Gene Summary

Name:
RAB23, member RAS oncogene family
Synonyms:
N/A

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased bone mineral content Rab23tm1b(EUCOMM)Wtsi HET Early adult 3.20×10-05
decreased lean body mass Rab23tm1b(EUCOMM)Wtsi HET Early adult 3.78×10-05
increased circulating aspartate transaminase level Rab23tm1b(EUCOMM)Wtsi HET Early adult 2.82×10-05
increased circulating alanine transaminase level Rab23tm1b(EUCOMM)Wtsi HET Early adult 1.60×10-07
increased mean platelet volume Rab23tm1b(EUCOMM)Wtsi HET Early adult 1.33×10-05
preweaning lethality, complete penetrance Rab23tm1b(EUCOMM)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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Select physiological systems to view:
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

Echo

M-Mode Images

32 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

MicroCT E14.5-E15.5

Embryo reconstruction

3 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

MicroCT E18.5

Embryo reconstruction

1 Images

Embryo LacZ

LacZ images wholemount

8 Images

Auditory Brain Stem Response

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

4 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.

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

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

Disease Similarity of
phenotypes
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