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 0.77% (4 of 517)
aorta 0.19% (1 of 522)
bone 0.0%
brain 0.78% (4 of 512)
brainstem 0.4% (2 of 503)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 524)
cerebellum 0.57% (3 of 527)
cerebral cortex 0.2% (1 of 497)
esophagus 1.41% (5 of 354)
eye 0.0%
gall bladder 0.0%
heart 0.2% (1 of 510)
hippocampus 0.58% (3 of 516)
hypothalamus 0.2% (1 of 509)
kidney 3.02% (15 of 497)
large intestine 1.96% (10 of 511)
liver 0.0%
lower urinary tract 0.2% (1 of 502)
lung 0.39% (2 of 512)
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.2% (1 of 512)
oral epithelium 0.0%
ovary 0.19% (1 of 523)
oviduct 0.0%
pancreas 0.96% (5 of 520)
parathyroid gland 0.21% (1 of 480)
peripheral nervous system 0.4% (2 of 505)
peyers patch 0.0%
pituitary gland 0.2% (1 of 508)
prostate gland 2.14% (11 of 515)
skeletal muscle 0.0%
skin 0.19% (1 of 513)
small intestine 1.37% (7 of 511)
spinal cord 0.58% (3 of 518)
spleen 0.59% (3 of 511)
stomach 2.51% (13 of 517)
striatum 0.39% (2 of 510)
testis 0.98% (5 of 511)
thymus 0.19% (1 of 513)
thyroid gland 3.08% (16 of 519)
trachea 0.59% (3 of 510)
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.

Echo

M-Mode Images

40 Images

Adult LacZ

LacZ Images Wholemount

5 Images

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

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
Joubert Syndrome 13
Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia OMIM:614173
Synpolydactyly 1
Short middle phalanx of the 5th finger, 4-5 toe syndactyly, 6 metacarpals, Postaxial foot polydac... OMIM:186000
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Clinodactyly, Cerebral atrophy, Agenesis of corpus callosum, Cutaneous syndactyly, Molar tooth si... ORPHA:166024
Septopreoptic Holoprosencephaly
Central diabetes insipidus, Ethmoidal encephalocele, Abnormal corpus callosum morphology, Rhomben... ORPHA:280195
Polydactyly, Preaxial Ii
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Duplication of phalanx of ... OMIM:174500
Syndactyly Type 2
Symphalangism affecting the phalanges of the hand, Mesoaxial polydactyly, Short palm, Postaxial f... ORPHA:93403
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Symphalangism With Multiple Anomalies Of Hands And Feet
Brachydactyly, Small thenar eminence, Small hypothenar eminence, Symphalangism affecting the phal... ORPHA:3246
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Lambert Syndrome
Branchial anomaly, Intrauterine growth retardation, Ventricular septal defect ORPHA:1296
Joubert Syndrome 22
Intrauterine growth retardation, Postaxial foot polydactyly, 2-3 toe syndactyly, Molar tooth sign... OMIM:615665
Hydrolethalus Syndrome 2
Postaxial foot polydactyly, Agenesis of corpus callosum, Molar tooth sign on MRI, Anencephaly, Po... OMIM:614120
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Delayed puberty, Hypergonadotropic hypogonadism, Diabetes melli... OMIM:614963
Syndactyly, Type Iii
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Short 5th finger, Syndactyly OMIM:186100
Symphalangism With Multiple Anomalies Of Hands And Feet
Reduced proximal interphalangeal joint space, Small thenar eminence, Small hypothenar eminence, T... OMIM:185750
Orofaciodigital Syndrome Vi
Brachydactyly, Hypothalamic hamartoma, Clinodactyly, Toe syndactyly, Central Y-shaped metacarpal,... OMIM:277170
Meckel Syndrome, Type 4
Bowing of the long bones, Hydrocephalus, Intrauterine growth retardation, Atrial septal defect, B... OMIM:611134
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Bullous Dystrophy, Hereditary Macular Type
Severe short stature, Acrocyanosis, Death in childhood OMIM:302000
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Syndactyly, Polydactyly, Abnormal heart morphology, Upper limb phoc... ORPHA:294975
Thyroid Hormone Metabolism, Abnormal, 1
Elevated circulating thyroid-stimulating hormone concentration OMIM:609698
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Cerebellar hypoplasia, Rocker bottom foot, Hypoplasia of the brainstem, Simplified gyral pattern,... OMIM:619072
Slc35A2-Cdg
Dandy-Walker malformation, Microcephaly, Short tibia, Cortical dysplasia, Dilation of lateral ven... ORPHA:356961
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormal hip bone morphology, Finger syndactyly, Clinodactyly of the 5th finger, Abnormality of t... ORPHA:1891
Acrocephalopolysyndactyly Type Iv
Clinodactyly, Syndactyly, Hand polydactyly, Ulnar deviation of the hand or of fingers of the hand... OMIM:201020
Spinal Muscular Atrophy With Mental Retardation
Microcephaly, Syndactyly OMIM:271109
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Broad hallux, Hallux varus, Syndactyly OMIM:234280
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Cerebellar dysplasia, Cerebellar hypoplasia, Partial agenesis of the ... OMIM:604213
Liebenberg Syndrome
Brachydactyly, Radially deviated wrists, Joint contracture of the 5th finger, Metaphyseal widenin... OMIM:186550
Joubert Syndrome 32
Molar tooth sign on MRI, Hypertrophic cardiomyopathy, Abnormal cerebellum morphology, Postaxial p... OMIM:617757
Joubert Syndrome 18
Intrauterine growth retardation, Molar tooth sign on MRI, Polydactyly, Ventricular septal defect,... OMIM:614815
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Postaxial polydactyly, Agenesis of corpus callosum, Broad hallux OMIM:617127
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Abnormal corpus callosum morphology, Abnormal caudate nucleus morphology, Age... ORPHA:300573
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Joubert Syndrome 36
Molar tooth sign on MRI, Mesoaxial hand polydactyly OMIM:618763
Syndactyly, Type Iv
6 metacarpals, 2-3 toe syndactyly, Triphalangeal thumb, Supernumerary metacarpal bones, Polydacty... OMIM:186200
Syndactyly Type 5
3-4 finger syndactyly, 2-3 toe syndactyly, Clinodactyly of the 5th finger, Short distal phalanx o... ORPHA:93406
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Joubert Syndrome 10
Molar tooth sign on MRI, Postaxial polydactyly, Cerebellar vermis hypoplasia OMIM:300804
Achondroplasia
Brachydactyly, Genu varum, Bowing of the legs, Trident hand, Short femoral neck, Rhizomelia, Limi... OMIM:100800
Wahab Syndrome
Clinodactyly, Short palm, Short metacarpal, Short thumb, Adducted thumb, Camptodactyly, Short foo... OMIM:615170
Joubert Syndrome 7
Abnormal corpus callosum morphology, Molar tooth sign on MRI, Hypoplasia of the brainstem, Brains... OMIM:611560
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Agenesis of corpus callosum, Abnormal midbrain morphology, Micr... ORPHA:314621
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Fusion of the left and right thalami, Absent hippocampal ... OMIM:617542
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Microcephaly, Male hypogonadism, 2-4 toe syndactyly, Syndactyly OMIM:241000
Dystonia 30
Globus pallidus hypointensity on susceptibility-weighted imaging, Hypothalamic hamartoma, Diffuse... OMIM:619291
Joubert Syndrome 16
Dandy-Walker malformation, Molar tooth sign on MRI, Encephalocele, Polydactyly OMIM:614465
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Clinodactyly of the 5th finger, Microcephaly, Radioulnar synostosis, Abnormali... ORPHA:3268
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Cerebral atrophy, Abnormal corpus callosum morphology, Periventricular cysts, Abnormality of the ... ORPHA:255182
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Intrauterine growth retardation, Abnormality of the diencephalon, Aplasia/Hypoplasia of the corpu... ORPHA:2570
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Postaxial hand polydactyly, Metacarpal synostosis, Syndactyly OMIM:263450
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Brachydactyly Type A7
Short 2nd finger, Ulnar deviation of the 2nd finger, Absent middle phalanx of 2nd finger, Triangu... ORPHA:93397
Craniopharyngioma
Central diabetes insipidus, Abnormal hypothalamus morphology, Cerebral calcification, Hypogonadot... ORPHA:54595
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia ORPHA:71289
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Microcephaly, Cutaneous finger syndactyly, Duplication of metatarsal b... OMIM:600384
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Anencephaly, Spina bifida, Ventricular septal defect ORPHA:2476
Congenital Radioulnar Synostosis
Abnormality of the musculature of the upper arm, Dislocated radial head, Congenital hip dislocati... ORPHA:3269
Meckel Syndrome 13
Occipital encephalocele, Cerebellar hypoplasia, Molar tooth sign on MRI OMIM:617562
Amoebiasis Due To Free-Living Amoebae
Abnormal pons morphology, Abnormal hypothalamus morphology, Cerebral edema, Abnormality of the ba... ORPHA:68
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Meckel Syndrome, Type 10
Occipital encephalocele, Molar tooth sign on MRI, Anencephaly, Postaxial polydactyly OMIM:614175
Joubert Syndrome 30
Cerebellar atrophy, Molar tooth sign on MRI, Dandy-Walker malformation, Postaxial hand polydactyl... OMIM:617622
Crossed Polysyndactyly
Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly, Finger syndactyly ORPHA:2935
Split-Hand/Foot Malformation 4
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Ectrodactyly, Aplasia/Hyp... OMIM:605289
Syndactyly Type 3
Camptodactyly of finger, Finger syndactyly, Short toe ORPHA:93404
Al-Gazali-Bakalinova Syndrome
Clinodactyly, Molar tooth sign on MRI, Genu valgum, Agenesis of corpus callosum OMIM:607131
Pituicytoma
Central diabetes insipidus, Hypogonadotropic hypogonadism, Abnormality of circulating adrenocorti... ORPHA:251623
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormality of the basal ganglia, Abnormal brainste... ORPHA:99852
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Toe syndactyly, Finger syndactyly, Agenesis of corpus callosum, Postaxial foot pol... ORPHA:380
20Q11.2 Microdeletion Syndrome
Brachydactyly, Intrauterine growth retardation, Brainstem dysplasia, Adducted thumb, Finger clino... ORPHA:444051
Joubert Syndrome 17
Polydactyly, Molar tooth sign on MRI, Syndactyly, Cerebellar vermis hypoplasia OMIM:614615
Bilateral Frontoparietal Polymicrogyria
Cerebral dysmyelination, Cerebellar dysplasia, Abnormal cerebellum morphology, Microcephaly, Hypo... ORPHA:101070
Split-Hand/Foot Malformation 1
Clinodactyly, Hand oligodactyly, Triphalangeal thumb, Broad hallux, Ectrodactyly, Foot oligodacty... OMIM:183600
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Synostosis of carpal bones, Toe syndactyly, Symphalangism affecting the phalanges of the hand, Fi... ORPHA:157801
Split-Foot Malformation With Mesoaxial Polydactyly
Cutaneous syndactyly OMIM:616890
Joubert Syndrome 25
Cerebellar hypoplasia, Molar tooth sign on MRI OMIM:616781
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Brachydactyly, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Cerebel... OMIM:236500
Acropectorovertebral Dysplasia
Synostosis of carpal bones, Toe syndactyly, Finger syndactyly, Bifid distal phalanx of the thumb,... OMIM:102510
Joubert Syndrome 20
Molar tooth sign on MRI, Syndactyly, Postaxial polydactyly OMIM:614970
Bardet-Biedl Syndrome 5
Brachydactyly, Syndactyly, Hypogonadism, Polydactyly OMIM:615983
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Occipital encephalocele, Anterior hypopituitarism, Micromelia, Abnormal h... OMIM:241800
Frontal Encephalocele
Spina bifida, Encephalocele, Hydrocephalus ORPHA:1931
Filippi Syndrome
Cerebellar atrophy, Single transverse palmar crease, Intrauterine growth retardation, Cutaneous s... OMIM:272440
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agyria, Cerebellar dysplasia, Cerebellar cyst, Cerebellar hypoplasia, Hypoplasia of the pons, Dea... OMIM:613153
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Dilated cardiomyopathy, Clinodactyly, Aplasia of the middle phalanx of the hand, S... OMIM:610140
Coach Syndrome 2
Hydrocephalus, Molar tooth sign on MRI, Agenesis of corpus callosum, Cerebellar vermis hypoplasia OMIM:619111
Cholesterol Pneumonia
Cyanosis, Death in infancy OMIM:215030
Cyanosis And Hepatic Disease
Cyanosis OMIM:219400
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula OMIM:609166
Joubert Syndrome 31
Molar tooth sign on MRI, Hypoplasia of the corpus callosum OMIM:617761
Gómez-López-Hernández Syndrome
Hydrocephalus, Abnormal cerebellum morphology, Abnormal brainstem morphology, Cerebellar vermis h... ORPHA:1532
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Autosomal Recessive Spastic Paraplegia Type 11
Abnormal substantia nigra morphology, Hyperintensity of cerebral white matter on MRI, Hypothalami... ORPHA:2822
Chromosome 2Q35 Duplication Syndrome
3-4 finger syndactyly, Distal symphalangism of hands, 2-3 toe syndactyly, Cutaneous syndactyly OMIM:185900
Ectrodactyly-Polydactyly Syndrome
Brachydactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ectrodactyly... ORPHA:1892
Congenital Muscular Dystrophy With Cerebellar Involvement
Type II lissencephaly, Abnormal brainstem morphology, Dilated fourth ventricle, Occipital encepha... ORPHA:370959
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly OMIM:174200
Joubert Syndrome 4
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Thickened superior cerebellar peduncle, El... OMIM:609583
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Agenesis of corpus callosum, Cryptorchidism, Supernumerary nipple, Dextrocardia, Atrioventricular... OMIM:618929
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume, Abnormality of the basal ganglia, Hypoplasia of the olfactory bulb OMIM:618646
Brachydactyly-Syndactyly Syndrome
Brachydactyly, Finger syndactyly, Oligodactyly, Short phalanx of finger, Short digit, Camptodacty... OMIM:610713
X-Linked Mandibulofacial Dysostosis
Branchial anomaly, Webbed neck, Abnormal mitral valve morphology, Pulmonic stenosis ORPHA:1131
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal corpus callosum morphology, Abnormal 5th metacarpal morphology, Cerebellar hypoplasia, R... ORPHA:397715
Syndactyly, Type V
Brachydactyly, 4-5 toe syndactyly, Carpal synostosis, Absent distal interphalangeal creases, 4-5 ... OMIM:186300
Coasy Protein-Associated Neurodegeneration
Abnormal caudate nucleus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal globus... ORPHA:397725
Congenital Pulmonary Lymphangiectasia
Cyanosis, Hydrops fetalis, Pleural effusion, Growth delay, Ascites, Chylopericardium ORPHA:2414
Santos Syndrome
Brachydactyly, Preaxial polydactyly, Oligodactyly, Metatarsus adductus, Polydactyly, Postaxial po... OMIM:613005
Neuralgic Amyotrophy
Acrocyanosis, Short stature ORPHA:2901
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Cerebellar dysplasia OMIM:615041
Split-Hand/Foot Malformation 6
Toe syndactyly, Finger syndactyly, Hand oligodactyly, Foot oligodactyly, Split hand, Split foot OMIM:225300
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Bardet-Biedl Syndrome 6
Syndactyly, Diabetes mellitus, Polydactyly OMIM:605231
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Increased circulating T4 level, Abnormal circulating insulin level, Elevated circulating thyroid-... ORPHA:171706
Joubert Syndrome 40
Molar tooth sign on MRI, Postaxial polydactyly OMIM:619582
Boomerang Dysplasia
Abnormality of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Cryptorchidism, Mic... ORPHA:1263
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida, Mitral valve prolapse OMIM:211960
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum, Postaxial foot polydactyly, Preaxial foot polydactyly... OMIM:175700
Aminopterin Syndrome Sine Aminopterin
Brachydactyly, Clinodactyly, Intrauterine growth retardation, Cryptorchidism, Syndactyly, Short t... OMIM:600325
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Abnormal cortical gyration, Microcephaly, Polymicrogyria, Neonatal death OMIM:619602
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Pontocerebellar Hypoplasia Type 10
Simplified gyral pattern, Abnormal cerebral cortex morphology, Abnormal brainstem morphology ORPHA:411493
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Fusion of the left and right thalami, Dilated fourth ventricle, Rhombencephalosynapsis, Cerebella... OMIM:619306
Carpenter Syndrome
Brachydactyly, Toe syndactyly, Finger syndactyly, Patent ductus arteriosus, Preaxial foot polydac... ORPHA:65759
Joubert Syndrome With Ocular Defect
Foot polydactyly, Agenesis of corpus callosum, Abnormality of the hypothalamus-pituitary axis, Mo... ORPHA:220493
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Atrial septal defect, Molar tooth sign on MRI, Anencephaly, Aplastic clavicle, Pre... OMIM:616546
Brachydactyly Type B
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Finger syndactyly,... ORPHA:93383
Joubert Syndrome With Oculorenal Defect
Foot polydactyly, Abnormality of the hypothalamus-pituitary axis, Aplasia/Hypoplasia of the corpu... ORPHA:2318
Joubert Syndrome 39
Occipital encephalocele, Molar tooth sign on MRI, Joint contracture of the 5th finger, Hypoplasti... OMIM:619562
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Single transverse palmar crease, Short 5th metacarpal, Short distal phalanx of the... ORPHA:370010
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Cerebellar hypoplasia, Hypoplasia of the brainstem, Lissencephaly, Small hand, Type II lissenceph... ORPHA:300570
Orofaciodigital Syndrome Type 6
Brachydactyly, Hypothalamic hamartoma, Foot polydactyly, Mesoaxial polydactyly, Central Y-shaped ... ORPHA:2754
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Joubert Syndrome 37
Hypoplasia of the corpus callosum, Cryptorchidism, Molar tooth sign on MRI, Decreased testicular ... OMIM:619185
Curry-Jones Syndrome
Agenesis of corpus callosum, Hemimegalencephaly, Cutaneous finger syndactyly, Duplication of thum... OMIM:601707
Alkuraya-Kucinskas Syndrome
Cerebellar dysplasia, Clinodactyly, Kinked brainstem, Cutaneous syndactyly, Cerebellar hypoplasia... OMIM:617822
Joubert Syndrome 15
Molar tooth sign on MRI, Polydactyly OMIM:614464
Spinocerebellar Ataxia Type 2
Abnormal cortical gyration, Abnormal substantia nigra morphology, Cerebral white matter atrophy, ... ORPHA:98756
Joubert Syndrome With Renal Defect
Abnormality of the hypothalamus-pituitary axis, Agenesis of corpus callosum, Molar tooth sign on ... ORPHA:220497
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Brachydactyly, Type B1
Short long bone, Aplasia/Hypoplasia of the distal phalanges of the hand, Joint contracture of the... OMIM:113000
Joubert Syndrome 2
Abnormal corpus callosum morphology, Thickened superior cerebellar peduncle, Molar tooth sign on ... OMIM:608091
Polydactyly, Preaxial Iv
Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, 3-4 finger syndactyly, Dy... OMIM:174700
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Single transverse palmar crease, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Apla... OMIM:609432
Adult Krabbe Disease
Abnormal pons morphology, Abnormal corpus callosum morphology, Abnormality of the medulla oblonga... ORPHA:206448
Brachydactyly Type B2
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Finger syndactyly,... ORPHA:140908
Gangliocytoma
Adrenocorticotropic hormone excess, Abnormal brainstem morphology, Abnormality of the pituitary g... ORPHA:251937
Ritscher-Schinzel Syndrome 2
Clinodactyly, Patent ductus arteriosus, Cerebellar hypoplasia, Atrial septal defect, Cryptorchidi... OMIM:300963
Ritscher-Schinzel Syndrome 1
Tetralogy of Fallot, Intrauterine growth retardation, Atrial septal defect, Double outlet right v... OMIM:220210
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Tetralogy of Fallot, Finger syndactyly, Intrauterine growth retardation, Aplasia/H... ORPHA:1908
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Clinodactyly, Microcephaly, Pachygyria, Hypoplasia of the corpus callosum, Cerebral white matter ... OMIM:619091
Cerebellar-Facial-Dental Syndrome
Single transverse palmar crease, Slender long bone, Cerebellar hypoplasia, Abnormal midbrain morp... ORPHA:444072
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Gordon Syndrome
Cryptorchidism, Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger ORPHA:376
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Polydactyly, Megalencephaly, Ventricular septal defect, Hydrocephalus, P... OMIM:602501
Apnea, Central Sleep
Cyanosis OMIM:207720
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Pituitary Carcinoma
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Pituitary carcinoma, Di... ORPHA:300385
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Basal ganglia calcification, Cerebellar calcifications, Thalamic calcification OMIM:618824
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Short phalanx of finger, Split hand, Split foot OMIM:313350
3P25.3 Microdeletion Syndrome
Acromesomelia, Congenital pseudoarthrosis of the clavicle, Patent ductus arteriosus, Atrial septa... ORPHA:435638
Acromelic Frontonasal Dysostosis
Agenesis of corpus callosum, Retrocerebellar cyst, Hypopituitarism, Cryptorchidism, Preaxial poly... OMIM:603671
Breath-Holding Spells
Cyanosis OMIM:607578
Joubert Syndrome 38
Small pituitary gland, Molar tooth sign on MRI, Decreased serum insulin-like growth factor 1, Dec... OMIM:619476
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Type II lissencephaly, Cerebellar cyst, Cerebellar hypoplasia, Polymicrogyr... OMIM:615181
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Finger syndactyly, Abnormality of femur morphology, Micromelia, Short hu... ORPHA:2019
Tricuspid Atresia
Cyanosis, Pulmonary artery atresia, Coarctation of aorta ORPHA:1209
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Abnormality of the anterior pituitary, Intrauterine growth retardation, Cerebellar hypoplasia, Po... ORPHA:75389
Isolated Klippel-Feil Syndrome
Webbed neck, Short neck, Spina bifida, Ventricular septal defect, Low posterior hairline, Congeni... ORPHA:2345
Acrofacial Dysostosis, Rodríguez Type
Abnormality of pelvic girdle bone morphology, Finger syndactyly, Intrauterine growth retardation,... ORPHA:1788
Proximal Symphalangism
Brachydactyly, Synostosis of carpal bones, Finger syndactyly, Clinodactyly of the 5th finger, Elb... ORPHA:3250
Brachydactyly, Type B2
Aplasia/Hypoplasia of the middle phalanges of the toes, Carpal synostosis, Aplasia/Hypoplasia of ... OMIM:611377
Cleft Palate, Cardiac Defects, And Mental Retardation
Short 2nd finger, 2-3 toe syndactyly, Cutaneous syndactyly, Atrial septal defect, Sandal gap, Sho... OMIM:600987
Central Precocious Puberty
Hypothalamic hamartoma, Isosexual precocious puberty, Hydrocephalus, Premature thelarche, Increas... ORPHA:759
Rhombencephalosynapsis
Fusion of the left and right thalami, Septo-optic dysplasia, Finger syndactyly, Short phalanx of ... ORPHA:59315
Giant Axonal Neuropathy
Abnormal cerebellum morphology, Abnormal hand morphology, Talipes equinovarus, Genu valgum, Abnor... ORPHA:643
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Caudate atrophy, T2 hypointense thalamus, Basal ganglia calcification, Cerebral cortical atrophy,... OMIM:618193
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormal hip bone morphology, Abnormality of the diencephalon, Abnormal brainstem morphology, Ara... ORPHA:2720
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Monosomy 5P
Microcephaly, Finger syndactyly, Intrauterine growth retardation, Small hand ORPHA:281
Acropectorovertebral Dysplasia
Synostosis of carpal bones, Finger syndactyly, Triphalangeal thumb, Short distal phalanx of finge... ORPHA:957
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula ORPHA:50815
Holoprosencephaly 5
Central diabetes insipidus, Semilobar holoprosencephaly, Holoprosencephaly, Lobar holoprosencepha... OMIM:609637
Laurin-Sandrow Syndrome
Hydrocephalus, Toe syndactyly, Finger syndactyly, Absent radius, Absent tibia, Aplasia/Hypoplasia... ORPHA:2378
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Decreased circulating free T4 level, Ce... OMIM:301033
Joubert Syndrome 35
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Single transverse palmar crease, Elongated... OMIM:618161
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Hypomelanosis Of Ito
Cerebral atrophy, Clinodactyly, Hand polydactyly, Microcephaly, Radial deviation of finger, Synda... OMIM:300337
Cach Syndrome
Abnormal pons morphology, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Cereb... ORPHA:135
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst ORPHA:435938
Ring Chromosome 21 Syndrome
Clinodactyly, Diabetes insipidus, Narrow palm, Microcephaly, Abnormal heart morphology, Small han... ORPHA:1445
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Abnormal brainstem morphology, Dandy-Walker malformation, Agenesis of cerebellar vermis, Abnormal... ORPHA:163961
Moebius Syndrome
Brachydactyly, Clinodactyly, Hypogonadotropic hypogonadism, Abnormality of pelvic girdle bone mor... OMIM:157900
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis ORPHA:91130
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Upper limb asymmetry, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Clinodactyly of the 5t... ORPHA:2141
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Patent ductus arteriosus, Cerebellar hypoplasia, Rhizomelia, Molar tooth sign on MRI, Squared ili... OMIM:616300
Joubert Syndrome 1
Clinodactyly, Occipital myelomeningocele, Postaxial foot polydactyly, Cerebellar vermis hypoplasi... OMIM:213300
Holt-Oram Syndrome
Absent thumb, Small thenar eminence, Hypoplasia of the ulna, Phocomelia, Patent ductus arteriosus... OMIM:142900
Joubert Syndrome 9
Molar tooth sign on MRI, Encephalocele OMIM:612285
Familial Acute Necrotizing Encephalopathy
Cerebral edema, Abnormal putamen morphology, Abnormal brainstem morphology, Abnormal brainstem MR... ORPHA:88619
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Microcephaly, Spina bifida, Spina bifida... ORPHA:64754
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar dysplasia, Cerebellar cyst, Dilated fourth ventricle, Abnormal brainstem morphology, I... ORPHA:370022
Bardet-Biedl Syndrome 4
Brachydactyly, Cryptorchidism, Polydactyly, Hypogonadism, Syndactyly OMIM:615982
Mesomelic Dysplasia, Nievergelt Type
Genu varum, Abnormality of the ulna, Finger syndactyly, Camptodactyly of finger, Bilateral single... ORPHA:2633
Holt-Oram Syndrome
Absent thumb, Finger syndactyly, Phocomelia, Patent ductus arteriosus, Atrial septal defect, Trip... ORPHA:392
Japanese Encephalitis
Abnormal pons morphology, Cerebral edema, Abnormal caudate nucleus morphology, Abnormal substanti... ORPHA:79139
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Brachydactyly, Small pituitary gland, Short long bone, Molar tooth sign on MRI, Dysgenesis of the... OMIM:619479
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Pituitary Adenoma 1, Multiple Types
Increased serum insulin-like growth factor 1, Pituitary prolactin cell adenoma, Prolactinoma, Ele... OMIM:102200
Leukoencephalopathy With Dystonia And Motor Neuropathy
Leukoencephalopathy, Abnormality of thalamus morphology, Hypergonadotropic hypogonadism OMIM:613724
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Split foot, Hypoplasia of the ulna, Short finger, Syndactyly OMIM:314360
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Hypoplasia of the ulna, Ventricular septal defect, Truncus arteriosus, Neonatal death, Mesomelia,... OMIM:228940
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Terminal Osseous Dysplasia
Brachydactyly, Toe clinodactyly, Mesomelic leg shortening, Mesomelic arm shortening, Abnormal han... OMIM:300244
Combined Oxidative Phosphorylation Deficiency 51
Cerebral atrophy, Intrauterine growth retardation, Focal T2 hyperintense thalamic lesion OMIM:619057
Pfeiffer Syndrome Type 1
Broad hallux phalanx, Toe syndactyly, Finger syndactyly, Short palm, Aplasia/Hypoplasia of the th... ORPHA:93258
47,Xyy Syndrome
Hydrocephalus, Cerebellar dysplasia, Abnormal brainstem morphology, Cryptorchidism, Increased ser... ORPHA:8
Joubert Syndrome 6
Thickened superior cerebellar peduncle, Bile duct proliferation, Molar tooth sign on MRI, Elongat... OMIM:610688
Joubert Syndrome 3
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Elongated superior cerebellar peduncle OMIM:608629
Fibular Hemimelia
Fibular hypoplasia, Spina bifida, Short tibia, Short toe, Abnormal morphology of ulna, Arthralgia... ORPHA:93323
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Intrauterine growth retardation, Cystic hygroma, Atrial septal defect, Abnormal heart morphology,... ORPHA:453499
Pallister-Hall Syndrome
Hypothalamic hamartoma, Panhypopituitarism, Cryptorchidism, Ventricular septal defect, Distal sho... OMIM:146510
Aplasia Cutis Congenita
Spinal dysraphism, Toe syndactyly, Finger syndactyly ORPHA:1114
Oculocerebrodental Syndrome
Dysplastic corpus callosum, Clinodactyly, Short 5th finger, Abnormality of thalamus morphology, H... ORPHA:557003
X-Linked Acrogigantism
Diabetes insipidus, Increased serum insulin-like growth factor 1, Hypopituitarism, Decreased thyr... ORPHA:300373
Schisis Association
Anencephaly, Spina bifida, Encephalocele ORPHA:63862
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Camptodactyly, Split hand, Syndactyly, Joint contracture of the hand OMIM:225280
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Abnormal brainstem MRI signal intensity, Abnormal basal ganglia MRI ... ORPHA:444013
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Toe syndactyly, Abnormal corpus callosum morphology, Finger syndactyly, Cerebellar hypoplasia, Su... ORPHA:3224
Neuroferritinopathy
Abnormality of the basal ganglia, Abnormal caudate nucleus morphology, Iron accumulation in globu... ORPHA:157846
Bohring-Opitz Syndrome
Intrauterine growth retardation, Agenesis of corpus callosum, Atrial septal defect, Dislocated ra... OMIM:605039
Aprosencephaly And Cerebellar Dysgenesis
Cerebellar dysplasia, Poorly formed metencephalon, Absent mesencephalon, Aprosencephaly, Talipes ... OMIM:601374
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Silver-Russell Syndrome 3
Cryptorchidism, Syndactyly, Patent ductus arteriosus, Finger clinodactyly OMIM:616489
Panhypophysitis
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Abnormalit... ORPHA:95513
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Endocrine-Cerebroosteodysplasia
Brachydactyly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Sandal gap, Preaxial pol... OMIM:612651
Rubinstein-Taybi Syndrome 2
Microcephaly, Syndactyly, Broad hallux, Broad thumb OMIM:613684
Non-Functioning Pituitary Adenoma
Diabetes insipidus, Panhypopituitarism, Central adrenal insufficiency, Adrenocorticotropic hormon... ORPHA:91349
Sclerosteosis
Curved distal phalanges of the hand, Finger syndactyly, Diaphyseal thickening, 2-3 finger syndactyly ORPHA:3152
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Septooptic Dysplasia
Agenesis of corpus callosum, Anterior pituitary hypoplasia, Diabetes insipidus, Polydactyly, Shor... OMIM:182230
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Agyria, Abnormal pons morphology, Cerebellar cyst, Abnormal brainstem morphology, Hypoplasia of t... ORPHA:370997
Coach Syndrome 1
Occipital encephalocele, Molar tooth sign on MRI, Aplasia/Hypoplasia of the cerebellar vermis, Po... OMIM:216360
Arima Syndrome
Occipital meningocele, Postaxial foot polydactyly, Dilated fourth ventricle, Molar tooth sign on ... OMIM:243910
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Hypothyroidism, Reduced circulating pro... OMIM:300888
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon, Radial club hand, Microcephaly, Abnormality of the radius, Holop... ORPHA:2165
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Webbed neck, Right aortic arch, Truncus arteriosus, Death in infancy, Interrupted aorti... OMIM:617478
Timothy Syndrome
Tetralogy of Fallot, Hypothyroidism, Patent foramen ovale, Patent ductus arteriosus, Cutaneous sy... OMIM:601005
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Thickened nuchal skin fold, Short neck, Intrauterine growth retardation, Cyanotic episode ORPHA:284417
Pfeiffer Syndrome Type 2
Broad hallux phalanx, Toe syndactyly, Hydrocephalus, Finger syndactyly, Deviation of the thumb, S... ORPHA:93259
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Hypothyroidism, Finger syndactyly, Triphalangeal thumb, Microcephaly, Arachnodactyly, Short dista... ORPHA:2994
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, Cone-shaped epiphy... ORPHA:1505
Summitt Syndrome
Syndactyly OMIM:272350
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Small pituitary gland, Genu valgum, Decreased testicular size OMIM:614880
Bor Syndrome
Branchial cyst ORPHA:107
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Postaxial foot polydactyly, 2-3 toe syndactyly, Cryptorchidism, Broad distal phalanx of finger, A... ORPHA:404440
Charlie M Syndrome
Brachydactyly, Finger syndactyly, Triphalangeal thumb, Split hand, Abnormal metacarpal morphology ORPHA:1406
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormality of fibula morpholog... ORPHA:3329
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Coarctation of aorta, Patent ductus arteriosus OMIM:601612
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Abnormal thumb morphology, Finger syndactyly, Proximal placement of thumb, Abnormality of the wri... ORPHA:1825
Congenital Disorder Of Glycosylation, Type Iiq
Secondary microcephaly, Small pituitary gland, Diffuse cerebral atrophy, Hypoplasia of the corpus... OMIM:617395
Fatco Syndrome
Finger syndactyly, Abnormality of fibula morphology, Absent hand, Abnormality of tibia morphology... ORPHA:2492
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Cutaneous syndactyly, Atrial... OMIM:618316
Caudal Duplication
Spina bifida, Myelomeningocele ORPHA:1756
6P22 Microdeletion Syndrome
Clinodactyly, Finger syndactyly, Patent ductus arteriosus, Hydrocephalus ORPHA:251046
Eosinophilic Fasciitis
Acrocyanosis, Edema, Muscular edema ORPHA:3165
Idiopathic Congenital Hypothyroidism
Delayed proximal femoral epiphyseal ossification, Abnormality of epiphysis morphology, Decreased ... ORPHA:95717
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Adenohypophysitis
Gonadotropin deficiency, Abnormal size of pituitary gland, Panhypopituitarism, Hashimoto thyroidi... ORPHA:95512
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Palmoplantar keratoderma, Finger syndactyly, Triphalangeal thumb, Short thumb, Camptodactyly of f... ORPHA:2251
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Cerebral atrophy, Enlargement of the wrists, Metaphyseal chondrodysplasia, Abnormal brainstem MRI... ORPHA:83629
Tarp Syndrome
Clinodactyly, Abnormal corpus callosum morphology, Tetralogy of Fallot, Single transverse palmar ... OMIM:311900
Chiari Malformation Type Ii
Myelomeningocele, Spina bifida, Cervical myelopathy, Hydrocephalus OMIM:207950
Infant Acute Respiratory Distress Syndrome
Cyanosis, Hypoxemia, Pulmonary edema ORPHA:70587
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test OMIM:615925
Isolated Osteopoikilosis
Abnormal pelvis bone morphology, Sclerotic foci within carpal bones, Abnormal pelvis bone ossific... ORPHA:166119
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula OMIM:113650
Holoprosencephaly
Abnormal pulmonary valve morphology, Tetralogy of Fallot, Short neck, Spinal dysraphism, Ventricu... ORPHA:2162
Acrocardiofacial Syndrome
Toe syndactyly, Tetralogy of Fallot, Foot polydactyly, Intrauterine growth retardation, Finger sy... ORPHA:2008
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Patent ductus arteriosus, Atrial septal defect, Abnormal aortic valve morphology, Spina bifida, B... ORPHA:1120
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Tibial Hemimelia
Radial club hand, Cryptorchidism, Mesomelic leg shortening, Short tibia, Hip dysplasia, Hip dislo... ORPHA:93322
Summitt Syndrome
Brachydactyly, Finger syndactyly, Short palm, Short 4th metacarpal, Clinodactyly of the 5th finge... ORPHA:3210
17Q12 Microduplication Syndrome
Atrial septal defect, Toe syndactyly, Finger syndactyly, Cortical dysplasia ORPHA:261272
Craniofrontonasal Dysplasia
Brachydactyly, Congenital pseudoarthrosis of the clavicle, Finger syndactyly, Sandal gap, Clinoda... ORPHA:1520
Orofaciodigital Syndrome Type 14
Postaxial foot polydactyly, Dilated fourth ventricle, Patent ductus arteriosus, Dilated third ven... ORPHA:434179
Charcot-Marie-Tooth Disease, Type 4B3
Microcephaly, Syndactyly OMIM:615284
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Cervical spina bifida, Short neck, Low posterior hairline OMIM:600122
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Toe syndactyly, Foot polydactyly, Finger syndactyly, Hand polydactyly, Chiari malformation, Hydro... ORPHA:60040
Czeizel-Losonci Syndrome
Myelomeningocele, Single transverse palmar crease, Clubbing of toes, Dextrocardia, Ectrodactyly, ... ORPHA:2437
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Brachydactyly, Clinodactyly, Syndactyly OMIM:610023
Leigh Syndrome With Cardiomyopathy
Dilated cardiomyopathy, Abnormal caudate nucleus morphology, Basal ganglia gliosis, Abnormal brai... ORPHA:70474
Congenital Heart Defects And Ectodermal Dysplasia
Microcephaly, Syndactyly, Broad thumb OMIM:617364
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Abnormal aortic arch morphology, Hypoxemia, Patent ductus arteriosus, Coarctation of ao... ORPHA:860
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Growth delay OMIM:250800
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Central diabetes insipidus, Hypopituitarism, Increased circulating prolactin concentration, Adren... ORPHA:91354
Orofaciodigital Syndrome Xiv
Patent ductus arteriosus, Postaxial polydactyly, Occipital encephalocele, Cerebellar hypoplasia, ... OMIM:615948
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Delayed proximal femoral epiphyseal ossification, Abnormalit... ORPHA:95716
Mohr Syndrome
Brachydactyly, Hydrocephalus, Metaphyseal irregularity, Partial duplication of the phalanges of t... OMIM:252100
Pelvis-Shoulder Dysplasia
Hypoplastic ischia, Hypoplastic pubic bone, Absent proximal finger flexion creases, Aplasia/Hypop... ORPHA:2839
Poland Syndrome
Unilateral brachydactyly, Dextrocardia, Hypoplasia of deltoid muscle, Unilateral oligodactyly, Sy... OMIM:173800
Pfeiffer Syndrome
Hydrocephalus, Finger syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux... OMIM:101600
Weaver Syndrome
Finger syndactyly, Cryptorchidism, Sandal gap, Abnormality of the metaphysis, Broad thumb, Campto... ORPHA:3447
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Tapered finger, Syndactyly OMIM:618725
Apert Syndrome
Cerebellar hypoplasia, Rhizomelic arm shortening, Cryptorchidism, Ventricular septal defect, Chia... OMIM:101200
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Microcephaly, Clinodactyly, Arachnodactyly, Syndactyly OMIM:619092
Grange Syndrome
Short palm, Ventricular septal defect, Patent ductus arteriosus, Syndactyly ORPHA:79094
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Cerebellar atrophy, Focal T2 hyperintense thalamic lesion, Abnormal heart morph... ORPHA:79264
Mosaic Trisomy 1
Absent distal interphalangeal creases, Cerebellar hypoplasia, Hand clenching, Ventricular septal ... ORPHA:1692
Functioning Gonadotropic Adenoma
Central diabetes insipidus, Hydrocephalus, Delayed puberty, Panhypopituitarism, Increased serum t... ORPHA:91348
Methylcobalamin Deficiency Type Cble
Clinodactyly, Intrauterine growth retardation, Hypoplasia of the brainstem, Microcephaly, Hydroce... ORPHA:2169
Buerger Disease
Acrocyanosis ORPHA:36258
Oligomeganephronia
Branchial cyst, Secundum atrial septal defect ORPHA:2260
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Acute Interstitial Pneumonia
Cyanosis, Peripheral edema, Hypoxemia, Pleural effusion, Pericardial effusion ORPHA:79126
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Acrootoocular Syndrome
Small thenar eminence, Small hypothenar eminence, Decreased palmar creases, Delayed eruption of t... ORPHA:2980
Acrodysostosis 1 With Or Without Hormone Resistance
Cryptorchidism, Broad palm, Congenital hypothyroidism, Decreased growth hormone responses to grow... OMIM:101800
Asbestos Intoxication
Cyanosis, Edema, Hypoxemia, Oxygen desaturation on exertion ORPHA:2302
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Palmoplantar keratoderma, Syndactyly OMIM:613576
Epidermolysis Bullosa, Lethal Acantholytic
Mitten deformity, Widely spaced toes, Tapered distal phalanges of finger, Sandal gap, Clinodactyl... OMIM:609638
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Brachydactyly, Clinodactyly, Agenesis of corpus callosum, Patent ductus arteriosus, Short palm, C... OMIM:217980
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Carpal synostosis, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Spina bifid... OMIM:274000
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Gonadotropin deficiency, Anterior pituitary hypoplasia, Adrenocorticotropic hormone deficiency, P... ORPHA:231720
Oculocerebrocutaneous Syndrome
Finger syndactyly, Cerebellar hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypo... ORPHA:1647
Double Outlet Right Ventricle
Cyanosis, Coarctation of aorta, Short stature, Pulmonary artery atresia, Truncus arteriosus ORPHA:3426
Microgastria-Limb Reduction Defects Association
Absent thumb, Fusion of the left and right thalami, Hypoplasia of the ulna, Absent gallbladder, A... OMIM:156810
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Duplication of phalanx of hallux, Preaxial hand polydactyly, Ventricular se... OMIM:263630
Aarskog-Scott Syndrome
Brachydactyly, Clinodactyly, Single transverse palmar crease, Short palm, Cryptorchidism, Elevate... OMIM:305400
Adams-Oliver Syndrome
Abnormal pulmonary valve morphology, Brachydactyly, Tetralogy of Fallot, Hydrocephalus, Finger sy... ORPHA:974
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Pulmonary Capillary Hemangiomatosis
Cyanosis, Hypoxemia, Pleural effusion, Pedal edema, Pericardial effusion, Pulmonary edema ORPHA:199241
Temtamy Preaxial Brachydactyly Syndrome
Brachydactyly, Clinodactyly, Carpal synostosis, Short metacarpal, Radioulnar synostosis, Tarsal s... OMIM:605282
Laurin-Sandrow Syndrome
Absent radius, Absent tibia, Triphalangeal thumb, Hand polydactyly, Fibular duplication, Short fo... OMIM:135750
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Cerebellar hypoplasia, Microcephaly, Clinodactyly, Syndactyly OMIM:618087
Post-Traumatic Pituitary Deficiency
Central diabetes insipidus, Hypogonadotropic hypogonadism, Delayed puberty, Panhypopituitarism, D... ORPHA:95619
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia of the proximal phalanges of the hand, Hypoplasia of the ulna, Finger syndactyly, Aplasia... ORPHA:2256
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis OMIM:252320
Limb-Mammary Syndrome
Syndactyly, Hypoplastic nipples, Hallux valgus, Camptodactyly, Split hand, Split foot, Joint cont... OMIM:603543
3C Syndrome
Brachydactyly, Abnormal hip bone morphology, Tetralogy of Fallot, Hydrocephalus, Aortic valve ste... ORPHA:7
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Hand oligodactyly, Tibial bowing, Foot oligodactyly, Fibular aplasia, Short tibia, Abnormality of... OMIM:246570
19P13.12 Microdeletion Syndrome
Hypothyroidism, Toe clinodactyly, Intrauterine growth retardation, Finger syndactyly, Short palm,... ORPHA:254346
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Cerebral calcification, Toe syndactyly, Finger syndactyly, Intrauterine growth retardation, Short... ORPHA:73246
Curry-Jones Syndrome
Toe syndactyly, Foot polydactyly, Agenesis of corpus callosum, Finger syndactyly, Preaxial hand p... ORPHA:1553
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Panhypopituitarism, Decreased thyroid-stimulating hormone level, Decreased circulating T4 level, ... ORPHA:226307
Pallister-Hall Syndrome
Hypothalamic hamartoma, Abnormal corpus callosum morphology, Primary adrenal insufficiency, Mesoa... ORPHA:672
Camptobrachydactyly
Brachydactyly, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Ulnar deviatio... ORPHA:1319
Chromosome 13Q33-Q34 Deletion Syndrome
Small thenar eminence, Single transverse palmar crease, Agenesis of corpus callosum, Patent ductu... OMIM:619148
Silver-Russell Syndrome 1
Intrauterine growth retardation, Clinodactyly of the 5th finger, Testicular seminoma, Short dista... OMIM:180860
Primary Pulmonary Hypoplasia
Cyanosis, Hypoxemia, Abnormal pulmonary artery morphology, Intrauterine growth retardation ORPHA:2257
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hypertrophic cardiomyopathy, Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology ORPHA:79279
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Tetralogy of Fallot, Coxa valga, Phocomelia, Absent radius, Finger syndactyly, Clinod... ORPHA:3320
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Absent ossification of capital femoral epiphysis, Abnormality of epiphysis morphology, Goiter, Co... ORPHA:226313
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Overriding aorta, Patent ductus arteriosus ORPHA:3304
Chromosome Xp11.23-P11.22 Duplication Syndrome
Precocious puberty, Syndactyly OMIM:300801
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Cystic hygroma, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Incre... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Cystic hygroma, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Incre... ORPHA:352665
Laurence-Moon Syndrome
Brachydactyly, Finger syndactyly, Cryptorchidism, Hand polydactyly, Type II diabetes mellitus, Bi... ORPHA:2377
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis OMIM:263000
Filippi Syndrome
Finger syndactyly, Intrauterine growth retardation, Cryptorchidism, Clinodactyly of the 5th finge... ORPHA:3255
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Agenesis of corpus callosum, Postaxial foot polydactyly, Abnormality of the hy... ORPHA:139471
Aarskog-Scott Syndrome
Single transverse palmar crease, Delayed eruption of teeth, Finger syndactyly, Short palm, Crypto... ORPHA:915
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Brachydactyly, Abnormality of the hypothalam... ORPHA:293987
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Verloove Vanhorick-Brubakk Syndrome
Abnormality of pelvic girdle bone morphology, Finger syndactyly, Cryptorchidism, Abnormality of t... ORPHA:3429
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormality of thyroid physiology, Reduced radioactive iodine uptake, Decreased thyroid-stimulati... ORPHA:95715
Bdv Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619326
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, 3-4 finger... OMIM:619217
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cryptorchidism, Cerebral cortical atrophy, Congenital bilateral hip dislocation, Syndactyly ORPHA:404451
Thyroid Hormone Resistance, Selective Pituitary
Hyperthyroidism, Impaired sensitivity to thyroid hormone, Elevated circulating thyroid-stimulatin... OMIM:145650
Orofaciodigital Syndrome I
Abnormal cortical gyration, Hypothalamic hamartoma, Cerebral atrophy, Myelomeningocele, Clinodact... OMIM:311200
Encephalopathy, Ethylmalonic
Acrocyanosis, Death in infancy, Petechiae OMIM:602473
Meckel Syndrome, Type 1
Clinodactyly, Foot polydactyly, Cerebellar hypoplasia, Cryptorchidism, Bile duct proliferation, S... OMIM:249000
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Increased circulating T4 level, Hyperthyroidism OMIM:603373
Joubert Syndrome 8
Occipital encephalocele, Molar tooth sign on MRI OMIM:612291
Bardet-Biedl Syndrome 9
Brachydactyly, Postaxial foot polydactyly, Polydactyly, Postaxial hand polydactyly, Postaxial pol... OMIM:615986
Spinocerebellar Ataxia Type 1
Atrophy/Degeneration affecting the brainstem, Loss of Purkinje cells in the cerebellar vermis, Ce... ORPHA:98755
Desbuquois Dysplasia 2
Advanced ossification of carpal bones, Genu varum, Short long bone, Single transverse palmar crea... OMIM:615777
Cranioectodermal Dysplasia
Brachydactyly, Finger syndactyly, Rhizomelia, Clinodactyly of the 5th finger, Short distal phalan... ORPHA:1515
Premature Aging Syndrome, Penttinen Type
Brachydactyly, Delayed eruption of teeth, Osteolytic defects of the phalanges of the hand, Elevat... OMIM:601812
2Q31.1 Microdeletion Syndrome
Abnormality of the ulna, Cryptorchidism, Sandal gap, Clinodactyly of the 5th finger, Tapered fing... ORPHA:251014
Arnold-Chiari Malformation Type Ii
Hand muscle atrophy, Myelomeningocele, Agenesis of corpus callosum, Partial agenesis of the corpu... ORPHA:1136
Silver-Russell Syndrome Due To A Point Mutation
Hypothyroidism, Intrauterine growth retardation, Cryptorchidism, Clinodactyly of the 5th finger, ... ORPHA:397590
Distal 22Q11.2 Microdeletion Syndrome
Intrauterine growth retardation, Atrial septal defect, Branchial fistula, Ventricular septal defe... ORPHA:261330
Pfeiffer Syndrome Type 3
Toe syndactyly, Finger syndactyly, Short hallux, Chiari malformation, Hallux varus, Small hand, B... ORPHA:93260
New-Onset Refractory Status Epilepticus
Abnormal thalamic MRI signal intensity, Focal T2 hyperintense basal ganglia lesion, Abnormal basa... ORPHA:363558
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Acute Disseminated Encephalomyelitis
Cerebral edema, Abnormality of the basal ganglia, Hypointensity of cerebral white matter on MRI, ... ORPHA:83597
Craniosynostosis And Dental Anomalies
Clinodactyly, Delayed eruption of teeth, 2-3 toe syndactyly, Short phalanx of finger, Hallux valg... OMIM:614188
Absence Of The Pulmonary Artery
Cyanosis, Patent ductus arteriosus, Growth delay, Coarctation of aorta, Hypocapnia, Right aortic ... ORPHA:980
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Cerebral atrophy, Clinodactyly, Single transverse palmar crease, Agenesis of corp... ORPHA:464738
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida, Abnormality of dental eruption, Intrauterine growth retardation ORPHA:1327
Leigh Syndrome
Cerebellar atrophy, Hypoplasia of the corpus callosum, Intrauterine growth retardation, Agenesis ... ORPHA:506
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Neu-Laxova Syndrome 1
Clinodactyly, Cerebellar hypoplasia, Cryptorchidism, Dandy-Walker malformation, Microcephaly, Spi... OMIM:256520
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI, Postaxial hand polydactyly OMIM:617563
Intellectual Developmental Disorder, Autosomal Dominant 4
Short toe, Syndactyly OMIM:612581
White Forelock With Malformations
Spina bifida occulta, Clinodactyly of the 5th finger, Atrial septal defect, Finger syndactyly ORPHA:2475
Adams-Oliver Syndrome 6
Brachydactyly, Foot oligodactyly, Ventricular septal defect, Truncus arteriosus, Syndactyly OMIM:616589
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Finger syndactyly, Delayed eruption of teeth, Short metacarpal, Sandal gap, Short phalanx of fing... OMIM:264475
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Clinodactyly of the 5th finger, Testicular atrophy, Syndactyly OMIM:601163
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Distal 22Q11.2 Microduplication Syndrome
Webbed neck, Patent ductus arteriosus, Tricuspid valve prolapse, Branchial fistula, Ventricular s... ORPHA:261337
Triploidy
Finger syndactyly, Intrauterine growth retardation, Aplasia/Hypoplasia of the corpus callosum, Cr... ORPHA:3376
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Fibular hypoplasia, Cryptorchidism, Sandal gap, Clinodactyly of the 5t... ORPHA:1106
Pituitary Deficiency Due To Rathke Cleft Cysts
Hypogonadotropic hypogonadism, Diabetes insipidus, Panhypopituitarism, Hypopituitarism, Anterior ... ORPHA:91350
Combined Oxidative Phosphorylation Defect Type 7
Abnormal thalamic MRI signal intensity, Abnormal brainstem MRI signal intensity, Abnormal cerebra... ORPHA:254930
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Brachydactyly, Tetralogy of Fallot, Single transverse palmar crease, 2-3 toe syndactyly, Short fe... OMIM:614701
Progeria-Short Stature-Pigmented Nevi Syndrome
Brachydactyly, Delayed puberty, Decreased serum testosterone concentration, Decreased serum estra... ORPHA:2959
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Brachydactyly, Single transverse palmar crease, Sandal gap, Micromelia, Syndactyly OMIM:614800
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Kbg Syndrome
Single transverse palmar crease, Cutaneous syndactyly, Cryptorchidism, Congenital malformation of... ORPHA:2332
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Pulmonary artery hypoplasia, Growth delay, Short stature, Right aortic arch, Delayed pu... ORPHA:2326
Fg Syndrome Type 1
Small pituitary gland, Abnormal thumb morphology, Broad toe, Single transverse palmar crease, Fin... ORPHA:93932
19Q13.11 Microdeletion Syndrome
Toe syndactyly, Toe clinodactyly, Intrauterine growth retardation, Finger syndactyly, Cryptorchid... ORPHA:217346