Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
syndactyly Zc3h4em1(IMPC)Mbp HET E15.5 0.00
microcephaly Zc3h4em1(IMPC)Mbp HET E15.5 0.00
preweaning lethality, complete penetrance Zc3h4em1(IMPC)Mbp HOM   Early adult 0.00
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
microphthalmia Zc3h4em1(IMPC)Mbp HET E15.5 0.00
polydactyly Zc3h4em1(IMPC)Mbp HET E15.5 0.00
anophthalmia Zc3h4em1(IMPC)Mbp HET E15.5 0.00
embryonic lethality prior to organogenesis Zc3h4em1(IMPC)Mbp HOM   E9.5 0.00
spina bifida Zc3h4em1(IMPC)Mbp HET E15.5 0.00
abnormal eye morphology Zc3h4em1(IMPC)Mbp HET Early adult 0.00
hemorrhage Zc3h4em1(IMPC)Mbp HET E15.5 0.00
abnormal coat/hair pigmentation Zc3h4em1(IMPC)Mbp HET Early adult 1.66×10-06
enlarged epididymis Zc3h4em1(IMPC)Mbp HET Early adult 0.00
increased circulating serum albumin level Zc3h4em1(IMPC)Mbp HET Early adult 9.88×10-05
increased circulating calcium level Zc3h4em1(IMPC)Mbp HET   Early adult 4.62×10-05

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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.


XRay Images Whole Body Dorso Ventral

55 Images


XRay Images Whole Body Lateral Orientation

23 Images



3 Images

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
Matching phenotypes Source
Gombo Syndrome
Microphthalmia, Microcephaly, Radial deviation of finger, Clinodactyly, Brachydactyly OMIM:233270
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Syndactyly Type 2
Postaxial foot polydactyly, Camptodactyly of finger, 3-4 finger syndactyly, Mesoaxial polydactyly... ORPHA:93403
Polydactyly, Preaxial Ii
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Preaxial foot polydactyly,... OMIM:174500
Synpolydactyly 1
Postaxial foot polydactyly, 2nd-5th toe middle phalangeal hypoplasia, 3-4 finger syndactyly, Y-sh... OMIM:186000
Polydactyly, Postaxial, Type A1
Postaxial foot polydactyly, Syndactyly, Preaxial foot polydactyly, Broad thumb, Postaxial hand po... OMIM:174200
Increased waist to hip ratio, Obesity OMIM:601665
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Macrocephaly, Polymicrogyria, Hydrocephalus, Syndactyly, Megalencephaly, Thick corpus callosum, P... OMIM:615938
Syndactyly, Type Iv
Polydactyly, Postaxial polydactyly, 1-5 finger complete cutaneous syndactyly, Supernumerary metac... OMIM:186200
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Symphalangism With Multiple Anomalies Of Hands And Feet
Short distal phalanx of hallux, Macrocephaly, Small thenar eminence, Aplasia/Hypoplasia of the di... ORPHA:3246
Syndactyly Type 1
Toe syndactyly, Finger syndactyly, Symphalangism affecting the phalanges of the hand ORPHA:93402
Spinal Muscular Atrophy With Mental Retardation
Syndactyly, Microcephaly OMIM:271109
Syndactyly, Type Iii
4-5 finger syndactyly, Short 5th finger, Syndactyly, Absent middle phalanx of 5th finger OMIM:186100
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly 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
Congenital hip dislocation, Limited pronation/supination of forearm, Polydactyly, Dislocated radi... ORPHA:3269
Brachydactyly, Type C
Ulnar deviation of the 3rd finger, Enlarged epiphysis of the proximal phalanx of the 2nd finger, ... OMIM:113100
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormal hip bone morphology, Finger syndactyly, Abnormality of the upper limb, Bilateral single ... ORPHA:1891
Nevus Comedonicus Syndrome
Spina bifida, Preaxial polydactyly, Finger syndactyly, Toe syndactyly, Spina bifida occulta, Micr... ORPHA:64754
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Polydactyly, Cutaneous syndactyly OMIM:607539
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Polydactyly, Preaxial Iv
1-5 toe syndactyly, 3-4 finger syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalange... OMIM:174700
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microcephaly, Microphthalmia OMIM:616335
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis OMIM:263450
Microphthalmia, Isolated 4
Microphthalmia, Postaxial polydactyly OMIM:613094
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Meckel Syndrome, Type 8
Encephalocele, Polydactyly, Occipital encephalocele, Microphthalmia, Microcephaly, Talipes equino... OMIM:613885
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly, Microcephaly OMIM:241000
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Camptodactyly of finger, Spina bifida, Finger syndactyly, Synosto... ORPHA:957
Mmep Syndrome
Triphalangeal thumb, Microcephaly, Microphthalmia, Split foot ORPHA:3434
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Jawad Syndrome
Primary microcephaly, Hallux valgus, Postaxial polydactyly, Short middle phalanx of the 5th finge... OMIM:251255
Syndactyly Type 5
Short distal phalanx of finger, Camptodactyly of finger, 3-4 finger syndactyly, Ulnar deviation o... ORPHA:93406
Acropectoral Syndrome
Finger syndactyly, Preaxial hand polydactyly ORPHA:85203
Fryns Microphthalmia Syndrome
Neural tube defect, Anophthalmia, Microphthalmia OMIM:600776
Wahab Syndrome
Camptodactyly, Short thumb, Short metacarpal, Syndactyly, Adducted thumb, Short palm, Clinodactyl... OMIM:615170
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Duplication of metatarsal bones, Syndactyly, Microcephaly, Cutaneous finger syndactyly, Aplasia/H... OMIM:600384
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Rocker bottom foot, Microcephaly, Cerebellar hypoplasia, Talipes equinovarus, Age... OMIM:616570
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Orbital encephalocele, Anophthalmia, Dandy-Walker malformation, Micro... OMIM:164180
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Griscelli Syndrome, Type 3
White eyelashes, Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair OMIM:609227
Syndactyly Type 3
Camptodactyly of finger, Short toe, Finger syndactyly ORPHA:93404
Syndactyly Type 4
Camptodactyly of finger, Hand polydactyly, Short tibia, Toe syndactyly, 1-5 finger syndactyly, Fo... ORPHA:93405
Santos Syndrome
Oligodactyly, Polydactyly, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Metatarsus ad... OMIM:613005
Spina bifida, Hydrocephalus, Holoprosencephaly, Postaxial hand polydactyly, Aplasia/Hypoplasia of... ORPHA:945
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, Melanin pigment aggregation in hair shafts, Large clu... OMIM:214450
Acropectorovertebral Dysplasia
Short thumb, Capitate-hamate fusion, Finger syndactyly, Synostosis of carpal bones, Toe syndactyl... OMIM:102510
Anencephaly 2
Anophthalmia, Anencephaly OMIM:619452
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger ORPHA:71289
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Primary microcephaly, Thin corpus callosum, Partial agenesis of the corpus callosum, Dysgenesis o... OMIM:615771
Frontal Encephalocele
Encephalocele, Macrocephaly, Hydrocephalus, Spina bifida, Cerebral calcification, Aplasia/Hypopla... ORPHA:1931
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Ectrodactyly, Finger syndactyly, Abnormal metacarpal morphology, Postaxi... ORPHA:1892
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Ulnar Hemimelia
Abnormal calcification of the carpal bones, Aplasia of metacarpal bones, Abnormality of the humer... ORPHA:93320
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Dermatoglyphic ridges abnormal, Camptodactyly, Small thenar eminence, Spina bifida, Small hypothe... OMIM:211960
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of metatarsal bones, Ectrodactyly, Syndactyly, Aplasia/Hypoplasia of the phala... OMIM:605289
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Brachydactyly, Type A2
Medially deviated second toe, Hallux valgus, Aplasia/Hypoplasia of the middle phalanx of the 2nd ... OMIM:112600
Brachydactyly Type A7
Medially deviated second toe, Broad distal phalanx of the thumb, Hallux valgus, Short middle phal... ORPHA:93397
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Microphthalmia With Brain And Digit Anomalies
Inferior cerebellar vermis hypoplasia, Postaxial foot polydactyly, Proximal placement of thumb, F... ORPHA:139471
Liebenberg Syndrome
2-3 finger syndactyly, Metaphyseal widening, Joint contracture of the 5th finger, Abnormal carpal... OMIM:186550
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Crossed Polysyndactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly ORPHA:2935
Humero-Radial Synostosis
Elbow ankylosis, Meningocele, Abnormality of the wrist, Aplasia/Hypoplasia of the thumb, Microcep... ORPHA:3265
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly OMIM:185900
Microphthalmia With Limb Anomalies
Foot oligodactyly, Postaxial foot polydactyly, 2-3 toe cutaneous syndactyly, Hip dislocation, Met... OMIM:206920
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Dilated cardiomyopathy, Clinodactyly, Aplasia of the middle phalanx of the hand, Brac... OMIM:610140
Hypercalcemia ORPHA:55881
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Short thumb, Finger syndactyly, Synostosis of carpal bones, Aplasia/Hypoplasia of the hallux, Toe... ORPHA:157801
Sandal gap, Microcephaly, Dilated cardiomyopathy, Clinodactyly of the 5th finger OMIM:251220
Brachydactyly-Syndactyly Syndrome
Oligodactyly, Camptodactyly, Finger syndactyly, Syndactyly, Short digit, Short phalanx of finger,... OMIM:610713
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the elbow, Radioulnar synostosis, Microcephaly, Clinodactyly of... ORPHA:3268
Adams-Oliver Syndrome 4
Umbilical hernia, Microphthalmia, Aplasia of the middle phalanx of the 4th toe, Short toe, Absent... OMIM:615297
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Agenesis of cerebellar vermis, Postaxial polydactyly OMIM:213010
Greig Cephalopolysyndactyly Syndrome
Macrocephaly, Postaxial foot polydactyly, Hydrocephalus, Umbilical hernia, Finger syndactyly, Pre... ORPHA:380
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Aphalangy-Syndactyly-Microcephaly Syndrome
Camptodactyly of finger, Postaxial foot polydactyly, Short distal phalanx of finger, Abnormal met... ORPHA:1113
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Syndactyly, Polydactyly, Upper limb phocomelia ORPHA:294975
Fibular Hemimelia
Oligodactyly, Short tibia, Toe syndactyly, Short toe, Fibular aplasia, Abnormal morphology of uln... ORPHA:93323
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the distal phalanx of the 2nd toe, 1-2 toe complete cutaneous syndactyly, A... ORPHA:488232
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Aplasia Cutis Congenita
Toe syndactyly, Spinal dysraphism, Finger syndactyly ORPHA:1114
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Overlapping fingers, Overlapping toe, Hallux varus, ... OMIM:618167
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Clinodactyly, Syndactyly, Microphthalmia, Brachydactyly OMIM:610023
15Q11Q13 Microduplication Syndrome
Macrocephaly, Finger syndactyly, Clinodactyly of the 5th finger ORPHA:238446
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microcephaly, Microphthalmia OMIM:614082
Syndactyly, Type V
Short distal phalanx of finger, Camptodactyly of finger, Absent distal interphalangeal creases, 4... OMIM:186300
Craniotelencephalic Dysplasia
Frontal encephalocele, Hydrocephalus, Septo-optic dysplasia, Microphthalmia, Lissencephaly, Micro... ORPHA:1528
Split-Hand/Foot Malformation 6
Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hand oligodactyly, Split hand, Split foot OMIM:225300
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Summitt Syndrome
Obesity OMIM:272350
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Meckel Syndrome, Type 2
Encephalocele, Polydactyly, Meningocele, Microphthalmia, Anencephaly, Postaxial hand polydactyly,... OMIM:603194
Craniotelencephalic Dysplasia
Frontal encephalocele, Absent septum pellucidum, Microphthalmia, Optic nerve hypoplasia, Lissence... OMIM:218670
Split-Hand/Foot Malformation 1
Foot oligodactyly, Ectrodactyly, Syndactyly, Broad hallux, Clinodactyly, Triphalangeal thumb, Han... OMIM:183600
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Microphthalmia, Anencep... OMIM:611134
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age ORPHA:356996
Joubert Syndrome 22
Postaxial foot polydactyly, Agenesis of cerebellar vermis, Temporal cortical atrophy, Microphthal... OMIM:615665
Meckel Syndrome, Type 5
Postaxial foot polydactyly, Occipital encephalocele, Microphthalmia, Anencephaly, Postaxial hand ... OMIM:611561
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Albinism, Oculocutaneous, Type Iii
Partial albinism, Red hair, Albinism OMIM:203290
Biemond Syndrome Type 2
Hydrocephalus, Microphthalmia, Preaxial polydactyly ORPHA:141333
Congenital Varicella Syndrome
Cerebral cortical atrophy, Microcephaly, Microphthalmia ORPHA:291
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Spina bifida, Anencephaly ORPHA:2476
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Cryptorchidism, Micropenis, Hypercalcemia, Hypospadias OMIM:614732
Anophthalmia Plus Syndrome
Deviation of finger, Anophthalmia, Spina bifida ORPHA:1104
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Spinal dysraphism, Long proximal phalanx of finger, Congenital hip dislocation, Slender distal ph... OMIM:603546
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Lissencephaly 8
Type II lissencephaly, Polymicrogyria, Occipital encephalocele, Microphthalmia, Hypoplasia of the... OMIM:617255
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polymicrogyria, Polydactyly, Hydrocephalus, Syndactyly, Microphthalmia, Megalencephaly, Progressi... OMIM:602501
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
3-4 finger syndactyly, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypopl... OMIM:609432
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Prominent protruding coccyx, Bilateral microphthalmos, Hydranencephaly, ... ORPHA:2839
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Macrocephaly, Cerebral atrophy, Spindle-shaped finger, Cutaneous syndactyly, Delayed epiphyseal o... ORPHA:166024
Tietz Syndrome
White eyebrow, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of skin pigmen... ORPHA:42665
Brachydactyly Type B
Short distal phalanx of finger, 2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Syno... ORPHA:93383
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Bullet-shaped distal phalanx of the hallux, Microphthalmia, Long fingers... ORPHA:1617
Hydrocephalus, Absent septum pellucidum, Microphthalmia, Anencephaly, Postaxial hand polydactyly,... ORPHA:2189
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Focal cortical dysplasia, Hydrocephalus, Cardiomyopathy, Microphthalmia, Abnormal left ventricula... OMIM:613155
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Seckel Syndrome 2
Microphthalmia, Microcephaly, Cerebellar hypoplasia, Heart murmur, Clinodactyly of the 5th finger OMIM:606744
Septooptic Dysplasia
Short finger, Optic disc hypoplasia, Polydactyly, Absent septum pellucidum, Optic nerve hypoplasi... OMIM:182230
Diffuse Neonatal Hemangiomatosis
Abnormal vagina morphology, Hypercalcemia ORPHA:2123
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Short phalanx of finger, Split hand, Split foot OMIM:313350
Brachydactyly Type B2
Short distal phalanx of finger, Finger syndactyly, Synostosis of carpal bones, Short toe, Short d... ORPHA:140908
Bardet-Biedl Syndrome 22
Macrocephaly, Postaxial foot polydactyly, Microcephaly, Polydactyly OMIM:617119
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, Camptodactyly of finger, Hallux valgus, Spina bifida, Scapular wi... ORPHA:1327
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Split-Foot Malformation With Mesoaxial Polydactyly
Mesoaxial hand polydactyly, 4-5 toe syndactyly, 1-2 toe syndactyly, Split hand, Split foot OMIM:616890
Czeizel-Losonci Syndrome
2-3 finger syndactyly, 3-4 finger syndactyly, Hydrocephalus, Spina bifida, Myelomeningocele, Ectr... ORPHA:2437
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Cerebellar hypoplasia, Microphthalmia, Hydrocephalus OMIM:614830
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Partial agenesis of the corpus callosum, Hypoplasia of the pons, Simplified gyr... OMIM:616171
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Synpolydactyly 2
Polydactyly, Metatarsal synostosis, Toe syndactyly, Carpal synostosis, Metacarpal synostosis, Tar... OMIM:608180
Acropectoral Syndrome
Partial duplication of thumb phalanx, Triphalangeal thumb, Preaxial polydactyly OMIM:605967
Bardet-Biedl Syndrome 7
Clinodactyly, 2-3 toe syndactyly, Polydactyly, Postaxial polydactyly OMIM:615984
Curry-Jones Syndrome
Finger syndactyly, Microphthalmia, Toe syndactyly, Broad thumb, Abnormality of thumb phalanx, Pre... ORPHA:1553
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Hidrotic Ectodermal Dysplasia
Anonychia, Absent pubic hair, Absent axillary hair, Sparse axillary hair, Fine hair, Slow-growing... ORPHA:189
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
1-4 finger syndactyly, Camptodactyly, 2-3 finger syndactyly, 3-4 finger syndactyly, 2-4 finger sy... OMIM:225280
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Microphthalmia, Isolated 8
True anophthalmia, Anophthalmia, Microphthalmia, Optic nerve hypoplasia OMIM:615113
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Microcephaly, Microphthalmia ORPHA:3469
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Hartsfield Syndrome
Encephalocele, Lobar holoprosencephaly, Microphthalmia, Aplasia/Hypoplasia of the corpus callosum... ORPHA:2117
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Hallux valgus, Toe syndactyly, Short middle phalanx of the 5th finger, Sh... ORPHA:93409
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Narcolepsy Type 1
Obesity ORPHA:2073
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Hydrocephalus, Occipital encephalocele, Microphthalmia, Macrocephaly at birth ORPHA:324416
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity OMIM:618406
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Frontonasal Dysplasia 1
Pericallosal lipoma, Camptodactyly, Anterior basal encephalocele, Microphthalmia, Postaxial hand ... OMIM:136760
Temtamy Syndrome
Macrocephaly, Genu varum, Microphthalmia, Clinodactyly of the 5th finger, Short toe, Aplasia/Hypo... ORPHA:1777
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Carpenter Syndrome
Polydactyly, Umbilical hernia, Finger syndactyly, Syndactyly, Preaxial foot polydactyly, Toe synd... ORPHA:65759
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Proximal placement of thumb, Spina bifida, Tricuspid... ORPHA:1120
Dihydropyrimidine Dehydrogenase Deficiency
Agenesis of corpus callosum, Microcephaly, Microphthalmia, Cerebral atrophy OMIM:274270
Xeroderma Pigmentosum, Complementation Group G
Microcephaly, Microphthalmia OMIM:278780
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Osseous finger syndactyly, Short distal phalanx of t... ORPHA:370010
Microphthalmia, Syndromic 8
Microcephaly, Microphthalmia, Split foot OMIM:601349
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation, Hypospadias ORPHA:1355
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Braddock-Carey Syndrome 2
Clinodactyly, Microcephaly, Microphthalmia OMIM:619981
Walker-Warburg Syndrome
Macrocephaly, Abnormal cortical gyration, Polymicrogyria, Macrogyria, Hydrocephalus, Absent septu... ORPHA:899
Microphthalmia ORPHA:35612
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Obesity OMIM:240900
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly OMIM:615397
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcephaly, Microphthalmia ORPHA:2528
Microphthalmia With Limb Anomalies
Hip dislocation, Short tibia, Abnormality of the upper limb, Toe syndactyly, Broad thumb, Bilater... ORPHA:1106
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the ... OMIM:228930
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Isolated Split Hand-Split Foot Malformation
Oligodactyly, Absent hand, Finger syndactyly, Aniridia, Split hand ORPHA:2440
Cofs Syndrome
Camptodactyly of finger, Cerebral calcification, Microphthalmia, Microcephaly, Aplasia/Hypoplasia... ORPHA:1466
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Macrocephaly, Syndactyly, Clinodactyly of the 5th finger, Tapered finger OMIM:618725
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
17Q12 Microduplication Syndrome
Toe syndactyly, Finger syndactyly, Microphthalmia, Cortical dysplasia ORPHA:261272
Facial Clefting, Oblique, 1
Deep palmar crease, Microphthalmia OMIM:600251
Schisis Association
Encephalocele, Spina bifida, Microcephaly, Anencephaly ORPHA:63862
Hypomelanosis Of Ito
Macrocephaly, Hand polydactyly, Cerebral atrophy, Syndactyly, Microcephaly, Radial deviation of f... OMIM:300337
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Proximal Symphalangism
Elbow ankylosis, Camptodactyly of finger, Abnormality of the wrist, Synostosis of carpal bones, F... ORPHA:3250
Trisomy 1Q
Macrocephaly, Camptodactyly of finger, Hydrocephalus, Toe syndactyly, Cerebellar hypoplasia, Agen... ORPHA:261344
Adams-Oliver Syndrome 3
Short distal phalanx of finger, Absent toe, Short metatarsal, Short palm, Microcephaly, 2-3 toe s... OMIM:614814
Brachydactyly, Type B2
Short distal phalanx of finger, Absent phalangeal crease, Aplasia/Hypoplasia of the distal phalan... OMIM:611377
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Spinal dysraphism, Hydrocephalus, Meningocele, Finger syndactyly, Holoprosencephal... ORPHA:1908
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Pelvis-Shoulder Dysplasia
Hypoplastic ilia, Congenital hip dislocation, Hypoplastic acetabulae, Hypoplastic scapulae, Micro... OMIM:169550
Long Qt Syndrome 8
Prolonged QTc interval, Syncope, Aborted sudden cardiac death, Syndactyly, Sudden cardiac death, ... OMIM:618447
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormality of the elbow, Humeroradial synostosis, Abnormal mor... ORPHA:2019
Linear Skin Defects With Multiple Congenital Anomalies 2
Pulmonary arterial hypertension, Microphthalmia, Microcephaly, Sandal gap, Hypoplasia of the corp... OMIM:300887
Nanophthalmos 4
Microphthalmia OMIM:615972
Waardenburg Syndrome, Type 2F
Blue irides, Hypermelanotic macule, Premature graying of hair, Cafe-au-lait spot, White hair, Hyp... OMIM:619947
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Laurin-Sandrow Syndrome
Limb duplication, Absent radius, Absent tibia, Hydrocephalus, Finger syndactyly, Abnormality of t... ORPHA:2378
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the pons, Hypoplasia of the corpus callosum, Anophthalmia, Occipital cortical atrophy ORPHA:411986
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Syndactyly, Cerebral white matter hypoplasia, Pachygyria, Microcephaly, Clinodactyly, Hypoplasia ... OMIM:619091
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Macrocephaly, Hydrocephalus, Metaphyseal cupping, Hypoplasia of the calcaneus, Microphthalmia, Me... OMIM:300863
Uncombable Hair Syndrome
Patchy alopecia, White hair, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia ORPHA:1410
Obesity And Hypopigmentation
Overgrowth, Obesity OMIM:620195
Warburg Micro Syndrome 1
Cerebral atrophy, Overlapping toe, Perisylvian polymicrogyria, Microphthalmia, Microcephaly, Cere... OMIM:600118
Fountain Syndrome
Macrocephaly, Short distal phalanx of finger, Spina bifida, Abnormal metacarpal morphology, Coars... ORPHA:3219
Woolly Hair
Sparse body hair, Fine hair, Brittle hair, Abnormality of hair texture, Sparse lateral eyebrow, S... ORPHA:170
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism OMIM:606952
Bardet-Biedl Syndrome 4
Syndactyly, Polydactyly, Brachydactyly OMIM:615982
Fanconi Anemia, Complementation Group J
Short thumb, Microphthalmia OMIM:609054
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Solitary Median Maxillary Central Incisor
Holoprosencephaly, Anophthalmia, Microcephaly, Microphthalmia OMIM:147250
Fanconi Anemia, Complementation Group R
Radial dysplasia, Hydrocephalus, Microphthalmia, Microcephaly, Tethered cord, Absent thumb OMIM:617244
Curry-Jones Syndrome
Hemimegalencephaly, Polymicrogyria, 2-3 finger syndactyly, Triphalangeal hallux, Microphthalmia, ... OMIM:601707
Carcinoma Of Esophagus
Weight loss, Obesity ORPHA:70482
Aminopterin Syndrome Sine Aminopterin
Macrocephaly, Rudimentary postaxial polydactyly of hands, Short thumb, Umbilical hernia, Syndacty... OMIM:600325
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Oculoskeletodental Syndrome
Cryptorchidism, Low posterior hairline, Low anterior hairline, Hypocalcemia, Hypercalcemia OMIM:618440
Joubert Syndrome 40
Optic nerve hypoplasia, Postaxial polydactyly OMIM:619582
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Preaxial polydactyly, Postaxial polydactyly, Short middle phalanx... OMIM:617927
Neu-Laxova Syndrome 2
Spina bifida, Finger syndactyly, Rocker bottom foot, Toe syndactyly, Microcephaly, Cerebellar hyp... OMIM:616038
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cerebral atrophy, Simplified gyral pattern, Microphthalmia, Pachygyria, Microcephaly, Cerebellar ... OMIM:251270
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split hand, Split foot DECIPHER:46
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Chiari Malformation Type Ii
Syringomyelia, Cervical myelopathy, Spina bifida, Hydrocephalus, Myelomeningocele, Agenesis of co... OMIM:207950
Meckel Syndrome, Type 3
Postaxial foot polydactyly, Polydactyly, Hydrocephalus, Occipital encephalocele, Postaxial hand p... OMIM:607361
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormality of femur morphology, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Abnormality... ORPHA:2141
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation OMIM:126070
Oculoskeletodental Syndrome
Abnormality of the frontal hairline, Hypocalcemia, Hypercalcemia ORPHA:557003
2P21 Microdeletion Syndrome
Long eyelashes, Hypocalcemia, Hypogonadism ORPHA:163693
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Melanin pigment aggrega... OMIM:607624
Greig Cephalopolysyndactyly Syndrome
Macrocephaly, Postaxial foot polydactyly, Camptodactyly of toe, 3-4 finger syndactyly, Hydrocepha... OMIM:175700
Sirenomelia, Spinal dysraphism, Bifid sternum, Cervical spina bifida, Myelomeningocele, Anencephaly ORPHA:63260
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Macrocephaly, Polymicrogyria, Mitral regurgitation, Abnormally large globe, Postaxial polydactyly... OMIM:603387
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Polymicrogyria, Hydrocephalus, Hypoplasia of the pons, Microphthalmia, Opt... OMIM:615181
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Increased total bilirubin, Increased serum bile acid concentration... OMIM:619868
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Macrocephaly, 3-4 finger syndactyly, Microphthalmia, 2-3 toe syndactyly, Anophthalmia OMIM:615877
Trisomy 13
Bilateral single transverse palmar creases, Ectrodactyly, Microphthalmia, Postaxial hand polydact... ORPHA:3378
Microphthalmia, Syndromic 13
Microcephaly, Microphthalmia OMIM:300915
Infantile Myofibromatosis
Abnormal hair morphology, Irregular hyperpigmentation, Hypercalcemia ORPHA:2591
Pierpont Syndrome
Short finger, Abnormal cortical gyration, Primary microcephaly, Excessive wrinkling of palmar ski... ORPHA:487825
Periventricular Nodular Heterotopia 1
Short finger, Thin corpus callosum, Cerebral hemorrhage, Syndactyly, Cerebellar hypoplasia, Clino... OMIM:300049
Joubert Syndrome 16
Encephalocele, Dandy-Walker malformation, Polydactyly OMIM:614465
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Moebius Syndrome
Clinodactyly, Camptodactyly, Syndactyly, Microphthalmia, Lower limb undergrowth, Aplasia/Hypoplas... OMIM:157900
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Hypermethioninemia, Hypoalbuminemia OMIM:613752
Fatco Syndrome
Absent hand, Abnormality of fibula morphology, Finger syndactyly, Abnormality of tibia morphology... ORPHA:2492
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia OMIM:615863
Developmental Delay With Variable Neurologic And Brain Abnormalities
Down-sloping shoulders, Camptodactyly, Thin corpus callosum, Microphthalmia, Microcephaly, Cubitu... OMIM:619694
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Type II lissencephaly, Agenesis of cerebellar vermis, Agenesis of corpus callosum, Hydrocephalus,... OMIM:613153
Cerebrooculonasal Syndrome
Postaxial hand polydactyly, Anophthalmia ORPHA:66625
Waardenburg Syndrome, Type 2B
White forelock, Premature graying of hair, Heterochromia iridis OMIM:600193
Woolly Hair Nevus
Woolly scalp hair, Congenital posterior occipital alopecia, Patchy hypopigmentation of hair, Curl... ORPHA:79414
Summitt Syndrome
Macrocephaly, Camptodactyly of finger, Finger syndactyly, Short 4th metacarpal, Clinodactyly of t... ORPHA:3210
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Pheochromocytoma--Islet Cell Tumor Syndrome
Cafe-au-lait spot, Axillary freckling, Hypercalcemia OMIM:171420
Laurin-Sandrow Syndrome
Patellar aplasia, Hand polydactyly, Absent radius, Absent tibia, Syndactyly, Triphalangeal thumb,... OMIM:135750
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Holoprosencephaly, Microphthalmia, Agenesis of corpus callosum, Anophthalmia ORPHA:77298
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Metaphyseal chondrodysplasia, Hydrocephalus, Microphthalmia, Short palm, Cerebellar hypoplasia, A... ORPHA:163966
Microgastria-Limb Reduction Defect Syndrome
Abnormal cortical gyration, Oligodactyly, Abnormality of the humerus, Absent hand, Short thumb, P... ORPHA:2538
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Adams-Oliver Syndrome 2
Macrocephaly, Polymicrogyria, Cerebral atrophy, Hydrocephalus, Microphthalmia, Short middle phala... OMIM:614219
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Gordon Syndrome
Camptodactyly of finger, Finger syndactyly, Clinodactyly of the 5th finger ORPHA:376
Pierpont Syndrome
Short finger, Deep palmar crease, Microphthalmia, Short toe, Broad palm, Short palm, Microcephaly... OMIM:602342
Nail-Patella Syndrome
Limited elbow extension, Patellar aplasia, Hypoplastic radial head, Spina bifida, Iliac horns, Di... OMIM:161200
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of hair, Albinism OMIM:606574
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Nephronophthisis 15
Cerebellar vermis hypoplasia, Polydactyly OMIM:614845
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Chromosome 17P13.1 Deletion Syndrome
Hallux valgus, Hip dysplasia, Proximal placement of thumb, Hydrocephalus, Spina bifida, Umbilical... OMIM:613776
Tibial Aplasia-Ectrodactyly Syndrome
Patellar aplasia, Abnormality of fibula morphology, Ectrodactyly, Finger syndactyly, Short femur,... ORPHA:3329
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Small thenar eminence, Pulmonic stenosis, Joint contracture of the 5th finger, Umb... OMIM:618914
Meckel Syndrome, Type 10
Postaxial foot polydactyly, Camptodactyly, Postaxial polydactyly, Ulnar deviation of the hand, Oc... OMIM:614175
Hypercalcemia ORPHA:436
Joubert Syndrome 18
Camptodactyly, Agenesis of cerebellar vermis, Postaxial polydactyly, Trident pelvis, Occipital en... OMIM:614815
Camptodactyly of finger, Ulnar deviation of finger, Finger syndactyly, Aplasia/Hypoplasia of the ... ORPHA:1319
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... OMIM:616000
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Short tibia, Syndactyly, Abnormality of the hand, Fibular aplasia, Hand oligod... OMIM:246570
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Grange Syndrome
Hypertension, Syndactyly, Short palm, Aortic regurgitation ORPHA:79094
Cerebrooculofacioskeletal Syndrome 4
Polymicrogyria, Camptodactyly of finger, Hip dislocation, Bilateral microphthalmos, Flexion contr... OMIM:610758
Joubert Syndrome 10
Macrocephaly, Cerebellar vermis hypoplasia, Postaxial polydactyly OMIM:300804
Thrombocytopenia-Absent Radius Syndrome
Hip dislocation, Short thumb, Carpal synostosis, Fibular aplasia, Broad thumb, Abnormal shoulder ... OMIM:274000
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Macrocephaly, Polydactyly, Flattened epiphysis, Tapered finger, Clinodactyl... OMIM:607131
Focal Dermal Hypoplasia
Camptodactyly of finger, Hand polydactyly, Spina bifida, Telangiectasia of the skin, Umbilical he... ORPHA:2092
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Type II lissencephaly, Progressive microcephaly, Abnormally large globe, Hydrocephalus, Microphth... OMIM:615249
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Proximal placement of thumb, Abnormal epiphysis morphology, Micro... ORPHA:93267
Non Rare In Europe: Central Precocious Puberty
Obesity, Overgrowth, Increased body weight ORPHA:759
Meckel Syndrome
Encephalocele, Postaxial foot polydactyly, Hydrocephalus, Anophthalmia, Lobar holoprosencephaly, ... ORPHA:564
Alpha-Heavy Chain Disease
Alopecia, Hypocalcemia ORPHA:100025
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Duplication of phalanx of hand, Hip dislocation, Broad phalanx, Spina bifida, Overlapping toe, Ab... ORPHA:508498
2-3 finger syndactyly, Diaphyseal thickening, Finger syndactyly, Curved distal phalanges of the hand ORPHA:3152
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hirsutism, Hypocalcemia, Hypercholesterolemia OMIM:612526
Vacterl With Hydrocephalus
Hip dislocation, Hydrocephalus, Spina bifida, Hypoplasia of the radius, Aqueductal stenosis, Micr... ORPHA:3412
Monosomy 5P
Finger syndactyly, Microcephaly, Small hand ORPHA:281
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Cerebrooculonasal Syndrome
Encephalocele, Macrocephaly, Postaxial polydactyly, Hydrocephalus, Dandy-Walker malformation, Opt... OMIM:605627
Caudal Duplication
Myelomeningocele, Spinal cord lesion, Spina bifida ORPHA:1756
Adams-Oliver Syndrome
Encephalocele, Short distal phalanx of finger, Absent hand, Pulmonary arterial hypertension, Hydr... ORPHA:974
Brachydactyly, Type B1
Camptodactyly, Aplasia/Hypoplasia of the distal phalanges of the hand, Type B brachydactyly, Synd... OMIM:113000
Basal Cell Nevus Syndrome 1
Macrocephaly, Down-sloping shoulders, Palmar pits, Polydactyly, Hydrocephalus, Spina bifida, Shor... OMIM:109400
Joubert Syndrome 14
Encephalocele, Agenesis of cerebellar vermis, Postaxial polydactyly, Hydrocephalus, Meningocele, ... OMIM:614424
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Mosaic Trisomy 9
Biparietal narrowing, Camptodactyly of finger, Hip dislocation, Spina bifida, Deep palmar crease,... ORPHA:99776
Bardet-Biedl Syndrome 9
Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Syndactyly, Postaxial hand polyda... OMIM:615986
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication OMIM:188740
Hypotrichosis 8
Nail pits, Ridged nail, Sparse axillary hair, Coarse hair, Woolly hair, Sparse eyebrow, Fair hair... OMIM:278150
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Obesity ORPHA:71529
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, External genital hypoplasia, Hypopigmentation of the skin, Hypopigmentatio... ORPHA:177910
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypoplastic ischia, Microcephaly, Polydactyly OMIM:616910
Intellectual Developmental Disorder, Autosomal Dominant 4
Short toe, Syndactyly OMIM:612581
Diabetic Embryopathy
Spinal dysraphism, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Aplasi... ORPHA:1926
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Bilateral single transverse palmar creases, Finger syndactyly, Short 4th met... ORPHA:264200
Hand polydactyly, Syndactyly, Short toe, Congenital finger flexion contractures, Brachydactyly OMIM:114150
Bartsocas-Papas Syndrome 2
Absent distal phalanges, 2-5 finger cutaneous syndactyly, Small hand, Microphthalmia OMIM:619339
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Spina bifida ORPHA:2345
Diethylstilbestrol Syndrome
Cryptorchidism, Micropenis, Abnormality of the uterus, Abnormal testis morphology, Testicular dys... ORPHA:1916
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating copper concentration, Fragile nails, Alopecia, Increased serum bile acid co... OMIM:242150
Orofaciodigital Syndrome Iv
Short finger, Hand polydactyly, Cerebral atrophy, Postaxial polydactyly, Short tibia, Porencephal... OMIM:258860
Microcephaly 20, Primary, Autosomal Recessive
Microlissencephaly, Simplified gyral pattern, Microphthalmia, Optic nerve hypoplasia, Small cereb... OMIM:617914
Cerebrocostomandibular Syndrome
Hydranencephaly, Spina bifida, Myelomeningocele, Meningocele, Cerebral calcification, Porencephal... ORPHA:1393
Congenital Toxoplasmosis
Cerebral calcification, Microcephaly, Microphthalmia, Hydrocephalus ORPHA:858
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Camptodactyly, Mitral regurgitation, Osteolysis involving bones of the lower limbs, Syndactyly, O... ORPHA:88630
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Chylomicron Retention Disease
Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypoalbuminemia OMIM:246700
Trisomy 18
Deviation of finger, Camptodactyly of finger, Narrow pelvis bone, Spina bifida, Abnormal hip bone... ORPHA:3380
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Increased blood urea nitrogen ORPHA:94059
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Tibial Hemimelia
Oligodactyly, Hip dislocation, Hip dysplasia, Polydactyly, Short tibia, Cutaneous finger syndacty... ORPHA:93322
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Macrocephaly, Polymicrogyria, Hand polydactyly, Hydrocephalus, Arrhythmia, Finger syndactyly, Toe... ORPHA:60040
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Microphthalmia, Symphalangism affecting the phalanges of the hand ORPHA:2547
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Cerebrooculofacioskeletal Syndrome 2
Camptodactyly of finger, Rocker bottom foot, Microcephaly, Microphthalmia OMIM:610756
Bresek Syndrome
Hydrocephalus, Microphthalmia, Optic nerve hypoplasia, Postaxial hand polydactyly, Microcephaly ORPHA:85284
Waardenburg Syndrome, Type 4B
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... OMIM:613265
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Camptodactyly of finger, Ulnar deviation of finger, Mitral regurgitation, Umbilical hernia, Tricu... ORPHA:1101
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypocalcemia, Hypokalemia, Hypomagnesemia OMIM:620152
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Microphthalmia, Syndromic 11
Agenesis of corpus callosum, Microphthalmia, Agenesis of pineal gland OMIM:614402
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Polymicrogyria, Microphthalmia, Optic nerve hypoplasia, Dysplastic corpus callosum, Microcephaly,... OMIM:614833
Waardenburg Syndrome, Type 2A
Synophrys, Premature graying of hair, Albinism, Numerous pigmented freckles, White eyelashes, Par... OMIM:193510
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Postaxial polydactyly, Flat acetabular roof... OMIM:617102
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Ermine Phenotype
Vitiligo, Spotty hyperpigmentation, Albinism, White hair, White eyelashes, White eyebrow OMIM:227010
Cousin Syndrome
Macrocephaly, Fibular aplasia, Joint contracture of the hand, Camptodactyly, Hydrocephalus, Hypop... OMIM:260660
Charlie M Syndrome
Finger syndactyly, Abnormal metacarpal morphology, Triphalangeal thumb, Split hand, Brachydactyly ORPHA:1406
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Syringomyelia, Congenital bilateral hip dislocation, Syndactyly, Cerebral cortical atrophy ORPHA:404451
Temtamy Preaxial Brachydactyly Syndrome
Proximal radio-ulnar synostosis, Partial duplication of the proximal phalanx of the 3rd finger, D... ORPHA:363417
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Upper limb asymmetry, Relative macrocephaly, Polydactyly, Clinodactyly of the 5th finger ORPHA:231140
Mesomelic Dysplasia, Nievergelt Type
Camptodactyly of finger, Abnormality of fibula morphology, Genu varum, Finger syndactyly, Abnorma... ORPHA:2633
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight OMIM:620065
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Bilateral talipes equinovarus, Preaxial polydactyly, Overlapping toe, Postaxial polydactyly, Micr... OMIM:618142
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Camptodactyly of finger, Short thumb, Finger syndactyly, Palmoplantar keratoderma, Triphalangeal ... ORPHA:2251
Albinism, Oculocutaneous, Type Ii
Blue irides, Freckles in sun-exposed areas, Albinism, Hypopigmentation of the skin, Hypopigmentat... OMIM:203200
20P13 Microdeletion Syndrome
Macrocephaly, Polydactyly, Finger syndactyly, Microcephaly, Clinodactyly, Brachydactyly ORPHA:313781
Microcephaly-Micromelia Syndrome
Oligodactyly, Forearm undergrowth, Absent radius, Simplified gyral pattern, Short tibia, Aqueduct... OMIM:251230
Temtamy Syndrome
Hip dislocation, Microphthalmia, Short 2nd toe, Aortic regurgitation, Thick corpus callosum, Tali... OMIM:218340
Encephalocele, Syringomyelia, Spinal dysraphism, Hydrocephalus, Spina bifida, Myelomeningocele, H... ORPHA:63259
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Microphthalmia ORPHA:83461
Cerebrooculofacioskeletal Syndrome 1
Camptodactyly, Second metatarsal posteriorly placed, Diffuse cerebral atrophy, Basal ganglia calc... OMIM:214150
Bardet-Biedl Syndrome 16
Polydactyly OMIM:615993
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets OMIM:612089
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Joubert Syndrome 23
Polydactyly, Dysplastic corpus callosum OMIM:616490
Cat-Eye Syndrome
Hip dysplasia, Microphthalmia ORPHA:195
Encephalocele, Macrocephaly, Spinal dysraphism, Hand polydactyly, Hydrocephalus, Arrhythmia, Dand... ORPHA:2162
Focal Dermal Hypoplasia
Short metatarsal, Toe syndactyly, Microcephaly, Short phalanx of finger, Brachydactyly, Osteopath... OMIM:305600
Adiposis Dolorosa
Obesity OMIM:103200
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Hypocalcemia, Autosomal Dominant 1
Increased circulating renin level, Hyperphosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:601198
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect OMIM:619165
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Amish Lethal Microcephaly
Spina bifida, Microcephaly, Lissencephaly, Agenesis of corpus callosum, Cerebellar vermis hypoplasia ORPHA:99742
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... ORPHA:33445
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Sandestig-Stefanova Syndrome
Camptodactyly, Primary microcephaly, Microphthalmia, Rocker bottom foot, Clinodactyly, Hypoplasia... OMIM:618804
Mosaic Trisomy 1
Macrocephaly, Camptodactyly of finger, Rocker bottom foot, Toe syndactyly, Cerebellar hypoplasia,... ORPHA:1692
Terminal Osseous Dysplasia
Camptodactyly of toe, Camptodactyly of finger, Syndactyly, Short toe, Abnormal hand bone ossifica... OMIM:300244
Ring Chromosome 21 Syndrome
Narrow palm, Syndactyly, Holoprosencephaly, Microcephaly, Small hand, Clinodactyly ORPHA:1445
Nephrotic Syndrome, Type 14
Cryptorchidism, Micropenis, Hypogonadism, Hypertriglyceridemia, Hyperpigmentation of the skin, Hy... OMIM:617575
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, White forelock, ... ORPHA:895
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia OMIM:619658
Boomerang Dysplasia
Abnormality of the humerus, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Abnormal morphol... ORPHA:1263
Orofaciodigital Syndrome Xvii
Polydactyly, Clubbing of fingers, Partial duplication of thumb phalanx, Short middle phalanx of t... OMIM:617926
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Secondary microcephaly, Cerebellar hypoplasia, Microphthalmia OMIM:613730
Neu-Laxova Syndrome 1
Short umbilical cord, Camptodactyly, Primary microcephaly, Hydranencephaly, Calcaneovalgus deform... OMIM:256520
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
3Q29 Microduplication Syndrome
Macrocephaly, Biparietal narrowing, Camptodactyly of toe, Microphthalmia, Toe syndactyly, Aniridi... ORPHA:251038
Congenital Muscular Dystrophy With Cerebellar Involvement
Type II lissencephaly, Polymicrogyria, Diffuse white matter abnormalities, Hydrocephalus, Olivopo... ORPHA:370959
Macrocephaly, Agenesis of cerebellar vermis, Polydactyly, Hydrocephalus, Finger syndactyly, Septo... ORPHA:59315
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis ORPHA:94090
Martsolf Syndrome 1
Cardiac arrest, Periventricular white matter hyperintensities, Osteopathia striata, Slender ulna,... OMIM:212720
Monosomy 18P
Hypertension, Holoprosencephaly, Microphthalmia, Microcephaly, Brachydactyly ORPHA:1598
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Absent radius, Aplasia/Hypoplasia of the thumb, Microphthalmia, Aplasia of the 1st metacarpal, Mi... ORPHA:1352
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism ORPHA:2786
Warburg Micro Syndrome 2
Polymicrogyria, Clinodactyly of the 5th toe, Global brain atrophy, Secondary microcephaly, Overla... OMIM:614225
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Cerebral cortical atrophy, Microphthalmia ORPHA:48431
Craniofrontonasal Dysplasia
Congenital pseudoarthrosis of the clavicle, Down-sloping shoulders, Camptodactyly of finger, Hand... ORPHA:1520
Triokinase And Fmn Cyclase Deficiency Syndrome
Reduced systolic function, Dilated cardiomyopathy, Cerebellar hypoplasia, Microphthalmia OMIM:618805
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Joubert Syndrome 33
Macrocephaly, Syndactyly OMIM:617767
Bardet-Biedl Syndrome 3
Brachydactyly, Tricuspid regurgitation, Postaxial polydactyly OMIM:600151
Limb Body Wall Complex
Encephalocele, Short umbilical cord, Duplication of hand bones, Aplasia/hypoplasia involving bone... ORPHA:2369
Holt-Oram Syndrome
Down-sloping shoulders, Abnormality of the humerus, Paroxysmal atrial fibrillation, Absent thumb,... ORPHA:392
Intellectual Developmental Disorder, Autosomal Dominant 36
Hip dysplasia, Postaxial polydactyly, Hydrocephalus, Deviation of the 5th finger, Microcephaly, B... OMIM:616362
3P25.3 Microdeletion Syndrome
Congenital pseudoarthrosis of the clavicle, 2-3 finger syndactyly, Pulmonic stenosis, Proximal pl... ORPHA:435638
Encephalocele, Pericallosal lipoma, Camptodactyly of finger, Microphthalmia, Finger clinodactyly,... ORPHA:391474
Neurooculocardiogenitourinary Syndrome
Secondary microcephaly, Abnormality of the palmar creases, Microphthalmia, Tricuspid regurgitation OMIM:618652
Joubert Syndrome 7
Encephalocele, Abnormal corpus callosum morphology, Postaxial polydactyly, Postaxial hand polydac... OMIM:611560
Microphthalmia, Syndromic 5
Anophthalmia, Microphthalmia, Optic nerve hypoplasia OMIM:610125
Baraitser-Winter Syndrome 2
Secondary microcephaly, Microphthalmia, Pachygyria, Lissencephaly, Agenesis of corpus callosum OMIM:614583
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Macrocephaly, Type II lissencephaly, Polymicrogyria, Partial agenesis of the corpu... OMIM:614643
Acute Adrenal Insufficiency
Hyperuricemia, Increased circulating renin level, Vitiligo, Sparse axillary hair, Hyperkalemia, H... ORPHA:95409
Spina bifida, Sirenomelia, Aplasia/Hypoplasia of the radius ORPHA:3169
Ritscher-Schinzel Syndrome 3
Relative macrocephaly, Microphthalmia, Shortening of all distal phalanges of the fingers, Ulnar b... OMIM:619135
Endove Syndrome, Limb-Only Type
3-4 finger syndactyly, Triangular tibia, Umbilical hernia, Disproportionate shortening of the tib... OMIM:619217
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Melanin pigment aggrega... OMIM:256710
Congenital Rubella Syndrome