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Gene: Zc3h4 MGI:2682314

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Gene Summary

Name:
zinc finger CCCH-type containing 4
Synonyms:
Kiaa1064-hp,  Bwq1,  LOC330474

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
anophthalmia Zc3h4em1(IMPC)Mbp HET E15.5 0.00
embryonic lethality prior to organogenesis Zc3h4em1(IMPC)Mbp HOM   E9.5 0.00
microphthalmia Zc3h4em1(IMPC)Mbp HET E15.5 0.00
preweaning lethality, complete penetrance Zc3h4em1(IMPC)Mbp HOM   Early adult 0.00
polydactyly Zc3h4em1(IMPC)Mbp HET E15.5 0.00
abnormal eye morphology Zc3h4em1(IMPC)Mbp HET Early adult 0.00
microcephaly Zc3h4em1(IMPC)Mbp HET E15.5 0.00
abnormal coat/hair pigmentation Zc3h4em1(IMPC)Mbp HET Early adult 1.27×10-06
prenatal lethality prior to heart atrial septation Zc3h4em1(IMPC)Mbp HOM   E15.5 0.00
abnormal epididymis morphology Zc3h4em1(IMPC)Mbp HET Early adult 0.00
enlarged epididymis Zc3h4em1(IMPC)Mbp HET Early adult 0.00
spina bifida Zc3h4em1(IMPC)Mbp HET E15.5 0.00
increased circulating serum albumin level Zc3h4em1(IMPC)Mbp HET   Early adult 4.39×10-05
syndactyly Zc3h4em1(IMPC)Mbp HET E15.5 0.00
hemorrhage Zc3h4em1(IMPC)Mbp HET E15.5 0.00

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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.

X-ray

XRay Images Whole Body Dorso Ventral

55 Images

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X-ray

XRay Images Whole Body Lateral Orientation

23 Images

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Histopathology

Images

3 Images

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Human diseases caused by Zc3h4 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Zc3h4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Gombo Syndrome
Microphthalmia, Radial deviation of finger, Microcephaly, Brachydactyly, Clinodactyly OMIM:233270
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl... OMIM:174500
Synpolydactyly 1
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... OMIM:186000
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Macrocephaly, Megalencephaly, Hydrocephalus, Polymicrogyria, Postaxial hand polydactyly, Syndacty... OMIM:615938
Syndactyly, Type Iv
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... OMIM:186200
Syndactyly Type 1
Toe syndactyly, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, 3-4 finger... ORPHA:93402
Syndactyly, Type Iii
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Toe syndactyly, Short 5th finger, 3-4... OMIM:186100
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Triphalangeal Thumb With Polysyndactyly
Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po... OMIM:190605
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger symphalangism, Macrocephaly, Reduced proximal interphalangeal joint space, Short distal ph... ORPHA:3246
Spinal Muscular Atrophy With Mental Retardation
Microcephaly, Syndactyly OMIM:271109
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly OMIM:234280
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Macrocephaly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped met... OMIM:174200
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi... OMIM:113100
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor... ORPHA:1891
Camptosynpolydactyly, Complex
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly OMIM:607539
Nevus Comedonicus Syndrome
Preaxial polydactyly, Spina bifida occulta, Finger syndactyly, Spina bifida, Microcephaly, Toe sy... ORPHA:64754
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Holoprosencephaly, Anophthalmia OMIM:611638
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microcephaly, Microphthalmia OMIM:616335
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Brachydactyly, Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... OMIM:112600
Microphthalmia, Isolated 4
Postaxial polydactyly, Microphthalmia OMIM:613094
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Brachydactyly Type A7
Finger symphalangism, Short middle phalanx of the 5th toe, Clinodactyly of the 5th finger, Sandal... ORPHA:93397
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Meckel Syndrome, Type 8
Polydactyly, Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia, Microcephaly, ... OMIM:613885
Jawad Syndrome
Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th finger, 4-5 toe sy... OMIM:251255
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Microcephaly, 2-4 toe syndactyly, Syndactyly OMIM:241000
Acropectorovertebral Dysplasia
Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of carpal bones, Spina bifi... ORPHA:957
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Mmep Syndrome
Microcephaly, Microphthalmia, Triphalangeal thumb, Split foot ORPHA:3434
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Syndactyly Type 5
Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge... ORPHA:93406
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Syndactyly Type 3
Finger syndactyly, Camptodactyly of finger, Short toe ORPHA:93404
Congenital Varicella Syndrome
Microcephaly, Microphthalmia, Cerebral cortical atrophy, Micromelia ORPHA:291
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Microcephaly, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of ... OMIM:600384
Wahab Syndrome
Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,... OMIM:615170
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Microphthalmia, Microcephaly, Agenesis of corpus callosum, Cerebellar hypopla... OMIM:616570
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Microphthalmia, Anophthalmia, Dandy-Walker malformation, Orbit... OMIM:164180
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Acalvaria
Hydrocephalus, Postaxial hand polydactyly, Spina bifida, Holoprosencephaly, Aplasia/Hypoplasia of... ORPHA:945
Acropectorovertebral Dysplasia
Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpal bones, Radial deviation of th... OMIM:102510
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P... OMIM:618167
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis ORPHA:71289
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Thin corpus callosum, Cerebellar vermis hypoplasia, Cortical dysplasia, Hypoplasi... OMIM:615771
Ulnar Hemimelia
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... ORPHA:93320
Frontal Encephalocele
Macrocephaly, Encephalocele, Hydrocephalus, Cerebral calcification, Spina bifida, Aplasia/Hypopla... ORPHA:1931
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Camptodactyly, Spina bifida, Dermatoglyphic ridges abnormal, Small hypothenar eminence, Small the... OMIM:211960
Ectrodactyly-Polydactyly Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp... ORPHA:1892
Santos Syndrome
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... OMIM:613005
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Aplas... OMIM:609432
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s... ORPHA:157801
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ... OMIM:605289
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia OMIM:600776
Anencephaly 2
Anencephaly, Anophthalmia OMIM:619452
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Inferior cerebellar vermis hypoplasia, Proximal placement of thumb, Anophthalmia,... ORPHA:139471
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Liebenberg Syndrome
Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia... OMIM:186550
Crossed Polysyndactyly
Finger syndactyly, Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb ORPHA:2935
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands OMIM:185900
Microphthalmia With Limb Anomalies
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Microphthalmia, Sandal g... OMIM:206920
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Brachydactyly, Aplasia of the middle phalanx of the hand, Dilated cardiomyopathy, Cli... OMIM:610140
Humero-Radial Synostosis
Tarsal synostosis, Abnormality of the wrist, Aplasia/Hypoplasia of the thumb, Meningocele, Microc... ORPHA:3265
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Microcephaly-Cardiomyopathy
Microcephaly, Dilated cardiomyopathy, Clinodactyly of the 5th finger, Sandal gap OMIM:251220
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the distal phalanx of the hallux, Aplasia/Hypoplasia of the phalanges of th... ORPHA:488232
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Oligodactyly, Tibial bowi... ORPHA:93323
Adams-Oliver Syndrome 4
Microphthalmia, Absent middle phalanx of the 3rd toe, Aplasia of the distal phalanges of the toes... OMIM:615297
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Microcephaly, Radioulnar synostosis, Abnormali... ORPHA:3268
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Craniotelencephalic Dysplasia
Microphthalmia, Hydrocephalus, Septo-optic dysplasia, Microcephaly, Agenesis of corpus callosum, ... ORPHA:1528
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly, Occipital encephalocele, Agenesis of cerebellar vermis OMIM:213010
Greig Cephalopolysyndactyly Syndrome
Macrocephaly, Hydrocephalus, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Broad ha... ORPHA:380
15Q11Q13 Microduplication Syndrome
Finger syndactyly, Macrocephaly, Clinodactyly of the 5th finger ORPHA:238446
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Aphalangy-Syndactyly-Microcephaly Syndrome
Abnormal metacarpal morphology, Microcephaly, Aplasia/Hypoplasia of the distal phalanges of the t... ORPHA:1113
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Upper limb phocomelia, Abnormal hip bone morphology, Syndactyly ORPHA:294975
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly OMIM:615983
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Clinodactyly, Microphthalmia, Syndactyly, Brachydactyly OMIM:610023
Split-Hand/Foot Malformation 6
Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly OMIM:225300
Fanconi Anemia, Complementation Group G
Microcephaly, Abnormal thumb morphology, Microphthalmia OMIM:614082
Syndactyly, Type V
Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas... OMIM:186300
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... OMIM:610713
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age ORPHA:356996
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Foot oligodactyly, Syn... OMIM:183600
Meckel Syndrome, Type 2
Polydactyly, Microphthalmia, Anencephaly, Encephalocele, Meningocele, Dandy-Walker malformation, ... OMIM:603194
Joubert Syndrome 22
Hypoplasia of the corpus callosum, Microphthalmia, 2-3 toe syndactyly, Postaxial hand polydactyly... OMIM:615665
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Microphthalmia, Anencephaly, Encephalocele, Meningocele, Hydro... OMIM:611134
Biemond Syndrome Type 2
Hydrocephalus, Preaxial polydactyly, Microphthalmia ORPHA:141333
Tietz Syndrome
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... ORPHA:42665
Meckel Syndrome, Type 5
Occipital encephalocele, Microphthalmia, Anencephaly, Postaxial hand polydactyly, Bowing of the l... OMIM:611561
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Lisse... OMIM:218670
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Seckel Syndrome 2
Microphthalmia, Clinodactyly of the 5th finger, Microcephaly, Basal ganglia calcification, Heart ... OMIM:606744
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Anophthalmia Plus Syndrome
Deviation of finger, Anophthalmia, Spina bifida ORPHA:1104
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hypoplasia of the corpus callosum, Microphthalmia, Abnormal left ventricular function, Focal cort... OMIM:613155
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Bilateral microphthalmos, Prominent protruding coccyx, Hydranenc... ORPHA:2839
Lissencephaly 8
Hypoplasia of the corpus callosum, Occipital encephalocele, Microphthalmia, Polymicrogyria, Type ... OMIM:617255
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Microphthalmia, Megalencephaly, Cavum septum pellucidum, Hydrocephalus, Polymicrogyr... OMIM:602501
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Brachydactyly Type B
Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy... ORPHA:93383
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Hypoplasia of the corpus callosum, Macrocephaly, Spindle-shaped finger, Genu va... ORPHA:166024
Feingold Syndrome Type 2
Microcephaly, Short middle phalanx of finger, Short thumb, Brachydactyly, Toe syndactyly ORPHA:391646
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida ORPHA:2476
Hydrolethalus
Microphthalmia, Anencephaly, Anophthalmia, Hydrocephalus, Postaxial hand polydactyly, Micromelia,... ORPHA:2189
Septooptic Dysplasia
Polydactyly, Short finger, Optic disc hypoplasia, Optic nerve hypoplasia, Agenesis of corpus call... OMIM:182230
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Schisis Association
Anencephaly, Encephalocele, Micromelia, Microcephaly, Spina bifida ORPHA:63862
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Slender di... OMIM:603546
Brachydactyly Type B2
Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang... ORPHA:140908
2Q24 Microdeletion Syndrome
Microphthalmia, Bullet-shaped distal phalanx of the hallux, Camptodactyly of finger, Hand clenchi... ORPHA:1617
Bardet-Biedl Syndrome 22
Microcephaly, Polydactyly, Macrocephaly, Postaxial foot polydactyly OMIM:617119
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger OMIM:313350
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Spinal dysraphism ORPHA:1114
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype... ORPHA:189
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity ORPHA:293964
Camptodactyly Syndrome, Guadalajara Type 1
Cubitus valgus, Scapular winging, Spina bifida, Microcephaly, Camptodactyly of finger, Short toe,... ORPHA:1327
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Microphthalmia, Microcephaly, Hypoplasia of the pons, Simplified gyral pattern,... OMIM:616171
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Czeizel-Losonci Syndrome
Spina bifida occulta, Hitchhiker thumb, Hydrocephalus, Single transverse palmar crease, Ectrodact... ORPHA:2437
Split-Foot Malformation With Mesoaxial Polydactyly
Split hand, 4-5 toe syndactyly, Split foot, 1-2 toe syndactyly, Mesoaxial hand polydactyly OMIM:616890
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Cerebellar hypoplasia, Type II lissencephaly, Microphthalmia OMIM:614830
Acropectoral Syndrome
Preaxial polydactyly, Triphalangeal thumb, Partial duplication of thumb phalanx OMIM:605967
Synpolydactyly 2
Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car... OMIM:608180
Bardet-Biedl Syndrome 7
Polydactyly, 2-3 toe syndactyly, Clinodactyly, Postaxial polydactyly OMIM:615984
Curry-Jones Syndrome
Microphthalmia, Finger syndactyly, Broad thumb, Foot polydactyly, Abnormality of thumb phalanx, A... ORPHA:1553
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Short fifth metatarsal, Short middle phalanx of the 5th finger, Symphalangism affe... ORPHA:93409
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Xk Aprosencephaly Syndrome
Microcephaly, Microphthalmia, Abnormal morphology of the radius ORPHA:3469
Hartsfield Syndrome
Microphthalmia, Encephalocele, Split hand, Lobar holoprosencephaly, Aplasia/Hypoplasia of the rad... ORPHA:2117
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypospadias, Hypopigmentation of hair ORPHA:1355
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Macrocephaly, Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Temtamy Syndrome
Microphthalmia, Macrocephaly, Clinodactyly of the 5th finger, Short toe, Brachydactyly, Aplasia/H... ORPHA:1777
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Macrocephaly, Rhizomelia, Hydrocephalus, Hypoplastic iliac wing, Metaphyseal cupp... OMIM:300863
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Frontonasal Dysplasia 1
Microphthalmia, Radial deviation of finger, Pectoral muscle hypoplasia/aplasia, Postaxial hand po... OMIM:136760
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Macrocephaly at birth, Occipital encephalocele, Microphthalmia, Hydrocephalus, Type II lissencephaly ORPHA:324416
Carpenter Syndrome
Polydactyly, Genu valgum, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly,... ORPHA:65759
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Triphalangeal thumb, Proxi... ORPHA:1120
Femur-Fibula-Ulna Complex
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... ORPHA:2019
Xeroderma Pigmentosum, Complementation Group G
Microcephaly, Microphthalmia OMIM:278780
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Aplasia/Hypoplasia of the thumb, Finger s... ORPHA:1908
Greig Cephalopolysyndactyly Syndrome
Broad thumb, Syndactyly, Umbilical hernia, Hydrocephalus, Postaxial hand polydactyly, Broad hallu... OMIM:175700
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Osseous finger syndactyly, 3-4 finger cutaneous syndactyly, Triangular shaped distal phalanx of t... ORPHA:370010
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... OMIM:619947
Microphthalmia, Syndromic 8
Microcephaly, Microphthalmia, Split foot OMIM:601349
Braddock-Carey Syndrome 2
Microcephaly, Microphthalmia, Clinodactyly OMIM:619981
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
1-4 finger syndactyly, Split hand, Camptodactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, 2-3 ... OMIM:225280
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Obesity, Truncal obesity OMIM:240900
Nanophthalmos
Microphthalmia ORPHA:35612
Dihydropyrimidine Dehydrogenase Deficiency
Microcephaly, Microphthalmia, Cerebral atrophy, Agenesis of corpus callosum OMIM:274270
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcephaly, Microphthalmia ORPHA:2528
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Meckel Syndrome, Type 11
Polydactyly, Occipital encephalocele OMIM:615397
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Walker-Warburg Syndrome
Microphthalmia, Abnormal cortical gyration, Macrocephaly, Lissencephaly, Hydrocephalus, Dandy-Wal... ORPHA:899
Cofs Syndrome
Microphthalmia, Cerebral calcification, Microcephaly, Cerebral cortical atrophy, Camptodactyly of... ORPHA:1466
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Isolated Split Hand-Split Foot Malformation
Aniridia, Finger syndactyly, Oligodactyly, Split hand, Absent hand ORPHA:2440
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
17Q12 Microduplication Syndrome
Finger syndactyly, Cortical dysplasia, Microphthalmia, Toe syndactyly ORPHA:261272
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Hypomelanosis Of Ito
Cerebral atrophy, Radial deviation of finger, Macrocephaly, Microcephaly, Hand polydactyly, Synda... OMIM:300337
Pelvis-Shoulder Dysplasia
Microphthalmia, Clinodactyly of the 5th finger, Spina bifida occulta, Hypoplastic acetabulae, Sho... OMIM:169550
Trisomy 1Q
Macrocephaly, Anophthalmia, Hydrocephalus, Arachnodactyly, Camptodactyly of finger, Toe syndactyl... ORPHA:261344
Proximal Symphalangism
Tarsal synostosis, Abnormality of the wrist, Clinodactyly of the 5th finger, Abnormal metacarpal ... ORPHA:3250
Adams-Oliver Syndrome 3
Short 5th toe, Short metatarsal, Absent toe, 2-3 toe syndactyly, Microcephaly, Short palm, Short ... OMIM:614814
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syndactyly, Syncope, Aborted... OMIM:618447
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Brachydactyly, Type B2
Aplasia/Hypoplasia of the distal phalanges of the hand, Tarsal synostosis, Distal symphalangism o... OMIM:611377
Nanophthalmos 4
Microphthalmia OMIM:615972
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Linear Skin Defects With Multiple Congenital Anomalies 2
Hypoplasia of the corpus callosum, Microphthalmia, Sandal gap, Pulmonary arterial hypertension, M... OMIM:300887
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Intellectual Developmental Disorder, Autosomal Dominant 72
Microcephaly, Broad palm, Macrocephaly, Spina bifida OMIM:620439
Facial Clefting, Oblique, 1
Microphthalmia, Deep palmar crease OMIM:600251
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morpho... ORPHA:2378
Microphthalmia With Limb Anomalies
Bilateral single transverse palmar creases, Microphthalmia, Sandal gap, Abnormality of the upper ... ORPHA:1106
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the pons, Occipital cortical atrophy, Anophthalmia, Hypoplasia of the corpus callosum ORPHA:411986
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Microcephaly, Syndactyly, Pa... OMIM:619091
Obesity And Hypopigmentation
Obesity, Overgrowth OMIM:620195
Fountain Syndrome
Macrocephaly, Abnormal metacarpal morphology, Spina bifida occulta, Spina bifida, Large hands, Co... ORPHA:3219
Warburg Micro Syndrome 1
Cerebral atrophy, Hypoplasia of the corpus callosum, Microphthalmia, Cerebellar vermis hypoplasia... OMIM:600118
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Bardet-Biedl Syndrome 4
Polydactyly, Syndactyly, Brachydactyly OMIM:615982
Fanconi Anemia, Complementation Group J
Microphthalmia, Short thumb OMIM:609054
Fanconi Anemia, Complementation Group R
Microphthalmia, Radial dysplasia, Hydrocephalus, Tethered cord, Microcephaly, Absent thumb OMIM:617244
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Macrocephaly, Rhizomelia, Anophthalmia, 2-3 toe syndactyly, 3-4 finger syndactyly OMIM:615877
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:607624
Curry-Jones Syndrome
Microphthalmia, Megalencephaly, Polymicrogyria, Triphalangeal hallux, Lipomyelomeningocele, Hemim... OMIM:601707
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Aminopterin Syndrome Sine Aminopterin
Megalencephaly, Macrocephaly, Microcephaly, Arachnodactyly, Rudimentary postaxial polydactyly of ... OMIM:600325
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Joubert Syndrome 40
Postaxial polydactyly, Optic nerve hypoplasia OMIM:619582
Solitary Median Maxillary Central Incisor
Microcephaly, Microphthalmia, Holoprosencephaly, Anophthalmia OMIM:147250
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Orofaciodigital Syndrome Xviii
Preaxial polydactyly, Genu valgum, Sandal gap, Single transverse palmar crease, Postaxial polydac... OMIM:617927
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cerebral atrophy, Microphthalmia, Microcephaly, Simplified gyral pattern, Pachygyria, Cerebellar ... OMIM:251270
Neu-Laxova Syndrome 2
Rocker bottom foot, Finger syndactyly, Spina bifida, Microcephaly, Toe syndactyly, Cerebellar hyp... OMIM:616038
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Type II lissencephaly, Polymicrogyria, Hyp... OMIM:615181
Albinism, Oculocutaneous, Type Iv
Albinism, Blue irides, Hypopigmentation of hair OMIM:606574
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Split hand, Split foot, Cutaneous finger syndactyly, Toe syndactyly DECIPHER:46
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ... ORPHA:2141
Meckel Syndrome, Type 3
Polydactyly, Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Postaxial hand po... OMIM:607361
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Woolly Hair Nevus
Woolly scalp hair, Heterochromia iridis, Curly hair, Precocious puberty, Congenital posterior occ... ORPHA:79414
Chiari Malformation Type Ii
Syringomyelia, Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Agenesis of co... OMIM:207950
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia, Rhizomelia, Hydrocephalus, Hypoplastic iliac wing, Abnormality of the calcaneus, ... ORPHA:163966
Pierpont Syndrome
Short finger, Microphthalmia, Abnormal cortical gyration, Deep palmar crease, Prominent fingertip... ORPHA:487825
Craniorachischisis
Sirenomelia, Anencephaly, Bifid sternum, Myelomeningocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hypoplasia of the corpus callosum, Megalencephaly, Macrocephaly, Abnormally large globe, Hydrocep... OMIM:603387
Periventricular Nodular Heterotopia 1
Hypoplasia of the corpus callosum, Short finger, Thin corpus callosum, Cerebral hemorrhage, Synda... OMIM:300049
Microphthalmia, Syndromic 13
Microcephaly, Microphthalmia OMIM:300915
Trisomy 13
Bilateral single transverse palmar creases, Microphthalmia, Anophthalmia, Postaxial hand polydact... ORPHA:3378
Joubert Syndrome 16
Polydactyly, Dandy-Walker malformation, Encephalocele OMIM:614465
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Thin corpus callosum, Cubitus valgus, Camptodactyly, Microcephaly, Down-sloping s... OMIM:619694
Intellectual Developmental Disorder, Autosomal Dominant 4
Short toe, Syndactyly OMIM:612581
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Fatco Syndrome
Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli... ORPHA:2492
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Hydrocephalus, Dandy-Walker malformation, Type II lissencephaly, Agyria, Hypoplas... OMIM:613153
Moebius Syndrome
Microphthalmia, Radial deviation of finger, Split hand, Abnormal pelvic girdle bone morphology, C... OMIM:157900
Summitt Syndrome
Short 4th metacarpal, Macrocephaly, Genu valgum, Clinodactyly of the 5th finger, Finger syndactyl... ORPHA:3210
Adams-Oliver Syndrome 2
Cerebral atrophy, Microphthalmia, Macrocephaly, Hydrocephalus, Polymicrogyria, Single transverse ... OMIM:614219
Cerebrooculonasal Syndrome
Postaxial hand polydactyly, Anophthalmia ORPHA:66625
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Patellar aplasia, Synda... OMIM:135750
Pierpont Syndrome
Short finger, Microphthalmia, Deep palmar crease, Prominent fingertip pads, Microcephaly, Short p... OMIM:602342
Gordon Syndrome
Finger syndactyly, Camptodactyly of finger, Clinodactyly of the 5th finger ORPHA:376
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum ORPHA:77298
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia... OMIM:619868
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Microphthalmia, Rhizomelia, Proximal placement of thumb, Bowing o... ORPHA:93267
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Hypoplasia of the corpus callosum, Microphthalmia, Sandal gap, Joint contracture of the 5th finge... OMIM:618914
Chromosome 17P13.1 Deletion Syndrome
Proximal placement of thumb, Hydrocephalus, Elbow flexion contracture, Short foot, Spina bifida, ... OMIM:613776
Nail-Patella Syndrome
Limited elbow extension, Microphakia, Clinodactyly of the 5th finger, Patellar hypoplasia, Glenoi... OMIM:161200
Nephronophthisis 15
Cerebellar vermis hypoplasia, Polydactyly OMIM:614845
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Abnormality of the hand, Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda... OMIM:246570
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia OMIM:613752
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Camptobrachydactyly
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Camptodactyly of finger, Brachydactyly, Ulnar... ORPHA:1319
Grange Syndrome
Short palm, Hypertension, Aortic regurgitation, Syndactyly ORPHA:79094
Cerebrooculofacioskeletal Syndrome 4
Rocker bottom foot, Adducted thumb, Bilateral microphthalmos, Flexion contracture of toe, Flared ... OMIM:610758
Prader-Willi Syndrome Due To Imprinting Mutation
External genital hypoplasia, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopig... ORPHA:177910
Focal Dermal Hypoplasia
Microphthalmia, Hypoplasia of the iris, Finger syndactyly, Short clavicles, Split hand, Hypoplast... ORPHA:2092
Al-Gazali-Bakalinova Syndrome
Hypoplasia of the corpus callosum, Polydactyly, Macrocephaly, Genu valgum, Tapered finger, Epiphy... OMIM:607131
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613265
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe, Lissencephaly, Hydrocephalus, Progressive microcephaly, T... OMIM:615249
Mesomelic Dysplasia, Nievergelt Type
Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm... ORPHA:2633
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Abnormal cortical gyration, Abnormal metacarpal morphology, Anophthalmia, Abnorma... ORPHA:2538
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu... OMIM:274000
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ... ORPHA:1916
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Abnormality of the hand, Microph... ORPHA:508498
Mosaic Trisomy 9
Rocker bottom foot, Microphthalmia, Finger clinodactyly, Deep palmar crease, Dandy-Walker malform... ORPHA:99776
Joubert Syndrome 18
Occipital encephalocele, Bowing of the long bones, Camptodactyly, Postaxial polydactyly, Agenesis... OMIM:614815
Meckel Syndrome
Microphthalmia, Anencephaly, Encephalocele, Anophthalmia, Hydrocephalus, Dandy-Walker malformatio... ORPHA:564
Basal Cell Nevus Syndrome 1
Polydactyly, Short 4th metacarpal, Microphthalmia, Macrocephaly, Palmar pits, Hydrocephalus, Calc... OMIM:109400
Monosomy 5P
Microcephaly, Finger syndactyly, Small hand ORPHA:281
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Sclerosteosis
Diaphyseal undertubulation, Finger syndactyly, 2-3 finger syndactyly, Curved distal phalanges of ... ORPHA:3152
Cerebrooculonasal Syndrome
Hypoplasia of the corpus callosum, Macrocephaly, Encephalocele, Anophthalmia, Cerebellar vermis h... OMIM:605627
Bardet-Biedl Syndrome 9
Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Syndactyly, Brachydactyly, Postax... OMIM:615986
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Hypoplasia of the corpus callosum, Short metatarsal, Sandal gap, Cone-shaped epiphyses of the pha... OMIM:617102
Caudal Duplication
Spinal cord lesion, Myelomeningocele, Spina bifida ORPHA:1756
Adiposis Dolorosa
Obesity OMIM:103200
Brachydactyly, Type B1
Aplasia/Hypoplasia of the distal phalanges of the hand, Short long bone, Camptodactyly, Type B br... OMIM:113000
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo... OMIM:193510
Adams-Oliver Syndrome
Periventricular leukomalacia, Gastrointestinal hemorrhage, Microphthalmia, Abnormal metacarpal mo... ORPHA:974
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Meckel Syndrome, Type 10
Occipital encephalocele, Anencephaly, Dandy-Walker malformation, Postaxial hand polydactyly, Camp... OMIM:614175
Joubert Syndrome 14
Hypoplasia of the corpus callosum, Microphthalmia, Encephalocele, Meningocele, Cerebellar vermis ... OMIM:614424
Cousin Syndrome
Microphthalmia, Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypopl... OMIM:260660
Terminal Osseous Dysplasia
Mesomelic arm shortening, Abnormal hand bone ossification, Camptodactyly of toe, Camptodactyly of... OMIM:300244
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Myelomeningocele... ORPHA:93322
Diarrhea 13
Hypoalbuminemia OMIM:620357
Camptobrachydactyly
Congenital finger flexion contractures, Hand polydactyly, Short toe, Syndactyly, Brachydactyly OMIM:114150
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Spina bifida ORPHA:2345
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... OMIM:203200
Diabetic Embryopathy
Hydrocephalus, Microcephaly, Aplasia/Hypoplasia affecting the eye, Spinal dysraphism, Aplasia/Hyp... ORPHA:1926
14Q22Q23 Microdeletion Syndrome
Bilateral single transverse palmar creases, Short 4th metacarpal, Clinodactyly of the 5th finger,... ORPHA:264200
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Microcephaly-Micromelia Syndrome
Aqueductal stenosis, Microphthalmia, Oligodactyly, Forearm undergrowth, Micromelia, Microcephaly,... OMIM:251230
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Res... ORPHA:88630
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Congenital Toxoplasmosis
Microcephaly, Cerebral calcification, Microphthalmia, Hydrocephalus ORPHA:858
Cerebrocostomandibular Syndrome
Clinodactyly of the 5th finger, Hydranencephaly, Meningocele, Cerebral calcification, Porencephal... ORPHA:1393
Orofaciodigital Syndrome Iv
Cerebral atrophy, Short finger, Porencephalic cyst, Foot polydactyly, Postaxial polydactyly, Hand... OMIM:258860
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Obesity ORPHA:71529
Trisomy 18
Bilateral single transverse palmar creases, Microphthalmia, Anencephaly, Abnormal hip bone morpho... ORPHA:3380
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Anophthalmia, Tricuspid regurgitation, Camptodactyly of finger, Umbilical hernia, Ulnar... ORPHA:1101
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Microphthalmia, Symphalangism affecting the phalanges of the hand ORPHA:2547
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Macrocephaly, Hydrocephalus, Polymicrogyria, Finger syndactyly, Cerebral ischemia, Foot polydacty... ORPHA:60040
Iniencephaly
Rocker bottom foot, Syringomyelia, Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Dandy-W... ORPHA:63259
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:619165
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight OMIM:620065
Cerebrooculofacioskeletal Syndrome 2
Microcephaly, Camptodactyly of finger, Microphthalmia, Rocker bottom foot OMIM:610756
Bresek Syndrome
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Postaxial hand polydactyly, Microcephaly ORPHA:85284
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir... ORPHA:895
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Vacterl With Hydrocephalus
Aqueductal stenosis, Hypoplasia of the radius, Microphthalmia, Anophthalmia, Hydrocephalus, Spina... ORPHA:3412
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Flexion contracture of toe, Finger joint contracture, Cerebral cortical atrophy, ... ORPHA:48431
Bartsocas-Papas Syndrome 2
2-5 finger cutaneous syndactyly, Absent distal phalanges, Microphthalmia, Small hand OMIM:619339
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Boomerang Dysplasia
Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Finger synd... ORPHA:1263
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Microcephaly, Polydactyly, Hypoplastic ischia OMIM:616910
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Hypoplasia of the corpus callosum, Preaxial polydactyly, Bilateral talipes equinovarus, Microceph... OMIM:618142
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Polydactyly, Upper limb asymmetry, Relative macrocephaly, Clinodactyly of the 5th finger ORPHA:231140
Temtamy Syndrome
Microphthalmia, Aortic regurgitation, Short 2nd toe, Agenesis of corpus callosum, Brachydactyly, ... OMIM:218340
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Agenesis of corpus callosum, Lissencephaly ORPHA:99742
Neu-Laxova Syndrome 1
Rocker bottom foot, Microphthalmia, Radial deviation of finger, Primary microcephaly, Clinodactyl... OMIM:256520
Charlie M Syndrome
Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndactyly, Split hand, Brachydactyly ORPHA:1406
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cerebral cortical atrophy, Syringomyelia, Congenital bilateral hip dislocation, Syndactyly ORPHA:404451
20P13 Microdeletion Syndrome
Polydactyly, Macrocephaly, Finger syndactyly, Microcephaly, Brachydactyly, Clinodactyly ORPHA:313781
Temtamy Preaxial Brachydactyly Syndrome
Complete duplication of the middle phalanx of the 3rd finger, Radial deviation of finger, Tarsal ... ORPHA:363417
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Triphalangeal thumb, Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar kerato... ORPHA:2251
Cerebrooculofacioskeletal Syndrome 1
Rocker bottom foot, Microphthalmia, Second metatarsal posteriorly placed, Elbow flexion contractu... OMIM:214150
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:2786
Bardet-Biedl Syndrome 19
Hypoplasia of the corpus callosum, Y-shaped metacarpals, Postaxial polydactyly, Mesoaxial hand po... OMIM:615996
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Generalized hyperpigmentation, Hypopigmentation of the skin, Hypopigme... ORPHA:33445
Hypotrichosis 8
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... OMIM:278150
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Abnormal circulating creatine kinase concentration, Elevated haptoglobin level, ... OMIM:620632
Sandestig-Stefanova Syndrome
Hypoplasia of the corpus callosum, Bilateral single transverse palmar creases, Rocker bottom foot... OMIM:618804
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Joubert Syndrome 23
Dysplastic corpus callosum, Polydactyly OMIM:616490
Elejalde Neuroectodermal Melanolysosomal Syndrome
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:256710
Cat-Eye Syndrome
Microphthalmia, Hip dysplasia ORPHA:195
Focal Dermal Hypoplasia
Microphthalmia, Aniridia, Short metacarpal, Myelomeningocele, Microcephaly, Split foot, Umbilical... OMIM:305600
Holoprosencephaly
Spinal cord tumor, Microphthalmia, Macrocephaly, Encephalocele, Anophthalmia, Hydrocephalus, Dand... ORPHA:2162
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Neuralgic Amyotrophy
Upper limb amyotrophy, Scapular winging, Syndactyly ORPHA:2901
Orofaciodigital Syndrome Xvii
Polydactyly, Clubbing of fingers, Central Y-shaped metacarpal, Partial duplication of thumb phala... OMIM:617926
Mosaic Trisomy 1
Rocker bottom foot, Microphthalmia, Broad 2nd toe, Arachnodactyly, Long toe, Deviation of the 5th... ORPHA:1692
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Microphthalmia, Optic nerve hypoplasia, Polymicrogyria, Microcephaly,... OMIM:614833
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Type II lissencep... ORPHA:370959
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Secondary microcephaly, Cerebellar hypoplasia, Microphthalmia OMIM:613730
3P25.3 Microdeletion Syndrome
Microphthalmia, Proximal placement of thumb, Cerebral white matter atrophy, Pulmonic stenosis, Br... ORPHA:435638
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, In... OMIM:242150
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Ring Chromosome 21 Syndrome
Narrow palm, Microcephaly, Holoprosencephaly, Syndactyly, Clinodactyly, Small hand ORPHA:1445
3Q29 Microduplication Syndrome
Microphthalmia, Macrocephaly, Aniridia, Sandal gap, Biparietal narrowing, Microcephaly, Camptodac... ORPHA:251038
Martsolf Syndrome 1
Periventricular white matter hyperintensities, Congestive heart failure, Microphthalmia, Slender ... OMIM:212720
Ermine Phenotype
White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig... OMIM:227010
Bardet-Biedl Syndrome 16
Polydactyly OMIM:615993
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela... ORPHA:2885
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Brachydactyly, Tricuspid regurgitation OMIM:600151
Rhombencephalosynapsis
Polydactyly, Macrocephaly, Hydrocephalus, Finger syndactyly, Septo-optic dysplasia, Short phalanx... ORPHA:59315
Pfeiffer Syndrome Type 1
Aqueductal stenosis, Aplasia/Hypoplasia of the thumb, Short hallux, Finger syndactyly, Broad thum... ORPHA:93258
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610125
Monosomy 18P
Microphthalmia, Hypertension, Microcephaly, Holoprosencephaly, Brachydactyly ORPHA:1598
Neurooculocardiogenitourinary Syndrome
Secondary microcephaly, Abnormality of the palmar creases, Microphthalmia, Tricuspid regurgitation OMIM:618652
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Hypoplasia of the ulna, Microphthalmia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the... ORPHA:1352
Joubert Syndrome 7
Genu valgum, Encephalocele, Abnormal corpus callosum morphology, Postaxial hand polydactyly, Post... OMIM:611560
Craniofrontonasal Dysplasia
Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Sandal gap, Finger syndactyly,... ORPHA:1520
Houge-Janssens Syndrome 2
Hypoplasia of the corpus callosum, Hydrocephalus, Microcephaly, Postaxial polydactyly, Broad hall... OMIM:616362
Triokinase And Fmn Cyclase Deficiency Syndrome
Cerebellar hypoplasia, Dilated cardiomyopathy, Microphthalmia, Reduced systolic function OMIM:618805
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Warburg Micro Syndrome 2
Secondary microcephaly, Hypoplasia of the corpus callosum, Global brain atrophy, Clinodactyly of ... OMIM:614225
Microphthalmia-Brain Atrophy Syndrome
Microcephaly, Bilateral microphthalmos, Diffuse cerebral atrophy, Corpus callosum atrophy ORPHA:77299
Reni Syndrome
Hypertriglyceridemia, Hyperpigmentation of the skin, Hypogonadism, Hypoalbuminemia, Cryptorchidis... OMIM:617575
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Triphalangeal thumb, Abnormal metacarpal morphology, Finger synda... ORPHA:392
Immunodeficiency 61
Obesity OMIM:300310
Limb Body Wall Complex
Short umbilical cord, Aplasia/hypoplasia involving bones of the upper limbs, Anencephaly, Encepha... ORPHA:2369
Oculocutaneous Albinism Type 3
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... ORPHA:79433
Baraitser-Winter Syndrome 2
Secondary microcephaly, Microphthalmia, Pachygyria, Agenesis of corpus callosum, Lissencephaly OMIM:614583
Joubert Syndrome 33
Macrocephaly, Syndactyly OMIM:617767
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hypoplasia of the corpus callosum, Adducted thumb, Macrocephaly, Microphthalmia, Encephalocele, L... OMIM:614643
Frontorhiny
Microphthalmia, Encephalocele, Camptodactyly of finger, Basal encephalocele, Brachydactyly, Peric... ORPHA:391474
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Narrow greater sciatic notch, Microphthalmia, Rhizomelia, Flared metaphysis, Short long bone, Met... ORPHA:85167
Joubert Syndrome 20
Postaxial polydactyly, 4-5 toe syndactyly OMIM:614970
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Chylomicron Retention Disease
Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia OMIM:246700
Meckel Syndrome 14
Occipital encephalocele, Microphthalmia, Postaxial hand polydactyly, Bowing of the long bones, Tr... OMIM:619879
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Sirenomelia
Sirenomelia, Aplasia/Hypoplasia of the radius, Spina bifida ORPHA:3169
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Triphalangeal thumb, Finger syndactyly, Microcephaly, Arachnodactyly, Camptodactyly of finger, Sh... ORPHA:2994
Gracile Bone Dysplasia
Microphthalmia, Aniridia, Slender long bone, Hydrocephalus, Flared metaphysis, Brachydactyly OMIM:602361
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Microphthalmia, Short first metatarsal, Ulnar bowing, Epiphyseal stipplin... OMIM:619135
Congenital Rubella Syndrome
Microcephaly, Microphthalmia, Aplasia/Hypoplasia of the iris, Abnormal metaphysis morphology ORPHA:290
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Microphthalmia, Proximal placement of thumb, Hypoplastic pubic r... OMIM:609945
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Waardenburg-Shah Syndrome
Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ... ORPHA:897
Garg-Mishra Progeroid Syndrome
Secondary microcephaly, Microphthalmia, Slender long bone, Slender metacarpals, Broad palm, Coxa ... OMIM:620601
Orofaciodigital Syndrome Ii
Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Flared metaphysis, Hydrocephalus... OMIM:252100
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Microphthalmia, Optic nerve hypoplasia, Microlissencephaly, Sm... OMIM:617914
Charcot-Marie-Tooth Disease, Type 4B3
Microcephaly, Syndactyly OMIM:615284
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Macrocephaly, Clinodactyly of the 5th finger, Genu valgum, Prominent fingertip pads, Microcephaly... OMIM:619721
Weaver Syndrome
Abnormal metaphysis morphology, Macrocephaly, Sandal gap, Finger syndactyly, Broad thumb, Camptod... ORPHA:3447
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Finger syndactyly, Abnormal thumb morphology, Abnormality of the wrist, Proximal placement of thumb ORPHA:1825
Fanconi Anemia, Complementation Group S
Microcephaly, Clinodactyly, Microphthalmia, Proximal placement of thumb OMIM:617883
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia, Anencephaly, Encephalocele, Dandy-Walker malformation, Single transverse palmar c... OMIM:619148
Hallermann-Streiff Syndrome
Abnormality of the hand, Microphthalmia, Slender long bone, Hypertension, Pulmonary arterial hype... OMIM:234100
Rubinstein-Taybi Syndrome 2
Short 5th toe, Short first metatarsal, Prominent fingertip pads, Microcephaly, Broad thumb, Broad... OMIM:613684
1Q21.1 Microdeletion Syndrome
Microphthalmia, Clinodactyly of the 5th finger, Hydrocephalus, Microcephaly, Broad thumb, Foot po... ORPHA:250989
Cartilage-Hair Hypoplasia
Abnormal hip bone morphology, Tibial bowing, Cardiomyopathy, Mesomelia, Abnormal epiphysis morpho... ORPHA:175
Microphthalmia, Syndromic 2
Hypoplasia of the corpus callosum, 2-3 toe cutaneous syndactyly, Microphthalmia, Hammertoe, Sanda... OMIM:300166
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Microcephaly, Arachnodactyly, Clinodactyly, Syndactyly OMIM:619092
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Ethmoidal encephalocele, Optic nerve hypoplasia, Broad proximal phalang... OMIM:607597
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ... ORPHA:103910
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Abnormal femoral neck/head morphology, Crumpled long bones, Abnormal lower limb b... ORPHA:2788
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Limb-Mammary Syndrome
Split hand, Camptodactyly, Split foot, Syndactyly, Hallux valgus, Joint contracture of the hand OMIM:603543
2Q31.1 Microdeletion Syndrome
Abnormal fibula morphology, Microphthalmia, Abnormal tibia morphology, Abnormal metacarpal morpho... ORPHA:251014
Campomelic Dysplasia
Dislocated radial head, Hypoplastic iliac wing, Relative macrocephaly, Femoral bowing, Short long... OMIM:114290
Joubert Syndrome 15
Preaxial polydactyly, Exencephaly OMIM:614464
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Polydactyly, Short long bone, Brachydactyly OMIM:613819
Developmental And Epileptic Encephalopathy 1
Microcephaly, Global brain atrophy, Microphthalmia OMIM:308350
Fanconi Anemia
Hypoplasia of the ulna, Abnormal thumb morphology, Aplasia/Hypoplasia of fingers, Abnormal femur ... ORPHA:84
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Microphthalmia, Syndromic 6
Polydactyly, Abnormality of the hand, Microphthalmia, Inferior cerebellar vermis hypoplasia, Clin... OMIM:607932
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Duane-Radial Ray Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Pectoralis hypoplasia, Tr... OMIM:607323
Pseudotrisomy 13 Syndrome
Microphthalmia, Encephalocele, Hydrocephalus, Polymicrogyria, 2-3 toe syndactyly, Postaxial hand ... OMIM:264480
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Hypoplasia of the corpus callosum, Microphthalmia, Thin corpus callosum, Single transverse palmar... OMIM:614105
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia, Macrocephaly, Clinodactyly of the 5th finger, Cavum septum pellucidum, Relative m... OMIM:617306
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Short metacarpal, Syndactyly, Brachydactyl... OMIM:605282
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:277580
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia, Abnormal femoral neck/head morphology, Abnormality of the elbow, Hemiatrophy of u... ORPHA:163649
Joubert Syndrome 17
Postaxial polydactyly, Preaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Trisomy 20P
Abnormal hip bone morphology, Finger syndactyly, Spina bifida, Camptodactyly of finger, Brachydac... ORPHA:261318
Neu-Laxova Syndrome
Abnormal cortical gyration, Lissencephaly, Cerebral calcification, Dandy-Walker malformation, Pol... ORPHA:2671
Heart And Brain Malformation Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Global brain atrophy, Microphthalmia, Cerebe... OMIM:616920
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Stevenson-Carey Syndrome
Hypoplasia of the corpus callosum, Microphthalmia, Camptodactyly, Hip dysplasia, Cerebellar hypop... OMIM:611961
Silver-Russell Syndrome Due To A Point Mutation
Polydactyly, Small placenta, Clinodactyly of the 5th finger, Relative macrocephaly, Ectrodactyly,... ORPHA:397590
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Pelger-Huet Anomaly
Polydactyly, Short 4th metacarpal, Macrocephaly, Upper limb undergrowth, Short 3rd metacarpal, Um... OMIM:169400
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Microphthalmia OMIM:601794
Ring Chromosome 10 Syndrome
Microphthalmia, Tapered finger, Sandal gap ORPHA:1438
Joubert Syndrome 37
Cerebellar vermis hypoplasia, Microphthalmia, Postaxial polydactyly, Hypoplasia of the corpus cal... OMIM:619185
Chromosome 17Q12 Duplication Syndrome
Broad thumb, Microphthalmia, Brachydactyly OMIM:614526
Oculogastrointestinal Neurodevelopmental Syndrome
Microcephaly, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Oculofaciocardiodental Syndrome
Microphthalmia, Genu valgum, Cubitus valgus, Hammertoe, Clinodactyly of the 5th finger, 2-3 toe s... ORPHA:2712
Orofaciodigital Syndrome Vi
Fibular aplasia, Radial deviation of finger, Cerebellar vermis hypoplasia, Polymicrogyria, Tibial... OMIM:277170
Cockayne Syndrome Type 2
Anophthalmia, Subcortical white matter calcifications ORPHA:90322
Femoral-Facial Syndrome
Limited elbow movement, Aplasia/hypoplasia of the femur, Encephalocele, Hypoplastic acetabulae, S... OMIM:134780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hypoplasia of the corpus callosum, Microphthalmia, Macrocephaly, Cerebellar vermis hypoplasia, Ce... OMIM:616538
Bardet-Biedl Syndrome 17
Polydactyly, Mesoaxial polydactyly, Postaxial hand polydactyly, Short fourth metatarsal, Brachyda... OMIM:615994
Filippi Syndrome
Finger clinodactyly, Single transverse palmar crease, Microcephaly, 2-4 toe syndactyly, Cutaneous... OMIM:272440
Basel-Vanagaite-Smirin-Yosef Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Overlapping fingers, Microphthalmia, Cavum s... ORPHA:464738
Aicardi Syndrome
Microphthalmia, Proximal placement of thumb, Cavum septum pellucidum, Cerebellar vermis hypoplasi... OMIM:304050
Congenital Fibrinogen Deficiency
Tachycardia, Microphthalmia, Internal hemorrhage, Clubbing of fingers ORPHA:335
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Clinodactyly of the 5th finger, Hydranencephaly, Single transverse palmar crease, 2-3 toe syndact... OMIM:236500
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Subaortic Stenosis-Short Stature Syndrome
Bilateral single transverse palmar creases, Microphthalmia, Synostosis of carpal bones, Arrhythmia ORPHA:3191
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Abnormal thumb morphology, Microphthalmia, Radial club hand, Triphalangea... ORPHA:959
Marden-Walker Syndrome
Microphthalmia, Inferior cerebellar vermis hypoplasia, Dandy-Walker malformation, Camptodactyly, ... OMIM:248700
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly, Spina bifida occulta ORPHA:1514
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Ivic Syndrome
Hypoplasia of the ulna, Limited elbow movement, Hypoplasia of the radius, Preaxial polydactyly, H... OMIM:147750
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Microphthalmia, Optic nerve hypoplasia, Microcephaly, Absent thumb, Sho... OMIM:609053
Baraitser-Winter Syndrome 1
Microphthalmia, Microcephaly, Aortic valve stenosis, Duplication of phalanx of hallux, Pachygyria... OMIM:243310
Jacobsen Syndrome
Cerebral atrophy, Macrocephaly, Finger syndactyly, Spina bifida, Aortic valve stenosis, Toe clino... ORPHA:2308
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Macrocephaly, Femoral bowing, Short long bone, Acetabular spurs, Postaxial ... OMIM:615503
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplasia of the radius, Relative macrocephaly, Hypoplastic ilia, Micromelia, Postaxial polydact... OMIM:617895
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Cerebral atrophy, Hypoplasia of the corpus callosum, Microphthalmia, Cerebellar vermis hypoplasia... OMIM:618494
6P22 Microdeletion Syndrome
Hydrocephalus, Finger syndactyly, Clinodactyly ORPHA:251046
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Waardenburg Syndrome Type 1
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo... ORPHA:894
Myoclonic-Astatic Epilepsy
Microcephaly, Microphthalmia, Syndactyly ORPHA:1942
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight OMIM:614651
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Broad thumb, Umbilical herni... OMIM:304120
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia ORPHA:2470
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
2-3 toe syndactyly, Postaxial hand polydactyly, Broad hallux, 2-3 finger syndactyly, Postaxial po... OMIM:217085
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Hypopigmentation of hair, Abnormal eyebrow morphology, Generalized hirsutism, F... ORPHA:2221
Holoprosencephaly 9
Microphthalmia, Thin corpus callosum, Abnormal cortical gyration, Alobar holoprosencephaly, Hydro... OMIM:610829
Pallister-Hall Syndrome
Short 4th metacarpal, Preaxial polydactyly, Distal shortening of limbs, Microphthalmia, Y-shaped ... OMIM:146510
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Tethered cord, Microcephaly, Aortic valve stenosis, Mitral stenosis, Spinal dysraphism OMIM:617660
Acrofrontofacionasal Dysostosis 2
Microcephaly, Broad thumb, Hand polydactyly, Broad hallux, Syndactyly OMIM:239710
Cloacal Exstrophy
Abnormal fibula morphology, Abnormal tibia morphology, Absent foot, Myelomeningocele, Spina bifid... ORPHA:93929
Pfeiffer Syndrome
3-4 toe cutaneous syndactyly, Hydrocephalus, Shortening of all middle phalanges of the fingers, F... OMIM:101600
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating C-reactive pr... OMIM:616050
Oculopalatocerebral Syndrome
Microcephaly, Microphthalmia OMIM:257910
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Short long bone, Brachydactyly OMIM:615633
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Ulnar bowing, Hydrocephalus, Single transverse palmar crease, 2-3 toe synda... OMIM:617866
Ataxia-Telangiectasia
Premature graying of hair, Hypopigmentation of hair, Abnormal testis morphology, Multiple cafe-au... ORPHA:100
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Oculo-Palato-Cerebral Syndrome
Global brain atrophy, Microphthalmia, Frontal cortical atrophy, Microcephaly, Aplasia/Hypoplasia ... ORPHA:2714
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Clinodactyly of the 5th finger, Ulnar bowing, Proximal radio-ulnar synostosis, Limited pronation/... OMIM:605432
Poland Syndrome
Unilateral brachydactyly, Unilateral oligodactyly, Hypoplasia of deltoid muscle, Syndactyly OMIM:173800
Roberts Syndrome
Bilateral single transverse palmar creases, Hypoplasia of the radius, Microphthalmia, Radial devi... ORPHA:3103
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Portal hypertension, Foot oligodactyly, Syndactyly, Brachydactyly OMIM:616589
Piebaldism
Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ... ORPHA:2884
Laurence-Moon Syndrome
Polydactyly, Abnormality of the hand OMIM:245800
Triploidy
Macrocephaly, Meningocele, Hydrocephalus, Finger syndactyly, Aplasia/Hypoplasia affecting the eye... ORPHA:3376
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Cryptorchidism OMIM:608104
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Childhood-onset truncal obesity, Obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Childhood-onset truncal obesity, Obesity ORPHA:71526
Adams-Oliver Syndrome 1
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Microphthalmia, Encephalocele, P... OMIM:100300
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Limited elbow extension, Diaphyseal undertubulation, Clinodactyly of the 5th finger, Proximal pla... OMIM:620663
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Macrodactyly, Spinal dysraphism, Tethered cord, Sandal gap OMIM:612918
Chromosome 3Pter-P25 Deletion Syndrome
Microcephaly, Postaxial polydactyly, Overlapping toe, Tapered finger, Macular hypoplasia OMIM:613792
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Short finger, Microphthalmia, Rhizomelia, Flared metaphysis, Metaph... OMIM:608940
Microphthalmia, Syndromic 3
Hypoplasia of the corpus callosum, Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Microcep... OMIM:206900
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Hypospadias, Cryptorchidism, Blue irides, Fair hair OMIM:614613
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microcephaly, Abnormal palmar dermatoglyphics, Microphthalmia, Heart murmur ORPHA:2728
Basel-Vanagaite-Smirin-Yosef Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Microphthalmia, Cavum septum pellucidum, Sin... OMIM:616449
Squalene Synthase Deficiency
Hypospadias, Increased circulating farnesol concentration, Abnormality of hair pigmentation, Elev... OMIM:618156
Cutis Laxa, Autosomal Recessive, Type Iie
Clinodactyly of the 5th finger, Deep palmar crease, Syndactyly, Brachydactyly, Genu varum, Hip di... OMIM:619451
Laurence-Moon Syndrome
Bilateral single transverse palmar creases, Hand polydactyly, Finger syndactyly, Brachydactyly ORPHA:2377
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Sandal gap, Microcephaly, Holoprosencephaly, 3-4 finger cutaneous syndactyly, Cer... OMIM:612530
Kapur-Toriello Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Microphthalmia, Polymicr... OMIM:244300
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Multiple Benign Circumferential Skin Creases On Limbs
Congestive heart failure, Microphthalmia, Microcephaly, Upper limb asymmetry, Umbilical hernia ORPHA:2505
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Warburg Micro Syndrome 3
Secondary microcephaly, Hypoplasia of the corpus callosum, Microphthalmia, Clinodactyly of the 5t... OMIM:614222
Endocrine-Cerebroosteodysplasia
Preaxial polydactyly, Fibular bowing, Sandal gap, Hitchhiker thumb, Hydrocephalus, Single transve... OMIM:612651
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Syndactyly OMIM:613576
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Microphthalmi... OMIM:616300
Epidermolysis Bullosa, Lethal Acantholytic
Clinodactyly of the 5th finger, Sandal gap, Tapered distal phalanges of finger, Syndactyly, Mitte... OMIM:609638
Syngap1-Related Developmental And Epileptic Encephalopathy
Microcephaly, Postaxial polydactyly ORPHA:544254
Refsum Disease
Microphthalmia, Heart block, Hammertoe, Cardiomyopathy, Short metacarpal, Abnormal epiphysis morp... ORPHA:773
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Short long bone, Flat acetabular roof, Bowing of the long bones, Micromelia, Postaxi... OMIM:614091
Monosomy 13Q14
Hypoplasia of the corpus callosum, Microphthalmia, Clinodactyly of the 5th finger, Aplasia/Hypopl... ORPHA:1587
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm... ORPHA:79435
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Single transverse palmar crease, Microphthalmia, Hypertrophic cardiomyopathy OMIM:619053
Nance-Horan Syndrome
Microphthalmia, Short metacarpal ORPHA:627
Cranioectodermal Dysplasia
Abnormal metaphysis morphology, Rhizomelia, Clinodactyly of the 5th finger, Abnormal diaphysis mo... ORPHA:1515
Microphthalmia, Lenz Type
Microphthalmia, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Finger syndactyly, ... ORPHA:568
Desbuquois Dysplasia 2
Monkey wrench femoral neck, Short clavicles, Single transverse palmar crease, Relative macrocepha... OMIM:615777
Phakomatosis Pigmentokeratotica
Hemiatrophy, Arrhythmia, Raynaud phenomenon, Spina bifida ORPHA:2874
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Sandal gap, Short 2nd finger, 2-3 toe syndactyly, Microcephaly, Broad thumb, Broad hallux, Short ... OMIM:600987
Acrofacial Dysostosis, Rodríguez Type
Aqueductal stenosis, Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morpholog... ORPHA:1788
Congenital Sialidosis Type 2
Polydactyly, Macrocephaly, Hydrocephalus, Hypoplasia of the fovea, Umbilical hernia, Abnormal EKG... ORPHA:93400
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, Macrocephaly, Joint contracture of the 5th finger, Single transverse palmar creas... OMIM:620098
Fraser Syndrome 1
Bilateral microphthalmos, Abnormal cortical gyration, Encephalocele, Aplasia/Hypoplasia of the th... OMIM:219000
Teebi-Shaltout Syndrome
Rocker bottom foot, Caudal appendage, Microphthalmia, Single transverse palmar crease, Camptodact... OMIM:272950
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Increased body mass index OMIM:614450
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia, Sandal gap, 3-4 toe syndactyly, Broad hallux, Brachydactyly, Clinodactyly OMIM:618727
Hoxha-Aliu Syndrome
Abnormal metaphysis morphology, Contracture of the proximal interphalangeal joint of the 4th fing... OMIM:620662
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Metacarpal synostosis, Pulmonic stenosis, Broad... OMIM:212780
Leptin Deficiency Or Dysfunction
Obesity OMIM:614962
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Abnormal circulating methionine concentration, H... ORPHA:88618
Ritscher-Schinzel Syndrome 2
Clinodactyly of the 5th finger, Dandy-Walker malformation, Prominent fingertip pads, Relative mac... OMIM:300963
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Clinodactyly of the 5th finger, Syndactyly OMIM:601163
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
9Q21.13 Microdeletion Syndrome
Polydactyly, Syringomyelia, Aplasia/Hypoplasia of the corpus callosum, Hip dysplasia ORPHA:531151
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia, Encephalocele, Hydrocephalus, Polymicrogyria, Type II lissencephaly, Agyria, Hypo... OMIM:253800
Stromme Syndrome
Preaxial polydactyly, Microphthalmia, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Hydro... OMIM:243605
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyelash morphology, Sparse scalp ... ORPHA:3437
White Forelock With Malformations
Finger syndactyly, Clinodactyly of the 5th finger, Spina bifida occulta ORPHA:2475
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Microphthalmia, Microcephaly, Short palm, Short foot, Small hand OMIM:241410
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Finger syndactyly, Single transverse palmar crease, Branchial cyst, Camptodactyly, Microcephaly, ... ORPHA:435938
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Finger syndactyly, Cerebral calcification, Microcephaly, Short palm, Arachnodactyly, Toe syndactyly ORPHA:73246
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Suleiman-El-Hattab Syndrome
Polydactyly, Single transverse palmar crease, Microcephaly, Brachydactyly, Clinodactyly OMIM:618950
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Microphthalmia, Microcephaly, Vitreous hemorrhage, Retinal neovasculariza... ORPHA:891
Alkuraya-Kucinskas Syndrome
Overlapping fingers, Adducted thumb, Macrocephaly, Hydrocephalus, Dandy-Walker malformation, Over... OMIM:617822
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613266
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Short long bone, Femoral bowing... OMIM:613091
Trichohepatoenteric Syndrome 1
Trichorrhexis nodosa, Abnormality of iron homeostasis, Hypospadias, Brittle hair, Generalized hyp... OMIM:222470
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Broad distal phalanx of finger, 2-3 toe syndactyly, Postaxial polydactyly, Postax... ORPHA:404440
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Microphthalmia, Buphthalmos, Encephalocele, Hydrocephalus, Type II lissencephaly, Microcephaly, P... OMIM:613150
Waardenburg Syndrome
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal vagina ... ORPHA:3440
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Schizophrenia 1
Short proximal phalanx of the 4th toe, Syndactyly OMIM:181510
Blepharocheilodontic Syndrome 1
Cutaneous syndactyly, Neural tube defect, Clinodactyly OMIM:119580
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Galloway-Mowat Syndrome 3
Cerebral atrophy, Hypoplasia of the corpus callosum, Microphthalmia, Hypertension, Camptodactyly,... OMIM:617729
Cohen Syndrome
Microphthalmia, Genu valgum, Cubitus valgus, Abnormal hip bone morphology, Sandal gap, Clinodacty... ORPHA:193
Vater/Vacterl Association
Occipital encephalocele, Hypoplasia of the radius, Preaxial polydactyly, Triphalangeal thumb, Tet... OMIM:192350
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Clinodactyly of the 5th finger OMIM:167730
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Abnormal metacarpal morphology, Short hallux, Finger syndactyly, Abnormal corpus callosum morphol... ORPHA:3224
Acrofacial Dysostosis, Catania Type
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Spina bifida occulta,... ORPHA:1786
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Obesity OMIM:300238
Bardet-Biedl Syndrome 2
Obesity OMIM:615981
Mend Syndrome
Hypoplasia of the corpus callosum, Microphthalmia, Hydrocephalus, Dandy-Walker malformation, 2-3 ... ORPHA:401973
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:267700
Intellectual Developmental Disorder, Autosomal Dominant 23
Postaxial polydactyly, Broad distal phalanx of finger, Sandal gap OMIM:615761
Aarskog-Scott Syndrome
Congestive heart failure, Clinodactyly of the 5th finger, Finger syndactyly, Single transverse pa... ORPHA:915
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Microphthalmia, Aplasia/Hypoplasia of the thumb... ORPHA:3186
Joubert Syndrome 2
Microphthalmia, Macrocephaly, Encephalocele, Hydrocephalus, Abnormal corpus callosum morphology, ... OMIM:608091
Acrootoocular Syndrome
Short finger, Sandal gap, Short metacarpal, Small thenar eminence, Microcephaly, Prominent calcan... ORPHA:2980
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Hypertension, Microcephaly, Abnormal cerebral white matter morphology, Syndactyly,... ORPHA:2169
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia OMIM:618528
Joubert Syndrome 21
Hypoplasia of the corpus callosum, Occipital encephalocele, Encephalocele, Anophthalmia, Hypoplas... OMIM:615636
Joubert Syndrome 27
Polydactyly OMIM:617120
Rubinstein-Taybi Syndrome 1
Broad distal phalanx of finger, Dislocated radial head, Hypoplastic iliac wing, Prominent fingert... OMIM:180849
Nasopalpebral Lipoma-Coloboma Syndrome
Microcephaly, Microphthalmia, Clinodactyly of the 5th finger, Bilateral microphthalmos ORPHA:2399
Cockayne Syndrome Type 1
Hypertension, Basal ganglia calcification, Anophthalmia ORPHA:90321
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Bardet-Biedl Syndrome 6
Postaxial polydactyly, Syndactyly OMIM:605231
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
3Q29 Microdeletion Syndrome
Microphthalmia, Macrocephaly, Clinodactyly of the 5th finger, Pulmonary arterial hypertension, Mi... ORPHA:65286
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Hyperlipidemia, Iris hypopigmentation, Parti... ORPHA:79477
Fraser Syndrome
Microphthalmia, Encephalocele, Anophthalmia, Finger syndactyly, Myelomeningocele, Microcephaly, W... ORPHA:2052
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the ulna, Finger syndactyl... ORPHA:3320
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Abnormality of the hand, Bilateral microphthalmos, Camptodactyly, Syndactyly, Umbilical hernia, C... ORPHA:369891
Pagod Syndrome
Encephalocele, Meningocele, Spina bifida, Microcephaly, Arrhythmia, Sudden cardiac death ORPHA:991
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Microcephaly, Cerebellar hypoplasia, Clinodactyly, Syndactyly OMIM:618087
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Abnormal femur morphology, Tarsal sclerosis, Abnormal long bo... ORPHA:166119
Skin Creases, Congenital Symmetric Circumferential, 1
Hypoplasia of the corpus callosum, Microphthalmia, Dandy-Walker malformation, Microcephaly, Long ... OMIM:156610
Autosomal Dominant Keratitis
Bilateral microphthalmos, Corneal neovascularization, Aniridia, Hypoplastic iris stroma, Hypoplas... ORPHA:2334
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:614072
Oculodentodigital Dysplasia
Microphthalmia, Cubitus valgus, Joint contracture of the 5th finger, 4-5 finger syndactyly, Short... OMIM:164200
Oculodentodigital Dysplasia, Autosomal Recessive
2-4 toe cutaneous syndactyly, Microphthalmia, 4-5 finger syndactyly, Broad long bones, Fifth fing... OMIM:257850
Eem Syndrome
Finger syndactyly, Ectrodactyly ORPHA:1897
Nance-Horan Syndrome
Broad finger, Short phalanx of finger, Microphthalmia OMIM:302350
Obesity Due To Sim1 Deficiency
Obesity ORPHA:369873
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Corneal neovascularization, Microphthalmia, Meningocele, Hydrocephal... ORPHA:567
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
Retinitis Pigmentosa 89
Postaxial polydactyly OMIM:618955
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the corpus callosum, Microphthalmia, Hydrocephalus, Dandy-Walker malformation, Cort... OMIM:613001
ERI1-related disease
Limited elbow extension, Clinodactyly of the 5th finger, Dislocated radial head, Oligodactyly, Tr... OMIM:608739
Yunis-Varon Syndrome
Rocker bottom foot, Microphthalmia, Abnormal finger morphology, Hypertension, Cardiomyopathy, Apl... ORPHA:3472
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Anophthalmia, Hydrocephalus, Tricuspid regurgitation, Hypertrophic cardiomyopathy... ORPHA:2556
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Finger syndactyly, ... ORPHA:3429
Neurofibromatosis, Type I
Aqueductal stenosis, Macrocephaly, Genu valgum, Hydrocephalus, Hypertension, Spina bifida, Tibial... OMIM:162200
Charge Syndrome
Polydactyly, Aqueductal stenosis, Microphthalmia, Abnormal tibia morphology, Clinodactyly of the ... ORPHA:138
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia, Rhizomelia, Epiphyseal stippling, Dandy-Walker malformation, Stippled calcificati... OMIM:302960
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Microphthalmia, Agenesis of cerebellar vermis, Agenesis of corpus callosum ORPHA:228390
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Deviation of the thumb, Short hallux, Hydrocephalus, Finger syndactyly, Broa... ORPHA:93259
Osteopetrosis, Autosomal Recessive 8
Macrocephaly, Unilateral microphthalmos OMIM:615085
Retinitis Pigmentosa 51
Polydactyly OMIM:613464
Koolen-De Vries Syndrome Due To A Point Mutation
Hypoplasia of the corpus callosum, Macrocephaly, Dural ectasia, Hydrocephalus, Prominent fingerti... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Macrocephaly, Dural ectasia, Hydrocephalus, Prominent fingerti... ORPHA:363958
Tarp Syndrome
Rocker bottom foot, Hypoplasia of the radius, Deep palmar crease, Cerebellar vermis hypoplasia, S... OMIM:311900
Fanconi Anemia, Complementation Group F
Hypoplasia of the radius, Microphthalmia, Microcephaly, Absent thumb, Short thumb, 2-3 finger syn... OMIM:603467
2Q37 Microdeletion Syndrome
Bilateral single transverse palmar creases, Macrocephaly, Clinodactyly of the 5th finger, Finger ... ORPHA:1001
19P13.12 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Deep palmar crease, Aortic regurgitation, Sandal gap, Clinodac... ORPHA:254346
Incontinentia Pigmenti
Congestive heart failure, Microphthalmia, Spina bifida occulta, Finger syndactyly, Abnormal hand ... ORPHA:464
Otopalatodigital Syndrome Type 2
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Abnormal metacarpal morphology, Encepha... ORPHA:90652
Pfeiffer Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Synostosis of carpal bones, Broad thumb, Symph... ORPHA:710
Galloway-Mowat Syndrome 1
Cerebral atrophy, Hypoplasia of the corpus callosum, Secondary microcephaly, Microphthalmia, Dand... OMIM:251300
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Hypoplasia of the olfactory bulb, Anophthalmia ORPHA:2250
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Clinodactyly of the 5th finger, Single transverse palmar crease, 2-3 toe syndactyly, Coxa vara, M... OMIM:614701
Short Stature With Microcephaly And Distinctive Facies
Hypoplasia of the corpus callosum, Proximal placement of thumb, Microcephaly, Syndactyly, Brachyd... OMIM:615789
Bartsocas-Papas Syndrome
Finger syndactyly, Microcephaly, Aplasia/Hypoplasia of the distal phalanges of the toes, Absent t... ORPHA:1234
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Short l... ORPHA:2256
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Synostosis of carpal bones, Biparietal narrowi... ORPHA:1005
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Silver-Russell Syndrome 3
Relative macrocephaly, Clinodactyly of the 5th finger, Syndactyly, Small hand OMIM:616489
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macrocephaly, Polymicrogyria, Unilateral microphthalmos, Microcephaly, Adducted thumb OMIM:618874
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Orofaciodigital Syndrome Type 6
Preaxial polydactyly, Mesoaxial polydactyly, Cerebellar vermis hypoplasia, Biparietal narrowing, ... ORPHA:2754
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia, Encephalocele, Hydrocephalus, Postaxial hand polydactyly, Microcephaly, Holoprose... ORPHA:2166
Conotruncal Heart Malformations
Postaxial polydactyly, Broad hallux OMIM:217095
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Finger syndacty... ORPHA:3258
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Bilateral single transverse palmar creases, Microphthalmia, Microcephaly, Broad thumb, Camptodact... ORPHA:1236
Mend Syndrome
Polydactyly, Hydrocephalus, Dandy-Walker malformation, 2-3 toe syndactyly, Aortic valve stenosis,... OMIM:300960
Oculocerebrocutaneous Syndrome
Hydrocephalus, Dandy-Walker malformation, Polymicrogyria, Finger syndactyly, Congenital hip dislo... ORPHA:1647
Oculocutaneous Albinism Type 2
Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi... ORPHA:79432
Microphthalmia, Syndromic 9
Pulmonic stenosis, Bilateral microphthalmos, Anophthalmia OMIM:601186
Klippel-Trenaunay-Weber Syndrome
Macrodactyly, Hand polydactyly, Syndactyly, Finger aplasia OMIM:149000
Holt-Oram Syndrome
Aplasia of the pectoralis major muscle, Proximal placement of thumb, Small thenar eminence, Pulmo... OMIM:142900
Oliver Syndrome
Clinodactyly of the 5th finger, Prominent fingertip pads, Postaxial hand polydactyly, Elbow flexi... ORPHA:2920
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight ORPHA:276608
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal reproductive system morphology, Hypopigmentation of hair ORPHA:70472
Piebald Trait
Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven... OMIM:172800
Oculocutaneous Albinism Type 1
Iris transillumination defect, Generalized hypopigmentation, Iris hypopigmentation, White eyelash... ORPHA:352731
Pseudohypoparathyroidism, Type Ib
Obesity OMIM:603233
Polysyndactyly With Cardiac Malformation
Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly OMIM:263630
Frontofacionasal Dysplasia
Hypoplasia of the corpus callosum, Microphthalmia, Encephalocele, Hypoplasia of olfactory tract ORPHA:1791
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia, Bowing of the long bones, Pulmonary arterial hypertension, ... OMIM:614437
8Q21.11 Microdeletion Syndrome
Microphthalmia, Abnormal metacarpal morphology, Finger syndactyly, Camptodactyly of finger, Absen... ORPHA:284160
Joubert Syndrome 39
Cerebellar vermis hypoplasia, Occipital encephalocele, Postaxial polydactyly, Joint contracture o... OMIM:619562
Goldberg-Shprintzen Megacolon Syndrome
Microcephaly, Finger syndactyly, Pachygyria, Hypoplasia of the corpus callosum ORPHA:66629
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Rhizomelic leg shortening, Early ossification of capital femoral epiphys... ORPHA:397715
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Abnormal circulating protein concentration ORPHA:86839
Mucopolysaccharidosis-Plus Syndrome
Hirsutism, Low posterior hairline, Synophrys, Long eyelashes, Low anterior hairline, Hypoalbumine... OMIM:617303
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microcephaly, Microphthalmia, Simplified gyral pattern OMIM:152950
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation, Aortic valve stenosis, Pulmonic stenosis, Syndactyly OMIM:220210
Autosomal Recessive Spondylocostal Dysostosis
Macrocephaly, Spina bifida occulta, Meningocele, Finger syndactyly, Microcephaly, Camptodactyly o... ORPHA:2311
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr... ORPHA:247585
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Tibial b... ORPHA:96334
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hypoplasia of the corpus callosum, Preaxial polydactyly, Anencephaly, Cerebellar vermis hypoplasi... OMIM:616546
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia ORPHA:398063
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:308240
Warburg Micro Syndrome 4
Hypoplasia of the corpus callosum, Secondary microcephaly, Microphthalmia, Cerebral cortical atro... OMIM:615663
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Split hand, Brachydactyly, Micromelia ORPHA:2145
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hypoplasia of the corpus callosum, Occipital encephalocele, Microphthalmia, Buphthalmos, Hydrocep... OMIM:236670
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight OMIM:615954
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Histiocytoid cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Agenesis o... OMIM:300952
Congenital Disorder Of Glycosylation, Type Iil
Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal cortical gyration, Hydrocephalus, M... OMIM:614576
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight ORPHA:589905
Waardenburg Syndrome, Type 1
Hypoplastic iris stroma, Myelomeningocele, Spina bifida OMIM:193500
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Sacral Defect With Anterior Meningocele
Myeloschisis, Hydromyelia, Meningocele, Hydrocephalus, Tethered cord, Dermal sinus tract, Myelome... OMIM:600145
Fanconi Anemia, Complementation Group N
Hypoplasia of the radius, Microphthalmia, Microcephaly, Absent thumb, Short thumb OMIM:610832
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia OMIM:608776
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Filippi Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Clinodactyly of the 5th ... ORPHA:3255
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411515
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Proximal placement of thumb, Cardiomyopathy, Microcephaly, Short palm, Syndactyly, Agenesis of co... OMIM:217980
Orofaciodigital Syndrome I
Cerebral atrophy, Polydactyly, Abnormal cortical gyration, Radial deviation of finger, Hydrocepha... OMIM:311200
Fanconi Anemia, Complementation Group E
Microphthalmia, Absent radius, Microcephaly, Absent thumb, Short thumb, Complete duplication of t... OMIM:600901
Chromosome 8Q21.11 Deletion Syndrome
Hypoplasia of the corpus callosum, Microphthalmia, Short metacarpal, Camptodactyly, Syndactyly, A... OMIM:614230
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Atelis Syndrome 2
Microphthalmia, Single transverse palmar crease, Supravalvar pulmonary stenosis, Microcephaly, Pu... OMIM:620185
Rere-Related Neurodevelopmental Syndrome
Cerebellar vermis hypoplasia, Hip dysplasia, Microphthalmia, Hypoplasia of the corpus callosum ORPHA:494344
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Kbg Syndrome
Microcephaly, Single transverse palmar crease, Cutaneous syndactyly, Finger clinodactyly ORPHA:2332
Lethal Acantholytic Erosive Disorder
Clinodactyly of the 5th finger, 4-5 finger syndactyly, Cardiomyopathy, Hypovolemic shock, Camptod... ORPHA:158687
Epidermolysis Bullosa, Junctional 1B, Severe
Syndactyly OMIM:226700
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic nerve hypoplasia, Abnormal periventricular white matter morphology, Microcephaly, Olivopont... ORPHA:468631
Congenital Myopathy 9A
Obesity OMIM:618822
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia, Cryptorchidism OMIM:618183
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased body weight, Small for gestational age OMIM:274300
Fanconi Anemia, Complementation Group D2
Hypoplasia of the corpus callosum, Microphthalmia, Hydrocephalus, Microcephaly, Aplasia of the 1s... OMIM:227646
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Abnormal hip bone morphology, Finger syndactyly, Synostosis of carpal bones, Biparietal narrowing... ORPHA:1323
Vitreoretinochoroidopathy
Vitreous hemorrhage, Microphthalmia, Retinal neovascularization OMIM:193220
Miller-Dieker Lissencephaly Syndrome
Hypoplasia of the corpus callosum, Polydactyly, Deep palmar crease, Clinodactyly of the 5th finge... OMIM:247200
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Hydrocephalus, Aplasia/Hypoplasia involving the pelvis, Septo-optic dysplasia, Ag... ORPHA:3301
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret... ORPHA:79434
Eosinophilic Gastroenteritis
Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:2070
Fetal Alcohol Syndrome
Microcephaly, Microphthalmia, Biparietal narrowing ORPHA:1915
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Genu valgum, Limb undergrowth OMIM:619142
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Leishmaniasis
Hypoalbuminemia ORPHA:507
Rubinstein-Taybi Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Microcephaly, Abnormal distal phalanx morpholo... ORPHA:783
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Acrocardiofacial Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Split hand, Cerebral cortical atrophy, Split f... ORPHA:2008
Congenital Disorder Of Glycosylation, Type Iq
Cerebellar vermis hypoplasia, Polymicrogyria, Microphthalmia OMIM:612379
Charge Syndrome
Hypoplasia of the ulna, Microphthalmia, Anophthalmia, Unilateral microphthalmos, Absent tibia, Ha... OMIM:214800
Histiocytoid Cardiomyopathy
Congestive heart failure, Microphthalmia, Atrial flutter, Wolff-Parkinson-White syndrome, Hydroce... ORPHA:137675
Apert Syndrome
Limited elbow movement, Megalencephaly, Delayed epiphyseal ossification, Hydrocephalus, Finger sy... OMIM:101200
Tukel Syndrome
Postaxial oligodactyly, Carpal synostosis, Syndactyly, Carpal bone aplasia OMIM:609428
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Radial deviation of finger, Microphthalmia, Anencephaly,... OMIM:249000
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Steinfeld Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Microphthalmia, Aplasia/Hypoplasia of the thumb... OMIM:184705
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Syndactyly, Camptodactyly OMIM:616006
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Timothy Syndrome
Prolonged QT interval, Bradycardia, Pulmonary arterial hypertension, Atrioventricular block, Vent... OMIM:601005
Congenital Primary Aphakia
Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita... ORPHA:83461
Fanconi Anemia, Complementation Group A
Microphthalmia, Absent radius, Microcephaly, Absent thumb, Short thumb, Complete duplication of t... OMIM:227650
Macrophage Activation Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration, Elevated cir... ORPHA:158061
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Abnormality of the nail, Hypocalcemia, Hyp... ORPHA:247353
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Epiphyseal stippling, Apl... OMIM:308050
Bohring-Opitz Syndrome
Hypoplasia of the corpus callosum, Deep palmar crease, Dislocated radial head, Dandy-Walker malfo... OMIM:605039
Mycophenolate Mofetil Embryopathy
Microphthalmia, Hydrocephalus, Foot polydactyly, Short palm, Agenesis of corpus callosum ORPHA:268249
Micro Syndrome
Microphthalmia, Cerebellar vermis hypoplasia, Microcephaly, Cerebral cortical atrophy, Pachygyria... ORPHA:2510
Teebi Hypertelorism Syndrome 2
Clinodactyly of the 5th finger, Syndactyly OMIM:619736
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Hypoplasia of the corpus callosum, Rocker bottom foot, Abnormal cortical gyration, Progressive mi... OMIM:617527
Myhre Syndrome
Short finger, Microphthalmia, Radial deviation of finger, Macrocephaly, Hypoplastic iliac wing, 2... OMIM:139210
Trichothiodystrophy 4, Nonphotosensitive
Microcephaly, Microphthalmia, Cerebral cortical atrophy, Partial agenesis of the corpus callosum OMIM:234050
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Macrocephaly, Abnormality of the medullary cavity of the long bones, Basal gangli... OMIM:127000
Adams-Oliver Syndrome 5
Pulmonary arterial hypertension, Pulmonic stenosis, Syndactyly, Brachydactyly, Umbilical hernia OMIM:616028
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia, Pectoral muscle hypoplasia/aplasia, Camptodactyly of finger, Brachydactyly, Agene... ORPHA:306542
Sim1-Related Prader-Willi-Like Syndrome
External genital hypoplasia, Premature pubarche, Hypopigmentation of hair, Hypoplastic labia mino... ORPHA:398079
Monosomy 9Q22.3
Polydactyly, Microphthalmia, Macrocephaly, Palmar pits, Hydrocephalus, Calcification of falx cere... ORPHA:77301
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Nail dysplasia, Irregular hyperpigmentation, Decreased circulating carnitine concentration, Absen... ORPHA:89842
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hypoalbuminemia, ... OMIM:603553
Xeroderma Pigmentosum, Complementation Group D
Microcephaly, Corneal neovascularization, Microphthalmia, Telangiectasia OMIM:278730
Aarskog-Scott Syndrome
Radial deviation of finger, Hyperextensibility of the finger joints, Single transverse palmar cre... OMIM:305400
Premature Aging Syndrome, Penttinen Type
Microphthalmia, Macrocephaly, Slender long bone, Tibial bowing, Osteolytic defects of the distal ... OMIM:601812
Silver-Russell Syndrome 1
Short distal phalanx of the 5th finger, Short middle phalanx of the 5th finger, Clinodactyly of t... OMIM:180860
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia, Junctional ectopic tachycardia, Hydrocephalus, Histiocytoid cardiomyopathy, Singl... OMIM:309801
Blepharocheilodontic Syndrome 2
Cutaneous syndactyly OMIM:617681
Body Mass Index Quantitative Trait Locus 19
Obesity OMIM:617885
Alg12-Cdg
Hypospadias, Small nail, Low posterior hairline, Hyponatremia, Hypoalbuminemia, Hypocholesterolem... ORPHA:79324
Bardet-Biedl Syndrome 1
Radial deviation of finger, Macrocephaly, Hypertension, Postaxial hand polydactyly, Foot polydact... OMIM:209900
Acrofacial Dysostosis, Palagonia Type
Finger syndactyly, Short 4th metacarpal, Spina bifida occulta, Small hand ORPHA:1787
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Thin corpus callosum, Tethered cord, Tapered finger, Spina bifida, Partial agenesis of the corpus... OMIM:619480
Cranioectodermal Dysplasia 3
Macrocephaly, Rhizomelia, Sandal gap, 2-3 toe syndactyly, Postaxial polydactyly, 2-4 toe syndacty... OMIM:614099
Immunodeficiency 32B
Hypoalbuminemia OMIM:226990
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microcephaly, Microphthalmia, Anophthalmia ORPHA:2526
Crane-Heise Syndrome
Finger syndactyly, Short distal phalanx of finger, Toe syndactyly, Aplasia/Hypoplasia of the corp... ORPHA:1512
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Cantú Syndrome
Abnormal metaphysis morphology, Macrocephaly, Short hallux, Finger syndactyly, Hypertrophic cardi... ORPHA:1517
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Lenz-Majewski Hyperostotic Dwarfism
Dysplastic corpus callosum, Diaphyseal undertubulation, Spina bifida occulta, Flared metaphysis, ... OMIM:151050
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Nail dystrophy, Hyperpigmentation of the skin, Alopecia, Hypopigmentation of the skin, Generalize... ORPHA:79396
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Macrocephaly, Long fingers, Overlapping toe, Long toe, Cutaneous syndactyly, Overlapping fingers OMIM:618316
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Overlapping toe, Microphthalmia, Inferior cerebellar vermis hypoplasia OMIM:618571
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Hirsutism, Enlarged polycystic ova... ORPHA:2298
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia, Sparse hair OMIM:615508
Kury-Isidor Syndrome
Rocker bottom foot, Proximal placement of thumb, Finger syndactyly, Brachydactyly, Hip dysplasia,... OMIM:619762
19Q13.11 Microdeletion Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Congenital hip dislocation, Microcephaly, Toe ... ORPHA:217346
Fg Syndrome Type 1
Abnormal thumb morphology, Macrocephaly, Clinodactyly of the 2nd finger, Hydrocephalus, Optic ner... ORPHA:93932
Adnp Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Polydactyly, Focal white matter lesions, San... ORPHA:404448
Avian Influenza
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... ORPHA:454836
Classic Phenylketonuria
Hyperphenylalaninemia, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:79254
Jacobsen Syndrome
Microphthalmia, Macrocephaly, Clinodactyly of the 5th finger, Hydrocephalus, Microcephaly, Holopr... OMIM:147791
Ring Chromosome 12 Syndrome
Abnormal 5th finger morphology, Microcephaly, Symphalangism of the thumb, Syndactyly, Clinodactyly ORPHA:1439
Pfeiffer Syndrome Type 3
Aqueductal stenosis, Short hallux, Finger syndactyly, Broad thumb, Hallux varus, Broad hallux pha... ORPHA:93260
Proboscis Lateralis
Microphthalmia, Macrocephaly, Anophthalmia, Optic nerve hypoplasia, Abnormal corpus callosum morp... ORPHA:141099
3C Syndrome
Macrocephaly, Abnormal hip bone morphology, Hydrocephalus, Dandy-Walker malformation, Finger synd... ORPHA:7
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia OMIM:617021
Branchiooculofacial Syndrome
Microphthalmia, Clinodactyly of the 5th finger, Proximal placement of thumb, Anophthalmia, Branch... OMIM:113620
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Encephalocele, Finger syndactyly, Polymicrogyria, Broad thumb, Broad ... ORPHA:2211
Chromosome 13Q14 Deletion Syndrome
Hypoplasia of the corpus callosum, Microphthalmia, Clinodactyly of the 5th finger, Single transve... OMIM:613884
Oculodentodigital Dysplasia
Abnormal metaphysis morphology, Palmoplantar keratoderma, Clinodactyly of the 5th finger, Abnorma... ORPHA:2710
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia, Retinal neovascularization OMIM:305390
Cri-Du-Chat Syndrome
Short metatarsal, Single transverse palmar crease, High axial triradius, Short metacarpal, Microc... OMIM:123450
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Hypertension, Femoral bowing, Bifid first metacarpal, Short metacarpal, Micr... OMIM:210710
Bardet-Biedl Syndrome 12
Polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:615989
Anterior Segment Dysgenesis 2
Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia OMIM:610256
Narcolepsy 7
Obesity OMIM:614250
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Caudal appendage, Cerebellar vermi... ORPHA:314679
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Polymicrogyria, Microphthalmia, Pachygyria ORPHA:2328
Frontonasal Dysplasia 2
Hypoplasia of the corpus callosum, Microphthalmia, Encephalocele, Cerebellar vermis hypoplasia, M... OMIM:613451
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoalbuminemia, Hypoproteinemia, Hypomagnesemia ORPHA:90362
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large for gestational age, Overgrowth, Small for gestational age ORPHA:254534
8Q22.1 Microdeletion Syndrome
Microcephaly, Camptodactyly of finger, Finger syndactyly, Sandal gap ORPHA:178303
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Hirsutism, Cryptorchidism OMIM:235510
Robinow Syndrome, Autosomal Recessive 1
Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head, Broad thumb, Mesome... OMIM:268310
Ermine Phenotype
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Iris hypopigme... ORPHA:999
Anemia, Congenital Dyserythropoietic, Type Ib
Syndactyly OMIM:615631
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Acromelic Frontonasal Dysostosis
Hypoplasia of the corpus callosum, Patellar hypoplasia, Encephalocele, Cavum septum pellucidum, T... OMIM:603671
Linear Nevus Sebaceus Syndrome
Microphthalmia, Cerebral calcification, Dandy-Walker malformation, Porencephalic cyst, Biparietal... ORPHA:2612
Phoar2-Enteropathy Syndrome
Hypoalbuminemia OMIM:614441
Hydrolethalus Syndrome 1
Microphthalmia, Abnormal cortical gyration, Anencephaly, Talipes equinovarus, Upper limb undergro... OMIM:236680
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Aplasia of the distal phalanx of the 5th toe, Microcephaly, Aplasia of the distal... ORPHA:364577
Opitz-Kaveggia Syndrome
Postnatal macrocephaly, Radial deviation of finger, Hydrocephalus, Single transverse palmar creas... OMIM:305450
Dyrk1A-Related Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Polydactyly, Clinodactyly of the 5th finger, Aortic regurgitat... ORPHA:464306
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Hydrocephalus, Optic nerve hyp... ORPHA:457284
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Poland Syndrome
Finger symphalangism, Abnormality of the hand, Aplasia of the pectoralis major muscle, Spina bifi... ORPHA:2911
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin... ORPHA:79431
Orofaciodigital Syndrome V
Sandal gap, Postaxial hand polydactyly, Microcephaly, Postaxial polydactyly, Agenesis of corpus c... OMIM:174300
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Wolcott-Rallison Syndrome
Hyperammonemia, Hyponatremia, Hypoalbuminemia, Hyperbilirubinemia ORPHA:1667
Khan-Khan-Katsanis Syndrome
Cerebellar vermis hypoplasia, Tethered cord, Tricuspid regurgitation, Microcephaly, Postaxial pol... OMIM:618460
Fanconi Anemia, Complementation Group C
Microphthalmia, Absent radius, Microcephaly, Absent thumb, Short thumb, Complete duplication of t... OMIM:227645
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration ORPHA:540
Holoprosencephaly 7
Semilobar holoprosencephaly, Microphthalmia, Macrocephaly, Bilateral microphthalmos, Alobar holop... OMIM:610828
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia, Epiphyseal stippling, Neonatal epiphyseal stippling, Upper limb asymmetry, Talipe... ORPHA:35173
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Pierson Syndrome
Microphthalmia, Hypoplasia of the ciliary body, Progressive microcephaly, Hypertension, Retinal h... OMIM:609049
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Sandal gap, Single transverse palmar crease, Micromelia, Broad hallux, Syndactyly, Brachydactyly OMIM:614800
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia, Hydrocele testis ORPHA:567546
Ohdo Syndrome, X-Linked
Microphthalmia, Ulnar deviation of the hand, Short thumb, Hip dysplasia, Overlapping toe, Clinoda... OMIM:300895
Blepharo-Cheilo-Odontic Syndrome
Finger syndactyly ORPHA:1997
Microphthalmia, Syndromic 1
Microphthalmia, Radial deviation of finger, Anophthalmia, Short clavicles, Prominent fingertip pa... OMIM:309800
Combined Oxidative Phosphorylation Deficiency 25
Hypoplasia of the pons, Intraventricular hemorrhage, Cerebral atrophy, Syndactyly OMIM:616430
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Camptodactyly of finger ORPHA:246
Xeroderma Pigmentosum, Complementation Group B
Microcephaly, Microphthalmia, Basal ganglia calcification OMIM:610651
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
2-3 toe cutaneous syndactyly, Prolonged QT interval, Optic nerve hypoplasia, Pulmonary arterial h... OMIM:620029
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent skin pigment... OMIM:203100
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Nail dystrophy, Hypocalcemia, Decreased circulating prealbumin concentration, Hypomagnesemia, Abn... ORPHA:37042
Rodrigues Blindness
Microphthalmia OMIM:268320
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hyperammonemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Decreased serum zinc OMIM:617093
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Microphthalmia OMIM:301108
Pseudoaminopterin Syndrome
Clinodactyly of the 5th toe, Limited elbow movement, Macrocephaly, Short 4th metacarpal, Hip subl... ORPHA:221120
Grange Syndrome
Renovascular hypertension, Finger clinodactyly, Syndactyly, Brachydactyly OMIM:602531
Hallermann-Streiff Syndrome
Congestive heart failure, Microphthalmia, Clinodactyly of the 5th finger, Microcephaly, Cerebella... ORPHA:2108
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia, Clinodactyly of the 5th finger, Aortic regurgitation, Dandy-Walker malformation, ... ORPHA:1052
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Acetabular dysplasia, Short metacarpal, Broad thumb, Short distal phalanx of finger OMIM:201180
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Micropenis OMIM:619487
Skin Creases, Congenital Symmetric Circumferential, 2
Hypoplasia of the corpus callosum, Microphthalmia, Clinodactyly of the 5th finger, 2-3 toe syndac... OMIM:616734
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Hypopigmentation of the skin, Melanocytic nevus, Albinism, Freckling, F... OMIM:203300
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Momo Syndrome
Bilateral microphthalmos, Macrocephaly, Femoral bowing, Short sternum, Large hands, Congenital ps... ORPHA:2563
Congenital Enterovirus Infection
Hyperammonemia, Hypoalbuminemia ORPHA:292
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Aplasia/Hypoplasia of the phalanges of the toe... ORPHA:1112
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hypoplasia of the corpus callosum, Abnormal cortical gyration, Small hand, Dandy-Walker malformat... OMIM:300968
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Polymicrogyria, Syndactyly, Umbilical hernia OMIM:614520
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hypocholesterolemia, Hypergonadotropic hypogonadism OMIM:212065
Proprotein Convertase 1/3 Deficiency
Obesity OMIM:600955
X Small Rings
Clinodactyly of the 5th finger, Upper limb undergrowth, 2-3 toe syndactyly, Mitral stenosis, Lowe... ORPHA:96201
Kinsship Syndrome
Polydactyly, Fibular hypoplasia, Dislocated radial head, Dandy-Walker malformation, Single transv... OMIM:619297
Larsen Syndrome
Broad distal phalanx of finger, Finger syndactyly, Abnormal epiphysis morphology, Broad thumb, Br... ORPHA:503
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Hydrocephalus, Finger syndactyly, Hypertension, Micromelia, Broa... ORPHA:87
Hamamy Syndrome
Clinodactyly of the 5th finger, Short 2nd finger, Long fingers, Down-sloping shoulders, Syndactyl... OMIM:611174
Abcd Syndrome
Large for gestational age OMIM:600501
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
External genital hypoplasia, Premature pubarche, Hypopigmentation of hair, Hypoplastic labia mino... ORPHA:98754
Fryns Syndrome
Microphthalmia, Clinodactyly of the 5th finger, Dandy-Walker malformation, Cerebral cortical atro... ORPHA:2059
Magel2-Related Prader-Willi-Like Syndrome
External genital hypoplasia, Premature pubarche, Hypopigmentation of hair, Hypoplastic labia mino... ORPHA:398069
Carney Complex, Type 1
Multiple lentigines, Red hair, Hirsutism, Profuse pigmented skin lesions, Freckling OMIM:160980
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Multiple caf... ORPHA:3214
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Microphthalmia, Hypoplast... OMIM:617925
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypoplasia of the corpus callosum, Microphthalmia, Macrocephaly, Clinodactyly of the 5th finger, ... OMIM:616975
Neurocardiofaciodigital Syndrome
Hypoplasia of the corpus callosum, Polydactyly, Cavum septum pellucidum, Cerebellar vermis hypopl... OMIM:619869
Constricting Bands, Congenital
Talipes equinovarus, Hand polydactyly, Syndactyly, Encephalocele OMIM:217100
Bartsocas-Papas Syndrome 1
Microphthalmia, Ulnar bowing, Hypoplastic iliac wing, Oligodactyly, Short metacarpal, Short phala... OMIM:263650
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
External genital hypoplasia, Premature pubarche, Hypopigmentation of hair, Hypoplastic labia mino... ORPHA:98793
Cockayne Syndrome B
Cerebral atrophy, Normal pressure hydrocephalus, Square pelvis bone, Microphthalmia, Hypoplastic ... OMIM:133540
Fanconi Anemia, Complementation Group L
Microphthalmia, Hydrocephalus, Bilateral talipes equinovarus, Absent thumb, Absent radius, Cerebe... OMIM:614083
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Cafe-au-lait spot, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:618541
Muenke Syndrome
Hypopigmented skin patches, Hypermelanotic macule, Hypopigmentation of hair ORPHA:53271
Tarp Syndrome
Rocker bottom foot, Finger syndactyly, Single transverse palmar crease, Abnormal corpus callosum ... ORPHA:2886
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
External genital hypoplasia, Premature pubarche, Hypopigmentation of hair, Hypoplastic labia mino... ORPHA:177904
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
External genital hypoplasia, Premature pubarche, Hypopigmentation of hair, Hypoplastic labia mino... ORPHA:177901
Persistent Hyperplastic Primary Vitreous
Microphthalmia, Buphthalmos, Phthisis bulbi, Macular hypoplasia, Hemorrhage of the eye ORPHA:91495
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Postaxial polydactyly OMIM:219730
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration OMIM:251880
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hypotriglyceridemia, Hyperbilirubinemia, Abnormal circul... ORPHA:14
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Cerebral atrophy, Macrocephaly, Radial deviation of finger, Sandal gap, Tethered cord, Supravalva... OMIM:618164
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Hyphema, Phthisis bulbi, Microphthalmia, Buphthalmos OMIM:221900
Legius Syndrome
Polydactyly, Macrocephaly, Clinodactyly of the 5th finger, Pulmonic stenosis, Paroxysmal atrial t... ORPHA:137605
Prader-Willi Syndrome
External genital hypoplasia, Premature pubarche, Hypopigmentation of hair, Hypoplastic labia mino... ORPHA:739
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Red hair OMIM:609734
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Hypoalbuminemia, Elevated circulating creatinine concentration, Elevated circulatin... ORPHA:36234
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Thick hair, Long eyelashes, Abnormality of retinal pigmentation, Hypoalbuminemia, Hypertrichosis ORPHA:505248
Aicardi Syndrome
Microphthalmia, Polymicrogyria, Microcephaly, Pachygyria, Partial agenesis of the corpus callosum... ORPHA:50
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Short finger, Microphthalmia, Aplasia of the distal phalanx of the 5th toe, Clinodactyly of the 5... OMIM:608670
Choroidal Atrophy-Alopecia Syndrome
Finger syndactyly ORPHA:1433
Dubowitz Syndrome
Microphthalmia, Clinodactyly of the 5th finger, Single transverse palmar crease, Hypoplasia of th... OMIM:223370
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Split hand, Rudimentary to a... ORPHA:958
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia, Pulmonary arterial hypertension, Portal hypertension, Microcephaly, Hip dysplasia... OMIM:620005
Smith-Magenis Syndrome
Increased body weight OMIM:182290
Pallister-Hall Syndrome
Microphthalmia, Mesoaxial polydactyly, Oligodactyly, Broad thumb, Umbilical hernia, Polydactyly a... ORPHA:672
Kbg Syndrome
Radial deviation of finger, Clinodactyly of the 5th finger, Single transverse palmar crease, Ulna... OMIM:148050
Trichothiodystrophy 1, Photosensitive
Microcephaly, Microphthalmia, Telangiectasia OMIM:601675
Blepharonasofacial Malformation Syndrome
Finger syndactyly ORPHA:1252
Acrocallosal Syndrome
Macrocephaly, Clinodactyly of the 5th finger, Finger syndactyly, Postaxial hand polydactyly, Tape... OMIM:200990
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Postaxial polydactyly OMIM:615824
Microphthalmia/Coloboma 12
Microphthalmia, Optic nerve aplasia OMIM:120200
Orofaciodigital Syndrome Type 2
Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger syndactyly, Adact... ORPHA:2751
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Hyperalaninemia OMIM:618329
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Finger syndactyly, Adactyly, Split hand, Upper limb phocomelia, Br... ORPHA:989
Robinow Syndrome, Autosomal Dominant 3
Macrocephaly, Tricuspid regurgitation, Camptodactyly, Broad thumb, Short phalanx of finger, Mesom... OMIM:616894
Rothmund-Thomson Syndrome, Type 2
Microphthalmia, Congenital hip dislocation, Short palm, Short thumb, Forearm reduction defects, T... OMIM:268400
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Obesity OMIM:194072
Moebius Syndrome
Aplasia of the pectoralis major muscle, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the... ORPHA:570
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethio... OMIM:617156
Trichothiodystrophy 3, Photosensitive
Microphthalmia OMIM:616395
Bardet-Biedl Syndrome 20
Postaxial polydactyly, 2-3 toe syndactyly, Postaxial hand polydactyly, Preaxial foot polydactyly OMIM:619471
Microphthalmia/Coloboma 9
Microphthalmia OMIM:615145
Multiple Pterygium-Malignant Hyperthermia Syndrome
Talipes equinovarus, Finger syndactyly, Hemiatrophy, Metatarsus adductus, Arachnodactyly, Camptod... ORPHA:2215
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Cubitus valgus, Hydrocephalus, Congenital hip dislocation, Syndactyly, Umbilical hernia OMIM:104350
Wilson Disease
Failure to thrive, Increased body weight, Weight loss ORPHA:905
Pili Torti-Onychodysplasia Syndrome
Palmoplantar keratoderma, Cutaneous syndactyly ORPHA:2890
Monosomy 9P
Bilateral single transverse palmar creases, Microphthalmia, Proximal placement of thumb, Postaxia... ORPHA:261112
Senior-Loken Syndrome 8
Polydactyly OMIM:616307
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Secondary microcephaly, Thin corpus callosum, Cavum septum pellucidum, Cerebellar vermis hypoplas... OMIM:620654
Choanal Atresia
Polydactyly ORPHA:137914
Diaphragmatic Hernia 4, With Cardiovascular Defects
Macrocephaly, Clinodactyly of the 5th finger, Finger syndactyly, Optic nerve hypoplasia, 2-3 toe ... OMIM:620025
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Abdominal Obesity-Metabolic Syndrome 4
Obesity OMIM:618620
Hartsfield Syndrome
Semilobar holoprosencephaly, Alobar holoprosencephaly, Ectrodactyly, Microcephaly, Lobar holopros... OMIM:615465
Townes-Brocks Syndrome 1
Metatarsal synostosis, Clinodactyly of the 5th toe, Triphalangeal thumb, Short metatarsal, Hydroc... OMIM:107480
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98795
Vacterl/Vater Association
Occipital encephalocele, Anencephaly, Finger syndactyly, Aplasia/Hypoplasia of the radius, Preaxi... ORPHA:887
Witteveen-Kolk Syndrome
Microphthalmia, Radial deviation of finger, Proximal placement of thumb, Microcephaly, Arachnodac... OMIM:613406
Smith-Lemli-Opitz Syndrome
Rhizomelia, Proximal placement of thumb, Abnormal metacarpal morphology, Finger syndactyly, 2-3 t... ORPHA:818
Orofaciodigital Syndrome Type 1
Tarsal synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Dandy-Walker malformation, ... ORPHA:2750
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Increased body weight ORPHA:263455
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Cerebral atrophy, Polydactyly, Abnormal basal ganglia MRI signal intensity, Hypertrophic cardiomy... ORPHA:17
Fryns Syndrome
Rocker bottom foot, Microphthalmia, Proximal placement of thumb, Dandy-Walker malformation, Singl... OMIM:229850
Al Amyloidosis
Hypoalbuminemia, Increased circulating NT-proBNP concentration ORPHA:85443
Traboulsi Syndrome
Short finger, Microphthalmia, Cubitus valgus, Arachnodactyly, Broad hallux OMIM:601552
Renal Cysts And Diabetes Syndrome
Hypospadias, Hyperuricemia, Bicornuate uterus, Atretic vas deferens, Epididymal cyst, Elevated ci... OMIM:137920
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Nail dystrophy, Sparse scalp hair, Generalized hyperpigmentation, Gene... ORPHA:3322
Koolen-De Vries Syndrome
Abnormality of hair texture, Cryptorchidism, Hypospadias, Hypopigmentation of hair ORPHA:96169
Phace Association
Optic nerve hypoplasia, Microphthalmia, Dandy-Walker malformation, Cerebellar hypoplasia OMIM:606519
8Q24.3 Microdeletion Syndrome
Rocker bottom foot, Gastrointestinal hemorrhage, Optic nerve hypoplasia, Short 5th finger, Long t... ORPHA:508488
Smith-Lemli-Opitz Syndrome
Ambiguous genitalia, Hypospadias, Penoscrotal hypospadias, Bifid scrotum, Bicornuate uterus, Elev... OMIM:270400
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microcephaly, Microphthalmia OMIM:110100
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Hyperpigmentation of the skin, Conjugated hyperbilirubi... ORPHA:186
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight OMIM:615830
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Tibial bowing, Microcephaly, Metaphyseal widening, Phthisis bulbi OMIM:259770
Autosomal Dominant Kenny-Caffey Syndrome
Postnatal macrocephaly, Bilateral microphthalmos, Thin long bone diaphyses, Cortical thickening o... ORPHA:93325
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Nail dystrophy, Sparse scalp hair, Sparse eyelashes, Onycholysis, Sparse eyebrow, Hypoalbuminemia... OMIM:614748
Sclerosteosis 1
Abnormal pelvic girdle bone morphology, Deviation of finger, Cortically dense long tubular bones,... OMIM:269500
Norrie Disease
Buphthalmos, Microphthalmia, Hypoplasia of the iris OMIM:310600
Hypohidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Trichorrhexis nodosa, Breast aplasia, Abnormality of the nail, Abnor... ORPHA:238468
Au-Kline Syndrome
Syringomyelia, Deep palmar crease, Clinodactyly of the 5th finger, Hypertension, Lipomyelomeningo... OMIM:616580
Cat Eye Syndrome
Pulmonic stenosis, Microphthalmia, Absent radius, Umbilical hernia OMIM:115470
Combined Pituitary Hormone Deficiencies, Genetic Forms
Polydactyly, Optic nerve hypoplasia, Hypotension, Septo-optic dysplasia, Abnormal digit morpholog... ORPHA:95494
Autosomal Recessive Robinow Syndrome
Bilateral single transverse palmar creases, Macrocephaly, Clinodactyly of the 5th finger, Abnorma... ORPHA:1507
Oculoauricular Syndrome
Microphakia, Microphthalmia, Spina bifida occulta, Phthisis bulbi, Macular hypoplasia OMIM:612109
Multiple Pterygium Syndrome, Escobar Variant
Rocker bottom foot, Dislocated radial head, Camptodactyly, Camptodactyly of toe, Arachnodactyly, ... OMIM:265000
Bloom Syndrome
Clinodactyly of the 5th finger, Microcephaly, Facial telangiectasia in butterfly midface distribu... OMIM:210900
Craniofacial Microsomia 1
Occipital encephalocele, Microphthalmia, Genu valgum, Anophthalmia, Hydrocephalus, Branchial anom... OMIM:164210
Insulinoma
Increased body weight ORPHA:97279
Okamoto Syndrome
Hypoplasia of the corpus callosum, Polydactyly, Syringomyelia, Abnormally large globe, Tethered c... ORPHA:2729
Holoprosencephaly 1
Microphthalmia, Alobar holoprosencephaly, Microcephaly, Ethmocephaly, Agenesis of corpus callosum... OMIM:236100
Autosomal Recessive Multiple Pterygium Syndrome
Spina bifida occulta, Finger syndactyly, Microcephaly, Camptodactyly of finger, Symphalangism aff... ORPHA:2990
Saethre-Chotzen Syndrome
Clinodactyly of the 5th finger, Buphthalmos, Absent first metatarsal, Abnormal pelvic girdle bone... OMIM:101400
Fraser Syndrome 2
Microphthalmia, Cutaneous syndactyly OMIM:617666
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411511
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia, Clinodactyly of the 5th finger, Aortic regurgitation, Single transverse palmar cr... OMIM:612474
Degcags Syndrome
Polydactyly, Microphthalmia, Genu valgum, Talipes equinovarus, Pulmonary arterial hypertension, M... OMIM:619488
Orofaciodigital Syndrome Xiv
Hypoplasia of the corpus callosum, Occipital encephalocele, Preaxial polydactyly, Cerebellar verm... OMIM:615948
Roberts-Sc Phocomelia Syndrome
Hypoplasia of the ulna, Tetraphocomelia, Radial deviation of finger, Aplasia of the ulna, Abnorma... OMIM:268300
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Lenz-Majewski Hyperostotic Dwarfism
Abnormal metaphysis morphology, Macrocephaly, Abnormal metacarpal morphology, Hydrocephalus, Fing... ORPHA:2658
Faciocardiomelic Syndrome
Microcephaly, Polydactyly, Slender long bone, Hypoplastic pelvis OMIM:612731
Stolerman Neurodevelopmental Syndrome
Broad palm, Clinodactyly of the 5th finger, Syndactyly OMIM:618505
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Microphthalmia, Buphthalmos, Hydrocephalus, Polymicrogyria, Type II lissencephaly, Microcephaly, ... OMIM:253280
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Polydactyly ORPHA:314655
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Hypoplasia of the radius, Congenital hip dislocation, Syndactyly, Short t... OMIM:263750
Retinitis Pigmentosa 74
Polydactyly OMIM:616562
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypoplasia of the corpus callosum, Polydactyly, Short 5th toe, 2-4 toe cutaneous syndactyly, Aort... ORPHA:268261
Saethre-Chotzen Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Triphalangeal thumb, ... ORPHA:794
Cranioectodermal Dysplasia 2
Polydactyly, Macrocephaly, Rhizomelia, Hypertension, Postaxial hand polydactyly, Mesomelia, Synda... OMIM:613610
Carpenter Syndrome 2
Preaxial polydactyly, Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Hitchhiker... OMIM:614976
Helsmoortel-Van Der Aa Syndrome
Polydactyly, Genu valgum, Clinodactyly of the 5th finger, Sandal gap, Prominent fingertip pads, S... OMIM:615873
Simpson-Golabi-Behmel Syndrome
Macrocephaly, Prolonged QT interval, Clinodactyly of the 5th finger, Short 2nd finger, Finger syn... ORPHA:373
Incontinentia Pigmenti
Microcephaly, Microphthalmia, Hypoplasia of the fovea, Retinal hemorrhage OMIM:308300
Juvenile Polyposis Of Infancy
Hypoalbuminemia, Freckled genitalia ORPHA:79076
Trichothiodystrophy
Periventricular leukomalacia, Bilateral microphthalmos, Cerebral dysmyelination, Clubbing, Cardio... ORPHA:33364
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hypokalemia OMIM:174900
Mckusick-Kaufman Syndrome
Tarsal synostosis, Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly,... ORPHA:2473
Phace Syndrome
Microphthalmia, Optic nerve hypoplasia, Dandy-Walker malformation, Microcephaly, Agenesis of corp... ORPHA:42775
Cntnap2-Related Developmental And Epileptic Encephalopathy
Periventricular leukomalacia, Preaxial polydactyly ORPHA:163681
Neuroocular Syndrome
Periventricular leukomalacia, Microphthalmia, Deep palmar crease, Clinodactyly of the 5th finger,... OMIM:619539
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased ci... ORPHA:90363
Fontaine Progeroid Syndrome
Hypoplasia of the corpus callosum, Microphthalmia, Deep palmar crease, Cerebellar vermis hypoplas... OMIM:612289
Yunis-Varon Syndrome
Bilateral single transverse palmar creases, Cardiomyopathy, Flat acetabular roof, Microcephaly, A... OMIM:216340
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Clinodactyly of the 5th finger, Relative macrocephaly, Syndactyly, Brachydactyly, Narrow joint sp... ORPHA:96182
Prader-Willi Syndrome
Acromicria, Radial deviation of finger, Genu valgum, Short foot, Narrow palm, Short palm, Syndact... OMIM:176270
Von Hippel-Lindau Syndrome
Epididymal cyst, Papillary cystadenoma of the epididymis OMIM:193300
Cockayne Syndrome Type 3
Microphthalmia, Increased blood pressure, Progressive microcephaly, Cerebral white matter atrophy... ORPHA:90324
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Secondary microcephaly, Polydactyly, Syringomyelia, Deviation of the hallux, Broad distal phalanx... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Secondary microcephaly, Polydactyly, Syringomyelia, Deviation of the hallux, Broad distal phalanx... ORPHA:353277
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Hypopigmentation of hair, Shawl scrotum, Coarse hair, Widow's peak ORPHA:1974
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:163746
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Hypoalbuminemia, Small scrotum, Unconjugated hyperbilirubinemia OMIM:613658
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cryptorchidism, Hypopigmentation of hair, Ocular albinism ORPHA:2719
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia OMIM:254900
Townes-Brocks Syndrome
Microphthalmia, Clinodactyly of the 5th finger, Triphalangeal thumb, Absent toe, Broad thumb, Toe... ORPHA:857
Sotos Syndrome
Tall stature, Increased body weight, Overgrowth OMIM:117550
Marburg Hemorrhagic Fever
Hypokalemia, Hyperamylasemia, Elevated circulating creatine kinase concentration, Hyperammonemia,... ORPHA:99826
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Ischemic stroke, Corneal neovascularization, Microphthalmia, Hydrocephalus, Cortical dysplasia, P... OMIM:175780
Monosomy 22
Clinodactyly of the 5th finger, Finger syndactyly, Single transverse palmar crease, Clubbing, Mic... ORPHA:96123
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98794
3Mc Syndrome 3
Preaxial polydactyly, Clinodactyly, Radioulnar synostosis OMIM:248340
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Hyperbilirubinemia, High nonceru... OMIM:277900
Chediak-Higashi Syndrome
Hypopigmentation of hair, Silver-gray hair, Hypopigmentation of the skin, Giant melanosomes in me... OMIM:214500
Floating-Harbor Syndrome
Hypospadias, Glandular hypospadias, Generalized hypertrichosis, Hirsutism, Low posterior hairline... OMIM:136140
Papillorenal Syndrome
Microphthalmia, Hypertension OMIM:120330
Renpenning Syndrome 1
Cerebral atrophy, Microphthalmia, Clinodactyly of the 5th finger, Camptodactyly, Microcephaly, Sy... OMIM:309500
Lymphedema-Distichiasis Syndrome
Microphthalmia, Arrhythmia OMIM:153400
Mosaic Trisomy 16
Large placenta, Single transverse palmar crease, Short forearm, Syndactyly, Short femoral neck, S... ORPHA:1708
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Hypopigmentation of hair, Hypoproteinemia, Hypopigmentation of the skin, La... ORPHA:167
Exstrophy-Epispadias Complex
Microcephaly, Hydrocephalus, Spina bifida ORPHA:322
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Branchial anomaly, Microcephaly, Posta... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Branchial anomaly, Microcephaly, Posta... ORPHA:352665
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Bilateral single transverse palmar creases, Toe syndactyly, Finger syndactyly, Palmoplantar hyper... ORPHA:3253
Culler-Jones Syndrome
Postaxial polydactyly OMIM:615849
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow greater sciatic notch, Short greater sciatic notch, Cardiomyopathy, Flared iliac wing, Pul... OMIM:312870
Syndromic Diarrhea
Trichorrhexis nodosa, Abnormality of iron homeostasis, Hypopigmentation of hair, Brittle hair, Ge... ORPHA:84064
Cockayne Syndrome
Cerebral atrophy, Microphthalmia, Cerebral dysmyelination, Progressive microcephaly, Cerebral cal... ORPHA:191
Faciodigitogenital Syndrome, Autosomal Recessive
Clinodactyly of the 5th finger, Short foot, Camptodactyly, Metatarsus adductus, Syndactyly, Broad... OMIM:227330
Vici Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Elevated circulating creatine kinase conc... OMIM:242840
Genitourinary And/Or Brain Malformation Syndrome
Secondary microcephaly, Dysplastic corpus callosum, Macrocephaly, Polymicrogyria, Holoprosencepha... OMIM:618820
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Toe syndactyly, Split hand ORPHA:1300
Prader-Willi Syndrome Due To Translocation
External genital hypoplasia, Hypopigmentation of hair, Hyperpigmentation of the skin, Stellate ir... ORPHA:177907
Orofaciodigital Syndrome Type 4
Finger syndactyly, Subcortical cerebral atrophy, Postaxial hand polydactyly, Split hand, Micromel... ORPHA:2753
Robinow Syndrome
Macrocephaly, Mesomelic arm shortening, Pulmonic stenosis, Mesomelia, Bifid distal phalanx of the... ORPHA:97360
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Microphthalmia, Single transverse palmar crease, Branchial cyst, Pulmonary arterial hypertension,... OMIM:620186
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hypoplasia of the corpus callosum, Abnormal cortical gyration, Cerebellar vermis hypoplasia, Dand... ORPHA:480880
Mckusick-Kaufman Syndrome
Mesoaxial hand polydactyly, Postaxial hand polydactyly, Syndactyly, Congenital hip dislocation OMIM:236700
Autosomal Dominant Robinow Syndrome
Macrocephaly, Clinodactyly of the 5th finger, Finger syndactyly, Micromelia, Coxa vara, Short pal... ORPHA:3107
Lowe Oculocerebrorenal Syndrome
Wrist swelling, Microphthalmia, Genu valgum, Camptodactyly of finger, Finger swelling, Hip disloc... OMIM:309000
Adult Syndrome
Split foot, Toe syndactyly, Finger syndactyly ORPHA:978
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Long eyelashes, Iris hypopigmentation, Me... ORPHA:79430
Alstrom Syndrome
Polydactyly, Congestive heart failure, Dilated cardiomyopathy, Hypertension OMIM:203800
Peters-Plus Syndrome
Limited elbow movement, Square pelvis bone, Proximal placement of thumb, Short metacarpal, Microc... OMIM:261540
Rapp-Hodgkin Syndrome
Palmoplantar keratoderma, 2-3 toe cutaneous syndactyly, Syndactyly OMIM:129400
Rabson-Mendenhall Syndrome
Polydactyly, Cardiomyopathy ORPHA:769
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Microphthalmia, Pulmonic stenosis, Aortic valve stenosis, Arachnodactyly, Syndactyly, Adducted th... ORPHA:261537
Limb-Mammary Syndrome
Clinodactyly of the 5th finger, Oligodactyly, Syndactyly, 3-4 finger cutaneous syndactyly, Toe sy... ORPHA:69085
Fraser Syndrome 3
Hydrocephalus, Cutaneous syndactyly, Short toe OMIM:617667
Mullegama-Klein-Martinez Syndrome
Microcephaly, Polydactyly, Clinodactyly of the 5th finger OMIM:301022
Loeys-Dietz Syndrome 2
Dural ectasia, Hydrocephalus, Absent distal phalanges, Camptodactyly, Postaxial polydactyly, Arac... OMIM:610168
Kawasaki Disease
Abnormality of nail color, Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:2331
Tetraamelia Syndrome 1
Hydrocephalus, Microphthalmia, Hypoplastic pelvis OMIM:273395
Lacrimoauriculodentodigital Syndrome
Hypoplasia of the radius, Corneal neovascularization, Abnormal thumb morphology, Finger syndactyl... ORPHA:2363
Brittle Cornea Syndrome
Abnormality of hair pigmentation ORPHA:90354
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Abdominal obesity, Increased body weight ORPHA:189427
Holoprosencephaly 2
Semilobar holoprosencephaly, Microphthalmia, Alobar holoprosencephaly, Microcephaly, Holoprosence... OMIM:157170
Scalp-Ear-Nipple Syndrome
Congestive heart failure, Clinodactyly of the 5th finger, Finger syndactyly, 2-3 toe syndactyly, ... OMIM:181270
Cutis Marmorata Telangiectatica Congenita
Finger syndactyly, Abnormality of the upper limb, Short lower limbs, Telangiectasia of the skin, ... ORPHA:1556
Cystinosis, Nephropathic
Hypophosphatemic rickets, Hypopigmentation of hair, Reduced blood urea nitrogen, Hypokalemia, Dec... OMIM:219800
Eec Syndrome
Proximal placement of thumb, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Split hand, Ectr... ORPHA:1896
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Microphthalmia, Hyphema, Pulmonic stenosis, Aortic valve stenosis, Arachnodactyly, Syndactyly, Ad... ORPHA:261552
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Increased body weight ORPHA:264580
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Hypoalbuminemia, Anoperineal fistula, Elevated circulating C-reactive protein conc... OMIM:619381
Isolated Arrhinia
Microphthalmia ORPHA:1134
Anemia, Congenital Dyserythropoietic, Type Ia
Syndactyly OMIM:224120
Primary Sclerosing Cholangitis
Hypoalbuminemia ORPHA:171
Lacrimoauriculodentodigital Syndrome 1
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Clinodactyly of the 5th f... OMIM:149730
Treacher-Collins Syndrome
Microphthalmia, Branchial fistula, Encephalocele ORPHA:861
Hereditary Acrokeratotic Poikiloderma
Abnormal hip bone morphology, Abnormal metacarpal morphology, Finger syndactyly, Camptodactyly of... ORPHA:2907
Biliary, Renal, Neurologic, And Skeletal Syndrome
Frontotemporal cerebral atrophy, Aqueductal stenosis, Polydactyly, Bidirectional shunt, Aortic re... OMIM:619534
Frontofacionasal Dysplasia
Cranium bifidum occultum, Microphthalmia OMIM:229400
Oculocerebrorenal Syndrome Of Lowe
Abnormal metaphysis morphology, Microphthalmia, Genu valgum, Umbilical hernia, Abnormal epiphysis... ORPHA:534
Coffin-Siris Syndrome 12
Hip subluxation, Macrocephaly, Hippocampal atrophy, Slender finger, Microcephaly, Broad thumb, Ra... OMIM:619325
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight ORPHA:79240
Doors Syndrome
Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sirenomelia, Clinodactyly of the 5th finger, ... ORPHA:79500
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Short clavicles, Short long bone, Postaxial hand polydactyly, Postaxial polydactyly, Brachydactyl... OMIM:617088
Von Hippel-Lindau Disease
Epididymal cyst, Papillary cystadenoma of the epididymis ORPHA:892
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Macrocephaly, Sandal gap, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Toe... OMIM:620330
Mowat-Wilson Syndrome
Microphthalmia, Focal white matter lesions, Microcephaly, Pulmonic stenosis, Aortic valve stenosi... ORPHA:2152
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder musculature, Syndactyly ORPHA:1521
Trichorhinophalangeal Syndrome, Type Ii
Hip subluxation, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the ha... OMIM:150230
Specc1L-Related Hypertelorism Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Umbilical hernia, Short toe, Brachydactyly, Ar... ORPHA:1519
Loeys-Dietz Syndrome 1
Dural ectasia, Hydrocephalus, Postaxial hand polydactyly, Camptodactyly, Postaxial polydactyly, A... OMIM:609192
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Finger syndactyly, Genu varum ORPHA:1969
Proteus Syndrome
Macrodactyly, Macrocephaly, Sirenomelia, Abnormality of the wrist, Clinodactyly of the 5th finger... ORPHA:744
Bardet-Biedl Syndrome
Finger syndactyly, Hypertension, Cardiomyopathy, Postaxial polydactyly, Syndactyly, Brachydactyly... ORPHA:110
Floating-Harbor Syndrome
Hypospadias, Precocious puberty, Varicocele, Epididymal cyst, Cryptorchidism ORPHA:2044
Hellp Syndrome
Increased body weight ORPHA:244242
Mowat-Wilson Syndrome
Hypoplasia of the corpus callosum, Microphthalmia, Aplasia/Hypoplasia of the cerebral white matte... OMIM:235730
Menkes Disease
Woolly hair, Hypopigmentation of hair, Sparse hair ORPHA:565
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Norrie Disease
Microphthalmia, Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Microcephaly, Cerebral co... ORPHA:649
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Palmoplantar keratoderma, Finger syndactyly, Clinodactyly of the 5th finger ORPHA:1071
Kindler Epidermolysis Bullosa
Short 4th metacarpal, Finger syndactyly, Camptodactyly of finger, Palmoplantar keratoderma, Short... ORPHA:2908
Hennekam Syndrome
Finger syndactyly, Camptodactyly of finger, Pachygyria ORPHA:2136
Cushing Disease
Abdominal obesity, Increased body weight, Truncal obesity ORPHA:96253
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Pmm2-Cdg
Hyperplastic labia majora, Reduced thyroxin-binding globulin, Decreased testicular size, Hypoalbu... ORPHA:79318
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Cushing Syndrome Due To Ectopic Acth Secretion
Abdominal obesity, Increased body weight, Truncal obesity, Weight loss ORPHA:99889
Carney Complex
Abdominal obesity, Tall stature, Increased body weight ORPHA:1359

Histopathology

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

Phenotype Allele Zygosity Sex Life Stage
Eye - MPATH pathological entity term cataract; lens extrusion Zc3h4em1(IMPC)Mbp HET Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Zc3h4.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
ZC3H4-a novel Cys-Cys-Cys-His-type zinc finger protein-is essential for early embryogenesis in mice†. Biology of reproduction (February 2021) Zc3h4em1(IMPC)Mbp 33246328

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Zc3h4em1(IMPC)Mbp Exon Deletion Mice, Tissue
Zc3h4tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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