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Gene: Fgf8 MGI:99604

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Gene Summary

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

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
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 0.7% (4 of 575)
aorta 0.0%
bone 0.0%
brain 0.87% (5 of 577)
brainstem 0.35% (2 of 579)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 579)
cerebellum 0.52% (3 of 581)
cerebral cortex 0.35% (2 of 574)
esophagus 1.73% (7 of 404)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 571)
hippocampus 0.34% (2 of 586)
hypothalamus 0.35% (2 of 577)
kidney 4.66% (27 of 580)
large intestine 5.15% (30 of 583)
liver 0.0%
lower urinary tract 0.17% (1 of 583)
lung 0.34% (2 of 588)
lymph node 0.17% (1 of 587)
mammary gland 0.0%
olfactory lobe 0.17% (1 of 579)
oral epithelium 0.0%
ovary 0.17% (1 of 576)
oviduct 0.0%
pancreas 0.87% (5 of 578)
parathyroid gland 0.18% (1 of 558)
peripheral nervous system 0.34% (2 of 580)
peyers patch 0.0%
pituitary gland 0.17% (1 of 576)
prostate gland 1.89% (11 of 583)
skeletal muscle 0.0%
skin 0.17% (1 of 577)
small intestine 5.34% (31 of 581)
spinal cord 0.52% (3 of 576)
spleen 0.52% (3 of 581)
stomach 3.61% (21 of 582)
striatum 0.52% (3 of 582)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 582)
thyroid gland 3.1% (18 of 581)
trachea 0.34% (2 of 589)
uterus 0.35% (2 of 579)
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.

Adult LacZ

LacZ Images Wholemount

5 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Echo

M-Mode Images

40 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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OPT E9.5

Embryo reconstruction

1 Images

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Auditory Brain Stem Response

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

4 Images

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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
Postaxial foot polydactyly, 2nd-5th toe middle phalangeal hypoplasia, 3-4 finger syndactyly, Y-sh... OMIM:186000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Joubert Syndrome 13
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Polydactyly, Preaxial Ii
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Preaxial foot polydactyly,... OMIM:174500
Syndactyly Type 2
Postaxial foot polydactyly, Camptodactyly of finger, 3-4 finger syndactyly, Mesoaxial polydactyly... ORPHA:93403
Symphalangism With Multiple Anomalies Of Hands And Feet
Short distal phalanx of hallux, Small thenar eminence, Aplasia/Hypoplasia of the distal phalanx o... ORPHA:3246
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Spindle-shaped finger, Cutaneous syndactyly, Delayed epiphyseal ossification, Clinodactyly, Molar... ORPHA:166024
Polydactyly, Postaxial, Type A1
Postaxial foot polydactyly, Syndactyly, Preaxial foot polydactyly, Broad thumb, Postaxial hand po... OMIM:174200
Lambert Syndrome
Branchial anomaly, Intrauterine growth retardation, Ventricular septal defect ORPHA:1296
Septopreoptic Holoprosencephaly
Hypoplasia of the pons, Abnormal midbrain morphology, Ethmoidal encephalocele, Rhombencephalosyna... ORPHA:280195
Syndactyly, Type Iii
4-5 finger syndactyly, Short 5th finger, Syndactyly, Absent middle phalanx of 5th finger OMIM:186100
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Syndactyly Type 1
Toe syndactyly, Finger syndactyly, Symphalangism affecting the phalanges of the hand ORPHA:93402
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, Abnormal hip bone morphology, Syndactyly, Abnormal heart morphology, Upper limb phoc... ORPHA:294975
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormal hip bone morphology, Finger syndactyly, Abnormality of the upper limb, Bilateral single ... ORPHA:1891
Thyroid Hormone Metabolism, Abnormal, 3
Abnormal circulating free T3 concentration, Abnormal circulating free T4 concentration, Abnormal ... OMIM:620198
Leptin Receptor Deficiency
Delayed puberty, Abnormal hypothalamus morphology, Diabetes mellitus, Decreased response to growt... OMIM:614963
Joubert Syndrome 18
Camptodactyly, Agenesis of cerebellar vermis, Arrhinencephaly, Postaxial polydactyly, Ventricular... OMIM:614815
Hydrolethalus Syndrome 2
Postaxial foot polydactyly, Hydrocephalus, Preaxial foot polydactyly, Anencephaly, Postaxial hand... OMIM:614120
Orofaciodigital Syndrome Xv
Postaxial hand polydactyly, Broad hallux, Duplication of phalanx of hallux, Molar tooth sign on M... OMIM:617127
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Ventricular septal defe... OMIM:611134
Congenital Radioulnar Synostosis
Congenital hip dislocation, Limited pronation/supination of forearm, Polydactyly, Dislocated radi... ORPHA:3269
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Joubert Syndrome 36
Molar tooth sign on MRI, Mesoaxial hand polydactyly OMIM:618763
Syndactyly, Type Iv
Polydactyly, Postaxial polydactyly, 1-5 finger complete cutaneous syndactyly, Supernumerary metac... OMIM:186200
Slc35A2-Cdg
Camptodactyly of finger, Abnormal long bone morphology, Tetralogy of Fallot, Atrophy/Degeneration... ORPHA:356961
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Postaxial hand polydactyly, Syndactyly, Hydrocephalus OMIM:615938
Joubert Syndrome 22
Postaxial foot polydactyly, Agenesis of cerebellar vermis, Intrauterine growth retardation, Posta... OMIM:615665
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Meckel Syndrome, Type 10
Postaxial foot polydactyly, Camptodactyly, Postaxial polydactyly, Ulnar deviation of the hand, Oc... OMIM:614175
Joubert Syndrome 10
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Postaxial polydactyly OMIM:300804
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Syndactyly Type 5
Short distal phalanx of finger, Camptodactyly of finger, 3-4 finger syndactyly, Ulnar deviation o... ORPHA:93406
Wahab Syndrome
Camptodactyly, Short thumb, Short metacarpal, Syndactyly, Adducted thumb, Short palm, Clinodactyl... OMIM:615170
Joubert Syndrome 16
Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation, Polydactyly OMIM:614465
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Duplication Of The Pituitary Gland
Encephalocele, Abnormality of the pituitary gland, Abnormal hypothalamus morphology, Agenesis of ... ORPHA:314621
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Polydactyly, Cutaneous syndactyly OMIM:607539
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger ORPHA:71289
Meckel Syndrome 13
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar hypoplasia OMIM:617562
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis OMIM:263450
Joubert Syndrome 32
Postaxial foot polydactyly, Abnormal cerebellum morphology, Postaxial hand polydactyly, Hypertrop... OMIM:617757
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Cerebellar hypoplasia, Hypoplasia of the brainstem, Rocker bottom foot, Decreased thalamic volume OMIM:619072
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Anencephaly, Hypoplastic left heart, Spina bifida ORPHA:2476
Joubert Syndrome 30
Dandy-Walker malformation, Postaxial hand polydactyly, Superior cerebellar dysplasia, Molar tooth... OMIM:617622
Crossed Polysyndactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly ORPHA:2935
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy OMIM:610992
Craniopharyngioma
Delayed puberty, Hypopituitarism, Hypogonadism, Hydrocephalus, Abnormal hypothalamus morphology, ... ORPHA:54595
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
20Q11.2 Microdeletion Syndrome
Camptodactyly, Brainstem dysplasia, Intrauterine growth retardation, Finger clinodactyly, Adducte... ORPHA:444051
Syndactyly Type 3
Camptodactyly of finger, Short toe, Finger syndactyly ORPHA:93404
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of metatarsal bones, Ectrodactyly, Syndactyly, Aplasia/Hypoplasia of the phala... OMIM:605289
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Midline brainstem cleft, Hydrocephalus, Hypoplasia of the pons, Fusion of the left and right thal... OMIM:617542
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Joubert Syndrome 7
Encephalocele, Postaxial polydactyly, Brainstem dysplasia, Postaxial hand polydactyly, Hypoplasia... OMIM:611560
Pituicytoma
Hypopituitarism, Abnormal circulating adrenocorticotropin concentration, Increased circulating pr... ORPHA:251623
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Short thumb, Finger syndactyly, Synostosis of carpal bones, Aplasia/Hypoplasia of the hallux, Toe... ORPHA:157801
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Joubert Syndrome 20
Molar tooth sign on MRI, 4-5 toe syndactyly, Postaxial polydactyly OMIM:614970
Bardet-Biedl Syndrome 5
Hypogonadism, Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Joubert Syndrome 15
Molar tooth sign on MRI, Exencephaly, Preaxial polydactyly OMIM:614464
Acropectoral Syndrome
Finger syndactyly, Preaxial hand polydactyly ORPHA:85203
Thyroid Hormone Metabolism, Abnormal, 1
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... OMIM:609698
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula OMIM:609166
Acropectorovertebral Dysplasia
Short thumb, Capitate-hamate fusion, Finger syndactyly, Synostosis of carpal bones, Toe syndactyl... OMIM:102510
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Dilated cardiomyopathy, Clinodactyly, Aplasia of the middle phalanx of the hand, Brac... OMIM:610140
Orofaciodigital Syndrome Vi
Hypoplastic left heart, Arrhinencephaly, Postaxial polydactyly, Mesoaxial hand polydactyly, Preax... OMIM:277170
Al-Gazali-Bakalinova Syndrome
Polydactyly, Flattened epiphysis, Tapered finger, Agenesis of corpus callosum, Clinodactyly, Mola... OMIM:607131
Greig Cephalopolysyndactyly Syndrome
Postaxial foot polydactyly, Hydrocephalus, Umbilical hernia, Finger syndactyly, Preaxial foot pol... ORPHA:380
Pallister-Hall-Like Syndrome
Postaxial foot polydactyly, Hip dislocation, Hydrocephalus, Occipital encephalocele, Chiari type ... OMIM:241800
Split-Hand/Foot Malformation 1
Foot oligodactyly, Ectrodactyly, Syndactyly, Broad hallux, Clinodactyly, Triphalangeal thumb, Han... OMIM:183600
Gómez-López-Hernández Syndrome
Abnormal brainstem morphology, Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Hydr... ORPHA:1532
X-Linked Mandibulofacial Dysostosis
Branchial anomaly, Webbed neck, Abnormal mitral valve morphology, Pulmonic stenosis ORPHA:1131
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Cryptorchidism, Dextrocardia, Supernumerary nipple, Atrioventricular canal defect, Interhypothala... OMIM:618929
Joubert Syndrome 33
Molar tooth sign on MRI, Syndactyly OMIM:617767
Liebenberg Syndrome
2-3 finger syndactyly, Metaphyseal widening, Joint contracture of the 5th finger, Abnormal carpal... OMIM:186550
Syndactyly Type 4
Camptodactyly of finger, Hand polydactyly, Short tibia, Toe syndactyly, 1-5 finger syndactyly, Fo... ORPHA:93405
Joubert Syndrome 4
Thickened superior cerebellar peduncle, Elongated superior cerebellar peduncle, Cerebellar vermis... OMIM:609583
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Chylopericardium, Growth delay, Cyanosis, Pleural effusion, Ascites ORPHA:2414
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly OMIM:185900
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Camptodactyly of finger, Hydranencephaly, Holoprosencephaly, Intrauterine growth retardation, Add... ORPHA:2570
15Q11Q13 Microduplication Syndrome
Finger syndactyly, Clinodactyly of the 5th finger ORPHA:238446
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Ectrodactyly, Finger syndactyly, Abnormal metacarpal morphology, Postaxi... ORPHA:1892
Perching Syndrome
Cyanosis OMIM:617055
Brachydactyly-Syndactyly Syndrome
Oligodactyly, Camptodactyly, Finger syndactyly, Syndactyly, Short digit, Short phalanx of finger,... OMIM:610713
Amoebiasis Due To Free-Living Amoebae
Abnormal brainstem MRI signal intensity, Abnormal pons morphology, Abnormal hypothalamus morpholo... ORPHA:68
Joubert Syndrome 40
Molar tooth sign on MRI, Postaxial polydactyly OMIM:619582
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Radioulnar synostosis, Finger syndactyly, Abnormality of the elbow, Clinodactyly of the 5th finger ORPHA:3268
Dystonia 30
Hypothalamic hamartoma OMIM:619291
Neuralgic Amyotrophy
Short stature, Acrocyanosis ORPHA:2901
Syndactyly, Type V
Short distal phalanx of finger, Camptodactyly of finger, Absent distal interphalangeal creases, 4... OMIM:186300
Verheij Syndrome
Short neck, Ventricular septal defect, Intrauterine growth retardation, Branchial cyst, Truncus a... OMIM:615583
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Male hypogonadism, Syndactyly OMIM:241000
Coach Syndrome 2
Molar tooth sign on MRI, Agenesis of corpus callosum, Cerebellar vermis hypoplasia, Hydrocephalus OMIM:619111
Santos Syndrome
Oligodactyly, Polydactyly, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Metatarsus ad... OMIM:613005
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Cutaneous syndactyly, Clinodactyly of the 5th finger, Neonatal death, Stillbirth... OMIM:236500
Joubert Syndrome 39
Hypoplastic left heart, Postaxial polydactyly, Joint contracture of the 5th finger, Occipital enc... OMIM:619562
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse, Spina bifida OMIM:211960
Wildervanck Syndrome
Meningocele, Webbed neck, Low posterior hairline, Short neck ORPHA:3456
Polydactyly, Preaxial Iv
1-5 toe syndactyly, 3-4 finger syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalange... OMIM:174700
Acalvaria
Holoprosencephaly, Hydrocephalus, Spina bifida ORPHA:945
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Carpenter Syndrome
Cryptorchidism, Polydactyly, Umbilical hernia, Finger syndactyly, Syndactyly, Preaxial foot polyd... ORPHA:65759
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Olivopontocerebellar hypoplasia, Abnormal brainstem morphology, Occipital encephal... ORPHA:370959
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Split-Hand/Foot Malformation 6
Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hand oligodactyly, Split hand, Split foot OMIM:225300
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
1-4 finger syndactyly, Camptodactyly, 2-3 finger syndactyly, 3-4 finger syndactyly, 2-4 finger sy... OMIM:225280
Tubulinopathy-Associated Dysgyria
Hypoplasia of the pons, Abnormal brainstem morphology, Cerebellar vermis hypoplasia, Abnormality ... ORPHA:467166
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Hypoplasia of the brainstem, Decreased thalamic volume OMIM:613668
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly, Aplasia/Hypoplasia of toe OMIM:600384
Greig Cephalopolysyndactyly Syndrome
Postaxial foot polydactyly, Camptodactyly of toe, 3-4 finger syndactyly, Cryptorchidism, Hydrocep... OMIM:175700
Joubert Syndrome 14
Encephalocele, Agenesis of cerebellar vermis, Postaxial polydactyly, Meningocele, Hydrocephalus, ... OMIM:614424
Neural Tube Defects, Susceptibility To
Anencephaly, Spina bifida occulta, Hydrocephalus, Myelomeningocele OMIM:182940
Thoraco-Abdominal Enteric Duplication
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Joubert Syndrome 17
Molar tooth sign on MRI, Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly OMIM:614615
Brachydactyly Type B
Short distal phalanx of finger, 2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Syno... ORPHA:93383
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the ... OMIM:228930
Joubert Syndrome 3
Atrial septal defect, Elongated superior cerebellar peduncle, Lateral ventricle dilatation, Molar... OMIM:608629
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Abnormal cerebellum morphology, Abnormal acetabulum morphology, Proximal... ORPHA:397715
Orofaciodigital Syndrome Type 6
Hand polydactyly, Mesoaxial polydactyly, Preaxial polydactyly, Syndactyly, Foot polydactyly, Abno... ORPHA:2754
Joubert Syndrome With Ocular Defect
Encephalocele, Hand polydactyly, Dextrocardia, Hydrocephalus, Foot polydactyly, Molar tooth sign ... ORPHA:220493
Brachydactyly, Type B1
Camptodactyly, Aplasia/Hypoplasia of the distal phalanges of the hand, Ventricular septal defect,... OMIM:113000
Ritscher-Schinzel Syndrome 1
Adrenal hypoplasia, Hypoplastic left heart, Pulmonic stenosis, Hydrocephalus, Ventricular septal ... OMIM:220210
Brachydactyly Type B2
Short distal phalanx of finger, Finger syndactyly, Synostosis of carpal bones, Short toe, Short d... ORPHA:140908
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
3-4 finger syndactyly, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypopl... OMIM:609432
Boomerang Dysplasia
Abnormality of the humerus, Cryptorchidism, Aplasia/Hypoplasia of the fibula, Finger syndactyly, ... ORPHA:1263
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Abnormal substantia nigra morphology, Lateral ventricle dilatation ORPHA:2822
Joubert Syndrome 27
Molar tooth sign on MRI, Polydactyly OMIM:617120
Non Rare In Europe: Central Precocious Puberty
Hydrocephalus, Isosexual precocious puberty, Hypothalamic hamartoma, Increased circulating gonado... ORPHA:759
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Gordon Syndrome
Camptodactyly of finger, Finger syndactyly, Cryptorchidism, Clinodactyly of the 5th finger ORPHA:376
Breath-Holding Spells
Cyanosis OMIM:607578
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Ventricular septal defect, Rhombencephalosynapsis, Hypoplasia of the brainstem, Cerebellar hypopl... OMIM:619306
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Short neck, Spina bifida, Low posterior hairline, Congenital muscular ... ORPHA:2345
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hand polydactyly, Hydrocephalus, Foot polydactyly, Molar tooth sign on MRI, Abnorm... ORPHA:2318
Joubert Syndrome 38
Inferior cerebellar vermis hypoplasia, Small pituitary gland, Decreased response to growth hormon... OMIM:619476
Tricuspid Atresia
Cyanosis, Pulmonary artery atresia, Coarctation of aorta ORPHA:1209
Joubert Syndrome 6
Thickened superior cerebellar peduncle, Bile duct proliferation, Elongated superior cerebellar pe... OMIM:610688
Gangliocytoma
Pituitary prolactin cell adenoma, Elevated circulating growth hormone concentration, Abnormality ... ORPHA:251937
Ravine Syndrome
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Joubert Syndrome With Renal Defect
Encephalocele, Hand polydactyly, Hydrocephalus, Molar tooth sign on MRI, Agenesis of corpus callo... ORPHA:220497
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Short phalanx of finger, Split hand, Split foot OMIM:313350
Branchiogenic Deafness Syndrome
Branchial fistula, Branchial cyst ORPHA:50815
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Brachydactyly, Type B2
Short distal phalanx of finger, Absent phalangeal crease, Aplasia/Hypoplasia of the distal phalan... OMIM:611377
Proximal Symphalangism
Elbow ankylosis, Camptodactyly of finger, Abnormality of the wrist, Synostosis of carpal bones, F... ORPHA:3250
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis ORPHA:91130
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Joubert Syndrome 2
Encephalocele, Thickened superior cerebellar peduncle, Postaxial foot polydactyly, Dysgenesis of ... OMIM:608091
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst ORPHA:435938
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Narrow greater sciatic notch, Cryptorchidism, Preaxial polydactyly, Postaxial poly... OMIM:616300
Joubert Syndrome 35
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Si... OMIM:618161
Moebius Syndrome
Clinodactyly, Camptodactyly, Decreased testicular size, Syndactyly, Lower limb undergrowth, Aplas... OMIM:157900
Joubert Syndrome 37
Decreased testicular size, Cryptorchidism, Postaxial polydactyly, Molar tooth sign on MRI, Cerebe... OMIM:619185
Rhombencephalosynapsis
Agenesis of cerebellar vermis, Polydactyly, Hydrocephalus, Finger syndactyly, Complete duplicatio... ORPHA:59315
Pituitary Carcinoma
Hypopituitarism, Hyperpituitarism, Elevated circulating growth hormone concentration, Pituitary p... ORPHA:300385
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Osseous finger syndactyly, Short distal phalanx of t... ORPHA:370010
Joubert Syndrome 9
Encephalocele, Molar tooth sign on MRI OMIM:612285
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Abnormality of the anterior pituitary, Ventricular septal defect, Atrial septal defect, Intrauter... ORPHA:75389
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Camptodactyly of finger, Spina bifida, Finger syndactyly, Synosto... ORPHA:957
Alexander Disease Type I
Abnormal thalamic MRI signal intensity, Cerebellar atrophy, Hydrocephalus ORPHA:363717
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormality of femur morphology, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Abnormality... ORPHA:2141
Holt-Oram Syndrome
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Hypoplasia of t... OMIM:142900
Giant Axonal Neuropathy
Abnormality of the pituitary gland, Abnormal hand morphology, Abnormal cerebellum morphology, Tal... ORPHA:643
Subependymal Nodular Heterotopia
Meningocele, Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele ORPHA:101030
Bardet-Biedl Syndrome 4
Cryptorchidism, Hypogonadism, Polydactyly, Syndactyly, Brachydactyly OMIM:615982
Cerebellofaciodental Syndrome
Cryptorchidism, Ventricular septal defect, Hypoplasia of the pons, Slender long bone, Hypoplasia ... OMIM:616202
Aminopterin Syndrome Sine Aminopterin
Rudimentary postaxial polydactyly of hands, Cryptorchidism, Short thumb, Umbilical hernia, Syndac... OMIM:600325
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal brainstem morphology, Abnormal cerebellum morphology, Agenesis of corpus callosum ORPHA:255182
Filippi Syndrome
2-4 toe syndactyly, Cryptorchidism, Ventricular septal defect, Intrauterine growth retardation, F... OMIM:272440
3P25.3 Microdeletion Syndrome
Congenital pseudoarthrosis of the clavicle, 2-3 finger syndactyly, Pulmonic stenosis, Proximal pl... ORPHA:435638
Joubert Syndrome 31
Molar tooth sign on MRI OMIM:617761
Holoprosencephaly 5
Hydrocephalus, Lobar holoprosencephaly, Semilobar holoprosencephaly, Alobar holoprosencephaly, La... OMIM:609637
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, Abnormal brainstem morphology, Abnormal hip bone morphology, Aplasia/Hypoplasia of... ORPHA:2720
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Situs inversus totalis, Spinal dysraphism, Hydrocephalus, Meningocele, Ventricular... ORPHA:1908
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebellar cyst, Abnormal brainstem ... ORPHA:370022
Holt-Oram Syndrome
Down-sloping shoulders, Abnormality of the humerus, Absent thumb, Hypoplastic left heart, Phocome... ORPHA:392
Alkuraya-Kucinskas Syndrome
Clinodactyly, Camptodactyly, Cerebellar dysplasia, Hydrocephalus, Overlapping toe, Kinked brainst... OMIM:617822
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Increased nuchal translucency, Cystic hygroma, Atrial septal defect, Ventricular septal defect, A... ORPHA:453499
Periventricular Nodular Heterotopia 1
Short finger, Syndactyly, Bicuspid aortic valve, Cerebellar hypoplasia, Patent ductus arteriosus,... OMIM:300049
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Dysgenesis of the cerebellar vermis, Trident pelvis, Small pituitary gland, Latera... OMIM:619479
Craniorachischisis
Sirenomelia, Spinal dysraphism, Cervical spina bifida, Myelomeningocele, Anencephaly ORPHA:63260
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormality of the elbow, Humeroradial synostosis, Abnormal mor... ORPHA:2019
Cach Syndrome
T2 hypointense thalamus, Abnormal pons morphology, Atrophy/Degeneration affecting the brainstem, ... ORPHA:135
Joubert Syndrome 1
Postaxial foot polydactyly, Occipital myelomeningocele, Dysgenesis of the cerebellar vermis, Agen... OMIM:213300
Cerebellar-Facial-Dental Syndrome
Inferior cerebellar vermis hypoplasia, Cryptorchidism, Ventricular septal defect, Hypoplasia of t... ORPHA:444072
Acrofacial Dysostosis, Rodríguez Type
Aqueductal stenosis, Finger syndactyly, Intrauterine growth retardation, Abnormal pelvic girdle b... ORPHA:1788
Pfeiffer Syndrome Type 1
Hallux varus, Aqueductal stenosis, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndac... ORPHA:93258
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Hydrocephalus, Atrial septal defect, Anencephaly, Oc... OMIM:616546
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the pons, Abnormal brainstem morphology, Lateral ventricle dilatation, Agenesis of ... ORPHA:300573
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Decreased circulating free T4 concentra... OMIM:301033
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Cerebellar calcifications, Thalamic calcification OMIM:618824
Meckel Syndrome, Type 2
Encephalocele, Cystic hygroma, Meningocele, Intrauterine growth retardation, Anencephaly OMIM:603194
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
47,Xyy Syndrome
Increased serum testosterone level, Cryptorchidism, Dysgenesis of the cerebellar vermis, Cerebell... ORPHA:8
Ring Chromosome 21 Syndrome
Narrow palm, Diabetes insipidus, Holoprosencephaly, Syndactyly, Abnormal heart morphology, Small ... ORPHA:1445
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode, Intrauterine growth retardation, Thickened nuchal skin fold, Short neck ORPHA:284417
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Camptodactyly, Osteolysis involving bones of the lower limbs, Syndactyly, Osteolysis involving bo... ORPHA:88630
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Aplasia Cutis Congenita
Toe syndactyly, Spinal dysraphism, Finger syndactyly ORPHA:1114
Adult Krabbe Disease
Abnormal medulla oblongata morphology, Abnormal pons morphology, Abnormal midbrain morphology ORPHA:206448
Laurin-Sandrow Syndrome
Limb duplication, Cryptorchidism, Absent radius, Absent tibia, Hydrocephalus, Finger syndactyly, ... ORPHA:2378
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Pallister-Hall Syndrome
Oligodactyly, Y-shaped metacarpals, Hip dislocation, Ventricular septal defect, Mesoaxial foot po... OMIM:146510
Diaphanospondylodysostosis
Short neck, Myelomeningocele ORPHA:66637
Fibular Hemimelia
Oligodactyly, Short tibia, Abnormal heart morphology, Toe syndactyly, Short toe, Fibular aplasia,... ORPHA:93323
Structural Heart Defects And Renal Anomalies Syndrome
Right aortic arch, Death in infancy, Interrupted aortic arch, Cyanosis, Webbed neck, Truncus arte... OMIM:617478
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Normal pressure hydrocepha... ORPHA:300570
Meckel Syndrome, Type 1
Camptodactyly of finger, Occipital encephalocele, Cerebellar hypoplasia, Postaxial foot polydacty... OMIM:249000
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Aplasia/Hypoplasia of the cerebellar vermis, Postaxial ha... OMIM:216360
Sclerosteosis
2-3 finger syndactyly, Diaphyseal thickening, Finger syndactyly, Curved distal phalanges of the hand ORPHA:3152
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Short 5th finger, Hypoplasia of the capital femoral epiphysis, Metaph... ORPHA:557003
Terminal Osseous Dysplasia
Camptodactyly of toe, Camptodactyly of finger, Syndactyly, Short toe, Abnormal hand bone ossifica... OMIM:300244
Panhypophysitis
Abnormal thalamic MRI signal intensity, Decreased serum testosterone concentration, Adrenocortico... ORPHA:95513
Monosomy 5P
Finger syndactyly, Intrauterine growth retardation, Small hand ORPHA:281
Bor Syndrome
Branchial cyst ORPHA:107
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida OMIM:207950
X-Linked Acrogigantism
Delayed puberty, Hypopituitarism, Elevated circulating growth hormone concentration, Abnormality ... ORPHA:300373
Basal Ganglia Calcification, Idiopathic, 5
Cerebellar calcifications, Thalamic calcification OMIM:615483
Humero-Radial Synostosis
Meningocele ORPHA:3265
Pfeiffer Syndrome Type 2
Hydrocephalus, Hallux varus, Aqueductal stenosis, Finger syndactyly, Toe syndactyly, Broad thumb,... ORPHA:93259
Japanese Encephalitis
Abnormal pons morphology, Inappropriate antidiuretic hormone secretion, Abnormal substantia nigra... ORPHA:79139
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Delayed puberty, Proximal placement of thumb, Abnormality of the wrist, Finger syndactyly, Abnorm... ORPHA:1825
Non-Functioning Pituitary Adenoma
Hypopituitarism, Abnormality of the pituitary gland, Central adrenal insufficiency, Adrenocortico... ORPHA:91349
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypopituitarism, Increased circulating prolactin concentration, Decreased response to growth horm... ORPHA:91354
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Summitt Syndrome
Syndactyly OMIM:272350
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Camptodactyly of finger, Camptodactyly, Cryptorchidism, Ventricul... OMIM:300963
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus, Syndactyly OMIM:215850
Mesomelic Dysplasia, Nievergelt Type
Camptodactyly of finger, Abnormality of fibula morphology, Genu varum, Finger syndactyly, Abnorma... ORPHA:2633
Summitt Syndrome
Camptodactyly of finger, Finger syndactyly, Short 4th metacarpal, Brachydactyly, Short palm, Genu... ORPHA:3210
Eosinophilic Fasciitis
Muscular edema, Edema, Acrocyanosis ORPHA:3165
6P22 Microdeletion Syndrome
Clinodactyly, Finger syndactyly, Patent ductus arteriosus, Hydrocephalus ORPHA:251046
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Postaxial foot polydactyly, Cryptorchidism, Postaxial polydactyly, Ventricular septal defect, Abn... ORPHA:404440
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology, Abnormality of thalamus m... ORPHA:88619
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Camptodactyly of finger, Short thumb, Finger syndactyly, Palmoplantar keratoderma, Triphalangeal ... ORPHA:2251
Tibial Aplasia-Ectrodactyly Syndrome
Patellar aplasia, Abnormality of fibula morphology, Ectrodactyly, Finger syndactyly, Short femur,... ORPHA:3329
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Agenesis of cerebellar vermis, Hydrocephalus, Abnormal brainstem morphology, Dandy-Walker malform... ORPHA:163961
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pulmonary edema, Hypoxemia ORPHA:70587
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Atrial septal defect, Spina bifida, Atrioventricular canal defect, Bicuspid aortic valve, Patent ... ORPHA:1120
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity, Abnormal brainstem MRI signal intensity, Left ventricular... ORPHA:444013
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology ORPHA:411493
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Syndactyly, Clinodactyly of the 5th finger, Tapered finger OMIM:618725
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Czeizel-Losonci Syndrome
2-3 finger syndactyly, 3-4 finger syndactyly, Dextrocardia, Myelomeningocele, Spina bifida, Hydro... ORPHA:2437
Charlie M Syndrome
Finger syndactyly, Abnormal metacarpal morphology, Triphalangeal thumb, Split hand, Brachydactyly ORPHA:1406
Branchiootorenal Syndrome 1
Branchial fistula, Branchial cyst OMIM:113650
Fatco Syndrome
Absent hand, Abnormality of fibula morphology, Finger syndactyly, Abnormality of tibia morphology... ORPHA:2492
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Clinodactyly, Syndactyly, Brachydactyly OMIM:610023
Holoprosencephaly
Encephalocele, Spinal dysraphism, Abnormal pulmonary valve morphology, Hydrocephalus, Tetralogy o... ORPHA:2162
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Syndactyly, Polydactyly, Hydrocephalus OMIM:602501
Restrictive Dermopathy 2
Cyanosis, Intrauterine growth retardation OMIM:619793
Combined Oxidative Phosphorylation Deficiency 51
Intrauterine growth retardation, Focal T2 hyperintense thalamic lesion OMIM:619057
Congenitally Uncorrected Transposition Of The Great Arteries
Coarctation of aorta, Hypoplastic aortic arch, Hypoxemia, Interrupted aortic arch, Abnormal aorti... ORPHA:860
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Adenohypophysitis
Abnormal thalamic MRI signal intensity, Decreased serum testosterone concentration, Adrenocortico... ORPHA:95512
Grange Syndrome
Patent ductus arteriosus, Syndactyly, Short palm, Ventricular septal defect ORPHA:79094
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Growth delay OMIM:250800
Idiopathic Congenital Hypothyroidism
Umbilical hernia, Abnormal epiphysis morphology, Decreased circulating T4 concentration, Delayed ... ORPHA:95717
Tibial Hemimelia
Oligodactyly, Hip dislocation, Hip dysplasia, Polydactyly, Short tibia, Cutaneous finger syndacty... ORPHA:93322
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Isolated Osteopoikilosis
Abnormal long bone morphology, Abnormality of limb bone, Abnormal pelvis bone morphology, Syndact... ORPHA:166119
Primary Pulmonary Hypoplasia
Cyanosis, Hypoxemia, Intrauterine growth retardation, Abnormal pulmonary artery morphology ORPHA:2257
Hypothyroidism, Central, With Testicular Enlargement
Reduced circulating prolactin concentration, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:300888
Pfeiffer Syndrome
Elbow ankylosis, Hydrocephalus, Finger syndactyly, Syndactyly, Shortening of all middle phalanges... OMIM:101600
Weaver Syndrome
Camptodactyly of finger, Cryptorchidism, Abnormal metaphysis morphology, Finger syndactyly, Broad... ORPHA:3447
Poland Syndrome
Dextrocardia, Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoi... OMIM:173800
Functioning Gonadotropic Adenoma
Delayed puberty, Increased serum testosterone level, Hydrocephalus, Isosexual precocious puberty,... ORPHA:91348
Buerger Disease
Acrocyanosis ORPHA:36258
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Cryptorchidism, Ventricular septal defect, Overlapping toe, Atrial septal defect, Tetralogy of Fa... OMIM:618316
Silver-Russell Syndrome 1
Testicular seminoma, Syndactyly, Intrauterine growth retardation, Decreased response to growth ho... OMIM:180860
Acute Interstitial Pneumonia
Hypoxemia, Pericardial effusion, Cyanosis, Pleural effusion, Peripheral edema ORPHA:79126
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test OMIM:615925
Coasy Protein-Associated Neurodegeneration
Abnormality of thalamus morphology ORPHA:397725
Epidermolysis Bullosa, Lethal Acantholytic
Mitten deformity, Widely spaced toes, Syndactyly, Neonatal death, Natal tooth, Sandal gap, Tapere... OMIM:609638
Double Outlet Right Ventricle
Pulmonary artery atresia, Coarctation of aorta, Short stature, Cyanosis, Truncus arteriosus ORPHA:3426
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Cardiomegaly, Syndactyly OMIM:613576
Aprosencephaly And Cerebellar Dysgenesis
Cerebellar dysplasia, Absent mesencephalon, Aprosencephaly, Talipes equinovarus, Poorly formed me... OMIM:601374
Hypomelanosis Of Ito
Clinodactyly, Hand polydactyly, Syndactyly, Radial deviation of finger OMIM:300337
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Goiter, Diabetes mellitus, Compensated hypothyroidism, Impaired sensitivity to thyroid hormone, E... OMIM:274300
Sirenomelia
Sirenomelia, Spina bifida ORPHA:3169
Asbestos Intoxication
Cyanosis, Hypoxemia, Oxygen desaturation on exertion, Edema ORPHA:2302
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon, Radial club hand, Holoprosencephaly, Abnormal morphology of the ... ORPHA:2165
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Delayed puberty, Cryptorchidism, Decreased serum ... OMIM:305400
Oligomeganephronia
Secundum atrial septal defect, Branchial cyst ORPHA:2260
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Epiphyseal stippling, Single transverse palmar crease, Hypoplastic pelvis, Aplasia of the distal ... OMIM:308050
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Overriding aorta, Patent ductus arteriosus ORPHA:3304
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Familial Thyroid Dyshormonogenesis
Goiter, Umbilical hernia, Positive perchlorate discharge test, Abnormal epiphysis morphology, Dec... ORPHA:95716
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Atrial septal defect, Syndactyly, Stillbirth, Duplication of phalanx o... OMIM:263630
Acrodysostosis 1 With Or Without Hormone Resistance
Elevated circulating parathyroid hormone level, Short metatarsal, Elevated circulating thyroid-st... OMIM:101800
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI, Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:617563
Orofaciodigital Syndrome Type 14
Postaxial foot polydactyly, Partial agenesis of the corpus callosum, Ventricular septal defect, D... ORPHA:434179
Limb-Mammary Syndrome
Camptodactyly, Hallux valgus, Hypoplastic nipples, Syndactyly, Joint contracture of the hand, Spl... OMIM:603543
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Delayed puberty, Short distal phalanx of finger, Camptodactyly of finger, Finger syndactyly, Hypo... ORPHA:2994
Bohring-Opitz Syndrome
Ulnar deviation of the wrist, Camptodactyly, Ventricular septal defect, Overlapping toe, Supernum... OMIM:605039
Laurin-Sandrow Syndrome
Patellar aplasia, Hand polydactyly, Absent radius, Absent tibia, Syndactyly, Triphalangeal thumb,... OMIM:135750
Triploidy
Hydrocephalus, Meningocele, Short neck, Holoprosencephaly, Intrauterine growth retardation, Abnor... ORPHA:3376
Hypothyroidism, Congenital, Nongoitrous, 4
Umbilical hernia, Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentra... OMIM:275100
3C Syndrome
Adrenal hypoplasia, Hand polydactyly, Hypoplastic left heart, Pulmonic stenosis, Hydrocephalus, V... ORPHA:7
Laurence-Moon Syndrome
Hand polydactyly, Cryptorchidism, Finger syndactyly, Type II diabetes mellitus, Bilateral single ... ORPHA:2377
Endocrine-Cerebroosteodysplasia
Adrenal hypoplasia, Cryptorchidism, Preaxial polydactyly, Postaxial polydactyly, Ulnar deviation ... OMIM:612651
Camptobrachydactyly
Camptodactyly of finger, Ulnar deviation of finger, Finger syndactyly, Aplasia/Hypoplasia of the ... ORPHA:1319
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Short tibia, Syndactyly, Abnormality of the hand, Fibular aplasia, Hand oligod... OMIM:246570
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Lipomyelomeningocele, Limitation of neck motion, Occipital meningocel... ORPHA:268810
Temtamy Preaxial Brachydactyly Syndrome
Short metatarsal, Syndactyly, Short metacarpal, Carpal synostosis, Radioulnar synostosis, Clinoda... OMIM:605282
Acrootoocular Syndrome
Short finger, Small thenar eminence, Decreased palmar creases, Short metacarpal, Small hypothenar... ORPHA:2980
Thrombocytopenia-Absent Radius Syndrome
Hip dislocation, Absent radius, Genu varum, Phocomelia, Tetralogy of Fallot, Abnormal cardiac sep... ORPHA:3320
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis OMIM:263000
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Prominent protruding coccyx, Hydranencephaly, Aplasia/Hypoplasia of the ... ORPHA:2839
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Increased nuchal translucency, Cystic hygroma, Atrial septal defect, Ventricular septal defect, A... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Increased nuchal translucency, Cystic hygroma, Atrial septal defect, Ventricular septal defect, A... ORPHA:352665
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Cryptorchidism, Aplasia of the proximal phalanges of the hand, Ventricular septal defect, Aplasia... ORPHA:2256
Thrombocytopenia-Absent Radius Syndrome
Hip dislocation, Short thumb, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallo... OMIM:274000
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Pulmonary edema, Pericardial effusion, Cyanosis, Pleural effusion, Pedal edema ORPHA:199241
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion, Hypergonadotropic hypogonadism OMIM:613724
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Branchial fistula, Intrauterine growth retardati... ORPHA:261330
Congenital Disorder Of Deglycosylation 2
Partial agenesis of the corpus callosum, Bilateral talipes equinovarus, Ulnar deviation of the ha... OMIM:619775
Pallister-Hall Syndrome
Oligodactyly, Hypopituitarism, Hip dislocation, Mesoaxial polydactyly, Ventricular septal defect,... ORPHA:672
Orofaciodigital Syndrome Xiv
Cryptorchidism, Partial agenesis of the corpus callosum, Preaxial polydactyly, Ventricular septal... OMIM:615948
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Atrial septal defect, Hyperinsuli... OMIM:620211
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypopituitarism, Delayed proximal femoral epiphyseal ossification, Abnormal cerebellum morphology... ORPHA:226307
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum, Hypertrophic cardiomyopathy ORPHA:79279
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Supernumerary nipple, Finger syndactyly, Abnormal metacarpal morphology, Toe syndactyly, Short ha... ORPHA:3224
Short Rib-Polydactyly Syndrome
Situs inversus totalis, Abnormal long bone morphology, Polydactyly, Short tibia, Abnormal heart m... ORPHA:1505
Endove Syndrome, Limb-Only Type
3-4 finger syndactyly, Triangular tibia, Umbilical hernia, Disproportionate shortening of the tib... OMIM:619217
Cutis Laxa, Autosomal Recessive, Type Iie
Hip dislocation, Genu varum, Syndactyly, Deep palmar crease, Clinodactyly of the 5th finger, Brac... OMIM:619451
Encephalopathy, Ethylmalonic
Petechiae, Death in infancy, Acrocyanosis OMIM:602473
Aarskog-Scott Syndrome
Camptodactyly of finger, Cryptorchidism, Umbilical hernia, Finger syndactyly, Broad palm, Short p... ORPHA:915
Acrocardiofacial Syndrome
Camptodactyly of finger, Cryptorchidism, Hallux valgus, Ventricular septal defect, Atrial septal ... ORPHA:2008
Post-Traumatic Pituitary Deficiency
Delayed puberty, Decreased testicular size, Decreased response to growth hormone stimulation test... ORPHA:95619
Joubert Syndrome 8
Molar tooth sign on MRI, Occipital encephalocele OMIM:612291
Pituitary Hormone Deficiency, Combined, 2
Reduced circulating growth hormone concentration, Abnormal circulating adrenocorticotropin concen... OMIM:262600
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Intellectual Developmental Disorder, Autosomal Dominant 4
Short toe, Syndactyly OMIM:612581
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
2-3 finger syndactyly, Subvalvular aortic stenosis, Complete atrioventricular canal defect, Posta... OMIM:217085
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Secundum atrial septal defect, Ventricular septal defect, Atrial septal defect, Perimembranous ve... OMIM:600987
Allan-Herndon-Dudley Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hallux valgus, Hypothyroidism OMIM:300523
Arima Syndrome
Postaxial foot polydactyly, Agenesis of cerebellar vermis, Brainstem dysplasia, Occipital meningo... OMIM:243910
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Increased nuchal translucency, Edema, Facial edema, Pulmonary edema, L... OMIM:617300
Neurodevelopmental Disorder With Language Delay And Seizures
Hypothyroidism, Ventricular septal defect, Cryptorchidism, Hypothalamic hamartoma OMIM:619908
Craniofrontonasal Dysplasia
Congenital pseudoarthrosis of the clavicle, Down-sloping shoulders, Camptodactyly of finger, Hand... ORPHA:1520
Pfeiffer Syndrome Type 3
Hallux varus, Aqueductal stenosis, Finger syndactyly, Toe syndactyly, Broad thumb, Short hallux, ... ORPHA:93260
Absence Of The Pulmonary Artery
Coarctation of aorta, Right aortic arch, Pulmonary edema, Hypocapnia, Patent ductus arteriosus, G... ORPHA:980
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hand polydactyly, Hydrocephalus, Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the cer... ORPHA:60040
Tarp Syndrome
Bilateral talipes equinovarus, Postaxial polydactyly, Atrial septal defect, Tetralogy of Fallot, ... OMIM:311900
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Bardet-Biedl Syndrome 9
Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Syndactyly, Postaxial hand polyda... OMIM:615986
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Thalamic calcification OMIM:618317
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Goiter, Umbilical hernia, Abnormal epiphysis morphology, Decreased circulating T4 concentration, ... ORPHA:226313
Apert Syndrome
Ventricular septal defect, Broad thumb, Cerebellar hypoplasia, Preaxial hand polydactyly, Cutaneo... OMIM:101200
Camptodactyly Syndrome, Guadalajara Type 1
Abnormality of dental eruption, Intrauterine growth retardation, Spina bifida ORPHA:1327
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Loss of Purkinje cells in the c... ORPHA:98755
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Cryptorchidism, Proximal placement of thumb, Cardiomyopathy, Syndactyly, Short palm, Cerebellar h... OMIM:217980
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Silver-Russell Syndrome Due To A Point Mutation
Cryptorchidism, Polydactyly, Ectrodactyly, Syndactyly, Intrauterine growth retardation, Small pla... ORPHA:397590
Rubinstein-Taybi Syndrome 2
Syndactyly, Broad thumb, Prominent fingertip pads, Broad hallux, Short first metatarsal, Short 5t... OMIM:613684
Bdv Syndrome
Delayed puberty, Cryptorchidism, Reduced TSH response to thyrotrophin-releasing hormone stimulati... OMIM:619326
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Camptodactyly, Cryptorchidism, Ventricular septal defect, Umbilical hernia, Syndactyly, Abnormali... ORPHA:369891
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus OMIM:618193
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Camptodactyly, Small thenar eminence, Cryptorchidism, Short thumb, Pulmonic stenos... OMIM:619148
Microphthalmia With Limb Anomalies
Hip dislocation, Short tibia, Abnormality of the upper limb, Toe syndactyly, Broad thumb, Bilater... ORPHA:1106
Distal 22Q11.2 Microduplication Syndrome
Ventricular septal defect, Hydrocephalus, Tricuspid valve prolapse, Low posterior hairline, Branc... ORPHA:261337
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98913
Isolated Right Ventricular Hypoplasia
Cyanosis, Hypoxemia, Pedal edema ORPHA:439
Mohr Syndrome
Partial duplication of the phalanges of the hallux, Postaxial foot polydactyly, Hydrocephalus, Sy... OMIM:252100
Autosomal Recessive Spondylocostal Dysostosis
Short neck, Meningocele, Umbilical hernia, Intrauterine growth retardation, Spina bifida occulta,... ORPHA:2311
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary artery atresia, Coarcta... ORPHA:99050
White Forelock With Malformations
Atrial septal defect, Finger syndactyly, Spina bifida occulta, Clinodactyly of the 5th finger ORPHA:2475
Adams-Oliver Syndrome 6
Foot oligodactyly, Ventricular septal defect, Syndactyly, Truncus arteriosus, Brachydactyly OMIM:616589
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Syndactyly, Testicular atrophy, Clinodactyly of the 5th finger OMIM:601163
Kallmann Syndrome-Heart Disease Syndrome
Delayed puberty, Right aortic arch, Short stature, Pulmonary artery hypoplasia, Growth delay, Cya... ORPHA:2326
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Hand polydactyly, Congenital hip dislocation, Cryptorchidism, Hyd... ORPHA:1647
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Clinodactyly, Syndactyly OMIM:619091
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Syndactyly, Intrauterine growth retardation, Hypoplasia of the brainstem, Clinodac... ORPHA:2169
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Anterior pituitary hypoplasia, Central hypothyroidism, Abnormal thyroi... OMIM:616113
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Cranioectodermal Dysplasia
Short distal phalanx of finger, Abnormal metaphysis morphology, Abnormal diaphysis morphology, Fi... ORPHA:1515
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Broad thumb, Abnormality of thumb phalanx, Preaxial hand polyd... ORPHA:1553
19P13.12 Microdeletion Syndrome
Cryptorchidism, Precocious puberty, Ventricular septal defect, Atrial septal defect, Finger synda... ORPHA:254346
Neuroferritinopathy
Iron accumulation in substantia nigra, Abnormal thalamic MRI signal intensity, T2 hypointense tha... ORPHA:157846
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Pituitary Deficiency Due To Rathke Cleft Cysts
Hypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Increased circulating prola... ORPHA:91350
Cerebrocostomandibular Syndrome
Myelomeningocele, Meningocele, Hydranencephaly, Spina bifida, Ventricular septal defect, Intraute... ORPHA:1393
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus, Cerebellar atrophy ORPHA:1947
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Death in infancy, Neonatal death OMIM:265120
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Delayed puberty, Ulnar deviation of the hand, Central adrenal insufficiency, Small pituitary glan... OMIM:612079
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Delayed puberty, Increased circulating prolactin concentration, Central hypothyroidism, Decreased... ORPHA:293987
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Growth delay OMIM:614407
Acquired Methemoglobinemia
Cyanosis, Hypoxemia ORPHA:464453
Pseudohypoparathyroidism, Type Ic
Hypogonadism, Elevated circulating parathyroid hormone level, Short metatarsal, Pseudohypoparathy... OMIM:612462
Dravet Syndrome
Cyanotic episode, Limited neck range of motion ORPHA:33069
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Goiter, Umbilical hernia, Decreased circulating T4 concentration, Decreased thyroid-stimulating h... ORPHA:95715
Verloove Vanhorick-Brubakk Syndrome
Cryptorchidism, Abnormality of the parathyroid gland, Finger syndactyly, Abnormal metacarpal morp... ORPHA:3429
Microphthalmia With Brain And Digit Anomalies
Postaxial foot polydactyly, Cryptorchidism, Inferior cerebellar vermis hypoplasia, Proximal place... ORPHA:139471
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Focal T2 hyperintense thalamic lesion, Abnormal heart morphology ORPHA:79264
Fg Syndrome Type 1
Single transverse palmar crease, Cryptorchidism, Clinodactyly of the 2nd finger, Hydrocephalus, A... ORPHA:93932
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Small pituitary gland, Genu valgum OMIM:614880
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Congenital Fibrinogen Deficiency
Cyanosis, Subcutaneous hemorrhage, Bruising susceptibility ORPHA:335
Cenani-Lenz Syndactyly Syndrome
Pulmonic stenosis, Syndactyly, Radioulnar synostosis, Broad hallux, Hypoplasia of the ulna, Metac... OMIM:212780
Congenital Tricuspid Valve Dysplasia
Cyanosis, Hypoxemia, Intrauterine growth retardation, Pericardial effusion ORPHA:555874
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Oligodactyly, Camptodactyly, 3-4 finger syndactyly, Absent tibia, Absent toe, Short tibia, Finger... OMIM:612576
Filippi Syndrome
Enlarged epiphyses, Clinodactyly of the 5th toe, Cryptorchidism, Ventricular septal defect, Super... ORPHA:3255
Tetrasomy 5P
Cyanosis, Postnatal growth retardation, Redundant neck skin, Short neck ORPHA:3309
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Clinodactyly, Arachnodactyly, Syndactyly OMIM:619092
Thyroid Hormone Resistance, Selective Pituitary
Elevated circulating thyroid-stimulating hormone concentration, Hyperthyroidism, Impaired sensiti... OMIM:145650
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Clinodactyly, Cerebellar vermis atrophy, Syndactyly, Cerebellar hypoplasia OMIM:618087
Cryptogenic Organizing Pneumonia
Cyanosis, Hypoxemia ORPHA:1302
Leigh Syndrome With Cardiomyopathy