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

Download data as: TSV XLS

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

Echo

M-Mode Images

32 Images

View images

Adult LacZ

LacZ Images Wholemount

21 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images

MicroCT E14.5-E15.5

Embryo reconstruction

3 Images

View images

Embryo LacZ

LacZ images wholemount

8 Images

View images

MicroCT E18.5

Embryo reconstruction

1 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 (597 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		Toe syndactyly, Genu valgum, Short neck, Complete duplication of proximal phalanx of the thumb, G...	OMIM:201000
Carpenter Syndrome		Broad thumb, Toe syndactyly, Finger syndactyly, Umbilical hernia, Preaxial foot polydactyly, Genu...	ORPHA:65759

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

Disease	Matching phenotypes	Source
Syndactyly Type 2	Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t...	ORPHA:93403
Craniofacial Conodysplasia	Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand, Spinal cord compression	ORPHA:85168
Acrodysplasia Scoliosis	Spina bifida occulta, Scoliosis, Brachydactyly, Vertebral segmentation defect	ORPHA:2956
Spondylosis, Cervical	Spina bifida occulta, Spondylolysis, Spondylolisthesis, Cervical spondylosis	OMIM:184300
Syndactyly, Type Iv	Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy...	OMIM:186200
Neural Tube Defects, Susceptibility To	Asymmetry of spinal facet joints, Absence of the sacrum, Myelomeningocele, Hydrocephalus, Spina b...	OMIM:182940
Acropectorovertebral Dysplasia	Abnormal vertebral morphology, Toe syndactyly, Spina bifida occulta at L5, Synostosis of carpal b...	OMIM:102510
Triphalangeal Thumb, Nonopposable	Triphalangeal thumb, Polydactyly	OMIM:190600
Polydactyly, Preaxial Ii	Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo...	OMIM:174500
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Nevus Comedonicus Syndrome	Abnormal vertebral morphology, Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bif...	ORPHA:64754
Synpolydactyly 1	Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial...	OMIM:186000
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Sprengel Deformity	Spina bifida occulta, Cervical segmentation defect, Scoliosis, Hemivertebrae	OMIM:184400
Brachydactyly, Type C	Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha...	OMIM:113100
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ...	OMIM:187800
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri...	OMIM:619271
Congenital Radioulnar Synostosis	Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited...	ORPHA:3269
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm...	OMIM:615193
Polydactyly, Preaxial Iv	Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb...	OMIM:174700
Triphalangeal Thumb With Polysyndactyly	Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po...	OMIM:190605
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Dry skin, Abnormal metaphysis morphology, Limb undergrowth, Spina bifida occulta, Sco...	ORPHA:177
Spastic Paraplegia 25, Autosomal Recessive	Spinal cord compression, Back pain	OMIM:608220
Neuronal Intranuclear Inclusion Disease	Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2289
Laurin-Sandrow Syndrome	Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl...	ORPHA:2378
Polydactyly, Postaxial, Type A1	Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han...	OMIM:174200
Polydactyly, Postaxial, Type A10	Postaxial foot polydactyly, Postaxial polydactyly type A, Postaxial hand polydactyly	OMIM:618498
Camptosynpolydactyly, Complex	Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly	OMIM:607539
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome	Spina bifida occulta, Sacrococcygeal pilonidal abnormality	ORPHA:2840
Caudal Duplication	Myelomeningocele, Bifid sacrum, Vertebral segmentation defect, Spinal cord lesion, Spina bifida, ...	ORPHA:1756
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity	Spina bifida occulta, Tethered cord	OMIM:615281
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
Microphthalmia/Coloboma 5	Holoprosencephaly, Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Craniodigital-Intellectual Disability Syndrome	Spina bifida occulta, Finger syndactyly	ORPHA:1514
Hallux Varus And Preaxial Polysyndactyly	Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly	OMIM:234280
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten...	OMIM:605274
Joubert Syndrome 15	Preaxial polydactyly, Retinopathy, Exencephaly, Coloboma, Retinal dystrophy	OMIM:614464
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Acalvaria	Holoprosencephaly, Hydrocephalus, Spina bifida, Postaxial hand polydactyly	ORPHA:945
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi...	OMIM:618167
Pelvis-Shoulder Dysplasia	Lumbar hyperlordosis, Clinodactyly of the 5th finger, Microphthalmia, Spina bifida occulta, Back ...	OMIM:169550
Laurin-Sandrow Syndrome	Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,...	OMIM:135750
Ossification Of The Posterior Longitudinal Ligament Of Spine	Spinal cord compression, Myelopathy, Abnormality of the vertebral column	OMIM:602475
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Camptodactyly, Talipes equinovarus, Spina bifida	OMIM:211960
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Fryns Microphthalmia Syndrome	Anophthalmia, Neural tube defect, Microphthalmia	OMIM:600776
Autosomal Dominant Spondylocostal Dysostosis	Vertebral segmentation defect, Short neck, Hyperlordosis, Spina bifida occulta, Abnormal sacrum m...	ORPHA:1797
Aplasia Cutis Congenita	Erythema, Toe syndactyly, Spinal dysraphism, Skin ulcer, Finger syndactyly	ORPHA:1114
Santos Syndrome	Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi...	OMIM:613005
Isotretinoin Syndrome	Spina bifida occulta, Sacral dimple	ORPHA:2305
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll...	OMIM:620486
Anophthalmia Plus Syndrome	Deviation of finger, Spina bifida, Anophthalmia, Vertebral segmentation defect	ORPHA:1104
Anencephaly 2	Anencephaly, Anophthalmia	OMIM:619452
Fountain Syndrome	Short distal phalanx of finger, Erythema, Coarse metaphyseal trabecularization, Abnormal form of ...	ORPHA:3219
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
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	Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy...	OMIM:155100
Becker Nevus Syndrome	Micromelia, Abnormal tibia morphology, Spina bifida occulta, Scoliosis, Kyphosis	ORPHA:64755
Polydactyly, Preaxial Iii	Triphalangeal thumb, Preaxial polydactyly	OMIM:174600
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Spina bifida occulta, Scoliosis, Optic nerve hypoplasia	OMIM:618736
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Acropectorovertebral Dysplasia	Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt...	ORPHA:957
Meckel Syndrome, Type 8	Occipital encephalocele, Encephalocele, Anophthalmia, Polydactyly, Talipes equinovarus, Short nec...	OMIM:613885
White Forelock With Malformations	Spina bifida occulta, Clinodactyly of the 5th finger, Finger syndactyly	ORPHA:2475
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly, Occipital encephalocele	OMIM:213010
Congenital Absence Of Upper Arm And Forearm With Hand Present	Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Stillbirth, Syndactyly	ORPHA:294975
Syndactyly Type 4	Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot...	ORPHA:93405
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Absent forearm, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of t...	OMIM:119100
Isolated Klippel-Feil Syndrome	Abnormality of the vertebral column, Cervical C2/C3 vertebral fusion, Short neck, Spina bifida, A...	ORPHA:2345
Spondylocostal Dysostosis 4, Autosomal Recessive	Block vertebrae, Myelomeningocele, Abnormal odontoid process morphology, Vertebral segmentation d...	OMIM:613686
Acrofacial Dysostosis, Catania Type	Spina bifida occulta, Brachydactyly, Short palm	OMIM:101805
Fibular Hemimelia	Toe syndactyly, Finger syndactyly, Short tibia, Limited knee flexion/extension, Structural foot d...	ORPHA:93323
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Shallow acetabular fossae, Broad thumb, Toe syndactyly, Hypoplastic iliac wing, Micrognathia, Tal...	OMIM:609945
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Hand clenching, Overlapping fingers, Talipes equinovarus, Femur fracture, Ulnar deviation of the ...	OMIM:618291
Czeizel-Losonci Syndrome	1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Myelomeningocele, 2-3 finger syndactyly, T...	ORPHA:2437
Autosomal Recessive Spondylocostal Dysostosis	Abnormal form of the vertebral bodies, Finger syndactyly, Umbilical hernia, Camptodactyly of fing...	ORPHA:2311
Difference Of Sex Development-Intellectual Disability Syndrome	Spina bifida occulta, Short neck, Genu valgum, Kyphosis	ORPHA:2983
Humero-Radial Synostosis	Elbow dislocation, Chorioretinal coloboma, Abnormality of the wrist, Aplasia/Hypoplasia of the th...	ORPHA:3265
Brachydactyly, Type A4	Aplasia of the middle phalanges of the toes, Talipes calcaneovalgus, Type A brachydactyly, Congen...	OMIM:112800
Congenital Vertical Talus	Abnormality of the foot musculature, Myelomeningocele, Equinus calcaneus, Pes valgus, Pes planus,...	ORPHA:178382
Schisis Association	Micromelia, Anencephaly, Encephalocele, Spina bifida	ORPHA:63862
Acrofacial Dysostosis, Palagonia Type	Small hand, Abnormal form of the vertebral bodies, Finger syndactyly, Short 4th metacarpal, Short...	ORPHA:1787
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Popliteal pterygium, Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyl...	OMIM:119800
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo...	OMIM:231200
Meckel Syndrome, Type 11	Occipital encephalocele, Polydactyly	OMIM:615397
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Jawad Syndrome	Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalangeal crease of fifth ...	OMIM:251255
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t...	ORPHA:488232
Bleeding Disorder, Platelet-Type, 21	Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa...	OMIM:617443
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,...	OMIM:613091
Polydactyly, Postaxial, Type A5	Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly	OMIM:263450
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd...	ORPHA:1892
Classical-Like Ehlers-Danlos Syndrome Type 1	Spina bifida occulta	ORPHA:230839
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Craniosynostosis 6	Spina bifida occulta, Scoliosis	OMIM:616602
Richieri-Costa/Guion-Almeida Syndrome	Spina bifida occulta, Palmoplantar cutis laxa, Abnormal digit morphology	OMIM:268850
Acropectoral Syndrome	Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly	OMIM:605967
Osebold-Remondini Syndrome	Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos...	OMIM:112910
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Splenomegaly, Redu...	OMIM:210250
Myh9-Related Disease	Neutrophil inclusion bodies, Giant platelets, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Oculocerebrocutaneous Syndrome	Orbital encephalocele, Anophthalmia, Microphthalmia	OMIM:164180
Bardet-Biedl Syndrome 5	Syndactyly, Brachydactyly, Polydactyly	OMIM:615983
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Spina bifida occulta	OMIM:618060
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Syringomyelia, Hydrocephalus, Spina bifida	OMIM:207950
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Sirenomelia	Aplasia/Hypoplasia of the radius, Sirenomelia, Absence of the sacrum, Spina bifida	ORPHA:3169
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Three M Syndrome 1	Short 5th finger, Increased vertebral height, Clinodactyly of the 5th finger, Short neck, Hyperlo...	OMIM:273750
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
Synpolydactyly 2	Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Slc35A1-Cdg	Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules	ORPHA:238459
Craniorachischisis	Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly	ORPHA:63260
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
Ulnar Hemimelia	Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal...	ORPHA:93320
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Short toe, Sandal gap, Short 5th metacarpal, Clinodactyly of the 5th finger, Spondylolisthesis, S...	OMIM:617877
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Hydranencephaly, Abnormal form of the vertebral bodies,...	ORPHA:2839
Acromesomelic Dysplasia 2C	Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, E...	OMIM:201250
Camptodactyly Syndrome, Guadalajara Type 1	Short distal phalanx of finger, Toe syndactyly, Short toe, Abnormal form of the vertebral bodies,...	ORPHA:1327
Acrocraniofacial Dysostosis	Short distal phalanx of finger, Ulnar deviation of finger, Broad thumb, Short 1st metacarpal, Abn...	ORPHA:949
Leri-Weill Dyschondrosteosis	Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe...	OMIM:127300
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o...	ORPHA:2098
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate...	OMIM:153670
Spinocerebellar Ataxia-Dysmorphism Syndrome	Spina bifida occulta	ORPHA:1185
Microphthalmia/Coloboma 10	Anophthalmia, Microphthalmia	OMIM:616428
Split-Foot Malformation With Mesoaxial Polydactyly	Mesoaxial hand polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Split hand, Split foot	OMIM:616890
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Long proximal phalanx of ...	OMIM:603546
Carpenter Syndrome 1	Toe syndactyly, Genu valgum, Short neck, Complete duplication of proximal phalanx of the thumb, G...	OMIM:201000
Bardet-Biedl Syndrome 7	2-3 toe syndactyly, Postaxial polydactyly, Clinodactyly, Polydactyly	OMIM:615984
Hemihyperplasia, Isolated	Myelomeningocele, Scoliosis	OMIM:235000
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a...	ORPHA:240
Intellectual Developmental Disorder, Autosomal Dominant 72	Short neck, Spina bifida	OMIM:620439
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Abnormal thumb morphology...	ORPHA:1120
Duane-Radial Ray Syndrome	Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Preaxial polydactyly, Optic ...	OMIM:607323
Arthrogryposis, Distal, Type 2A	Ulnar deviation of the hand or of fingers of the hand, Kyphoscoliosis, Talipes equinovarus, Short...	OMIM:193700
Vacterl With Hydrocephalus	Absence of the sacrum, Abnormal form of the vertebral bodies, Microphthalmia, Anophthalmia, Hydro...	ORPHA:3412
Acrofacial Dysostosis, Catania Type	Small hand, Finger syndactyly, Clinodactyly of the 5th finger, Brachydactyly, Spina bifida occult...	ORPHA:1786
Solitary Bone Cyst	Abnormal ilium morphology, Abnormal tibia morphology, Lytic defects of the radius, Abnormality of...	ORPHA:83468
Pelger-Huet Anomaly	Giant platelets, Failure to thrive, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neut...	OMIM:169400
Polydactyly, Postaxial, Type A7	Short fifth metatarsal, Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe cutaneous...	OMIM:617642
Alagille Syndrome	Short distal phalanx of finger, Abnormal form of the vertebral bodies, Clinodactyly of the 5th fi...	ORPHA:52
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Abnormal vertebral morphology, Anophthalmia, Hydrocephalus, Hemivertebrae, Microphthalmia, Holopr...	ORPHA:77298
3Mc Syndrome	Caudal appendage, Umbilical hernia, Radioulnar synostosis, Prominent coccyx, Hyperlordosis, Spina...	ORPHA:293843
Hydrolethalus	Micromelia, Anophthalmia, Hydrocephalus, Postaxial hand polydactyly, Microphthalmia, Anencephaly	ORPHA:2189
Iniencephaly	Rhizomelia, Absent vertebra, Spinal dysraphism, Rocker bottom foot, Myelomeningocele, Encephaloce...	ORPHA:63259
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u...	OMIM:118651
Limb Body Wall Complex	Progressive congenital scoliosis, Abnormality of the vertebral column, Broad hallux, Myelomeningo...	ORPHA:2369
Postaxial Oligodactyly, Tetramelic	Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-...	OMIM:176240
Tibial Hemimelia	Absent tibia	OMIM:275220
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Clinodactyly, Redundant neck skin, Camptodactyly, Spina bifida occulta, Scoliosis	OMIM:617360
Sacral Defect With Anterior Meningocele	Absence of the sacrum, Tethered cord, Hydromyelia, Myelomeningocele, Myeloschisis, Back pain, Hyd...	OMIM:600145
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Optic atrophy, Absent patellar reflexes, Hand muscle weakness, Abnormal foot morphology, Absent A...	ORPHA:99947
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Microcephaly With Cervical Spine Fusion Anomalies	Spinal instability, Spinal cord compression, Vertebral fusion	OMIM:251250
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Carpenter Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Umbilical hernia, Preaxial foot polydactyly, Genu...	ORPHA:65759
Osteopathia Striata-Cranial Sclerosis Syndrome	Coarse metaphyseal trabecularization, Hyperlordosis, Spina bifida occulta, Scoliosis, Abnormal me...	ORPHA:2780
Langer Mesomelic Dysplasia	Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni...	OMIM:249700
Larsen Syndrome	Spondylolysis, Cervical kyphosis, Hypoplastic cervical vertebrae, Accessory carpal bones, Multipl...	OMIM:150250
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Spina bifida occulta, Butterfly vertebrae, Fused cervical vertebrae	OMIM:619227
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation	OMIM:124900
Aminopterin/Methotrexate Embryofetopathy	Spinal dysraphism, Finger syndactyly, Micromelia, Encephalocele, Aplasia/Hypoplasia of the thumb,...	ORPHA:1908
Occipital Horn Syndrome	Aplastic clavicle, Humerus varus, Genu valgum, Avascular necrosis of the capital femoral epiphysi...	ORPHA:198
Isolated Hemihyperplasia	Myelomeningocele, Scoliosis	ORPHA:2128
Orofaciodigital Syndrome Xviii	Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Genu valgum, Single transverse ...	OMIM:617927
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia	OMIM:616176
Diabetic Embryopathy	Spinal dysraphism, Vertebral segmentation defect, Hydrocephalus, Abnormal sacrum morphology, Apla...	ORPHA:1926
Townes-Brocks Syndrome 2	Spina bifida occulta, Scoliosis	OMIM:617466
Meckel Syndrome, Type 3	Postaxial foot polydactyly, Occipital encephalocele, Polydactyly, Hydrocephalus, Postaxial hand p...	OMIM:607361
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Cleidocranial Dysplasia	Genu valgum, Clinodactyly of the 5th finger, Abnormal thumb morphology, Abnormal metacarpal morph...	ORPHA:1452
Endove Syndrome, Limb-Only Type	Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Umbilical hernia, Shor...	OMIM:619217
Duane Retraction Syndrome	Abnormal form of the vertebral bodies, Optic disc hypoplasia, Preaxial hand polydactyly, Aniridia...	ORPHA:233
Incontinentia Pigmenti	Erythema, Deviation of finger, Finger syndactyly, Skin ulcer, Umbilical hernia, Camptodactyly of ...	ORPHA:464
Meckel Syndrome, Type 2	Encephalocele, Polydactyly, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, An...	OMIM:603194
Lethal Faciocardiomelic Dysplasia	Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Bila...	ORPHA:1972
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Coloboma, Hydrocephalus, Ocular anterior segment dysgenesis, Development...	ORPHA:324416
Neu-Laxova Syndrome 2	Toe syndactyly, Finger syndactyly, Short neck, Spina bifida, Rocker bottom foot, Scoliosis	OMIM:616038
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Macrodactyly, Spinal dysraphism, Sandal gap, Scoliosis, Tethered cord	OMIM:612918
Distal Deletion 10Q	2-3 toe cutaneous syndactyly, Clinodactyly, Prominent fingertip pads, Sandal gap, Lumbar hyperlor...	ORPHA:96148
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Waardenburg Syndrome Type 1	Meningocele, Scoliosis, Spina bifida	ORPHA:894
Joubert Syndrome 16	Coloboma, Encephalocele, Retinal dystrophy, Polydactyly	OMIM:614465
Thoraco-Abdominal Enteric Duplication	Diastomatomyelia, Meningocele, Camptodactyly of finger	ORPHA:1759
Microphthalmia, Syndromic 12	Anophthalmia, Microphthalmia	OMIM:615524
Diaphanospondylodysostosis	Absent or minimally ossified vertebral bodies, Short neck, Myelomeningocele, Abnormal vertebral s...	ORPHA:66637
Nail-Patella Syndrome	Elongated radius, Patellar hypoplasia, Hypoplastic radial head, Lumbar hyperlordosis, Patellar ap...	OMIM:161200
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact...	ORPHA:2756
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f...	OMIM:206920
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Hydrolethalus Syndrome 2	Postaxial foot polydactyly, Preaxial foot polydactyly, Hydrocephalus, Postaxial hand polydactyly,...	OMIM:614120
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume	OMIM:620475
Arthrogryposis, Distal, Type 11	Talipes equinovarus, Absent proximal finger flexion creases, Limited pronation/supination of fore...	OMIM:620019
Camptodactyly Syndrome, Guadalajara, Type Iii	Camptodactyly, Spina bifida occulta, Short neck, Absent phalangeal crease	OMIM:611929
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Finger syndactyly, Ectrodactyly, Preaxial h...	ORPHA:3329
Bardet-Biedl Syndrome 4	Syndactyly, Brachydactyly, Polydactyly	OMIM:615982
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Umbilical hernia, Camptodactyly of finger, Vertebral segmentation defect, Spin...	ORPHA:2990
Dubowitz Syndrome	Small hand, Toe syndactyly, Broad thumb, Sandal gap, Sacral dimple, Dry skin, Clinodactyly of the...	ORPHA:235
Adams-Oliver Syndrome 4	Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p...	OMIM:615297
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Small hand, Umbilical hernia, Cutaneous finger syndactyly, Talipes equinovarus, Camptodactyly, Sp...	OMIM:235510
Basal Cell Nevus Syndrome 1	Short distal phalanx of the thumb, Vertebral wedging, Microphthalmia, Kyphoscoliosis, Polydactyly...	OMIM:109400
Camptodactyly Syndrome, Guadalajara Type 3	Small hand, Broad femoral neck, Distal shortening of limbs, Short neck, Spina bifida occulta, Sho...	ORPHA:488434
Cerebrocostomandibular Syndrome	Hydranencephaly, Myelomeningocele, Spina bifida, Clinodactyly of the 5th finger, Meningocele, Kyp...	ORPHA:1393
Charge Syndrome	Cataract, Bifid femur, Short thumb, Hand monodactyly, Retinal coloboma, Umbilical hernia, Microgn...	OMIM:214800
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th...	OMIM:246570
Acheiropody	Absent forearm, Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, C...	OMIM:200500
Wildervanck Syndrome	Short neck, Meningocele, Fused cervical vertebrae	ORPHA:3456
Poland Syndrome	Small hand, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent hand, Encephalocele, Vert...	ORPHA:2911
3Mc Syndrome 1	Short 5th finger, Caudal appendage, Sacral dimple, Clinodactyly of the 5th finger, Radioulnar syn...	OMIM:257920
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Absence of the sacrum, Butterfly vertebrae, Tethered cord, Spinal dysraphism	OMIM:617660
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Absent frontal sinuses, Short hallux, Dislocated radi...	OMIM:311300
Microphthalmia With Limb Anomalies	Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial foot polydactyly, Elbow disloc...	ORPHA:1106
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ...	ORPHA:1986
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Hypoplastic iliac w...	ORPHA:163966
Trisomy 20P	Platyspondyly, Abnormal form of the vertebral bodies, Finger syndactyly, Umbilical hernia, Preaxi...	ORPHA:261318
Chromosome 17P13.1 Deletion Syndrome	Broad hallux, Umbilical hernia, Long hallux, Arachnodactyly, Short neck, Tapered finger, Hallux v...	OMIM:613776
Vitamin K Antagonist Embryofetopathy	Short distal phalanx of finger, Myelomeningocele, Punctate vertebral calcifications, Short neck, ...	ORPHA:1914
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Hydrocephalus, Postaxial hand polydactyly, Microphthalmi...	OMIM:611134
Cloacal Exstrophy	Myelomeningocele, Abnormal tibia morphology, Talipes equinovarus, Spina bifida, Hemivertebrae, Ab...	ORPHA:93929
Amish Lethal Microcephaly	Spina bifida	ORPHA:99742
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Giant platelets, Failure to thrive in infancy, Thrombocytopenia, Anemia	OMIM:611209
Trisomy 13	Ectrodactyly, Anophthalmia, Aplasia/Hypoplasia of the iris, Postaxial hand polydactyly, Microphth...	ORPHA:3378
Frontometaphyseal Dysplasia	Short diaphyses, Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, ...	ORPHA:1826
Lenz-Majewski Hyperostotic Dwarfism	Flared metaphysis, Aplasia/Hypoplasia of the middle phalanges of the hand, Hyperextensibility of ...	OMIM:151050
Arthrogryposis, Distal, Type 1A	Hand clenching, Joint contracture of the hand, Congenital hip dislocation, Elbow flexion contract...	OMIM:108120
Eales Disease	Macular edema, Myelopathy, Rubeosis iridis, Retinal thinning, Peripheral retinal neovascularizati...	ORPHA:40923
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Failure to thrive,...	OMIM:222470
Noonan Syndrome With Multiple Lentigines	Spina bifida occulta, Scoliosis, Excessive wrinkled skin	ORPHA:500
Biemond Syndrome Type 2	Hydrocephalus, Preaxial polydactyly	ORPHA:141333
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Acrofacial Dysostosis Syndrome Of Rodriguez	Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs ...	OMIM:201170
Popliteal Pterygium Syndrome	Spina bifida occulta, Cutaneous finger syndactyly, Talipes equinovarus	OMIM:119500
Solitary Median Maxillary Central Incisor	Holoprosencephaly, Anophthalmia, Microphthalmia	OMIM:147250
Mosaic Trisomy 9	Micromelia, Finger clinodactyly, Camptodactyly of finger, Talipes equinovarus, Short neck, Spina ...	ORPHA:99776
Oculoauricular Syndrome	Macular hypoplasia, Spina bifida occulta, Microphakia, Microphthalmia	OMIM:612109
Isolated Posterior Meningocele	Hydromyelia, Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital ...	ORPHA:268810
Orofaciodigital Syndrome Ix	Toe syndactyly, Short tibia, Retinal coloboma, Hand polydactyly, Camptodactyly	OMIM:258865
Meckel Syndrome, Type 10	Postaxial foot polydactyly, Occipital encephalocele, Postaxial polydactyly, Ulnar deviation of th...	OMIM:614175
Osteopathia Striata With Cranial Sclerosis	Thoracolumbar kyphosis, Osteopathia striata, Fibular aplasia, Clinodactyly of the 5th finger, Fib...	OMIM:300373
Smith-Mccort Dysplasia 2	Hypoplasia of the odontoid process, Broad femoral neck, Genu valgum, Enlarged interphalangeal joi...	OMIM:615222
Waardenburg Syndrome, Type 1	Myelomeningocele, Hypoplastic iris stroma, Supernumerary vertebrae, Spina bifida	OMIM:193500
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Bardet-Biedl Syndrome 9	Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydactyly, Postaxial hand pol...	OMIM:615986
Diamond-Blackfan Anemia 1	Bifid thoracic vertebrae, Hypoplastic coccygeal vertebrae, Absent thumb, Short thumb, Hypoplastic...	OMIM:105650
Joubert Syndrome 18	Occipital encephalocele, Trident pelvis, Bowing of the long bones, Talipes equinovarus, Postaxial...	OMIM:614815
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Decreas...	ORPHA:274
Phakomatosis Pigmentokeratotica	Hemiatrophy, Scoliosis, Spina bifida	ORPHA:2874
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Toe syndactyly, 3-4 toe syndactyly, Clinodactyly of the 5th finger, 3-5 toe syndactyly, 4-5 toe s...	OMIM:300707
Thrombocytopenia 3	Decreased mean platelet volume, Thrombocytopenia	OMIM:273900
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia	OMIM:611038
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Ectopia pupillae, Cone/cone-rod dystrophy, Bowing of the long bones, Short metac...	ORPHA:85167
Developmental Delay, Language Impairment, And Ocular Abnormalities	Myopic astigmatism, Myelomeningocele, Contracture of the proximal interphalangeal joint of the 5t...	OMIM:620141
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Neurocutaneous Melanocytosis	Syringomyelia, Meningocele, Abnormality of retinal pigmentation, Chorioretinal coloboma	ORPHA:2481
Focal Dermal Hypoplasia	Erythema, Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndactyly, Umbilical hern...	ORPHA:2092
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Br...	OMIM:223800
Muscle-Eye-Brain Disease	Cataract, Optic atrophy, Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th...	OMIM:612447
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Posterior Column Ataxia With Retinitis Pigmentosa	Cataract, Joint contracture of the hand, Optic atrophy, Pigmentary retinopathy, Attenuation of re...	OMIM:609033
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Cone-shaped epiphyses of the ph...	OMIM:617102
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Trisomy 1Q	Toe syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Anophthalmia, Arachnodactyly,...	ORPHA:261344
Van Esch-O'Driscoll Syndrome	Clinodactyly of the 5th finger, Spina bifida occulta, Scoliosis, Short middle phalanx of finger, ...	OMIM:301030
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Foot oligodactyly, Anterior encephalocele, Amelia, Coloboma, Holoprosencephaly, Short femur	OMIM:601357
Subependymal Nodular Heterotopia	Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele	ORPHA:101030
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Increased mean platelet volume	OMIM:616737
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal femoral torsion, Tibial torsion, Long hallux, Abnormal thumb morphology, Tibial bowing, ...	ORPHA:500095
Baller-Gerold Syndrome	Abnormal vertebral morphology, Erythema, Carpal synostosis, Patellar aplasia, Aphalangy of the ha...	OMIM:218600
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
Orofaciodigital Syndrome Xvii	Clinodactyly, Partial duplication of thumb phalanx, Short middle phalanx of the 2nd finger, Polyd...	OMIM:617926
Brachyolmia Type 3	Platyspondyly, Radial deviation of finger, Clinodactyly, Short femoral neck, Proximal femoral met...	OMIM:113500
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Short 5th finger, Broad thumb, Optic nerve hypoplasia, Broad hallux, Thoracic hemivertebrae, Prea...	ORPHA:508498
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Acral ulceration, Skin ulcer, Abnormal spinal cord morphology	ORPHA:139578
Stuve-Wiedemann Syndrome 1	Short tibia, Micrognathia, Metaphyseal rarefaction, Bowing of the long bones, Talipes, Hypoplasti...	OMIM:601559
Ophthalmomandibulomelic Dysplasia	Radioulnar dislocation, Radial bowing, Elbow dislocation, Megalocornea, Decreased mobility 3rd-5t...	OMIM:164900
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Short neck, Aplasia/Hypoplasia affecting the eye, Diaphysea...	ORPHA:175
Meckel Syndrome, Type 5	Postaxial foot polydactyly, Occipital encephalocele, Bowing of the long bones, Postaxial hand pol...	OMIM:611561
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas...	OMIM:274000
Holoprosencephaly	Spinal dysraphism, Abnormal form of the vertebral bodies, Branchial anomaly, Encephalocele, Anoph...	ORPHA:2162
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Overlapping toe, Genu valgum, Carpal bone hypoplasia, Pes planus, Abnormality of the knee, Tibial...	ORPHA:457395
Walker-Warburg Syndrome	Metatarsus valgus, Hydrocephalus, Anophthalmia, Microphthalmia	ORPHA:899
Campomelic Dysplasia	Hypoplastic cervical vertebrae, Shortening of all phalanges of fingers, Contracture of the distal...	OMIM:114290
Hallermann-Streiff Syndrome	Dry skin, Hyperlordosis, Metaphyseal widening, Spina bifida, Microphthalmia, Scoliosis	OMIM:234100
Focal Dermal Hypoplasia	Toe syndactyly, Anophthalmia, Microphthalmia, Foot polydactyly, Short metacarpal, Myelomeningocel...	OMIM:305600
Knobloch Syndrome 1	Macular hypoplasia, Spina bifida occulta, Occipital encephalocele, Occipital meningocele	OMIM:267750
Nephronophthisis 15	Polydactyly	OMIM:614845
Neu-Laxova Syndrome	Micromelia, Lack of skin elasticity, Spina bifida, Large hands, Scoliosis	ORPHA:2671
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Ectopia pupillae, Cone/cone-rod dystrophy, Hypoplastic inferior ilia, Short metacarpal, Optic dis...	OMIM:608940
Orofaciodigital Syndrome Xi	Postaxial polydactyly	OMIM:612913
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Brachydactyly, Short long bone, Polydactyly	OMIM:613819
Microcephaly-Micromelia Syndrome	Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi...	OMIM:251230
Bardet-Biedl Syndrome 16	Polydactyly	OMIM:615993
Acitretin/Etretinate Embryopathy	Abnormality of the calcaneus, Micrognathia, Aplasia/hypoplasia involving bones of the upper limbs...	ORPHA:40366
Zimmermann-Laband Syndrome 1	Short distal phalanx of finger, Umbilical hernia, Spina bifida occulta, Scoliosis, Short distal p...	OMIM:135500
Vater/Vacterl Association	Abnormal vertebral morphology, Occipital encephalocele, Short thumb, Preaxial polydactyly, Radiou...	OMIM:192350
Syndromic Diarrhea	Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Abnormality of iron homeosta...	ORPHA:84064
Acrootoocular Syndrome	Small hypothenar eminence, Short toe, Sandal gap, Short finger, Pseudopapilledema, Micrognathia, ...	ORPHA:2980
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Polydactyly, Hydrocephalus, Syndactyly	OMIM:602501
Arthrogryposis, Distal, Type 2B1	Rocker bottom foot, Camptodactyly of finger, Ulnar deviation of the hand or of fingers of the han...	OMIM:601680
Thrombocytopenia 10	Decreased mean platelet volume, Thrombocytopenia	OMIM:620484
Joubert Syndrome 14	Optic atrophy, Encephalocele, Postaxial polydactyly, Coloboma, Hydrocephalus, Meningocele, Mornin...	OMIM:614424
Lumbar Syndrome	Myelomeningocele, Spina bifida	ORPHA:83628
Bleeding Disorder, Platelet-Type, 17	Myelofibrosis, Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Mac...	OMIM:187900
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Cataract, Pigmentary retinopathy, Abnormal sensory nerve conduction velocity, Flexion contracture...	ORPHA:88628
Joubert Syndrome 7	Postaxial polydactyly, Genu valgum, Encephalocele, Postaxial hand polydactyly	OMIM:611560
Orofaciodigital Syndrome Iv	Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han...	OMIM:258860
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Ulnar deviation of finger, Camptodactyly of finger, Umbilical hernia, Aniridia, Anophthalmia, Tal...	ORPHA:1101
Aicardi Syndrome	Block vertebrae, Butterfly vertebrae, Spina bifida, Hemivertebrae, Microphthalmia, Scoliosis, Pro...	OMIM:304050
Cockayne Syndrome Type 2	Scoliosis, Kyphosis, Anophthalmia	ORPHA:90322
Saul-Wilson Syndrome	Cataract, Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of the o...	OMIM:618150
Trisomy 18	Deviation of finger, Camptodactyly of finger, Spina bifida, Postaxial hand polydactyly, Microphth...	ORPHA:3380
Vertical Talus, Congenital	Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus	OMIM:192950
Kniest Dysplasia	Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Aplasia...	ORPHA:485
Microphthalmia With Brain And Digit Anomalies	Postaxial foot polydactyly, Finger syndactyly, Anophthalmia, Microphthalmia, Proximal placement o...	ORPHA:139471
Bardet-Biedl Syndrome 19	Postaxial polydactyly, Y-shaped metacarpals, Postaxial foot polydactyly, Mesoaxial hand polydactyly	OMIM:615996
Blepharocheilodontic Syndrome 1	Cutaneous syndactyly, Clinodactyly, Neural tube defect	OMIM:119580
Multiple Osteochondromas	Abnormal tibia morphology, Abnormal hand morphology, Genu valgum, Bowing of the long bones, Abnor...	ORPHA:321
Alg3-Cdg	Cataract, Abnormal limb bone morphology, Neural tube defect, Metaphyseal chondrodysplasia	ORPHA:79321
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Encephalocele, Exencephaly, Broad hall...	ORPHA:2211
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Failure to thrive, Lymphocytosis, Thrombocytopenia, Elevated circ...	OMIM:617718
Triploidy	Cataract, Finger syndactyly, Micrognathia, Hydrocephalus, Meningocele, Holoprosencephaly, Iris co...	ORPHA:3376
Leopard Syndrome 1	Spina bifida occulta, Short neck, Kyphoscoliosis	OMIM:151100
Ivic Syndrome	Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l...	OMIM:147750
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Basilar Impression, Primary	Syringomyelia, Abnormal cervical myelogram, Short neck, Kyphoscoliosis	OMIM:109500
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Clinodactyly, Genu valgum, Polydactyly, Flattened epiphysis, Tapered finger	OMIM:607131
Bardet-Biedl Syndrome 17	Postaxial foot polydactyly, Mesoaxial hand polydactyly, Polydactyly, Brachydactyly, Postaxial han...	OMIM:615994
Fliedner-Zweier Syndrome	Tethered cord, Hallux valgus, Meningocele, Scoliosis, Kyphosis	OMIM:620511
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Umbilical hernia, Elbow flexion contracture, 11 pairs of ribs, Micrognathia, Hip contracture, Kne...	OMIM:616266
Cerebrooculonasal Syndrome	Anophthalmia, Postaxial hand polydactyly	ORPHA:66625
Meckel Syndrome	Postaxial foot polydactyly, Preaxial hand polydactyly, Encephalocele, Anophthalmia, Aplasia/Hypop...	ORPHA:564
Camptobrachydactyly	Short toe, Hand polydactyly, Brachydactyly, Congenital finger flexion contractures, Syndactyly	OMIM:114150
8Q24.3 Microdeletion Syndrome	Short 5th finger, Optic nerve hypoplasia, Branchial cyst, Micromelia, Finger clinodactyly, Bilate...	ORPHA:508488
Mesomelic Dysplasia, Savarirayan Type	High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa...	ORPHA:85170
Cerebrooculonasal Syndrome	Encephalocele, Anophthalmia, Postaxial polydactyly, Hydrocephalus, Postaxial hand polydactyly, Op...	OMIM:605627
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Distal shortening of limbs, ...	OMIM:300863
Acromesomelic Dysplasia 2B	Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma...	OMIM:228900
Joubert Syndrome 20	Postaxial polydactyly, 4-5 toe syndactyly	OMIM:614970
Weaver Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Overlapping toe...	OMIM:277590
Otopalatodigital Syndrome, Type Ii	Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia...	OMIM:304120
Rubinstein-Taybi Syndrome 1	Broad distal phalanx of finger, Broad thumb, Radial deviation of thumb terminal phalanx, Short th...	OMIM:180849
Thrombocytopenia 1	Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia	OMIM:313900
Phaver Syndrome	Ulnar deviation of finger, Broad thumb, Abnormal form of the vertebral bodies, Short thumb, Campt...	ORPHA:2876
Joubert Syndrome 17	Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly	OMIM:614615
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl...	ORPHA:1988
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Clinodactyly of the 5th finger, Upper limb asymmetry, Polydactyly	ORPHA:231140
Femoral-Facial Syndrome	Short fifth metatarsal, Absent vertebra, Toe syndactyly, Dysplastic sacrum, Preaxial hand polydac...	OMIM:134780
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Small thenar eminence, Mesomelic ar...	OMIM:268305
Lateral Meningocele Syndrome	Dural ectasia, Abnormal form of the vertebral bodies, Umbilical hernia, Syringomyelia, Short neck...	ORPHA:2789
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Micromelia, Preaxial polydactyly, Ulnar bowing, Single transverse palmar crease, 2...	OMIM:617866
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Short tibia, Sandal gap, Short humerus, Short ribs, Talipes equinovarus, Retinal deta...	OMIM:607143
Slc35A2-Cdg	Aplasia/hypoplasia involving bones of the extremities, Short tibia, Camptodactyly of finger, Abno...	ORPHA:356961
Neurofibromatosis, Type I	Genu valgum, Tibial pseudarthrosis, Hydrocephalus, Spina bifida, Aqueductal stenosis, Scoliosis	OMIM:162200
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Microretrognathia, Short tibia, Preaxial polydactyly, Hypoplastic pelvis, Encephaloce...	OMIM:616300
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Meningocele, Chorioretinal coloboma	ORPHA:2031
Cousin Syndrome	Joint contracture of the hand, Hypoplastic scapulae, Hypoplastic iliac wing, Fibular aplasia, Dis...	OMIM:260660
Curry-Jones Syndrome	Broad thumb, Preaxial hand polydactyly, 3-4 toe syndactyly, Preaxial foot polydactyly, Occipital ...	OMIM:601707
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia...	ORPHA:988
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ...	OMIM:609441
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Slender finger, Small hand, Broad thumb, Broad hallux, Abnormal hip bone morphology, Micrognathia...	ORPHA:251028
Otopalatodigital Syndrome Type 2	Cataract, Synostosis of carpal bones, Elbow dislocation, Short thumb, Carpal synostosis, Preaxial...	ORPHA:90652
Joubert Syndrome 23	Polydactyly	OMIM:616490
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Brachydactyly, Short long bone	OMIM:615633
Lateral Meningocele Syndrome	Dural ectasia, Tethered cord, Umbilical hernia, Biconcave vertebral bodies, Syringomyelia, Short ...	OMIM:130720
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Phocomelia, Schinzel Type	Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi...	ORPHA:2879
Spondyloepiphyseal Dysplasia Congenita	Cervical myelopathy, Hypoplasia of the odontoid process, Vitreoretinopathy, Delayed pubic bone os...	OMIM:183900
Microphthalmia, Syndromic 3	Optic nerve hypoplasia, Optic nerve aplasia, Butterfly vertebrae, Anophthalmia, Hemivertebrae, Mi...	OMIM:206900
Joubert Syndrome 40	Postaxial polydactyly	OMIM:619582
Acromelic Frontonasal Dysostosis	Optic nerve hypoplasia, Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foo...	OMIM:603671
Neu-Laxova Syndrome 1	Hydranencephaly, Toe syndactyly, Finger syndactyly, Clinodactyly, Micromelia, Small placenta, Rad...	OMIM:256520
Keratoderma Hereditarium Mutilans	Autoamputation of digits, Abnormal spinal cord morphology, Honeycomb palmoplantar hyperkeratosis	ORPHA:494
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Encephalocele, T...	ORPHA:1827
Laurence-Moon Syndrome	Abnormality of the hand, Polydactyly	OMIM:245800
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Clubbing of toes, Toe syndactyly, Aplasia/Hypoplasia of the radius...	ORPHA:84
Holoprosencephaly 9	Alobar holoprosencephaly, Anophthalmia, Short neck, Hydrocephalus, Postaxial hand polydactyly, Mi...	OMIM:610829
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Tethered cord, Scoliosis, Spina bifida, Tapered finger	OMIM:619480
Omodysplasia 1	Axillary pterygium, Rhizomelia, Popliteal pterygium, Short tibia, Limited knee flexion/extension,...	OMIM:258315
Jacobsen Syndrome	Toe clinodactyly, Toe syndactyly, Abnormal form of the vertebral bodies, Finger syndactyly, Short...	ORPHA:2308
Doors Syndrome	Short 5th finger, Short distal phalanx of finger, Sirenomelia, Clinodactyly of the 5th finger, Lu...	ORPHA:79500
Foix-Alajouanine Syndrome	Cervical myelopathy, Myelitis, Myelopathy, Low back pain, Spinal cord lesion, Hyperintensity of M...	ORPHA:79093
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Hypoplastic ischia, Polydactyly	OMIM:616910
Enlarged Parietal Foramina	Myelomeningocele, Broad thumb, Occipital encephalocele	ORPHA:60015
Bardet-Biedl Syndrome 8	Postaxial polydactyly	OMIM:615985
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Increased mean platelet volume	ORPHA:487796
Neuropathy, Congenital, With Arthrogryposis Multiplex	Areflexia of lower limbs, Calcaneovalgus deformity, Hyporeflexia of lower limbs	OMIM:162370
Joubert Syndrome 21	Occipital encephalocele, Encephalocele, Anophthalmia	OMIM:615636
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short distal phalanx of finger, Hypoplastic scapulae, Micromelia, Polydactyly, Bowing of the long...	OMIM:614091
Spinal Arteriovenous Metameric Syndrome	Abnormal spinal cord morphology, Spinal arteriovenous malformation, Abnormality of the vertebral ...	ORPHA:53721
Severe X-Linked Intellectual Disability, Gustavson Type	Optic atrophy, Congenital hip dislocation, Equinovarus deformity, Micrognathia, Triphalangeal thu...	ORPHA:3078
Orofaciodigital Syndrome Vi	Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand polydactyly, Preaxial foo...	OMIM:277170
Classical-Like Ehlers-Danlos Syndrome Type 2	Radioulnar dislocation, Elbow dislocation, Sandal gap, Umbilical hernia, Knee dislocation, Abnorm...	ORPHA:536532
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Cone-shaped epiphysis, Occipital encephalocele, Small cervical vertebral bodies, Rhizomelic arm s...	ORPHA:397715
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Peripheral retinal avascularization, Hypoplastic scapulae, Short tibia, Thumb contracture, Hypopl...	ORPHA:96334
Atelosteogenesis, Type I	Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Encephalocele, Talipes, Talipes ...	OMIM:108720
Pagod Syndrome	Meningocele, Encephalocele, Spina bifida	ORPHA:991
Houge-Janssens Syndrome 2	Broad hallux, Deviation of the 5th finger, Postaxial polydactyly, Hydrocephalus, Hip dysplasia	OMIM:616362
Coffin-Siris Syndrome 1	Prominent fingertip pads, Sandal gap, Umbilical hernia, Clinodactyly of the 5th finger, Short dis...	OMIM:135900
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Preaxial polydactyly, Overlapping toe, Overlapping fingers, Postaxial polydactyly, Bilateral tali...	OMIM:618142
Peters Plus Syndrome	Rhizomelia, Toe syndactyly, Short toe, Micromelia, Umbilical hernia, Clinodactyly of the 5th fing...	ORPHA:709
Silver-Russell Syndrome Due To A Point Mutation	Short 5th finger, Ectrodactyly, Small placenta, Polydactyly, Clinodactyly of the 5th finger, Synd...	ORPHA:397590
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Broad thumb, Prominent fingertip pads, Genu valgum, Arachnodactyly, Postaxial polydactyly, Clinod...	OMIM:619721
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Trapezoidal distal femoral ...	OMIM:307800
Atelosteogenesis Type Iii	Hand clenching, Absent humerus, Short tibia, Elbow dislocation, Knee dislocation, Short tubular b...	ORPHA:56305
20P13 Microdeletion Syndrome	Brachydactyly, Finger syndactyly, Clinodactyly, Polydactyly	ORPHA:313781
Koolen-De Vries Syndrome Due To A Point Mutation	Dural ectasia, Prominent fingertip pads, Cervical spinal canal stenosis, Spondylolisthesis, Arach...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Dural ectasia, Prominent fingertip pads, Cervical spinal canal stenosis, Spondylolisthesis, Arach...	ORPHA:363958
Septooptic Dysplasia	Polydactyly, Short finger	OMIM:182230
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia	OMIM:603585
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Y-shaped metatarsals, Preaxial hand polydactyly, Dist...	OMIM:146510
Intellectual Developmental Disorder, Autosomal Dominant 23	Postaxial polydactyly, Broad distal phalanx of finger, Sandal gap	OMIM:615761
Williams Syndrome	Abnormal form of the vertebral bodies, Umbilical hernia, Genu valgum, Clinodactyly of the 5th fin...	ORPHA:904
9Q21.13 Microdeletion Syndrome	Syringomyelia, Hip dysplasia, Polydactyly	ORPHA:531151
Enthesitis-Related Juvenile Idiopathic Arthritis	Abnormality of the ankle, Abnormality of the calcaneus, Limited mobility of proximal interphalang...	ORPHA:85438
22Q11.2 Deletion Syndrome	Umbilical hernia, Arachnodactyly, Talipes equinovarus, Short neck, Hand polydactyly, Purpura, Spi...	ORPHA:567
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Micromelia, Preaxial polydactyly, Retinal coloboma, Occipital meningocele, Sho...	OMIM:616546
Joubert Syndrome 27	Polydactyly	OMIM:617120
Microphthalmia, Syndromic 5	Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:610125
Bent Bone Dysplasia Syndrome 2	Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Femoral bowing...	OMIM:620076
Conotruncal Heart Malformations	Postaxial polydactyly, Broad hallux	OMIM:217095
Endocrine-Cerebroosteodysplasia	Sandal gap, Micromelia, Preaxial polydactyly, Fibular bowing, Tibial bowing, Single transverse pa...	OMIM:612651
Cockayne Syndrome Type 1	Scoliosis, Anophthalmia	ORPHA:90321
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul...	OMIM:241150
Larsen-Like Syndrome	Talipes equinovarus, Radial deviation of the 4th finger, Clinodactyly of the 5th finger, Bipartit...	OMIM:608545
Joubert Syndrome 39	Postaxial polydactyly, Occipital encephalocele, Joint contracture of the 5th finger	OMIM:619562
Aprosencephaly Syndrome	Finger aplasia, Aprosencephaly, Anencephaly	OMIM:207770
Rhombencephalosynapsis	Finger syndactyly, Polydactyly, Hydrocephalus, Short phalanx of finger, Complete duplication of t...	ORPHA:59315
Three M Syndrome 3	Clinodactyly of the 5th finger, Prominent calcaneus, Slender long bone, Hip dysplasia	OMIM:614205
Retinitis Pigmentosa 89	Postaxial polydactyly	OMIM:618955
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Micromelia, Postaxial polydactyly, Brachydactyly, Hypoplasia of the radius, Syn...	OMIM:617895
Cardiac-Valvular Ehlers-Danlos Syndrome	Genu recurvatum, Sandal gap, Myopic astigmatism, Recurrent shoulder dislocation, Genu valgum, Hal...	ORPHA:230851
Cutis Laxa, Autosomal Recessive, Type Ib	Arachnodactyly, Bowing of the long bones, Cutis laxa, Spina bifida, Long fingers, Dermal transluc...	OMIM:614437
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydactyly, Brachydactyly, Sho...	OMIM:615503
Matthew-Wood Syndrome	Anophthalmia, Microphthalmia	ORPHA:2470
Fraser Syndrome 1	Bilateral microphthalmos, Myelomeningocele, Cutaneous finger syndactyly, Encephalocele, Anophthal...	OMIM:219000
X-Linked Intellectual Disability, Hedera Type	Hyporeflexia of upper limbs, Absent Achilles reflex, Pes planus, Hyporeflexia of lower limbs, Cal...	ORPHA:93952
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Rhizomelia, Anophthalmia, 2-3 toe syndactyly, Microphthalmia, 3-4 finger syndactyly	OMIM:615877
Orofaciodigital Syndrome Type 2	Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,...	ORPHA:2751
Fraser Syndrome	Toe syndactyly, Finger syndactyly, Umbilical hernia, Myelomeningocele, Encephalocele, Anophthalmi...	ORPHA:2052
Marfan Syndrome	Micrognathia, Arachnodactyly, Talipes, Pes planus, Medial rotation of the medial malleolus, Retin...	OMIM:154700
Lathosterolosis	Cataract, Microcornea, Toe syndactyly, Postaxial foot polydactyly, Micrognathia, Talipes, Postaxi...	ORPHA:46059
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Rieger anomaly, Tapered finger, Primary congenital glaucoma, Retinal detachment, Long fingers, Bu...	ORPHA:521445
Joubert Syndrome 1	Postaxial foot polydactyly, Clinodactyly, Optic disc coloboma, Chorioretinal coloboma, Occipital ...	OMIM:213300
Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	ORPHA:2717
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Genu recurvatum, Pes planus, Calcaneovalgus deformity	OMIM:225320
Suleiman-El-Hattab Syndrome	Brachydactyly, Clinodactyly, Single transverse palmar crease, Polydactyly	OMIM:618950
Arthrogryposis, Distal, Type 5D	Congenital hip dislocation, Elbow flexion contracture, Micrognathia, Limited elbow movement, Tali...	OMIM:615065
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
3P25.3 Microdeletion Syndrome	Broad thumb, Broad hallux, Overlapping toe, Postaxial polydactyly, 2-3 finger syndactyly, Congeni...	ORPHA:435638
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Ulnar deviation of the hand or of fingers of the hand, Micrognathia, Arachnodactyly, Talipes equi...	ORPHA:562528
Bardet-Biedl Syndrome 6	Postaxial polydactyly, Syndactyly	OMIM:605231
Charge Syndrome	Bifid femur, Umbilical hernia, Abnormal tibia morphology, Clinodactyly of the 5th finger, Anophth...	ORPHA:138
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Hand clenching, Sandal gap, Broad hallux, Umbilical hernia, Anophth...	OMIM:300166
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele	ORPHA:2003
Three M Syndrome 2	Short 5th finger, Slender long bone, Clinodactyly, Prominent calcaneus, Scapular winging	OMIM:612921
Microgastria-Limb Reduction Defect Syndrome	Short thumb, Ectrodactyly, Oligodactyly, Absent hand, Microphthalmia, Anophthalmia, Abnormal meta...	ORPHA:2538
Meckel Syndrome 14	Postaxial foot polydactyly, Occipital encephalocele, Bowing of the long bones, Postaxial polydact...	OMIM:619879
Microphthalmia With Linear Skin Defects Syndrome	Erythema, Anophthalmia, Hydrocephalus, Microphthalmia, Sacral dimple	ORPHA:2556
14Q22Q23 Microdeletion Syndrome	Toe syndactyly, Finger syndactyly, Optic nerve aplasia, Short 5th metacarpal, Anophthalmia, Short...	ORPHA:264200
Syngap1-Related Developmental And Epileptic Encephalopathy	Postaxial polydactyly	ORPHA:544254
Combined Oxidative Phosphorylation Defect Type 39	Optic disc pallor, Ankle clonus, Prominent calcaneus, Decreased nerve conduction velocity	ORPHA:565624
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Genu valgum, Limb undergrowth	OMIM:619142
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap...	OMIM:276820
Silver-Russell Syndrome	Lower limb asymmetry, Sandal gap, Abnormality of the calcaneus, Micrognathia, Clinodactyly of the...	ORPHA:813
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea...	OMIM:301000
Chromosome 2P16.1-P15 Deletion Syndrome	Joint contracture of the hand, Arachnodactyly, Metatarsus adductus, Camptodactyly, Calcaneovalgus...	OMIM:612513
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Dry skin, Facial erythema, Flexion contracture of finger, Scaling skin, Meningocele	ORPHA:1010
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Skin ulcer, Dry skin, Anophthalmia, Scaling skin, Microphthalmia	ORPHA:2526
Chromosome 3Pter-P25 Deletion Syndrome	Postaxial polydactyly, Overlapping toe, Tapered finger	OMIM:613792
Manitoba Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	OMIM:248450
Tarp Syndrome	Clinodactyly, Single transverse palmar crease, Neonatal death, Postaxial polydactyly, Talipes equ...	OMIM:311900
Senior-Loken Syndrome 9	Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ...	OMIM:113310
Acheiropodia	Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia...	ORPHA:931
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Short ribs...	OMIM:263520
Acro-Renal-Mandibular Syndrome	Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Rudimentary to absent tibiae, Microg...	ORPHA:958
Bardet-Biedl Syndrome 12	Postaxial hand polydactyly, Postaxial foot polydactyly, Polydactyly	OMIM:615989
Microphthalmia, Syndromic 9	Anophthalmia, Bilateral microphthalmos	OMIM:601186
Neurodegeneration And Seizures Due To Copper Transport Defect	Talipes equinovarus, Short tibia, Short femur	OMIM:620306
Kid Syndrome	Keratitis, Palmoplantar keratoderma, Patellar hypoplasia, Delayed pubic bone ossification, Cornea...	ORPHA:477
Proboscis Lateralis	Holoprosencephaly, Anophthalmia, Optic nerve hypoplasia, Microphthalmia	ORPHA:141099
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Postaxial polydactyly, Hydrocephalus	OMIM:603387
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy, Equinovarus deformity, Pes cavus, Equinus calcaneus, Decreased patellar r...	ORPHA:746
Craniofacial Microsomia 1	Block vertebrae, Occipital encephalocele, Genu valgum, Branchial anomaly, Partial duplication of ...	OMIM:164210
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short tibia, Preaxial polydactyly, Micrognathia, Fibular hypoplasia, Postaxial polydactyly, Short...	OMIM:617925
Ventriculomegaly With Cystic Kidney Disease	Postaxial polydactyly, Hydrocephalus	OMIM:219730
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	2-3 toe syndactyly, Broad distal phalanx of finger, Postaxial foot polydactyly, Postaxial polydac...	ORPHA:404440
Orofaciodigital Syndrome Type 6	Finger clinodactyly, Preaxial polydactyly, Hand polydactyly, Mesoaxial polydactyly, Brachydactyly...	ORPHA:2754
Congenital Disorder Of Glycosylation, Type Iil	Postaxial polydactyly, Hydrocephalus, Hip dysplasia	OMIM:614576
Marfan Syndrome	Dural ectasia, Ectopia lentis, Hypoplasia of the iris, Protrusio acetabuli, Micrognathia, Limited...	ORPHA:558
Congenital Sialidosis Type 2	Polydactyly, Hydrocephalus, Umbilical hernia	ORPHA:93400
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Microphthalmia	ORPHA:2250
X-Linked Cerebral Adrenoleukodystrophy	Myelopathy, Abnormal spinal cord morphology, Ankle clonus	ORPHA:139396
Hydrolethalus Syndrome 1	Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Talipes equinovarus, Duplication...	OMIM:236680
Branchiooculofacial Syndrome	Short thumb, Preaxial hand polydactyly, Branchial anomaly, Anophthalmia, Short neck, Hyperlordosi...	OMIM:113620
Pseudoaminopterin Syndrome	Slender finger, Synostosis of carpal bones, Short thumb, Overlapping toe, Clinodactyly of the 4th...	ORPHA:221120
Acrorenal-Mandibular Syndrome	Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Elbow flexion contracture, Rudimentary ...	OMIM:200980
Arima Syndrome	Optic atrophy, Postaxial foot polydactyly, Chorioretinal coloboma, Postaxial hand polydactyly, Oc...	OMIM:243910
Mosaic Trisomy 20	Clinodactyly, Spinal canal stenosis, Vertebral segmentation defect, Abnormal spinal cord morpholo...	ORPHA:1724
Orofaciodigital Syndrome I	Clinodactyly, Radial deviation of finger, Myelomeningocele, Polydactyly, Hydrocephalus, Brachydac...	OMIM:311200
Joubert Syndrome 37	Postaxial polydactyly	OMIM:619185
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Mend Syndrome	Broad hallux, Overlapping toe, Overlapping fingers, Polydactyly, 2-3 toe syndactyly, Hydrocephalu...	OMIM:300960
Adnp Syndrome	Broad thumb, Sandal gap, Broad hallux, Umbilical hernia, Single transverse palmar crease, Polydac...	ORPHA:404448
Bardet-Biedl Syndrome 1	Postaxial foot polydactyly, Radial deviation of finger, Postaxial polydactyly, Brachydactyly, Pos...	OMIM:209900
Chondrodysplasia Punctata 2, X-Linked Dominant	Abnormal pelvic girdle bone morphology, Rhizomelia, Hemiatrophy, Stippled calcification in carpal...	OMIM:302960
Cranioectodermal Dysplasia 3	Rhizomelia, 2-4 toe syndactyly, Sandal gap, Postaxial polydactyly, 2-3 toe syndactyly, Brachydactyly	OMIM:614099
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Postaxial polydactyly	OMIM:615824
Au-Kline Syndrome	Overlapping toe, Syringomyelia, Postaxial polydactyly, Deep palmar crease, Lipomyelomeningocele, ...	OMIM:616580
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Hip contracture, Bowing ...	OMIM:210710
Oeis Complex	Absence of the sacrum, Myelomeningocele, Talipes equinovarus, Hydrocephalus, Hemivertebrae, Sacra...	OMIM:258040
Senior-Loken Syndrome 8	Polydactyly	OMIM:616307
Choanal Atresia	Polydactyly	ORPHA:137914
Meckel Syndrome, Type 1	Postaxial foot polydactyly, Occipital encephalocele, Clinodactyly, Radial deviation of finger, Ca...	OMIM:249000
Bardet-Biedl Syndrome 20	2-3 toe syndactyly, Preaxial foot polydactyly, Postaxial polydactyly, Postaxial hand polydactyly	OMIM:619471
Orofaciodigital Syndrome V	Postaxial polydactyly, Postaxial foot polydactyly, Sandal gap, Postaxial hand polydactyly	OMIM:174300
Tarp Syndrome	Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Single transverse palmar crease, ...	ORPHA:2886
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Small hand, Postaxial polydactyly, Hip dysplasia, Short foot, Hip dislocation, Tapered finger	OMIM:300968
Miller-Dieker Lissencephaly Syndrome	Joint contracture of the hand, Single transverse palmar crease, Polydactyly, Deep palmar crease, ...	OMIM:247200
Adrenomyeloneuropathy	Leg muscle stiffness, Distal lower limb muscle weakness, Dorsal column degeneration, Atrophy of t...	ORPHA:139399
Stromme Syndrome	Preaxial polydactyly, Hydrocephalus, Stillbirth	OMIM:243605
Holoprosencephaly 7	Alobar holoprosencephaly, Semilobar holoprosencephaly, Bilateral microphthalmos, Hydrocephalus, M...	OMIM:610828
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Bilateral talipes equinovarus, Pes valgus, Equinus calcaneus, 2-3 toe syndactyly	ORPHA:522077
Microphthalmia, Syndromic 6	Toe syndactyly, Finger syndactyly, Thumb contracture, Anophthalmia, Polydactyly, Brachydactyly, M...	OMIM:607932
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly	ORPHA:314655
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Osteogenesis Imperfecta	Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Bowing of the long bones, Di...	ORPHA:666
Kinsship Syndrome	Single transverse palmar crease, Polydactyly, Fibular hypoplasia, Coxa valga, Dislocated radial h...	OMIM:619297
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Single transverse palmar crease, Postaxial polydactyly, Palmoplantar hyperhidrosis, Long fingers,...	OMIM:617527
Carpenter Syndrome 2	Broad thumb, Umbilical hernia, Preaxial polydactyly, Cutaneous finger syndactyly, Bilateral posta...	OMIM:614976
Monosomy 9Q22.3	Polydactyly, Palmar pits, Hydrocephalus, Umbilical hernia	ORPHA:77301
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Clinodactyly of the 5th finger	ORPHA:457284
Superficial Siderosis	Abnormality of the vestibulocochlear nerve, Abnormality of the brachial nerve plexus, Atrophy of ...	ORPHA:247245
Schinzel-Giedion Syndrome	Short distal phalanx of finger, Short 1st metacarpal, Umbilical hernia, Overlapping toe, Overlapp...	ORPHA:798
Helsmoortel-Van Der Aa Syndrome	Small hand, Sandal gap, Prominent fingertip pads, Short 4th toe, Broad hallux, Genu valgum, Polyd...	OMIM:615873
Acute Disseminated Encephalomyelitis	Optic neuritis, Myelitis, Abnormal spinal cord morphology	ORPHA:83597
Dyrk1A-Related Intellectual Disability Syndrome	Toe syndactyly, Polydactyly, Arachnodactyly, Hallux valgus, Clinodactyly of the 5th finger, Acrom...	ORPHA:464306
Semilobar Holoprosencephaly	Abnormality of the autonomic nervous system, Hydrocephalus, Cyclopia, Hip dislocation, Neural tub...	ORPHA:220386
Alobar Holoprosencephaly	Abnormality of the autonomic nervous system, Hydrocephalus, Cyclopia, Hip dislocation, Neural tub...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Abnormality of the autonomic nervous system, Hydrocephalus, Cyclopia, Hip dislocation, Neural tub...	ORPHA:93926
Lobar Holoprosencephaly	Abnormality of the autonomic nervous system, Hydrocephalus, Cyclopia, Hip dislocation, Neural tub...	ORPHA:93924
3Mc Syndrome 3	Radioulnar synostosis, Clinodactyly, Preaxial polydactyly	OMIM:248340
Tetrasomy 9P	Hypoplastic scapulae, Small hand, Umbilical hernia, Micrognathia, Bilateral single transverse pal...	ORPHA:3310
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micromelia, Preaxial hand polydactyly, Campto...	ORPHA:2753
Microphthalmia, Syndromic 1	Clinodactyly, Prominent fingertip pads, Radial deviation of finger, Lumbar hyperlordosis, Anophth...	OMIM:309800
Khan-Khan-Katsanis Syndrome	Postaxial polydactyly, Tethered cord, Clinodactyly	OMIM:618460
Loeys-Dietz Syndrome 2	Joint contracture of the hand, Dural ectasia, Umbilical hernia, Absent distal phalanges, Arachnod...	OMIM:610168
Pallister-Hall Syndrome	Toe syndactyly, Broad thumb, Radial bowing, Supernumerary metacarpal bones, Umbilical hernia, Pol...	ORPHA:672
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly	ORPHA:163681
Cranioectodermal Dysplasia 2	Rhizomelia, Clinodactyly, Polydactyly, Brachydactyly, Postaxial hand polydactyly, Mesomelia, Synd...	OMIM:613610
Culler-Jones Syndrome	Postaxial polydactyly	OMIM:615849
Myhre Syndrome	Platyspondyly, Clinodactyly, Short toe, Short finger, Radial deviation of finger, Enlarged verteb...	OMIM:139210
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Broad distal phalanx of finger, Broad thumb, Broad hallux, Abnormal proximal phalanx morphology o...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Broad distal phalanx of finger, Broad thumb, Broad hallux, Abnormal proximal phalanx morphology o...	ORPHA:353277
Legius Syndrome	Clinodactyly of the 5th finger, Polydactyly	ORPHA:137605
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short femur, Short humerus, Polydactyly	ORPHA:17
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Ectopia pupillae, Long hallux, Genu valgum, Axenfeld anomaly, Arachnodactyly, Pes planus, Iris co...	ORPHA:261552
Amoebiasis Due To Free-Living Amoebae	Corneal perforation, Conjunctival hyperemia, Abnormal spinal cord morphology, Facial palsy, Corne...	ORPHA:68
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Short 5th toe, 2-4 toe cutaneous syndactyly, Polydactyly, Hallux valgus, Abnormal toe morphology,...	ORPHA:268261
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Cataract, Broad hallux, Retinal coloboma, Long hallux, Genu valgum, Astigmatism, Axenfeld anomaly...	ORPHA:261537
Lacrimoauriculodentodigital Syndrome 1	Bilateral triphalangeal thumbs, Short thumb, Broad hallux, Preaxial polydactyly, Radial deviation...	OMIM:149730
Loeys-Dietz Syndrome 1	Dural ectasia, Arachnodactyly, Talipes equinovarus, Postaxial polydactyly, Hydrocephalus, Postaxi...	OMIM:609192
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Cone-shaped epiphysis, Postaxial polydactyly, Short clavicles, Brachydactyly, Short long bone, Po...	OMIM:617088
Rabson-Mendenhall Syndrome	Polydactyly	ORPHA:769
Degcags Syndrome	Toe syndactyly, Short thumb, Preaxial hand polydactyly, Genu valgum, Polydactyly, Talipes equinov...	OMIM:619488
Simpson-Golabi-Behmel Syndrome, Type 1	Short distal phalanx of finger, Broad thumb, Umbilical hernia, Short finger, Short greater sciati...	OMIM:312870
Faciocardiomelic Syndrome	Hypoplastic pelvis, Slender long bone, Polydactyly	OMIM:612731
Mowat-Wilson Syndrome	Cataract, Broad hallux, Retinal coloboma, Genu valgum, Astigmatism, Axenfeld anomaly, Aganglionic...	ORPHA:2152
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Postaxial polydactyly, Talipes equinovarus, Branchial anomaly, Hip dysplasia	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Postaxial polydactyly, Talipes equinovarus, Branchial anomaly, Hip dysplasia	ORPHA:352665
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Broad hallux, Preaxial polydactyly, Postaxial hand polydactyly, Holopros...	OMIM:615948
Okamoto Syndrome	Syringomyelia, Hip dysplasia, Tethered cord, Polydactyly	ORPHA:2729
Primary Sjögren Syndrome	Corneal perforation, Optic neuritis, Keratoconjunctivitis sicca, Abnormal spinal cord morphology,...	ORPHA:289390
Alstrom Syndrome	Polydactyly	OMIM:203800
Neurocardiofaciodigital Syndrome	Polydactyly, Syndactyly	OMIM:619869
Combined Pituitary Hormone Deficiencies, Genetic Forms	Holoprosencephaly, Abnormal digit morphology, Polydactyly	ORPHA:95494
Mullegama-Klein-Martinez Syndrome	Clinodactyly of the 5th finger, Polydactyly	OMIM:301022
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Slender finger, Small hand, Congenital hip dislocation, Overlapping toe, Postaxial polydactyly, C...	ORPHA:480880
Biliary, Renal, Neurologic, And Skeletal Syndrome	Broad thumb, Neonatal death, Broad first metatarsal, Polydactyly, Postaxial polydactyly, Hydrocep...	OMIM:619534
Bardet-Biedl Syndrome	Fifth finger distal phalanx clinodactyly, Finger syndactyly, Postaxial polydactyly, Talipes equin...	ORPHA:110

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

X-ray

X-ray

Echo

Adult LacZ

X-ray

MicroCT E14.5-E15.5

Embryo LacZ

MicroCT E18.5

Auditory Brain Stem Response

Human diseases caused by Rab23 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data