Gene Summary

Name:
sprouty protein with EVH-1 domain 1, related sequence
Synonyms:
5730461F13Rik,  Spred-1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
abnormal vertebral arch morphology Spred1em1(IMPC)Ccpcz HOM Early adult 4.21×10-05
decreased locomotor activity Spred1em1(IMPC)Ccpcz HOM Early adult 9.31×10-06
increased CD4-positive NK T cell number Spred1em1(IMPC)Ccpcz HOM Early adult 1.46×10-12
abnormal eye morphology Spred1em1(IMPC)Ccpcz HOM Early adult 0.00
increased circulating potassium level Spred1em1(IMPC)Ccpcz HOM Early adult 7.67×10-05
enlarged lymph nodes Spred1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart morphology Spred1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal auditory brainstem response Spred1em1(IMPC)Ccpcz HOM   Early adult 3.10×10-16
abnormal mandible morphology Spred1em1(IMPC)Ccpcz HOM Early adult 2.46×10-08
increased memory-marker CD4-positive NK T cell number Spred1em1(IMPC)Ccpcz HOM Early adult 1.85×10-12
abnormal retina morphology Spred1em1(IMPC)Ccpcz HOM Early adult 3.69×10-09
abnormal ovary morphology Spred1em1(IMPC)Ccpcz HOM Early adult 0.00
increased NK T cell number Spred1em1(IMPC)Ccpcz HOM Early adult 1.58×10-12
increased spleen weight Spred1em1(IMPC)Ccpcz HOM Early adult 1.46×10-29
abnormal snout morphology Spred1em1(IMPC)Ccpcz HOM Early adult 3.92×10-07
abnormal vertebrae morphology Spred1em1(IMPC)Ccpcz HOM Early adult 3.72×10-05
abnormal head size Spred1em1(IMPC)Ccpcz HOM Early adult 8.62×10-22
abnormal cranium morphology Spred1em1(IMPC)Ccpcz HOM Early adult 4.16×10-11
abnormal tooth morphology Spred1em1(IMPC)Ccpcz HOM Early adult 4.72×10-15
abnormal zygomatic bone morphology Spred1em1(IMPC)Ccpcz HOM Early adult 8.73×10-17
enlarged spleen Spred1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Spred1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Spred1em1(IMPC)Ccpcz HOM Early adult 0.00
increased neutrophil cell number Spred1em1(IMPC)Ccpcz HOM   Early adult 5.81×10-10
enlarged thymus Spred1em1(IMPC)Ccpcz HOM Early adult 0.00
increased effector memory T-helper cell number Spred1em1(IMPC)Ccpcz HOM Early adult 2.22×10-06
abnormal brain morphology Spred1em1(IMPC)Ccpcz HOM Early adult 0.00
decreased lymphocyte cell number Spred1em1(IMPC)Ccpcz HOM Early adult 7.41×10-08
abnormal skin coloration Spred1em1(IMPC)Ccpcz HOM Early adult 4.02×10-10
increased circulating aspartate transaminase level Spred1em1(IMPC)Ccpcz HOM Early adult 1.01×10-11
decreased grip strength Spred1em1(IMPC)Ccpcz HOM   Early adult 2.64×10-05
abnormal maxilla morphology Spred1em1(IMPC)Ccpcz HOM Early adult 4.25×10-14
decreased circulating alkaline phosphatase level Spred1em1(IMPC)Ccpcz HOM Early adult 7.63×10-29
abnormal bone structure Spred1em1(IMPC)Ccpcz HOM Early adult 0.00
tremors Spred1em1(IMPC)Ccpcz HOM Early adult 7.45×10-12
anophthalmia Spred1em1(IMPC)Ccpcz HOM Early adult 0.00
vertebral fusion Spred1em1(IMPC)Ccpcz HOM Early adult 5.27×10-05
abnormal lymph node morphology Spred1em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged heart Spred1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal startle reflex Spred1em1(IMPC)Ccpcz HOM Early adult 7.92×10-05
hydrocephaly Spred1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal head morphology Spred1em1(IMPC)Ccpcz HOM Early adult 7.84×10-21
increased effector memory CD8-positive, alpha-beta T cell number Spred1em1(IMPC)Ccpcz HOM   Early adult 4.22×10-05
abnormal seminal vesicle morphology Spred1em1(IMPC)Ccpcz HOM Early adult 0.00
decreased body weight Spred1em1(IMPC)Ccpcz HOM   Early adult 5.55×10-05
abnormal skin morphology Spred1em1(IMPC)Ccpcz HOM Early adult 0.00
increased kidney weight Spred1em1(IMPC)Ccpcz HOM   Early adult 9.93×10-05
increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number Spred1em1(IMPC)Ccpcz HOM   Early adult 8.27×10-06
small seminal vesicle Spred1em1(IMPC)Ccpcz HOM Early adult 0.00
increased freezing behavior Spred1em1(IMPC)Ccpcz HOM Early adult 1.99×10-12
fusion of vertebral arches Spred1em1(IMPC)Ccpcz HOM Early adult 3.15×10-06
increased thigmotaxis Spred1em1(IMPC)Ccpcz HOM   Early adult 1.17×10-05
increased circulating alanine transaminase level Spred1em1(IMPC)Ccpcz HOM Early adult 1.85×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

21 Images

X-ray

XRay Images Whole Body Dorso Ventral

42 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

21 Images

X-ray

XRay Images Forepaw

21 Images

X-ray

XRay Images Skull Lateral Orientation

21 Images

X-ray

XRay Images Hind Leg and Hip

42 Images

Human diseases caused by Spred1 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 associated to Spred1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Spred1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Increased circulating antibody level, Thrombocytosis, Congenital agranulocytosis, Acute m... OMIM:202700
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Acute Myelomonocytic Leukemia
Anemia, Leukocytosis, Thrombocytopenia, Weight loss, Eosinophilia ORPHA:517
Cockayne Syndrome Type 1
Hypoplasia of the primary teeth, Hypermelanotic macule, Ataxia, Anodontia, Delayed eruption of pr... ORPHA:90321
Immunodeficiency 88
Eosinophilia OMIM:619630
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Increased circul... OMIM:212050
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Immunodeficiency 32B
Anemia, Abnormal circulating IgG level, Eosinophilia, Failure to thrive, Neutrophilia, Thrombocyt... OMIM:226990
Specific Granule Deficiency 1
Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida... OMIM:245480
Kimura Disease
Eosinophilia, Increased circulating IgE level ORPHA:482
Developmental And Epileptic Encephalopathy 36
Optic atrophy, Hepatomegaly, Hypsarrhythmia, Hydrocephalus, Scoliosis, Abnormality of extrapyrami... OMIM:300884
Cockayne Syndrome Type 2
Hypoplasia of the primary teeth, Hypermelanotic macule, Kyphosis, Ataxia, Anodontia, Delayed erup... ORPHA:90322
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Iron deficiency anemia, Increased ... OMIM:601859
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, C... ORPHA:66624
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Infantile Sialic Acid Storage Disease
Osteopenia, Hepatomegaly, Hydrocephalus, Vacuolated lymphocytes, Gingival overgrowth, Hypopigment... OMIM:269920
Immunodeficiency 25
Autoimmune hemolytic anemia, Increased circulating IgG level, Complete or near-complete absence o... OMIM:610163
Holoprosencephaly
Microphthalmia, Solitary median maxillary central incisor, Abnormal form of the vertebral bodies,... ORPHA:2162
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Increased circulating antibody level, Increased cir... ORPHA:169154
Microphthalmia, Syndromic 12
Retrognathia, Microphthalmia, Anophthalmia, Hypoplastic left atrium, Bicornuate uterus, Cryptorch... OMIM:615524
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Tip-toe gait, Difficulty walking, Scoliosis, Hyperlordosis, Facial palsy, Elevated circulating cr... OMIM:606612
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Decreased circulating total IgM, Increased circulating IgE level OMIM:617638
Verheij Syndrome
Retrognathia, Short nose, Long philtrum, Small for gestational age, Optic nerve hypoplasia, Scoli... OMIM:615583
Trisomy 13
Microphthalmia, Sensorineural hearing impairment, Kyphosis, Multiple renal cysts, Long philtrum, ... ORPHA:3378
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Microcephaly, Bone marrow hypocellularity, Leukopenia, Splenomegaly, Neutropenia... OMIM:617303
Myopathy With Extrapyramidal Signs
Hypervalinemia, Hyperactivity, Chorea, Microcephaly, Ataxia, Splenomegaly, Clumsiness, Joint hype... OMIM:615673
Meckel Syndrome, Type 8
Short nose, Enlarged kidney, Microphthalmia, Ambiguous genitalia, Occipital encephalocele, Enceph... OMIM:613885
Mirage Syndrome
Hyperkalemia, Anemia, Hypospadias, Radial club hand, Hydrocephalus, Recurrent urinary tract infec... OMIM:617053
Immunodeficiency 104
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Failure to thrive secondary to recurrent i... OMIM:608971
Kbg Syndrome
Widely-spaced maxillary central incisors, Scoliosis, Thoracic kyphosis, Bilateral conductive hear... ORPHA:2332
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Leukope... OMIM:615285
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Aarskog-Scott Syndrome
Long philtrum, Orofacial cleft, Low-set, posteriorly rotated ears, Delayed eruption of teeth, Gen... ORPHA:915
Koolen-De Vries Syndrome
Ureteral duplication, Everted lower lip vermilion, Kyphosis, Microdontia, Microcephaly, Bicuspid ... ORPHA:96169
Esophagitis, Eosinophilic, 2
Eosinophilia, Failure to thrive OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia, Failure to thrive OMIM:610247
Generalized Eruptive Histiocytosis
Hypereosinophilia, Histiocytosis, Leukemia ORPHA:157991
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Reduced circulating interleukin 22 concentratio... OMIM:619632
Mantle Cell Lymphoma
Anorexia, Splenomegaly, Lymphadenopathy, Weight loss ORPHA:52416
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... ORPHA:331206
Glut1 Deficiency Syndrome 2
Irritability, Reduced haptoglobin level, Increased CSF lactate, Tremor, Reticulocytosis, Dystonia... OMIM:612126
Congenital Toxoplasmosis
Microphthalmia, Jaundice, Hepatomegaly, Anemia, Lymphadenopathy, Hydrocephalus, Ascites, Microcep... ORPHA:858
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal vertebral morphology, Hydrocephalus, Microcephaly, Ataxia, Motor stereotypy, Attention d... OMIM:618709
Developmental And Speech Delay Due To Sox5 Deficiency
Optic atrophy, Butterfly vertebrae, Narrow palate, Aggressive behavior, Dental crowding, Scoliosi... ORPHA:313892
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent sinusitis, Splenomegaly, Stage 5 chronic kidney disease, Hepatosplenomegaly, Increased ... OMIM:615559
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr... OMIM:619802
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Sensorineural hearing impairment, Scoliosis, Facial palsy, High palate... OMIM:617519
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Failure to thrive secondary to recurrent infections, Decrea... ORPHA:169160
Fanconi Anemia, Complementation Group I
Microphthalmia, Decreased response to growth hormone stimulation test, Fused cervical vertebrae, ... OMIM:609053
Cohen Syndrome
Childhood-onset truncal obesity, Bone spicule pigmentation of the retina, Microcephaly, Leukopeni... OMIM:216550
Osteopetrosis, Autosomal Recessive 1
Femur fracture, Splenomegaly, Pathologic fracture, Craniosynostosis, Optic atrophy, Pancytopenia,... OMIM:259700
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Iron deficiency anemia, Increased ... OMIM:603909
Cockayne Syndrome A
Sensorineural hearing impairment, Abnormal pinna morphology, Retinal atrophy, Kyphosis, Microceph... OMIM:216400
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Ring Chromosome 21 Syndrome
Azoospermia, Scoliosis, Spasticity, Multiple cafe-au-lait spots, Gait disturbance, Microcephaly, ... ORPHA:1445
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Flat acetabular roof, Hypopigmentation of the skin, Wide mouth, Splenomegaly, Pa... OMIM:252500
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Indolent Systemic Mastocytosis
Splenomegaly, Abnormal mast cell morphology, Increased proportion of CD25+ mast cells, Mastocytosis ORPHA:98848
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center, Endocardial fibrosis, Microcephaly OMIM:235550
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Joint stiffness, Bone marrow hypocellularity, Abnormal heart morphology, Leukope... ORPHA:505248
Cockayne Syndrome B
Microphthalmia, Sensorineural hearing impairment, Abnormal pinna morphology, Kyphosis, Microcepha... OMIM:133540
Microphthalmia, Syndromic 9
Multilobulated spleen, Pulmonic stenosis, Renal malrotation, Pelvic kidney, Truncus arteriosus, B... OMIM:601186
Sandhoff Disease
Hepatomegaly, Kyphosis, Hearing impairment, Failure to thrive, Ataxia, Splenomegaly, Cherry red s... ORPHA:796
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Microcephaly, Recurrent sinusitis, Joint hypermobility, Craniosynostosis, Decreased response to g... OMIM:213980
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu... OMIM:613496
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphoscoliosis, Retrognathia, Limited elbow movement, Left atrial enlargement, Ventricular hypert... OMIM:300280
Arthrogryposis, Distal, Type 2A
Kyphoscoliosis, Flexion contracture of toe, Dental crowding, Wrist flexion contracture, Microceph... OMIM:193700
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology, Weight loss ORPHA:3165
Osteopetrosis, Autosomal Recessive 5
Ascites, Microcephaly, Splenomegaly, Long philtrum, Ventriculomegaly, Optic atrophy, Irritability... OMIM:259720
1Q21.1 Microduplication Syndrome
Hypertonia, Hypospadias, Hydrocephalus, Cryptorchidism, Failure to thrive, Tetralogy of Fallot, A... ORPHA:250994
Walker-Warburg Syndrome
Microphthalmia, Hypoplasia of penis, Abnormal optic nerve morphology, Microcephaly, Bifid uvula, ... ORPHA:899
Atypical Teratoid Rhabdoid Tumor
Irritability, Hydrocephalus, Limitation of joint mobility, Cerebral palsy, Hemiplegia/hemiparesis... ORPHA:99966
Congenital Disorder Of Glycosylation, Type Ie
Optic atrophy, Secondary microcephaly, Ankle flexion contracture, Hepatomegaly, High, narrow pala... OMIM:608799
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Delirium, Aggressive behavior ORPHA:208441
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Lymph node hypoplasia, Splenomegaly, Ataxia, Lymphopenia, Increased circulating guanos... OMIM:613179
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level OMIM:618523
Carpenter Syndrome 1
Sensorineural hearing impairment, Abnormal pinna morphology, Agenesis of permanent teeth, Pulmoni... OMIM:201000
Immunodeficiency 53
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent uri... OMIM:617585
H Syndrome
Hypertriglyceridemia, Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Azoospermia, H... ORPHA:168569
Aicardi-Goutieres Syndrome 6
Irritability, Hepatomegaly, Tremor, CSF pleocytosis, Microcephaly, Increased CSF interferon alpha... OMIM:615010
Microphthalmia With Limb Anomalies
Retrognathia, Microphthalmia, Sacral dimple, Short nose, Camptodactyly of 2nd-5th fingers, Anopht... OMIM:206920
Congenital Disorder Of Glycosylation, Type Ik
Thin vermilion border, Hepatomegaly, Cardiomyopathy, Microcephaly, Micrognathia, Joint contractur... OMIM:608540
Lateral Meningocele Syndrome
Dental crowding, Kyphosis, Biconcave vertebral bodies, Bicuspid aortic valve, Joint hypermobility... OMIM:130720
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Short philtrum, Anophthalmia, Hypsarrhythmia, Prominent ear helix, Everted low... ORPHA:411986
Cohen Syndrome
Microphthalmia, Sensorineural hearing impairment, Kyphosis, Tooth agenesis, Microcephaly, Mitral ... ORPHA:193
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Eosinophilia, Increased circulating IgE level OMIM:620532
Microphthalmia With Linear Skin Defects Syndrome
Retrognathia, Microphthalmia, Clitoral hypertrophy, Abnormal earlobe morphology, Microcephaly, Mi... ORPHA:2556
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Increased circulating IgE level, Decreased FOXP3-expressing T cell count, Failure to thri... OMIM:304790
Koolen-De Vries Syndrome
Spondylolisthesis, Hyperactivity, Everted lower lip vermilion, Kyphosis, Impulsivity, Microcephal... OMIM:610443
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Kyphoscoliosis, Spastic gait, Wrist flexion contracture, Microcephaly, Spastic paraplegia, Ataxia... OMIM:300055
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Abnormally lo... OMIM:619374
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Recurrent otitis media, Lymphadenopathy, Hemiparesis, Splenomegaly, ... ORPHA:444463
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Hydrocephalus, Dandy-Walker malformation, Micrognathia, Orbital craniosynostosis ORPHA:1538
Wolf-Hirschhorn Syndrome
Abnormal form of the vertebral bodies, Sensorineural hearing impairment, Abnormal pinna morpholog... OMIM:194190
Roifman Syndrome
Biconvex vertebral bodies, Recurrent otitis media, Lymphadenopathy, Retinal dystrophy, Noncompact... ORPHA:353298
Immunodeficiency 27A
Anorexia, Anemia, Lymphadenopathy, Salmonella osteomyelitis, Leukocytosis, Hepatosplenomegaly, Sp... OMIM:209950
Immunodeficiency 7
Autoimmune hemolytic anemia, Failure to thrive, Splenomegaly, Hypereosinophilia, Neutropenia OMIM:615387
Albers-Schönberg Osteopetrosis
Optic atrophy, Genu valgum, Anemia, Joint dislocation, Avascular necrosis, Hypocalcemia, Abnormal... ORPHA:53
Fried Syndrome
Short philtrum, Hydrocephalus, Scoliosis, High palate, Abnormal optic nerve morphology, Gait dist... ORPHA:85335
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Hypospadias, Hyperlordosis, Low-set ears, Kyphosis, Abnormality of the ... ORPHA:2522
Burkitt Lymphoma
Neoplasm of the oral cavity, Abnormal lymph node morphology, Hyperuricemia, Abnormality of the ov... ORPHA:543
Birk-Landau-Perez Syndrome
Optic atrophy, Hyperkalemia, Stage 3 chronic kidney disease, Limb ataxia, Difficulty walking, Ocu... OMIM:617595
Hereditary Folate Malabsorption
Pancytopenia, Megaloblastic anemia, Decreased circulating antibody level, Failure to thrive, Thro... ORPHA:90045
Paternal Uniparental Disomy Of Chromosome 1
Macular dystrophy, Enlarged kidney, Abnormal retinal morphology on macular OCT, Abnormal dental e... ORPHA:251004
Brachydactyly, Type B1
Hypoplastic sacrum, Delayed cranial suture closure, Hemivertebrae, Camptodactyly, Thoracolumbar s... OMIM:113000
Mast Cell Sarcoma
Splenomegaly, Mastocytosis ORPHA:66661
Gaucher Disease
Decreased HDL cholesterol concentration, Oculomotor apraxia, Retinopathy, Joint stiffness, Delaye... ORPHA:355
Gm1 Gangliosidosis
Abnormal form of the vertebral bodies, Decerebrate rigidity, Hyperlordosis, Cardiomyopathy, Kypho... ORPHA:354
Roifman Syndrome
Hepatomegaly, Biconvex vertebral bodies, Lymphadenopathy, Retinal dystrophy, Recurrent otitis med... OMIM:616651
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent otitis media, Mediastinal lymphadenopathy, Lymphadenopathy, Recurrent sinusitis, Decrea... OMIM:300853
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Hydrocephalus, Progressive microcephaly, CSF lymphocytic pleiocytosis... OMIM:610333
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Periostitis, Hepatomegaly, Fused cervical vertebrae, Elevated circulating C-reactive ... OMIM:612852
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Failure to thrive, Spleno... OMIM:617514
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Tip-toe gait, Exercise-induced myoglobinuria, Difficulty walking, Scoliosis, Hyperlordosis, Waddl... OMIM:607155
Kaposiform Lymphangiomatosis
Enlarged kidney, Anemia, Abnormal form of the vertebral bodies, Abnormality of the lymphatic syst... ORPHA:464329
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Anorexia, Hepatomegaly, Pancreatitis, Anemia, Cardiomyopathy, Hyperammonemia, Fail... ORPHA:79312
Atypical Pantothenate Kinase-Associated Neurodegeneration
Chorea, Impulsivity, Limb dystonia, Retinopathy, Rigidity, Dysphagia, Clumsiness, Optic atrophy, ... ORPHA:216873
Charge Syndrome
Microphthalmia, Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Microcephal... OMIM:214800
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Broad-based gait, Hyperactivity, Hydrocephalus, Elbow flexion contracture, Tremor,... OMIM:619470
Meckel Syndrome
Microphthalmia, Ureteral duplication, Anencephaly, Microcephaly, Pancreatic fibrosis, Abnormal ch... ORPHA:564
Robinow Syndrome, Autosomal Recessive 1
Retrognathia, Hypoplastic sacrum, Dislocated radial head, Dental crowding, Microtia, Tooth agenes... OMIM:268310
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Osteoporosis, Splenomegaly, Abnor... ORPHA:100024
Isolated Klippel-Feil Syndrome
Renal hypoplasia/aplasia, Cervical C2/C3 vertebral fusion, Abnormality of the vertebral column, A... ORPHA:2345
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Retrognathia, Cirrhosis, Hepatomegaly, Unilateral renal agenesis, Pancytopenia, Hy... OMIM:614576
Trisomy 1Q
Congenital megaureter, Anophthalmia, Hydrocephalus, Low-set ears, Narrow mouth, Cryptorchidism, C... ORPHA:261344
Pycnodysostosis
Spondylolysis, Spondylolisthesis, Hyperlordosis, Kyphosis, Persistent open anterior fontanelle, J... ORPHA:763
Peeling Skin Syndrome 1
Eosinophilia, Increased circulating IgE level OMIM:270300
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Optic atrophy, Babinski sign, Inability to walk by childhood/adolescence, Steppage gait, Hydrocep... ORPHA:99947
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Neuraminidase Deficiency
Hepatomegaly, Epiphyseal stippling, Vacuolated lymphocytes, Bone-marrow foam cells, Sensorineural... OMIM:256550
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Unilateral renal agenesis, Bilateral renal agenesis, Vertebral segmentation defect... OMIM:618845
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Tetraplegia, Hypoproteinemia, Leuk... OMIM:267700
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Thromboc... OMIM:603552
Diabetic Embryopathy
Ureteral duplication, Renal hypoplasia/aplasia, Microtia, Microcephaly, Abnormal sacrum morpholog... ORPHA:1926
Kniest Dysplasia
Aplasia/Hypoplasia of the lens, Lattice retinal degeneration, Rhegmatogenous retinal detachment, ... ORPHA:485
Beemer Lethal Malformation Syndrome
Hydrocephalus, Ambiguous genitalia, Thrombocytopenia, Wide nasal bridge OMIM:209970
Otopalatodigital Syndrome Type 2
Abnormal pinna morphology, Glossoptosis, Myelomeningocele, Hypoplastic frontal sinuses, Anodontia... ORPHA:90652
Proteus Syndrome
Kyphoscoliosis, Calvarial hyperostosis, Mandibular hyperostosis, Spinal canal stenosis, Lymphangi... OMIM:176920
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Recurrent aphthous stomat... OMIM:611762
Igg4-Related Aortitis
Increased circulating antibody level, Increased circulating IgE level, Increased circulating IgG4... ORPHA:449400
Niemann-Pick Disease, Type A
Irritability, Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Inability to walk, Bone-marr... OMIM:257200
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Jaundice, Cirrhosis, Tubular luminal dilatation, Hepatocellular carcinoma, Porta... OMIM:619902
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the earlobes, Abnormal dental enamel... ORPHA:2916
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia, Increased circulating IgE lev... OMIM:602450
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Cubitus valgus, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Avascular... OMIM:619750
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Retrognathia, Hyperactivity, Sensorineural hearing impairment, Dental crowding, Everted lower lip... OMIM:618342
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Increased circulating IgE level, Leukocytosis, Weight loss ORPHA:2902
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Anemia, Bone pain, Intention tremor, Thrombocytopenia, Splenomegaly, My... OMIM:610539
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Cranial hyperostosis, Osteopetrosis, Genu valgum, Anemia, Pancytopenia, Diaphyseal... OMIM:259710
Alpha-Mannosidosis
Chronic otitis media, Kyphosis, Delayed skeletal maturation, Splenomegaly, Narrow palate, Craniof... ORPHA:61
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Progressive Supranuclear Palsy
Irritability, Memory impairment, Falls, Depression, Emotional lability, Impulsivity, Cognitive im... ORPHA:683
Gm1-Gangliosidosis, Type Iii
Hepatomegaly, Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae, Scoliosis, Kyphosis, ... OMIM:230650
48,Xxyy Syndrome
Chronic otitis media, Hypoplasia of penis, Ataxia, Joint hypermobility, Ventriculomegaly, Taurodo... ORPHA:10
Cinca Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Red... ORPHA:1451
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Cardiomyopathy, Accelerated skeletal maturation, Wide ... ORPHA:373
Hurler Syndrome
Abnormal nerve conduction velocity, Cardiomyopathy, Cerebral palsy, Everted lower lip vermilion, ... ORPHA:93473
Ghosal Hematodiaphyseal Dysplasia
Abnormal cortical bone morphology, Anemia, Craniofacial hyperostosis, Abnormal form of the verteb... ORPHA:1802
Emanuel Syndrome
Dental crowding, Kyphosis, Microcephaly, Pulmonic stenosis, Aortic valve stenosis, Recurrent sinu... OMIM:609029
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Proteus-Like Syndrome
Irregular hyperpigmentation, Retinal detachment, Genu recurvatum, Mandibular prognathia, Hyperost... ORPHA:2969
Microcephaly With Cervical Spine Fusion Anomalies
Microcephaly, Spinal instability, Vertebral fusion OMIM:251250
Temple Syndrome
Hypertriglyceridemia, Recurrent otitis media, Short philtrum, Truncal obesity, Hydrocephalus, Sco... OMIM:616222
Matthew-Wood Syndrome
Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Vesicouretera... ORPHA:2470
Mucopolysaccharidosis Type 3
Chronic otitis media, Mixed hearing impairment, Reduced bone mineral density, Abnormal form of th... ORPHA:581
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... OMIM:617610
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Reduced bone mineral density, Hepatomegaly, Joint dislocation, Recurrent urinary tract infections... OMIM:620210
Leishmaniasis
Anorexia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal oral cavity morphology, Pancytopenia, A... ORPHA:507
Hydrolethalus
Retrognathia, Microphthalmia, Gingival cleft, Low-set, posteriorly rotated ears, Abnormal fallopi... ORPHA:2189
Activated Pi3K-Delta Syndrome
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, ... ORPHA:397596
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia OMIM:618092
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Recurrent sinusitis, Thrombocyto... OMIM:613101
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal bone ossification, Reduced bone mineral density, Biconvex vertebral bodies, Small earlob... ORPHA:93315
Diaphanospondylodysostosis
Absent in utero rib ossification, Short nose, Enlarged kidney, Abnormal liver lobulation, Lumbosa... OMIM:608022
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Kyphoscoliosis, Irritability, Anorexia, Focal EEG discharges with secondary generalization, Abnor... ORPHA:3077
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased distal sensory nerve action potential, Decreased sensory nerve conduction velocity, Dec... ORPHA:206594
Vacterl With Hydrocephalus
Retrognathia, Microphthalmia, Renal hypoplasia/aplasia, Aqueductal stenosis, Abnormal fallopian t... ORPHA:3412
Mevalonic Aciduria
Kyphoscoliosis, Microcephaly, Attenuation of retinal blood vessels, Ataxia, Normocytic hypoplasti... OMIM:610377
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Joint stiffness, Splenomegaly, Cardiomegaly, Hepatocellular carcinoma, Portal hyp... ORPHA:465508
Mogs-Cdg
Optic atrophy, Retrognathia, Hepatomegaly, External genital hypoplasia, Sensorineural hearing imp... ORPHA:79330
Pontocerebellar Hypoplasia, Type 15
Hypertonia, Anemia, Hydrocephalus, Chronic neutropenia, Dystonia, Thrombocytopenia, Spastic tetra... OMIM:619302
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Microcephaly, Hyperammonemia, Cardiomegaly, Ventriculomega... OMIM:608836
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Felty Syndrome
Irregular hyperpigmentation, Chronic otitis media, Hepatomegaly, Anemia, Lymphadenopathy, Arthrit... ORPHA:47612
Sialidosis Type 1
Decreased nerve conduction velocity, Thick lower lip vermilion, Abnormal form of the vertebral bo... ORPHA:812
Oculocerebrorenal Syndrome Of Lowe
Chronic otitis media, Microphthalmia, Cheilitis, Dental crowding, Everted lower lip vermilion, Ky... ORPHA:534
Lamb-Shaffer Syndrome
Optic atrophy, Abnormal temper tantrums, Fused cervical vertebrae, Hyperactivity, Scoliosis, Thor... ORPHA:530983
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgG level, Increased circulating IgA level, Fa... OMIM:617388
Fucosidosis
Spastic gait, Absent/hypoplastic paranasal sinuses, Absent/hypoplastic coccyx, Splenomegaly, Card... OMIM:230000
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Dandy-Walker malformation, Orbital encephalocele, Congenital hip di... OMIM:164180
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Short nose, Hypertonia, Thin vermilion border, Hypospadias, Hydrocephalus, Microtia, Low-set ears... ORPHA:171839
Frontometaphyseal Dysplasia 1
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Sensorineural he... OMIM:305620
Griscelli Syndrome
Abnormal circulating lipid concentration, Hypopigmented skin patches, Jaundice, Hepatomegaly, Lym... ORPHA:381
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased skull ossification, Ascites, Multiple prenatal fractures, Microcephaly, Unilateral clef... OMIM:616897
Sialidosis Type 2
Hepatomegaly, Tremor, Ascites, Kyphosis, Osteoporosis, Hearing impairment, Ataxia, Splenomegaly, ... ORPHA:87876
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
Mosaic Trisomy 20
Retrognathia, Kyphosis, Abnormal mitral valve morphology, Dysplastic tricuspid valve, Craniofacia... ORPHA:1724
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Short nose, Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity, Ina... OMIM:218000
Charge Syndrome
Microphthalmia, Abnormal pinna morphology, Microtia, Bifid scrotum, Microcephaly, Dysphagia, Hypo... ORPHA:138
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Abnormal vertebral morphology, Hypospadias, Anophthalmia, Hypoplasia of penis, Hy... ORPHA:77298
Pontocerebellar Hypoplasia, Type 14
Hypertonia, Hydrocephalus, Chronic neutropenia, Dystonia, Thrombocytopenia, Spastic tetraplegia OMIM:619301
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormal form of the vertebral bodies, Hydrocephalus, Scoliosis, Verteb... ORPHA:1834
Ogden Syndrome
Left atrial enlargement, Enlarged kidney, Everted upper lip vermilion, Microcephaly, Delayed skel... OMIM:300855
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Short nose, Thin vermilion border, Abnormal palate morphology, Thick lower lip vermilion, Abnorma... ORPHA:2701
Gaucher Disease Type 1
Decreased HDL cholesterol concentration, Ascites, Delayed skeletal maturation, Leukopenia, Spleno... ORPHA:77259
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Tetraplegia, Hypoproteinemia, Leukopenia, Splenomegaly, Ataxia, Hemiplegia,... OMIM:603553
Phenylketonuria
Osteopenia, Lower limb spasticity, Depression, Hyperphenylalaninemia, Hypopigmentation of the ski... ORPHA:716
Robinow Syndrome
Kyphoscoliosis, Mixed hearing impairment, Broad alveolar ridges, Dental crowding, Pulmonic stenos... ORPHA:97360
Gm1-Gangliosidosis, Type Ii
Optic atrophy, Beaking of vertebral bodies, Sea-blue histiocytosis, Hepatomegaly, Platyspondyly, ... OMIM:230600
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Osteopetrosis, Stage 3 chronic kidney disease, Anemia, Increased bone mineral densi... OMIM:620366
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Azoospermia, Hyperpigmentation of the skin, Arthropathy, Hepatocellular ... OMIM:235200
Spinocerebellar Ataxia, Autosomal Recessive 20
Kyphoscoliosis, Babinski sign, Hepatomegaly, Inability to walk, Apraxia, Delayed eruption of teet... OMIM:616354
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280785
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular coloboma, Cervical myelopathy, Geographic atrophy, Tetraparesis, Sensorineural hearing im... OMIM:619260
Pgm3-Cdg
Increased circulating IgG level, Decreased proportion of CD3-positive T cells, Increased circulat... ORPHA:443811
Helsmoortel-Van Der Aa Syndrome
Enlarged kidney, Hyperactivity, Hyperlordosis, Everted lower lip vermilion, Microdontia, Abnormal... OMIM:615873
Cinca Syndrome
Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Arthritis, Leukoc... OMIM:607115
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Hyperactivity, Sensorineural hearing impairment, Microcephaly, I... OMIM:617796
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Scoliosis, Abnormal auditory evoked pote... OMIM:601382
Microphthalmia, Syndromic 2
Microphthalmia, Sensorineural hearing impairment, Microcephaly, Pulmonic stenosis, Aortic valve s... OMIM:300166
Gorlin Syndrome
Orofacial cleft, Abnormal vertebral morphology, Odontogenic keratocysts of the jaw, Vertebral wed... ORPHA:377
Atelis Syndrome 1
Irregular hyperpigmentation, Long philtrum, Hypertonia, Anemia, Lumbar kyphosis, Microtia, High p... OMIM:620184
Methylcobalamin Deficiency Type Cble
Glomerulopathy, Hemolytic-uremic syndrome, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, ... ORPHA:2169
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Cardiomyopathy, Hypophosphatemia, Splenomegaly, Genu varum, Rickets, I... ORPHA:289157
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Retrognathia, Hyperactivity, Abnormal pinna morphology, Tremor, Spasticity, High p... OMIM:300983
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Hyperactivity, Microcephaly, Lower limb hypertonia, Aggressive behavior, Babinski sign, Low frust... OMIM:300534
Optic Atrophy 11
Optic atrophy, Decreased sensory nerve conduction velocity, Hyperkinetic movements, Hyperactivity... OMIM:617302
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Azoospermia, Hyperpigmentation of the skin, Arthritis, Cardiomyopathy, I... OMIM:602390
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Sterile abscess, Increased circulating IgE level, Cutaneous abscess, Eosinophilia, Decreased circ... OMIM:618282
Renal Hypoplasia, Bilateral
Hyperkalemia, Anemia, Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microgl... ORPHA:97362
Emanuel Syndrome
Kyphoscoliosis, Dental crowding, Severe hearing impairment, Microcephaly, Pulmonic stenosis, Aort... ORPHA:96170
Mend Syndrome
Microphthalmia, Hyperactivity, Kyphosis, Aortic valve stenosis, Abnormal heart morphology, Aggres... ORPHA:401973
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Oligodontia, Limitation of joint mobility, Synostosis of carpal b... ORPHA:90650
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Optic nerve hypoplasia, Abnormal optic disc morphology, Microcephaly, Bicuspid ao... ORPHA:508498
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, Aplasia of the thymus, B... OMIM:102700
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Enlarged kidney, Hepatocellular adenoma, Tubulointerstitial fibrosis, Chron... ORPHA:79259
Netherton Syndrome
Hypereosinophilia, Decreased circulating IgG level, Increased circulating IgE level, Failure to t... OMIM:256500
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Cerebral palsy, Microcephaly, Colpocephaly, Ataxia, Ventriculomegaly, Aggressive behavior, Optic ... OMIM:619833
Trisomy 10P
Retrognathia, Abnormal heart morphology, Dysphagia, Multiple renal cysts, Primary microcephaly, A... ORPHA:171929
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Failure to thrive, Hepatosplenomegaly OMIM:618999
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertonia, Anemia, Sensorineural hearing impairment, Hyperlordosis, Limitation of joint mobility... ORPHA:1192
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Everted upper lip vermilion, Supernumerary nipple, Unilateral renal agenesis, Short philtrum, Bic... OMIM:619951
Wells Syndrome
Eosinophilia ORPHA:901
22Q11.2 Deletion Syndrome
Chronic otitis media, Microphthalmia, Small earlobe, Multiple suture craniosynostosis, Microcepha... ORPHA:567
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Anemia, Acute myeloid leukemia, Elevated circulating C-reactive protein con... ORPHA:158057
Cerebrotendinous Xanthomatosis
Prolonged neonatal jaundice, Abnormal atrial septum morphology, Ataxia, Aggressive behavior, Opti... ORPHA:909
Mucopolysaccharidosis Type 1
Chronic otitis media, Abnormal form of the vertebral bodies, Sensorineural hearing impairment, Ev... ORPHA:579
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Elevated circulating C-reactive protein concentr... OMIM:308240
Nasu-Hakola Disease
Acute leukemia, Irritability, Reduced bone mineral density, Oculomotor apraxia, Bone pain, Bone c... ORPHA:2770
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Periodontitis, Hydrocephalus, Gingivitis, Abnormality of the dentition, Hearing impairment, Melan... ORPHA:1008
Alg9-Cdg
Enlarged kidney, Abnormal bone ossification, Hypoplasia of the ovary, Progressive microcephaly, A... ORPHA:79328
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Biliary atresia, Myelomeningocele, Pulmonic stenosis, Absence of the sacrum, Car... OMIM:306955
Microphthalmia/Coloboma 5
Orofacial cleft, Bilateral microphthalmos, Microphthalmia, Anophthalmia, Holoprosencephaly, Chori... OMIM:611638
Acrodysostosis 1 With Or Without Hormone Resistance
Decreased growth hormone responses to growth hormone-releasing hormone challenge, Dislocated radi... OMIM:101800
Schimke Immuno-Osseous Dysplasia
Multiple lentigines, Hypermelanotic macule, Hyperlipidemia, Microdontia, Bone marrow hypocellular... ORPHA:1830
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Dense calvaria, Hyperactivity, Asymmetric septal hypertrophy, Joint stiffness, Hear... OMIM:252920
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Scoliosis, Cone/cone-rod dystrophy, Splenomegaly, Platyspondyly, Retinal degenerat... OMIM:602271
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology, Cholelithiasis, Hydrocephalus, Hyperbilirubinemia, Decreased b... OMIM:614886
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hyperuricemia,... OMIM:232220
Immunodeficiency 23
Increased circulating IgG level, Increased circulating IgE level, Failure to thrive, Increased ci... OMIM:615816
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Thick lower lip vermilion, Hypospadias, Hyperactivity, Emotional lability, Mandibular prognathia,... OMIM:300354
Gaucher Disease, Perinatal Lethal
Retrognathia, Everted upper lip vermilion, Microtia, Ascites, Everted lower lip vermilion, Microc... OMIM:608013
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Short nose, Hypoplastic female external genitalia, Hydrocephalus, Scoliosis, Micrognathia, Ulnar ... OMIM:618577
Ataxia-Telangiectasia
Spasticity, Tremor, Abnormal testis morphology, Multiple cafe-au-lait spots, Gait disturbance, Fa... ORPHA:100
Eosinophilic Gastroenteritis
Eosinophilia, Anemia, Leukocytosis, Weight loss ORPHA:2070
Cardiofaciocutaneous Syndrome 1
Multiple lentigines, Oculomotor apraxia, Pulmonic stenosis, Delayed skeletal maturation, Splenome... OMIM:115150
Thrombocytopenia-Absent Radius Syndrome
Abnormality of the kidney, Fused cervical vertebrae, Low-set, posteriorly rotated ears, Abnormal ... ORPHA:3320
Hsd10 Disease, Infantile Type
Spastic tetraparesis, Microcephaly, Hyperammonemia, Dysphagia, Cardiomegaly, Abnormal concentrati... ORPHA:391428
B4Galt1-Cdg
Hepatomegaly, Small for gestational age, Hydrocephalus, Dandy-Walker malformation, Low-set ears, ... ORPHA:79332
Basal Cell Nevus Syndrome 1
Kyphoscoliosis, Microphthalmia, Cardiac rhabdomyoma, Odontogenic keratocysts of the jaw, Vertebra... OMIM:109400
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Increased circulating IgG level, Increased circulating IgE level, Cutaneous abscess, Eosinophilia... OMIM:243700
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Hepatomegaly, Megaloblastic anemia, Carious teeth, Aphthous ulcer, Thromboc... OMIM:620603
Treacher-Collins Syndrome
Retrognathia, Microphthalmia, Hypoplasia of penis, Microtia, Thyroid hypoplasia, Glossoptosis, To... ORPHA:861
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Inability to walk, Retinal dystrophy, Hydrocephalus, Cardiomyopathy, Elevated cir... OMIM:613155
Immunodeficiency 54
Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Hyperpigmentation of the skin,... OMIM:609981
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... ORPHA:486
Immunodeficiency 8 With Lymphoproliferation
Attention deficit hyperactivity disorder, Recurrent otitis media, Lymphopenia OMIM:615401
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the kidney, Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circul... ORPHA:54251
Coffin-Lowry Syndrome
Abnormal form of the vertebral bodies, Sensorineural hearing impairment, Everted lower lip vermil... ORPHA:192
Pineocytoma
Hydrocephalus, Episodic ataxia, Difficulty walking, Increased CSF protein concentration ORPHA:251912
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal renal morphology, Hypoproteinemia, Ascites, Splenomegaly, Ventriculomegaly, Alveolar rid... ORPHA:1655
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Hepatomega... OMIM:607616
Late-Infantile/Juvenile Krabbe Disease
Tetraplegia, Ataxia, Clumsiness, Hemiplegia, Irritability, Decreased nerve conduction velocity, D... ORPHA:206443
Desmosterolosis
Retrognathia, Renal hypoplasia/aplasia, Abnormal earlobe morphology, Microcephaly, Rigidity, Bifi... ORPHA:35107
Hemochromatosis, Type 3
Cirrhosis, Anemia, Hyperpigmentation of the skin, Arthritis, Cardiomyopathy, Increased circulatin... OMIM:604250
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Large for gestational age, Enlarged kidney, Sacral dimple, Kyphosis, Micrognathia, Nephroblastoma OMIM:618272
Myhre Syndrome
Microphthalmia, Microtia, Joint stiffness, Microcephaly, Aortic valve stenosis, Ataxia, Short phi... OMIM:139210
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Decreased circ... OMIM:615952
Lujan-Fryns Syndrome
Protruding ear, Short philtrum, Dental crowding, Scoliosis, Low-set ears, Abnormality of the dent... ORPHA:776
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Mulibrey Nanism
Hepatomegaly, Absent frontal sinuses, Dental crowding, Hypodontia, Ascites, Hypoplastic frontal s... OMIM:253250
Holoprosencephaly 9
Microphthalmia, Solitary median maxillary central incisor, Optic nerve hypoplasia, Bilateral clef... OMIM:610829
Aicardi Syndrome
Microphthalmia, Microcephaly, Ventriculomegaly, EEG abnormality, Optic atrophy, Butterfly vertebr... ORPHA:50
Omenn Syndrome
Anemia, Abnormal lymphocyte morphology, Leukocytosis, Failure to thrive, Splenomegaly, Eosinophilia ORPHA:39041
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal vertebral morphology, Abnormal nerve conduction velocity, Abnormality of t... ORPHA:93476
Cowden Syndrome 1
Angioid streaks of the fundus, Scoliosis, High palate, Furrowed tongue, Kyphosis, Intention tremo... OMIM:158350
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Hyperpigmentation of the skin, Cardiomyopathy, Increased circula... OMIM:613313
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Anorexia, Isothenuria, Hypokalemia, Distal renal tubular acidosis, Reticulocytosis, Fail... OMIM:611590
Fibular Hemimelia
Abnormal bone ossification, Limited knee flexion/extension, Hip subluxation, Genu valgum, Difficu... ORPHA:93323
Multiple Pterygium Syndrome, X-Linked
Hypoplastic heart, Multiple pterygia, Joint dislocation, Low-set ears, Cleft upper lip, Micrognat... OMIM:312150
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Abnormal earlobe morphology, Accelerated skeletal maturati... ORPHA:116
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Spasticity, High palate, Multiple cafe-au-lait spots, Hypoplasia of the maxilla, Camptodactyly of... ORPHA:85279
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... OMIM:619126
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Anorexia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Weight loss ORPHA:86893
Ravine Syndrome
Anorexia, Spasticity, Decreased body weight, Abnormal auditory evoked potentials, Failure to thri... ORPHA:99852
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Increased bone mineral density, Bone pain, Arthritis, Leuk... ORPHA:37748
Stickler Syndrome Type 1
Short nose, Long philtrum, Abnormal vitreous humor morphology, Retinal detachment, Abnormal verte... ORPHA:90653
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
Williams-Beuren Region Duplication Syndrome
Chronic otitis media, Decreased response to growth hormone stimulation test, Unilateral renal age... OMIM:609757
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent otitis media, B lymphocytopenia, T lymphocytopenia, Sinusitis, Failure to thrive, Absen... ORPHA:277
Spondyloenchondrodysplasia With Immune Dysregulation
Kyphoscoliosis, Hypermelanotic macule, Tubulointerstitial fibrosis, T lymphocytopenia, Recurrent ... OMIM:607944
Aggressive Systemic Mastocytosis
Anorexia, Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Pancytopenia, Osteol... ORPHA:98850
Neuroleptic Malignant Syndrome
Urinary incontinence, Oculogyric crisis, Myoglobinuria, Chorea, Extrapyramidal muscular rigidity,... ORPHA:94093
Ethanolaminosis
Cardiomegaly OMIM:227150
Multiple Pterygium Syndrome, Lethal Type
Hypoplastic heart, Akinesia, Multiple pterygia, Joint dislocation, Low-set ears, Micrognathia, Cl... OMIM:253290
Rhabdoid Tumor
Irritability, Renal neoplasm, Anemia, Lymphadenopathy, Hematuria, Cerebral palsy, Thrombocytopeni... ORPHA:69077
Immunodeficiency 69
Anemia, Hemophagocytosis, Thrombocytosis, Pancytopenia, Leukocytosis, Failure to thrive, Hepatosp... OMIM:618963
Hajdu-Cheney Syndrome
Decreased skull ossification, Kyphosis, Biconcave vertebral bodies, Aortic valve stenosis, Spleno... ORPHA:955
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Elevated circulating C-reactive protei... OMIM:619644
Whipple Disease
Myocarditis, Polydipsia, Anorexia, Hepatomegaly, Anemia, Mediastinal lymphadenopathy, Depression,... ORPHA:3452
Omenn Syndrome
Anemia, B lymphocytopenia, Hypoplasia of the thymus, Failure to thrive, Severe B lymphocytopenia,... OMIM:603554
2,4-Dienoyl-Coa Reductase Deficiency
Optic atrophy, Elevated circulating 2-trans,4-cis-decadienoylcarnitine concentration, Increased C... OMIM:616034
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Spondylolisthesis, Microcephaly, Craniosynostosis, Cervical spinal canal stenosis, Tarsal synosto... OMIM:178110
Microphthalmia/Coloboma 10
Microphthalmia, Chorioretinal coloboma, Anophthalmia, Optic pit OMIM:616428
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, Elevated circulating C-reactive protein concentration, Eleva... OMIM:620632
Vici Syndrome
Everted upper lip vermilion, Sensorineural hearing impairment, Cardiomyopathy, Hypopigmentation o... OMIM:242840
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Hydrocephalus, Large earlobe, Smooth philtrum, Joint hypermobility, Ventriculomeg... OMIM:602501
Hurler Syndrome
Calvarial hyperostosis, Cardiomyopathy, Kyphosis, Dermatan sulfate excretion in urine, Joint stif... OMIM:607014
Spondylocostal Dysostosis 1, Autosomal Recessive
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... OMIM:277300
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Orofacial cleft, Hepatomegaly, Genu valgum, Nephronophthisis, Oculomotor apraxia, Hydrocephalus, ... OMIM:615630
Triploidy
Abnormality of the gallbladder, Hypoplasia of penis, Decreased skull ossification, Wide mouth, Ab... ORPHA:3376
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Retrognathia, Gingival overgrowth, Tremor, Bilateral sensorineural hearing impairm... OMIM:619422
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Hypertonia, Jaundice, Hepatomegaly, Inability to walk, Spasticity, Microcephaly, At... OMIM:608885
Hyperparathyroidism, Transient Neonatal
Osteopenia, Enlarged kidney, Subperiosteal bone formation, Unilateral renal agenesis, Splenic cys... OMIM:618188
Addison Disease
Hyperkalemia, Anorexia, Normocytic anemia, Renal salt wasting, Generalized bone demineralization,... ORPHA:85138
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Failure to thrive in infancy, Hepatomegaly, Splenomegaly OMIM:619175
Proteus Syndrome
Irregular hyperpigmentation, Enlarged kidney, Abnormal form of the vertebral bodies, Cachexia, Ca... ORPHA:744
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Thin vermilion border, Renal hypoplasia/aplasia, Anemia, Hypospadias, Hypoplasia of penis, Narrow... ORPHA:1046
Lowry-Maclean Syndrome
Retrognathia, Microcephaly, Craniosynostosis, Delayed eruption of primary teeth, Hypospadias, Hyd... ORPHA:2409
Immunodeficiency, Common Variable, 2
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Abnormal T cell count, Recurrent sinusitis... OMIM:240500
Intellectual Developmental Disorder, Autosomal Recessive 41
Retrognathia, Hepatomegaly, Mandibular prognathia, High palate, Splenomegaly, Motor stereotypy, S... OMIM:615637
Trimethylaminuria
Trimethylaminuria, Anemia, Depression, Splenomegaly, Neutropenia OMIM:602079
7Q11.23 Microduplication Syndrome
Chronic otitis media, Retrognathia, Abnormal earlobe morphology, Hyperactivity, Abnormal optic di... ORPHA:96121
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Recurrent otitis media, Thick lower lip vermilion, Widely spaced teeth, Delayed eru... OMIM:309900
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hepatomegaly, Reduced bone mineral density, Hypocalcemia, Cholestasis, Delayed skeletal... ORPHA:172
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Ascites, Splenomegaly, Ventriculomegaly, Alveolar ridge overgrowth, Hypocalcemia... OMIM:235255
Cyclic Neutropenia
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Bone pain, ... ORPHA:2686
Masa Syndrome
Lower limb spasticity, Hydrocephalus, Paraplegia, Hyperlordosis, Shuffling gait, Kyphosis, Microc... OMIM:303350
Intellectual Developmental Disorder, Autosomal Dominant 70
Retrognathia, Retinal telangiectasia, Retinal detachment, Optic nerve hypoplasia, Mandibular prog... OMIM:620157
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Chops Syndrome
Optic atrophy, Short nose, High, narrow palate, Cervical C2/C3 vertebral fusion, Tracheomalacia, ... OMIM:616368
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Elevated circulating C-react... OMIM:613011
Free Sialic Acid Storage Disease
Reduced bone mineral density, Hepatomegaly, Oculomotor apraxia, Spasticity, Athetosis, Ascites, G... ORPHA:834
Intellectual Developmental Disorder, Autosomal Recessive 48
Inability to walk, Emotional lability, Mandibular prognathia, Tremor, Waddling gait, Macrotia, In... OMIM:616269
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Tonne-Kalscheuer Syndrome
Widely spaced teeth, Hypospadias, Broad-based gait, Spasticity, Tremor, Narrow mouth, Microcephal... OMIM:300978
Immunodeficiency, Common Variable, 1
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Decreased proportion of class-switched mem... OMIM:607594
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma, Hypertonia, Hemiplegia/hemiparesis ORPHA:2807
Joubert Syndrome 21
Optic atrophy, Occipital encephalocele, Megalopapilla, Encephalocele, Anophthalmia, Oculomotor ap... OMIM:615636
Histiocytosis-Lymphadenopathy Plus Syndrome
Retrognathia, Flexion contracture of toe, Joint contracture of the 5th finger, Sensorineural hear... OMIM:602782
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Myelomeningocele, Cleft palate, Multiple renal cys... ORPHA:66637
Edinburgh Malformation Syndrome
Jaundice, Hydrocephalus, Accelerated skeletal maturation, Failure to thrive, Neonatal hyperbiliru... OMIM:129850
3C Syndrome
Hypoplasia of penis, Kyphosis, Pulmonic stenosis, Abnormal mitral valve morphology, Aortic valve ... ORPHA:7
Microphthalmia With Limb Anomalies
Microphthalmia, Abnormal form of the vertebral bodies, Hypoplasia of the premaxilla, Long philtru... ORPHA:1106
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hyperactivity, Bifid scrotum, Hypopigmentation of the skin, Kyphosis, Impulsivity, Microcephaly, ... OMIM:619475
Farber Lipogranulomatosis
Irritability, Lipogranulomatosis, Hepatomegaly, Limitation of knee mobility, Osteolytic defects o... OMIM:228000
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Long philtrum, Cervical C2/C3 vertebral fusion, Cardiomyopathy, Low-set ears, Everted lower lip v... OMIM:616549
Mohr-Tranebjaerg Syndrome
Prelingual sensorineural hearing impairment, Sensorineural hearing impairment, Attention deficit ... ORPHA:52368
Chediak-Higashi Syndrome
Hypopigmentation of the skin, Leukopenia, Splenomegaly, Ataxia, Giant neutrophil granules, Neutro... OMIM:214500
Laryngeal Neuroendocrine Tumor
Anorexia, Adrenocorticotropic hormone excess, Oral-pharyngeal dysphagia, Elevated circulating car... ORPHA:100083
Williams Syndrome
Chronic otitis media, Everted lower lip vermilion, Wide mouth, Joint hypermobility, Patellar disl... ORPHA:904
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Progressive microcephaly, Scol... ORPHA:521406
Dyskeratosis Congenita
Hypermelanotic macule, Neoplasm of the pancreas, Bone marrow hypocellularity, Splenomegaly, Ureth... ORPHA:1775
Classic Hodgkin Lymphoma
Anorexia, Hepatomegaly, Lymphadenopathy, Bone pain, Bone marrow hypocellularity, Ataxia, Splenome... ORPHA:391
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Pancytopenia, Recurrent sinusitis, Splenomegaly, Generalized lymphadenopath... OMIM:620282
Multiple Pterygium Syndrome, Escobar Variant
Dislocated radial head, Kyphosis, Long philtrum, Hip dislocation, Absence of labia majora, Axilla... OMIM:265000
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Progressive microcephaly, Thoracic kyphoscoliosis, Increased laxity of ankles, Wrist hypermobilit... ORPHA:481152
Fg Syndrome Type 1
Small pituitary gland, Optic nerve hypoplasia, Sensorineural hearing impairment, Microtia, Dental... ORPHA:93932
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Sacral dimple, Abnormal oral cavity morphology, Short philtrum, Hydrocephalus, Low-set ears, Shor... ORPHA:1516
Classic Mycosis Fungoides
Irregular hyperpigmentation, Hypopigmented skin patches, Hepatomegaly, Lymphadenopathy, Abnormal ... ORPHA:2584
Keratoconus Posticus Circumscriptus
Recurrent urinary tract infections, Limited elbow extension and supination, Vesicoureteral reflux... OMIM:244600
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Long nose, Kyphosis, T lymphocytopenia, Microcephaly, Delayed skeletal ma... ORPHA:508533
Igg4-Related Kidney Disease
Enlarged kidney, Sclerosing cholangitis, Pericarditis, Elevated circulating creatinine concentrat... ORPHA:449395
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Widely spaced teeth, Intervertebral space narrowing, Scoliosis, Mandibul... OMIM:601216
Multicentric Carpotarsal Osteolysis Syndrome
Ankle swelling, Wrist swelling, Metacarpal osteolysis, Osteopenia, Carpal osteolysis, Inability t... OMIM:166300
Mosaic Variegated Aneuploidy Syndrome 1
Tetraplegia, Bifid scrotum, Microcephaly, Pulmonic stenosis, Long philtrum, Ventriculomegaly, Hyp... OMIM:257300
Pontocerebellar Hypoplasia, Type 7
Oculomotor apraxia, Progressive microcephaly, Tongue fasciculations, Hypopigmentation of the skin... OMIM:614969
Martsolf Syndrome 1
Microphthalmia, Cardiomyopathy, Microcephaly, Joint hypermobility, Ventriculomegaly, Long philtru... OMIM:212720
Galactosemia Iii
Jaundice, Hepatomegaly, Galactosuria, Sensorineural hearing impairment, Hypergalactosemia, Failur... OMIM:230350
Microphthalmia, Syndromic 3
Butterfly vertebrae, Microphthalmia, Hypospadias, Anophthalmia, Optic nerve hypoplasia, Anterior ... OMIM:206900
Alpha-Heavy Chain Disease