Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
inturned planar cell polarity protein
Synonyms:
Pdzk6,  9230116I04Rik,  Pdzd6,  9430087H23Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Intu 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 Intu by orthology or direct annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Digital Clubbing, Isolated Congenital
Clubbing OMIM:119900
Tendons, Extensor, Of Fingers, Anomalous Insertion Of
Abnormality of finger OMIM:187390
Trigger Thumb
Abnormal thumb morphology OMIM:190410
Syndactyly Type 2
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... ORPHA:93403
Polydactyly, Postaxial, Type A6
Postaxial hand polydactyly, Broad phalanges of the 5th finger OMIM:615226
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Polydactyly, Postaxial, Type A9
Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:618219
Polydactyly, Postaxial, Type A10
Postaxial polydactyly type A, Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:618498
Oliver Syndrome
Postaxial hand polydactyly OMIM:258200
Polydactyly, Postaxial, Type A2
Postaxial hand polydactyly OMIM:602085
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Syndactyly, Type Iv
1-5 finger syndactyly, 2-3 toe syndactyly, Triphalangeal thumb, Polydactyly, Postaxial polydactyl... OMIM:186200
Polydactyly, Preaxial I
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... OMIM:174400
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Broad thumb OMIM:174200
Syndactyly-Polydactyly-Earlobe Syndrome
1-2 toe complete cutaneous syndactyly, Broad toe, Preaxial hand polydactyly, Bifid distal phalanx... OMIM:186350
Polydactyly, Preaxial Iv
3-4 finger syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, Dy... OMIM:174700
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Duplication of phalanx of hallux, Syndactyly, Postaxial foot polyd... OMIM:174500
Brachydactyly, Type C
Short middle phalanx of finger, Talipes equinovarus, Short 1st metacarpal, Brachydactyly, Pseudoe... OMIM:113100
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Hallux varus, Broad hallux OMIM:234280
Synpolydactyly 1
4-5 toe syndactyly, 3-4 finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Finger synda... OMIM:186000
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Postaxial hand polydactyly, Metacarpal synostosis OMIM:263450
Banki Syndrome
Radial deviation of finger, Clinodactyly OMIM:109300
Acrocephalopolysyndactyly Type Iv
Ulnar deviation of the hand or of fingers of the hand, Joint contracture of the hand, Radial devi... OMIM:201020
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome
Postaxial hand polydactyly ORPHA:1566
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Polydactyly, Brachydactyly OMIM:617405
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Santos Syndrome
Metatarsus adductus, Polydactyly, Talipes equinovarus, Postaxial polydactyly, Genu valgum, Preaxi... OMIM:613005
Scalp Defects And Postaxial Polydactyly
Postaxial polydactyly type A OMIM:181250
Congenital Radioulnar Synostosis
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... ORPHA:3269
Ectrodactyly-Polydactyly Syndrome
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Abnormality of the metacarp... ORPHA:1892
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... ORPHA:93405
Ectrodactyly-Polydactyly
Split hand, Postaxial hand polydactyly, Split foot OMIM:225290
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, Short 5th finger, 4-5 finger syndactyly OMIM:186100
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Brachydactyly, Short thumb, Short 2nd toe, Postaxial hand polydactyly OMIM:176305
Synpolydactyly 2
Tarsal synostosis, Toe syndactyly, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... OMIM:608180
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly OMIM:605967
Polydactyly, Postaxial, With Progressive Myopia
Postaxial hand polydactyly OMIM:174310
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Proximal placement of hallux, Absent middle phalanx of 2nd finger, Absent middle phalanx of 5th f... OMIM:218530
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Hallux valgus, Adducted thumb, Postaxial polydactyly, Short thumb, Overlapping fingers, Short dis... OMIM:618167
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Polydactyly OMIM:188740
Gombo Syndrome
Microphthalmia, Abnormal heart morphology, Radial deviation of finger, Brachydactyly, Clinodactyl... OMIM:233270
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Broad palm, Rhizomelia, Short foot, Short metacarpal, Mesomelia, Postaxial hand polydactyly, Brac... OMIM:611263
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Postaxial Tetramelic Oligodactyly
Oligodactyly, Ectrodactyly, Abnormality of the metacarpal bones, Abnormality of finger ORPHA:2730
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Absent fifth metatarsal, Radial bowing, Cone-shaped epiphysis, Lun... OMIM:176240
Triphalangeal Thumbs With Brachyectrodactyly
Triphalangeal thumb, Split hand, Short 3rd toe, Short 2nd finger, Brachydactyly, Split foot OMIM:190680
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Syndactyly, Upper limb phocomelia, Polydactyly ORPHA:294975
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Triphalangeal thumb, Postaxial hand polydactyly ORPHA:2091
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Bilateral triphalangeal thumbs, Preaxial foot polydactyly, Postaxial hand polydactyly OMIM:138790
Bardet-Biedl Syndrome 6
Syndactyly, Polydactyly OMIM:605231
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Legg-Calvé-Perthes Disease
Joint dislocation, Cartilage destruction, Short stature ORPHA:2380
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Clinodactyly, Polydactyly, Postaxial polydactyly OMIM:615984
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Syndactyly, Camptodactyly, Oligodactyly, Short digit, Short phalanx of finger,... OMIM:610713
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of the phalanges of the toes, Triphalangeal thumb, Aplasia/Hypoplasia of metat... OMIM:605289
Split-Hand/Foot Malformation 6
Toe syndactyly, Hand oligodactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot OMIM:225300
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Rocker bottom foot, Talipes equinovarus, Edema, Microcephaly OMIM:616570
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Talipes equinovarus, Hand clenching, Neonatal death, Hip dysplasia, Abnormal ... OMIM:611890
Split-Hand/Foot Malformation 2
Split hand, Finger syndactyly, Short metacarpal, Short phalanx of finger, Split foot OMIM:313350
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Hypoplasia of the ulna, Syndactyly, Split foot, Short finger OMIM:314360
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
Tetramelic Monodactyly
Foot monodactyly, Hand monodactyly, Split foot, Split hand OMIM:187510
Meckel Syndrome, Type 11
Polydactyly OMIM:615397
Tetramelic Monodactyly
Oligodactyly, Split hand ORPHA:2564
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Talipes equinovarus, Split hand, Oligodactyly, Ectrodactyly, Brachydactyly OMIM:612576
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Severe short stature, Coxa ... OMIM:618728
Orofaciodigital Syndrome Xviii
Short middle phalanx of finger, Postaxial polydactyly, Preaxial polydactyly, Genu valgum, Sandal ... OMIM:617927
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Cortical dysplasia, Polymicrogyria, Microcephaly OMIM:615771
Ulnar Hemimelia
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... ORPHA:93320
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Preaxial foot polydactyly, Polysyndactyly of hallux OMIM:235750
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Microphthalmia, Polydactyly, Megalencephaly, Cavum septum pellucidum, ... OMIM:602501
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occulta, Micr... ORPHA:64754
Heart-Hand Syndrome Type 2
Abnormality of the ulna, Short 5th metacarpal, Abnormality of the elbow, Aplasia/Hypoplasia of th... ORPHA:1350
Carpenter Syndrome
Toe syndactyly, Polydactyly, Talipes equinovarus, Finger syndactyly, Genu valgum, Brachydactyly, ... ORPHA:65759
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle atrophy, Hand muscle weakness, Abnormal lower motor neuron morphology OMIM:607641
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Short stature, Metaphyseal irregularity, Streaky metaphyseal sclerosis, Carpal bone hypoplasia, I... OMIM:603546
Camptobrachydactyly
Congenital finger flexion contractures, Short toe, Syndactyly, Hand polydactyly, Brachydactyly OMIM:114150
Laurin-Sandrow Syndrome
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Short fo... OMIM:135750
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Abnormal anterior horn cell morphology OMIM:183020
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Leukoencephalopathy, Abnormal motor neuron morphology, Abnormality of thalamus morph... OMIM:613724
Bardet-Biedl Syndrome 4
Syndactyly, Polydactyly, Brachydactyly OMIM:615982
Bardet-Biedl Syndrome 19
Polydactyly OMIM:615996
Meckel Syndrome, Type 4
Meningocele, Ventricular septal defect, Microphthalmia, Anencephaly, Bowing of the long bones, At... OMIM:611134
Mmep Syndrome
Ventricular septal defect, Microphthalmia, Triphalangeal thumb, Microcephaly, Split foot ORPHA:3434
Feingold Syndrome 2
2-3 toe syndactyly, Short stature, 3-4 toe syndactyly, Short middle phalanx of the 5th finger, Sh... OMIM:614326
Short Stature, Dauber-Argente Type
Short stature, Decreased fibular diameter, Long fingers, Arachnodactyly, Osteopenia, Reduced bone... OMIM:619489
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... OMIM:228930
Spondyloepiphyseal Dysplasia Tarda
Abnormality of the tibial plateaux, Dysplasia of the femoral head, Knee osteoarthritis, Increased... ORPHA:93284
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Microcephaly OMIM:616335
Meckel Syndrome, Type 2
Meningocele, Microphthalmia, Polydactyly, Anencephaly, Bowing of the long bones, Postaxial hand p... OMIM:603194
Biemond Syndrome Type 2
Hypospadias, Short stature, Preaxial polydactyly, Hydrocephalus, Delayed puberty ORPHA:141333
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Short Stature, Brussels Type
Horseshoe kidney, Growth delay, Short stature, Delayed epiphyseal ossification, Calcification of ... ORPHA:2867
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... ORPHA:3332
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Amyotrophic Lateral Sclerosis 4, Juvenile
Pallor of dorsal columns of the spinal cord, Amyotrophic lateral sclerosis, Abnormal lower motor ... OMIM:602433
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia, Neural tube defect OMIM:600776
Joubert Syndrome 18
Horseshoe kidney, Intrauterine growth retardation, Polydactyly, Camptodactyly, Joint laxity OMIM:614815
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Foot polydactyly, Postaxial hand polydactyly ORPHA:2155
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... ORPHA:2098
Laurin-Sandrow Syndrome
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Aplasia/Hypoplasia of the t... ORPHA:2378
Bardet-Biedl Syndrome 9
Polydactyly, Postaxial polydactyly, Syndactyly, Postaxial foot polydactyly, Postaxial hand polyda... OMIM:615986
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Orofaciodigital Syndrome Type 10
Fibular aplasia, Tarsal synostosis, Mesomelic leg shortening, Polysyndactyly of hallux, Metatarsa... ORPHA:2756
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Joint contracture of the hand, Abnormal lower motor neuron morphology, Talipes equinovarus OMIM:611067
Orofaciodigital Syndrome Vi
Toe syndactyly, Postaxial polydactyly, Radial deviation of finger, Brachydactyly, Central Y-shape... OMIM:277170
Congenital Toxoplasmosis
Microphthalmia, Ascites, Cardiomegaly, Hydrocephalus, Cerebral calcification, Microcephaly ORPHA:858
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Postaxial polydactyly, Short metatarsal, Limb undergrowth, Sandal gap, Short metacarpal, Short di... OMIM:617102
Ollier Disease
Abnormality of the metaphysis, Osteolysis, Abnormal cartilage morphology, Joint stiffness, Microm... ORPHA:296
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Polydactyly, Short stature, Delayed closure of the anterior fontanelle, Upper limb asymmetry, Pos... ORPHA:231140
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Leukoencephalopathy, Cerebral atrophy, Basal ganglia calcification, Hypoplasia o... OMIM:221770
Mend Syndrome
2-3 toe syndactyly, Polydactyly, Short stature, Long fingers, Overlapping fingers, Hydrocephalus,... OMIM:300960
Orofaciodigital Syndrome Xvii
Renal hypoplasia, Polydactyly, Short stature, Prominent metopic ridge, Micropenis, Partial duplic... OMIM:617926
Xk Aprosencephaly Syndrome
Ventricular septal defect, Microphthalmia, Abnormal morphology of the radius, Polyhydramnios, Atr... ORPHA:3469
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal motor neuron morphology, Ubiquitin-positive cerebral inclusion bodies, Amyotrophic later... ORPHA:52430
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Hypospadias, Short ribs, Reduced bone mineral density, Urogenital sinu... ORPHA:1505
Tibial Aplasia-Ectrodactyly Syndrome
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... ORPHA:3329
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Type II lissencephaly, Hydrocephalus OMIM:614830
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnormal upper motor neuro... OMIM:614373
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly, Anophthalmia, Microphthalmia, Bilateral microphthalmos OMIM:611638
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Nanophthalmos 4
Microphthalmia OMIM:615972
Craniotelencephalic Dysplasia
Arrhinencephaly, Microphthalmia, Septo-optic dysplasia, Hydrocephalus, Lissencephaly, Agenesis of... ORPHA:1528
Hydrolethalus Syndrome 2
Preaxial polydactyly, Postaxial polydactyly OMIM:614120
Joubert Syndrome 17
Syndactyly, Polydactyly OMIM:614615
Frontonasal Dysplasia 1
Microphthalmia, Joint contracture of the hand, Radial deviation of finger, Pericallosal lipoma, T... OMIM:136760
2Q24 Microdeletion Syndrome
Toe syndactyly, Microphthalmia, Hand clenching, Long fingers, Bullet-shaped distal phalanx of the... ORPHA:1617
Frontotemporal Dementia With Motor Neuron Disease
Neuronal loss in the cerebral cortex, Abnormal mitochondrial morphology, Abnormal lower motor neu... ORPHA:275872
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Megalencephaly, Postaxial polydactyly, Thick corpus callosum, Abnormal... OMIM:603387
Hartsfield Syndrome
Microphthalmia, Lobar holoprosencephaly, Aplasia/Hypoplasia of the radius, Split hand, Aplasia/Hy... ORPHA:2117
Joubert Syndrome 23
Polydactyly OMIM:616490
Kniest Dysplasia
Hip contracture, Flattened, squared-off epiphyses of tubular bones, Delayed epiphyseal ossificati... OMIM:156550
Lethal Kniest-Like Dysplasia
Broad long bones, Abnormal cartilage matrix, Anterior rib cupping, Talipes equinovarus, Severe sh... ORPHA:2347
Primary Lateral Sclerosis, Juvenile
Cerebral cortical atrophy, Abnormal upper motor neuron morphology OMIM:606353
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Rocker bottom foot, Second metatarsal posteriorly placed, Elbow flexion contractu... OMIM:214150
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Decreased calvarial ossification, 2-3 toe syndactyly, Radial bowing, Postaxial polydactyly, Ulnar... OMIM:617866
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Lissencephaly, Left ventricular hypertrophy, Pachygyria, Hydrocephalus, Agyria, A... OMIM:613153
Nephronophthisis 15
Polydactyly OMIM:614845
Orofaciodigital Syndrome Viii
Syndactyly, Polydactyly, Short tibia OMIM:300484
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
2-3 toe syndactyly, Lens coloboma, Microphthalmia, Umbilical hernia, Sandal gap, Pulmonic stenosi... OMIM:618914
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Polydactyly, Hypoplastic scapulae, Postaxial polydactyly, Short st... OMIM:614091
Tibial Hemimelia
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... ORPHA:93322
Meckel Syndrome, Type 8
Microphthalmia, Polydactyly, Talipes equinovarus, Anophthalmia, Postaxial hand polydactyly, Micro... OMIM:613885
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregularity, Hypoplas... OMIM:608940
Hydrolethalus
Arrhinencephaly, Microphthalmia, Anencephaly, Anophthalmia, Polyhydramnios, Absent septum pelluci... ORPHA:2189
Orofaciodigital Syndrome Xv
Broad hallux, Postaxial polydactyly OMIM:617127
Amyotrophic Lateral Sclerosis 2, Juvenile
Hand muscle atrophy, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnor... OMIM:205100
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Horizontal ribs, Nephrocalcinosis, Postaxial polydactyly, Short long bone, Brachydactyly OMIM:615633
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect, Microphthalmia, Abnormality of epiphysis morphology, Bowing of the lon... ORPHA:93267
Mosaic Trisomy 9
Dextrocardia, Ventricular septal defect, Microphthalmia, Talipes equinovarus, Rocker bottom foot,... ORPHA:99776
Pelvis-Shoulder Dysplasia
Hydranencephaly, Talipes equinovarus, Absent proximal finger flexion creases, Prominent protrudin... ORPHA:2839
Atelosteogenesis, Type Ii
Short middle phalanx of finger, Short greater sciatic notch, Talipes equinovarus, Limb undergrowt... OMIM:256050
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Three M Syndrome 1
Hypospadias, Intrauterine growth retardation, Growth delay, Short stature, Joint dislocation, Sho... OMIM:273750
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypospadias, Intrauterine growth retardation, Polydactyly, Hypoplastic ischia OMIM:616910
17Q12 Microduplication Syndrome
Toe syndactyly, Microphthalmia, Polyhydramnios, Finger syndactyly, Atrial septal defect, Cortical... ORPHA:261272
Neu-Laxova Syndrome 1
Joint contracture of the hand, Small placenta, Finger syndactyly, Patent ductus arteriosus, Campt... OMIM:256520
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Broad hallux phalanx, Broad thumb, Finger syndactyly, Pachygyria, Mac... ORPHA:2211
Silver-Russell Syndrome Due To A Point Mutation
Hypospadias, Intrauterine growth retardation, Polydactyly, Small placenta, Short 5th finger, Synd... ORPHA:397590
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Polydactyly, Short stature, Short ribs, Stage 5 chronic kidney disease, Short long bone, Brachyda... OMIM:613819
Cousin Syndrome
2-3 toe syndactyly, Talipes equinovarus, Prominent protruding coccyx, Joint contracture of the ha... OMIM:260660
Joubert Syndrome 20
Syndactyly, Postaxial polydactyly OMIM:614970
Craniotelencephalic Dysplasia
Arrhinencephaly, Microphthalmia, Optic nerve hypoplasia, Absent septum pellucidum, Lissencephaly,... OMIM:218670
Adams-Oliver Syndrome
Abnormal pulmonary valve morphology, Microphthalmia, Ascites, Abnormality of the upper limb, Fing... ORPHA:974
Congenital Varicella Syndrome
Microcephaly, Microphthalmia, Micromelia, Cerebral cortical atrophy ORPHA:291
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Simplified gyral pattern, Microphthalmia, Microcephaly, Cerebral atrophy OMIM:616171
Pierpont Syndrome
Abnormal cortical gyration, Microphthalmia, Short finger, Primary microcephaly, Short toe, Excess... ORPHA:487825
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Intrauterine growth retardation, Thin ribs, Growth de... ORPHA:93324
Cofs Syndrome
Microphthalmia, Camptodactyly of finger, Cerebral calcification, Cerebral cortical atrophy, Micro... ORPHA:1466
Larsen-Like Syndrome, Lethal Type
Abnormal cartilage matrix, Multiple joint dislocation, Neonatal death, Joint dislocation, Tracheo... OMIM:245650
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Hypospadias, Short stature, Short metatarsal, Short ribs, Postnatal... OMIM:304120
Ivic Syndrome
Upper limb undergrowth, Short clavicles, Triphalangeal thumb, Small thenar eminence, Hypoplasia o... OMIM:147750
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Type II lissencephaly, Hydrocephalus ORPHA:324416
Hypomelia With Mullerian Duct Anomalies
Postaxial hand polydactyly, Split hand OMIM:146160
Pierpont Syndrome
Broad palm, Microphthalmia, Short finger, Short foot, Short palm, Short toe, Deep palmar crease, ... OMIM:602342
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Hypoplastic iliac wing, Metaphyseal cupping of metacarpals, Rhizomelia, Distal sh... OMIM:300863
Joubert Syndrome 40
Postaxial polydactyly OMIM:619582
Chromosome 1Q41-Q42 Deletion Syndrome
Holoprosencephaly, Microcephaly, Microphthalmia, Talipes equinovarus OMIM:612530
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Short finger, Foot polydactyly, Brachydactyly, Hand polyda... OMIM:258860
Cerebrooculofacioskeletal Syndrome 2
Microcephaly, Microphthalmia, Rocker bottom foot, Camptodactyly of finger OMIM:610756
Bardet-Biedl Syndrome 17
Polydactyly, Mesoaxial polydactyly, Postaxial foot polydactyly, Postaxial hand polydactyly, Short... OMIM:615994
Lethal Congenital Contracture Syndrome 1
Edema, Paucity of anterior horn motor neurons, Neonatal death OMIM:253310
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Cerebral cortical atrophy OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Cerebral cortical atrophy OMIM:616437
Warburg Micro Syndrome 1
Perisylvian polymicrogyria, Microphthalmia, Overlapping toe, Cerebral atrophy, Hypoplasia of the ... OMIM:600118
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Agenesis of corpus callosum, Microcephaly, Cerebral atrophy OMIM:274270
Joubert Syndrome 10
Growth delay, Postaxial polydactyly OMIM:300804
Pelvis-Shoulder Dysplasia
Short clavicles, Microphthalmia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dis... OMIM:169550
Multiple Osteochondromas
Short lower limbs, Abnormal lower limb bone morphology, Abnormality of the knee, Femoroacetabular... ORPHA:321
Bresek Syndrome
Microphthalmia, Neonatal death, Optic nerve hypoplasia, Hydrocephalus, Postaxial hand polydactyly... ORPHA:85284
3P25.3 Microdeletion Syndrome
Ventricular septal defect, Microphthalmia, Postaxial polydactyly, Tapered finger, Cerebral white ... ORPHA:435638
Bardet-Biedl Syndrome 8
Polydactyly OMIM:615985
Progressive Non-Fluent Aphasia
Frontotemporal cerebral atrophy, Temporal cortical atrophy, Abnormal lower motor neuron morpholog... ORPHA:100070
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Horizontal ribs, Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, Postaxial polydactyly,... OMIM:613091
Mosaic Trisomy 1
Deviation of the 5th toe, Broad toe, Complete duplication of thumb phalanx, Polymicrogyria, Campt... ORPHA:1692
Temtamy Syndrome
Genu varum, Microphthalmia, Aplasia/Hypoplasia of the corpus callosum, Short toe, Clinodactyly of... ORPHA:1777
Joubert Syndrome 22
2-3 toe syndactyly, Temporal cortical atrophy, Microphthalmia, Postaxial foot polydactyly, Postax... OMIM:615665
Septooptic Dysplasia
Polydactyly, Short finger, Optic disc hypoplasia, Optic nerve hypoplasia, Absent septum pellucidu... OMIM:182230
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Clinodactyly of the 5th finger, Complete duplication of the 1st metatarsal, Preaxial polydactyly OMIM:129540
Meckel Syndrome, Type 3
Postaxial foot polydactyly, Polydactyly, Postaxial hand polydactyly OMIM:607361
Monosomy 18P
Microphthalmia, Holoprosencephaly, Brachydactyly, Microcephaly, Lymphedema ORPHA:1598
Familial Calcium Pyrophosphate Deposition
Chondrocalcinosis, Joint dislocation, Arthritis, Calcification of cartilage, Limitation of joint ... ORPHA:1416
Microphthalmia With Limb Anomalies
Toe syndactyly, Tibial bowing, Hand oligodactyly, Microphthalmia, Talipes equinovarus, Camptodact... OMIM:206920
Bardet-Biedl Syndrome 3
Brachydactyly, Postaxial polydactyly OMIM:600151
Meckel Syndrome, Type 5
Microphthalmia, Anencephaly, Bowing of the long bones, Postaxial foot polydactyly, Postaxial hand... OMIM:611561
Au-Kline Syndrome
Postaxial polydactyly, Craniosynostosis, Hip dysplasia, Deep palmar crease, Overlapping toe OMIM:616580
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Syndactyly, Clinodactyly, Brachydactyly OMIM:610023
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia, Leukoencephalopathy, Hydrocephalus, Polymicrogyria, Type ... OMIM:615181
Curry-Jones Syndrome
Cutaneous finger syndactyly, Microphthalmia, Megalencephaly, Broad thumb, Hemimegalencephaly, Syn... OMIM:601707
Kniest Dysplasia
Abnormal bone structure, Short long bone, Laryngotracheomalacia, Delayed epiphyseal ossification,... ORPHA:485
Adams-Oliver Syndrome 2
Microphthalmia, Oligohydramnios, Polymicrogyria, Cerebral atrophy, Microcephaly, Single transvers... OMIM:614219
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Cerebral atrophy OMIM:105550
Dyggve-Melchior-Clausen Disease
Genu varum, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Enlargement of the costoc... OMIM:223800
Otopalatodigital Syndrome Type 2
Hypospadias, Hydrocephalus, Increased bone mineral density, Camptodactyly of finger, Bowing of th... ORPHA:90652
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia, Abnormality of the calcaneus, Hypoplastic iliac wing, Metaphyseal cupping of meta... ORPHA:163966
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Microcephaly ORPHA:2528
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Symphalangism affecting the phalanges of the hand, Patent ductus arteriosus, Poly... ORPHA:2547
Pseudotrisomy 13 Syndrome
Dextrocardia, Complete atrioventricular canal defect, 2-3 toe syndactyly, Ventricular septal defe... OMIM:264480
Endocrine-Cerebroosteodysplasia
Hypospadias, Polydactyly, Ulnar deviation of the hand or of fingers of the hand, Postaxial polyda... OMIM:612651
Warburg Micro Syndrome 4
Perisylvian polymicrogyria, Microphthalmia, Secondary microcephaly, Hypoplasia of the corpus call... OMIM:615663
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Warburg Micro Syndrome 3
Microphthalmia, Microcephaly, Clinodactyly of the 5th finger, Polymicrogyria, Secondary microceph... OMIM:614222
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Congenital Sialidosis Type 2
Polydactyly, Ascites, Hypoplasia of the fovea, Abnormal heart morphology, Edema, Hydrocephalus, U... ORPHA:93400
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea OMIM:613703
Microcephaly-Micromelia Syndrome
Abnormality of the hand, Microphthalmia, Talipes equinovarus, Simplified gyral pattern, Absent ra... OMIM:251230
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microphthalmia, Microcephaly OMIM:614082
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Intrauterine growth retardation, Postaxial polydactyly, Preaxial polydactyly, Micropenis, Overlap... OMIM:618142
Meckel Syndrome, Type 10
Hypospadias, Anencephaly, Postaxial polydactyly, Renal cyst, Micropenis OMIM:614175
Trisomy 18
Ventricular septal defect, Microphthalmia, Anencephaly, Holoprosencephaly, Abnormality of the upp... ORPHA:3380
Duane-Radial Ray Syndrome
Aplasia of metacarpal bones, Ventricular septal defect, Triphalangeal thumb, Microphthalmia, Opti... OMIM:607323
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Infantile-Onset X-Linked Spinal Muscular Atrophy
Interphalangeal joint contracture of finger, Abnormal anterior horn cell morphology, Abnormal per... ORPHA:1145
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Talipes equinovarus, Tapered finger, Nephrolithiasis, Hip dysplasia, Postnatal growth retardation... OMIM:617219
Basal Cell Nevus Syndrome
Cardiac rhabdomyoma, Irregular ossification of hand bones, Microphthalmia, Polydactyly, Palmar pi... OMIM:109400
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly OMIM:217095
Desbuquois Dysplasia 2
Monkey wrench femoral neck, Genu varum, Epiphyseal dysplasia, Toe clinodactyly, Postnatal growth ... OMIM:615777
Pelger-Huet Anomaly
Upper limb undergrowth, Short 3rd metacarpal, Short 5th metacarpal, Polydactyly, Mild short statu... OMIM:169400
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Microphthalmia, Colpocephaly, Optic nerve hypoplasia, Hypoplasia of th... OMIM:609053
Amyotrophic Lateral Sclerosis 5, Juvenile
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology OMIM:602099
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology OMIM:105500
Joubert Syndrome 16
Polydactyly OMIM:614465
Congenital Disorder Of Glycosylation, Type Iil
Abnormal cortical gyration, Ventricular septal defect, Peau d'orange, Postaxial polydactyly, Pate... OMIM:614576
Vacterl With Hydrocephalus
Arrhinencephaly, Microphthalmia, Anophthalmia, Polyhydramnios, Hypoplasia of the radius, Hip disl... ORPHA:3412
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, 2-3 toe syndactyly, Truncus arteriosus, Broad hallux, Ventricular septal d... ORPHA:508498
Joubert Syndrome 15
Nephronophthisis, Micropenis, Polydactyly OMIM:614464
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Orofaciodigital Syndrome I
Abnormal cortical gyration, Myelomeningocele, Polydactyly, Hypothalamic hamartoma, Abnormal heart... OMIM:311200
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Abnormal upper motor neuron morphology OMIM:607694
9Q21.13 Microdeletion Syndrome
Hydronephrosis, Polydactyly, Craniosynostosis, Hip dysplasia, Postnatal growth retardation ORPHA:531151
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Hypospadias, Short middle phalanx of finger, Short 1st metacarpal, Postnatal growth retardation, ... OMIM:210720
Microphthalmia With Limb Anomalies
Arrhinencephaly, Talipes equinovarus, Finger syndactyly, Hydrocephalus, Short long bone, Short ti... ORPHA:1106
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia, Tapered finger, Long fingers, Short palm, Hypoplasia of the corpus callosum, Micr... OMIM:616734
Congenital Rubella Syndrome
Ventricular septal defect, Microphthalmia, Abnormality of the metaphysis, Patent ductus arteriosu... ORPHA:290
Pallister-Hall Syndrome
Toe syndactyly, Ventricular septal defect, Microphthalmia, Mesoaxial hand polydactyly, Oligodacty... OMIM:146510
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Bilateral microphthalmos, Cervical spina bifida OMIM:600122
Moebius Syndrome
Microphthalmia, Talipes equinovarus, Hand clenching, Lower limb undergrowth, Aplasia/Hypoplasia i... OMIM:157900
Trisomy 13
Ventricular septal defect, Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of the iris, Patent d... ORPHA:3378
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Agenesis of corpus callosum, Microphthalmia, Optic nerve hypo... ORPHA:370959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Lissencephaly, Abnormally large globe, Progressive microcephaly, Hydrocephalus, A... OMIM:615249
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Small epiphyses, Hypoplastic iliac wing, Tapered metacarpals, Tapered phalanx of finger, Short ph... OMIM:611717
Macrodactyly
Macrodactyly OMIM:155500
Chondrodysplasia Punctata 2, X-Linked Dominant
Hydronephrosis, Tarsal stippling, Polydactyly, Postaxial polydactyly, Epiphyseal stippling, Stipp... OMIM:302960
Focal Dermal Hypoplasia
Toe syndactyly, Ventricular septal defect, Short clavicles, Microphthalmia, Hypoplasia of the iri... ORPHA:2092
Hypocalcemic Vitamin D-Dependent Rickets
Genu varum, Tibial bowing, Thin bony cortex, Subperiosteal bone resorption, Enlargement of the wr... ORPHA:289157
Microphthalmia, Syndromic 12
Anophthalmia, Ventricular septal defect, Hypoplastic left atrium, Microphthalmia OMIM:615524
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Anophthalmia, Microphthalmia OMIM:221950
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Microcephaly OMIM:278780
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia, Anencephaly, Talipes equinovarus, Tapered finger, Patent ductus arteriosus, Pulmo... OMIM:619148
Tarp Syndrome
Horseshoe kidney, Hydronephrosis, Intrauterine growth retardation, Talipes equinovarus, Postaxial... OMIM:311900
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Horizontal ribs, Postaxial polydactyly, Short ribs, Hypoplasia of the radius, Syndactyly, Microme... OMIM:617895
Curry-Jones Syndrome
Toe syndactyly, Microphthalmia, Abnormality of thumb phalanx, Finger syndactyly, Foot polydactyly... ORPHA:1553
Acromelic Frontonasal Dysostosis
Polydactyly, Talipes equinovarus, Preaxial polydactyly, Syndactyly, Hypopituitarism, Hypoplasia o... OMIM:603671
Nanophthalmos
Microphthalmia ORPHA:35612
Sandestig-Stefanova Syndrome
Microphthalmia, Rocker bottom foot, Perimembranous ventricular septal defect, Primary microcephal... OMIM:618804
Chromosome 3Pter-P25 Deletion Syndrome
Short stature, Tapered finger, Postaxial polydactyly, Postnatal growth retardation, Prominent met... OMIM:613792
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Toe syndactyly, Microphthalmia, Talipes equinovarus, Patent ductus arterios... ORPHA:250989
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Foot polydactyly, Split hand, Phocomelia ORPHA:3004
Rhombencephalosynapsis
Fusion of the left and right thalami, Polydactyly, Septo-optic dysplasia, Complete duplication of... ORPHA:59315
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Japanese Encephalitis
Talipes equinovarus, Abnormal cerebral morphology, Abnormal caudate nucleus morphology, Abnormal ... ORPHA:79139
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Abnormal cerebral white matter morphology OMIM:263570
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Hip dislocation, Bilateral microphthalmos OMIM:608763
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Amyotrophic lateral sclerosis, Proximal muscle weakness in upper limbs, Abnormal lower motor neur... OMIM:613954
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology ORPHA:2590
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Simplified gyral pattern, Pachygyria, Cerebral atrophy, Microcephaly OMIM:251270
Gracile Bone Dysplasia
Microphthalmia, Ascites, Aniridia, Hydrocephalus, Slender long bone, Flared metaphysis, Brachydac... OMIM:602361
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Microphthalmia, Holoprosencephaly, Anophthalmia, Patent ductus arterio... ORPHA:77298
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Congenital hip dislocation, Hypoplasia of the corpus callosum, Agen... OMIM:164180
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
2-3 toe syndactyly, Ventricular septal defect, Microphthalmia, Postaxial polydactyly, Abnormal he... ORPHA:404440
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Oculofaciocardiodental Syndrome
Broad palm, 2-3 toe syndactyly, Mitral valve prolapse, Microphthalmia, Hammertoe, Cubitus valgus,... ORPHA:2712
Cerebrooculofacioskeletal Syndrome 4
Adducted thumb, Rocker bottom foot, Flexion contracture of toe, Dislocated radial head, Simplifie... OMIM:610758
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Triangular shaped distal phalanges of the hand, Abnormal diaphysis morphology, Generalized bone d... ORPHA:73230
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Cerebral cortical atrophy, Camptodactyly of finger ORPHA:48431
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Abnormal cartilage matrix, Intrauterine growth retardation, Talipes equinovarus, Epiphyseal stipp... ORPHA:86822
Cole-Carpenter Syndrome 2
Thin ribs, Short stature, Wormian bones, Osteopenia, Narrow iliac wing, Postnatal growth retardat... OMIM:616294
Heart And Brain Malformation Syndrome
Ventricular septal defect, Microphthalmia, Hand clenching, Polyhydramnios, Aplasia/Hypoplasia of ... OMIM:616920
Basel-Vanagaite-Smirin-Yosef Syndrome
Dilated third ventricle, 2-3 toe syndactyly, Ventricular septal defect, Microphthalmia, Adducted ... ORPHA:464738
Mullegama-Klein-Martinez Syndrome
Polydactyly, Hypoplastic left heart, Abnormal cardiac septum morphology, Clinodactyly of the 5th ... OMIM:301022
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Short stature, Postaxial polydactyly, Short ribs, Preaxial polydactyly, Brachydactyly, Syndactyly... OMIM:615503
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Microphthalmia, Hypoplasia of the iris, Subvalvular aortic stenosis, A... OMIM:613001
Joubert Syndrome 14
Microphthalmia, Hydrocephalus, Postaxial polydactyly OMIM:614424
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Proximal femoral metaphyseal irregularity, Dilated third ventricle, Abnormal acetabu... ORPHA:397715
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Intellectual Developmental Disorder, Autosomal Dominant 23
Hypospadias, Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly OMIM:615761
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Intrauterine growth retardation, Proximal renal tubular acidosis, Postaxial polydactyly OMIM:615824
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Anencephaly, Postaxial polydactyly, Aplastic clavicle, Polyhydramnios, Preaxial polydactyly, Atri... OMIM:616546
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Absent tibia, Talipes equinovarus, Short metatarsal, Proximal placement of thumb, Hypoplasia of t... OMIM:609945
20P13 Microdeletion Syndrome
Polydactyly, Finger syndactyly, Wide anterior fontanel, Clinodactyly, Brachydactyly ORPHA:313781
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Microphthalmia, Cardiomegaly, Patent ductus arteriosus, Atrial septal ... OMIM:618652
Walker-Warburg Syndrome
Abnormal cortical gyration, Microphthalmia, Anophthalmia, Absent septum pellucidum, Pachygyria, M... ORPHA:899
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Meckel Syndrome, Type 1
Agenesis of corpus callosum, Anencephaly, Microphthalmia, Bowing of the long bones, Clinodactyly,... OMIM:249000
Baraitser-Winter Syndrome 1
Bicuspid aortic valve, Microphthalmia, Duplication of phalanx of hallux, Patent ductus arteriosus... OMIM:243310
Yunis-Varon Syndrome
Arrhinencephaly, Short middle phalanx of finger, Syndactyly, Hydrocephalus, Short toe, Abnormal p... ORPHA:3472
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Abnormality of the ulna, Triphalangeal thumb, Aplasia/Hypoplasia o... ORPHA:84
2Q31.1 Microdeletion Syndrome
Broad hallux phalanx, Abnormality of the ulna, Toe syndactyly, Ventricular septal defect, Abnorma... ORPHA:251014
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Edema, Upper limb asymmetry, Umbilical hernia, Microcephaly ORPHA:2505
Kapur-Toriello Syndrome
Ventricular septal defect, Microphthalmia, Clinodactyly of the 5th toe, Patent ductus arteriosus,... OMIM:244300
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Small cerebral cortex, Optic nerve hypoplasia, Simplified gyral pattern, Microcep... OMIM:617914
Joubert Syndrome 37
Hydronephrosis, Short stature, Postaxial polydactyly, Joint hypermobility, Micropenis, Prominent ... OMIM:619185
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Polydactyly, Hypoplasia of the femoral head, Nephronophthisis, Stag... OMIM:616629
Microgastria-Limb Reduction Defect Syndrome
Abnormal cortical gyration, Arrhinencephaly, Agenesis of corpus callosum, Truncus arteriosus, Mic... ORPHA:2538
Microphthalmia, Syndromic 8
Microphthalmia, Microcephaly, Split foot OMIM:601349
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Complete atrioventricular canal defect, Arrhinencephaly, Upper limb u... OMIM:236680
Microphthalmia, Isolated 5
Microphthalmia, Cystoid macular edema OMIM:611040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Microphthalmia, Holoprosencephaly, Lissencephaly, Pulmonic stenosis, Pach... OMIM:253800
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Martsolf Syndrome 1
Metatarsus adductus, Slender ulna, Microphthalmia, Talipes equinovarus, Cardiomyopathy, Short met... OMIM:212720
Stevenson-Carey Syndrome
Microphthalmia, Joint contracture of the hand, Atrial septal defect, Hip dysplasia, Camptodactyly... OMIM:611961
Suleiman-El-Hattab Syndrome
Ventricular septal defect, Polydactyly, Brachydactyly, Atrial septal defect, Patent foramen ovale... OMIM:618950
Joubert Syndrome 7
Nephronophthisis, Renal cyst, Postaxial hand polydactyly, Postaxial polydactyly OMIM:611560
Solitary Median Maxillary Central Incisor
Microphthalmia, Holoprosencephaly, Anophthalmia, Anterior hypopituitarism, Decreased response to ... OMIM:147250
Holoprosencephaly
Ventricular septal defect, Anterior hypopituitarism, Abnormal pulmonary valve morphology, Microph... ORPHA:2162
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia, Holoprosencephaly, Polyhydramnios, Hydrocephalus, Aplasia/Hypoplasia of the corpu... ORPHA:2166
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Metap... ORPHA:2788
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Microphthalmia, Foot polydactyly, Hydrocephalus, Short palm, Agenesis ... ORPHA:268249
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Bifid sternum, Cervical spina bifida, Spinal dysraphism ORPHA:63260
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology OMIM:607225
Retinitis Pigmentosa 89
Postaxial polydactyly OMIM:618955
Baraitser-Winter Syndrome 2
Microphthalmia, Pachygyria, Secondary microcephaly, Lissencephaly, Agenesis of corpus callosum OMIM:614583
Meier-Gorlin Syndrome 7
Hypospadias, 2-3 toe syndactyly, Aplasia/Hypoplasia of the patella, Growth delay, Short stature, ... OMIM:617063
Syngap1-Related Developmental And Epileptic Encephalopathy
Hypospadias, Postaxial polydactyly ORPHA:544254
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Abnormal heart morphology, Syndactyly, Patent foramen ovale, Camptodac... ORPHA:369891
Nephronophthisis 13
Polydactyly OMIM:614377
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia, Proximal placement of thumb, Finger syndactyly, Postaxial foot poly... ORPHA:139471
Joubert Syndrome 32
Hypertrophic cardiomyopathy, Polymicrogyria, Postaxial polydactyly OMIM:617757
Microphthalmia, Syndromic 13
Microphthalmia, Microcephaly OMIM:300915
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Hydronephrosis, Intrauterine growth retardation, Joint laxity, Coat hanger sign of ribs, Wrist fl... ORPHA:254528
Juvenile Idiopathic Arthritis
Abnormal joint morphology, Abnormal sacroiliac joint morphology, Joint dislocation, Arthritis, Ca... ORPHA:92
Marden-Walker Syndrome
Dextrocardia, Microphthalmia, Talipes equinovarus, Arachnodactyly, Joint contracture of the hand,... OMIM:248700
Amyotrophic Lateral Sclerosis 21
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnormal upper motor neuro... OMIM:606070
Galloway-Mowat Syndrome 3
Microphthalmia, Edema, Arachnodactyly, Simplified gyral pattern, Pachygyria, Hip dislocation, Oli... OMIM:617729
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Synostosis of carpal bones, Subvalvular aortic stenosis, Bilateral single transve... ORPHA:3191
Pseudoaminopterin Syndrome
Horseshoe kidney, Short stature, Postaxial polydactyly, Clinodactyly of the 5th toe, Synostosis o... ORPHA:221120
Spondyloepiphyseal Dysplasia, Nishimura Type
Microphthalmia, Abnormal femoral neck/head morphology, Wide proximal femoral metaphysis, Abnormal... ORPHA:163649
Meckel Syndrome
Microphthalmia, Lobar holoprosencephaly, Anencephaly, Anophthalmia, Situs inversus totalis, Bowin... ORPHA:564
Cardioacrofacial Dysplasia 1
Limb undergrowth, Genu valgum, Postaxial polydactyly OMIM:619142
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Partial agenesis of the corpus callosum, Microphthalmia, Adducted thumb, Optic nerve hypoplasia, ... OMIM:614643
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Ventricular septal defect, Microphthalmia, Atrioventricular canal defect, Absent radius, Atrial s... OMIM:600123
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Hydrocephalus, Polymicrogyria, Agyria, Cerebral calcification, Hypop... OMIM:616538
Pallister-Hall Syndrome
Abnormal prolactin level, Arrhinencephaly, Polydactyly affecting the 4th finger, Broad toe, Paten... ORPHA:672
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Aplasia/Hypoplasia of the thumb, Absent radius, Aplasia of the 1st metacarpal, Ab... ORPHA:1352
Miller-Dieker Lissencephaly Syndrome
Midline brain calcifications, Polydactyly, Deep palmar crease, Abnormal heart morphology, Joint c... OMIM:247200
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia, Polyhydramnios, Aplasia/Hypoplasia involving the pelvis, H... ORPHA:3301
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Microphthalmia, Optic nerve hypoplasia, Polymicrogyria, Lissencephaly... OMIM:614833
Mend Syndrome
2-3 toe syndactyly, Microphthalmia, Long fingers, Abnormal heart morphology, Overlapping fingers,... ORPHA:401973
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Temporal cortical atrophy, Amyotrophic lateral sclerosis, Shoulder girdle muscle weakness, Fronta... OMIM:167320
Stromme Syndrome
Microphthalmia, Optic nerve hypoplasia, Stillbirth, Preaxial polydactyly, Hydrocephalus, Agenesis... OMIM:243605
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Hydrocephalus, Polyhydramnios, Postaxial polydactyly OMIM:219730
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology OMIM:215470
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Simplified gyral pattern, Microphthalmia, Microcephaly, Lymphedema OMIM:152950
Acro-Renal-Ocular Syndrome
Short hallux, Broad hallux phalanx, Toe syndactyly, Triphalangeal thumb, Radial club hand, Microp... ORPHA:959
Cat-Eye Syndrome
Hip dysplasia, Microphthalmia ORPHA:195
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia, Phocomelia, Holoprosencephaly, Aplasia/Hypoplasia of the thumb, Hypoplasia of the... ORPHA:3186
Roberts Syndrome
Phocomelia, Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Hypoplasia of the radiu... ORPHA:3103
Fanconi Anemia, Complementation Group D2
Microphthalmia, Abnormal heart morphology, Patent ductus arteriosus, Absent radius, Complete dupl... OMIM:227646
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hydrocephalus OMIM:601794
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia, Hypoplastic ilia, Bowing of the legs, Short long bone, Ivory epiphyses, Bowing of... ORPHA:85167
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Aicardi Syndrome
Dilated third ventricle, Partial agenesis of the corpus callosum, Microphthalmia, Proximal placem... OMIM:304050
Microphthalmia-Brain Atrophy Syndrome
Corpus callosum atrophy, Diffuse cerebral atrophy, Dilation of lateral ventricles, Bilateral micr... ORPHA:77299
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Monosomy 9Q22.3
Microphthalmia, Polydactyly, Palmar pits, Cardiac fibroma, Hydrocephalus, Umbilical hernia, Calci... ORPHA:77301
Primary Lateral Sclerosis
Cervical spinal cord atrophy, Abnormal upper motor neuron morphology, Atrophy of the spinal cord ORPHA:35689
Spastic Paraplegia 9A, Autosomal Dominant
Abnormality of pelvic girdle bone morphology, Carpal bone hypoplasia, Abnormal upper motor neuron... OMIM:601162
Fanconi Anemia, Complementation Group F
Microphthalmia, Decreased response to growth hormone stimulation test, Polyhydramnios, Hypoplasia... OMIM:603467
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia OMIM:120433
Fanconi Anemia, Complementation Group S
Microphthalmia, Clinodactyly, Proximal placement of thumb, Microcephaly OMIM:617883
Laryngotracheoesophageal Cleft Type 4
Abnormal cardiac septum morphology, Abnormal lower motor neuron morphology ORPHA:93941
Subaortic Stenosis--Short Stature Syndrome
Microphthalmia, Broad finger, Broad toe, Small hand, Subvalvular aortic stenosis, Short foot, Sho... OMIM:271960
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Horizontal ribs, Postaxial polydactyly, Rhizomelia, Renal cyst, Short ribs, Pre... OMIM:616300
Ring Chromosome 10 Syndrome
Tapered finger, Microphthalmia, Sandal gap ORPHA:1438
Seckel Syndrome 2
Clinodactyly of the 5th finger, Microphthalmia, Microcephaly OMIM:606744
Cohen Syndrome
Ventricular septal defect, Mitral valve prolapse, Microphthalmia, Narrow palm, Tapered finger, Cu... ORPHA:193
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Microphthalmia, Abnormal heart morphology, Hip dysplasia, Hypoplasia o... ORPHA:494344
Steinfeld Syndrome
Microphthalmia, Phocomelia, Holoprosencephaly, Aplasia/Hypoplasia of the thumb, Abnormal heart mo... OMIM:184705
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos, Microcephaly OMIM:619318
Chromosome 17Q12 Duplication Syndrome
Broad thumb, Atrial septal defect, Microphthalmia, Brachydactyly OMIM:614526
Ritscher-Schinzel Syndrome 3
Microphthalmia, Epiphyseal stippling, Atrioventricular canal defect, Shortening of all distal pha... OMIM:619135
Cranioectodermal Dysplasia 3
Short stature, Postaxial polydactyly, Nephronophthisis, Stage 5 chronic kidney disease, Sandal ga... OMIM:614099
Machado-Joseph Disease Type 3
Degeneration of the striatum, Spinocerebellar tract degeneration, Abnormal lower motor neuron mor... ORPHA:276244
Fanconi Anemia, Complementation Group J
Short thumb, Microphthalmia OMIM:609054
Focal Dermal Hypoplasia
Short metatarsal, Midclavicular hypoplasia, Foot polydactyly, Hydrocephalus, Short phalanx of fin... OMIM:305600
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Decreased calvarial ossification, Horizontal ribs, Postaxial polydactyly, Neonatal death, Fibular... OMIM:617925
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Bilateral microphthalmos, Microphthalmia, Microcephaly ORPHA:2399
Microphthalmia, Syndromic 3
Ventricular septal defect, Microphthalmia, Hypothalamic hamartoma, Anophthalmia, Optic nerve hypo... OMIM:206900
Holoprosencephaly 9
Abnormal cortical gyration, Partial agenesis of the corpus callosum, Microphthalmia, Holoprosence... OMIM:610829
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Microphthalmia, Agenesis of corpus callosum OMIM:614402
Kapur-Toriello Syndrome
Ventricular septal defect, Dysplastic corpus callosum, Microphthalmia, Patent ductus arteriosus, ... ORPHA:2328
Refsum Disease
Microphthalmia, Hammertoe, Abnormality of epiphysis morphology, Cardiomyopathy, Short metacarpal ORPHA:773
Moderate Hemophilia A
Synovitis, Hip contracture, Joint hemorrhage, Hematuria, Cartilage destruction, Limitation of joi... ORPHA:169805
3Q29 Microduplication Syndrome
Toe syndactyly, Ventricular septal defect, Microphthalmia, Aniridia, Sandal gap, Camptodactyly of... ORPHA:251038
Fryns Syndrome
Arrhinencephaly, Ventricular septal defect, Agenesis of corpus callosum, Microphthalmia, Rocker b... OMIM:229850
Myoclonic-Astatic Epilepsy
Syndactyly, Microphthalmia, Microcephaly ORPHA:1942
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia, Ascites, Holoprosencephaly, Abnormality of the upper limb, Polyhydramnios, Subval... ORPHA:1052
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia OMIM:212550
Posterior Meningocele
Meningocele, Occipital meningocele, Hydromyelia, Neural tube defect, Hydrocephalus, Tethered cord... ORPHA:268810
Jacobsen Syndrome
Ventricular septal defect, Microphthalmia, Holoprosencephaly, Macular hypoplasia, Brachydactyly, ... OMIM:147791
Craniofacial Microsomia
Ventricular septal defect, Microphthalmia, Anophthalmia, Patent ductus arteriosus, Branchial anom... OMIM:164210
Linear Skin Defects With Multiple Congenital Anomalies 1
Ventricular septal defect, Microphthalmia, Histiocytoid cardiomyopathy, Colpocephaly, Absent sept... OMIM:309801
Tarp Syndrome
Horseshoe kidney, Hydronephrosis, Intrauterine growth retardation, Rocker bottom foot, Postaxial ... ORPHA:2886
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Hypoplasia of the corpus callosum, Microphthalmia, Microcephaly OMIM:614105
Kinsship Syndrome
Horseshoe kidney, Renal hypoplasia, Polydactyly, Short stature, Fibular hypoplasia, Dislocated ra... OMIM:619297
Microphthalmia, Syndromic 2
2-3 toe syndactyly, Talipes equinovarus, Patent ductus arteriosus, Broad hallux, Aortic valve ste... OMIM:300166
Incontinentia Pigmenti
Microphthalmia, Finger syndactyly, Deviation of finger, Abnormal hand morphology, Absent hand, Ca... ORPHA:464
3Mc Syndrome 3
Horseshoe kidney, Growth delay, Short stature, Penoscrotal hypospadias, Preaxial polydactyly, Mic... OMIM:248340
Combined Pituitary Hormone Deficiencies, Genetic Forms
Abnormal prolactin level, Polydactyly, Septo-optic dysplasia, Holoprosencephaly, Decreased respon... ORPHA:95494
Galloway-Mowat Syndrome 1
Microphthalmia, Talipes equinovarus, Hypoplasia of the iris, Hand clenching, Joint contracture of... OMIM:251300
22Q11.2 Deletion Syndrome
Arrhinencephaly, Truncus arteriosus, Talipes equinovarus, Patent ductus arteriosus, Foot polydact... ORPHA:567
Orofaciodigital Syndrome Type 6
Hypothalamic hamartoma, Abnormal heart morphology, Mesoaxial polydactyly, Foot polydactyly, Preax... ORPHA:2754
Teebi-Shaltout Syndrome
Metatarsus adductus, Ventricular septal defect, Microphthalmia, Ulnar deviation of the hand, Rock... OMIM:272950
Fanconi Anemia, Complementation Group L
Microphthalmia, Hydrocephalus, Absent thumb OMIM:614083
Adams-Oliver Syndrome 1
Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Microphthalmia, Talipes equinov... OMIM:100300
Spondylo-Ocular Syndrome
Ventricular septal defect, Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Abnormal cortical gyration, Rocker bottom foot, Postaxial polydactyly, Long fingers, Edema, Progr... OMIM:617527
Familial Exudative Vitreoretinopathy
Microcephaly, Microphthalmia, Macular edema, Lymphedema ORPHA:891
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Oligohydramnios, Microphthalmia, Single transverse palmar crease OMIM:619053
Monosomy 13Q14
Microphthalmia, Holoprosencephaly, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Microcepha... ORPHA:1587
Adnp Syndrome
2-3 toe syndactyly, Polydactyly, Short stature, Joint laxity, Abnormality of toe, Abnormality of ... ORPHA:404448
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hydronephrosis, Short stature, Tapered finger, Postaxial polydactyly, Small hand, Hip dislocation... OMIM:300968
Oculodentodigital Dysplasia
Microphthalmia, Cubitus valgus, 4-5 finger syndactyly, Short middle phalanx of the 5th finger, 3-... OMIM:164200
Alkaptonuria
Joint dislocation, Arthritis, Cartilage destruction, Calcification of cartilage, Reduced bone min... ORPHA:56
Vater/Vacterl Association
Patent urachus, Hypospadias, Hydronephrosis, Triphalangeal thumb, Intrauterine growth retardation... OMIM:192350
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Warburg Micro Syndrome 2
Microphthalmia, Overlapping toe, Polymicrogyria, Secondary microcephaly, Hypoplasia of the corpus... OMIM:614225
Joubert Syndrome 2
Microphthalmia, Hydrocephalus, Abnormal corpus callosum morphology, Postaxial hand polydactyly OMIM:608091
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Microphthalmia OMIM:618805
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypoplasia of the frontal lobes, Abnormal periventricular white matter morphology, Lobar holopros... ORPHA:468631
Bartsocas-Papas Syndrome 2
Absent distal phalanges, Microphthalmia, Small hand OMIM:619339
Frontorhiny
Microphthalmia, Pericallosal lipoma, Aplasia/Hypoplasia of the corpus callosum, Camptodactyly of ... ORPHA:391474
Fryns Syndrome
Microphthalmia, Polyhydramnios, Tetralogy of Fallot, Short distal phalanx of finger, Abnormal car... ORPHA:2059
Trichothiodystrophy 4, Nonphotosensitive
Partial agenesis of the corpus callosum, Ventricular septal defect, Microphthalmia, Microcephaly,... OMIM:234050
Myhre Syndrome
2-3 toe syndactyly, Ventricular septal defect, Microphthalmia, Pericardial effusion, Cone-shaped ... OMIM:139210
Hallermann-Streiff Syndrome
Microphthalmia, Metaphyseal widening, Spina bifida, Slender long bone, Microcephaly, Abnormality ... OMIM:234100
Cranioectodermal Dysplasia 2
Horizontal ribs, Polydactyly, Metopic synostosis, Short stature, Rhizomelia, Craniosynostosis, Re... OMIM:613610
Dyrk1A-Related Intellectual Disability Syndrome
Toe syndactyly, Hallux valgus, Ventricular septal defect, Polydactyly, Arachnodactyly, Acromesome... ORPHA:464306
Charge Syndrome
Arrhinencephaly, Absent tibia, Dysplastic tricuspid valve, Patent ductus arteriosus, Overriding a... OMIM:214800
Microphthalmia, Lenz Type
Microphthalmia, Complete duplication of thumb phalanx, Finger syndactyly, Aplasia/Hypoplasia of t... ORPHA:568
Khan-Khan-Katsanis Syndrome
Buphthalmos, Postaxial polydactyly, Colpocephaly, Abnormal heart morphology, Patent ductus arteri... OMIM:618460
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia, Pachygyria, Hydrocephalus, Type II lissencephaly, Agenesis of corpus... OMIM:613150
Congenital Fibrinogen Deficiency
Clubbing of fingers, Microphthalmia, Right ventricular hypertrophy, Left ventricular hypertrophy ORPHA:335
Ane Syndrome
Motor neuron atrophy, Ulnar deviation of the hand, Pituitary hypothyroidism, Anterior pituitary h... ORPHA:157954
3Q29 Microdeletion Syndrome
Microphthalmia, Tapered finger, Patent ductus arteriosus, Subvalvular aortic stenosis, Clinodacty... ORPHA:65286
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Microphthalmia OMIM:167730
Nance-Horan Syndrome
Short metacarpal, Microphthalmia ORPHA:627
Biliary, Renal, Neurologic, And Skeletal Syndrome
Neonatal death, Patent ductus arteriosus, Anterior pituitary hypoplasia, Syndactyly, Hydrocephalu... OMIM:619534
Okamoto Syndrome
Ventricular septal defect, Primum atrial septal defect, Polydactyly, Abnormal mitral valve morpho... ORPHA:2729
Oculodentodigital Dysplasia, Autosomal Recessive
Broad long bones, Microphthalmia, Small hand, Fifth finger distal phalanx clinodactyly, 4-5 finge... OMIM:257850
Fontaine Progeroid Syndrome
Bicuspid aortic valve, Microphthalmia, Deep palmar crease, Abnormal heart morphology, Neonatal de... OMIM:612289
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Postaxial polydactyly, Joint hypermobility, Hip dysplasia, Hydrocephalus, Broad hallux, Unilatera... ORPHA:457284
Fanconi Anemia, Complementation Group E
Microphthalmia, Abnormal heart morphology, Absent radius, Complete duplication of thumb phalanx, ... OMIM:600901
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Oligohydramnios, Microphthalmia, Agenesis of corpus callosum ORPHA:228390
Choanal Atresia
Tracheomalacia, Craniosynostosis, Polydactyly ORPHA:137914
Bardet-Biedl Syndrome 1
Postaxial polydactyly, Foot polydactyly, Radial deviation of finger, Short foot, Syndactyly, Micr... OMIM:209900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Microphthalmia, Optic nerve hypoplasia, Pachygyria, Hypoplasia of the corpus callosu... OMIM:236670
Fanconi Anemia, Complementation Group A
Microphthalmia, Abnormal heart morphology, Absent radius, Complete duplication of thumb phalanx, ... OMIM:227650
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Talipes equinovarus, Postaxial polydactyly, Abn... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Talipes equinovarus, Postaxial polydactyly, Abn... ORPHA:352665
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Abnormal heart morphology, Microphthalmia, Overlapping toe OMIM:618571
Adult-Onset Still Disease
Arthritis, Joint swelling, Cartilage destruction ORPHA:829
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia, Sandal gap, 3-4 toe syndactyly, Broad hallux, Clinodactyly, Brachydactyly OMIM:618727
Isolated Optic Nerve Hypoplasia/Aplasia
Optic disc hypoplasia, Optic nerve hypoplasia, Unilateral microphthalmos, Aplasia/Hypoplasia of t... ORPHA:137902
Rubinstein-Taybi Syndrome 1
Radial deviation of thumb terminal phalanx, Patent ductus arteriosus, Syndactyly, Broad hallux, P... OMIM:180849
Holoprosencephaly 2
Microphthalmia, Holoprosencephaly, Single ventricle, Anterior pituitary agenesis, Agenesis of cor... OMIM:157170
8Q21.11 Microdeletion Syndrome
Microphthalmia, Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Camptodactyly of fi... ORPHA:284160
Skin Creases, Congenital Symmetric Circumferential, 1
Long fingers, Hypoplasia of the corpus callosum, Microphthalmia, Microcephaly OMIM:156610
Charge Syndrome
Bifid femur, Microphthalmia, Holoprosencephaly, Abnormal aortic valve morphology, Anophthalmia, P... ORPHA:138
Arrhinia-Choanal Atresia-Microphthalmia Syndrome