmia ORPHA:1777
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Intrauterine growth retardation, Microphthalmia, Rhizomelia, Short stature ORPHA:163966
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Combined Oxidative Phosphorylation Deficiency 3
Hepatomegaly, Concentric hypertrophic cardiomyopathy, Patent foramen ovale, Tremor, Elevated circ... OMIM:610505
Brucellosis
Chorea, Granuloma, Pericarditis, Leukopenia, Splenomegaly, Myocarditis, Failure to thrive, Weight... ORPHA:1304
3-Hydroxy-3-Methylglutaric Aciduria
Prolonged prothrombin time, Jaundice, Anemia, Hepatomegaly, Spastic hemiparesis, Hyperuricemia, S... ORPHA:20
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Elevated circulating creatine kinase concentration, Muscular dystrophy, Increased endomysial conn... OMIM:613154
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Hematochezia, S... OMIM:617718
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly ORPHA:664
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612926
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Prolonged prothrombin time, Hypertriglyceridemia, Gastrointestinal hemorrhage, Abnormal circulati... ORPHA:247598
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Reduced proportion of CD4-n... ORPHA:37042
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Q Fever
Purpura, Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Granuloma, ... ORPHA:781
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612924
Glycerol Kinase Deficiency
Hypertriglyceridemia, Muscular dystrophy, Hyperglycerolemia, Chronic pancreatitis, Small for gest... OMIM:307030
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Anemia, Failure to thrive, Hypercalcemia, Splenomegaly, Hypophosphatemi... OMIM:239200
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Double Outlet Right Ventricle
Hypocalcemia, Cyanosis, Short stature ORPHA:3426
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Growth delay, Acrocyanosis OMIM:614407
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Reduced circulating interferon gamma concentra... OMIM:301220
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Congenital Disorder Of Glycosylation, Type Iie
Perimembranous ventricular septal defect, Jaundice, Hepatomegaly, Elevated circulating creatine k... OMIM:608779
Hemophilia B
Prolonged prothrombin time, Hematemesis, Gastrointestinal hemorrhage, Melena, Petechiae, Joint he... OMIM:306900
Preeclampsia
Thrombocytopenia, Abnormality of the hepatic vasculature ORPHA:275555
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618652
Leukocyte Adhesion Deficiency
Perianal abscess, Abnormal bleeding, Acute myeloid leukemia, Recurrent tonsillitis, Impaired plat... ORPHA:2968
Vexas Syndrome
Thrombocytopenia, Megakaryocyte dysplasia, Macrocytic anemia OMIM:301054
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Oligodacty... ORPHA:93323
Carnitine-Acylcarnitine Translocase Deficiency
Decreased circulating carnitine concentration, Elevated creatine kinase after exercise, Hyperammo... ORPHA:159
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Anemia, Leukocytosis ORPHA:90060
Spondylo-Ocular Syndrome
Short stature, Microphthalmia, Disproportionate short-trunk short stature, Aplasia/Hypoplasia of ... ORPHA:85194
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Intrauterine growth retardation, Microphthalmia, Encephalocele ORPHA:228390
Adult-Onset Dystonia-Parkinsonism
Hypomimic face, Bradykinesia, Spasticity, Parkinsonism with favorable response to dopaminergic me... ORPHA:199351
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Helsmoortel-Van Der Aa Syndrome
Irritability, Enlarged kidney, Recurrent urinary tract infections, Enuresis nocturna, Abnormal he... OMIM:615873
Asbestos Intoxication
Hypoxemia, Cyanosis, Oxygen desaturation on exertion ORPHA:2302
Ataxia-Telangiectasia
Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Hypoplasia of the thymus, T... OMIM:208900
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Oculomotor apraxia, Cachexia, Spontaneous, recurrent epistaxis, Spastic paraplegia, Splenomegaly,... ORPHA:2072
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Oculopalatocerebral Syndrome
Short stature, Microphthalmia OMIM:257910
Bile Acid Synthesis Defect, Congenital, 4
Prolonged prothrombin time, Intrahepatic cholestasis, Hepatomegaly, Giant cell hepatitis, Prolong... OMIM:214950
3-Methylglutaconic Aciduria Type 7
Respiratory failure, Infection associated neutropenia, Bone marrow hypocellularity, Neutropenia ORPHA:445038
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure OMIM:618233
Necrotizing Enterocolitis
Hyponatremia, Cyanosis, Thrombocytopenia ORPHA:391673
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide distal femoral metaphysis, Metaphyseal cupping, Micromelia, Severe platyspondyly, Cardiomega... OMIM:613320
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis, Abnormal circulating protein concentration ORPHA:747
Adams-Oliver Syndrome 5
Patent foramen ovale, Right atrial enlargement, Portal vein thrombosis, Pulmonic stenosis, Spleno... OMIM:616028
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, Decreased ... OMIM:102700
Microcephaly 20, Primary, Autosomal Recessive
Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia, Short stature OMIM:617914
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma OMIM:216820
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Hypochromic microcytic anemia, Head titubation, Thrombocytopenia, Vestibular areflexia, Spastic t... ORPHA:3240
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Hemolytic anemia, Neutropenia OMIM:301110
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure ORPHA:2759
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Normochromic anemia, Elevated circulating creatine kinase concentration, Hypertro... OMIM:618775
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Low plasma citrulline, Cyanosis OMIM:261680
Fibrodysplasia Ossificans Progressiva
Respiratory insufficiency, Respiratory failure OMIM:135100
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Lig4 Syndrome
Acute lymphoblastic leukemia, Thrombocytopenia, Pancytopenia OMIM:606593
Osteoporosis-Pseudoglioma Syndrome
Short stature, Microphthalmia ORPHA:2788
Hereditary Bullous Dystrophy, Macular Type
Short stature, Growth delay, Acrocyanosis ORPHA:1867
Celiac Disease, Susceptibility To, 1
Rickets, Prolonged prothrombin time, Iron deficiency anemia, Macrocytic anemia, Osteoporosis, Thr... OMIM:212750
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612925
Fanconi Anemia, Complementation Group F
Hypoplasia of the radius, Anemia, Bone marrow hypocellularity, Failure to thrive, Thrombocytopeni... OMIM:603467
Hurler Syndrome
Hepatomegaly, Abnormal vertebral morphology, Abnormal diaphysis morphology, Abnormality of the to... ORPHA:93473
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Granuloma, Splenomeg... OMIM:306400
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory failure OMIM:620166
Norrie Disease
Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of... OMIM:310600
Dystonia 2, Torsion, Autosomal Recessive
Torsion dystonia, Tremor, Blepharospasm, Torticollis OMIM:224500
Lujo Hemorrhagic Fever
Myocarditis, Purpura, Elevated circulating C-reactive protein concentration, Resting tremor, Fulm... ORPHA:319213
Primary Sclerosing Cholangitis
Prolonged prothrombin time, Cirrhosis, Jaundice, Abnormal biliary tract morphology, Pancreatitis,... ORPHA:171
Sandestig-Stefanova Syndrome
Respiratory failure OMIM:618804
Congenital Disorder Of Glycosylation, Type Ij
Hypertonia, Jaundice, Clinodactyly of the 5th finger, Tremor, Hypoproteinemia, Flexion contracture OMIM:608093
Listeriosis
Somatic sensory dysfunction, Myocarditis, Jaundice, Liver abscess, Splenic abscess, Abnormal cell... ORPHA:533
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Purpura, Reticulocytosis, Thrombocytopenia, Microangiopathic hemolytic anemia, Schistocytosis OMIM:235400
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory failure, Respiratory insufficiency due to muscle weakness, Anemia, Death in childhood OMIM:220110
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Leukocytosis, Right atri... OMIM:620233
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Death in childhood OMIM:619847
Isolated Biliary Atresia
Prolonged prothrombin time, Cirrhosis, Jaundice, Hepatomegaly, Periportal fibrosis, Cholestasis, ... ORPHA:30391
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma, Umbilical hernia OMIM:618914
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Normochromic anemia, Gait ataxia, Action tremor, Intention tremor, Thrombocytopenia, Myoclonus, P... OMIM:254900
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy... OMIM:619418
Poems Syndrome
Hepatomegaly, Lymphadenopathy, Increased circulating antibody level, Visceromegaly, Sclerosis of ... ORPHA:2905
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Timothy Syndrome
Hypocalcemia, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot, Patent ductus... OMIM:601005
Multiple System Atrophy 1, Susceptibility To
Bradykinesia, Babinski sign, Tremor, Rigidity, Ataxia, Skeletal muscle atrophy, Parkinsonism OMIM:146500
Familial Thrombocytosis
Abnormal bleeding, Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Thrombocyt... ORPHA:71493
Thrombotic Thrombocytopenic Purpura, Hereditary
Jaundice, Reticulocytosis, Prolonged neonatal jaundice, Thrombocytopenia, Microangiopathic hemoly... OMIM:274150
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Lower limb spasticity, Increased mean platelet volume, Thrombocytopenia, P... OMIM:620475
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Hepatomegaly, Anemia, Decreased circulating IgG level, Abnormal trabecular bone mo... OMIM:612301
Tetrasomy 5P
Postnatal growth retardation, Cyanosis ORPHA:3309
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb hypertonia, Fasciculations, Patent foramen ovale, Tremor, Exaggerated startle response, Limb... OMIM:620327
Hereditary Spherocytosis
Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Hypertonia, Truncal titubation, Clinodactyly of the 5th finger, Limb hypertonia, Tremor, Exaggera... OMIM:618056
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Renal artery aneurysm, Leukocytosis, Bone ma... OMIM:615688
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Ethylmalonic Encephalopathy
Petechiae, Acrocyanosis ORPHA:51188
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time, Jaundice OMIM:616483
Papillorenal Syndrome
Hematuria, Horseshoe kidney, Retinal detachment, Macular degeneration, Lens luxation, Vesicourete... OMIM:120330
Dravet Syndrome
Cyanotic episode ORPHA:33069
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Lysinuric Protein Intolerance
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperammonemia, Abnormal heart mor... ORPHA:470
Hereditary Motor And Sensory Neuropathy, Type Iic
Respiratory failure, Intercostal muscle weakness OMIM:606071
Bloom Syndrome
Decreased circulating total IgM, Acute myeloid leukemia, Decreased proportion of CD4-positive T c... ORPHA:125
Fanconi Anemia, Complementation Group D2
Annular pancreas, Anemia, Pancytopenia, Reticulocytopenia, Aplasia of the 1st metacarpal, Bone ma... OMIM:227646
Rodrigues Blindness
Short stature, Microphthalmia OMIM:268320
Gaucher Disease, Type Ii
Hypertonia, Hepatomegaly, Anemia, Oculomotor apraxia, Spasticity, Failure to thrive, Rigidity, Th... OMIM:230900
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory failure, Neonatal death, Brain abscess OMIM:616482
Riddle Syndrome
Decreased circulating total IgM, Neonatal asphyxia, Decreased circulating IgG level, Respiratory ... ORPHA:420741
Pierson Syndrome
Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Remnants of the hyaloid... OMIM:609049
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Cirrhosis, Hepatomegaly, Abnormal bleeding, Cholelithiasis, Acute promyelocytic leuke... ORPHA:77293
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Ascites, Portal hypertension, Spl... ORPHA:131
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Bicuspid aortic valve, Anemia, Patent ductus arteriosus, Pancytopenia, Ventricular hypertrophy, P... OMIM:620654
Familial Mediterranean Fever
Lymphadenopathy, Depression, Leukocytosis, Nephrotic syndrome, Pericarditis, Nephrocalcinosis, Sp... ORPHA:342
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Vitreous hemorrhage, Pancreatitis, Hammertoe, Limb hypertonia, Splenic cyst, Spasticity, Patent f... OMIM:620371
Atelis Syndrome 2
Anemia, Kyphosis, Supravalvar pulmonary stenosis, Pulmonic stenosis, Thrombocytopenia, Patent duc... OMIM:620185
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hepatomegaly, Increased circulating IgG level, Increased circulating... OMIM:617388
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Transient neutropenia, ... OMIM:607676
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Williams Syndrome
Abnormal circulating lipid concentration, Abnormal form of the vertebral bodies, Hyperlordosis, K... ORPHA:904
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Idiopathic Pulmonary Fibrosis
Orthodeoxia, Acrocyanosis ORPHA:2032
Trisomy 13
Intrauterine growth retardation, Microphthalmia, Aplasia/Hypoplasia of the iris, Anophthalmia ORPHA:3378
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Hypoplasia of the radius, Hypertonia, Clinodactyly of the 5th fi... OMIM:122470
Niemann-Pick Disease, Type C1
Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Spasticity, Cataplexy, Gait ataxia,... OMIM:257220
Microphthalmia, Syndromic 5
Short stature, Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610125
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Myositis, Leukocytosis, P... ORPHA:32960
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Paratracheal lymphadenopathy, Leukopenia, Lymphopenia, Thrombocytosis, Follicular hyperpl... OMIM:615934
Diamond-Blackfan Anemia 21
Genu valgum, Anemia, Erythroid hypoplasia, Sandal gap, Clinodactyly of the thumb, Obesity, Secund... OMIM:620072
Marburg Hemorrhagic Fever
Prolonged prothrombin time, Reticulocytosis, Hyperammonemia, Pericarditis, Leukopenia, Lymphopeni... ORPHA:99826
Cockayne Syndrome Type 1
Hepatomegaly, Anemia, Foot joint contracture, Lower limb spasticity, Scoliosis, Tremor, Increased... ORPHA:90321
Subaortic Stenosis-Short Stature Syndrome
Short stature, Microphthalmia ORPHA:3191
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Increased hepatic glycogen content, Elevated hepatic iron concentration, Copper accumulat... OMIM:614946
Ivic Syndrome
Hypoplasia of the radius, Triphalangeal thumb, Scoliosis, Leukocytosis, Synostosis of carpal bone... ORPHA:2307
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Refractory sideroblastic anemia, Anemia, Pancytopenia, Reticulocytopenia, Siderobla... OMIM:557000
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Cantú Syndrome
Abnormal metaphysis morphology, Platyspondyly, Short hallux, Finger syndactyly, Abnormal heart va... ORPHA:1517
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Mediastinal lymphadenopathy, Clubbing, Facial palsy, Splenomegaly OMIM:612387
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia, Hemolytic anemia ORPHA:1572
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Proximal placement of thumb, Abnormality of the lymphatic system, Scoliosis, Tapered finger, Tota... ORPHA:487796
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Thrombocytopenia OMIM:611126
Autoinflammatory Disease, Systemic, With Vasculitis
Purpura, Jaundice, Hepatomegaly, Anemia, Increased B cell count, Cholestasis, Increased T cell co... OMIM:620376
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Crimean-Congo Hemorrhagic Fever
Hematemesis, Spontaneous hematomas, Ascites, Leukopenia, Splenomegaly, Epistaxis, Diffuse alveola... ORPHA:99827
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Abnormal bleeding, Hypocalcemia, Elevated circulating creatine kinase concentration... ORPHA:466650
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Corneal scarring, Cataract, Buphthalmos, Macular atrophy, Iris coloboma OMIM:212550
Congenital Erythropoietic Porphyria
Osteopenia, Abnormal bleeding, Osteoporosis, Reticulocytosis, Poikilocytosis, Anisocytosis, Leuko... ORPHA:79277
Immunodeficiency 87 And Autoimmunity
Autoimmune hemolytic anemia, Hypertriglyceridemia, Hepatic steatosis, Jaundice, Hepatomegaly, Atr... OMIM:619573
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Osteopenia, B lymphocytopenia, Neutropenia in presence of anti-neutr... ORPHA:391487
Fanconi Anemia, Complementation Group B
Aplastic anemia, Abnormal vertebral morphology, Bilateral radial aplasia, Thrombocytopenia, Absen... OMIM:300514
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Acute leukemia, Rhabdomyosarcoma, Cachexia, Thrombocytopenia, Skelet... ORPHA:647
Laryngotracheoesophageal Cleft
Cyanosis ORPHA:2004
Rift Valley Fever
Hematemesis, Abnormal bleeding, Jaundice, Anemia, Melena, Increased circulating IgG level, Gingiv... ORPHA:319251
Familial Mediterranean Fever
Hepatomegaly, Leukocytosis, Nephrotic syndrome, Pericarditis, Neutrophilia, Splenomegaly, Renal a... OMIM:249100
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis OMIM:610910
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure OMIM:617895
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Hepatomegaly, Impaired pain sensation, Scoliosis, Decreased body weight, Kyphosis, Decreased hemo... OMIM:619005
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Lymphadenopathy ORPHA:411703
Jacobsen Syndrome
Annular pancreas, Clinodactyly of the 5th finger, Spasticity, Failure to thrive, Thrombocytopenia... OMIM:147791
Liver Failure, Infantile, Transient
Prolonged prothrombin time, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicu... OMIM:613070
Hydrolethalus
Microphthalmia, Anencephaly, Anophthalmia ORPHA:2189
Primary Sjögren Syndrome
Normocytic anemia, Purpura, Lymphadenopathy, Normochromic anemia, Chronic active hepatitis, Myosi... ORPHA:289390
Pearson Syndrome
Cardiomyopathy, Reticulocytosis, Bone marrow hypocellularity, Abnormal heart morphology, Ataxia, ... ORPHA:699
Autoimmune Hepatitis
Cirrhosis, Jaundice, Gastrointestinal hemorrhage, Increased circulating antibody level, Sclerosin... ORPHA:2137
Matthew-Wood Syndrome
Intrauterine growth retardation, Microphthalmia, Anophthalmia ORPHA:2470
Alport Syndrome 2, Autosomal Recessive
Hematuria, Corneal erosion, Renal insufficiency, Nephrotic syndrome, Nephritis, Proteinuria, Cata... OMIM:203780
Muscular Dystrophy, Duchenne Type
Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:310200
Congenital Disorder Of Glycosylation, Type Iiw
Prolonged prothrombin time, Hepatomegaly, Anemia, Osteoporosis, Bile duct proliferation, Bleeding... OMIM:619525
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Hepatomegaly, Transposition of the great arteries, Hypospadias, Cardiomyopathy, ... OMIM:312870
Papa Syndrome
Proteinuria, Lymphadenopathy ORPHA:69126
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hepatomegaly, Methylmalonic acidemia, Hyperhomocystinemia, Abnormality of extrapyramidal motor fu... OMIM:277400
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Primary Ciliary Dyskinesia
Respiratory failure, Neonatal respiratory distress, Polysplenia, Asplenia ORPHA:244
Osteogenesis Imperfecta
Abnormal femur morphology, Abnormal form of the vertebral bodies, Dislocated radial head, Femoral... ORPHA:666
Amyloidosis, Finnish Type
Optic neuropathy, Lattice corneal dystrophy, Nephrotic syndrome, Urolithiasis, Cataract, Stage 5 ... OMIM:105120
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy... ORPHA:288
Kallmann Syndrome-Heart Disease Syndrome
Delayed puberty, Cyanosis, Short stature, Growth delay ORPHA:2326
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Respiratory failure, Death in childhood OMIM:617186
Rere-Related Neurodevelopmental Syndrome
Intrauterine growth retardation, Microphthalmia, Postnatal growth retardation ORPHA:494344
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Chiari Malformation Type Ii
Cyanosis OMIM:207950
Lathosterolosis
Anisopoikilocytosis, Intrahepatic cholestasis, Hepatomegaly, Postaxial hand polydactyly, Failure ... ORPHA:46059
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Neonatal death, Cyanosis, Death in infancy OMIM:610921
Long-Olsen-Distelmaier Syndrome
Hyperammonemia, Failure to thrive, Secundum atrial septal defect, Cardiomegaly, Dilated cardiomyo... OMIM:620609
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating total IgM, Anemia, Accessory spleen, Portal hypertension, Decreased circula... OMIM:620005
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Leptospirosis
Hepatomegaly, Jaundice, Lymphadenopathy, Retinal hemorrhage, Pericarditis, Rhabdomyolysis, Thromb... ORPHA:509
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis ORPHA:444013
Proteus-Like Syndrome
Retinal detachment, Heterochromia iridis, Abnormal pupil morphology, Splenomegaly, Cataract, Limb... ORPHA:2969
16Q24.3 Microdeletion Syndrome
Proximal placement of thumb, Increased mean corpuscular volume, Scoliosis, Kyphosis, Thrombocytop... ORPHA:261250
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cholangitis, Periportal fibrosis, Ragged-red muscle fibers, Microvesicular hepatic steatosis, Spa... OMIM:124000
Fetal Alcohol Syndrome
Intrauterine growth retardation, Microphthalmia, Short stature ORPHA:1915
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Congenital diaphragmatic hernia, Large for gestational age, Spasticity, Tremor, Patent ductus art... OMIM:614080
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Jaundice, Methylmalonic acidemia, Hyperhomocystinemia, Megaloblastic anemia, Poor fine motor coor... ORPHA:79282
Joubert Syndrome 37
Short stature, Microphthalmia OMIM:619185
Proximal Spinal Muscular Atrophy
Respiratory failure, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakn... ORPHA:70
Frontofacionasal Dysplasia
Short stature, Microphthalmia, Encephalocele ORPHA:1791
Reynolds Syndrome
Calcinosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Hyperbilirubinemia, Cholestasis,... OMIM:613471
Graft Versus Host Disease
Lymphadenopathy, Irritability, Hepatosplenomegaly, Hemophagocytosis ORPHA:39812
Kaposi Sarcoma
Generalized lymphadenopathy, Abnormality of the spleen ORPHA:33276
Multiple Benign Circumferential Skin Creases On Limbs
Short stature, Microphthalmia, Umbilical hernia ORPHA:2505
Serotonin Syndrome
Hypertonia, Tremor, Clonus, Rhabdomyolysis, Rigidity, Myoclonus ORPHA:43116
Selective Igm Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... ORPHA:331235
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Trichothiodystrophy 3, Photosensitive
Intrauterine growth retardation, Microphthalmia, Short stature OMIM:616395
Alternating Hemiplegia Of Childhood
Paroxysmal dyskinesia, Oculomotor apraxia, Facial hypotonia, Chorea, Tremor, Cardiomyopathy, Fail... ORPHA:2131
Dyskeratosis Congenita
Cirrhosis, Neoplasm of the pancreas, Hepatomegaly, Anemia, Osteoporosis, Bone marrow hypocellular... ORPHA:1775
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy, Tubulointerstitial fibrosis, T lymphocytopenia, Lymphopenia, Autoimmune thromboc... OMIM:607944
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypernatremia, Hyperglycinemia, Thrombocytopenia, Cyanosis OMIM:620423
Solitary Median Maxillary Central Incisor
Short stature, Microphthalmia, Anophthalmia OMIM:147250
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia, Short stature OMIM:609053
Klatskin Tumor
Hepatomegaly, Lymphadenopathy ORPHA:99978
Multiple Myeloma
Acute kidney injury, Anemia, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Spl... ORPHA:29073
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory failure, Cardiorespiratory arrest ORPHA:26791
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis ORPHA:3304
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Singleton-Merten Syndrome 1
Hypoplastic distal radial epiphyses, Genu valgum, Expanded metatarsals with widened medullary cav... OMIM:182250
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Microphthalmia, Optic nerve hypoplasia ORPHA:370959
Catastrophic Antiphospholipid Syndrome
Myocarditis, Chorea, Abnormal heart valve morphology, Thrombocytopenia, Coombs-positive hemolytic... ORPHA:464343
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis ORPHA:439
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hepatomegaly, Myoglobinuria, Polycystic... ORPHA:228308
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Failure to thri... ORPHA:1329
Coronary Arterial Fistula
Bicuspid aortic valve, Atrial septal defect, Bacterial endocarditis, Patent foramen ovale, Aortic... ORPHA:2041
Monosomy 18P
Short stature, Microphthalmia ORPHA:1598
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Baraitser-Winter Syndrome 1
Short stature, Microphthalmia, Postnatal growth retardation OMIM:243310
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Prolonged prothrombin time, Scoliosis, Elevated circulating creatine kinase concentration, Clonus... OMIM:619055
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Death in childhood, Hypokalemia, Death in infancy, Hyponatremia, Cyanosis OMIM:618426
Hemorrhagic Fever-Renal Syndrome
Anemia, Increased circulating interleukin 6 concentration, Leukocytosis, Thrombocytopenia, Respir... ORPHA:340
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Splenomegaly, Hepatomegaly OMIM:235555
Atypical Progressive Supranuclear Palsy Syndrome
Kyphoscoliosis, Bradykinesia, Oculomotor apraxia, Tremor by anatomical site, Extrapyramidal muscu... ORPHA:99750
Mucolipidosis Type Ii
Abnormal aortic valve morphology, Patent foramen ovale, Diastasis recti, Cardiomyopathy, Kyphosis... ORPHA:576
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Recurrent urinary tract infections, Decreased proportion of naive T cells, T lym... ORPHA:83471
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bradykinesia, Hemiballismus, Hypertonia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidit... OMIM:618877
Garg-Mishra Progeroid Syndrome
Short stature, Microphthalmia, Postnatal growth retardation OMIM:620601
Leprechaunism
Enlarged kidney, Hepatomegaly, Long penis, Hypercalciuria, Hypertrophic cardiomyopathy, Nephrocal... ORPHA:508
Liver Disease, Severe Congenital
Left atrial enlargement, Lymphocytosis, Hypoproteinemia, Ascites, Biliary hyperplasia, Hyperammon... OMIM:619991
Exudative Vitreoretinopathy 6
Patchy atrophy of the retinal pigment epithelium, Retinal detachment, Tractional retinal detachme... OMIM:616468
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory failure ORPHA:2707
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... ORPHA:232
Parkinson Disease 20, Early-Onset
Bradykinesia, Tremor, Leg muscle stiffness, Involuntary movements, Rigidity, Dystonia, Parkinsoni... OMIM:615530
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged prothrombin time, Decreased circulating carnitine concentration, Abnormal circulating a... ORPHA:71212
Hardikar Syndrome
Hematemesis, Intrahepatic bile duct dilatation, Cholestasis, Prolonged neonatal jaundice, Splenom... OMIM:301068
Microform Holoprosencephaly
Scoliosis, Tetralogy of Fallot, EMG: myopathic abnormalities ORPHA:280200
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Intrauterine growth retardation, Microphthalmia, Postnatal growth retardation ORPHA:2728
Alexander Disease
Chorea, Scoliosis, Hyperlordosis, Facial palsy, Tetraplegia, Kyphosis, Tremor, Spasticity, Clonus... ORPHA:58
Lymphangioleiomyomatosis
Renal neoplasm, Hematuria, Lymphadenopathy, Chylopericardium, Abnormality of the lymphatic system... ORPHA:538
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Growth delay, Microphthalmia, Anophthalmia ORPHA:77298
Hennekam-Beemer Syndrome
Respiratory insufficiency, Mastocytosis ORPHA:2135
Cholestasis, Progressive Familial Intrahepatic, 5
Prolonged prothrombin time, Cirrhosis, Jaundice, Ascites OMIM:617049
Fanconi Anemia, Complementation Group S
Short stature, Microphthalmia OMIM:617883
Autosomal Dominant Spastic Paraplegia Type 9A
Spastic gait, Babinski sign, Spastic dysarthria, Abnormality of pain sensation, Impaired vibratio... ORPHA:447753
Roberts Syndrome
Hypoplasia of the radius, Radial deviation of finger, Mesomelic arm shortening, Proximal placemen... ORPHA:3103
Scedosporiosis
Respiratory failure ORPHA:449280
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Nephrocalcinosis, Right atrial enlargement OMIM:614473
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Lethal Acantholytic Erosive Disorder
Clinodactyly of the 5th finger, 4-5 finger syndactyly, Cardiomyopathy, Camptodactyly of toe, 2-3 ... ORPHA:158687
Familial Tumoral Calcinosis
Calcification of muscles, Hepatomegaly, Splenomegaly ORPHA:53715
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Short stature, Bilateral microphthalmos, Umbilical hernia ORPHA:369891
Gracile Bone Dysplasia
Short stature, Microphthalmia, Aniridia OMIM:602361
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Calcium nephrolithiasis, Mediastinal lymphadenopathy, Chronic noninfectio... ORPHA:97289
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Respiratory arrest, Neonatal death, Respiratory failure, Neutropenia OMIM:617248
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Cogwheel rigidity, Gait... OMIM:600116
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased body weight, Abnormality... ORPHA:2298
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Rocker bottom foot, Atrial septal defect, Anemia, Hypocalcemia, Hyperextensibility of the finger ... ORPHA:163979
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Tremor, Failure to thrive, Ataxia, Splenomegaly, Decreased serum zinc OMIM:201100
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Developmental glaucoma, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypop... OMIM:610199
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration, Cyanosis, Death in infancy OMIM:617478
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Joubert Syndrome 14
Growth delay, Microphthalmia, Encephalocele, Meningocele OMIM:614424
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... OMIM:601214
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Fanconi Anemia, Complementation Group R
Growth delay, Microphthalmia OMIM:617244
Simpson-Golabi-Behmel Syndrome
Congenital diaphragmatic hernia, Cardiomyopathy, Broad thumb, Splenomegaly, Scoliosis, Postaxial ... ORPHA:373
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis OMIM:614204
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Iron deficiency anemia, Band keratopathy, Keratoconjunctivitis, Asplenia, Chronic hepa... OMIM:269200
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Dicarboxylic aciduria, Renal tubular acidosis, Cardiomegaly, Ketonuria OMIM:255120
Warburg Micro Syndrome 4
Short stature, Microphthalmia, Severe postnatal growth retardation OMIM:615663
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Siderobla... OMIM:616084
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Rhabdomyosarcoma, Sandal gap, B lymphocytopenia, 2-3 toe syndactyly,... OMIM:251260
Proteus Syndrome
Enlarged kidney, Long penis, Neoplasm of the thymus, Enlarged polycystic ovaries, Renal cyst, Lym... ORPHA:744
Microphthalmia With Limb Anomalies
Growth delay, Microphthalmia, Postnatal growth retardation, Anophthalmia OMIM:206920
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Yellow Fever
Prolonged prothrombin time, Hematemesis, Abnormal bleeding, Jaundice, Acute pancreatitis, Leukocy... ORPHA:99829
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Microphthalmia OMIM:301108
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:496641
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure ORPHA:280210
Waardenburg Syndrome Type 3
Acrocyanosis ORPHA:896
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation OMIM:241410
Marden-Walker Syndrome
Intrauterine growth retardation, Microphthalmia, Postnatal growth retardation OMIM:248700
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Bohring-Opitz Syndrome
Annular pancreas, Severe failure to thrive, Cholelithiasis, Facial hypotonia, Metacarpophalangeal... ORPHA:97297
Infantile Krabbe Disease
Respiratory failure ORPHA:206436
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Acute Liver Failure
Prolonged prothrombin time, Gastrointestinal hemorrhage, Jaundice, Abnormal bleeding, Incoordinat... ORPHA:90062
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular s... OMIM:614643
Hennekam Syndrome
Lymphadenopathy, Ectopic kidney, Pericardial effusion, Lymphangioma, Splenomegaly, Pulmonary lymp... ORPHA:2136
Mercury Poisoning
Respiratory failure ORPHA:330021
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system OMIM:165550
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Combined Oxidative Phosphorylation Deficiency 37
Respiratory insufficiency, Respiratory failure OMIM:618329
Micro Syndrome
Delayed puberty, Microphthalmia, Intrauterine growth retardation, Short stature ORPHA:2510
Choanal Atresia
Cyanosis ORPHA:137914
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1352
Fanconi Anemia
Abnormal femur morphology, Leukopenia, Abnormal cardiac septum morphology, Hypoplasia of the ulna... ORPHA:84
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis OMIM:619580
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Arachnodactyly, Splenomegaly, Tricuspid atresia, Hypocalcemia, Abnor... ORPHA:567
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Dermatomyositis
Myocarditis, Inflammatory myopathy, Myositis, Abnormal eosinophil morphology, EMG: myopathic abno... ORPHA:221
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Short stature, Microphthalmia OMIM:617306
Hereditary Orotic Aciduria
Anemia, Splenomegaly, Impaired T cell function ORPHA:30
Temtamy Syndrome
Microphthalmia OMIM:218340
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Aorta Coarctation
Bicuspid aortic valve, Perimembranous ventricular septal defect, Abnormal left ventricular outflo... ORPHA:1457
Melkersson-Rosenthal Syndrome
Oligosacchariduria, Lymphadenopathy ORPHA:2483
Dubowitz Syndrome
Anemia, Clinodactyly of the 5th finger, Spina bifida occulta, Sandal gap, Aplasia/Hypoplasia of t... ORPHA:235
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Optic atrophy, Renal artery stenosis, Renal hypoplasia, Nephrocalcinosis, Hydronephrosis, Splenom... OMIM:617913
Amyotrophic Lateral Sclerosis
Respiratory failure ORPHA:803
Systemic Lupus Erythematosus
Hematuria, Lymphadenopathy, Pyuria, Depression, Thrombocytopenia, Leukopenia, Proteinuria, Hemoly... ORPHA:536
Scorpion Envenomation
Myocarditis, Purpura, Hyperkinetic movements, Increased circulating NT-proBNP concentration, Hypo... ORPHA:466677
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Growth delay, Acroc... OMIM:223900
Deeah Syndrome
Hepatomegaly, Impaired pain sensation, Scoliosis, Decreased body weight, Decreased hemoglobin con... OMIM:619004
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia OMIM:618494
Nasopalpebral Lipoma-Coloboma Syndrome
Severe postnatal growth retardation, Microphthalmia, Bilateral microphthalmos ORPHA:2399
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Syndromic Diarrhea
Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Patent ductus ar... ORPHA:84064
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Cerebrooculofacioskeletal Syndrome 4
Intrauterine growth retardation, Bilateral microphthalmos, Short stature OMIM:610758
Dpagt1-Cdg
Hypertonia, Hepatomegaly, Anemia, Scoliosis, Tremor, Camptodactyly, Arachnodactyly, Failure to th... ORPHA:86309
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Classical Ehlers-Danlos Syndrome
Osteopenia, Prolonged bleeding time, Ecchymosis, Bruising susceptibility ORPHA:287
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure OMIM:617301
Knobloch Syndrome
Retinal detachment, Macular degeneration, Vesicoureteral reflux, Ectopia lentis, Lymphangioma, Bi... ORPHA:1571
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Absence Of The Pulmonary Artery
Abnormal hemidiaphragm morphology, Patent foramen ovale, Truncus arteriosus, Abnormal heart morph... ORPHA:980
Coccidioidomycosis
Abnormality of the kidney, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormality of the bladd... ORPHA:228123
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion ORPHA:85436
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia, Cyanosis ORPHA:31826
Moebius Syndrome
Microphthalmia OMIM:157900
Poliomyelitis
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:2912
Cataract 5, Multiple Types
Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract OMIM:116800
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Ca... ORPHA:75565
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Holocarboxylase Synthetase Deficiency
Thrombocytopenia OMIM:253270
Osteopetrosis With Renal Tubular Acidosis
Osteopetrosis, Hepatomegaly, Anemia, Pancytopenia, Bone marrow hypocellularity, Elliptocytosis, E... ORPHA:2785
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Pancreatitis, Leukocytosis, Reticulocytosis, Thrombocytopenia, Peritonitis, Microangiopathic hemo... ORPHA:90038
Heart And Brain Malformation Syndrome
Growth delay, Microphthalmia OMIM:616920
Noonan Syndrome 9
Prolonged prothrombin time OMIM:616559
Behçet Disease
Gastrointestinal hemorrhage, Pancreatitis, Lymphadenopathy, Myositis, Pericarditis, Hemiparesis, ... ORPHA:117
Aniridia 1
Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Hypoplasia of the ... OMIM:106210
Malt Lymphoma
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:52417
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Retinal detachment, Microcornea, Reti... OMIM:612109
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Pulmonary Arteriovenous Malformation
Hypoxemia, Cyanosis, Telangiectasia ORPHA:2038
Monosomy 13Q34
Prolonged prothrombin time, Postaxial hand polydactyly, Pulmonic stenosis, Common atrium, Obesity... ORPHA:96168
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Ventricular septal hypertrophy, Generalized muscul... OMIM:269700
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Pancreatitis, Anemia, Thrombocytopenia, Abnormal myocardium morpholo... ORPHA:537
Warburg Micro Syndrome 3
Postnatal growth retardation, Microphthalmia OMIM:614222
Hyperferritinemia With Or Without Cataract
Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract OMIM:600886
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Anemia, Pancreatitis, Thrombocytopenia, Abnormal myocardium morpholo... ORPHA:36426
Frontorhiny
Cranium bifidum occultum, Microphthalmia, Basal encephalocele, Encephalocele ORPHA:391474
Ectodermal Dysplasia-Blindness Syndrome
Short stature, Microphthalmia ORPHA:1806
Vacterl With Hydrocephalus
Intrauterine growth retardation, Microphthalmia, Anophthalmia, Spina bifida ORPHA:3412
Parenteral Nutrition-Associated Cholestasis
Splenomegaly, Abnormality of cytokine secretion ORPHA:567983
Kawasaki Disease
Myocarditis, Irritability, Abnormal heart valve morphology, Leukocytosis, Double outlet right ven... ORPHA:2331
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology ORPHA:100080
Frontonasal Dysplasia 2
Intrauterine growth retardation, Microphthalmia, Encephalocele OMIM:613451
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Igg4-Related Dacryoadenitis And Sialadenitis
Lymphadenopathy, Myositis, Thrombocytopenia, Weight loss, Abnormality of the extraocular muscles,... ORPHA:79078
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Cyanosis ORPHA:199241
Criss-Cross Heart
Cyanosis ORPHA:1461
Ritscher-Schinzel Syndrome 3
Postnatal growth retardation, Microphthalmia OMIM:619135
Familial Pancreatic Carcinoma
Peritoneal abscess, Hepatosplenomegaly, Lymphadenopathy ORPHA:1333
Trichothiodystrophy 4, Nonphotosensitive
Growth delay, Microphthalmia OMIM:234050
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Brain-Lung-Thyroid Syndrome
Respiratory failure, Neonatal respiratory distress ORPHA:209905
Cardiogenic Shock
Hypoxemia, Elevated circulating creatinine concentration, Cyanosis ORPHA:97292
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Sarcoidosis
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Hypercalciuria, Increased ... ORPHA:797
Kapur-Toriello Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:244300
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Spasticity, Ataxia, Splenomegaly, Abnormal pyramidal sign, Arthrogryposis multiplex... ORPHA:163746
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Ileal Neuroendocrine Tumor
Lymphadenopathy, Iron deficiency anemia, Tricuspid stenosis, Pulmonic stenosis, Hydronephrosis ORPHA:100078
X-Linked Dominant Chondrodysplasia Punctata
Short stature, Microphthalmia, Severe postnatal growth retardation ORPHA:35173
Microphthalmia/Coloboma 9
Microphthalmia OMIM:615145
Arterial Tortuosity Syndrome
Respiratory failure, Cardiorespiratory arrest ORPHA:3342
Jacobsen Syndrome
Annular pancreas, Abnormal form of the vertebral bodies, Finger syndactyly, Scoliosis, Toe clinod... ORPHA:2308
Familial Dysautonomia
Growth delay, Hyponatremia, Acrocyanosis ORPHA:1764
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Generalized muscular appearance from birth, Acute ... OMIM:608594
Chromosome 1Q41-Q42 Deletion Syndrome
Short stature, Microphthalmia OMIM:612530
Chromosome 13Q33-Q34 Deletion Syndrome
Short stature, Microphthalmia, Anencephaly, Encephalocele OMIM:619148
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Patent ductus arteriosus, Cardiomegaly, Ventricular septal defect, Macroglossia ORPHA:96191
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Short stature, Microphthalmia OMIM:618571
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Respiratory failure OMIM:610913
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos, Hydranencephaly, Neonatal short-trunk short stature, Mesomelic/rhizomel... ORPHA:2839
Eosinophilic Granulomatosis With Polyangiitis
Urticaria, Purpura, Cutis marmorata, Acrocyanosis ORPHA:183
Carney Triad
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:139411
Microcephaly-Micromelia Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:251230
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
Truncus Arteriosus
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla... ORPHA:3384
Dyskeratosis Congenita, X-Linked
Cirrhosis, Anemia, Acute myeloid leukemia, Pancytopenia, Osteoporosis, Bone marrow hypocellularit... OMIM:305000
Warburg Micro Syndrome 2
Postnatal growth retardation, Microphthalmia OMIM:614225
Meckel Syndrome 14
Cyanosis OMIM:619879
Igg4-Related Submandibular Gland Disease
Eosinophilia, Renal insufficiency, Lymphadenopathy, Abnormality of the kidney ORPHA:449432
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Prolonged prothrombin time, Episodic ataxia, Hyperammonemia, Episodic ammonia intoxication, Failu... OMIM:311250
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Cohen Syndrome
Delayed puberty, Microphthalmia, Intrauterine growth retardation, Short stature ORPHA:193
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology ORPHA:100082
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Tarp Syndrome
Intrauterine growth retardation, Cyanosis ORPHA:2886
Neuroendocrine Tumor Of Stomach
Chronic noninfectious lymphadenopathy, Hepatomegaly, Iron deficiency anemia, Abnormal pulmonary v... ORPHA:100075
Mosaic Trisomy 9
Intrauterine growth retardation, Microphthalmia, Spina bifida ORPHA:99776
Pulmonary Alveolar Microlithiasis
Increased circulating surfactant protein level, Hypoxemia, Cyanosis, Oxygen desaturation on exertion ORPHA:60025
Galloway-Mowat Syndrome 3
Intrauterine growth retardation, Microphthalmia, Short stature OMIM:617729
Hepatoerythropoietic Porphyria
Osteopenia, Abnormal bleeding, Osteoporosis, Splenomegaly, Osteolysis, Erythroid hyperplasia, Hem... ORPHA:95159
Postinfectious Vasculitis
Palpable purpura, Increased circulating antibody level, Elevated circulating C-reactive protein c... ORPHA:48435
Martsolf Syndrome 1
Short stature, Microphthalmia OMIM:212720
Malignant Atrophic Papulosis
Respiratory failure ORPHA:679
Alport Syndrome 1, X-Linked
Thrombocytopenia OMIM:301050
Trisomy 18
Microphthalmia, Anencephaly, Spina bifida, Short stature, Growth delay, Intrauterine growth retar... ORPHA:3380
Bronchial Neuroendocrine Tumor
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology ORPHA:97287
Oculocerebrorenal Syndrome Of Lowe
Abnormal metaphysis morphology, Genu valgum, Anemia, Hypokalemia, Scoliosis, Kyphosis, Clonus, Hy... ORPHA:534
Geleophysic Dysplasia 3
Respiratory failure OMIM:617809
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Xeroderma Pigmentosum, Complementation Group B
Short stature, Microphthalmia OMIM:610651
Radio-Renal Syndrome
Respiratory failure ORPHA:3015
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Scoliosis, Arachnodactyly, Subarachnoid hemorrhage, Patent ductus arterios... ORPHA:91387
3Q29 Microduplication Syndrome
Microphthalmia, Aniridia ORPHA:251038
Cat Eye Syndrome
Short stature, Microphthalmia, Umbilical hernia OMIM:115470
Chondrodysplasia Punctata 2, X-Linked Dominant
Postnatal growth retardation, Microphthalmia, Rhizomelia OMIM:302960
Paroxysmal Nocturnal Hemoglobinuria
Jaundice, Anemia, Pancytopenia, Abnormal erythrocyte enzyme concentration or activity, Reticulocy... ORPHA:447
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Oculodentodigital Dysplasia, Autosomal Recessive
Short stature, Microphthalmia OMIM:257850
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatosplenomegaly, Anemia ORPHA:85408
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Rhizomelia, Anophthalmia OMIM:615877
Microphthalmia, Syndromic 3
Postnatal growth retardation, Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Short stature... OMIM:206900
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia OMIM:616449
Galloway-Mowat Syndrome 1
Intrauterine growth retardation, Microphthalmia, Short stature, Hypoplasia of the iris OMIM:251300
Nance-Horan Syndrome
Microphthalmia OMIM:302350
1Q21.1 Microdeletion Syndrome
Intrauterine growth retardation, Microphthalmia, Short stature ORPHA:250989
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia ORPHA:3301
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia, Encephalocele OMIM:253800
Digeorge Syndrome
Anemia, Cholelithiasis, Intervertebral disk degeneration, Hypocalcemia, Scoliosis, Truncus arteri... OMIM:188400
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa... OMIM:615947
Pancreatoblastoma
Abnormal lymph node morphology ORPHA:677
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Respiratory failure, Death in infancy OMIM:300868
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Myocarditis, Pancreatitis, Hypocalcemia, Leukocytosis, Hyponatremia, Hemiparesis, T... ORPHA:544482
Curry-Jones Syndrome
Microphthalmia, Occipital meningocele, Lipomyelomeningocele OMIM:601707
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Microphthalmia, Lenz Type
Short stature, Microphthalmia ORPHA:568
Joubert Syndrome 2
Microphthalmia, Encephalocele OMIM:608091
Trichothiodystrophy 1, Photosensitive
Short stature, Microphthalmia OMIM:601675
Encephalocraniocutaneous Lipomatosis
Microphthalmia, Hypoplasia of the iris OMIM:613001
Malakoplakia
Hematuria, Dysuria, Urinary hesitancy, Urinary urgency, Proteinuria, Follicular hyperplasia, Urin... ORPHA:556
Rajab Interstitial Lung Disease With Brain Calcifications 1
Respiratory insufficiency, Respiratory failure, Anemia, Pancytopenia OMIM:613658
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla... ORPHA:1677
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy, Renal artery stenosis OMIM:208000
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Mediastinal lymphadenopathy, Increased circulating antibody level, Pancytopenia, Bo... OMIM:181000
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Partial atrioventricular canal defect, Secundum atrial septal defect, Card... OMIM:620066
Noonan Syndrome 1
Kyphoscoliosis, Juvenile myelomonocytic leukemia, Radial deviation of finger, Abnormal bleeding, ... OMIM:163950
Focal Dermal Hypoplasia
Microphthalmia, Hypoplasia of the iris, Spina bifida, Umbilical hernia ORPHA:2092
Pseudotrisomy 13 Syndrome
Microphthalmia, Encephalocele OMIM:264480
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Delayed puberty, Hyperlipidemia, Short stature, Hyponatremia, Cyanosis ORPHA:293987
Cousin Syndrome
Disproportionate short stature, Microphthalmia, Rhizomelia, Hydranencephaly OMIM:260660
Esophageal Atresia
Growth delay, Cyanosis ORPHA:1199
Chromosome 8Q21.11 Deletion Syndrome
Growth delay, Microphthalmia OMIM:614230
Fanconi Anemia, Complementation Group N
Postnatal growth retardation, Microphthalmia OMIM:610832
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal lymph node morphology, Dementia, Decreased eosinophil count, Memory impairment, Depressi... ORPHA:99889
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Oculomotor apraxia, Transient hyperphenylalaninemia, Spasticity, Tremor, Hyper... OMIM:612716
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Pitt-Hopkins Syndrome
Growth delay, Postnatal growth retardation, Acrocyanosis ORPHA:2896
Incontinentia Pigmenti
Short stature, Microphthalmia, Spina bifida occulta, Umbilical hernia ORPHA:464
Fraser Syndrome 2
Respiratory failure, Hypoplasia of the thymus OMIM:617666
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Microphthalmia, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos OMIM:236670
Dubowitz Syndrome
Postnatal growth retardation, Microphthalmia, Hypoplasia of the iris, Short stature, Intrauterine... OMIM:223370
Hyperlipoproteinemia, Type I
Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly OMIM:238600
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short stature, Microphthalmia, Postnatal growth retardation, Rhizomelia OMIM:608940
Duane-Radial Ray Syndrome
Microphthalmia, Optic disc hypoplasia, Spina bifida occulta OMIM:607323
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:364577
Ectodermal Dysplasia And Immunodeficiency 2
Defective production of NFKB1-dependent cytokines, Splenomegaly OMIM:612132
Atrial Septal Defect, Ostium Primum Type
Cyanosis ORPHA:99106
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Microphthalmia, Syndromic 9
Bilateral microphthalmos, Anophthalmia, Short stature, Severe short stature, Intrauterine growth ... OMIM:601186
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Rhizomelia, Microphthalmia, Severe short stature ORPHA:85167
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:79138
Myasthenia Gravis
Acrocyanosis ORPHA:589
Myhre Syndrome
Respiratory insufficiency, Respiratory failure OMIM:139210
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Cutis marmorata, Acrocyanosis OMIM:259900
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis OMIM:617239
Monosomy 9Q22.3
Microphthalmia, Umbilical hernia ORPHA:77301
Hallermann-Streiff Syndrome
Microphthalmia, Spina bifida, Proportionate short stature OMIM:234100
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Nail bed telangiectasia, Lip telangiectasia, Miscarriage, Nasal mucosa tel... OMIM:187300
Aspartylglucosaminuria
Beaking of vertebral bodies, Hepatomegaly, Abnormal vertebral morphology, Anterior beaking of lum... ORPHA:93
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal pulmonary valve morphology ORPHA:667
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia, Encephalocele, Umbilical hernia ORPHA:2166
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Short stature, Unilateral microphthalmos OMIM:618874
Fanconi Anemia, Complementation Group L
Intrauterine growth retardation, Microphthalmia, Growth delay OMIM:614083
Norrie Disease
Optic atrophy, Aplasia/Hypoplasia of the lens, Retinal detachment, Corneal opacity, Remnants of t... ORPHA:649
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Respiratory failure, Respiratory insufficienc... ORPHA:273
Joubert Syndrome 21
Respiratory failure, Splenomegaly OMIM:615636
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia, Rhizomelia, Encephalocele OMIM:616300
Congenital Tracheomalacia
Partial anomalous pulmonary venous return, Failure to thrive, Abnormal heart morphology, Tetralog... ORPHA:95430
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Pallister-Hall Syndrome
Intrauterine growth retardation, Microphthalmia, Short stature, Growth delay OMIM:146510
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Yunis-Varon Syndrome
Rocker bottom foot, Abnormal finger morphology, Cardiomyopathy, Aplasia of the 1st metacarpal, Sl... ORPHA:3472
Histiocytoid Cardiomyopathy
Cyanosis ORPHA:137675
Momo Syndrome
Short stature, Bilateral microphthalmos ORPHA:2563
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Respiratory failure, Decreased circulating IgG level, Secretory IgA deficiency ORPHA:500150
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
2Q31.1 Microdeletion Syndrome
Short stature, Microphthalmia ORPHA:251014
Telangiectasia, Hereditary Hemorrhagic, Type 2
Tongue telangiectasia, Oral cavity telangiectasia, Nail bed telangiectasia, Lip telangiectasia, G... OMIM:600376
Holoprosencephaly
Microphthalmia, Encephalocele, Anophthalmia, Branchial anomaly, Spinal dysraphism ORPHA:2162
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Mosaic Variegated Aneuploidy Syndrome
Intrauterine growth retardation, Microphthalmia, Short stature, Growth delay ORPHA:1052
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Respiratory failure, Miscarriage, Hepatosplenomegaly ORPHA:96334
Atrial Septal Defect, Coronary Sinus Type
Cyanosis ORPHA:99104
Mosaic Trisomy 1
Microphthalmia ORPHA:1692
Phace Association
Optic nerve hypoplasia, Microphthalmia OMIM:606519
Ear-Patella-Short Stature Syndrome
Respiratory failure ORPHA:2554
Linear Nevus Sebaceus Syndrome
Growth delay, Microphthalmia ORPHA:2612
Blau Syndrome
Anemia, Lymphadenopathy, Pericarditis, Clear cell renal cell carcinoma, Splenomegaly, Stage 5 chr... ORPHA:90340
Nocardiosis
Brain abscess, Respiratory failure, Cutaneous abscess, Liver abscess ORPHA:31204
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Acrofrontofacionasal Dysostosis 1
Short stature, Microphthalmia OMIM:201180
Generalized Arterial Calcification Of Infancy
Hypophosphatemic rickets, Fused cervical vertebrae, Abnormal calcification of the carpal bones, V... ORPHA:51608
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia ORPHA:464738
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Primary Hyperoxaluria
Hyperoxaluria, Cutis marmorata, Acrocyanosis ORPHA:416
Teebi-Shaltout Syndrome
Short stature, Microphthalmia OMIM:272950
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Lip telangiectasia, Nasal mucosa telangiectasia, Conjunctival telangiectas... OMIM:610655
Autosomal Dominant Kenny-Caffey Syndrome
Postnatal growth retardation, Bilateral microphthalmos, Short stature, Growth delay, Intrauterine... ORPHA:93325
Interatrial Communication
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... ORPHA:1478
Monosomy 13Q14
Intrauterine growth retardation, Microphthalmia, Short stature ORPHA:1587
Incontinentia Pigmenti
Short stature, Microphthalmia, Hypoplasia of the fovea OMIM:308300
Basal Cell Nevus Syndrome 1
Microphthalmia, Spina bifida OMIM:109400
Fryns Syndrome
Microphthalmia ORPHA:2059
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Severe short stature OMIM:127000
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Short stature, Optic nerve hypoplasia, Microphthalmia, Spina bifida ORPHA:508498
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory failure, Anemia ORPHA:79404
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Cockayne Syndrome B
Postnatal growth retardation, Microphthalmia, Hypoplasia of the iris, Severe short stature, Intra... OMIM:133540
Premature Aging Syndrome, Penttinen Type
Microphthalmia OMIM:601812
Isolated Arrhinia
Microphthalmia ORPHA:1134
Full Nf2-Related Schwannomatosis
Cortical cataract, Posterior subcapsular cataract, Remnants of the hyaloid vascular system ORPHA:637
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Atrial Septal Defect, Ostium Secundum Type
Cyanosis ORPHA:99103
Microphthalmia With Linear Skin Defects Syndrome
Respiratory failure ORPHA:2556
Trichothiodystrophy
Intrauterine growth retardation, Bilateral microphthalmos, Umbilical hernia ORPHA:33364
Meckel Syndrome
Microphthalmia, Anencephaly, Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the iris ORPHA:564
Unilateral Polymicrogyria
Cyanosis ORPHA:268943
Neuroocular Syndrome
Microcornea, Stellate iris, Remnants of the hyaloid vascular system, Lens coloboma, Brushfield sp... OMIM:619539
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Acro-Renal-Ocular Syndrome
Postnatal growth retardation, Microphthalmia, Optic disc hypoplasia ORPHA:959
Costello Syndrome
Respiratory insufficiency, Respiratory failure OMIM:218040
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Microphthalmia, Anencephaly, Intrauterine growth retarda... OMIM:249000
Hutchinson-Gilford Progeria Syndrome
Generalized abnormality of skin, Premature skin wrinkling, Prominent superficial blood vessels, D... ORPHA:740
Chromosome 13Q14 Deletion Syndrome
Growth delay, Microphthalmia, Umbilical hernia OMIM:613884
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Intrauterine growth retardation, Microphthalmia, Short stature OMIM:616975
Igg4-Related Ophthalmic Disease
Eosinophilia, Lymphadenopathy, Abnormality of the kidney ORPHA:449563
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Eisenmenger Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Elevated circulating C-reactive pr... ORPHA:97214
Treacher-Collins Syndrome
Microphthalmia, Branchial fistula, Encephalocele ORPHA:861
Neu-Laxova Syndrome 1
Short umbilical cord, Microphthalmia, Small placenta, Hydranencephaly, Spina bifida, Intrauterine... OMIM:256520
Microgastria-Limb Reduction Defect Syndrome
Growth delay, Microphthalmia, Anophthalmia ORPHA:2538
Aicardi Syndrome
Postnatal growth retardation, Microphthalmia, Spina bifida OMIM:304050
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Microphthalmia, Syndromic 2
Hypospadias, Retinal detachment, Microcornea, Remnants of the hyaloid vascular system, Developmen... OMIM:300166
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Intrauterine growth retardation, Microphthalmia, Branchial cyst, Short stature OMIM:620186
African Trypanosomiasis
Myocarditis, Irritability, Urinary incontinence, Hepatomegaly, Lymphadenopathy, Pericarditis, Hep... ORPHA:3385
Charge Syndrome
Postnatal growth retardation, Delayed puberty, Microphthalmia, Anophthalmia, Short stature, Umbil... ORPHA:138
Hallermann-Streiff Syndrome
Microphthalmia, Proportionate short stature ORPHA:2108
Bartsocas-Papas Syndrome 1
Intrauterine growth retardation, Microphthalmia OMIM:263650
Tuberous Sclerosis Complex
Respiratory failure ORPHA:805
Rothmund-Thomson Syndrome, Type 2
Short stature, Microphthalmia OMIM:268400
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Holoprosencephaly 7
Bilateral microphthalmos, Microphthalmia, Occipital meningocele OMIM:610828
Otopalatodigital Syndrome, Type Ii
Respiratory insufficiency, Respiratory failure, Stillbirth OMIM:304120
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Severe short stature, Anophthalmia ORPHA:2526
Plague
Hepatomegaly, Depression, Lymphadenitis, Splenomegaly, Delirium, Enlarged mesenteric lymph node, ... ORPHA:707
Frontofacionasal Dysplasia
Cranium bifidum occultum, Microphthalmia OMIM:229400
Linear Skin Defects With Multiple Congenital Anomalies 1
Short stature, Microphthalmia OMIM:309801
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Respiratory failure ORPHA:2636
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis ORPHA:99050
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Intrauterine growth retardation, Optic nerve hypoplasia, Bilateral microphthalmos, Severe short s... ORPHA:468631
Chikungunya
Depression, Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Osteoporosis-Pseudoglioma Syndrome
Short stature, Phthisis bulbi, Microphthalmia OMIM:259770
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Aicardi Syndrome
Delayed puberty, Microphthalmia ORPHA:50
Microphthalmia With Limb Anomalies
Short stature, Microphthalmia, True anophthalmia ORPHA:1106
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Short stature, Occipital meningocele OMIM:610829
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Intrauterine growth retardation, Microphthalmia OMIM:608670
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Fontaine Progeroid Syndrome
Intrauterine growth retardation, Microphthalmia, Short stature, Umbilical hernia OMIM:612289
Mend Syndrome
Short stature, Microphthalmia ORPHA:401973
Cockayne Syndrome Type 3
Mild postnatal growth retardation, Microphthalmia ORPHA:90324
Cockayne Syndrome
Postnatal growth retardation, Delayed puberty, Microphthalmia, Growth delay, Severe short stature ORPHA:191
Steinfeld Syndrome
Microphthalmia OMIM:184705
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Microphthalmia ORPHA:306542
Congenital Tracheal Stenosis
Cyanosis ORPHA:141127
Aortic Arch Interruption
Cyanosis ORPHA:2299
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Focal Dermal Hypoplasia
Microphthalmia, Aniridia, Spina bifida occulta, Anophthalmia, Myelomeningocele, Short stature, Um... OMIM:305600
Phace Syndrome
Optic nerve hypoplasia, Microphthalmia, Lens coloboma ORPHA:42775
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Skin Creases, Congenital Symmetric Circumferential, 2
Short stature, Microphthalmia OMIM:616734
Traboulsi Syndrome
Microphthalmia OMIM:601552
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia OMIM:609945
Degcags Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:619488
Goodpasture Syndrome
Increased blood urea nitrogen, Cyanosis OMIM:233450
Monosomy 9P
Microphthalmia ORPHA:261112
Coffin-Lowry Syndrome
Short stature, Cutis marmorata, Acrocyanosis OMIM:303600
Adams-Oliver Syndrome 1
Microphthalmia, Encephalocele OMIM:100300
Hydrolethalus Syndrome 1
Intrauterine growth retardation, Microphthalmia, Anencephaly OMIM:236680
Fraser Syndrome
Microphthalmia, Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia ORPHA:2052
Acromelic Frontonasal Dysostosis
Optic nerve hypoplasia, Remnants of the hyaloid vascular system OMIM:603671
Fryns Syndrome
Microphthalmia OMIM:229850
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Witteveen-Kolk Syndrome
Microphthalmia, Short stature, Growth delay, Intrauterine growth retardation, Branchial fistula OMIM:613406
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia ORPHA:3186
Proboscis Lateralis
Optic nerve hypoplasia, Microphthalmia, Anophthalmia ORPHA:141099
Renpenning Syndrome 1
Short stature, Microphthalmia OMIM:309500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina OMIM:253280
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Charge Syndrome
Postnatal growth retardation, Delayed puberty, Microphthalmia, Anophthalmia, Unilateral microphth... OMIM:214800
8Q24.3 Microdeletion Syndrome
Bilateral microphthalmos, Spina bifida occulta, Optic nerve hypoplasia, Short stature, Infancy on... ORPHA:508488
Ulbright-Hodes Syndrome
Respiratory failure ORPHA:3404
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Branchiooculofacial Syndrome
Postnatal growth retardation, Microphthalmia, Anophthalmia, Branchial anomaly, Intrauterine growt... OMIM:113620
Lowe Oculocerebrorenal Syndrome
Short stature, Microphthalmia, Postnatal growth retardation OMIM:309000
Pallister-Hall Syndrome
Intrauterine growth retardation, Microphthalmia, Short stature, Umbilical hernia ORPHA:672
Holoprosencephaly 1
Short stature, Microphthalmia OMIM:236100
Fraser Syndrome 1
Bilateral microphthalmos, Encephalocele, Myelomeningocele, Anophthalmia OMIM:219000
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia OMIM:612474
Tetraamelia Syndrome 1
Microphthalmia OMIM:273395
Roberts-Sc Phocomelia Syndrome
Postnatal growth retardation, Frontal encephalocele, Microphthalmia, Severe intrauterine growth r... OMIM:268300
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Iris coloboma OMIM:157170
Hypermobile Ehlers-Danlos Syndrome
Bruising susceptibility, Acrocyanosis ORPHA:285
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
Mowat-Wilson Syndrome
Short stature, Microphthalmia OMIM:235730
Townes-Brocks Syndrome
Delayed puberty, Microphthalmia, Short stature ORPHA:857
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microphthalmia, Hypoplasia of the iris OMIM:175780
Craniofacial Microsomia 1
Branchial anomaly, Occipital encephalocele, Microphthalmia, Anophthalmia OMIM:164210
Mowat-Wilson Syndrome
Short stature, Microphthalmia, Growth delay ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Short stature, Microphthalmia ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Short stature, Microphthalmia ORPHA:261552
Microphthalmia, Syndromic 1
Growth delay, Microphthalmia, Anophthalmia OMIM:309800

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.

Phenotype Allele Zygosity Sex Life Stage
Lymph node - MPATH pathological process term hyperplasia Stim1em1(IMPC)Mbp HET Early adult
Spleen - MPATH pathological process term hyperplasia Stim1em1(IMPC)Mbp HET Late adult

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 Stim1.

No publications found that use IMPC mice or data for Stim1.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Stim1tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Stim1em1(IMPC)Mbp Exon Deletion Mice, Tissue
Stim1tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

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

Subscribe to newsletter