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Gene: Tmem231 MGI:2685024

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
transmembrane protein 231
Synonyms:
4932417I16Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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 Tmem231 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 Tmem231 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly OMIM:615397
Joubert Syndrome 20
Postaxial polydactyly, 4-5 toe syndactyly OMIM:614970
Meckel Syndrome
Postaxial foot polydactyly, Preaxial hand polydactyly, Anophthalmia, Encephalocele, Aplasia/Hypop... ORPHA:564
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Hand polydactyly, Encephalocele, Foot polydactyly ORPHA:2318
Orofaciodigital Syndrome Type 3
Short sternum, Postaxial foot polydactyly, Postaxial hand polydactyly ORPHA:2752

The table below shows human diseases predicted to be associated to Tmem231 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Gombo Syndrome
Brachydactyly, Radial deviation of finger, Clinodactyly, Microphthalmia OMIM:233270
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Brachydactyly, Type C
Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha... OMIM:113100
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... OMIM:618167
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Stillbirth, Syndactyly ORPHA:294975
Microphthalmia, Isolated 4
Postaxial polydactyly, Microphthalmia OMIM:613094
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Microphthalmia/Coloboma 5
Holoprosencephaly, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Biemond Syndrome Type 2
Preaxial polydactyly, Hydrocephalus, Microphthalmia ORPHA:141333
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p... OMIM:615297
Jawad Syndrome
Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalangeal crease of fifth ... OMIM:251255
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly, Occipital encephalocele OMIM:213010
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Meckel Syndrome, Type 5
Postaxial foot polydactyly, Occipital encephalocele, Bowing of the long bones, Microphthalmia, Po... OMIM:611561
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Mmep Syndrome
Triphalangeal thumb, Split foot, Microphthalmia ORPHA:3434
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly OMIM:605967
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly OMIM:615397
Meckel Syndrome, Type 2
Encephalocele, Polydactyly, Bowing of the long bones, Postaxial hand polydactyly, Microphthalmia,... OMIM:603194
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Brachydactyly, Syndactyly, Clinodactyly, Microphthalmia OMIM:610023
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Postaxial polydactyly, Clinodactyly, Polydactyly OMIM:615984
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
2Q24 Microdeletion Syndrome
Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Camptodactyly of fing... ORPHA:1617
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Rocker bottom foot, Microphthalmia OMIM:616570
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Fryns Microphthalmia Syndrome
Anophthalmia, Neural tube defect, Microphthalmia OMIM:600776
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Microphthalmia OMIM:614830
Carpenter Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Umbilical hernia, Preaxial foot polydactyly, Genu... ORPHA:65759
Meckel Syndrome, Type 8
Occipital encephalocele, Encephalocele, Anophthalmia, Polydactyly, Talipes equinovarus, Microphth... OMIM:613885
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Hartsfield Syndrome
Aplasia/Hypoplasia of the radius, Encephalocele, Split hand, Microphthalmia, Lobar holoprosencephaly ORPHA:2117
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, Microphthalmia ORPHA:1528
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Distal shortening of limbs, ... OMIM:300863
Frontonasal Dysplasia 1
Cranium bifidum occultum, Joint contracture of the hand, Anterior basal encephalocele, Clinodacty... OMIM:136760
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Genu valgum, Single transverse ... OMIM:617927
Nanophthalmos
Microphthalmia ORPHA:35612
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Syndactyly, Hydrocephalus, Microphthalmia OMIM:602501
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occulta ORPHA:64754
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... OMIM:206920
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Microphthalmia ORPHA:324416
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia OMIM:218670
Nanophthalmos 4
Microphthalmia OMIM:615972
Pelvis-Shoulder Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Hypoplastic acetabulae, Clino... OMIM:169550
Meckel Syndrome, Type 3
Postaxial foot polydactyly, Occipital encephalocele, Polydactyly, Hydrocephalus, Postaxial hand p... OMIM:607361
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Hydrocephalus, Microphthalmia, Postaxial hand polydactyl... OMIM:611134
Congenital Varicella Syndrome
Micromelia, Microphthalmia ORPHA:291
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Bardet-Biedl Syndrome 4
Syndactyly, Brachydactyly, Polydactyly OMIM:615982
Joubert Syndrome 22
2-3 toe syndactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Microphthalmia OMIM:615665
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Hypoplastic iliac w... ORPHA:163966
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Curry-Jones Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial hand polydactyly, Abnormality of thumb p... ORPHA:1553
Facial Clefting, Oblique, 1
Deep palmar crease, Microphthalmia OMIM:600251
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microphthalmia OMIM:614082
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Orbital encephalocele, Anophthalmia, Microphthalmia OMIM:164180
Septooptic Dysplasia
Polydactyly, Short finger, Optic disc hypoplasia, Optic nerve hypoplasia OMIM:182230
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Temtamy Syndrome
Short toe, Brachydactyly, Microphthalmia, Clinodactyly of the 5th finger, Genu varum ORPHA:1777
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Joubert Syndrome 16
Encephalocele, Polydactyly OMIM:614465
Microphthalmia, Syndromic 12
Neonatal death, Anophthalmia, Microphthalmia OMIM:615524
Moebius Syndrome
Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,... OMIM:157900
Bardet-Biedl Syndrome 9
Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydactyly, Postaxial hand pol... OMIM:615986
Fanconi Anemia, Complementation Group J
Short thumb, Microphthalmia OMIM:609054
Pierpont Syndrome
Short toe, Prominent fingertip pads, Short finger, Deep palmar crease, Broad palm, Microphthalmia... OMIM:602342
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Cone-shaped epiphyses of the ph... OMIM:617102
Pierpont Syndrome
Short toe, Prominent fingertip pads, Short finger, Excessive wrinkling of palmar skin, Deep palma... ORPHA:487825
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Elbow dislocation, Synostosis of carpal bones, Short ... ORPHA:1106
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Bresek Syndrome
Neonatal death, Hydrocephalus, Postaxial hand polydactyly, Microphthalmia, Optic nerve hypoplasia ORPHA:85284
Joubert Syndrome 40
Postaxial polydactyly, Optic nerve hypoplasia OMIM:619582
Joubert Syndrome 18
Occipital encephalocele, Trident pelvis, Bowing of the long bones, Talipes equinovarus, Postaxial... OMIM:614815
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Abnormal epiphysis morphology, Abnormal metaphysis morphology, Bowing of the long bon... ORPHA:93267
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Orofaciodigital Syndrome Xvii
Clinodactyly, Partial duplication of thumb phalanx, Short middle phalanx of the 2nd finger, Polyd... OMIM:617926
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Meckel Syndrome, Type 10
Postaxial foot polydactyly, Occipital encephalocele, Postaxial polydactyly, Ulnar deviation of th... OMIM:614175
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Lissencephaly 8
Talipes equinovarus, Occipital encephalocele, Microphthalmia OMIM:617255
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Microphthalmia ORPHA:3469
Cousin Syndrome
Joint contracture of the hand, Hypoplastic scapulae, Hypoplastic iliac wing, Fibular aplasia, Dis... OMIM:260660
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Talipes equinovarus, Microphthalmia OMIM:616171
Joubert Syndrome 15
Exencephaly, Preaxial polydactyly OMIM:614464
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hydrocephalus, Microphthalmia OMIM:601794
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Hydranencephaly, Bilateral microphthalmos, Camptodactyl... ORPHA:2839
Bardet-Biedl Syndrome 16
Polydactyly OMIM:615993
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Absent radius, Oligodactyly, Humeroradial synostosis, Neon... OMIM:251230
Cofs Syndrome
Camptodactyly of finger, Microphthalmia ORPHA:1466
Curry-Jones Syndrome
Broad thumb, Preaxial hand polydactyly, 3-4 toe syndactyly, Preaxial foot polydactyly, Duplicatio... OMIM:601707
Gracile Bone Dysplasia
Slender long bone, Flared metaphysis, Aniridia, Brachydactyly, Hydrocephalus, Microphthalmia OMIM:602361
Hydrolethalus
Micromelia, Anophthalmia, Hydrocephalus, Postaxial hand polydactyly, Microphthalmia, Anencephaly ORPHA:2189
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Nephronophthisis 15
Polydactyly OMIM:614845
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Sandal gap, Umbilical hernia, Joint contracture of the 5th finger, Joint contracture of the 4th f... OMIM:618914
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus, Microphthalmia OMIM:613155
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Hydrocephalus, Microphthalmia OMIM:615181
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Abnormal epiphysis morphology, Metaphyseal spurs, ... ORPHA:85167
Bardet-Biedl Syndrome 19
Postaxial polydactyly, Y-shaped metacarpals, Postaxial foot polydactyly, Mesoaxial hand polydactyly OMIM:615996
Microphthalmia, Syndromic 8
Split foot, Microphthalmia OMIM:601349
Developmental Delay With Variable Neurologic And Brain Abnormalities
Camptodactyly, Cubitus valgus, Down-sloping shoulders, Microphthalmia OMIM:619694
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
17Q12 Microduplication Syndrome
Toe syndactyly, Finger syndactyly, Microphthalmia ORPHA:261272
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Symphalangism affecting the phalanges of the hand, Camptodactyly of finger, Microphthalmia ORPHA:2547
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Pallister-Hall Syndrome
Postaxial foot polydactyly, Toe syndactyly, Distal shortening of limbs, Neonatal death, Microphth... OMIM:146510
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Clinodactyly, Genu valgum, Polydactyly, Flattened epiphysis, Tapered finger OMIM:607131
Fanconi Anemia, Complementation Group R
Absent thumb, Hydrocephalus, Radial dysplasia, Microphthalmia OMIM:617244
Cat-Eye Syndrome
Hip dysplasia, Microphthalmia ORPHA:195
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... OMIM:147750
Congenital Toxoplasmosis
Hydrocephalus, Microphthalmia ORPHA:858
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Mesoaxial hand polydactyly, Polydactyly, Brachydactyly, Postaxial han... OMIM:615994
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Micromelia, Preaxial polydactyly, Ulnar bowing, Single transverse palmar crease, 2... OMIM:617866
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Adams-Oliver Syndrome 2
Absent distal phalanges, Single transverse palmar crease, Hydrocephalus, Microphthalmia, Short mi... OMIM:614219
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Postaxial polydactyly, Hand polydactyly,... OMIM:258860
Braddock-Carey Syndrome 2
Clinodactyly, Microphthalmia OMIM:619981
Joubert Syndrome 7
Postaxial polydactyly, Genu valgum, Encephalocele, Postaxial hand polydactyly OMIM:611560
Laurin-Sandrow Syndrome
Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius, Fibular dup... OMIM:135750
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Talipes equinovar... OMIM:609945
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Brachydactyly, Short long bone, Polydactyly OMIM:613819
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Clinodactyly of the 5th finger, Upper limb asymmetry, Polydactyly ORPHA:231140
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Bartsocas-Papas Syndrome 2
Small hand, 2-5 finger cutaneous syndactyly, Absent distal phalanges, Microphthalmia OMIM:619339
Osteoporosis-Pseudoglioma Syndrome
Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Metaphyseal widening,... ORPHA:2788
Duane-Radial Ray Syndrome
Radial deviation of the hand, Absent thumb, Optic disc hypoplasia, Short thumb, Shoulder dislocat... OMIM:607323
Warburg Micro Syndrome 1
Overlapping toe, Microphthalmia OMIM:600118
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Slender finger, Hemiatrophy of upper limb, Abnormal femoral neck/head morphology, Flattened epiph... ORPHA:163649
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Flexion contracture of toe, Finger joint contracture, Microphthalmia ORPHA:48431
Adams-Oliver Syndrome
Short distal phalanx of finger, Finger syndactyly, Absent hand, Encephalocele, Abnormal metacarpa... ORPHA:974
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Cerebrooculofacioskeletal Syndrome 4
Slender long bone, Bilateral microphthalmos, Camptodactyly of finger, Flared metaphysis, Elbow fl... OMIM:610758
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Broad proximal phalanges of the hand, Bilateral microphthalmos, Ethmoidal encephalocele, Short fo... OMIM:607597
Microphthalmia With Brain And Digit Anomalies
Postaxial foot polydactyly, Finger syndactyly, Anophthalmia, Microphthalmia, Proximal placement o... ORPHA:139471
3P25.3 Microdeletion Syndrome
Broad thumb, Broad hallux, Overlapping toe, Postaxial polydactyly, 2-3 finger syndactyly, Microph... ORPHA:435638
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Joubert Syndrome 20
Postaxial polydactyly, 4-5 toe syndactyly OMIM:614970
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Meckel Syndrome 14
Postaxial foot polydactyly, Occipital encephalocele, Bowing of the long bones, Postaxial polydact... OMIM:619879
Rhombencephalosynapsis
Finger syndactyly, Polydactyly, Hydrocephalus, Short phalanx of finger, Septo-optic dysplasia, Co... ORPHA:59315
Houge-Janssens Syndrome 2
Broad hallux, Deviation of the 5th finger, Postaxial polydactyly, Hydrocephalus, Hip dysplasia OMIM:616362
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Microphthalmia OMIM:613730
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Brachydactyly, Short long bone OMIM:615633
Oculofaciocardiodental Syndrome
Short thumb, Genu valgum, Flexion contracture of the 4th toe, 2-3 toe syndactyly, Radioulnar syno... ORPHA:2712
Linear Skin Defects With Multiple Congenital Anomalies 2
Sandal gap, Microphthalmia OMIM:300887
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Acro-Renal-Ocular Syndrome
Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Optic disc hypoplasia, Apla... ORPHA:959
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypoplastic ischia, Polydactyly OMIM:616910
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Elbow flexion contracture, Second metatarsal posteriorly placed, M... OMIM:214150
Mosaic Trisomy 1
Hand clenching, Toe syndactyly, Broad 2nd toe, Finger clinodactyly, Camptodactyly of finger, Elbo... ORPHA:1692
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Rhizomelia, Metaphyseal cupping, Flared metaphysis, Short finger, Femoral bowing, Tibial bowing, ... OMIM:608940
Joubert Syndrome 23
Polydactyly OMIM:616490
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Hypoplastic scapulae, Micromelia, Polydactyly, Bowing of the long... OMIM:614091
Pelger-Huet Anomaly
Short 3rd metacarpal, Umbilical hernia, Upper limb undergrowth, Short 5th metacarpal, Polydactyly... OMIM:169400
Ring Chromosome 10 Syndrome
Tapered finger, Sandal gap, Microphthalmia ORPHA:1438
Frontorhiny
Cranium bifidum occultum, Finger clinodactyly, Camptodactyly of finger, Encephalocele, Basal ence... ORPHA:391474
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Brachydactyly OMIM:600151
Joubert Syndrome 17
Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly OMIM:614615
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Preaxial polydactyly, Overlapping toe, Overlapping fingers, Postaxial polydactyly, Bilateral tali... OMIM:618142
Monosomy 18P
Holoprosencephaly, Brachydactyly, Microphthalmia ORPHA:1598
Orofaciodigital Syndrome Vi
Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand polydactyly, Preaxial foo... OMIM:277170
Laurence-Moon Syndrome
Abnormality of the hand, Polydactyly OMIM:245800
1Q21.1 Microdeletion Syndrome
Broad thumb, Toe syndactyly, Clinodactyly of the 5th finger, Talipes equinovarus, Hand polydactyl... ORPHA:250989
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Broad thumb, Prominent fingertip pads, Genu valgum, Arachnodactyly, Postaxial polydactyly, Clinod... OMIM:619721
20P13 Microdeletion Syndrome
Brachydactyly, Finger syndactyly, Clinodactyly, Polydactyly ORPHA:313781
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Microphthalmia OMIM:613153
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Postaxial polydactyly, Abnormally large globe, Hydrocephalus OMIM:603387
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Short tibia, Preaxial polydactyly, Hypoplastic pelvis, Encephalocele, Fibular hypopla... OMIM:616300
Temtamy Syndrome
Talipes equinovarus, Brachydactyly, Microphthalmia, Short 2nd toe, Hip dislocation OMIM:218340
Joubert Syndrome 14
Encephalocele, Postaxial polydactyly, Hydrocephalus, Microphthalmia, Meningocele OMIM:614424
2Q31.1 Microdeletion Syndrome
Toe syndactyly, Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnormal tibia morphology... ORPHA:251014
Intellectual Developmental Disorder, Autosomal Dominant 23
Postaxial polydactyly, Broad distal phalanx of finger, Sandal gap OMIM:615761
Silver-Russell Syndrome Due To A Point Mutation
Short 5th finger, Ectrodactyly, Small placenta, Polydactyly, Clinodactyly of the 5th finger, Synd... ORPHA:397590
Bardet-Biedl Syndrome 8
Postaxial polydactyly OMIM:615985
Endocrine-Cerebroosteodysplasia
Sandal gap, Micromelia, Preaxial polydactyly, Fibular bowing, Tibial bowing, Single transverse pa... OMIM:612651
Sandestig-Stefanova Syndrome
Clinodactyly, Bilateral single transverse palmar creases, Microphthalmia, Camptodactyly, Rocker b... OMIM:618804
Martsolf Syndrome 1
Broad femoral neck, Short toe, Slender ulna, Avascular necrosis of the capital femoral epiphysis,... OMIM:212720
Chromosome 17Q12 Duplication Syndrome
Broad thumb, Brachydactyly, Microphthalmia OMIM:614526
Chromosome 13Q33-Q34 Deletion Syndrome
Short thumb, Overlapping toe, Distally placed thumb, Encephalocele, Single transverse palmar crea... OMIM:619148
Trisomy 13
Abnormal pelvic girdle bone morphology, Ectrodactyly, Aplasia/Hypoplasia of the iris, Anophthalmi... ORPHA:3378
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Hydrocephalus, Anophthalmia, Microphthalmia ORPHA:77298
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... OMIM:613091
Cerebrooculofacioskeletal Syndrome 2
Rocker bottom foot, Camptodactyly of finger, Microphthalmia OMIM:610756
Congenital Rubella Syndrome
Abnormal metaphysis morphology, Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:290
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Short thumb, Carpal synostosis, Myelomeningocele, ... ORPHA:90652
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Broad distal phalanx of finger, Postaxial foot polydactyly, 2-3 toe syndactyly, Postaxial polydac... ORPHA:404440
Seckel Syndrome 2
Clinodactyly of the 5th finger, Microphthalmia OMIM:606744
Chromosome 3Pter-P25 Deletion Syndrome
Postaxial polydactyly, Macular hypoplasia, Overlapping toe, Tapered finger OMIM:613792
Joubert Syndrome 27
Polydactyly OMIM:617120
Ritscher-Schinzel Syndrome 3
Short 1st metacarpal, Short first metatarsal, Epiphyseal stippling, Ulnar bowing, Hypoplasia of t... OMIM:619135
Pseudotrisomy 13 Syndrome
Postaxial foot polydactyly, Encephalocele, 2-3 toe syndactyly, Hydrocephalus, Microphthalmia, Pos... OMIM:264480
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Microphthalmia, Clinodact... ORPHA:1352
Garg-Mishra Progeroid Syndrome
Slender long bone, Slender metacarpals, Microphthalmia, Broad palm, Coxa valga OMIM:620601
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Prominent fingertip pads, Overlapping toe, Overlapping fingers, Hip dysplasia, Microphthalmia OMIM:618494
Joubert Syndrome 37
Postaxial polydactyly, Microphthalmia OMIM:619185
Focal Dermal Hypoplasia
Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndactyly, Abnormal epiphysis morph... ORPHA:2092
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Micromelia, Postaxial polydactyly, Brachydactyly, Hypoplasia of the radius, Syn... OMIM:617895
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Solitary Median Maxillary Central Incisor
Holoprosencephaly, Anophthalmia, Microphthalmia OMIM:147250
Retinitis Pigmentosa 89
Postaxial polydactyly OMIM:618955
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Sandal gap, Radial deviation of finger, Proximal p... ORPHA:3103
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Hydrocephalus, Microphthalmia OMIM:615249
Suleiman-El-Hattab Syndrome
Brachydactyly, Clinodactyly, Single transverse palmar crease, Polydactyly OMIM:618950
Nance-Horan Syndrome
Short metacarpal, Microphthalmia ORPHA:627
Subaortic Stenosis-Short Stature Syndrome
Synostosis of carpal bones, Bilateral single transverse palmar creases, Microphthalmia ORPHA:3191
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Retinitis Pigmentosa 51
Polydactyly OMIM:613464
Fanconi Anemia, Complementation Group S
Proximal placement of thumb, Clinodactyly, Microphthalmia OMIM:617883
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Sandal gap, Clinodactyly, Broad hallux, 3-4 toe syndactyly, Brachydactyly, Microphthalmia OMIM:618727
Stevenson-Carey Syndrome
Camptodactyly, Joint contracture of the hand, Hip dysplasia, Microphthalmia OMIM:611961
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Chromosome 1Q41-Q42 Deletion Syndrome
Sandal gap, Talipes equinovarus, Microphthalmia, Holoprosencephaly, 3-4 finger cutaneous syndactyly OMIM:612530
Basal Cell Nevus Syndrome 1
Palmar pits, Short distal phalanx of the thumb, Polydactyly, Down-sloping shoulders, Short 4th me... OMIM:109400
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Occipital encephalocele, Hydrocephalus, Microphthalmia ORPHA:370959
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Microphthalmia OMIM:167730
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydactyly, Brachydactyly, Sho... OMIM:615503
Kapur-Toriello Syndrome
Joint contracture of the hand, Short thumb, Camptodactyly of finger, Overlapping fingers, Bilater... OMIM:244300
Stromme Syndrome
Preaxial polydactyly, Hydrocephalus, Stillbirth, Microphthalmia, Optic nerve hypoplasia OMIM:243605
Conotruncal Heart Malformations
Postaxial polydactyly, Broad hallux OMIM:217095
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris OMIM:604229
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly ORPHA:544254
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Broad hallux, Single transverse palmar crease, Microphthalmia OMIM:614105
Steinfeld Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Microphthalmia... OMIM:184705
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Clinodactyly, Bilateral microphthalmos, Umbilical hernia, Abnormality of the hand, Camptodactyly,... ORPHA:369891
Fanconi Anemia, Complementation Group I
Absent thumb, Short thumb, Short 1st metacarpal, Hypoplasia of the radius, Microphthalmia, Optic ... OMIM:609053
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Foot polydactyly, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Hypoplasia of the ul... ORPHA:3186
Tarp Syndrome
Clinodactyly, Single transverse palmar crease, Neonatal death, Postaxial polydactyly, Talipes equ... OMIM:311900
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Small hand, 2-4 toe cutaneous syndactyly, Broad long bo... OMIM:257850
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Cohen Syndrome
Finger syndactyly, Sandal gap, Abnormal hip bone morphology, Genu valgum, Narrow palm, Arachnodac... ORPHA:193
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Polydactyly, Hydrocephalus, Umbilical hernia ORPHA:93400
Neurooculocardiogenitourinary Syndrome
Abnormality of the palmar creases, Microphthalmia OMIM:618652
Chondrodysplasia Punctata 2, X-Linked Dominant
Abnormal pelvic girdle bone morphology, Rhizomelia, Hemiatrophy, Stippled calcification in carpal... OMIM:302960
Myoclonic-Astatic Epilepsy
Syndactyly, Microphthalmia ORPHA:1942
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Microphthalmia ORPHA:228390
Vacterl With Hydrocephalus
Anophthalmia, Hydrocephalus, Spina bifida, Microphthalmia, Hypoplasia of the radius, Aqueductal s... ORPHA:3412
Oculogastrointestinal Neurodevelopmental Syndrome
Unilateral microphthalmos, Bilateral microphthalmos OMIM:619318
Refsum Disease
Hammertoe, Abnormal epiphysis morphology, Short metacarpal, Microphthalmia ORPHA:773
Bardet-Biedl Syndrome 6
Postaxial polydactyly, Syndactyly OMIM:605231
Meckel Syndrome
Postaxial foot polydactyly, Preaxial hand polydactyly, Anophthalmia, Encephalocele, Aplasia/Hypop... ORPHA:564
Microgastria-Limb Reduction Defect Syndrome
Aplastic clavicle, Elbow dislocation, Short thumb, Ectrodactyly, Abnormal morphology of the radiu... ORPHA:2538
Basel-Vanagaite-Smirin-Yosef Syndrome
Deviation of the 2nd finger, Finger syndactyly, Clinodactyly, Overlapping toe, Overlapping finger... ORPHA:464738
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Genu valgum, Limb undergrowth OMIM:619142
Joubert Syndrome 2
Postaxial foot polydactyly, Encephalocele, Hydrocephalus, Postaxial hand polydactyly, Microphthalmia OMIM:608091
Marden-Walker Syndrome
Joint contracture of the hand, Arachnodactyly, Talipes equinovarus, Radioulnar synostosis, Microp... OMIM:248700
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Nance-Horan Syndrome
Short phalanx of finger, Broad finger, Microphthalmia OMIM:302350
Mosaic Trisomy 9
Elbow dislocation, Finger clinodactyly, Camptodactyly of finger, Micromelia, Talipes equinovarus,... ORPHA:99776
Trisomy 18
Deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology, Bilateral single tran... ORPHA:3380
Congenital Primary Aphakia
Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... ORPHA:83461
3Q29 Microduplication Syndrome
Toe syndactyly, Sandal gap, Aniridia, Camptodactyly of toe, Microphthalmia ORPHA:251038
Neu-Laxova Syndrome 1
Hydranencephaly, Joint contracture of the hand, Toe syndactyly, Stillbirth, Finger syndactyly, Cl... OMIM:256520
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Mend Syndrome
Broad hallux, Overlapping toe, Overlapping fingers, 2-3 toe syndactyly, Hand polydactyly, Hydroce... ORPHA:401973
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Short 5th finger, Broad thumb, Broad hallux, Preaxial hand polydactyly, Overlapping toe, 2-3 toe ... ORPHA:508498
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Joubert Syndrome 39
Postaxial polydactyly, Occipital encephalocele, Joint contracture of the 5th finger OMIM:619562
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the pelvis, Septo-optic dysplasia, Hydrocephalus, Microphthalmia ORPHA:3301
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris... ORPHA:2334
Walker-Warburg Syndrome
Metatarsus valgus, Hydrocephalus, Anophthalmia, Microphthalmia ORPHA:899
Frontofacionasal Dysplasia
Encephalocele, Microphthalmia ORPHA:1791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Hydrocephalus, Microphthalmia OMIM:616538
Mend Syndrome
Broad hallux, Overlapping toe, Overlapping fingers, Polydactyly, 2-3 toe syndactyly, Macular hypo... OMIM:300960
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Prominent fingertip pads, Joint contracture of the 5th finger, Single transverse palmar crease, 2... OMIM:620098
Monosomy 13Q14
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Brachydactyly, Microphthalmia, Clinodactyly o... ORPHA:1587
Baraitser-Winter Syndrome 1
Duplication of phalanx of hallux, Microphthalmia OMIM:243310
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Single transverse palmar crease, Microphthalmia OMIM:619053
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Ventriculomegaly With Cystic Kidney Disease
Postaxial polydactyly, Hydrocephalus OMIM:219730
Congenital Fibrinogen Deficiency
Clubbing of fingers, Microphthalmia ORPHA:335
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Cone-shaped epiphysis, Occipital encephalocele, Rhizomelic arm shortening, Proximal femoral metap... ORPHA:397715
Warburg Micro Syndrome 2
Clinodactyly of the 5th toe, Overlapping toe, Clinodactyly of the 4th toe, Microphthalmia OMIM:614225
Microphthalmia, Lenz Type
Finger syndactyly, Camptodactyly of finger, Abnormal shoulder morphology, Microphthalmia, Clinoda... ORPHA:568
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Small hand, Short foot, Short palm, Microphthalmia OMIM:241410
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Hydrocephalus, Adducted thumb, Microphthalmia, Optic nerve hypoplasia OMIM:614643
Congenital Disorder Of Glycosylation, Type Iil
Postaxial polydactyly, Hydrocephalus, Hip dysplasia OMIM:614576
Mycophenolate Mofetil Embryopathy
Foot polydactyly, Hydrocephalus, Short palm, Microphthalmia ORPHA:268249
Bardet-Biedl Syndrome 12
Postaxial hand polydactyly, Postaxial foot polydactyly, Polydactyly OMIM:615989
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Micromelia, Preaxial polydactyly, Occipital meningocele, Postaxial polydactyly... OMIM:616546
Teebi-Shaltout Syndrome
Caudal appendage, Single transverse palmar crease, Talipes equinovarus, Ulnar deviation of the ha... OMIM:272950
Focal Dermal Hypoplasia
Toe syndactyly, Anophthalmia, Microphthalmia, Foot polydactyly, Short metacarpal, Myelomeningocel... OMIM:305600
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Clinodactyly of the 5th finger, Microphthalmia OMIM:617306
Rere-Related Neurodevelopmental Syndrome
Hip dysplasia, Microphthalmia ORPHA:494344
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Rhizomelia, Anophthalmia, 2-3 toe syndactyly, Microphthalmia, 3-4 finger syndactyly OMIM:615877
Orofaciodigital Syndrome Type 6
Finger clinodactyly, Preaxial polydactyly, Hand polydactyly, Mesoaxial polydactyly, Brachydactyly... ORPHA:2754
Yunis-Varon Syndrome
Aplasia of the distal phalanx of the hallux, Aplasia of the distal phalanges of the hand, Microph... ORPHA:3472
Heart And Brain Malformation Syndrome
Hand clenching, Camptodactyly of finger, Microphthalmia OMIM:616920
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia OMIM:610256
Fanconi Anemia, Complementation Group D2
Absent thumb, Short thumb, Preaxial hand polydactyly, Partial duplication of thumb phalanx, Hydro... OMIM:227646
Holoprosencephaly-Postaxial Polydactyly Syndrome
Umbilical hernia, Encephalocele, Hydrocephalus, Microphthalmia, Postaxial hand polydactyly, Holop... ORPHA:2166
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Bilateral microphthalmos, Microphthalmia ORPHA:2399
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Preaxial polydactyly, Neonatal death, Fibular hypoplasia, Postaxial polydactyly, Hyp... OMIM:617925
Premature Aging Syndrome, Penttinen Type
Short distal phalanx of finger, Slender long bone, Tibial bowing, Flexion contracture of finger, ... OMIM:601812
Pseudoaminopterin Syndrome
Slender finger, Synostosis of carpal bones, Short thumb, Overlapping toe, Clinodactyly of the 4th... ORPHA:221120
X-Linked Dominant Chondrodysplasia Punctata
Epiphyseal stippling, Talipes equinovarus, Neonatal epiphyseal stippling, Microphthalmia, Hip dis... ORPHA:35173
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Monosomy 9Q22.3
Palmar pits, Umbilical hernia, Polydactyly, Hydrocephalus, Microphthalmia ORPHA:77301
Hydrolethalus Syndrome 1
Stillbirth, Preaxial hand polydactyly, Upper limb undergrowth, Talipes equinovarus, Duplication o... OMIM:236680
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Microphthalmia, Absen... ORPHA:284160
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Ohdo Syndrome, X-Linked
Clinodactyly, Short thumb, Overlapping toe, Long thumb, Ulnar deviation of the hand, Microphthalm... OMIM:300895
9Q21.13 Microdeletion Syndrome
Hip dysplasia, Polydactyly ORPHA:531151
Meckel Syndrome, Type 1
Postaxial foot polydactyly, Occipital encephalocele, Clinodactyly, Radial deviation of finger, Ca... OMIM:249000
Cerebrooculonasal Syndrome
Encephalocele, Anophthalmia, Postaxial polydactyly, Hydrocephalus, Postaxial hand polydactyly, Op... OMIM:605627
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Holoprosencephaly, Encephalocele, Microphthalmia OMIM:253800
Warburg Micro Syndrome 3
Clinodactyly of the 5th finger, Microphthalmia OMIM:614222
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Hydrocephalus, Microphthalmia OMIM:613001
Chromosome 8Q21.11 Deletion Syndrome
Absent palmar crease, Microphthalmia, Camptodactyly, Short metacarpal, Syndactyly OMIM:614230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Buphthalmos, Encephalocele, Microphthalmia OMIM:613150
Fanconi Anemia, Complementation Group F
Absent thumb, Short thumb, 2-3 finger syndactyly, Hypoplasia of the radius, Microphthalmia OMIM:603467
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Clubbing of toes, Toe syndactyly, Aplasia/Hypoplasia of the radius... ORPHA:84
Incontinentia Pigmenti
Deviation of finger, Finger syndactyly, Umbilical hernia, Camptodactyly of finger, Abnormal hand ... ORPHA:464
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Upper limb asymmetry, Umbilical hernia ORPHA:2505
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Microphthalmia OMIM:301108
Jacobsen Syndrome
Macular hypoplasia, Brachydactyly, Hydrocephalus, Microphthalmia, Clinodactyly of the 5th finger,... OMIM:147791
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Broad thumb, Camptodactyly of finger, Bilateral single transverse palmar creases, Microphthalmia,... ORPHA:1236
Basel-Vanagaite-Smirin-Yosef Syndrome
2-3 toe syndactyly, Single transverse palmar crease, Microphthalmia OMIM:616449
Orofaciodigital Syndrome I
Clinodactyly, Radial deviation of finger, Myelomeningocele, Polydactyly, Hydrocephalus, Brachydac... OMIM:311200
Bardet-Biedl Syndrome 1
Postaxial foot polydactyly, Radial deviation of finger, Postaxial polydactyly, Brachydactyly, Pos... OMIM:209900
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Overlapping toe, Microphthalmia OMIM:618571
Adnp Syndrome
Broad thumb, Sandal gap, Broad hallux, Umbilical hernia, Single transverse palmar crease, Polydac... ORPHA:404448
Fanconi Anemia, Complementation Group E
Absent thumb, Short thumb, Absent radius, Microphthalmia, Complete duplication of thumb phalanx OMIM:600901
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610125
Rodrigues Blindness
Microphthalmia OMIM:268320
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Finger clinodactyly, Camptodactyly of finger, Pectoral muscle hypoplasi... ORPHA:306542
Holoprosencephaly
Spinal dysraphism, Branchial anomaly, Encephalocele, Anophthalmia, Hand polydactyly, Hydrocephalu... ORPHA:2162
Bartsocas-Papas Syndrome 1
Hypoplastic scapulae, Absent thumb, Short thumb, Oligodactyly, Hypoplastic iliac wing, Ulnar bowi... OMIM:263650
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Clinodactyly of the 5th finger... ORPHA:457284
Chromosome 13Q14 Deletion Syndrome
Umbilical hernia, Overlapping toe, Single transverse palmar crease, Microphthalmia, Clinodactyly ... OMIM:613884
Fanconi Anemia, Complementation Group N
Hypoplasia of the radius, Absent thumb, Short thumb, Microphthalmia OMIM:610832
Otodental Syndrome
Lens coloboma, Microphthalmia ORPHA:2791
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Hip contracture, Bowing ... OMIM:210710
Oculodentodigital Dysplasia
Clinodactyly, 3-4 toe syndactyly, Joint contracture of the 5th finger, Cubitus valgus, 4-5 finger... OMIM:164200
Acrofrontofacionasal Dysostosis 1
Short distal phalanx of finger, Broad thumb, Acetabular dysplasia, Microphthalmia, Short metacarpal OMIM:201180
Fanconi Anemia, Complementation Group A
Absent thumb, Short thumb, Absent radius, Microphthalmia, Complete duplication of thumb phalanx OMIM:227650
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Postaxial polydactyly OMIM:615824
Galloway-Mowat Syndrome 1
Hand clenching, Joint contracture of the hand, Slender finger, Hypoplasia of the iris, Talipes eq... OMIM:251300
Cranioectodermal Dysplasia 3
Rhizomelia, 2-4 toe syndactyly, Sandal gap, Postaxial polydactyly, 2-3 toe syndactyly, Brachydactyly OMIM:614099
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Fanconi Anemia, Complementation Group L
Absent thumb, Microphthalmia, Hydrocephalus, Absent radius, Bilateral talipes equinovarus OMIM:614083
Skin Creases, Congenital Symmetric Circumferential, 1
Long fingers, Microphthalmia OMIM:156610
Myhre Syndrome
Cone-shaped epiphysis, Short toe, Clinodactyly, Short finger, Radial deviation of finger, Hypopla... OMIM:139210
3Q29 Microdeletion Syndrome
Clinodactyly of the 5th finger, Tapered finger, Microphthalmia ORPHA:65286
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Bilateral microphthalmos, Hydrocephalus, M... OMIM:610828
Trichothiodystrophy 3, Photosensitive
Microphthalmia OMIM:616395
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Galloway-Mowat Syndrome 3
Arachnodactyly, Camptodactyly, Hip dislocation, Microphthalmia OMIM:617729
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Hydrocephalus, Microphthalmia, Buphthalmos, Meningoencephalocele, Optic ... OMIM:236670
Hallermann-Streiff Syndrome
Slender long bone, Abnormality of the hand, Spina bifida, Metaphyseal widening, Microphthalmia OMIM:234100
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Frontonasal Dysplasia 2
Encephalocele, Microphthalmia OMIM:613451
Senior-Loken Syndrome 8
Polydactyly OMIM:616307
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Abnormal palmar dermatoglyphics, Microphthalmia ORPHA:2728
Tarp Syndrome
Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Single transverse palmar crease, ... ORPHA:2886
Orofaciodigital Syndrome V
Postaxial polydactyly, Postaxial foot polydactyly, Sandal gap, Postaxial hand polydactyly OMIM:174300
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Small hand, Postaxial polydactyly, Hip dysplasia, Short foot, Hip dislocation, Tapered finger OMIM:300968
Matthew-Wood Syndrome
Anophthalmia, Microphthalmia ORPHA:2470
Pallister-Hall Syndrome
Toe syndactyly, Broad thumb, Radial bowing, Supernumerary metacarpal bones, Umbilical hernia, Pol... ORPHA:672
Rubinstein-Taybi Syndrome 1
Broad distal phalanx of finger, Broad thumb, Radial deviation of thumb terminal phalanx, Short th... OMIM:180849
Fanconi Anemia, Complementation Group C
Absent thumb, Short thumb, Absent radius, Microphthalmia, Complete duplication of thumb phalanx OMIM:227645
Momo Syndrome
Bilateral microphthalmos, Femoral bowing, Short sternum, Large hands, Congenital pseudoarthrosis ... ORPHA:2563
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Single transverse palmar crease, Polydactyly, Deep palmar crease, ... OMIM:247200
Microphthalmia/Coloboma 9
Microphthalmia OMIM:615145
Microphthalmia, Syndromic 2
2-3 toe cutaneous syndactyly, Hand clenching, Sandal gap, Broad hallux, Umbilical hernia, Anophth... OMIM:300166
Choanal Atresia
Polydactyly ORPHA:137914
Bardet-Biedl Syndrome 20
2-3 toe syndactyly, Preaxial foot polydactyly, Postaxial polydactyly, Postaxial hand polydactyly OMIM:619471
Microphthalmia/Coloboma 12
Optic nerve aplasia, Microphthalmia OMIM:120200
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Aplasia of the distal phalanx of the 5th finger, Aplasia of the distal phalanx of the 5th toe, Br... ORPHA:364577
Oculo-Palato-Cerebral Syndrome
Small hand, Short foot, Microphthalmia ORPHA:2714
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Rothmund-Thomson Syndrome, Type 2
Congenital hip dislocation, Small hand, Short thumb, Talipes equinovarus, Forearm reduction defec... OMIM:268400
Oculoauricular Syndrome
Macular hypoplasia, Phthisis bulbi, Microphakia, Microphthalmia, Spina bifida occulta OMIM:612109
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Polydactyly ORPHA:314655
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Fryns Syndrome
Short distal phalanx of finger, Joint contracture of the hand, Prominent fingertip pads, Short th... OMIM:229850
Roberts-Sc Phocomelia Syndrome
Finger aplasia, Absent thumb, Clinodactyly, Radial deviation of finger, Elbow flexion contracture... OMIM:268300
Holoprosencephaly 9
Alobar holoprosencephaly, Anophthalmia, Hydrocephalus, Microphthalmia, Postaxial hand polydactyly... OMIM:610829
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Traboulsi Syndrome
Broad hallux, Short finger, Arachnodactyly, Cubitus valgus, Microphthalmia OMIM:601552
Norrie Disease
Hypoplasia of the iris, Buphthalmos, Microphthalmia OMIM:310600
Kinsship Syndrome
Single transverse palmar crease, Polydactyly, Fibular hypoplasia, Coxa valga, Dislocated radial h... OMIM:619297
Vater/Vacterl Association
Occipital encephalocele, Short thumb, Preaxial polydactyly, Radioulnar synostosis, Triphalangeal ... OMIM:192350
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Single transverse palmar crease, Postaxial polydactyly, Palmoplantar hyperhidrosis, Long fingers,... OMIM:617527
Au-Kline Syndrome
Overlapping toe, Postaxial polydactyly, Deep palmar crease, Lipomyelomeningocele, Hip dysplasia, ... OMIM:616580
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Fryns Syndrome
Clinodactyly of the 5th finger, Short distal phalanx of finger, Microphthalmia ORPHA:2059
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Hand polydactyly, Encephalocele, Foot polydactyly ORPHA:2318
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Carpenter Syndrome 2
Broad thumb, Umbilical hernia, Preaxial polydactyly, Cutaneous finger syndactyly, Bilateral posta... OMIM:614976
Helsmoortel-Van Der Aa Syndrome
Small hand, Sandal gap, Prominent fingertip pads, Short 4th toe, Broad hallux, Genu valgum, Polyd... OMIM:615873
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Charge Syndrome
Bifid femur, Umbilical hernia, Abnormal tibia morphology, Clinodactyly of the 5th finger, Anophth... ORPHA:138
Mosaic Variegated Aneuploidy Syndrome
Clinodactyly of the 5th finger, Holoprosencephaly, Abnormality of the upper limb, Microphthalmia ORPHA:1052
Atelis Syndrome 2
Clinodactyly, Single transverse palmar crease, Microphthalmia OMIM:620185
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos, Adducted thumb OMIM:618874
Micro Syndrome
Microphthalmia ORPHA:2510
Dyrk1A-Related Intellectual Disability Syndrome
Toe syndactyly, Polydactyly, Arachnodactyly, Hallux valgus, Clinodactyly of the 5th finger, Acrom... ORPHA:464306
Microphthalmia, Syndromic 6
Toe syndactyly, Finger syndactyly, Thumb contracture, Anophthalmia, Single transverse palmar crea... OMIM:607932
Dubowitz Syndrome
Hypoplasia of the iris, Single transverse palmar crease, Microphthalmia, Clinodactyly of the 5th ... OMIM:223370
Adams-Oliver Syndrome 1
Toe syndactyly, Encephalocele, Talipes equinovarus, Brachydactyly, Microphthalmia OMIM:100300
Persistent Hyperplastic Primary Vitreous
Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia ORPHA:91495
Skin Creases, Congenital Symmetric Circumferential, 2
2-3 toe syndactyly, Long fingers, Microphthalmia, Clinodactyly of the 5th finger, Short palm, Tap... OMIM:616734
Kenny-Caffey Syndrome, Type 2
Thickened cortex of long bones, Abnormality of the medullary cavity of the long bones, Microphtha... OMIM:127000
Cockayne Syndrome B
Square pelvis bone, Hypoplasia of the iris, Hypoplastic iliac wing, Hypoplastic pelvis, Microphth... OMIM:133540
Cat Eye Syndrome
Microphthalmia, Absent radius, Umbilical hernia OMIM:115470
Retinitis Pigmentosa 74
Polydactyly OMIM:616562
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Aplasia of the distal phalanx of the 5th toe, Short finger, Short digit, Microphthalmia, Clinodac... OMIM:608670
3Mc Syndrome 3
Radioulnar synostosis, Clinodactyly, Preaxial polydactyly OMIM:248340
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Phthisis bulbi, Buphthalmos, Microphthalmia OMIM:221900
22Q11.2 Deletion Syndrome
Umbilical hernia, Arachnodactyly, Talipes equinovarus, Hand polydactyly, Hydrocephalus, Spina bif... ORPHA:567
Linear Skin Defects With Multiple Congenital Anomalies 1
Hydrocephalus, Single transverse palmar crease, Microphthalmia OMIM:309801
Hallermann-Streiff Syndrome
Clinodactyly of the 5th finger, Small hand, Short foot, Microphthalmia ORPHA:2108
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Short distal phalanx of finger, Broad thumb, Prominent fingertip pads, Broad hallux, Mesoaxial fo... OMIM:612474
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Bilateral microphthalmos, Camptodactyly of finger, 4-5 finger syndactyly, 2-5 finger syndactyly, ... ORPHA:468631
Aicardi Syndrome
Proximal placement of thumb, Spina bifida, Microphthalmia OMIM:304050
Cranioectodermal Dysplasia 2
Rhizomelia, Clinodactyly, Polydactyly, Brachydactyly, Postaxial hand polydactyly, Mesomelia, Synd... OMIM:613610
Cntnap2-Related Developmental And Epileptic Encephalopathy
Preaxial polydactyly ORPHA:163681
Monosomy 9P
Abnormality of the tarsal bones, Bilateral single transverse palmar creases, Postaxial hand polyd... ORPHA:261112
Witteveen-Kolk Syndrome
Small hand, Toe syndactyly, Branchial fistula, Short thumb, Clinodactyly, Radial deviation of fin... OMIM:613406
8Q24.3 Microdeletion Syndrome
Short 5th finger, Congenital hip dislocation, Optic nerve hypoplasia, Branchial cyst, Bilateral m... ORPHA:508488
Fraser Syndrome
Toe syndactyly, Finger syndactyly, Umbilical hernia, Myelomeningocele, Wide pubic symphysis, Ence... ORPHA:2052
Khan-Khan-Katsanis Syndrome
Postaxial polydactyly, Buphthalmos, Clinodactyly OMIM:618460
Degcags Syndrome
Toe syndactyly, Short thumb, Preaxial hand polydactyly, Genu valgum, Polydactyly, Talipes equinov... OMIM:619488
Histiocytoid Cardiomyopathy
Congenital aphakia, Hydrocephalus, Microphthalmia ORPHA:137675
Combined Pituitary Hormone Deficiencies, Genetic Forms
Abnormal digit morphology, Polydactyly, Holoprosencephaly, Septo-optic dysplasia, Optic nerve hyp... ORPHA:95494
Fontaine Progeroid Syndrome
Short distal phalanx of finger, Umbilical hernia, Absent distal phalanges, Neonatal death, Deep p... OMIM:612289
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Tapered finger, Small hand, Hip dysplasia, Microphthalmia OMIM:620005
Legius Syndrome
Clinodactyly of the 5th finger, Polydactyly ORPHA:137605
Fraser Syndrome 2
Cutaneous syndactyly, Microphthalmia OMIM:617666
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Culler-Jones Syndrome
Postaxial polydactyly OMIM:615849
Neuroocular Syndrome 1
Prominent fingertip pads, Umbilical hernia, Tibial torsion, Hypoplasia of the fovea, Tapered fing... OMIM:619539
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short femur, Short humerus, Polydactyly ORPHA:17
Charge Syndrome
Bifid femur, Short thumb, Umbilical hernia, Absent radius, Unilateral microphthalmos, Anophthalmi... OMIM:214800
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Clinodactyly of the 5th finger, Hip dysplasia, Syndactyly, Microphthalmia OMIM:616975
Townes-Brocks Syndrome
Toe clinodactyly, Ulnar deviation of finger, Broad thumb, Toe syndactyly, Preaxial hand polydacty... ORPHA:857
Microphthalmia, Syndromic 3
Optic nerve aplasia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:206900
Loeys-Dietz Syndrome 2
Joint contracture of the hand, Umbilical hernia, Absent distal phalanges, Arachnodactyly, Talipes... OMIM:610168
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Tetraamelia Syndrome 1
Hypoplastic pelvis, Hydrocephalus, Microphthalmia OMIM:273395
Papillorenal Syndrome
Microphthalmia OMIM:120330
Fraser Syndrome 1
Bilateral microphthalmos, Myelomeningocele, Cutaneous finger syndactyly, Wide pubic symphysis, En... OMIM:219000
Treacher-Collins Syndrome
Branchial fistula, Encephalocele, Microphthalmia ORPHA:861
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Short 5th toe, 2-4 toe cutaneous syndactyly, Polydactyly, Hallux valgus, Abnormal toe morphology,... ORPHA:268261
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Microphthalmia, Syndromic 9
Anophthalmia, Bilateral microphthalmos, Neonatal death OMIM:601186
Phace Association
Optic nerve hypoplasia, Microphthalmia OMIM:606519
Aicardi Syndrome
Small hand, Hip dysplasia, Microphthalmia ORPHA:50
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Metaphyseal widening, Tibial bowing, Microphthalmia OMIM:259770
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Branchial anomaly, Postaxial polydactyly, Talipes equinovarus, Hip dysplasia, Optic nerve hypoplasia ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Branchial anomaly, Postaxial polydactyly, Talipes equinovarus, Hip dysplasia, Optic nerve hypoplasia ORPHA:352665
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Broad hallux, Branchial cyst, Clinodactyly, Single transverse palmar crease, Microphthalmia OMIM:620186
Simpson-Golabi-Behmel Syndrome, Type 1
Short distal phalanx of finger, Broad thumb, Umbilical hernia, Short finger, Short greater sciati... OMIM:312870
Pierson Syndrome
Hypoplasia of the iris, Rieger anomaly, Macular hypoplasia, Hypoplasia of the ciliary body, Micro... OMIM:609049
Rabson-Mendenhall Syndrome
Polydactyly ORPHA:769
Oculocerebrorenal Syndrome Of Lowe
Abnormal epiphysis morphology, Umbilical hernia, Genu valgum, Microphthalmia, Buphthalmos, Abnorm... ORPHA:534
Frontofacionasal Dysplasia
Cranium bifidum occultum, Microphthalmia OMIM:229400
Trichothiodystrophy
Clubbing, Bilateral microphthalmos, Umbilical hernia ORPHA:33364
Lacrimoauriculodentodigital Syndrome 1
Bilateral triphalangeal thumbs, Short thumb, Broad hallux, Preaxial polydactyly, Radial deviation... OMIM:149730
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Holoprosencephaly 1
Alobar holoprosencephaly, Ethmocephaly, Microphthalmia OMIM:236100
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Microphthalmia