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Gene: Rab23 MGI:99833

Gene Summary

Name:

RAB23, member RAS oncogene family

Synonyms:

N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating alanine transaminase level	Rab23^{tm1b(EUCOMM)Wtsi}	HET	Early adult	1.60×10^-07
preweaning lethality, complete penetrance	Rab23^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased bone mineral content	Rab23^{tm1b(EUCOMM)Wtsi}	HET	Early adult	3.20×10^-05
decreased lean body mass	Rab23^{tm1b(EUCOMM)Wtsi}	HET	Early adult	3.78×10^-05
increased mean platelet volume	Rab23^{tm1b(EUCOMM)Wtsi}	HET	Early adult	1.33×10^-05
increased circulating aspartate transaminase level	Rab23^{tm1b(EUCOMM)Wtsi}	HET	Early adult	2.82×10^-05

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

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Viewing: all phenotypes

lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	Wholemount images	heterozygote	100% (2 of 2)
Aorta	Wholemount images	heterozygote	100% (2 of 2)
Bone	Wholemount images	heterozygote	100% (2 of 2)
Brain	Wholemount images	heterozygote	100% (2 of 2)
Brainstem	Wholemount images	heterozygote	100% (2 of 2)
Cartilage tissue	Wholemount images	heterozygote	100% (2 of 2)
Cerebellum	Wholemount images	heterozygote	100% (2 of 2)
Cerebral cortex	Wholemount images	heterozygote	100% (2 of 2)
Esophagus	Wholemount images	heterozygote	100% (2 of 2)
Gall bladder	Wholemount images	heterozygote	100% (2 of 2)
Heart	Wholemount images	heterozygote	100% (2 of 2)
Hippocampus	Wholemount images	heterozygote	100% (2 of 2)
Hypothalamus	Wholemount images	heterozygote	100% (2 of 2)
Kidney	Wholemount images	heterozygote	100% (2 of 2)
Large intestine	Wholemount images	heterozygote	100% (2 of 2)
Lower urinary tract	Wholemount images	heterozygote	100% (2 of 2)
Lung	Wholemount images	heterozygote	100% (2 of 2)
Olfactory lobe	Wholemount images	heterozygote	100% (2 of 2)
Oral epithelium	Wholemount images	heterozygote	50% (1 of 2)
Ovary	Wholemount images	heterozygote	50% (1 of 2)
Oviduct	Wholemount images	heterozygote	50% (1 of 2)
Parathyroid gland	Wholemount images	heterozygote	100% (2 of 2)
Peripheral nervous system	Wholemount images	heterozygote	100% (2 of 2)
Pituitary gland	Wholemount images	heterozygote	100% (2 of 2)
Prostate gland	Wholemount images	heterozygote	50% (1 of 2)
Skin	Wholemount images	heterozygote	100% (2 of 2)
Small intestine	Wholemount images	heterozygote	100% (2 of 2)
Spinal cord	Wholemount images	heterozygote	100% (2 of 2)
Stomach	Wholemount images	heterozygote	100% (2 of 2)
Striatum	Wholemount images	heterozygote	100% (2 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
Thyroid gland	Wholemount images	heterozygote	0.0% (0 of 2)
Trachea	Wholemount images	heterozygote	100% (2 of 2)
Uterus	Wholemount images	heterozygote	50% (1 of 2)
Vascular system	Wholemount images	heterozygote	100% (2 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

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

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	100% (2 of 2)
Brain	N/A	homozygote	100% (2 of 2)
Ear	N/A	heterozygote	50% (1 of 2)
Ear	N/A	homozygote	50% (1 of 2)
Embryo	N/A	heterozygote	100% (2 of 2)
Embryo	N/A	homozygote	100% (2 of 2)
Eye	N/A	heterozygote	100% (2 of 2)
Eye	N/A	homozygote	Not available
Footplate	N/A	heterozygote	50% (1 of 2)
Footplate	N/A	homozygote	50% (1 of 2)
Forebrain	N/A	heterozygote	100% (2 of 2)
Forebrain	N/A	homozygote	100% (2 of 2)
Forelimb	N/A	heterozygote	50% (1 of 2)
Forelimb	N/A	homozygote	50% (1 of 2)
Handplate	N/A	heterozygote	50% (1 of 2)
Handplate	N/A	homozygote	50% (1 of 2)
Head	N/A	heterozygote	100% (2 of 2)
Head	N/A	homozygote	100% (2 of 2)
Heart	N/A	heterozygote	50% (1 of 2)
Heart	N/A	homozygote	50% (1 of 2)
Hindbrain	N/A	heterozygote	100% (2 of 2)
Hindbrain	N/A	homozygote	100% (2 of 2)
Hindlimb	N/A	heterozygote	50% (1 of 2)
Hindlimb	N/A	homozygote	50% (1 of 2)
Liver	N/A	heterozygote	50% (1 of 2)
Liver	N/A	homozygote	50% (1 of 2)
Lung	N/A	heterozygote	50% (1 of 2)
Lung	N/A	homozygote	50% (1 of 2)
Mandibular process	N/A	heterozygote	50% (1 of 2)
Mandibular process	N/A	homozygote	50% (1 of 2)
Maxillary process	N/A	heterozygote	50% (1 of 2)
Maxillary process	N/A	homozygote	50% (1 of 2)
Midbrain	N/A	heterozygote	100% (2 of 2)
Midbrain	N/A	homozygote	100% (2 of 2)
Oral cavity	N/A	heterozygote	50% (1 of 2)
Oral cavity	N/A	homozygote	50% (1 of 2)
Skin	N/A	heterozygote	50% (1 of 2)
Skin	N/A	homozygote	50% (1 of 2)
Tail somite	N/A	heterozygote	50% (1 of 2)
Tail somite	N/A	homozygote	100% (2 of 2)
Tail	N/A	heterozygote	100% (2 of 2)
Tail	N/A	homozygote	100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
vascular system	0.0%
white adipose tissue	0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	0.0%
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
oral cavity	0.0%
skin	0.0%
tail	0.0%
tail somite group	0.0%

Associated Images

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

Adult LacZ

LacZ Images Wholemount

21 Images

View images

Echo

M-Mode Images

32 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

MicroCT E14.5-E15.5

Embryo reconstruction

3 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images

MicroCT E18.5

Embryo reconstruction

1 Images

View images

Embryo LacZ

LacZ images wholemount

8 Images

View images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

View images

Human diseases caused by Rab23 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Rab23 (2 diseases)
Human diseases predicted to be associated with Rab23 (584 diseases)

The table below shows human diseases associated to Rab23 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Carpenter Syndrome 1		Duplication of the proximal phalanx of the hallux, Short neck, Clinodactyly of the 5th finger, Sp...	OMIM:201000
Carpenter Syndrome		Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Umbilical...	ORPHA:65759

The table below shows human diseases predicted to be associated to Rab23 by phenotypic similarity.

Disease	Matching phenotypes	Source
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Craniofacial Conodysplasia	Spinal cord compression, Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand	ORPHA:85168
Acrodysplasia Scoliosis	Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly	ORPHA:2956
Spondylosis, Cervical	Spondylolysis, Spina bifida occulta, Cervical spondylosis, Spondylolisthesis	OMIM:184300
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Neural Tube Defects, Susceptibility To	Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Hydrocephalus, Myelomenin...	OMIM:182940
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Scoliosis, Spina bifida oc...	ORPHA:64754
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Fryns Microphthalmia Syndrome	Anophthalmia, Neural tube defect, Abnormality of the vertebral column, Microphthalmia	OMIM:600776
Sprengel Deformity	Cervical segmentation defect, Spina bifida occulta, Hemivertebrae, Scoliosis	OMIM:184400
Brachydactyly, Type C	Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco...	OMIM:113100
Bleeding Disorder, Platelet-Type, 16	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele...	OMIM:187800
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Acrofacial Dysostosis, Catania Type	Spina bifida occulta, Short palm	OMIM:101805
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Dry skin, Scoliosis, Limb undergrowth, Abnormal metaphysis morphology, Spina bifida o...	ORPHA:177
Neuronal Intranuclear Inclusion Disease	Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2289
Spastic Paraplegia 25, Autosomal Recessive	Spinal cord compression, Back pain	OMIM:608220
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Polydactyly, Postaxial, Type A10	Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A	OMIM:618498
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Caudal Duplication	Spina bifida, Myelomeningocele, Abnormal sacrum morphology, Bifid sacrum, Spinal cord lesion, Ver...	ORPHA:1756
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome	Spina bifida occulta, Sacrococcygeal pilonidal abnormality	ORPHA:2840
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity	Spina bifida occulta, Tethered cord	OMIM:615281
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Bilateral microphthalmos, Anophthalmia, Holoprosencephaly	OMIM:611638
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Skin ulcer, Spinal dysraphism	ORPHA:1114
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly, Spina bifida occulta	ORPHA:1514
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Joubert Syndrome 15	Retinal dystrophy, Preaxial polydactyly, Exencephaly, Coloboma, Retinopathy	OMIM:614464
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida, Postaxial hand polydactyly	ORPHA:945
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Ossification Of The Posterior Longitudinal Ligament Of Spine	Spinal cord compression, Myelopathy, Abnormality of the vertebral column	OMIM:602475
Pelvis-Shoulder Dysplasia	Back pain, Lumbar hyperlordosis, Clinodactyly of the 5th finger, Microphthalmia, Spina bifida occ...	OMIM:169550
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Autosomal Dominant Spondylocostal Dysostosis	Hyperlordosis, Short neck, Abnormal sacrum morphology, Vertebral segmentation defect, Scoliosis, ...	ORPHA:1797
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Talipes equinovarus, Spina bifida, Camptodactyly	OMIM:211960
Isotretinoin Syndrome	Sacral dimple, Spina bifida occulta	ORPHA:2305
Anophthalmia Plus Syndrome	Deviation of finger, Vertebral segmentation defect, Anophthalmia, Spina bifida	ORPHA:1104
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Anencephaly 2	Anophthalmia, Anencephaly	OMIM:619452
Fountain Syndrome	Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Spina bifida, Kyphosi...	ORPHA:3219
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida	ORPHA:2476
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia...	OMIM:155100
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Spina bifida occulta, Optic nerve hypoplasia, Scoliosis	OMIM:618736
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Becker Nevus Syndrome	Micromelia, Kyphosis, Abnormal tibia morphology, Scoliosis, Spina bifida occulta	ORPHA:64755
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,...	ORPHA:957
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Short neck, Polydactyly, Talipes equinovaru...	OMIM:613885
White Forelock With Malformations	Clinodactyly of the 5th finger, Finger syndactyly, Spina bifida occulta	ORPHA:2475
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal hip bone morphology	ORPHA:294975
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Occipital encephalocele, Postaxial polydactyly	OMIM:213010
Isolated Klippel-Feil Syndrome	Spina bifida, Short neck, Abnormal sacrum morphology, Abnormality of the vertebral column, Scolio...	ORPHA:2345
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda...	OMIM:609945
Czeizel-Losonci Syndrome	Hitchhiker thumb, Thoracolumbar scoliosis, Spina bifida, Myelomeningocele, Hydrocephalus, 2-3 fin...	ORPHA:2437
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Sacral dimple, Ulnar deviation of the hand, Femur fracture, Kyphosis, Talipes equinovarus, Scolio...	OMIM:618291
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Abnormal intervertebral disk morphology, Camptodactyly of finger, Short neck, ...	ORPHA:2311
Humero-Radial Synostosis	Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Meningocele, Chorioretinal...	ORPHA:3265
Difference Of Sex Development-Intellectual Disability Syndrome	Kyphosis, Spina bifida occulta, Short neck, Genu valgum	ORPHA:2983
Brachydactyly, Type A4	Type A brachydactyly, Short middle phalanx of the 2nd finger, Talipes calcaneovalgus, Congenital ...	OMIM:112800
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Myelomeningo...	OMIM:613686
Congenital Vertical Talus	Pes planus, Rocker bottom foot, Equinus calcaneus, Abnormality of the foot musculature, Myelomeni...	ORPHA:178382
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu...	OMIM:119800
Schisis Association	Encephalocele, Anencephaly, Spina bifida, Micromelia	ORPHA:63862
Bernard-Soulier Syndrome	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag...	OMIM:231200
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Short neck, Small hand, Abnormal form of the vertebral bodies, Scoliosis, Spin...	ORPHA:1787
Meckel Syndrome, Type 11	Occipital encephalocele, Polydactyly	OMIM:615397
Jawad Syndrome	Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd...	OMIM:251255
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl...	ORPHA:488232
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Craniosynostosis 6	Spina bifida occulta, Scoliosis	OMIM:616602
Richieri-Costa/Guion-Almeida Syndrome	Palmoplantar cutis laxa, Spina bifida occulta, Abnormal digit morphology	OMIM:268850
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Myh9-Related Disease	Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Oculocerebrocutaneous Syndrome	Microphthalmia, Orbital encephalocele, Anophthalmia	OMIM:164180
Classical-Like Ehlers-Danlos Syndrome Type 1	Spina bifida occulta	ORPHA:230839
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Spina bifida occulta	OMIM:618060
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Sirenomelia	Absence of the sacrum, Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia	ORPHA:3169
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia	OMIM:207950
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Three M Syndrome 1	Short neck, Hyperlordosis, Increased vertebral height, Short 5th finger, Clinodactyly of the 5th ...	OMIM:273750
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Narrow femoral neck, Long proximal phalanx of finger, Flat capital femoral epiphysis, Streaky met...	OMIM:603546
Pelvis-Shoulder Dysplasia	Syndactyly, Lumbar hyperlordosis, Camptodactyly of finger, Spina bifida, Aplasia/Hypoplasia of th...	ORPHA:2839
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Sandal gap, Short toe, Clinodactyly of the 5th finger, Spina bifida occulta, Short 5th metacarpal...	OMIM:617877
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl...	ORPHA:93320
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Brachydactyly, Toe syndactyly, Sacral dimple, Camptodactyly of finger, Spina bifid...	ORPHA:1327
Acrocraniofacial Dysostosis	Tapered finger, Coxa valga, Abnormal form of the vertebral bodies, Ulnar deviation of finger, Gen...	ORPHA:949
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Split-Foot Malformation With Mesoaxial Polydactyly	1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot	OMIM:616890
Spinocerebellar Ataxia-Dysmorphism Syndrome	Spina bifida occulta	ORPHA:1185
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in...	OMIM:153670
Bardet-Biedl Syndrome 7	Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly	OMIM:615984
Hemihyperplasia, Isolated	Myelomeningocele, Scoliosis	OMIM:235000
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Short neck, Clinodactyly of the 5th finger, Sp...	OMIM:201000
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Short thumb, Preaxial hand ...	ORPHA:1120
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Opti...	OMIM:607323
Vacterl With Hydrocephalus	Absence of the sacrum, Anophthalmia, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypoplasia...	ORPHA:3412
Arthrogryposis, Distal, Type 2A	Flexion contracture of finger, Rocker bottom foot, Kyphoscoliosis, Short neck, Adducted thumb, Ta...	OMIM:193700
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
3Mc Syndrome	Hyperlordosis, Radioulnar synostosis, Prominent coccyx, Scoliosis, Umbilical hernia, Spina bifida...	ORPHA:293843
Solitary Bone Cyst	Abnormal tibia morphology, Abnormal spinal cord morphology, Proximal femoral metaphyseal abnormal...	ORPHA:83468
Acrofacial Dysostosis, Catania Type	Finger syndactyly, Small hand, Short palm, Clinodactyly of the 5th finger, Spina bifida occulta, ...	ORPHA:1786
Sacral Defect With Anterior Meningocele	Back pain, Myeloschisis, Absence of the sacrum, Tethered cord, Hemisacrum, Myelomeningocele, Meni...	OMIM:600145
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Hydrocephalus, Hemivertebrae, Holoprosencephaly, Microphthalmia, Abnormal vertebral...	ORPHA:77298
Hydrolethalus	Anophthalmia, Micromelia, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Microphthalmia	ORPHA:2189
Alagille Syndrome	Hypoplasia of the ulna, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Cli...	ORPHA:52
Iniencephaly	Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Hyperlordosis, Hydrocephalus, Myelom...	ORPHA:63259
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Limb Body Wall Complex	Encephalocele, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the...	ORPHA:2369
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Paresis of extensor muscles of the big toe, Abnormality of the hand, Hand muscle weakness, Abnorm...	ORPHA:99947
Tibial Hemimelia	Absent tibia	OMIM:275220
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Redundant neck skin, Scoliosis, Camptodactyly, Clinodactyly, Spina bifida occulta	OMIM:617360
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Microcephaly With Cervical Spine Fusion Anomalies	Spinal cord compression, Vertebral fusion, Spinal instability	OMIM:251250
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Osteopathia Striata-Cranial Sclerosis Syndrome	Hyperlordosis, Scoliosis, Abnormal metaphysis morphology, Spina bifida occulta, Coarse metaphysea...	ORPHA:2780
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Umbilical...	ORPHA:65759
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Optic disc hypoplasia, Short neck, Absent radius, Preaxial hand ...	ORPHA:233
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Larsen Syndrome	Vertebral fusion, Short metacarpal, Cervical kyphosis, Spatulate thumbs, Spinal cord compression,...	OMIM:150250
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Fused cervical vertebrae, Spina bifida occulta, Butterfly vertebrae	OMIM:619227
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Split Cord Malformation	Back pain, Hemivertebrae, Abnormal thoracic spine morphology, Tethered cord, Hyperlordosis, Myelo...	ORPHA:573278
Occipital Horn Syndrome	Pes planus, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the humerus, Coxa va...	ORPHA:198
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Hydrocephalus, Men...	ORPHA:1908
Isolated Hemihyperplasia	Myelomeningocele, Scoliosis	ORPHA:2128
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va...	OMIM:617927
Diabetic Embryopathy	Abnormal sacrum morphology, Hydrocephalus, Spinal dysraphism, Vertebral segmentation defect, Apla...	ORPHA:1926
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Townes-Brocks Syndrome 2	Spina bifida occulta, Scoliosis	OMIM:617466
Meckel Syndrome, Type 3	Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly, P...	OMIM:607361
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Developmental cataract, Coloboma, Retinal dysplasia, Ocul...	ORPHA:324416
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Meckel Syndrome, Type 2	Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po...	OMIM:603194
Cleidocranial Dysplasia	Tapered finger, Abnormal thumb morphology, Abnormal sacrum morphology, Coxa vara, Genu valgum, Sc...	ORPHA:1452
Incontinentia Pigmenti	Finger syndactyly, Camptodactyly of finger, Abnormal hand morphology, Erythema, Absent hand, Skin...	ORPHA:464
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Short neck, Scoliosis	OMIM:616038
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Tethered cord, Sandal gap, Macrodactyly, Spinal dysraphism, Scoliosis	OMIM:612918
Distal Deletion 10Q	Lumbar hyperlordosis, Sandal gap, Tapered finger, 2-3 toe cutaneous syndactyly, Short metatarsal,...	ORPHA:96148
Waardenburg Syndrome Type 1	Meningocele, Scoliosis, Spina bifida	ORPHA:894
Joubert Syndrome 16	Encephalocele, Coloboma, Retinal dystrophy, Polydactyly	OMIM:614465
Thoraco-Abdominal Enteric Duplication	Diastomatomyelia, Meningocele, Camptodactyly of finger	ORPHA:1759
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity...	OMIM:249700
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Diaphanospondylodysostosis	Myelomeningocele, Abnormal vertebral segmentation and fusion, Absent or minimally ossified verteb...	ORPHA:66637
Nail-Patella Syndrome	Back pain, Lumbar hyperlordosis, Spina bifida, Patellar aplasia, Hypoplastic radial head, Patella...	OMIM:161200
Microphthalmia With Limb Anomalies	Sacral dimple, Toe syndactyly, Sandal gap, Anophthalmia, Capitate-hamate fusion, 2-3 toe cutaneou...	OMIM:206920
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Wildervanck Syndrome	Fused cervical vertebrae, Meningocele, Short neck	ORPHA:3456
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Hydrolethalus Syndrome 2	Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Postaxial foot polydactyly, Preaxial foot...	OMIM:614120
Arthrogryposis, Distal, Type 11	Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac...	OMIM:620019
Camptodactyly Syndrome, Guadalajara, Type Iii	Spina bifida occulta, Absent phalangeal crease, Short neck, Camptodactyly	OMIM:611929
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Bardet-Biedl Syndrome 4	Syndactyly, Polydactyly, Brachydactyly	OMIM:615982
Adams-Oliver Syndrome 4	Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Um...	OMIM:615297
Charge Syndrome	Hypoplasia of the ulna, Cataract, Down-sloping shoulders, Facial palsy, Micrognathia, Absent radi...	OMIM:214800
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Sacral dimple, Toe syndactyly, Sandal gap, Abnormality of thumb ...	ORPHA:235
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Ve...	ORPHA:2990
Cerebrocostomandibular Syndrome	Spina bifida, Kyphosis, Myelomeningocele, Meningocele, Clinodactyly of the 5th finger, Hydranence...	ORPHA:1393
Camptodactyly Syndrome, Guadalajara Type 3	Short neck, Small hand, Short foot, Spina bifida occulta, Broad femoral neck, Distal shortening o...	ORPHA:488434
Basal Cell Nevus Syndrome 1	Vertebral fusion, Spina bifida, Kyphoscoliosis, Hydrocephalus, Irregular ossification of hand bon...	OMIM:109400
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
3Mc Syndrome 1	Sacral dimple, Single interphalangeal crease of fifth finger, Wide anterior fontanel, Short foot,...	OMIM:257920
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Small hand, Short foot, Cutaneous finger syndactyly, Talipes equinovarus, Scoliosis, Short palm, ...	OMIM:235510
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Poland Syndrome	Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, S...	ORPHA:2911
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph...	OMIM:311300
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Absence of the sacrum, Tethered cord, Butterfly vertebrae, Spinal dysraphism	OMIM:617660
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Hydrocephalus, Ab...	ORPHA:163966
Chromosome 17P13.1 Deletion Syndrome	Hallux valgus, Sacral dimple, Arachnodactyly, Broad hallux, Proximal placement of thumb, Spina bi...	OMIM:613776
Trisomy 20P	Finger syndactyly, Camptodactyly of finger, Spina bifida, Short neck, Preaxial hand polydactyly, ...	ORPHA:261318
Vitamin K Antagonist Embryofetopathy	Short neck, Myelomeningocele, Hydrocephalus, Punctate vertebral calcifications, Aplasia/Hypoplasi...	ORPHA:1914
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Hydrocephalus, Meningocele, Anencephaly, Postaxial hand ...	OMIM:611134
Isolated Posterior Meningocele	Tethered cord, Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural t...	ORPHA:268810
Trisomy 13	Anophthalmia, Kyphosis, Postaxial hand polydactyly, Aplasia/Hypoplasia of the iris, Ectrodactyly,...	ORPHA:3378
Frontometaphyseal Dysplasia	Short metacarpal, Ulnar deviation of the hand, Interphalangeal joint contracture of finger, Campt...	ORPHA:1826
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Failure to thrive in infancy, Giant platelets, Anemia, Thrombocytopenia	OMIM:611209
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Syndactyly, Aplasia/Hypoplasia of the middle phalanges o...	OMIM:151050
Cloacal Exstrophy	Spina bifida, Myelomeningocele, Abnormal tibia morphology, Absent foot, Hemivertebrae, Abnormal f...	ORPHA:93929
Lathosterolosis	Increased mean platelet volume, Acanthocytosis, Schistocytosis, Osteoporosis, Anisopoikilocytosis...	OMIM:607330
Trichohepatoenteric Syndrome 1	Small for gestational age, Increased mean platelet volume, Splenomegaly, Increased serum iron, Hy...	OMIM:222470
Biemond Syndrome Type 2	Hydrocephalus, Preaxial polydactyly	ORPHA:141333
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia, Holoprosencephaly	OMIM:147250
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Noonan Syndrome With Multiple Lentigines	Excessive wrinkled skin, Spina bifida occulta, Scoliosis	ORPHA:500
Mosaic Trisomy 9	Rocker bottom foot, Spina bifida, Micromelia, Camptodactyly of finger, Short neck, Hemivertebrae,...	ORPHA:99776
Arthrogryposis, Distal, Type 1A	Hip contracture, Congenital hip dislocation, Overlapping toe, Rocker bottom foot, Single transver...	OMIM:108120
Popliteal Pterygium Syndrome	Spina bifida occulta, Cutaneous finger syndactyly, Talipes equinovarus	OMIM:119500
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Fibular hypopla...	OMIM:201170
Osteopathia Striata With Cranial Sclerosis	Arachnodactyly, Thoracolumbar kyphosis, Hydrocephalus, Osteopathia striata, Fibular hypoplasia, T...	OMIM:300373
Amish Lethal Microcephaly	Spina bifida	ORPHA:99742
Waardenburg Syndrome, Type 1	Myelomeningocele, Hypoplastic iris stroma, Spina bifida, Supernumerary vertebrae	OMIM:193500
Diamond-Blackfan Anemia 1	Absent thumb, Short neck, Short thumb, Partial duplication of thumb phalanx, Hypoplasia of the ra...	OMIM:105650
Orofaciodigital Syndrome Ix	Toe syndactyly, Hand polydactyly, Retinal coloboma, Camptodactyly, Short tibia	OMIM:258865
Meckel Syndrome, Type 10	Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polyd...	OMIM:614175
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Smith-Mccort Dysplasia 2	Pes planus, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Broad metatars...	OMIM:615222
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Oculoauricular Syndrome	Microphthalmia, Spina bifida occulta, Macular hypoplasia, Microphakia	OMIM:612109
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda...	OMIM:615986
Joubert Syndrome 18	Occipital encephalocele, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Talipes...	OMIM:614815
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Toe syndactyly, 4-5 toe syndactyly, 3-5 toe syndactyly, Bilateral talipes equinovarus, Clinodacty...	OMIM:300707
Neurocutaneous Melanocytosis	Syringomyelia, Abnormality of retinal pigmentation, Meningocele, Chorioretinal coloboma	ORPHA:2481
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Phakomatosis Pigmentokeratotica	Hemiatrophy, Scoliosis, Spina bifida	ORPHA:2874
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce...	ORPHA:274
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Developmental Delay, Language Impairment, And Ocular Abnormalities	Tethered cord, Myelomeningocele, Myopic astigmatism, Developmental cataract, Contracture of the p...	OMIM:620141
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Coloboma, Narrow greater sciatic notch, Short phalanx of finger, S...	ORPHA:85167
Muscle-Eye-Brain Disease	Cataract, Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly	ORPHA:588
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Fibular aplasia, Mesomelia, Shor...	OMIM:605274
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow...	OMIM:223800
Focal Dermal Hypoplasia	Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Spina bifida, Split hand, Erythema, H...	ORPHA:2092
Trisomy 1Q	Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Anophthalmia, Preaxial hand polydactyly,...	ORPHA:261344
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Posterior Column Ataxia With Retinitis Pigmentosa	Hyperintensity of MRI T2 signal of the spinal cord, Bone spicule pigmentation of the retina, Cata...	OMIM:609033
Van Esch-O'Driscoll Syndrome	Sacral dimple, Short middle phalanx of finger, Scoliosis, Clinodactyly of the 5th finger, Spina b...	OMIM:301030
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Short femur, Anterior encephalocele, Coloboma, Foot oligodactyly, Holoprosencephaly, Amelia	OMIM:601357
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele	ORPHA:101030
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Increased mean platelet volume	OMIM:616737
Baller-Gerold Syndrome	Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology, Hypoplasia of the ulna,...	OMIM:218600
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped...	OMIM:617102
Brachyolmia Type 3	Short neck, Spinal cord compression, Kyphosis, Proximal femoral metaphyseal irregularity, Platysp...	OMIM:113500
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal thumb morphology, Metatarsus adductus, Tibial bowing, Large hands, Abnormal femoral tors...	ORPHA:500095
Acromelic Frontonasal Dysostosis	Encephalocele, Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Preax...	OMIM:603671
Orofaciodigital Syndrome Xvii	Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me...	OMIM:617926
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Abnormal spinal cord morphology, Acral ulceration, Skin ulcer	ORPHA:139578
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Thoracic scoliosis, Cervical hemivertebrae, Broad hallux, Overlapping toe, Spina bifida, Short ne...	ORPHA:508498
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Clinodactyly of the 5th finger, Short phalanx of finger, Genu varum, Hypoplasia o...	OMIM:274000
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Lateral humeral condyle aplasia, Fibular hypoplasia...	OMIM:164900
Meckel Syndrome, Type 5	Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta...	OMIM:611561
Holoprosencephaly	Encephalocele, Anophthalmia, Short neck, Hydrocephalus, Spinal cord tumor, Abnormal form of the v...	ORPHA:2162
Bardet-Biedl Syndrome 16	Polydactyly	OMIM:615993
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femoral head, Shor...	ORPHA:457395
Campomelic Dysplasia	Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Patellar hypoplasia, Femoral bowin...	OMIM:114290
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contra...	OMIM:601559
Walker-Warburg Syndrome	Metatarsus valgus, Microphthalmia, Hydrocephalus, Anophthalmia	ORPHA:899
Focal Dermal Hypoplasia	Anophthalmia, Osteopathia striata, Short metatarsal, Foot oligodactyly, Spina bifida occulta, Sho...	OMIM:305600
Hallermann-Streiff Syndrome	Spina bifida, Hyperlordosis, Metaphyseal widening, Scoliosis, Microphthalmia, Dry skin	OMIM:234100
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibi...	ORPHA:175
Nephronophthisis 15	Polydactyly	OMIM:614845
Orofaciodigital Syndrome Xi	Postaxial polydactyly	OMIM:612913
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Brachydactyly	OMIM:613819
Syndromic Diarrhea	Small for gestational age, Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus...	ORPHA:84064
Neu-Laxova Syndrome	Spina bifida, Micromelia, Lack of skin elasticity, Large hands, Scoliosis	ORPHA:2671
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Aqueductal stenosis, Absent radius, Micrognathia, Humeroradial synostos...	OMIM:251230
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia...	ORPHA:40366
Knobloch Syndrome 1	Occipital meningocele, Occipital encephalocele, Spina bifida occulta, Macular hypoplasia	OMIM:267750
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Hydrocephalus, Polydactyly	OMIM:602501
Acrootoocular Syndrome	Short metacarpal, Small hypothenar eminence, Sandal gap, Abnormal finger flexion crease, Decrease...	ORPHA:2980
Joubert Syndrome 14	Encephalocele, Postaxial polydactyly, Morning glory anomaly, Hydrocephalus, Meningocele, Optic at...	OMIM:614424
Bleeding Disorder, Platelet-Type, 17	Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules...	OMIM:187900
Arthrogryposis, Distal, Type 2B1	Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Metatars...	OMIM:601680
Zimmermann-Laband Syndrome 1	Hyperextensibility of the finger joints, Scoliosis, Short distal phalanx of toe, Umbilical hernia...	OMIM:135500
Lumbar Syndrome	Myelomeningocele, Spina bifida	ORPHA:83628
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Flexion contracture of finger, Bone spicule pigmentation of the retina, Cataract, Abnormal spinal...	ORPHA:88628
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Decreased mean platelet volume, Lymphocyto...	OMIM:617718
Aicardi Syndrome	Block vertebrae, Proximal placement of thumb, Spina bifida, Hemivertebrae, Scoliosis, Microphthal...	OMIM:304050
Vater/Vacterl Association	Occipital encephalocele, Syndactyly, Tethered cord, Spina bifida, Absent radius, Short thumb, Hyp...	OMIM:192350
Trisomy 18	Camptodactyly of finger, Spina bifida, Postaxial hand polydactyly, Anencephaly, Deviation of fing...	ORPHA:3380
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Anophthalmia, Proximal placement of thumb, Postaxial foot polydactyly, Microph...	ORPHA:139471
Cockayne Syndrome Type 2	Kyphosis, Anophthalmia, Scoliosis	ORPHA:90322
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Cataract, Pseudoepiphyses of the metacarpals, Coxa valga, S...	OMIM:618150
Vertical Talus, Congenital	Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus	OMIM:192950
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Metaphyseal widening, Abnormal tibia morphology, Abnor...	ORPHA:321
Bardet-Biedl Syndrome 19	Postaxial foot polydactyly, Postaxial polydactyly, Mesoaxial hand polydactyly, Y-shaped metacarpals	OMIM:615996
Joubert Syndrome 7	Encephalocele, Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum	OMIM:611560
Blepharocheilodontic Syndrome 1	Neural tube defect, Clinodactyly, Cutaneous syndactyly	OMIM:119580
Basilar Impression, Primary	Syringomyelia, Abnormal cervical myelogram, Kyphoscoliosis, Short neck	OMIM:109500
Triploidy	Finger syndactyly, Cataract, Micrognathia, Hydrocephalus, Meningocele, Holoprosencephaly, Iris co...	ORPHA:3376
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Anophthalmia, Camptodactyly of finger, Ulnar deviation of finger, Talipes equinovarus, Scoliosis,...	ORPHA:1101
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Alg3-Cdg	Neural tube defect, Abnormal limb bone morphology, Metaphyseal chondrodysplasia, Cataract	ORPHA:79321
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Kniest Dysplasia	Enlarged epiphyses, Rhegmatogenous retinal detachment, Abnormality of the epiphysis of the femora...	ORPHA:485
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda...	OMIM:615994
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Tapered finger, Flattened epiphysis, Genu valgum, Polydactyly, Clinodactyly	OMIM:607131
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Finger syndactyly, Broad hallux phalanx, Sacral dimple, Preaxial hand polydactyly,...	ORPHA:2211
Leopard Syndrome 1	Spina bifida occulta, Kyphoscoliosis, Short neck	OMIM:151100
Cerebrooculonasal Syndrome	Postaxial hand polydactyly, Anophthalmia	ORPHA:66625
Meckel Syndrome	Encephalocele, Bowing of the long bones, Anophthalmia, Preaxial hand polydactyly, Hydrocephalus, ...	ORPHA:564
Camptobrachydactyly	Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly	OMIM:114150
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	11 pairs of ribs, Hip contracture, Micrognathia, Metatarsus adductus, Calcaneovalgus deformity, E...	OMIM:616266
8Q24.3 Microdeletion Syndrome	Branchial cyst, Long toe, Thoracic scoliosis, Short femur, Rocker bottom foot, Short hallux, Micr...	ORPHA:508488
Cerebrooculonasal Syndrome	Encephalocele, Anophthalmia, Optic nerve hypoplasia, Postaxial polydactyly, Hydrocephalus, Postax...	OMIM:605627
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H...	ORPHA:85170
Joubert Syndrome 20	4-5 toe syndactyly, Postaxial polydactyly	OMIM:614970
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m...	OMIM:228900
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Metaphyse...	OMIM:300863
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Neurofibromatosis, Type I	Spina bifida, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu valgum, Scoliosis	OMIM:162200
Otopalatodigital Syndrome, Type Ii	Short neck, Short metatarsal, Femoral bowing, Tibial bowing, Short metacarpal, Radial bowing, Bro...	OMIM:304120
Rubinstein-Taybi Syndrome 1	Syndactyly, Broad hallux phalanx, Broad hallux, Spina bifida, Radial deviation of thumb terminal ...	OMIM:180849
Weaver Syndrome	Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i...	OMIM:277590
Joubert Syndrome 17	Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ...	OMIM:617866
Phaver Syndrome	Broad hallux phalanx, Camptodactyly of finger, Short thumb, Myelomeningocele, Abnormal form of th...	ORPHA:2876
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Clinodactyly of the 5th finger, Polydactyly, Upper limb asymmetry	ORPHA:231140
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha...	OMIM:268305
Femoral-Facial Syndrome	Short femur, Micrognathia, Abnormal fibula morphology, Coxa vara, Radioulnar synostosis, Abnormal...	ORPHA:1988
Lateral Meningocele Syndrome	Short neck, Hyperlordosis, Kyphosis, Meningocele, Abnormal form of the vertebral bodies, Dural ec...	ORPHA:2789
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Meningocele, Chorioretinal coloboma	ORPHA:2031
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Retinal detachment, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius,...	OMIM:607143
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Microcornea, Hypoplastic iliac wing, Clinodactyly of t...	OMIM:260660
Curry-Jones Syndrome	Duplication of thumb phalanx, Preaxial hand polydactyly, Lipomyelomeningocele, 2-3 finger syndact...	OMIM:601707
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxia...	OMIM:616300
Slc35A2-Cdg	Camptodactyly of finger, Abnormality of the hand, Coxa valga, Metatarsus adductus, Abnormal long ...	ORPHA:356961
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Otopalatodigital Syndrome Type 2	Encephalocele, Bowing of the long bones, Cataract, Tarsal synostosis, Short hallux, Camptodactyly...	ORPHA:90652
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Short long bone, Postaxial polydactyly, Brachydactyly	OMIM:615633
Joubert Syndrome 23	Polydactyly	OMIM:616490
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Abnormality of the knee, Broad hallux, Micrognathia, Slender finger, Small hand, Tibial bowing, S...	ORPHA:251028
Joubert Syndrome 10	Postaxial polydactyly	OMIM:300804
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Micrognathia, ...	ORPHA:2879
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Polydactyly, Hypoplastic ischia	OMIM:616910
Microphthalmia, Syndromic 3	Vertebral fusion, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Hemivertebrae, Micro...	OMIM:206900
Lateral Meningocele Syndrome	Vertebral fusion, Tethered cord, Short neck, Kyphosis, Hydrocephalus, Meningocele, Dural ectasia,...	OMIM:130720
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Micromelia, Short neck, Long...	OMIM:256520
Joubert Syndrome 40	Postaxial polydactyly	OMIM:619582
Keratoderma Hereditarium Mutilans	Abnormal spinal cord morphology, Autoamputation of digits, Honeycomb palmoplantar hyperkeratosis	ORPHA:494
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Tethered cord, Scoliosis, Spina bifida, Tapered finger	OMIM:619480
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Laurence-Moon Syndrome	Polydactyly, Abnormality of the hand	OMIM:245800
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Jacobsen Syndrome	Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Spina bifida, Short neck, Short toe, Abn...	ORPHA:2308
Fanconi Anemia	Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Abnormal morphology of ulna, Spina bif...	ORPHA:84
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Short ...	OMIM:258315
Doors Syndrome	Aplasia/Hypoplasia of the phalanges of the 2nd toe, Abnormal toe morphology, Abnormal finger morp...	ORPHA:79500
Acromelic Frontonasal Dysplasia	Encephalocele, Meningocele, Patellar hypoplasia, Talipes equinovarus, Preaxial foot polydactyly, ...	ORPHA:1827
Enlarged Parietal Foramina	Occipital encephalocele, Myelomeningocele, Broad thumb	ORPHA:60015
Foix-Alajouanine Syndrome	Hyperintensity of MRI T2 signal of the spinal cord, Back pain, Low back pain, Myelopathy, Spinal ...	ORPHA:79093
Spinal Arteriovenous Metameric Syndrome	Abnormality of the vertebral column, Abnormal spinal cord morphology, Spinal arteriovenous malfor...	ORPHA:53721
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Anophthalmia	OMIM:615636
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Increased mean platelet volume	ORPHA:487796
Orofaciodigital Syndrome Vi	Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Oc...	OMIM:277170
Neuropathy, Congenital, With Arthrogryposis Multiplex	Hyporeflexia of lower limbs, Areflexia of lower limbs, Calcaneovalgus deformity	OMIM:162370
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ...	OMIM:614091
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Rocker bottom foot, Equinovarus deformity, Micrognathia, Calcaneovalg...	ORPHA:3078
Bardet-Biedl Syndrome 8	Postaxial polydactyly	OMIM:615985
Pagod Syndrome	Encephalocele, Meningocele, Spina bifida	ORPHA:991
Coffin-Siris Syndrome 1	Sacral dimple, Sandal gap, Aplasia/Hypoplasia of the patella, Aplasia/Hypoplasia of the distal ph...	OMIM:135900
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Peripheral retinal avascularization, Single transverse palmar crease, Micrognathia, Tibial bowing...	ORPHA:96334
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Small cervical vertebral bodies, Abnormal acetabulum morphology, Retinal...	ORPHA:397715
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Encephaloc...	OMIM:108720
Classical-Like Ehlers-Danlos Syndrome Type 2	Hallux valgus, Pes planus, Arachnodactyly, Sandal gap, Phalangeal dislocation, Equinus calcaneus,...	ORPHA:536532
Hogue-Janssen Syndrome 2	Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Deviation of the 5th finger	OMIM:616362
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Bowing of the legs, Spinal cord compression, Trapezoidal distal fem...	OMIM:307800
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Overlapping toe, Postaxial polydactyly, Preaxial polydactyly, Bilateral talipes equinovarus, Over...	OMIM:618142
Atelosteogenesis Type Iii	Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ...	ORPHA:56305
20P13 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly	ORPHA:313781
Koolen-De Vries Syndrome Due To A Point Mutation	Anomaly of lower limb diaphyses, Sacral dimple, Arachnodactyly, Spina bifida, Hyperlordosis, Kyph...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Anomaly of lower limb diaphyses, Sacral dimple, Arachnodactyly, Spina bifida, Hyperlordosis, Kyph...	ORPHA:363958
Septooptic Dysplasia	Polydactyly, Short finger	OMIM:182230
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Short 5th finger, Polydactyly, Ectrodactyly, Small placenta, Clinodactyly of the 5th ...	ORPHA:397590
Peters Plus Syndrome	Sacral dimple, Toe syndactyly, Rhizomelia, Micromelia, Short neck, Hydrocephalus, Short toe, Shor...	ORPHA:709
22Q11.2 Deletion Syndrome	Arachnodactyly, Spina bifida, Short neck, Hydrocephalus, Meningocele, Occipital myelomeningocele,...	ORPHA:567
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Arachnodactyly, Postaxial polydactyly, Tapered finger, Genu valgum, Clinodactyly of the 5th finge...	OMIM:619721
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly	OMIM:615761
9Q21.13 Microdeletion Syndrome	Hip dysplasia, Syringomyelia, Polydactyly	ORPHA:531151
Enthesitis-Related Juvenile Idiopathic Arthritis	Finger dactylitis, Abnormal metacarpophalangeal joint morphology, Thickened Achilles tendon, Abno...	ORPHA:85438
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Hydrocephalus, Postaxial hand polydactyly, Holoprosencephal...	OMIM:610829
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Micromelia, Postaxial polydactyly, Aplastic clavicle, Hydrocephalus, Anencephaly, Preaxial polyda...	OMIM:616546
Joubert Syndrome 27	Polydactyly	OMIM:617120
Williams Syndrome	Hallux valgus, Sacral dimple, Redundant skin, Hyperlordosis, Kyphosis, Abnormal form of the verte...	ORPHA:904
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610125
Bent Bone Dysplasia Syndrome 2	Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Talipes ...	OMIM:620076
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly	OMIM:217095
Larsen-Like Syndrome	Clinodactyly of the 5th finger, Talipes equinovarus, Radial deviation of the 4th finger, Bipartit...	OMIM:608545
Joubert Syndrome 39	Occipital encephalocele, Joint contracture of the 5th finger, Postaxial polydactyly	OMIM:619562
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma...	OMIM:612651
Fraser Syndrome	Encephalocele, Finger syndactyly, Toe syndactyly, Anophthalmia, Myelomeningocele, Vertebral segme...	ORPHA:2052
Cockayne Syndrome Type 1	Anophthalmia, Scoliosis	ORPHA:90321
Rhombencephalosynapsis	Finger syndactyly, Hydrocephalus, Polydactyly, Complete duplication of thumb phalanx, Short phala...	ORPHA:59315
Fraser Syndrome 1	Encephalocele, Aplasia/Hypoplasia of the thumb, Anophthalmia, Myelomeningocele, Hydrocephalus, Ap...	OMIM:219000
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly, Hand oligodactyly	OMIM:207770
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu...	OMIM:615503
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Microphthalmia, 3-4 finger syndactyly	OMIM:615877
X-Linked Intellectual Disability, Hedera Type	Pes planus, Calcaneovalgus deformity, Absent Achilles reflex, Hyporeflexia of upper limbs, Hypore...	ORPHA:93952
Three M Syndrome 3	Clinodactyly of the 5th finger, Prominent calcaneus, Hip dysplasia, Slender long bone	OMIM:614205
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Brachy...	OMIM:617895
Cardiac-Valvular Ehlers-Danlos Syndrome	Hallux valgus, Pes planus, Sandal gap, Genu recurvatum, Recurrent shoulder dislocation, Long fing...	ORPHA:230851
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Retinal detachment, Rieger anomaly, Tapered finger, Long fingers, Calcaneovalgus deformity, Prima...	ORPHA:521445
Lathosterolosis	Toe syndactyly, Cataract, Talipes, Micrognathia, Postaxial hand polydactyly, Meningocele, Postaxi...	ORPHA:46059
Retinitis Pigmentosa 89	Postaxial polydactyly	OMIM:618955
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos...	ORPHA:2751
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Pes planus, Calcaneovalgus deformity, Genu recurvatum	OMIM:225320
Arthrogryposis, Distal, Type 5D	Congenital hip dislocation, Limited elbow movement, Micrognathia, Limited knee flexion, Calcaneov...	OMIM:615065
Marfan Syndrome	Genu recurvatum, Equinus calcaneus, Micrognathia, Narrow foot, Hypoplasia of the iris, Arachnodac...	OMIM:154700
Joubert Syndrome 1	Optic disc pallor, Retinal dystrophy, Postaxial hand polydactyly, Optic disc coloboma, Occipital ...	OMIM:213300
3P25.3 Microdeletion Syndrome	Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial polydactyly...	ORPHA:435638
Suleiman-El-Hattab Syndrome	Clinodactyly, Polydactyly, Single transverse palmar crease, Brachydactyly	OMIM:618950
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Arachnodactyly, Micrognathia, Calcaneovalgus deformity, Adducted thumb, Talipes equinovarus, Camp...	ORPHA:562528
Bardet-Biedl Syndrome 6	Syndactyly, Postaxial polydactyly	OMIM:605231
Charge Syndrome	Anophthalmia, Aqueductal stenosis, Abnormal tibia morphology, Hemivertebrae, Bifid femur, Holopro...	ORPHA:138
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele	ORPHA:2003
Three M Syndrome 2	Scapular winging, Slender long bone, Short 5th finger, Prominent calcaneus, Clinodactyly	OMIM:612921
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Short foot, Short palm, Cli...	ORPHA:264200
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polydactyly, Postaxial h...	OMIM:619879
Microphthalmia, Syndromic 2	Anophthalmia, Broad hallux, Sandal gap, 2-3 toe cutaneous syndactyly, Microphthalmia, 2-3 toe syn...	OMIM:300166
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t...	OMIM:276820
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Combined Oxidative Phosphorylation Defect Type 39	Ankle clonus, Prominent calcaneus, Decreased nerve conduction velocity, Optic disc pallor	ORPHA:565624
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Syngap1-Related Developmental And Epileptic Encephalopathy	Postaxial polydactyly	ORPHA:544254
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Anophthalmia, Abnormality of the humerus, Short thumb, Abnorma...	ORPHA:2538
Silver-Russell Syndrome	Sandal gap, Micrognathia, Lower limb asymmetry, Upper limb asymmetry, Abnormal appendicular skele...	ORPHA:813
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Microphthalmia With Linear Skin Defects Syndrome	Sacral dimple, Anophthalmia, Hydrocephalus, Erythema, Microphthalmia	ORPHA:2556
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Skin ulcer, Scaling skin, Microphthalmia, Dry skin	ORPHA:2526
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Meningocele, Dry skin, Facial erythema, Scaling skin, Flexion contracture of finger	ORPHA:1010
Chromosome 2P16.1-P15 Deletion Syndrome	Arachnodactyly, Optic nerve hypoplasia, Metatarsus adductus, Calcaneovalgus deformity, Camptodact...	OMIM:612513
Cardioacrofacial Dysplasia 1	Limb undergrowth, Postaxial polydactyly, Genu valgum	OMIM:619142
Chromosome 3Pter-P25 Deletion Syndrome	Overlapping toe, Postaxial polydactyly, Tapered finger	OMIM:613792
Senior-Loken Syndrome 9	Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Tarp Syndrome	Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad...	OMIM:311900
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Marfan Syndrome	Retinal detachment, Pes planus, Flat cornea, Arachnodactyly, Protrusio acetabuli, Limited elbow m...	ORPHA:558
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Retinal dystrophy, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shorte...	OMIM:263520
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl...	ORPHA:958
Microphthalmia, Syndromic 9	Anophthalmia, Bilateral microphthalmos	OMIM:601186
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly	OMIM:615989
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Short femur, Talipes equinovarus	OMIM:620306
Kid Syndrome	Coxa valga, Equinus calcaneus, Keratitis, Corneal erosion, Delayed pubic bone ossification, Patel...	ORPHA:477
Proboscis Lateralis	Optic nerve hypoplasia, Microphthalmia, Anophthalmia, Holoprosencephaly	ORPHA:141099
Mitochondrial Trifunctional Protein Deficiency	Equinovarus deformity, Equinus calcaneus, Decreased patellar reflex, Pigmentary retinopathy, Pes ...	ORPHA:746
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Postaxial polydactyly	OMIM:603387
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Block vertebrae, Partial duplication of thumb phalanx, Hyd...	OMIM:164210
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl...	OMIM:617925
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Postaxial polydactyly	OMIM:219730
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Central Y-shaped metacarpal, Preaxial polydactyly, Finger clin...	ORPHA:2754
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Postaxial foot polydactyly, Broad distal phalanx of finger, 2-3 toe syndactyly, Postaxial polydac...	ORPHA:404440
Congenital Disorder Of Glycosylation, Type Iil	Hip dysplasia, Hydrocephalus, Postaxial polydactyly	OMIM:614576
Congenital Sialidosis Type 2	Umbilical hernia, Hydrocephalus, Polydactyly	ORPHA:93400
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Branchiooculofacial Syndrome	Anophthalmia, Proximal placement of thumb, Short neck, Hyperlordosis, Short thumb, Preaxial hand ...	OMIM:113620
X-Linked Cerebral Adrenoleukodystrophy	Ankle clonus, Myelopathy, Abnormal spinal cord morphology	ORPHA:139396
Hydrolethalus Syndrome 1	Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha...	OMIM:236680
Pseudoaminopterin Syndrome	Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia...	ORPHA:221120
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h...	OMIM:200980
Mosaic Trisomy 20	Vertebral fusion, Kyphosis, Abnormal spinal cord morphology, Spinal canal stenosis, Fused cervica...	ORPHA:1724
Arima Syndrome	Retinal dystrophy, Postaxial hand polydactyly, Optic atrophy, Postaxial foot polydactyly, Chorior...	OMIM:243910
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Joubert Syndrome 37	Postaxial polydactyly	OMIM:619185
Orofaciodigital Syndrome I	Syndactyly, Myelomeningocele, Hydrocephalus, Short 2nd toe, Polydactyly, Radial deviation of fing...	OMIM:311200
Mend Syndrome	Overlapping toe, Broad hallux, Long fingers, Hydrocephalus, 2-3 toe syndactyly, Polydactyly, Over...	OMIM:300960
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle bone morphology, ...	OMIM:302960
Adnp Syndrome	Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe morphology, Abnormal fing...	ORPHA:404448
Bardet-Biedl Syndrome 1	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ...	OMIM:209900
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Brachydactyly	OMIM:614099
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Postaxial polydactyly	OMIM:615824
Au-Kline Syndrome	Overlapping toe, Postaxial polydactyly, Coxa valga, Lipomyelomeningocele, Deep palmar crease, Hip...	OMIM:616580
Meckel Syndrome, Type 1	Syndactyly, Bowing of the long bones, Occipital encephalocele, Camptodactyly of finger, Postaxial...	OMIM:249000
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl...	OMIM:210710
Oeis Complex	Absence of the sacrum, Tethered cord, Myelomeningocele, Hydrocephalus, Hemivertebrae, Sacral segm...	OMIM:258040
Senior-Loken Syndrome 8	Polydactyly	OMIM:616307
Orofaciodigital Syndrome V	Postaxial foot polydactyly, Postaxial hand polydactyly, Sandal gap, Postaxial polydactyly	OMIM:174300
Bardet-Biedl Syndrome 20	Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly	OMIM:619471
Tarp Syndrome	Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hy...	ORPHA:2886
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Postaxial polydactyly, Tapered finger, Small hand, Hip dislocation, Short foot, Hip dysplasia	OMIM:300968
Adrenomyeloneuropathy	Atrophy of the spinal cord, Abnormal spinal cord morphology, Dorsal column degeneration, Abnormal...	ORPHA:139399
Choanal Atresia	Polydactyly	ORPHA:137914
Miller-Dieker Lissencephaly Syndrome	Single transverse palmar crease, Deep palmar crease, Polydactyly, Camptodactyly, Clinodactyly of ...	OMIM:247200
Stromme Syndrome	Hydrocephalus, Stillbirth, Preaxial polydactyly	OMIM:243605
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Anophthalmia, Short middle phalanx of finge...	OMIM:607932
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Bilateral talipes equinovarus, 2-3 toe syndactyly, Pes valgus, Equinus calcaneus	ORPHA:522077
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly	ORPHA:314655
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Bilateral microphthalmos, Lobar holoprosencephaly, Holop...	OMIM:610828
Osteogenesis Imperfecta	Cervical kyphosis, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal for...	ORPHA:666
Kinsship Syndrome	Single transverse palmar crease, Coxa valga, Hip dislocation, Fibular hypoplasia, Polydactyly, Me...	OMIM:619297
Carpenter Syndrome 2	Short digit, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Coxa v...	OMIM:614976
Monosomy 9Q22.3	Palmar pits, Umbilical hernia, Hydrocephalus, Polydactyly	ORPHA:77301
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Long fingers, Palmopl...	OMIM:617527
Superficial Siderosis	Atrophy of the spinal cord, Abnormal spinal cord morphology, Abnormality of the vestibulocochlear...	ORPHA:247245
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Clinodactyly of the 5th finger	ORPHA:457284
Schinzel-Giedion Syndrome	Overlapping fingers, Overlapping toe, Aganglionic megacolon, Micrognathia, Hypoplastic pubic bone...	ORPHA:798
Helsmoortel-Van Der Aa Syndrome	Broad hallux, Sandal gap, Tapered finger, Small hand, Genu valgum, Polydactyly, Clinodactyly of t...	OMIM:615873
Acute Disseminated Encephalomyelitis	Abnormal spinal cord morphology, Optic neuritis, Myelitis	ORPHA:83597
3Mc Syndrome 3	Radioulnar synostosis, Clinodactyly, Preaxial polydactyly	OMIM:248340
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Polydactyly, Acromesomelia, Clinodactyly of the 5t...	ORPHA:464306
Tetrasomy 9P	Aplasia/Hypoplasia of the clavicles, Hypoplastic scapulae, Abnormal chorioretinal morphology, Mic...	ORPHA:3310
Semilobar Holoprosencephaly	Hydrocephalus, Hip dislocation, Neural tube defect, Abnormality of the autonomic nervous system, ...	ORPHA:220386
Alobar Holoprosencephaly	Hydrocephalus, Hip dislocation, Neural tube defect, Abnormality of the autonomic nervous system, ...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Hydrocephalus, Hip dislocation, Neural tube defect, Abnormality of the autonomic nervous system, ...	ORPHA:93926
Lobar Holoprosencephaly	Hydrocephalus, Hip dislocation, Neural tube defect, Abnormality of the autonomic nervous system, ...	ORPHA:93924
Microphthalmia, Syndromic 1	Syndactyly, Lumbar hyperlordosis, Anophthalmia, Kyphoscoliosis, Radial deviation of finger, Campt...	OMIM:309800
Loeys-Dietz Syndrome 2	Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Hydrocephalus, Dural ecta...	OMIM:610168
Khan-Khan-Katsanis Syndrome	Clinodactyly, Tethered cord, Postaxial polydactyly	OMIM:618460
Orofaciodigital Syndrome Type 4	Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ...	ORPHA:2753
Pallister-Hall Syndrome	Mesoaxial polydactyly, Broad toe, Toe syndactyly, Overlapping toe, Radial bowing, Postaxial hand ...	ORPHA:672
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly	ORPHA:163681
Cranioectodermal Dysplasia 2	Syndactyly, Rhizomelia, Postaxial hand polydactyly, Polydactyly, Mesomelia, Clinodactyly, Brachyd...	OMIM:613610
Culler-Jones Syndrome	Postaxial polydactyly	OMIM:615849
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Syndactyly, Broad hallux, Deviation of the hallux, Avascular necrosis of the capital femoral epip...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Syndactyly, Broad hallux, Deviation of the hallux, Avascular necrosis of the capital femoral epip...	ORPHA:353277
Amoebiasis Due To Free-Living Amoebae	Facial palsy, Abnormal spinal cord morphology, Corneal perforation, Conjunctival hyperemia, Corne...	ORPHA:68
Myhre Syndrome	Vertebral fusion, Overlapping toe, Short neck, Short toe, 2-3 toe syndactyly, Enlarged vertebral ...	OMIM:139210
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Polydactyly	ORPHA:17
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Abnormal pupil morphology, Calcaneovalgus deformity, Microcornea, Long hallux, Iris coloboma, Lon...	ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, C...	ORPHA:261537
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Tapered finger, Abnormal toe morphology, Polydactyly, 2-4 toe cutaneous syndactyly...	ORPHA:268261
Lacrimoauriculodentodigital Syndrome 1	Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph...	OMIM:149730
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Postaxial polydactyly, Postaxial hand polydactyly, Cone-shaped epiphysis, Short long bone, Short ...	OMIM:617088
Rabson-Mendenhall Syndrome	Polydactyly	ORPHA:769
Simpson-Golabi-Behmel Syndrome, Type 1	Short palm, Broad toe, Postaxial polydactyly, Postaxial hand polydactyly, Hydrocephalus, 2-3 fing...	OMIM:312870
Degcags Syndrome	Syndactyly, Toe syndactyly, Short thumb, Preaxial hand polydactyly, Genu valgum, Polydactyly, Tal...	OMIM:619488
Faciocardiomelic Syndrome	Slender long bone, Polydactyly, Hypoplastic pelvis	OMIM:612731
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Hip dysplasia, Branchial anomaly, Talipes equinovarus, Postaxial polydactyly	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Hip dysplasia, Branchial anomaly, Talipes equinovarus, Postaxial polydactyly	ORPHA:352665
Mowat-Wilson Syndrome	Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Cataract, Pes pla...	ORPHA:2152
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Broad hallux, Postaxial hand polydactyly, Preaxial polydactyly, Holopros...	OMIM:615948
Legius Syndrome	Clinodactyly of the 5th finger, Polydactyly, Diaphyseal dysplasia	ORPHA:137605
Okamoto Syndrome	Hip dysplasia, Tethered cord, Polydactyly, Syringomyelia	ORPHA:2729
Primary Sjögren Syndrome	Abnormality of the peripheral nervous system, Abnormal spinal cord morphology, Keratoconjunctivit...	ORPHA:289390
Mullegama-Klein-Martinez Syndrome	Clinodactyly of the 5th finger, Polydactyly	OMIM:301022
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hallux valgus, Congenital hip dislocation, Overlapping toe, Postaxial polydactyly, Tapered finger...	ORPHA:480880
Neurocardiofaciodigital Syndrome	Syndactyly, Polydactyly	OMIM:619869
Combined Pituitary Hormone Deficiencies, Genetic Forms	Polydactyly, Abnormal digit morphology, Holoprosencephaly	ORPHA:95494
Biliary, Renal, Neurologic, And Skeletal Syndrome	Syndactyly, Postaxial polydactyly, Aqueductal stenosis, Hydrocephalus, Broad first metatarsal, Po...	OMIM:619534

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Rab23

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Rab23.

No publications found that use IMPC mice or data for Rab23.

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MGI Allele	Allele Type	Produced
Rab23^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Rab23^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Rab23^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Rab23 MGI:99833

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Adult LacZ

Echo

X-ray

MicroCT E14.5-E15.5

X-ray

X-ray

MicroCT E18.5

Embryo LacZ

Auditory Brain Stem Response

Human diseases caused by Rab23 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data