Gene Summary

Name:
actin, gamma, cytoplasmic 1
Synonyms:
Actl,  E51

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
microcephaly Actg1tm1.1(KOMP)Vlcg HET E15.5 0.00
syndactyly Actg1tm1.1(KOMP)Vlcg HOM E15.5 0.00
spina bifida Actg1tm1.1(KOMP)Vlcg HOM E15.5 0.00
preweaning lethality, incomplete penetrance Actg1tm1.1(KOMP)Vlcg HOM   Early adult 0.00
hemorrhage Actg1tm1.1(KOMP)Vlcg HOM E15.5 0.00
pallor Actg1tm1.1(KOMP)Vlcg HOM E12.5 0.00
anophthalmia Actg1tm1.1(KOMP)Vlcg HET E15.5 0.00
spina bifida Actg1tm1.1(KOMP)Vlcg HET E15.5 0.00
polydactyly Actg1tm1.1(KOMP)Vlcg HOM E15.5 0.00
microphthalmia Actg1tm1.1(KOMP)Vlcg HOM E15.5 0.00
microphthalmia Actg1tm1.1(KOMP)Vlcg HET E15.5 0.00
polydactyly Actg1tm1.1(KOMP)Vlcg HET E15.5 0.00
microcephaly Actg1tm1.1(KOMP)Vlcg HOM E15.5 0.00
syndactyly Actg1tm1.1(KOMP)Vlcg HET E15.5 0.00
embryonic growth retardation Actg1tm1.1(KOMP)Vlcg HOM E12.5 0.00
hemorrhage Actg1tm1.1(KOMP)Vlcg HET E15.5 0.00
anophthalmia Actg1tm1.1(KOMP)Vlcg HOM E15.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 50% (1 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Blood  Section images heterozygote 100% (2 of 2)
Bone marrow  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 50% (1 of 2)
Cecum  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Diaphragm  Section images heterozygote 100% (2 of 2)
Duodenum  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 50% (1 of 2)
Gonadal fat pad  Section images heterozygote 50% (1 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Jejunum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 50% (1 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Mesenteric adipose tissue  Section images heterozygote 50% (1 of 2)
Mesenteric lymph node  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 50% (1 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 50% (1 of 2)
Parathyroid gland  Section images heterozygote 50% (1 of 2)
Parotid gland  Section images heterozygote 50% (1 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Quadriceps  Section images heterozygote 100% (2 of 2)
Sciatic nerve  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Sublingual gland  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Oviduct N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 100% (2 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Vagina N/A heterozygote Not available
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

141 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Actg1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Actg1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Actg1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Gombo Syndrome
Microphthalmia, Radial deviation of finger, Microcephaly, Brachydactyly, Clinodactyly OMIM:233270
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl... OMIM:174500
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Synpolydactyly 1
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... OMIM:186000
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absence of acoustic reflex, Absent brainstem auditory responses OMIM:601071
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
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
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Abnormal vestibular function, Absent brainstem audit... OMIM:616515
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
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
Congenital Varicella Syndrome
Microphthalmia, Micromelia, Microcephaly, Cerebral cortical atrophy, Intrauterine growth retardation ORPHA:291
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
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Microphthalmia, Microcephaly, Agenesis of corpus callosum, Intrauterine growt... OMIM:616570
Microphthalmia, Isolated 4
Postaxial polydactyly, Microphthalmia OMIM:613094
Brachydactyly Type A7
Finger symphalangism, Short middle phalanx of the 5th toe, Clinodactyly of the 5th finger, Sandal... ORPHA:93397
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
Syndactyly Type 3
Finger syndactyly, Camptodactyly of finger, Short toe ORPHA:93404
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Microcephaly, Cutaneous finger syndactyly, Short stature, Syndactyly, Aplasia/Hypoplasia of toe, ... OMIM:600384
Wahab Syndrome
Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,... OMIM:615170
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
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P... OMIM:618167
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
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
Microphthalmia With Limb Anomalies
Microphthalmia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Fibular hy... OMIM:206920
Aplasia Cutis Congenita
Skin ulcer, Finger syndactyly, Toe syndactyly, Spinal dysraphism, Erythema ORPHA:1114
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
Liebenberg Syndrome
Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia... OMIM:186550
15Q11Q13 Microduplication Syndrome
Short stature, Macrocephaly, Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Microcephaly, Short stature, Radioulnar synost... ORPHA:3268
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
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
Joubert Syndrome 22
Hypoplasia of the corpus callosum, Microphthalmia, 2-3 toe syndactyly, Postaxial hand polydactyly... OMIM:615665
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
Craniotelencephalic Dysplasia
Microphthalmia, Hydrocephalus, Septo-optic dysplasia, Microcephaly, Agenesis of corpus callosum, ... ORPHA:1528
Chromosome 2Q31.1 Duplication Syndrome
Triphalangeal thumb, Short stature, Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, T... OMIM:613681
Biemond Syndrome Type 2
Delayed puberty, Preaxial polydactyly, Microphthalmia, Hydrocephalus, Short stature ORPHA:141333
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
Meckel Syndrome, Type 2
Polydactyly, Microphthalmia, Anencephaly, Encephalocele, Meningocele, Dandy-Walker malformation, ... OMIM:603194
Aphalangy-Syndactyly-Microcephaly Syndrome
Abnormal metacarpal morphology, Microcephaly, Split foot, Short stature, Aplasia/Hypoplasia of th... ORPHA:1113
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Upper limb phocomelia, Abnormal hip bone morphology, Syndactyly ORPHA:294975
Fanconi Anemia, Complementation Group G
Microcephaly, Abnormal thumb morphology, Microphthalmia, Growth delay OMIM:614082
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly OMIM:615983
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Microphthalmia, Anencephaly, Encephalocele, Meningocele, Hydro... OMIM:611134
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Short stature, Syndactyly, Brachydactyly, Clinodactyly OMIM:610023
Split-Hand/Foot Malformation 6
Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly OMIM:225300
Seckel Syndrome 2
Microphthalmia, Clinodactyly of the 5th finger, Microcephaly, Short stature, Growth delay, Basal ... OMIM:606744
Syndactyly, Type V
Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas... OMIM:186300
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... OMIM:610713
Abcd Syndrome
Large for gestational age, Aganglionic megacolon, Total intestinal aganglionosis, Abnormal audito... OMIM:600501
Feingold Syndrome 2
Secondary microcephaly, Postnatal growth retardation, 2-3 toe syndactyly, Short middle phalanx of... OMIM:614326
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Foot oligodactyly, Syn... OMIM:183600
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Microphthalmia, Microcephaly, Hypoplasia of the pons, Short stature, Simplified... OMIM:616171
Acute Peripheral Arterial Occlusion
Myocardial infarction, Supraventricular tachycardia, Abnormal capillary physiology, Abnormality o... ORPHA:90064
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Deafness, Autosomal Dominant 20
Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:604717
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Bilateral microphthalmos, Prominent protruding coccyx, Hydranenc... ORPHA:2839
Meckel Syndrome, Type 5
Occipital encephalocele, Microphthalmia, Anencephaly, Postaxial hand polydactyly, Bowing of the l... OMIM:611561
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Lisse... OMIM:218670
Camptodactyly Syndrome, Guadalajara Type 1
Cubitus valgus, Scapular winging, Spina bifida, Microcephaly, Short stature, Camptodactyly of fin... ORPHA:1327
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Hypoplasia of the corpus callosum, Macrocephaly, Spindle-shaped finger, Genu va... ORPHA:166024
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
Ravine Syndrome
Failure to thrive, Decreased body weight, Abnormal auditory evoked potentials ORPHA:99852
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
Feingold Syndrome Type 2
Microcephaly, Short stature, Short middle phalanx of finger, Short thumb, Brachydactyly, Toe synd... ORPHA:391646
Lissencephaly 8
Hypoplasia of the corpus callosum, Occipital encephalocele, Microphthalmia, Polymicrogyria, Type ... OMIM:617255
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Microphthalmia, Megalencephaly, Cavum septum pellucidum, Hydrocephalus, Polymicrogyr... OMIM:602501
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Macrocephaly, Rhizomelia, Hydrocephalus, Hypoplastic iliac wing, Metaphyseal cupp... OMIM:300863
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Polydactyly, Postaxial, Type A8
Short stature, Genu valgum, Postaxial polydactyly OMIM:618123
2Q24 Microdeletion Syndrome
Microphthalmia, Growth delay, Bullet-shaped distal phalanx of the hallux, Hand clenching, Camptod... ORPHA:1617
Brachydactyly Type B
Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy... ORPHA:93383
Hartsfield Syndrome
Microphthalmia, Encephalocele, Split hand, Lobar holoprosencephaly, Aplasia/Hypoplasia of the rad... ORPHA:2117
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Short thumb, Microphthalmia, Intrauterine growth retardation OMIM:609054
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, Short stature, Agenesis... OMIM:182230
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Slender di... OMIM:603546
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Schisis Association
Anencephaly, Encephalocele, Micromelia, Microcephaly, Spina bifida ORPHA:63862
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... ORPHA:320401
Brachydactyly Type B2
Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang... ORPHA:140908
Bardet-Biedl Syndrome 22
Microcephaly, Polydactyly, Macrocephaly, Postaxial foot polydactyly OMIM:617119
Microphthalmia, Syndromic 8
Microcephaly, Split foot, Microphthalmia, Premature skin wrinkling OMIM:601349
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger OMIM:313350
Cofs Syndrome
Microphthalmia, Cerebral calcification, Microcephaly, Cerebral cortical atrophy, Short stature, C... ORPHA:1466
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Aplasia/Hypoplasia of the thumb, Finger s... ORPHA:1908
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcephaly, Microphthalmia, Short stature, Growth delay ORPHA:2528
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
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
Xeroderma Pigmentosum, Complementation Group G
Microcephaly, Microphthalmia, Growth delay OMIM:278780
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
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Macrocephaly, Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Fountain Syndrome
Macrocephaly, Abnormal metacarpal morphology, Spina bifida occulta, Spina bifida, Short stature, ... ORPHA:3219
Temtamy Syndrome
Microphthalmia, Macrocephaly, Clinodactyly of the 5th finger, Short toe, Brachydactyly, Aplasia/H... ORPHA:1777
Dihydropyrimidine Dehydrogenase Deficiency
Cerebral atrophy, Microphthalmia, Microcephaly, Growth delay, Agenesis of corpus callosum OMIM:274270
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
Femur-Fibula-Ulna Complex
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Short stature, Humeroradial... ORPHA:2019
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Osseous finger syndactyly, 3-4 finger cutaneous syndactyly, Triangular shaped distal phalanx of t... ORPHA:370010
Carpenter Syndrome
Polydactyly, Genu valgum, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly,... ORPHA:65759
Aminopterin Syndrome Sine Aminopterin
Megalencephaly, Macrocephaly, Microcephaly, Short stature, Arachnodactyly, Rudimentary postaxial ... OMIM:600325
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Triphalangeal thumb, Proxi... ORPHA:1120
Greig Cephalopolysyndactyly Syndrome
Broad thumb, Syndactyly, Umbilical hernia, Hydrocephalus, Postaxial hand polydactyly, Broad hallu... OMIM:175700
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia, Rhizomelia, Hydrocephalus, Hypoplastic iliac wing, Abnormality of the calcaneus, ... ORPHA:163966
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Microphthalmia, Optic nerve hypoplasia, Microcephaly, Short stature, Ab... OMIM:609053
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
Nanophthalmos
Microphthalmia ORPHA:35612
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
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
Walker-Warburg Syndrome
Microphthalmia, Abnormal cortical gyration, Macrocephaly, Lissencephaly, Hydrocephalus, Dandy-Wal... ORPHA:899
Linear Skin Defects With Multiple Congenital Anomalies 2
Hypoplasia of the corpus callosum, Microphthalmia, Sandal gap, Pulmonary arterial hypertension, M... OMIM:300887
Neu-Laxova Syndrome 2
Rocker bottom foot, Finger syndactyly, Spina bifida, Microcephaly, Toe syndactyly, Cerebellar hyp... OMIM:616038
Isolated Split Hand-Split Foot Malformation
Aniridia, Finger syndactyly, Oligodactyly, Split hand, Absent hand ORPHA:2440
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv... ORPHA:60041
17Q12 Microduplication Syndrome
Finger syndactyly, Cortical dysplasia, Microphthalmia, Toe syndactyly ORPHA:261272
Pelvis-Shoulder Dysplasia
Microphthalmia, Clinodactyly of the 5th finger, Spina bifida occulta, Short clavicles, Hypoplasti... OMIM:169550
Hypomelanosis Of Ito
Cerebral atrophy, Radial deviation of finger, Macrocephaly, Microcephaly, Hand polydactyly, Synda... OMIM:300337
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
Warburg Micro Syndrome 1
Cerebral atrophy, Hypoplasia of the corpus callosum, Microphthalmia, Cerebellar vermis hypoplasia... OMIM:600118
Brachydactyly, Type B2
Aplasia/Hypoplasia of the distal phalanges of the hand, Tarsal synostosis, Distal symphalangism o... OMIM:611377
Nanophthalmos 4
Microphthalmia OMIM:615972
Anemia, Congenital Dyserythropoietic, Type Ib
Growth delay, Pallor, Syndactyly, Short stature OMIM:615631
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
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
Monosomy 5P
Finger syndactyly, Microcephaly, Short stature, Intrauterine growth retardation, Small hand ORPHA:281
Microphthalmia With Limb Anomalies
Bilateral single transverse palmar creases, Microphthalmia, Sandal gap, Abnormality of the upper ... ORPHA:1106
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morpho... ORPHA:2378
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cerebral atrophy, Microphthalmia, Microcephaly, Short stature, Simplified gyral pattern, Pachygyr... OMIM:251270
Orofaciodigital Syndrome Xviii
Preaxial polydactyly, Genu valgum, Sandal gap, Single transverse palmar crease, Short stature, Po... OMIM:617927
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
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia, Microcephaly, Short stature, Holoprosencephaly OMIM:147250
Trisomy 13
Bilateral single transverse palmar creases, Microphthalmia, Anophthalmia, Postaxial hand polydact... ORPHA:3378
Microphthalmia, Syndromic 13
Microcephaly, Microphthalmia, Short stature OMIM:300915
Fanconi Anemia, Complementation Group R
Microphthalmia, Radial dysplasia, Hydrocephalus, Tethered cord, Microcephaly, Growth delay, Absen... OMIM:617244
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Bardet-Biedl Syndrome 4
Polydactyly, Syndactyly, Brachydactyly OMIM:615982
Cyclic Vomiting Syndrome
Microcephaly, Pallor, Cardiomyopathy, Growth delay OMIM:500007
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Gordon Syndrome
Short stature, Camptodactyly of finger, Finger syndactyly, Clinodactyly of the 5th finger ORPHA:376
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Macrocephaly, Rhizomelia, Anophthalmia, 2-3 toe syndactyly, 3-4 finger syndactyly OMIM:615877
Primary Lateral Sclerosis, Juvenile
Cerebral cortical atrophy, Pallor, Abnormal upper motor neuron morphology OMIM:606353
Curry-Jones Syndrome
Microphthalmia, Megalencephaly, Polymicrogyria, Triphalangeal hallux, Lipomyelomeningocele, Hemim... OMIM:601707
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Neuralgic Amyotrophy
Redundant neck skin, Scapular winging, Short stature, Upper limb amyotrophy, Syndactyly ORPHA:2901
Pierpont Syndrome
Short finger, Microphthalmia, Abnormal cortical gyration, Deep palmar crease, Prominent fingertip... ORPHA:487825
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Peripheral Cone Dystrophy
Pallor OMIM:609021
Joubert Syndrome 40
Postaxial polydactyly, Optic nerve hypoplasia OMIM:619582
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Cerebrooculofacioskeletal Syndrome 4
Rocker bottom foot, Adducted thumb, Bilateral microphthalmos, Flexion contracture of toe, Flared ... OMIM:610758
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Type II lissencephaly, Polymicrogyria, Hyp... OMIM:615181
Fatco Syndrome
Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli... ORPHA:2492
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
Chiari Malformation Type Ii
Syringomyelia, Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Agenesis of co... OMIM:207950
Cerebrooculofacioskeletal Syndrome 2
Rocker bottom foot, Microphthalmia, Microcephaly, Camptodactyly of finger, Growth delay, Intraute... OMIM:610756
Joubert Syndrome 18
Occipital encephalocele, Bowing of the long bones, Camptodactyly, Postaxial polydactyly, Agenesis... OMIM:614815
Craniorachischisis
Sirenomelia, Anencephaly, Bifid sternum, Myelomeningocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Cat-Eye Syndrome
Short stature, Microphthalmia, Intrauterine growth retardation, Hip dysplasia ORPHA:195
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
Pierpont Syndrome
Short finger, Microphthalmia, Deep palmar crease, Prominent fingertip pads, Microcephaly, Short s... OMIM:602342
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia, Hydrocephalus, Growth delay, Holoprosencephaly, Agenesis of corpus ... ORPHA:77298
Joubert Syndrome 16
Polydactyly, Dandy-Walker malformation, Encephalocele OMIM:614465
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
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
Retinitis Pigmentosa 51
Polydactyly, Pallor OMIM:613464
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Hydrocephalus, Dandy-Walker malformation, Type II lissencephaly, Agyria, Hypoplas... OMIM:613153
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Flexion contracture of toe, Finger joint contracture, Cerebral cortical atrophy, ... ORPHA:48431
Cerebrocostomandibular Syndrome
Clinodactyly of the 5th finger, Hydranencephaly, Meningocele, Cerebral calcification, Porencephal... ORPHA:1393
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
Nail-Patella Syndrome
Limited elbow extension, Microphakia, Clinodactyly of the 5th finger, Patellar hypoplasia, Glenoi... OMIM:161200
Familial Focal Epilepsy With Variable Foci
Polymicrogyria, Pallor, Hemimegalencephaly, Focal cortical dysplasia ORPHA:98820
Focal Dermal Hypoplasia
Microphthalmia, Hypoplasia of the iris, Finger syndactyly, Short clavicles, Split hand, Hypoplast... ORPHA:2092
Congenital Toxoplasmosis
Microphthalmia, Hydrocephalus, Cerebral calcification, Microcephaly, Intrauterine growth retardation ORPHA:858
Adams-Oliver Syndrome 2
Cerebral atrophy, Microphthalmia, Macrocephaly, Hydrocephalus, Polymicrogyria, Single transverse ... OMIM:614219
Cerebrooculonasal Syndrome
Postaxial hand polydactyly, Anophthalmia ORPHA:66625
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Patellar aplasia, Synda... OMIM:135750
Bresek Syndrome
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Postaxial hand polydactyly, Microcephaly, ... ORPHA:85284
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Cardiac arrest, Short stature, Paroxysmal atrial tachycardia, Pallor ORPHA:49827
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Microcephaly, Polydactyly, Intrauterine growth retardation, Hypoplastic ischia OMIM:616910
Mosaic Trisomy 9
Rocker bottom foot, Microphthalmia, Finger clinodactyly, Deep palmar crease, Dandy-Walker malform... ORPHA:99776
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Microphthalmia, Rhizomelia, Proximal placement of thumb, Bowing o... ORPHA:93267
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
Nephronophthisis 15
Cerebellar vermis hypoplasia, Polydactyly OMIM:614845
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Polydactyly, Postnatal growth retardation, Clinodactyly of the 5th finger, Relative macrocephaly,... ORPHA:231140
Trisomy 18
Bilateral single transverse palmar creases, Microphthalmia, Anencephaly, Abnormal hip bone morpho... ORPHA:3380
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
Microcephaly-Micromelia Syndrome
Aqueductal stenosis, Microphthalmia, Absent radius, Oligodactyly, Forearm undergrowth, Micromelia... OMIM:251230
Camptobrachydactyly
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Camptodactyly of finger, Brachydactyly, Ulnar... ORPHA:1319
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Abnormal cortical gyration, Abnormal metacarpal morphology, Anophthalmia, Abnorma... ORPHA:2538
Grange Syndrome
Short palm, Hypertension, Aortic regurgitation, Syndactyly ORPHA:79094
Mesomelic Dysplasia, Nievergelt Type
Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm... ORPHA:2633
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu... OMIM:274000
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Optic nerve hypoplasia, Microcephaly, Broad thumb, Short 5th finger, Overlapping ... ORPHA:508498
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
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
Cerebrooculonasal Syndrome
Hypoplasia of the corpus callosum, Postnatal growth retardation, Macrocephaly, Encephalocele, Ano... OMIM:605627
Spontaneous Periodic Hypothermia
Aplasia/Hypoplasia of the corpus callosum, Pallor, Arrhythmia ORPHA:29822
Al-Gazali-Bakalinova Syndrome
Hypoplasia of the corpus callosum, Polydactyly, Macrocephaly, Genu valgum, Tapered finger, Epiphy... OMIM:607131
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Hypoplasia of the corpus callosum, Preaxial polydactyly, Bilateral talipes equinovarus, Microceph... OMIM:618142
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe, Lissencephaly, Hydrocephalus, Progressive microcephaly, T... OMIM:615249
Vacterl With Hydrocephalus
Aqueductal stenosis, Hypoplasia of the radius, Microphthalmia, Anophthalmia, Hydrocephalus, Spina... ORPHA:3412
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, EEG abnormality, Facial palsy, Absent brainstem auditory responses OMIM:617519
Joubert Syndrome 14
Hypoplasia of the corpus callosum, Microphthalmia, Encephalocele, Meningocele, Cerebellar vermis ... OMIM:614424
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Meckel Syndrome
Microphthalmia, Anencephaly, Encephalocele, Anophthalmia, Hydrocephalus, Dandy-Walker malformatio... ORPHA:564
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Res... ORPHA:88630
Basal Cell Nevus Syndrome 1
Polydactyly, Short 4th metacarpal, Microphthalmia, Macrocephaly, Palmar pits, Hydrocephalus, Calc... OMIM:109400
Myopathic Ehlers-Danlos Syndrome
Congenital bilateral hip dislocation, Shoulder flexion contracture, Elbow flexion contracture, Co... ORPHA:536516
Orofaciodigital Syndrome Viii
Short stature, Polydactyly, Short tibia, Syndactyly OMIM:300484
Sclerosteosis
Diaphyseal undertubulation, Finger syndactyly, 2-3 finger syndactyly, Curved distal phalanges of ... ORPHA:3152
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Growth delay, Pallor, Hypertrophic cardiomyopathy OMIM:613561
14Q22Q23 Microdeletion Syndrome
Bilateral single transverse palmar creases, Short 4th metacarpal, Clinodactyly of the 5th finger,... ORPHA:264200
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
Cousin Syndrome
Microphthalmia, Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypopl... OMIM:260660
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Microphthalmia, Optic nerve hypoplasia, Microlissencephaly, Sm... OMIM:617914
Caudal Duplication
Spinal cord lesion, Myelomeningocele, Spina bifida ORPHA:1756
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Sandestig-Stefanova Syndrome
Hypoplasia of the corpus callosum, Bilateral single transverse palmar creases, Rocker bottom foot... OMIM:618804
Brachydactyly, Type B1
Aplasia/Hypoplasia of the distal phalanges of the hand, Short long bone, Camptodactyly, Type B br... OMIM:113000
Adams-Oliver Syndrome
Periventricular leukomalacia, Gastrointestinal hemorrhage, Microphthalmia, Abnormal metacarpal mo... ORPHA:974
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
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Microphthalmia, Optic nerve hypoplasia, Polymicrogyria, Microcephaly,... OMIM:614833
Congenital Rubella Syndrome
Abnormal metaphysis morphology, Microphthalmia, Microcephaly, Short stature, Intrauterine growth ... ORPHA:290
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Spina bifida ORPHA:2345
Orofaciodigital Syndrome Iv
Cerebral atrophy, Short finger, Porencephalic cyst, Short stature, Foot polydactyly, Hand polydac... OMIM:258860
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Triphalangeal thumb, Finger syndactyly, Camptodactyly of finger, Severe short stature, Short thum... ORPHA:2251
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
Neu-Laxova Syndrome 1
Rocker bottom foot, Microphthalmia, Radial deviation of finger, Intrauterine growth retardation, ... OMIM:256520
Camptobrachydactyly
Congenital finger flexion contractures, Hand polydactyly, Short toe, Syndactyly, Brachydactyly OMIM:114150
Diabetic Embryopathy
Hydrocephalus, Microcephaly, Aplasia/Hypoplasia affecting the eye, Spinal dysraphism, Aplasia/Hyp... ORPHA:1926
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Hypoplasia of the ulna, Microphthalmia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the... ORPHA:1352
Bardet-Biedl Syndrome 16
Short stature, Polydactyly OMIM:615993
Boomerang Dysplasia
Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Finger synd... ORPHA:1263
Temtamy Preaxial Brachydactyly Syndrome
Radial deviation of finger, Clinodactyly of the 2nd finger, Complete duplication of the middle ph... ORPHA:363417
Breath-Holding Spells
Pallor OMIM:607578
Neurooculocardiogenitourinary Syndrome
Secondary microcephaly, Redundant neck skin, Microphthalmia, Abnormality of the palmar creases, T... OMIM:618652
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Anophthalmia, Tricuspid regurgitation, Camptodactyly of finger, Umbilical hernia, Ulnar... ORPHA:1101
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Hypertrophic cardiomyopathy, Syncope, Palpitations, Pallor ORPHA:276556
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
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Orofaciodigital Syndrome Xvii
Polydactyly, Clubbing of fingers, Central Y-shaped metacarpal, Short stature, Partial duplication... OMIM:617926
Hb Bart'S Hydrops Fetalis
Hydrocephalus, Congestive heart failure, Pallor, Pericarditis ORPHA:163596
Evans Syndrome
Petechiae, Pallor, Epistaxis, Syncope ORPHA:1959
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Abnormal cranial nerve morphology, Fa... OMIM:601596
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Delayed puberty, Abnormal thumb morphology, Abnormality of the wrist, Proximal placement of thumb... ORPHA:1825
Bartsocas-Papas Syndrome 2
2-5 finger cutaneous syndactyly, Absent distal phalanges, Microphthalmia, Small hand OMIM:619339
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Ring Chromosome 21 Syndrome
Narrow palm, Microcephaly, Short stature, Holoprosencephaly, Syndactyly, Clinodactyly, Small hand ORPHA:1445
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Delayed puberty, Triphalangeal thumb, Finger syndactyly, Microcephaly, Arachnodactyly, Short stat... ORPHA:2994
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Neu-Laxova Syndrome
Abnormal cortical gyration, Lissencephaly, Cerebral calcification, Dandy-Walker malformation, Pol... ORPHA:2671
Microphthalmia, Syndromic 5
Short stature, Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610125
Temtamy Syndrome
Microphthalmia, Aortic regurgitation, Short 2nd toe, Agenesis of corpus callosum, Brachydactyly, ... OMIM:218340
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Agenesis of corpus callosum, Lissencephaly ORPHA:99742
Garg-Mishra Progeroid Syndrome
Secondary microcephaly, Postnatal growth retardation, Microphthalmia, Slender long bone, Short st... OMIM:620601
Charlie M Syndrome
Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndactyly, Split hand, Brachydactyly ORPHA:1406
Silver-Russell Syndrome Due To A Point Mutation
Postnatal growth retardation, Polydactyly, Small placenta, Clinodactyly of the 5th finger, Relati... ORPHA:397590
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Tachycardia, Hypertrophic cardiomyopathy, Syncope, Palpitations, Pallor ORPHA:276575
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
Hallermann-Streiff Syndrome
Abnormality of the hand, Microphthalmia, Slender long bone, Hypertension, Dry skin, Pulmonary art... OMIM:234100
Filippi Syndrome
Postnatal growth retardation, Finger clinodactyly, Single transverse palmar crease, Microcephaly,... OMIM:272440
Weaver Syndrome
Abnormal metaphysis morphology, Macrocephaly, Sandal gap, Finger syndactyly, Redundant skin, Broa... ORPHA:3447
Kcnq2-Related Epileptic Encephalopathy
Cerebral atrophy, Hypoplasia of the corpus callosum, Facial erythema, Cerebral edema, Abnormal ce... ORPHA:439218
1Q21.1 Microdeletion Syndrome
Microphthalmia, Clinodactyly of the 5th finger, Hydrocephalus, Microcephaly, Short stature, Broad... ORPHA:250989
Acrofrontofacionasal Dysostosis 2
Redundant neck skin, Microcephaly, Broad thumb, Short stature, Hand polydactyly, Broad hallux, Sy... OMIM:239710
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Hypertrophic cardiomyopathy, Syncope, Palpitations, Pallor ORPHA:276580
Cerebrooculofacioskeletal Syndrome 1
Rocker bottom foot, Microphthalmia, Second metatarsal posteriorly placed, Elbow flexion contractu... OMIM:214150
Focal Dermal Hypoplasia
Microphthalmia, Aniridia, Short metacarpal, Myelomeningocele, Microcephaly, Split foot, Umbilical... OMIM:305600
Bardet-Biedl Syndrome 19
Hypoplasia of the corpus callosum, Y-shaped metacarpals, Postaxial polydactyly, Mesoaxial hand po... OMIM:615996
Baraitser-Winter Syndrome 2
Secondary microcephaly, Microphthalmia, Short stature, Pachygyria, Agenesis of corpus callosum, L... OMIM:614583
Martsolf Syndrome 1
Periventricular white matter hyperintensities, Congestive heart failure, Microphthalmia, Slender ... OMIM:212720
Monosomy 18P
Microphthalmia, Hypertension, Microcephaly, Short stature, Holoprosencephaly, Brachydactyly ORPHA:1598
Joubert Syndrome 23
Dysplastic corpus callosum, Polydactyly OMIM:616490
Warburg Micro Syndrome 2
Secondary microcephaly, Hypoplasia of the corpus callosum, Global brain atrophy, Postnatal growth... OMIM:614225
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Microphthalmia, Tapered finger, Sandal gap ORPHA:1438
Non-Functioning Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... ORPHA:94080
Optic Atrophy 1
Pallor OMIM:165500
Holoprosencephaly
Spinal cord tumor, Microphthalmia, Macrocephaly, Encephalocele, Anophthalmia, Hydrocephalus, Dand... ORPHA:2162
Cutis Laxa, Autosomal Recessive, Type Iie
Deep palmar crease, Clinodactyly of the 5th finger, Cutis laxa, Short stature, Syndactyly, Brachy... OMIM:619451
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
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pallor ORPHA:276608
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
6P22 Microdeletion Syndrome
Hydrocephalus, Redundant skin, Finger syndactyly, Clinodactyly ORPHA:251046
3Q29 Microduplication Syndrome
Microphthalmia, Macrocephaly, Aniridia, Sandal gap, Biparietal narrowing, Microcephaly, Camptodac... ORPHA:251038
Ritscher-Schinzel Syndrome 3
Postnatal growth retardation, Hypoplasia of the ulna, Microphthalmia, Short first metatarsal, Uln... OMIM:619135
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Purpura, Clinodactyly of the 5th finger, Ulnar bowing, Petechiae, Proximal radio-ulnar synostosis... OMIM:605432
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