Gene Summary

Name:
fibroblast growth factor 8
Synonyms:
Aigf,  Fgf-8

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
preweaning lethality, complete penetrance Fgf8tm1b(KOMP)Wtsi HOM   Early adult 0.00
embryonic lethality prior to tooth bud stage Fgf8tm1b(KOMP)Wtsi HOM   E12.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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Select physiological systems to view:
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
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 50% (1 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote Ambiguous
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
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%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
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%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
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.

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

Adult LacZ

LacZ Images Wholemount

5 Images

Echo

M-Mode Images

40 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Fgf8 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 predicted to be associated to Fgf8 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Synpolydactyly 1
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... OMIM:186000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl... OMIM:174500
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger symphalangism, Reduced proximal interphalangeal joint space, Short distal phalanx of hallu... ORPHA:3246
Syndactyly, Type Iii
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Toe syndactyly, Short 5th finger, 3-4... OMIM:186100
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI, Spindle-shaped finger, Genu valgum, Delayed epiphyseal ossification, Age... ORPHA:166024
Syndactyly Type 1
Toe syndactyly, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, 3-4 finger... ORPHA:93402
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Septopreoptic Holoprosencephaly
Central diabetes insipidus, Anterior hypopituitarism, Ethmoidal encephalocele, Rhombencephalosyna... ORPHA:280195
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Severe short stature, Acrocyanosis OMIM:302000
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Stillbirth, Abnormal hip bone morphology, Abnormal heart morphology, Upper limb phoc... ORPHA:294975
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor... ORPHA:1891
Leptin Receptor Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism,... OMIM:614963
Joubert Syndrome 18
Occipital encephalocele, Molar tooth sign on MRI, Bowing of the long bones, Camptodactyly, Postax... OMIM:614815
Triphalangeal Thumb With Polysyndactyly
Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po... OMIM:190605
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly OMIM:234280
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Postaxial hand polydactyly, Duplication of... OMIM:617127
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Postaxial hand polydactyly, Agenesis of corp... OMIM:614120
Meckel Syndrome, Type 4
Molar tooth sign on MRI, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker mal... OMIM:611134
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Joubert Syndrome 36
Mesoaxial hand polydactyly, Molar tooth sign on MRI OMIM:618763
Syndactyly, Type Iv
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... OMIM:186200
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Postaxial hand polydactyly, Syndactyly OMIM:615938
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Broa... OMIM:174200
Joubert Syndrome 22
Molar tooth sign on MRI, 2-3 toe syndactyly, Postaxial hand polydactyly, Agenesis of cerebellar v... OMIM:615665
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Syndactyly Type 5
Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge... ORPHA:93406
Wahab Syndrome
Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,... OMIM:615170
Joubert Syndrome 16
Polydactyly, Dandy-Walker malformation, Molar tooth sign on MRI, Encephalocele OMIM:614465
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Joubert Syndrome 30
Molar tooth sign on MRI, Dandy-Walker malformation, Cerebellar atrophy, Postaxial hand polydactyl... OMIM:617622
Duplication Of The Pituitary Gland
Encephalocele, Abnormal pituitary gland morphology, Abnormal midbrain morphology, Abnormal hypoth... ORPHA:314621
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis ORPHA:71289
Meckel Syndrome, Type 10
Occipital encephalocele, Molar tooth sign on MRI, Anencephaly, Dandy-Walker malformation, Postaxi... OMIM:614175
Camptosynpolydactyly, Complex
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly OMIM:607539
Slc35A2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Abnormality of the hand, Hip subl... ORPHA:356961
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Rocker bottom foot, Cerebellar hypoplasia, Hypoplasia of the brainstem, Decreased thalamic volume OMIM:619072
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Meckel Syndrome 13
Cerebellar hypoplasia, Molar tooth sign on MRI, Occipital encephalocele OMIM:617562
Joubert Syndrome 32
Molar tooth sign on MRI, Postaxial hand polydactyly, Hypertrophic cardiomyopathy, Abnormal cerebe... OMIM:617757
Syndactyly Type 3
Finger syndactyly, Camptodactyly of finger, Short toe ORPHA:93404
20Q11.2 Microdeletion Syndrome
Brainstem dysplasia, Camptodactyly, Brachydactyly, Intrauterine growth retardation, Adducted thum... ORPHA:444051
Congenital Heart Block
Peripheral edema, Hydrops fetalis, Pleural effusion, Pericardial effusion, Patent ductus arterios... ORPHA:60041
Crossed Polysyndactyly
Finger syndactyly, Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb ORPHA:2935
Greig Cephalopolysyndactyly Syndrome
Broad thumb, Abnormal heart morphology, Syndactyly, Umbilical hernia, Hydrocephalus, Postaxial ha... OMIM:175700
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s... ORPHA:157801
Craniopharyngioma
Delayed puberty, Central diabetes insipidus, Enlarged pituitary gland, Hydrocephalus, Pituitary h... ORPHA:54595
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect, Anencephaly, Spina bifida ORPHA:2476
Joubert Syndrome 25
Cerebellar hypoplasia, Molar tooth sign on MRI OMIM:616781
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ... OMIM:605289
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Aplas... OMIM:609432
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Midline brainstem cleft, Hydrocephalus, Fusion of the left and right thalami, Hypoplasia of the p... OMIM:617542
Joubert Syndrome 7
Molar tooth sign on MRI, Genu valgum, Encephalocele, Brainstem dysplasia, Postaxial hand polydact... OMIM:611560
Pallister-Hall-Like Syndrome
Occipital encephalocele, Chiari type I malformation, Anterior hypopituitarism, Hydrocephalus, Hyp... OMIM:241800
Joubert Syndrome 20
Postaxial polydactyly, Molar tooth sign on MRI, 4-5 toe syndactyly OMIM:614970
Pituicytoma
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... ORPHA:251623
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites, Growth delay, Cyanosis ORPHA:2414
Branchiogenic-Deafness Syndrome
Branchial fistula, Branchial cyst OMIM:609166
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Bardet-Biedl Syndrome 5
Polydactyly, Brachydactyly, Syndactyly, Hypogonadism OMIM:615983
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Brachydactyly, Aplasia of the middle phalanx of the hand, Dilated cardiomyopathy, Cli... OMIM:610140
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Hydrocephalus, Abnormal brainstem m... ORPHA:1532
Acropectorovertebral Dysplasia
Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpal bones, Radial deviation of th... OMIM:102510
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Broad hallux phalanx, ... ORPHA:380
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Foot oligodactyly, Syn... OMIM:183600
Al-Gazali-Bakalinova Syndrome
Polydactyly, Molar tooth sign on MRI, Genu valgum, Epiphyseal dysplasia, Clinodactyly, Agenesis o... OMIM:607131
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Dextrocardia, Interhypothalamic adhesion, Agenesis of corpus callo... OMIM:618929
Orofaciodigital Syndrome Vi
Fibular aplasia, Molar tooth sign on MRI, Radial deviation of finger, Cerebellar vermis hypoplasi... OMIM:277170
X-Linked Mandibulofacial Dysostosis
Pulmonic stenosis, Branchial anomaly, Abnormal mitral valve morphology, Webbed neck ORPHA:1131
Joubert Syndrome 15
Molar tooth sign on MRI, Exencephaly, Preaxial polydactyly OMIM:614464
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Liebenberg Syndrome
Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia... OMIM:186550
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands OMIM:185900
Joubert Syndrome 33
Molar tooth sign on MRI, Syndactyly OMIM:617767
15Q11Q13 Microduplication Syndrome
Finger syndactyly, Clinodactyly of the 5th finger ORPHA:238446
Joubert Syndrome 4
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Thickened superior cerebellar peduncle, El... OMIM:609583
Dystonia 30
Hypothalamic hamartoma OMIM:619291
Perching Syndrome
Cyanosis OMIM:617055
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the elbow, Clinodactyly of the 5th finger, Radioulnar synostosis ORPHA:3268
Ectrodactyly-Polydactyly Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp... ORPHA:1892
Joubert Syndrome 40
Postaxial polydactyly, Molar tooth sign on MRI OMIM:619582
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, 2-4 toe syndactyly, Syndactyly OMIM:241000
Syndactyly, Type V
Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas... OMIM:186300
Verheij Syndrome
Truncus arteriosus, Intrauterine growth retardation, Short neck, Ventricular septal defect, Branc... OMIM:615583
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse, Spina bifida OMIM:211960
Amoebiasis Due To Free-Living Amoebae
Abnormality of the adrenal glands, Abnormal brainstem MRI signal intensity, Myocardial necrosis, ... ORPHA:68
Coach Syndrome 2
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Molar tooth sign on MRI, Hydrocephalus OMIM:619111
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy OMIM:610992
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Joubert Syndrome 39
Occipital encephalocele, Molar tooth sign on MRI, Joint contracture of the 5th finger, Cerebellar... OMIM:619562
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Cerebellar cyst, Abnormal brainstem morphology, Hydrocephalus, Cardiomyo... ORPHA:370959
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Split-Hand/Foot Malformation 6
Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly OMIM:225300
Carpenter Syndrome
Polydactyly, Genu valgum, Patent ductus arteriosus, Finger syndactyly, Postaxial hand polydactyly... ORPHA:65759
Neuralgic Amyotrophy
Short stature, Redundant neck skin, Acrocyanosis ORPHA:2901
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Camptodactyly of finger, Abnormality of the diencephalon, Holoprosencephaly, Int... ORPHA:2570
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... OMIM:610713
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Abnormal thalamus morphology, Hypoplasia of the pons, Abnormal brai... ORPHA:467166
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones OMIM:600384
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Hypoplasia of the brainstem, Decreased thalamic volume OMIM:613668
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Rhizomelic leg shortening, Dysgenesis of the cerebellar vermis, Colpocep... ORPHA:397715
Joubert Syndrome 10
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Postaxial hand polydactyly, Brachydactyly,... OMIM:300804
Santos Syndrome
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... OMIM:613005
Brachydactyly Type B
Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy... ORPHA:93383
Joubert Syndrome 14
Molar tooth sign on MRI, Encephalocele, Meningocele, Cerebellar vermis hypoplasia, Dandy-Walker m... OMIM:614424
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Wildervanck Syndrome
Short neck, Low posterior hairline, Webbed neck, Meningocele ORPHA:3456
Thoraco-Abdominal Enteric Duplication
Abnormal tricuspid valve morphology, Dextrocardia, Meningocele ORPHA:1759
Boomerang Dysplasia
Decreased response to growth hormone stimulation test, Abnormal femur morphology, Abnormal tibia ... ORPHA:1263
Joubert Syndrome 17
Postaxial polydactyly, Molar tooth sign on MRI, 3-4 finger syndactyly, Preaxial polydactyly OMIM:614615
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Clinodactyly of the 5th finger, Hydranencephaly, Single transverse palmar crease, 2-3... OMIM:236500
Joubert Syndrome 3
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, La... OMIM:608629
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
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
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
Joubert Syndrome With Ocular Defect
Molar tooth sign on MRI, Dextrocardia, Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus... ORPHA:220493
Brachydactyly, Type B1
Aplasia/Hypoplasia of the distal phalanges of the hand, Short long bone, Camptodactyly, Type B br... OMIM:113000
Orofaciodigital Syndrome Type 6
Molar tooth sign on MRI, Preaxial polydactyly, Mesoaxial polydactyly, Cerebellar vermis hypoplasi... ORPHA:2754
Ritscher-Schinzel Syndrome 1
Decreased response to growth hormone stimulation test, Hydrocephalus, Dandy-Walker malformation, ... OMIM:220210
Brachydactyly Type B2
Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang... ORPHA:140908
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Joubert Syndrome 38
Decreased response to growth hormone stimulation test, Inferior cerebellar vermis hypoplasia, Mol... OMIM:619476
Gordon Syndrome
Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Clinodactyly of the 5th finger ORPHA:376
Joubert Syndrome 27
Polydactyly, Molar tooth sign on MRI OMIM:617120
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Autosomal Recessive Spastic Paraplegia Type 11
Abnormal substantia nigra morphology, Lateral ventricle dilatation, Hypothalamic atrophy ORPHA:2822
Gangliocytoma
Adrenocorticotropic hormone excess, Abnormal brainstem morphology, Abnormal pituitary gland morph... ORPHA:251937
Isolated Klippel-Feil Syndrome
Webbed neck, Congenital muscular torticollis, Low posterior hairline, Spina bifida, Short neck, V... ORPHA:2345
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Rhombencephalosynapsis, Fusion of the left... OMIM:619306
Joubert Syndrome 6
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Bi... OMIM:610688
Joubert Syndrome With Oculorenal Defect
Molar tooth sign on MRI, Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality ... ORPHA:2318
Branchiogenic Deafness Syndrome
Branchial fistula, Branchial cyst ORPHA:50815
Breath-Holding Spells
Cyanosis OMIM:607578
Tricuspid Atresia
Coarctation of aorta, Cyanosis, Pulmonary artery atresia ORPHA:1209
Pituitary Carcinoma
Enlarged pituitary gland, Pituitary gonadotropic cell adenoma, Diabetes insipidus, Increased circ... ORPHA:300385
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Stillbirth, Molar tooth sign on MRI, Fibular hypoplasia, Rhizomelia... OMIM:616300
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst ORPHA:435938
Joubert Syndrome With Renal Defect
Molar tooth sign on MRI, Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality ... ORPHA:220497
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger OMIM:313350
Joubert Syndrome 2
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Elongated superior cerebellar pedun... OMIM:608091
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Abnormality of the anterior pituitary, Posterior pituitary hypoplasia, Post... ORPHA:75389
Pallister-Hall Syndrome
Hypothalamic hamartoma, Oligodactyly, Shortening of all distal phalanges of the fingers, Decrease... OMIM:146510
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Giant Axonal Neuropathy
Genu valgum, Abnormal hand morphology, Abnormal pituitary gland morphology, Abnormal cerebellum m... ORPHA:643
Brachydactyly, Type B2
Aplasia/Hypoplasia of the distal phalanges of the hand, Tarsal synostosis, Distal symphalangism o... OMIM:611377
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Proximal Symphalangism
Tarsal synostosis, Abnormality of the wrist, Clinodactyly of the 5th finger, Abnormal metacarpal ... ORPHA:3250
Femur-Fibula-Ulna Complex
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... ORPHA:2019
Joubert Syndrome 35
Cerebellar vermis hypoplasia, Single transverse palmar crease, Molar tooth sign on MRI, Elongated... OMIM:618161
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis ORPHA:91130
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Osseous finger syndactyly, 3-4 finger cutaneous syndactyly, Triangular shaped distal phalanx of t... ORPHA:370010
Joubert Syndrome 37
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Postaxial polydactyly, Decreased testicula... OMIM:619185
Moebius Syndrome
Radial deviation of finger, Split hand, Abnormal pelvic girdle bone morphology, Camptodactyly, De... OMIM:157900
Rhombencephalosynapsis
Polydactyly, Hydrocephalus, Abnormal dentate nucleus morphology, Finger syndactyly, Fusion of the... ORPHA:59315
3P25.3 Microdeletion Syndrome
Proximal placement of thumb, Acromesomelia, Abnormal thalamus morphology, Pulmonic stenosis, Broa... ORPHA:435638
Alexander Disease Type I
Hydrocephalus, Abnormal thalamic MRI signal intensity, Cerebellar atrophy ORPHA:363717
Joubert Syndrome 9
Molar tooth sign on MRI, Encephalocele OMIM:612285
Pfeiffer Syndrome Type 1
Aqueductal stenosis, Aplasia/Hypoplasia of the thumb, Short hallux, Finger syndactyly, Broad thum... ORPHA:93258
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ... ORPHA:2141
Acropectorovertebral Dysplasia
Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of carpal bones, Spina bifi... ORPHA:957
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Aminopterin Syndrome Sine Aminopterin
Arachnodactyly, Rudimentary postaxial polydactyly of hands, Syndactyly, Brachydactyly, Umbilical ... OMIM:600325
Bardet-Biedl Syndrome 4
Polydactyly, Syndactyly, Brachydactyly, Hypogonadism, Cryptorchidism OMIM:615982
Subependymal Nodular Heterotopia
Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele, Meningocele ORPHA:101030
Cerebellofaciodental Syndrome
Genu valgum, Clinodactyly of the 5th finger, Slender long bone, Single transverse palmar crease, ... OMIM:616202
Filippi Syndrome
Finger clinodactyly, Single transverse palmar crease, Cerebellar atrophy, Cutaneous syndactyly, C... OMIM:272440
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal cerebellum morphology, Agenesis of corpus callosum, Abnormal brainstem morphology ORPHA:255182
Joubert Syndrome 31
Molar tooth sign on MRI OMIM:617761
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Molar tooth sign on MRI, Preaxial polydactyly, Anencephaly, Cerebellar vermis hypoplasia, Hydroce... OMIM:616546
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormal hip bone morphology, Abnormal brainstem morphology, Hydrocephalus, Arachnodactyly, Abnor... ORPHA:2720
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Atrioventricular canal defect, Branchial anomaly, Increased nuchal translucency, Abnormal heart m... ORPHA:453499
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Inferior cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, A... ORPHA:370022
Holt-Oram Syndrome
Atrioventricular canal defect, Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndac... ORPHA:392
Joubert Syndrome 1
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Elongated superior cerebellar pedun... OMIM:213300
Alkuraya-Kucinskas Syndrome
Overlapping fingers, Adducted thumb, Hydrocephalus, Dandy-Walker malformation, Kinked brainstem, ... OMIM:617822
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Tetralogy of Fall... ORPHA:1908
Periventricular Nodular Heterotopia 1
Short finger, Syndactyly, Patent ductus arteriosus, Bicuspid aortic valve, Cerebellar hypoplasia,... OMIM:300049
Terminal Osseous Dysplasia
Mesomelic arm shortening, Abnormal hand bone ossification, Camptodactyly of toe, Camptodactyly of... OMIM:300244
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Small pituitary gland, Bowed humeru... OMIM:619479
Cerebellar-Facial-Dental Syndrome
Inferior cerebellar vermis hypoplasia, Slender long bone, Single transverse palmar crease, Ventri... ORPHA:444072
Cach Syndrome
T2 hypointense thalamus, Cerebellar vermis atrophy, Atrophy/Degeneration affecting the brainstem,... ORPHA:135
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Cerebellar calcifications, Thalamic calcification OMIM:618824
Polymicrogyria Due To Tubb2B Mutation
Abnormal brainstem morphology, Cerebellar atrophy, Hypoplasia of the pons, Agenesis of corpus cal... ORPHA:300573
Mesomelic Dysplasia, Nievergelt Type
Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm... ORPHA:2633
47,Xyy Syndrome
Dysgenesis of the cerebellar vermis, Finger clinodactyly, Increased serum testosterone level, Abn... ORPHA:8
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Intrauterine growth retardation, Short neck, Cyanotic episode, Thickened nuchal skin fold ORPHA:284417
Meckel Syndrome, Type 2
Anencephaly, Encephalocele, Meningocele, Cystic hygroma, Intrauterine growth retardation OMIM:603194
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Pat... ORPHA:88630
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Oligodacty... ORPHA:93323
Ring Chromosome 21 Syndrome
Diabetes insipidus, Narrow palm, Abnormal heart morphology, Holoprosencephaly, Syndactyly, Clinod... ORPHA:1445
Schisis Association
Anencephaly, Encephalocele, Spina bifida ORPHA:63862
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Acrofacial Dysostosis, Rodríguez Type
Aqueductal stenosis, Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morpholog... ORPHA:1788
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morpho... ORPHA:2378
Adult Krabbe Disease
Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal pons morphology ORPHA:206448
Basal Ganglia Calcification, Idiopathic, 5
Cerebellar calcifications, Thalamic calcification OMIM:615483
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Diaphanospondylodysostosis
Short neck, Myelomeningocele ORPHA:66637
Coach Syndrome 1
Occipital encephalocele, Molar tooth sign on MRI, Encephalocele, Cerebellar vermis hypoplasia, Po... OMIM:216360
Ravine Syndrome
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Genu valgum, Abnormal cerebellar vermis morphology, Cubitus valgus... ORPHA:300570
Sclerosteosis
Diaphyseal undertubulation, Finger syndactyly, 2-3 finger syndactyly, Curved distal phalanges of ... ORPHA:3152
Bor Syndrome
Branchial cyst ORPHA:107
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Abnormal thalamus morphology, Hypoplasia of the capital femoral epiph... ORPHA:557003
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Deviation of the thumb, Short hallux, Hydrocephalus, Finger syndactyly, Broa... ORPHA:93259
High Altitude Pulmonary Edema
Hypoxemia, Cyanosis, Pulmonary edema ORPHA:330012
Monosomy 5P
Intrauterine growth retardation, Finger syndactyly, Small hand ORPHA:281
Structural Heart Defects And Renal Anomalies Syndrome
Webbed neck, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Death in infancy, Ge... OMIM:617478
Meckel Syndrome, Type 1
Occipital encephalocele, Radial deviation of finger, Anencephaly, Syndactyly, Intrauterine growth... OMIM:249000
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Chiari Malformation Type Ii
Hydrocephalus, Cervical myelopathy, Myelomeningocele, Spina bifida OMIM:207950
Japanese Encephalitis
Focal T2 hyperintense thalamic lesion, Distal upper limb muscle weakness, Abnormal thalamus morph... ORPHA:79139
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Delayed puberty, Abnormal thumb morphology, Abnormality of the wrist, Proximal placement of thumb... ORPHA:1825
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Humero-Radial Synostosis
Meningocele ORPHA:3265
Panhypophysitis
Abnormal thalamic MRI signal intensity, Central diabetes insipidus, Reduced circulating prolactin... ORPHA:95513
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Cerebellar dentate nucleus calcification, Thalamic calcification OMIM:618317
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Broad distal phalanx of finger, 2-3 toe syndactyly, Abnormal thalamus morphology, Cryptorchidism,... ORPHA:404440
Ritscher-Schinzel Syndrome 2
Clinodactyly of the 5th finger, Dandy-Walker malformation, Prominent fingertip pads, Ventricular ... OMIM:300963
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus, Syndactyly OMIM:215850
Summitt Syndrome
Short 4th metacarpal, Genu valgum, Clinodactyly of the 5th finger, Finger syndactyly, Short palm,... ORPHA:3210
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... ORPHA:300373
Pfeiffer Syndrome
3-4 toe cutaneous syndactyly, Hydrocephalus, Shortening of all middle phalanges of the fingers, F... OMIM:101600
Eosinophilic Fasciitis
Edema, Muscular edema, Acrocyanosis ORPHA:3165
6P22 Microdeletion Syndrome
Hydrocephalus, Finger syndactyly, Clinodactyly, Patent ductus arteriosus ORPHA:251046
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem morphology, Abnormal brainstem MRI signal intensity, Abnormal thalamus morphology ORPHA:88619
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Triphalangeal thumb, Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar kerato... ORPHA:2251
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Cerebellar dysplasia, Aprosencephaly, Poorly formed metencephalon, Talipes ... OMIM:601374
Non-Functioning Pituitary Adenoma
Female hypogonadism, Hypogonadism, Central adrenal insufficiency, Adrenal insufficiency, Decrease... ORPHA:91349
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Atrioventricular canal defect, Abnormal aortic valve morphology, Spina bifida, Patent ductus arte... ORPHA:1120
Branchiootorenal Syndrome 1
Branchial fistula, Branchial cyst OMIM:113650
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology ORPHA:411493
Czeizel-Losonci Syndrome
Dextrocardia, Spina bifida occulta, Hitchhiker thumb, Hydrocephalus, Single transverse palmar cre... ORPHA:2437
Primary Pulmonary Hypoplasia
Intrauterine growth retardation, Hypoxemia, Abnormal pulmonary artery morphology, Cyanosis ORPHA:2257
Charlie M Syndrome
Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndactyly, Split hand, Brachydactyly ORPHA:1406
Muscle-Eye-Brain Disease
Hydrocephalus, Holoprosencephaly, Meningocele ORPHA:588
Holoprosencephaly
Encephalocele, Hydrocephalus, Branchial anomaly, Tetralogy of Fallot, Holoprosencephaly, Short ne... ORPHA:2162
Fatco Syndrome
Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli... ORPHA:2492
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal aortic arch morphology, Hypoplastic aortic arch, Interrupted aortic arch, Hypoxemia, Coa... ORPHA:860
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Cyanosis, Pulmonary edema ORPHA:70587
Combined Oxidative Phosphorylation Deficiency 51
Intrauterine growth retardation, Focal T2 hyperintense thalamic lesion OMIM:619057
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Spinal dysraphism ORPHA:1114
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Clinodactyly, Syndactyly, Brachydactyly OMIM:610023
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Polydactyly, Ventricular septal defect, Syndactyly OMIM:602501
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity, Abnormal brainstem MRI signal intensity, Hypertrophic car... ORPHA:444013
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Myelomeningocele... ORPHA:93322
Adenohypophysitis
Abnormal thalamic MRI signal intensity, Reduced circulating prolactin concentration, Pituitary hy... ORPHA:95512
Asbestos Intoxication
Edema, Hypoxemia, Cyanosis, Oxygen desaturation on exertion ORPHA:2302
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Restrictive Dermopathy 2
Intrauterine growth retardation, Cyanosis OMIM:619793
Grange Syndrome
Short palm, Ventricular septal defect, Syndactyly, Patent ductus arteriosus ORPHA:79094
Growth Hormone Deficiency, Isolated Partial
Decreased response to growth hormone stimulation test, Small pituitary gland OMIM:615925
Hoxha-Aliu Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Sho... OMIM:620662
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Epidermolysis Bullosa, Lethal Acantholytic
Clinodactyly of the 5th finger, Sandal gap, Tapered distal phalanges of finger, Neonatal death, N... OMIM:609638
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Abnormal femur morphology, Tarsal sclerosis, Abnormal long bo... ORPHA:166119
Weaver Syndrome
Abnormal metaphysis morphology, Sandal gap, Finger syndactyly, Broad thumb, Camptodactyly of fing... ORPHA:3447
Silver-Russell Syndrome 1
Decreased response to growth hormone stimulation test, Clinodactyly of the 5th finger, Testicular... OMIM:180860
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Limited elbow extension, Diaphyseal undertubulation, Clinodactyly of the 5th finger, Proximal pla... OMIM:620663
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology ORPHA:397725
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Chiari type I malformation, Long toe, Patent foramen ovale, Ventricular s... OMIM:618316
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Cerebellar vermis hypoplasia, Dandy-Walker malformation, Hydrocephalus, Abnormal brainstem morpho... ORPHA:163961
Acute Interstitial Pneumonia
Pleural effusion, Pericardial effusion, Hypoxemia, Peripheral edema, Cyanosis ORPHA:79126
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Poland Syndrome
Hypoplasia of deltoid muscle, Dextrocardia, Unilateral oligodactyly, Syndactyly, Unilateral brach... OMIM:173800
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Intellectual Developmental Disorder, Autosomal Dominant 4
Short toe, Syndactyly OMIM:612581
Endocrine-Cerebroosteodysplasia
Preaxial polydactyly, Fibular bowing, Sandal gap, Hitchhiker thumb, Hydrocephalus, Single transve... OMIM:612651
Hypomelanosis Of Ito
Hand polydactyly, Clinodactyly, Radial deviation of finger, Syndactyly OMIM:300337
Aarskog-Scott Syndrome
Delayed puberty, Radial deviation of finger, Hyperextensibility of the finger joints, Single tran... OMIM:305400
Sirenomelia
Sirenomelia, Spina bifida ORPHA:3169
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Palmoplantar keratoderma, Syndactyly OMIM:613576
Intellectual Developmental Disorder, Autosomal Dominant 72
Short neck, Spina bifida OMIM:620439
Oligomeganephronia
Secundum atrial septal defect, Branchial cyst ORPHA:2260
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon, Abnormal morphology of the radius, Holoprosencephaly, Radial clu... ORPHA:2165
Holt-Oram Syndrome
Aplasia of the pectoralis major muscle, Proximal placement of thumb, Pulmonic stenosis, Aplasia o... OMIM:142900
Double Outlet Right Ventricle
Truncus arteriosus, Pulmonary artery atresia, Short stature, Coarctation of aorta, Cyanosis ORPHA:3426
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Absent toe, Thyroid hypoplasia, Hypoplastic pelvis, Syndactyly, Umbilical hernia, Abnormal cardia... OMIM:308050
Bohring-Opitz Syndrome
Hyperechogenic pancreas, Supernumerary nipple, Deep palmar crease, Dislocated radial head, Dandy-... OMIM:605039
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Prominent protruding coccyx, Hydranencephaly, Hydrocephalus, Dis... ORPHA:2839
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Delayed puberty, Triphalangeal thumb, Finger syndactyly, Hypothyroidism, Arachnodactyly, Camptoda... ORPHA:2994
Orofaciodigital Syndrome Type 14
Molar tooth sign on MRI, Deviation of the hallux, Dandy-Walker malformation, Dilated third ventri... ORPHA:434179
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Cyanosis, Patent ductus arteriosus ORPHA:3304
Limb-Mammary Syndrome
Hypoplastic nipples, Split hand, Camptodactyly, Split foot, Syndactyly, Hallux valgus, Joint cont... OMIM:603543
Polysyndactyly With Cardiac Malformation
Stillbirth, Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly, Atrial septa... OMIM:263630
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Pleural effusion, Pericardial effusion, Hypoxemia, Cyanosis, Pedal edema ORPHA:199241
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Patellar aplasia, Synda... OMIM:135750
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI, Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:617563
Encephalopathy, Ethylmalonic
Petechiae, Acrocyanosis, Death in infancy OMIM:602473
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Abnormality of the hand, Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda... OMIM:246570
Acrootoocular Syndrome
Short finger, Decreased response to growth hormone stimulation test, Sandal gap, Delayed eruption... ORPHA:2980
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the ulna, Finger syndactyl... ORPHA:3320
Triploidy
Meningocele, Hydrocephalus, Holoprosencephaly, Intrauterine growth retardation, Short neck, Abnor... ORPHA:3376
Laurence-Moon Syndrome
Bilateral single transverse palmar creases, Finger syndactyly, Hand polydactyly, Type II diabetes... ORPHA:2377
3C Syndrome
Atrioventricular canal defect, Abnormal tricuspid valve morphology, Abnormal hip bone morphology,... ORPHA:7
Distal 22Q11.2 Microdeletion Syndrome
Truncus arteriosus, Intrauterine growth retardation, Atrial septal defect, Ventricular septal def... ORPHA:261330
Camptobrachydactyly
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Camptodactyly of finger, Brachydactyly, Ulnar... ORPHA:1319
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis OMIM:263000
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Branchial anomaly, Increased nuchal translucency, Abnormal heart morphology, Cystic hygroma, Bicu... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Branchial anomaly, Increased nuchal translucency, Abnormal heart morphology, Cystic hygroma, Bicu... ORPHA:352665
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, Sandal gap, Short 2nd finger, 2-3 toe syndactyly, Cutan... OMIM:600987
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Short metacarpal, Syndactyly, Brachydactyl... OMIM:605282
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Growth delay, Cyanosis OMIM:250800
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Short l... ORPHA:2256
Pfeiffer Syndrome Type 3
Aqueductal stenosis, Short hallux, Finger syndactyly, Broad thumb, Hallux varus, Broad hallux pha... ORPHA:93260
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Supernumerary nipple, Abnormal metacarpal morphology, Short hallux, Finger syndactyly, Toe syndac... ORPHA:3224
Acrocardiofacial Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Hallux valgus, Truncus arteriosus, Ventricular... ORPHA:2008
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion, Hypergonadotropic hypogonadism OMIM:613724
Pallister-Hall Syndrome
Mesoaxial polydactyly, Hypothalamic hamartoma, Thyroid hypoplasia, Oligodactyly, Broad thumb, Umb... ORPHA:672
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu... OMIM:274000
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Molar tooth sign on MRI, Preaxial polydactyly, Cerebellar vermis hypopla... OMIM:615948
Congenital Disorder Of Deglycosylation 2
Sandal gap, Cerebellar vermis hypoplasia, Hypothalamic hamartoma, Bilateral talipes equinovarus, ... OMIM:619775
ERI1-related disease
Limited elbow extension, Clinodactyly of the 5th finger, Dislocated radial head, Oligodactyly, Cu... OMIM:608739
Cutis Laxa, Autosomal Recessive, Type Iie
Clinodactyly of the 5th finger, Deep palmar crease, Syndactyly, Brachydactyly, Genu varum, Hip di... OMIM:619451
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum, Hypertrophic cardiomyopathy ORPHA:79279
Neurodevelopmental Disorder With Language Delay And Seizures
Hypothyroidism, Hypothalamic hamartoma, Ventricular septal defect, Cryptorchidism OMIM:619908
Aarskog-Scott Syndrome
Clinodactyly of the 5th finger, Delayed eruption of teeth, Finger syndactyly, Single transverse p... ORPHA:915
Isolated Posterior Meningocele
Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele, Limi... ORPHA:268810
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Abnormality of the hand, Patent foramen ovale, Camptodactyly, Cryptorchidism, Abnormal heart morp... ORPHA:369891
Apert Syndrome
Limited elbow movement, Broad thumb, Syndactyly, Hydrocephalus, Postaxial hand polydactyly, Crypt... OMIM:101200
Joubert Syndrome 8
Occipital encephalocele, Molar tooth sign on MRI OMIM:612291
Arima Syndrome
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Brainstem dysplasia, Postaxial hand polyda... OMIM:243910
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Craniofrontonasal Dysplasia
Clinodactyly of the 5th finger, Sandal gap, Finger syndactyly, Camptodactyly of finger, Hand poly... ORPHA:1520
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Bardet-Biedl Syndrome 9
Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Syndactyly, Brachydactyly, Postax... OMIM:615986
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Finger syndactyly, ... ORPHA:3429
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Finger syndactyly, Foot polydactyly, Hand polydactyly, Chiari malformation, Toe sy... ORPHA:60040
Absence Of The Pulmonary Artery
Pulmonary edema, Pedal edema, Right aortic arch, Truncus arteriosus, Growth delay, Coarctation of... ORPHA:980
Cranioectodermal Dysplasia
Abnormal metaphysis morphology, Rhizomelia, Clinodactyly of the 5th finger, Abnormal diaphysis mo... ORPHA:1515
Tarp Syndrome
Rocker bottom foot, Hypoplasia of the radius, Deep palmar crease, Cerebellar vermis hypoplasia, S... OMIM:311900
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis, Pedal edema ORPHA:439
Lymphatic Malformation 7
Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc... OMIM:617300
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Spina bifida, Abnormality of dental eruption ORPHA:1327
Silver-Russell Syndrome Due To A Point Mutation
Polydactyly, Small placenta, Clinodactyly of the 5th finger, Ectrodactyly, Hypothyroidism, Syndac... ORPHA:397590
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, Webbed neck, Hydrocephalus, Low posterior hairline, Patent ductus arter... ORPHA:261337
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
2-3 toe syndactyly, Postaxial hand polydactyly, Broad hallux, 2-3 finger syndactyly, Postaxial po... OMIM:217085
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Proximal placement of thumb, Cardiomyopathy, Short palm, Syndactyly, Agenesis of corpus callosum,... OMIM:217980
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Anterior hypopituitarism, Diabetes insipidus, Hydrocephalus, Pituitary ... ORPHA:91350
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus OMIM:618193
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Delayed puberty, Small pituitary gland, Ulnar deviation of the hand, Central adrenal insufficienc... OMIM:612079
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Rubinstein-Taybi Syndrome 2
Short 5th toe, Short first metatarsal, Prominent fingertip pads, Broad thumb, Broad hallux, Synda... OMIM:613684
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Chromosome 13Q33-Q34 Deletion Syndrome
Advanced eruption of teeth, Anencephaly, Encephalocele, Patent ductus arteriosus, Delayed eruptio... OMIM:619148
Orofaciodigital Syndrome Ii
Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Flared metaphysis, Hydrocephalus... OMIM:252100
Adams-Oliver Syndrome 6
Truncus arteriosus, Foot oligodactyly, Syndactyly, Brachydactyly, Ventricular septal defect OMIM:616589
Fg Syndrome Type 1
Abnormal thumb morphology, Small pituitary gland, Clinodactyly of the 2nd finger, Hydrocephalus, ... ORPHA:93932
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Facial edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites... OMIM:265300
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98913
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Dravet Syndrome
Limited neck range of motion, Cyanotic episode ORPHA:33069
Autosomal Recessive Spondylocostal Dysostosis
Spina bifida occulta, Meningocele, Umbilical hernia, Intrauterine growth retardation, Short neck,... ORPHA:2311
Curry-Jones Syndrome
Finger syndactyly, Broad thumb, Foot polydactyly, Abnormality of thumb phalanx, Agenesis of corpu... ORPHA:1553
19P13.12 Microdeletion Syndrome
Atrial septal defect, Deep palmar crease, Clinodactyly of the 5th finger, Sandal gap, Finger synd... ORPHA:254346
White Forelock With Malformations
Finger syndactyly, Atrial septal defect, Clinodactyly of the 5th finger, Spina bifida occulta ORPHA:2475
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Syndactyly, Intrauterine growth retardation, Hypoplasia of the brainstem, Clinodac... ORPHA:2169
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Clinodactyly of the 5th finger, Testicular atrophy, Syndactyly OMIM:601163
Neuroferritinopathy
Iron accumulation in substantia nigra, Abnormal dentate nucleus morphology, Abnormal thalamic MRI... ORPHA:157846
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Clinodactyly, Syndactyly OMIM:619091
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
Cerebrocostomandibular Syndrome
Webbed neck, Hydranencephaly, Meningocele, Myelomeningocele, Spina bifida, Intrauterine growth re... ORPHA:1393
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Genu valgum, Small pituitary gland OMIM:614880
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense thalamic lesion, Abnormal heart morphology, Cerebellar atrophy ORPHA:79264
Oculocerebrocutaneous Syndrome
Hydrocephalus, Dandy-Walker malformation, Finger syndactyly, Congenital hip dislocation, Aplasia/... ORPHA:1647
Kallmann Syndrome-Heart Disease Syndrome
Delayed puberty, Right aortic arch, Pulmonary artery hypoplasia, Growth delay, Short stature, Cya... ORPHA:2326
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Abnormal aortic arch morphology, ... ORPHA:99050
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal death, Cyanosis, Death in infancy OMIM:265120
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Growth delay, Acrocyanosis OMIM:614407
Microphthalmia With Brain And Digit Anomalies
Inferior cerebellar vermis hypoplasia, Proximal placement of thumb, Finger syndactyly, Abnormalit... ORPHA:139471
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Finger syndacty... ORPHA:3258
Congenital Tricuspid Valve Dysplasia
Intrauterine growth retardation, Hypoxemia, Cyanosis, Pericardial effusion ORPHA:555874
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:293987
Microphthalmia With Limb Anomalies
Bilateral single transverse palmar creases, Sandal gap, Abnormality of the upper limb, Tibial bow... ORPHA:1106
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis ORPHA:1302
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Metacarpal synostosis, Pulmonic stenosis, Broad... OMIM:212780
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Broad neck, Dextrocardia, Spina bifida occulta, Hydrocephalus, Myelomenin... OMIM:613686
Congenital Fibrinogen Deficiency
Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis ORPHA:335
Filippi Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Clinodactyly of the 5th ... ORPHA:3255
Tetrasomy 5P
Postnatal growth retardation, Short neck, Redundant neck skin, Cyanosis ORPHA:3309
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Arachnodactyly, Clinodactyly, Syndactyly OMIM:619092
Orofaciodigital Syndrome I
Polydactyly, Cerebellar cyst, Radial deviation of finger, Hydrocephalus, Hypothalamic hamartoma, ... OMIM:311200
Spinocerebellar Ataxia Type 1
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem, Loss of Purkinje cel... ORPHA:98755
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Split hand, Micromelia, Brachydactyly, Intrauterine growth retardation ORPHA:2145
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Cerebellar hypoplasia, Clinodactyly, Cerebellar vermis atrophy, Syndactyly OMIM:618087
Meningioma
Enlarged pituitary gland, Reduced circulating prolactin concentration, Decreased circulating ACTH... ORPHA:2495
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplasia of the radius, Hypoplastic ilia, Micromelia, Postaxial polydactyly, Syndactyly, Brachy... OMIM:617895
Necrotizing Enterocolitis
Edema, Cyanosis, Ascites ORPHA:391673
2Q31.1 Microdeletion Syndrome
Abnormal fibula morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Sandal gap... ORPHA:251014
Desbuquois Dysplasia 2
Monkey wrench femoral neck, Short clavicles, Single transverse palmar crease, Short long bone, Fl... OMIM:615777
Adams-Oliver Syndrome
Abnormal metacarpal morphology, Encephalocele, Hydrocephalus, Absent toe, Abnormality of the uppe... ORPHA:974
Duane-Radial Ray Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Pectoralis hypoplasia, Tr... OMIM:607323
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Ventricular septal defect, Meningocele OMIM:620511
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
Basel-Vanagaite-Smirin-Yosef Syndrome
Overlapping fingers, Cholelithiasis, Finger syndactyly, Single transverse palmar crease, 2-3 toe ... ORPHA:464738
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Meckel Syndrome 14
Occipital encephalocele, Increased nuchal translucency, Short neck, Cyanosis, Oligohydramnios OMIM:619879
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus, Cerebellar atrophy ORPHA:1947
Joubert Syndrome 5
Occipital encephalocele, Molar tooth sign on MRI, Thickened superior cerebellar peduncle, Agenesi... OMIM:610188
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Clinodactyly of the 5th finger, Ulnar bowing, Proximal radio-ulnar synostosis, Limited pronation/... OMIM:605432
Camptobrachydactyly
Congenital finger flexion contractures, Hand polydactyly, Short toe, Syndactyly, Brachydactyly OMIM:114150
Hereditary Bullous Dystrophy, Macular Type