Gene Summary

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

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
increased NK T cell number Spred1em1(IMPC)Ccpcz HOM Early adult 3.16×10-12
decreased lymphocyte cell number Spred1em1(IMPC)Ccpcz HOM Early adult 8.54×10-08
decreased grip strength Spred1em1(IMPC)Ccpcz HOM   Early adult 3.74×10-05
increased spleen weight Spred1em1(IMPC)Ccpcz HOM Early adult 1.38×10-23
increased circulating aspartate transaminase level Spred1em1(IMPC)Ccpcz HOM Early adult 1.08×10-09
abnormal maxilla morphology Spred1em1(IMPC)Ccpcz HOM Early adult 5.37×10-14
abnormal mandible morphology Spred1em1(IMPC)Ccpcz HOM Early adult 2.77×10-08
abnormal snout morphology Spred1em1(IMPC)Ccpcz HOM Early adult 1.35×10-06
abnormal vertebral arch morphology Spred1em1(IMPC)Ccpcz HOM Early adult 3.17×10-05
tremors Spred1em1(IMPC)Ccpcz HOM Early adult 1.32×10-10
fusion of vertebral arches Spred1em1(IMPC)Ccpcz HOM Early adult 3.48×10-06
abnormal digit morphology Spred1em1(IMPC)Ccpcz HOM Early adult 3.29×10-07
increased neutrophil cell number Spred1em1(IMPC)Ccpcz HOM   Early adult 1.07×10-10
abnormal auditory brainstem response Spred1em1(IMPC)Ccpcz HOM   Early adult 4.20×10-12
increased freezing behavior Spred1em1(IMPC)Ccpcz HOM Early adult 2.20×10-17
increased CD4-positive NK T cell number Spred1em1(IMPC)Ccpcz HOM Early adult 5.91×10-12
abnormal tooth morphology Spred1em1(IMPC)Ccpcz HOM Early adult 6.14×10-15
vertebral fusion Spred1em1(IMPC)Ccpcz HOM Early adult 5.11×10-05
increased effector memory T-helper cell number Spred1em1(IMPC)Ccpcz HOM Early adult 3.27×10-06
aorta stenosis Spred1em1(IMPC)Ccpcz HOM   Early adult 5.56×10-05
abnormal zygomatic bone morphology Spred1em1(IMPC)Ccpcz HOM Early adult 1.10×10-16
abnormal cranium morphology Spred1em1(IMPC)Ccpcz HOM Early adult 2.72×10-11
abnormal vertebrae morphology Spred1em1(IMPC)Ccpcz HOM Early adult 3.49×10-05
abnormal head size Spred1em1(IMPC)Ccpcz HOM Early adult 4.35×10-20
abnormal startle reflex Spred1em1(IMPC)Ccpcz HOM Early adult 8.35×10-05
increased effector memory CD8-positive, alpha-beta T cell number Spred1em1(IMPC)Ccpcz HOM   Early adult 4.15×10-05
decreased body weight Spred1em1(IMPC)Ccpcz HOM   Early adult 6.81×10-05
decreased circulating alkaline phosphatase level Spred1em1(IMPC)Ccpcz HOM Early adult 4.64×10-21
increased fasting circulating glucose level Spred1em1(IMPC)Ccpcz HOM Early adult 9.47×10-05
increased memory-marker CD4-positive NK T cell number Spred1em1(IMPC)Ccpcz HOM Early adult 7.31×10-12
increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number Spred1em1(IMPC)Ccpcz HOM   Early adult 8.66×10-06
abnormal skin coloration Spred1em1(IMPC)Ccpcz HOM Early adult 4.23×10-09
abnormal head morphology Spred1em1(IMPC)Ccpcz HOM Early adult 5.23×10-19

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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 Dorso Ventral

42 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

21 Images

X-ray

XRay Images Skull Lateral Orientation

21 Images

X-ray

XRay Images Hind Leg and Hip

42 Images

X-ray

XRay Images Forepaw

21 Images

X-ray

XRay Images Whole Body Lateral Orientation

21 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.

Disease Similarity of
phenotypes
Matching phenotypes Source
Legius Syndrome
Short neck, Low-set, posteriorly rotated ears, Cafe-au-lait spot, High palate, High, narrow palat... OMIM:611431

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Emotional lability, Anxiety, Cognitive impai... ORPHA:280397
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Acute Myelomonocytic Leukemia
Dyspnea, Leukocytosis, Weight loss, Thrombocytopenia, Anemia, Eosinophilia ORPHA:517
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Immunodeficiency 11B With Atopic Dermatitis
Asthma, Pneumonia, Eosinophilia OMIM:617638
Ichthyosis-Prematurity Syndrome
Neonatal respiratory distress, Eosinophilia ORPHA:88621
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
T-Cell Receptor-Alpha/Beta Deficiency
Hypereosinophilia, Failure to thrive OMIM:615387
Macrosomia Adiposa Congenita
Large for gestational age, Eosinophilia, Obesity OMIM:248100
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Dementia, Apathy, Frontotemporal dementia, Bradykinesia, Motor deterioration, Falls, Anx... ORPHA:412066
Cutaneous Mastocytoma
Cutaneous mastocytosis ORPHA:79455
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Abnormal mast cell morphology, Mastocytosis, Splenomegaly ORPHA:98848
Juvenile Temporal Arteritis
Leukocytosis, Allergic rhinitis, Eosinophilia ORPHA:26137
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Otopalatodigital Syndrome Type 1
Short hallux, Oligodontia, Abnormality of the tarsal bones, Synostosis of carpal bones, Elbow dis... ORPHA:90650
Developmental And Speech Delay Due To Sox5 Deficiency
Scoliosis, Hyperplasia of the maxilla, Narrow palate, Thoracic kyphoscoliosis, Aggressive behavio... ORPHA:313892
Brachydactyly, Type B1
Hypoplastic sacrum, Broad thumb, Short middle phalanx of finger, Camptodactyly, Aplasia/Hypoplasi... OMIM:113000
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Depression, Chorea, Ataxia, Anxiety, Inappropriate behavior, Cognitive impairment, Memo... ORPHA:401901
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign, Elevated ci... OMIM:160120
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Mental deterioration, Attention defic... OMIM:619191
Aarskog-Scott Syndrome
Oral cleft, Short neck, Hypoplasia of the maxilla, Long philtrum, Genu recurvatum, Joint hyperfle... ORPHA:915
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Immunodeficiency 25
T lymphocytopenia, Recurrent pneumonia, Increased circulating IgM level, Increased circulating Ig... OMIM:610163
Halothane Hepatitis
Eosinophilia, Obesity OMIM:234350
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Accelerated skeletal maturation, Carious teeth, Small epiphyses, High palate, Advanced... OMIM:618363
Dextrocardia With Unusual Facies And Microphthalmia
Choreoathetosis, Macrotia, Vertebral fusion, Cleft palate, Micrognathia, Vertebral segmentation d... OMIM:221950
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Weight loss, Respiratory insufficiency, Asthma, Pulmonary arter... ORPHA:1164
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Tarsal synostosis, Mandibular prognathia, Hemivertebrae, Hypoplastic vertebral... OMIM:263540
Idiopathic Acute Eosinophilic Pneumonia
Restrictive ventilatory defect, Cough, Respiratory insufficiency, Abnormal pattern of respiration... ORPHA:724
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Candidiasis, Familial, 2
Hypereosinophilia, Increased circulating IgE level OMIM:212050
Kbg Syndrome
Scoliosis, Long philtrum, Oligodontia, Widely-spaced maxillary central incisors, Macrotia, Finger... ORPHA:2332
Gorlin Syndrome
Scoliosis, Carious teeth, Palmar pits, Mandibular prognathia, Melanocytic nevus, Hemivertebrae, V... ORPHA:377
Huntington Disease-Like 1
Aggressive behavior, Dementia, Depression, Chorea, Unsteady gait, Anxiety, Dysmetria OMIM:603218
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Macroglossia, Kyphosis, Achilles tendon contracture, Vertebral fusion, ... OMIM:606612
Arthrogryposis, Distal, Type 2A
Scoliosis, Pursed lips, Restricted neck movement due to contractures, Narrow mouth, Dental crowdi... OMIM:193700
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Failure to thrive secondary to recurrent infections, Increased circulating antibody level, Decrea... ORPHA:169160
Temtamy Preaxial Brachydactyly Syndrome
Oligodontia, Tarsal synostosis, Narrow mouth, Partial duplication of the proximal phalanx of the ... ORPHA:363417
Cohen Syndrome
Joint hypermobility, Short metatarsal, Open mouth, Neutropenia, Small for gestational age, Leukop... OMIM:216550
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Abnormal dental enamel morphology, Abnormality of the antihelix, Postaxial hand polyda... ORPHA:2916
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, Scoliosis, Oligodontia, Short metatarsal, Joint laxity, Short phalanx of finge... OMIM:170390
Verheij Syndrome
Scoliosis, Long philtrum, Short nose, Hemivertebrae, Vertebral fusion, Wide nasal bridge, Thin up... OMIM:615583
Immunodeficiency 8
Lymphopenia OMIM:615401
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Multiple small vertebral fractures, Platyspondyly, Short philtrum, Thin vermilion border, Short m... OMIM:156510
Huntington Disease-Like 2
Dystonia, Dementia, Depression, Apathy, Chorea, Bradykinesia, Irritability, Anxiety OMIM:606438
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Immunodeficiency 40
Lymphopenia OMIM:616433
Ring Chromosome 21 Syndrome
Scoliosis, Narrow palm, Fused thoracic vertebrae, Thoracic hemivertebrae, Clinodactyly, Syndactyl... ORPHA:1445
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Asthma, Eosinophilia OMIM:243700
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia ORPHA:157991
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... OMIM:102700
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Basal Ganglia Calcification, Idiopathic, 5
Dementia, Depression, Apathy, Chorea, Anxiety, Cognitive impairment, Athetosis OMIM:615483
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Decreased proportion of CD... ORPHA:331206
Esophagitis, Eosinophilic, 2
Failure to thrive, Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Failure to thrive, Eosinophilia OMIM:610247
Cohen Syndrome
Scoliosis, Abnormality of skin pigmentation, Open mouth, Aplasia/Hypoplasia of the tongue, Neutro... ORPHA:193
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Broad thumb, Sensorineural hearing impairment, Absent radius, Phocomelia, Micrognathia... ORPHA:3320
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Metaphyseal chondrodysplasia, Babinski sign, Malar flattening OMIM:300660
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hyperlordosis, Tremor, Arterial stenosis, Hypertonia, Coronary artery atherosclerosis, Sensorineu... ORPHA:1192
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Moderate hearing impairment, Short 3rd metacarpal, Overweight, Broad thumb, Short toe, Short 5th ... ORPHA:370010
Eosinophilopenia
Decreased eosinophil count, Allergic rhinitis OMIM:131430
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Abnormal form of the vertebral bodies, Craniofacial hyperostosis... ORPHA:1802
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Microcephaly, Spinal instability OMIM:251250
Carpenter Syndrome 1
Scoliosis, Lambdoidal craniosynostosis, Flared iliac wing, Camptodactyly, Patent ductus arteriosu... OMIM:201000
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280785
Immunodeficiency 19
Lymphopenia, Failure to thrive OMIM:615617
Frontometaphyseal Dysplasia 1
Scoliosis, Partial fusion of carpals, Sensorineural hearing impairment, Wrist flexion contracture... OMIM:305620
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Scoliosis, Tremor, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction ... OMIM:218000
Maxillonasal Dysplasia
Scoliosis, Open bite, Short nose, Hypoplasia of the maxilla, Mandibular prognathia, Tooth agenesi... ORPHA:1248
Metaphyseal Chondrodysplasia, Spahr Type
Scoliosis, Hyperlordosis, Carious teeth, Hip dysplasia, Metaphyseal chondrodysplasia, Abnormality... ORPHA:2501
Omenn Syndrome
Severe B lymphocytopenia, Pneumonia, Thrombocytopenia, Hypoplasia of the thymus, B lymphocytopeni... OMIM:603554
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Lymphopenia, Decreased CD4:CD8 ratio,... OMIM:615897
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Congenital Disorder Of Glycosylation, Type Ie
Tremor, Upper limb undergrowth, Camptodactyly, Short palm, Patent ductus arteriosus, Elevated cir... OMIM:608799
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Short neck, Abnormality of dental morphology, Kyphosis, Abnormal hip bone morpholo... ORPHA:2522
Charcot-Marie-Tooth Disease, Type 4B1
Scoliosis, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial... OMIM:601382
Netherton Syndrome
Allergic rhinitis, Increased circulating IgE level, Hypereosinophilia, Asthma, Failure to thrive,... OMIM:256500
Aspergillosis
Abnormality on pulmonary function testing, Increased circulating IgE level, Dyspnea, Bronchiectas... ORPHA:1163
Alpha-Mannosidosis
Scoliosis, Open bite, Narrow palate, Mandibular prognathia, Abnormality of the helix, Type II dia... ORPHA:61
Kbg Syndrome
Long philtrum, Oligodontia, Widely-spaced maxillary central incisors, Macrotia, Thoracic kyphosis... OMIM:148050
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Hypoplastic sacrum, Bifid distal phalanx of toe, Broad thumb, Dental crowding, Triangu... OMIM:268310
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Increased circulating IgE level, Eosinophilia, Recurrent pneumonia OMIM:147060
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Sac... OMIM:618845
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Bronchiectasis, Increased circulating IgE level, Eosinophilia OMIM:618523
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Acrodysostosis
Accelerated skeletal maturation, Open bite, Epiphyseal stippling, Short metatarsal, Open mouth, M... ORPHA:950
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Atelosteogenesis, Type Iii
Scoliosis, Cervical segmentation defect, Widened distal phalanges, Radial bowing, Short neck, Elb... OMIM:108721
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Kyphoscoliosis, ... OMIM:277300
Igg4-Related Aortitis
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgG4... ORPHA:449400
Autoinflammation, Immune Dysregulation, And Eosinophilia
Failure to thrive, Hepatosplenomegaly, Asthma, Eosinophilia OMIM:618999
Isolated Klippel-Feil Syndrome
Scoliosis, Abnormal cranial nerve morphology, Abnormality of the vertebral column, Cervical C2/C3... ORPHA:2345
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Weight loss, Eosinophilia ORPHA:3165
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopen... ORPHA:98850
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Scoliosis, Patent ductus arteriosus, Sensorineural hearing impairment, Anemia, Abnormality of the... ORPHA:2637
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Scoliosis, Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality... OMIM:617519
Pycnodysostosis
Scoliosis, Wormian bones, Delayed eruption of primary teeth, Carious teeth, Osteolytic defects of... OMIM:265800
Pde4D Haploinsufficiency Syndrome
Accelerated skeletal maturation, Abnormal dental enamel morphology, Short metatarsal, Joint laxit... ORPHA:439822
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Scoliosis, Joint laxity, Abnormality of the elbow, Increased susceptibility to fractures, Abnorma... ORPHA:93359
Otopalatodigital Syndrome Type 2
Scoliosis, Oligodontia, Tarsal synostosis, Narrow mouth, Elbow dislocation, Flared iliac wing, Hy... ORPHA:90652
Syndromic X-Linked Intellectual Disability Due To Jarid1C Mutation
Camptodactyly of finger, Talipes equinovarus, Aggressive behavior, Hypoplasia of the maxilla, Cli... ORPHA:85279
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Scoliosis, Multiple pterygia, Arthrogryposis multiplex congenita, Craniosynostosis, Tarsal synost... OMIM:178110
Spondylocarpotarsal Synostosis Syndrome
Enamel hypoplasia, Scoliosis, Tarsal synostosis, C2-C3 subluxation, Sensorineural hearing impairm... OMIM:272460
Cardiospondylocarpofacial Syndrome
Scoliosis, Long philtrum, Freckling, Tarsal synostosis, Joint laxity, Conductive hearing impairme... OMIM:157800
Myhre Syndrome
Narrow mouth, Mandibular prognathia, Camptodactyly, Patent ductus arteriosus, Small for gestation... OMIM:139210
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Anemia, Phocomelia, Micrognathia, E... OMIM:274000
Progressive Supranuclear Palsy
Memory impairment, Dystonia, Dementia, Depression, Blepharospasm, Bradykinesia, Unsteady gait, Im... ORPHA:683
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Asthma, Eosinophilia OMIM:618092
Keratoconus Posticus Circumscriptus
Cleft palate, Clinodactyly of the 5th finger, Limited elbow extension and supination, Cleft upper... OMIM:244600
Lamb-Shaffer Syndrome
Scoliosis, Hip dysplasia, Thoracic kyphosis, Thick vermilion border, Ataxia, Stereotypy, Upper mo... ORPHA:530983
Pyle Disease
Scoliosis, Delayed eruption of teeth, Carious teeth, Platyspondyly, Limited elbow extension, Genu... OMIM:265900
Koolen-De Vries Syndrome
Scoliosis, Abnormal dental enamel morphology, Narrow palate, Overfolded helix, Joint hyperflexibi... ORPHA:96169
Cleidocranial Dysplasia
Scoliosis, Wormian bones, Carious teeth, Abnormal dental enamel morphology, Open bite, Mandibular... ORPHA:1452
Pgm3-Cdg
Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Neutropen... ORPHA:443811
Eosinophilic Gastroenteritis
Allergic rhinitis, Leukocytosis, Weight loss, Asthma, Anemia, Eosinophilia ORPHA:2070
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal ilium morphology, Craniosynostosis, Narrow mouth, Open mouth, Short phalanx of finger, D... ORPHA:508533
Greenberg Dysplasia
Epiphyseal stippling, Short phalanx of finger, Sandal gap, Abnormal pelvis bone ossification, Uln... OMIM:215140
Ravine Syndrome
Ataxia, Decreased body weight, Abnormal auditory evoked potentials, Failure to thrive, Spasticity ORPHA:99852
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Carious teeth, Melanocytic nevus, Flexion contracture, Hypodontia, Ulnar deviation of the hand, H... OMIM:612079
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, N... OMIM:304790
Koolen-De Vries Syndrome
Scoliosis, Joint hypermobility, Narrow palate, Open mouth, Overfolded helix, Patent ductus arteri... OMIM:610443
Cockayne Syndrome Type 1
Enamel hypoplasia, Scoliosis, Mandibular prognathia, Anemia, Widely spaced primary teeth, Abnorma... ORPHA:90321
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Short finger, Flexion contracture, Vertebral fusion, Abnormal cervical curvatu... OMIM:312150
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Flexion contracture, Ataxia, Babinski sign, Spasticity OMIM:611105
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Overfolded helix, Thoracic kyphosis, Hypertonia, Ataxia, Clinodactyly, Synda... OMIM:619092
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Bronchiectasis, Eosinophilia OMIM:618282
48,Xxyy Syndrome
Scoliosis, Open bite, Abnormal dental enamel morphology, Carious teeth, Elbow dislocation, Broad ... ORPHA:10
Multiple Synostoses Syndrome 2
Humeroradial synostosis, Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symp... OMIM:610017
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Failure to thrive secondary to recurrent infections, Oral ulcer, Hepatomegaly,... OMIM:608971
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Ovoid vertebral bodies, Decreased proportion of naive C... ORPHA:1830
Albers-Schönberg Osteopetrosis
Hypocalcemia, Carious teeth, Bone pain, Generalized osteosclerosis, Abnormality of the metacarpal... ORPHA:53
Spinal Muscular Atrophy, Jokela Type
Elevated circulating creatine kinase concentration, Fasciculations, Tremor, Hammertoe OMIM:615048
Hereditary Folate Malabsorption
Megaloblastic anemia, Decreased circulating antibody level, Pancytopenia, Thrombocytopenia, Failu... ORPHA:90045
Gabriele-De Vries Syndrome
Tremor, Joint laxity, Abnormality of the pinna, Abnormality of the dentition, Posteriorly rotated... OMIM:617557
Roifman Syndrome
Decreased circulating antibody level, Hepatosplenomegaly, Eosinophilia, Recurrent pneumonia ORPHA:353298
Intellectual Developmental Disorder, X-Linked 104
Tremor, Aggressive behavior, Abnormality of the pinna, Ataxia, Wide nasal bridge, High palate, Re... OMIM:300983
Dental Anomalies And Short Stature
Platyspondyly, Amelogenesis imperfecta, Oligodontia, Widely spaced teeth, Mandibular prognathia, ... OMIM:601216
Fibrodysplasia Ossificans Progressiva
Short hallux, Abnormal vertebral morphology, Synostosis of joints, Ectopic ossification in muscle... ORPHA:337
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Frontonasal Dysplasia 1
Pectoral muscle hypoplasia/aplasia, Postaxial hand polydactyly, Conductive hearing impairment, Hy... OMIM:136760
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Short proximal phalanx of thumb, Short middle phalanx of finger, Short proxima... OMIM:251190
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
Kniest Dysplasia
Joint stiffness, Delayed epiphyseal ossification, Short neck, Vertebral wedging, Flexion contract... ORPHA:485
Immunodeficiency 23
Increased circulating IgM level, Increased circulating IgE level, Hemolytic anemia, Bronchiectasi... OMIM:615816
Lateral Meningocele Syndrome
Scoliosis, Joint hypermobility, Wormian bones, Abnormality of the middle ear ossicles, Short neck... OMIM:130720
Spondylocostal Dysostosis 4, Autosomal Recessive
Hemivertebrae, Vertebral fusion, Unilateral vertebral artery hypoplasia, Abnormality of the odont... OMIM:613686
Acrocraniofacial Dysostosis
Short philtrum, Craniosynostosis, Abnormality of the vertebral column, Conductive hearing impairm... OMIM:201050
Regional Odontodysplasia
Enamel hypoplasia, Abnormal dental enamel morphology, Carious teeth, Pulp calcification, Hypoplas... ORPHA:83450
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Tremor, Short neck, Drooling, Macrotia, Excessive salivation, Microcephaly, Abnormality of the de... OMIM:300055
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Inertia, Depression, Violent behavior, Chorea, Abnormal pyramidal sign, Tongu... ORPHA:216873
Stickler Syndrome Type 1
Platyspondyly, Long philtrum, Abnormality of vertebral epiphysis morphology, Short nose, Abnormal... ORPHA:90653
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Scoliosis, Tremor, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction ... OMIM:609260
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Macroglossia, Kyphosis, Achilles tendon contracture, Vertebral fusion, ... OMIM:607155
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Long philtrum, Micrognathia, Everted lower lip vermilion, Flexion contracture, Cervical C2/C3 ver... OMIM:616549
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Long philtrum, Short 2nd metacarpal, Radioulnar synostosis, Elbow dislo... OMIM:171480
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Conductive hearing impairment, Short 1st metacarpal, Neutropenia, Decre... OMIM:609053
Coffin-Lowry Syndrome
Scoliosis, Narrow palate, Open mouth, Hypertonia, Short distal phalanx of finger, Sensorineural h... ORPHA:192
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Carious teeth, Craniosynostosis, Femur fracture, Increased bone mineral density, Pa... OMIM:259700
Distal Xq28 Microduplication Syndrome
Absent antihelix, Aggressive behavior, Open mouth, Dental crowding, Thick lower lip vermilion, De... ORPHA:293939
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Short finger, Flexion contracture, Vertebral fusion, Abnormal cervical curvatu... OMIM:253290
Dysostosis, Stanescu Type
Scoliosis, Wormian bones, Carious teeth, Abnormal dental enamel morphology, Massively thickened l... ORPHA:1798
Jaberi-Elahi Syndrome
Scoliosis, Joint hypermobility, Tremor, Gait ataxia, Talipes equinovarus, Short nose, Kyphosis, A... OMIM:617988
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Scoliosis, Thin vermilion border, Aggressive behavior, Macrotia, Lymphopenia, 2-3 toe syndactyly,... ORPHA:391307
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender build, Genu valgum, Cubitus valgus, Slender long bones with narrow diaphyses, Metaphyseal... OMIM:608154
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Scoliosis, Tarsal synostosis, Absent phalangeal crease, Flexion contracture, Fused thoracic verte... OMIM:618469
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Increased circulating IgG level, Hy... OMIM:617388
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteolysis, Joint swelling, Stomatitis, Failure to thrive in infancy, Fused cervical vertebrae, H... OMIM:612852
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Pneumonia, Acute myeloid leukemia, Rhinitis, Apl... ORPHA:486
Wolf-Hirschhorn Syndrome
Scoliosis, Downturned corners of mouth, Split hand, Biliary tract abnormality, Oral cleft, Metata... OMIM:194190
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis OMIM:248910
Osteolysis Syndrome, Recessive
Osteolytic defects of the distal phalanges of the hand, Osteolytic defects of the middle phalange... OMIM:259610
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia, Failure to thrive, High palate, Short neck OMIM:618951
Asymmetric Short Stature Syndrome
Dental crowding, Lumbar scoliosis, Hemihypotrophy of lower limb, Micrognathia, Fused cervical ver... OMIM:108450
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed closure of the anterior fontanelle, Metatarsal osteolysis, Split hand, Interphalangeal jo... OMIM:259600
Pfeiffer Syndrome
Hyperlordosis, Hip dysplasia, Short philtrum, Broad thumb, Open mouth, Synostosis of carpal bones... ORPHA:710
Duane Retraction Syndrome
Irregular hyperpigmentation, Narrow internal auditory canal, Camptodactyly, Sensorineural hearing... ORPHA:233
Atypical Rett Syndrome
Scoliosis, Pill-rolling tremor, Tremor, Apraxia, Gait ataxia, Inappropriate laughter, Inappropria... ORPHA:3095
Simpson-Golabi-Behmel Syndrome
Scoliosis, Accelerated skeletal maturation, Broad thumb, Congenital hip dislocation, Mandibular p... ORPHA:373
Acrofacial Dysostosis, Catania Type
Carious teeth, Short nose, Finger syndactyly, Microretrognathia, Low-set, posteriorly rotated ear... ORPHA:1786
Osteopetrosis With Renal Tubular Acidosis
Genu valgum, Carious teeth, Abnormality of dental morphology, Abnormality of epiphysis morphology... ORPHA:2785
Intermediate Osteopetrosis
Cortical sclerosis, Erlenmeyer flask deformity of the femurs, Abnormality of dental morphology, S... ORPHA:210110
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Mandibular prognathia, Kyphosis, High palate, Arachnodactyly, Hypoplasia of the maxilla OMIM:300676
Omenn Syndrome
Leukocytosis, Abnormal lymphocyte morphology, Pneumonia, Anemia, Splenomegaly, Failure to thrive,... ORPHA:39041
Mosaic Trisomy 20
Scoliosis, Depigmentation/hyperpigmentation of skin, Kyphosis, Down-sloping shoulders, Craniofaci... ORPHA:1724
Roifman Syndrome
Long philtrum, Short toe, Biconvex vertebral bodies, Downturned corners of mouth, Irregular verte... OMIM:616651
Fibrodysplasia Ossificans Progressiva
Scoliosis, Small cervical vertebral bodies, Short hallux, Conductive hearing impairment, Ectopic ... OMIM:135100
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Oligodontia, Narrow mouth, Downturned corners of mouth, Sensorineural hearing impairment, Small f... OMIM:616817
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Joint hypermobility, Tremor, Long philtrum, Spastic diplegia, Thin upper lip vermilion, Hearing i... ORPHA:480907
Angelman Syndrome
Scoliosis, Macroglossia, Clumsiness, Drooling, Hypoplasia of the maxilla, Progressive gait ataxia... OMIM:105830
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Type II diabetes mellitus, Bra... ORPHA:1436
Lichtenstein Syndrome
Enamel hypoplasia, Osteoporosis, Carious teeth, Downturned corners of mouth, Neutropenia, Increas... OMIM:246550
Frontometaphyseal Dysplasia
Scoliosis, Limited wrist movement, Oligodontia, Craniosynostosis, Short metatarsal, Short phalanx... ORPHA:1826
Robinow Syndrome
Scoliosis, Dental crowding, Hemivertebrae, Oral cleft, Short distal phalanx of finger, Triangular... ORPHA:97360
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Scoliosis, Glucose intolerance, Short middle phalanx of finger, Wide nasal bridge, Thoracic hemiv... OMIM:309620
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebr... ORPHA:2064
Brachytelephalangic Chondrodysplasia Punctata
Epiphyseal stippling, Short distal phalanx of toe, Patent ductus arteriosus, Short distal phalanx... ORPHA:79345
Multicentric Carpotarsal Osteolysis Syndrome
Metatarsal osteolysis, Metacarpal osteolysis, Ulnar deviation of the hand, Carpal osteolysis, Ank... OMIM:166300
Aredyld Syndrome
Scoliosis, Abnormal dental enamel morphology, Narrow mouth, Craniofacial hyperostosis, Low-set, p... ORPHA:1133
Atelosteogenesis, Type I
Short metatarsal, Elbow dislocation, Thoracic platyspondyly, Multinucleated giant chondrocytes in... OMIM:108720
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Scoliosis, Dental crowding, Hypercalcemia, High palate, Micrognathia, Long philtrum, Aggressive b... ORPHA:476126
Wells Syndrome
Eosinophilia ORPHA:901
Acrodysostosis 1 With Or Without Hormone Resistance
Scoliosis, Accelerated skeletal maturation, Epiphyseal stippling, Short metatarsal, Short phalanx... OMIM:101800
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Joint hypermobility, Thin vermilion border, Broad thumb, Overfolded helix, High palate, Spasticit... ORPHA:481152
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Cervical hemivertebrae, Broad thumb, Thoracic kyphosis, Mandibular prognathia, Hypermobility of i... ORPHA:508498
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hemipare... ORPHA:444463
Aarskog-Scott Syndrome
Scoliosis, Joint laxity, Cervical spine hypermobility, Broad philtrum, Short neck, Hypoplasia of ... OMIM:305400
Pycnodysostosis
Wormian bones, Narrow palate, Persistent open anterior fontanelle, Bone pain, Short distal phalan... ORPHA:763
Spondyloenchondrodysplasia With Immune Dysregulation
Scoliosis, Vitiligo, Joint swelling, Metaphyseal irregularity, Progressive spastic quadriplegia, ... OMIM:607944
Trisomy 10P
Thin vermilion border, Low voltage EEG, Abnormal hip joint morphology, Camptodactyly, Hemivertebr... ORPHA:171929
Lujan-Fryns Syndrome
Scoliosis, Camptodactyly of finger, Short philtrum, Dental crowding, Joint hyperflexibility, Abno... ORPHA:776
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Lower limb hypertonia, Short distal phalanx of finger, Low frustration tol... OMIM:300534
Faciodigitogenital Syndrome, Autosomal Recessive
Hyperextensible hand joints, Narrow palate, Short nose, Broad palm, Camptodactyly, Deep philtrum,... OMIM:227330
Cockayne Syndrome B
Abnormality of skin pigmentation, Carious teeth, Hypoplasia of teeth, Square pelvis bone, Mandibu... OMIM:133540
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Microcephaly-Capillary Malformation Syndrome
Short nose, Spastic tetraparesis, Short distal phalanx of finger, Brachydactyly, Cleft palate, He... OMIM:614261
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Thin vermilion border, Tarsal synostosis, Broad thumb, Elbow disloc... ORPHA:1106
8Q22.1 Microdeletion Syndrome
Camptodactyly of finger, Abnormality of the antihelix, Craniosynostosis, Long philtrum, Finger sy... ORPHA:178303
Hajdu-Cheney Syndrome
Scoliosis, Wormian bones, Hypoplastic 5th lumbar vertebrae, Thin vermilion border, Open bite, Nar... ORPHA:955
Stiff-Person Syndrome
Vitiligo, Depression, Agoraphobia, Lumbar hyperlordosis, Opisthotonus, Exaggerated startle respon... OMIM:184850
Mohr Syndrome
Scoliosis, Wormian bones, Metaphyseal irregularity, Tongue nodules, Short palm, Lobulated tongue,... OMIM:252100
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Scoliosis, Oligodontia, Hypoplasia of teeth, Joint laxity, Narrow mouth, Downturned corners of mo... ORPHA:391408
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormality of the vertebral column, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:109120
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Hypertonia, Abnormal aortic morphology, Tooth agenesis, Protruding ear, Joint stiffness, Abnormal... ORPHA:1166
Immunodeficiency 49
Wormian bones, Short philtrum, Lymphopenia, Natal tooth, Posteriorly rotated ears, Spastic tetrap... OMIM:617237
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Metaphyseal irregularity, High palate, Conjugated hyperbilirubinemia, Hep... OMIM:269920
Sialidosis Type 1
Scoliosis, Tremor, Abnormal form of the vertebral bodies, Decreased nerve conduction velocity, Ky... ORPHA:812
Geroderma Osteodysplasticum
Osteoporosis, Wormian bones, Platyspondyly, Femoral bowing, Biconcave vertebral bodies, Beaking o... OMIM:231070
Schimke Immunoosseous Dysplasia
Platyspondyly, Thoracic kyphosis, Lymphopenia, Ovoid vertebral bodies, Arteriosclerosis, Neutrope... OMIM:242900
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Platyspondyly, Thin vermilion border, Joint laxity, Metaphyseal irregularit... OMIM:602557
Cockayne Syndrome A
Abnormality of skin pigmentation, Carious teeth, Hypoplasia of teeth, Thymic hormone decreased, S... OMIM:216400
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Gait ataxia, Macroglossia, Joint laxity, Aggressive behavior, Mandibular prognathia, Kyph... OMIM:300354
Cinca Syndrome
Leukocytosis, Hepatosplenomegaly, Eosinophilia, Anemia OMIM:607115
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Autoimm... ORPHA:911
Mental Retardation, Buenos Aires Type
Carious teeth, Cuboid-shaped thoracolumbar vertebral bodies, Mandibular prognathia, Wide mouth, W... OMIM:249630
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Reduced natur... OMIM:619374
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
Oculodentodigital Dysplasia, Autosomal Recessive
Abnormal dental enamel morphology, Thin vermilion border, Hypoplasia of teeth, Narrow mouth, Dent... OMIM:257850
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Platyspondyly, Carious teeth, Maternal diabetes, Abnormal vertebral morphology, Aplasia/hypoplasi... ORPHA:93346
Cerebrotendinous Xanthomatosis
Personality disorder, Abnormality of tibia morphology, Abnormality of extrapyramidal motor functi... ORPHA:909
Spastic Paraplegia 16, X-Linked
Spastic paraplegia, Mood swings, Short distal phalanx of finger, Lower limb spasticity, Low frust... OMIM:300266
Severe Oculo-Renal-Cerebellar Syndrome
Scoliosis, Macrotia, Joint hyperflexibility, Mandibular prognathia, Spastic diplegia, Wide mouth,... ORPHA:2715
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal form of the vertebral bodies, Hypoplasia of the maxilla, Conductive hearing impairment, ... ORPHA:93262
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Scoliosis, Tremor, Ankle clonus, Bradykinesia, Multiple joint contractures, Parkinsonism, Babinsk... ORPHA:521406
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Scoliosis, Tremor, Inappropriate laughter, Limitation of movement at ankles, Drooling, Mandibular... ORPHA:98794
Klippel-Feil Syndrome 2, Autosomal Recessive
Scoliosis, Conductive hearing impairment, Abnormality of the pinna, Cervical C2/C3 vertebral fusi... OMIM:214300
Plaa-Associated Neurodevelopmental Disorder
Abnormality of extrapyramidal motor function, Hypsarrhythmia, Progressive spastic quadriplegia, S... ORPHA:521426
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Increased proportion of CD25+... ORPHA:2442
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Cirrhosis, Lymphopenia, Neutropenia, Hyperpigmentat... OMIM:604250
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Tremor, Abnormal nerve conduction velocity, Kyphosis, Ataxia, Hearing impairment, Dist... ORPHA:101075
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Excessive salivation, Hyperphenylalaninemia, Hypertonia, Irritability, Myoclonus, Microce... OMIM:261630
Premature Aging Syndrome, Penttinen Type
Scoliosis, Delayed eruption of teeth, Wormian bones, Thin vermilion border, Osteolytic defects of... OMIM:601812
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Hyperlordosis, Carious teeth, Abnormal dental enamel morphology, Toe syndactyly, Abnormality of d... ORPHA:3253
Dystonia, Dopa-Responsive
Scoliosis, Postural tremor, Transient hyperphenylalaninemia, Dysdiadochokinesis, Cogwheel rigidit... OMIM:128230
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Short philtrum, Broad thumb, Joint laxity, Open mouth, Dental crowding, Micrognathia, Abnormally ... OMIM:309520
Purine Nucleoside Phosphorylase Deficiency
Tremor, Pure red cell aplasia, Increased circulating guanosine concentration, Autoimmune thromboc... OMIM:613179
Mend Syndrome
Overlapping fingers, Hand polydactyly, Aggressive behavior, Overlapping toe, Spotty hypopigmentat... ORPHA:401973
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Dyspnea, Interstitial pneumonitis, Cough, Weight loss, Eosinophilia ORPHA:139402
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Broad thumb, Patent ductus arteriosus, Neutropenia, Anemia, Leukopenia, High palate, Hypoplasia o... OMIM:612541
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Pancytopenia, Peripheral arterial stenosis, Leukopenia, Anemia OMIM:167850
48,Xxxy Syndrome
Scoliosis, Open bite, Abnormal dental enamel morphology, Carious teeth, Elbow dislocation, Mandib... ORPHA:96263
X-Linked Intellectual Disability, Sutherland-Haan Type
Macrotia, Hypoplasia of the maxilla, Mandibular prognathia, Decreased body weight, Small for gest... ORPHA:93950
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Metaphyseal chondrodysplasia OMIM:200900
Craniofacial-Deafness-Hand Syndrome
Short nose, Ulnar deviation of the hand, Sensorineural hearing impairment, Ulnar deviation of the... OMIM:122880
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Scoliosis, Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Sensorineural hea... OMIM:270500
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Lymphopenia, B lymphocytopenia, Failure to thrive, Sinusitis, ... ORPHA:277
Acrootoocular Syndrome
Small hypothenar eminence, Atresia of the external auditory canal, Grayish enamel, Sandal gap, Se... ORPHA:2980
X-Linked Charcot-Marie-Tooth Disease Type 3
Scoliosis, Hip dysplasia, Decreased motor nerve conduction velocity, Tremor, Hand muscle weakness... ORPHA:101077
Basal Cell Nevus Syndrome
Scoliosis, Irregular ossification of hand bones, Short 4th metacarpal, Odontogenic keratocysts of... OMIM:109400
Microcephalic Primordial Dwarfism, Montreal Type
Scoliosis, Open bite, Carious teeth, Low-set, posteriorly rotated ears, Kyphosis, Hypertonia, Abn... ORPHA:2617
Distal 17P13.1 Microdeletion Syndrome
EEG with spike-wave complexes, Generalized joint laxity, Limitation of knee mobility, Abnormal ha... ORPHA:319171
Distal Limb Deficiencies-Micrognathia Syndrome
Oligodactyly, Tarsal synostosis, Narrow mouth, Abnormality of the ulna, Microretrognathia, Low-se... ORPHA:1307
Nablus Mask-Like Facial Syndrome
Long philtrum, Craniosynostosis, Short nose, Narrow mouth, Camptodactyly, Secondary microcephaly,... OMIM:608156
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Narrow mouth, ... ORPHA:2412
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Abnormality of extrapyramidal motor function, Hypertonia, Postaxial polydactyly, Cessation of hea... OMIM:617527
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Intrinsic hand muscle atrophy, Abnormal sensory nerve conduction velocity, Proximal muscl... ORPHA:276435
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Abnormal vertebral segmentation and fusion, Cleft ... ORPHA:66637
Craniofacial-Deafness-Hand Syndrome
Camptodactyly of finger, Short nose, Narrow mouth, Ulnar deviation of the wrist, Sensorineural he... ORPHA:1529
Osteogenesis Imperfecta
Scoliosis, Joint hypermobility, Carious teeth, Abnormal dental enamel morphology, Wormian bones, ... ORPHA:666
Cystic Echinococcosis
Peritoneal abscess, Increased circulating antibody level, Weight loss, Splenic cyst, Asthma, Absc... ORPHA:400
Gm1 Gangliosidosis
Scoliosis, Narrow mouth, Abnormality of extrapyramidal motor function, Mandibular prognathia, Pat... ORPHA:354
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal aggressive, impulsive or violent behavior, Tremor, Bipolar affective disorder, Aggressiv... ORPHA:3077
Ataxia-Telangiectasia
Tremor, Lymphopenia, Aplasia/Hypoplasia of the thymus, Ataxia, Failure to thrive, Type II diabete... ORPHA:100
Saul-Wilson Syndrome
Platyspondyly, Talipes equinovarus, Short metatarsal, Neutropenia, Short distal phalanx of finger... OMIM:618150
Klippel-Feil Syndrome 1, Autosomal Dominant
Scoliosis, Abnormality of limb bone morphology, Conductive hearing impairment, Cervical C2/C3 ver... OMIM:118100
4Q21 Microdeletion Syndrome
Scoliosis, Tremor, Thin vermilion border, Short philtrum, Toe syndactyly, Downturned corners of m... ORPHA:238750
Mucopolysaccharidosis, Type Ivb
Scoliosis, Carious teeth, Joint laxity, Constricted iliac wing, Mandibular prognathia, Ovoid vert... OMIM:253010
12Q14 Microdeletion Syndrome
Scoliosis, Tremor, Thin vermilion border, Downturned corners of mouth, Osteopoikilosis, Hypodonti... ORPHA:94063
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Obesity, Hip dysplasia, Ulnar metap... ORPHA:174
Immunodeficiency 69
Increased circulating ferritin concentration, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia,... OMIM:618963
Proximal 16P11.2 Microduplication Syndrome
Scoliosis, Tremor, Decreased body mass index, Bipolar affective disorder, Smooth philtrum, Hemive... ORPHA:370079
Glut1 Deficiency Syndrome 2
Tremor, Reticulocytosis, Ataxia, EEG abnormality, Irritability, Choreoathetosis OMIM:612126
Dentinogenesis Imperfecta
Joint hypermobility, Finger joint hypermobility, Generalized hypoplasia of dental enamel, Abnorma... ORPHA:49042
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Arthrogryposis multiplex congenita, Anterior clefting of vertebral bodies, Narrow mout... OMIM:265000
Orofaciodigital Syndrome Type 1
Open bite, Abnormal dental enamel morphology, Tarsal synostosis, Tongue nodules, Odontogenic neop... ORPHA:2750
Kagami-Ogata Syndrome
Long philtrum, Flexion contracture, Patent ductus arteriosus, Limb undergrowth, Long fingers, Hep... OMIM:608149
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Cone-shaped epiphyses of the toes, Hypoplasia of the maxilla, Cone-shaped epiphyses of the 4th to... ORPHA:397973
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Hypoplasia of the maxilla, Smooth philtrum, Interictal epileptiform activity, Thin upper lip verm... OMIM:618737
Pelger-Huet Anomaly
Short 4th metacarpal, Short 3rd metacarpal, Upper limb undergrowth, Abnormality of neutrophils, P... OMIM:169400
Split-Hand/Foot Malformation 3
Narrow mouth, Microretrognathia, Split hand, Camptodactyly, Abnormality of the pinna, Cleft palat... OMIM:246560
Aicardi Syndrome
Scoliosis, Hip dysplasia, Prominence of the premaxilla, Short philtrum, Abnormality of skin pigme... ORPHA:50
Rubinstein-Taybi Syndrome 1
Enamel hypoplasia, Joint hypermobility, Scoliosis, Narrow palate, Joint laxity, Narrow mouth, Den... OMIM:180849
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Scoliosis, Carious teeth, Joint hyperflexibility, Hypertonia, Low-set, posteriorly rotated ears, ... ORPHA:1390
Epilepsy, Familial Adult Myoclonic, 1
Tremor, EEG with photoparoxysmal response, Giant somatosensory evoked potentials, Enhancement of ... OMIM:601068
Hypomandibular Faciocranial Dysostosis
Pursed lips, Aglossia, Patent ductus arteriosus, Coronal craniosynostosis, Micrognathia, Malar fl... OMIM:241310
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Choreoathetosis, Excessive salivation, Hyperphenylalaninemia, Hypertonia, Ataxia, Bradyki... OMIM:261640
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Salmonella osteomyelitis, Weight loss, Histiocytosis, Hypoalbuminem... OMIM:209950
Acro-Renal-Mandibular Syndrome
Scoliosis, Split hand, Aplasia/Hypoplasia of the tongue, Hemivertebrae, Oral cleft, High palate, ... ORPHA:958
Martsolf Syndrome 1
Talipes equinovarus, Short philtrum, Tooth malposition, Joint laxity, Short phalanx of finger, Sp... OMIM:212720
Shwachman-Diamond Syndrome
Carious teeth, Metaphyseal irregularity, Neutropenia, Pancytopenia, Pancreatic hypoplasia, Anemia... ORPHA:811
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Carious teeth, Overriding aorta, Narrow mouth, Downturned corners of mouth, Macrotia, Abnormal ao... ORPHA:1110
Autosomal Dominant Hyper-Ige Syndrome
Cough, Increased circulating IgE level, Eosinophilia, Atelectasis ORPHA:2314
Xeroderma Pigmentosum, Complementation Group F
Scoliosis, Tremor, Flexion contracture, Ataxia, Decreased body weight, Hearing impairment, Microc... OMIM:278760
Cyclic Neutropenia
Peritonitis, Recurrent tonsillitis, Oral ulcer, Decreased eosinophil count, Tooth abscess, Lympho... ORPHA:2686
Charcot-Marie-Tooth Disease, Type 4C
Scoliosis, Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potenti... OMIM:601596
Saethre-Chotzen Syndrome
Scoliosis, Open bite, Abnormality of the antihelix, Craniosynostosis, Narrow palate, Broad thumb,... ORPHA:794
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Hyperplasia of the maxilla, EEG with spike-wave complexes, C... OMIM:618587
Marshall-Smith Syndrome
Scoliosis, Accelerated skeletal maturation, Prominence of the premaxilla, Overfolded helix, Paten... OMIM:602535
Jackson-Weiss Syndrome
Short metatarsal, Toe syndactyly, Broad hallux phalanx, Mandibular prognathia, Abnormal palate mo... ORPHA:1540
Acro-Renal-Ocular Syndrome
Radial club hand, Optic disc coloboma, Broad hallux phalanx, Sandal gap, Sensorineural hearing im... ORPHA:959
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Broad thumb, Stapes ankylosis, Conductive hearing impairment, Short distal phalan... OMIM:184460
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Genu valgum, Abnormality of dental morphology, Low-set, posteriorly ro... ORPHA:2972
Diffuse Cutaneous Mastocytosis
Leukemia, Cutaneous mastocytosis ORPHA:79456
Classical-Like Ehlers-Danlos Syndrome Type 2
Joint hypermobility, Narrow palate, Elbow dislocation, Phalangeal dislocation, Long uvula, Hammer... ORPHA:536532
Zimmermann-Laband Syndrome
Joint hypermobility, Sensorineural hearing impairment, Generalized hyperpigmentation, High palate... ORPHA:3473
Meier-Gorlin Syndrome 1
Absent glenoid fossa, Joint laxity, Narrow mouth, Elbow dislocation, Camptodactyly, Atresia of th... OMIM:224690
Kohlschutter-Tonz Syndrome-Like
Enamel hypoplasia, Joint hypermobility, Carious teeth, Scoliosis, Overweight, Hypsarrhythmia, Yel... OMIM:619229
Maculopapular Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:79457
Spondylocostal Dysostosis 5
Scoliosis, Low back pain, Hemivertebrae, Vertebral fusion, Short neck, Butterfly vertebrae OMIM:122600
Cartilage-Hair Hypoplasia
Scoliosis, Joint hypermobility, Limited elbow extension, Impaired lymphocyte transformation with ... OMIM:250250
Hermansky-Pudlak Syndrome 2
Carious teeth, Albinism, Neutropenia, Acetabular dysplasia, Generalized hypopigmentation, Long ph... OMIM:608233
Mucopolysaccharidosis, Type Iva
Scoliosis, Carious teeth, Joint laxity, Constricted iliac wing, Mandibular prognathia, Ovoid vert... OMIM:253000
Dystonia 11, Myoclonic
Tremor, Depression, Agoraphobia, Torticollis, Myoclonus, Anxiety OMIM:159900
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Depression, Ataxia, Emotional lability, Myo... OMIM:615362
Wilson Disease
Clumsiness, Joint swelling, Bone pain, Weight loss, Jaundice, Pathologic fracture, Anemia, Cirrho... ORPHA:905
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Craniosynostosis, Lambdoidal craniosynostosis, Short phalanx of finger... OMIM:614188
Caudal Regression Sequence
Scoliosis, Maternal diabetes, Abnormal iliac wing morphology, Oral cleft, Impulsivity, Joint stif... ORPHA:3027
Charcot-Marie-Tooth Disease Type 4C
Hand muscle atrophy, Sensorineural hearing impairment, Vocal cord paralysis, Thoracic scoliosis, ... ORPHA:99949
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Abnormal serum interleukin level, Dec... ORPHA:3261
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Microcephaly ORPHA:169079
Parkinson Disease 14, Autosomal Recessive
Tremor, Apraxia, Clumsiness, Aggressive behavior, Depression, Bradykinesia, Parkinsonism, Elevate... OMIM:612953
Otospondylomegaepiphyseal Dysplasia
Abnormality of long bone morphology, Short phalanx of finger, Sandal gap, Sensorineural hearing i... ORPHA:1427
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Abnormality of the hand, Ankle flexion contracture, Kyphoscoliosis OMIM:616668
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Low-frequency sensorineural heari... OMIM:613101
20P12.3 Microdeletion Syndrome
Long philtrum, Thickened helices, Broad thumb, Narrow mouth, Broad hallux phalanx, Wide nasal bri... ORPHA:261295
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Micrognathia, Extramedullary hematopoiesis, Hyperbilirubinemia, Osteopetrosis, Panc... OMIM:259720
Craniolenticulosutural Dysplasia
Scoliosis, Delayed eruption of teeth, Carious teeth, Thin vermilion border, Long philtrum, Hypopl... ORPHA:50814
Treacher-Collins Syndrome
Open bite, Abnormal dental enamel morphology, Narrow mouth, Narrow internal auditory canal, Paten... ORPHA:861
Familial Cold Autoinflammatory Syndrome 2
Lower limb pain, Leukocytosis, Sensorineural hearing impairment, Elevated circulating C-reactive ... OMIM:611762
Cowden Syndrome 1
Scoliosis, Narrow mouth, Palmoplantar hyperkeratosis, Lymphopenia, Kyphosis, Furrowed tongue, Hea... OMIM:158350
Sponastrime Dysplasia
Scoliosis, Hip subluxation, Hypoplasia of the nasal bone, Joint laxity, Metaphyseal irregularity,... ORPHA:93357
X-Linked Intellectual Disability, Cabezas Type
Scoliosis, Open bite, Sandal gap, High palate, Short neck, Obesity, Aggressive behavior, Joint hy... ORPHA:85293
Crisponi/Cold-Induced Sweating Syndrome 1
Limited elbow extension, Carious teeth, Long philtrum, Short neck, Narrow mouth, Talipes equinova... OMIM:272430
Osteopetrosis, Autosomal Recessive 2
Genu valgum, Carious teeth, Extramedullary hematopoiesis, Mandibular prognathia, Recurrent fractu... OMIM:259710
Tonne-Kalscheuer Syndrome
Tremor, Broad thumb, Narrow mouth, Downturned corners of mouth, Aggressive behavior, Self-injurio... OMIM:300978
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Dislocated radial head, Platyspondyly, Delayed ossification of carpal bones, Lymphopenia, Hepatic... OMIM:617425
Camurati-Engelmann Disease
Scoliosis, Carious teeth, Abnormality of tibia morphology, Bone pain, Anemia, Leukopenia, Abnorma... ORPHA:1328
Sialidosis Type 2
Osteoporosis, Tremor, Kyphosis, Flexion contracture, Ataxia, Hepatomegaly, Hearing impairment, As... ORPHA:87876
Nager Syndrome
Triphalangeal thumb, Hypoplasia of the radius, Low-set, posteriorly rotated ears, Atresia of the ... ORPHA:245
Flat Face-Microstomia-Ear Anomaly Syndrome
Scoliosis, Camptodactyly of finger, Abnormality of the antihelix, Long philtrum, Narrow mouth, Do... ORPHA:1968
Radio-Tartaglia Syndrome
Scoliosis, Dental crowding, Impulsivity, High palate, High, narrow palate, Micrognathia, Obesity,... OMIM:619312
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Tremor, Prolonged brainstem auditory evoked potentials, Clumsiness, Spastic parapares... ORPHA:206443
Van Maldergem Syndrome 2
Scoliosis, Joint laxity, Downturned corners of mouth, Atresia of the external auditory canal, Sen... OMIM:615546
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Talipes equinovarus, F... OMIM:616719
Epilepsy, Progressive Myoclonic, 6
Scoliosis, Tremor, Ataxia, Myoclonus, Elevated circulating creatine kinase concentration OMIM:614018
Gm1 Gangliosidosis Type 1
Platyspondyly, Long philtrum, Macroglossia, Cherry red spot of the macula, Broad long bone diaphy... ORPHA:79255
Hypermanganesemia With Dystonia 2
Scoliosis, Tremor, Flexion contracture, Ankle clonus, Bradykinesia, Parkinsonism, Babinski sign, ... OMIM:617013
Congenital Disorder Of Glycosylation, Type Iic
Periodontitis, Reduction of neutrophil motility, Anxiety, Short foot, Neutrophilia, Microcephaly,... OMIM:266265
Fucosidosis
Scoliosis, Macroglossia, Absent/hypoplastic coccyx, Absent/hypoplastic paranasal sinuses, Vacuola... OMIM:230000
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Recurrent pneumonia, Decreased mean platelet volume, Increased circulatin... OMIM:301000
Crouzon Disease
Narrow palate, Narrow internal auditory canal, Hypoplasia of the maxilla, Conductive hearing impa... ORPHA:207
Van Maldergem Syndrome 1
Scoliosis, Joint laxity, Downturned corners of mouth, Atresia of the external auditory canal, Sen... OMIM:601390
Cinca Syndrome
Delayed closure of the anterior fontanelle, Abnormality of neutrophils, Leukocytosis, Abnormal gr... ORPHA:1451
3P25.3 Microdeletion Syndrome
Scoliosis, Broad thumb, Downturned corners of mouth, Mandibular prognathia, Patent ductus arterio... ORPHA:435638
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia, Spinal canal stenosis, Tetralogy of Fallot, Proximal placement of ... OMIM:618624
Congenital Disorder Of Glycosylation, Type Iie
Overlapping fingers, Short neck, Short nose, Narrow mouth, Abnormality of the pinna, Smooth philt... OMIM:608779
Eosinophilic Granulomatosis With Polyangiitis
Cough, Weight loss, Respiratory insufficiency, Asthma, Sinusitis, Eosinophilia ORPHA:183
Glycine Encephalopathy With Normal Serum Glycine
Talipes equinovarus, Arthrogryposis multiplex congenita, Joint laxity, Overlapping toe, Clonus, G... OMIM:617301
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis, Weight loss, Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly,... ORPHA:100024
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Tremor, Abnormal peripheral action potential amplitude,... ORPHA:90117
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Tremor, Kyphosis, Ataxia, Hearing impairment, Decreased nerve conduction velocity ORPHA:101078
Holoprosencephaly
Scoliosis, Abnormality of the antihelix, Failure to thrive in infancy, Solitary median maxillary ... ORPHA:2162
Iga Pemphigus
Increased circulating IgA level, Cutaneous abscess, Eosinophilia, Monoclonal elevation of circula... ORPHA:555905
Farber Lipogranulomatosis
Joint swelling, Lipogranulomatosis, Hepatomegaly, Irritability, Failure to thrive, Splenomegaly, ... OMIM:228000
Lowry-Maclean Syndrome
Osteoporosis, Delayed eruption of primary teeth, Talon cusp, Craniosynostosis, Short nose, Downtu... ORPHA:2409
Acrocephalopolysyndactyly Type Iii
Craniosynostosis, Preaxial hand polydactyly, Broad thumb, Dental crowding, Mandibular prognathia,... OMIM:101120
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Scoliosis, Biconcave vertebral bodies, Irregular epiphyses, Tetraparesis, Wide mouth, Ataxia, Os ... OMIM:619260
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Genu valgum, Short nose, Abnormality of the metacarpal bones, Thin upper lip vermilion, Short dis... ORPHA:1295
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, Microcepha... OMIM:607317
Mannosidosis, Alpha B, Lysosomal
Thoracolumbar kyphosis, Femoral bowing, Increased vertebral height, Gait ataxia, Macroglossia, Va... OMIM:248500
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Tremor, Truncal ataxia, Thoracic kyphosis, Small hand, Dysmetria, Short foot,... OMIM:610185
Charcot-Marie-Tooth Disease Type 1F
Scoliosis, Gait ataxia, Flexion contracture of finger, Hand muscle weakness, Scapular winging, He... ORPHA:101085
Prolidase Deficiency
Genu valgum, Carious teeth, Palmoplantar keratoderma, Bilateral single transverse palmar creases,... ORPHA:742
Adult-Onset Distal Myopathy Due To Vcp Mutation
Tremor, Scapular winging, Intrinsic hand muscle atrophy, Depression, Mildly elevated creatine kin... ORPHA:329478
Alveolar Echinococcosis
Cutaneous abscess, Dyspnea, Increased circulating antibody level, Cough, Abnormal spleen morpholo... ORPHA:284
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Scoliosis, Joint hypermobility, Craniosynostosis, Patent ductus arteriosus, Hemivertebrae, High p... OMIM:213980
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Carious teeth, Abnormality of the antihelix, Conductive hearing impairment, Supernumerary tooth, ... ORPHA:3145
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Narrow mouth, Overlapping toe, Contracture of the distal interphalangea... ORPHA:83617
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Clubbing of fingers, Increased proportion autoreactive unresponsive CD21-... OMIM:618534
Rothmund-Thomson Syndrome Type 2
Carious teeth, Abnormal dental enamel morphology, Short phalanx of finger, Synostosis involving b... ORPHA:221016
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Metaphyseal irregularity, Thoracic kyphosis, Mandibular prognathia, Neutropenia, Flat capital fem... OMIM:271510
Myopathy, Mitochondrial, And Ataxia
Scoliosis, Dysdiadochokinesis, Tremor, Truncal ataxia, Depression, Limb ataxia, Mandibular progna... OMIM:617675
Microphthalmia, Syndromic 3
Vertebral hypoplasia, Spastic diplegia, Patent ductus arteriosus, Hemivertebrae, Vertebral fusion... OMIM:206900
Lopes-Maciel-Rodan Syndrome
Scoliosis, Tremor, Hypertonia, Kyphosis, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Sma... OMIM:617435
49,Xxxxy Syndrome
Scoliosis, Open bite, Abnormal dental enamel morphology, Carious teeth, Elbow dislocation, Mandib... ORPHA:96264
Familial Congenital Mirror Movements
Cerebral palsy, Poor fine motor coordination, Fused cervical vertebrae, Clumsiness ORPHA:238722
Hurler-Scheie Syndrome
Abnormal vertebral morphology, Abnormal nerve conduction velocity, Abnormal pyramidal sign, Hepat... ORPHA:93476
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Flynn-Aird Syndrome
Scoliosis, Progressive sensorineural hearing impairment, Carious teeth, Kyphosis, Ataxia, Atheros... ORPHA:2047
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Inappropriate crying, Decreased nerve conduction ... ORPHA:206436
Gaucher Disease, Type Iii
Spastic paraparesis, Depression, Decreased body weight, Ataxia, Pancytopenia, Thrombocytopenia, H... OMIM:231000
Dyskeratosis Congenita
Scoliosis, Carious teeth, Anemia, Neoplasm of the pancreas, Hypoplasia of the maxilla, Osteoporos... ORPHA:1775
Popov-Chang syndrome
Scoliosis, Long philtrum, Lymphopenia, Self-injurious behavior, Thick vermilion border, Thin uppe... OMIM:618428
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the antihelix, Accessory oral frenulum, Preaxial hand polydactyly, Short nose, Abs... ORPHA:79113
Neuroectodermal Melanolysosomal Disease
Tremor, Hypertonia, Ataxia, Generalized hyperpigmentation, Optic atrophy, Rigidity, Hypopigmentat... ORPHA:33445