Gene Summary

Name:
SUFU negative regulator of hedgehog signaling
Synonyms:
Su(Fu),  2810026F04Rik,  b2b273Clo

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
abnormal embryo size Sufutm1b(KOMP)Wtsi HOM E9.5 0.00
pale liver Sufutm1b(KOMP)Wtsi HOM E12.5 0.00
embryonic growth retardation Sufutm1b(KOMP)Wtsi HOM E9.5 0.00
enlarged lymph nodes Sufutm1b(KOMP)Wtsi HET Early adult 0.00
abnormal eye morphology Sufutm1b(KOMP)Wtsi HOM E12.5 0.00
abnormal limb bud morphology Sufutm1b(KOMP)Wtsi HOM E12.5 0.00
abnormal embryo size Sufutm1b(KOMP)Wtsi HOM E12.5 0.00
increased startle reflex Sufutm1b(KOMP)Wtsi HET Early adult 2.13×10-05
preweaning lethality, complete penetrance Sufutm1b(KOMP)Wtsi HOM   Early adult 0.00
decreased total body fat amount Sufutm1b(KOMP)Wtsi HET Early adult 4.92×10-05
abnormal placenta size Sufutm1b(KOMP)Wtsi HOM E12.5 0.00
cardiovascular system phenotype Sufutm1b(KOMP)Wtsi HET Early adult 4.90×10-05
abnormal hindbrain development Sufutm1b(KOMP)Wtsi HOM E9.5 0.00
embryonic lethality prior to tooth bud stage Sufutm1b(KOMP)Wtsi HOM   E12.5 0.00
pallor Sufutm1b(KOMP)Wtsi HOM E12.5 0.00
abnormal liver size Sufutm1b(KOMP)Wtsi HOM E12.5 0.00
abnormal midbrain development Sufutm1b(KOMP)Wtsi HOM E9.5 0.00
abnormal stomach morphology Sufutm1b(KOMP)Wtsi HET Early adult 0.00
abnormal neural tube closure Sufutm1b(KOMP)Wtsi HOM E9.5 0.00
abnormal forebrain development Sufutm1b(KOMP)Wtsi HOM E9.5 0.00
pale yolk sac Sufutm1b(KOMP)Wtsi HOM E12.5 0.00

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 50% (1 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Esophagus N/A heterozygote 50% (1 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote 100% (2 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)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 50% (1 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 33.33% (2 of 6)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 33.33% (2 of 6)
Embryo N/A heterozygote 33.33% (2 of 6)
Eye N/A heterozygote 33.33% (2 of 6)
Footplate N/A heterozygote 33.33% (2 of 6)
Forebrain N/A heterozygote 33.33% (2 of 6)
Forelimb N/A heterozygote 33.33% (2 of 6)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 33.33% (2 of 6)
Head N/A heterozygote 33.33% (2 of 6)
Heart N/A heterozygote 33.33% (2 of 6)
Hindbrain N/A heterozygote 33.33% (2 of 6)
Hindlimb N/A heterozygote 33.33% (2 of 6)
Liver N/A heterozygote 33.33% (2 of 6)
Lung N/A heterozygote 33.33% (2 of 6)
Mandibular process N/A heterozygote 33.33% (2 of 6)
Maxillary process N/A heterozygote 33.33% (2 of 6)
Midbrain N/A heterozygote 33.33% (2 of 6)
Nose N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 33.33% (2 of 6)
Chorioallantoic placenta N/A heterozygote 0.0% (0 of 2)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 33.33% (2 of 6)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 33.33% (2 of 6)
Tail N/A heterozygote 33.33% (2 of 6)
Trachea N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
placenta Ambiguous
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
trachea Ambiguous
urinary system Ambiguous

Associated Images

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

Adult LacZ

LacZ Images Section

20 Images

Embryo LacZ

LacZ images wholemount

24 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

3 Images

Human diseases caused by Sufu 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 Sufu by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Alopecia Areata 2
Alopecia totalis, Alopecia universalis, Alopecia of scalp, Patchy alopecia OMIM:610753
Graham Little-Piccardi-Lassueur Syndrome
Perifollicular hyperkeratosis, Sparse scalp hair, Sparse pubic hair, Sparse axillary hair, Alopecia ORPHA:505
Alopecia Universalis Congenita
Absent pubic hair, Absent eyelashes, Absent eyebrow, Absent axillary hair, Alopecia universalis OMIM:203655
Hypotrichosis Simplex
Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Alopecia ORPHA:55654
Hypotrichosis 4
Uncombable hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Alopecia OMIM:146550
Alopecia Areata 1
Patchy alopecia, Nail pits, Trachyonychia, Alopecia totalis, Alopecia universalis OMIM:104000
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Hypotrichosis 11
Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Sparse hair, Absent axillary hair,... OMIM:615059
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia of scalp, Onychogryposis of toenails, Diffuse palmoplantar hyperkeratosis, Dystrophic to... OMIM:617294
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Miller-Dieker syndrome (MDS)
Microcephaly, Lissencephaly, Abnormal heart morphology, Frontal bossing DECIPHER:21
Odonto-Onycho Dysplasia-Alopecia Syndrome
Abnormal fingernail morphology, Sparse body hair, Sparse eyebrow, Sparse hair, Hypoplastic toenai... ORPHA:2722
Genitopalatocardiac Syndrome
Transposition of the great arteries, Right aortic arch, Cleft upper lip, Micrognathia, Cleft pala... OMIM:231060
Trichodysplasia-Xeroderma Syndrome
Trichorrhexis nodosa, Coarse hair, Brittle hair, Sparse scalp hair, Dry skin, Sparse body hair, S... ORPHA:3361
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia OMIM:614928
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Alopecia OMIM:260910
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot OMIM:601127
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Pierre Robin Syndrome
Glossoptosis, Micrognathia, Pierre-Robin sequence, Cleft palate, Cor pulmonale OMIM:261800
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Patent ductus arteriosus, Coronary artery fistula, Patent foramen ovale, Ve... OMIM:619343
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Nail dystrophy, Plantar hyperkeratosis, Alopecia OMIM:616487
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart OMIM:614474
Palmoplantar Keratoderma And Congenital Alopecia 1
Nail dysplasia, Leukonychia, Hyperpigmentation of the skin, Brittle hair, Sparse eyebrow, Palmopl... OMIM:104100
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Small nail, Generalized hypotrichosis, Sparse axillary hair, Sparse hair, Fine ha... ORPHA:189
Monilethrix
Perifollicular hyperkeratosis, Nail dysplasia, Nail dystrophy, Brittle hair, Abnormality of hair ... OMIM:158000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Nail pits, Congenital alopecia totalis, Ridged nail ORPHA:169095
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Isolated Dandy-Walker Malformation
Prominent occiput, Dandy-Walker malformation, Frontal bossing, Cleft palate, Tetralogy of Fallot,... ORPHA:217
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dysplasia, Nail dystrophy, Facial erythema, Hyperkeratosis, Dry skin, Palmoplantar hyperkera... OMIM:212360
Ferguson-Bonni Neurodevelopmental Syndrome
Patent foramen ovale, Micrognathia, High palate, Coronary-pulmonary artery fistula OMIM:619699
Parc Syndrome
Alopecia, Absent eyelashes, Absent eyebrow OMIM:600331
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta OMIM:212090
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Hypermelanotic macule, Nail dystrophy, Alopecia, Mixed hypo- and hyperpigmentatio... ORPHA:79397
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
High palate, Persistent left superior vena cava, Pulmonic stenosis, Microcephaly, Micrognathia, T... ORPHA:3304
Hypotrichosis 1
Abnormality of the nail, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse pubic hair, S... OMIM:605389
Birk-Aharoni Syndrome
Microcephaly, Dolichocephaly, Micrognathia, Muscular ventricular septal defect OMIM:620071
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu... OMIM:617912
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Thumb Deformity And Alopecia
Increased groin pigmentation with raindrop depigmentation, Alopecia OMIM:188150
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Macrocephaly, Muscular ventricular septal defect, Notched primary central incisor, Microcephaly OMIM:620062
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Cerebral berry aneurysm, Arterial fi... OMIM:618734
L-Ferritin Deficiency
Alopecia OMIM:615604
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Abnormal aortic arch morphology, Mandibular prognathia, Narrow mouth,... ORPHA:1110
Syndactyly, Type Iv
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... OMIM:186200
Erythrokeratodermia Variabilis Et Progressiva 2
Palmoplantar keratoderma, Erythema, Hypertrichosis OMIM:617524
Tietz Syndrome
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... ORPHA:42665
Marie Unna Hereditary Hypotrichosis
Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Al... ORPHA:444
Recombinant Chromosome 8 Syndrome
Cerebral atrophy, Secondary microcephaly, Brachycephaly, Thick lower lip vermilion, Gingival over... OMIM:179613
Quinquaud Folliculitis Decalvans
Patchy alopecia, Abnormal hair morphology, Erythema, Scarring alopecia of scalp ORPHA:346
Synpolydactyly 1
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... OMIM:186000
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, Short 2nd finger, Microcephaly, Cleft upper lip, Coarct... OMIM:600987
Ritscher-Schinzel Syndrome 1
Brachycephaly, Prominent occiput, Dandy-Walker malformation, Missing ribs, Anal atresia, Pulmonic... OMIM:220210
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal hair morphology, Dry skin, Abnormal fingernail morphology, Abnormal toenail morphology, ... ORPHA:248
Chromosome 15Q25 Deletion Syndrome
Hypoplasia of the corpus callosum, Thin vermilion border, Dextrocardia, Coronary artery fistula, ... OMIM:614294
Sandestig-Stefanova Syndrome
Hypoplasia of the corpus callosum, Retrognathia, Perimembranous ventricular septal defect, Muscul... OMIM:618804
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl... OMIM:174500
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar... OMIM:613854
Coronary Artery Dissection, Spontaneous
Coronary artery dissection, Cystic medial necrosis OMIM:122455
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Plagiocephaly, Short philtrum, Mandibular prognathia, Ectopic anus, Aplasia/Hypoplasia of the dis... ORPHA:94066
Ectodermal Dysplasia 4, Hair/Nail Type
Nail dystrophy, Brittle hair, Abnormal sweat gland morphology, Absent eyelashes, Absent eyebrow, ... OMIM:602032
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Periventricular leukomalacia, Perimembranous ventricular septal defect, Microcephaly OMIM:619170
Houge-Janssens Syndrome 3
Hypoplasia of the corpus callosum, Plagiocephaly, Muscular ventricular septal defect, Macrocephal... OMIM:618354
Candidiasis, Familial, 1
Alopecia OMIM:114580
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, ... OMIM:615779
Anonychia With Flexural Pigmentation
Hypermelanotic macule, Alopecia of scalp, Abnormal hair morphology, Hyperkeratosis, Anonychia, Ax... ORPHA:69125
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aortic arch, Abnormal left ve... ORPHA:1457
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Coronary artery fistula, Cerebra... OMIM:620024
Angioma Serpiginosum, X-Linked
Hyperkeratosis, Nail dystrophy, Fine hair, Sparse hair OMIM:300652
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Scaling skin, Alopecia of scalp, Generalized hyperkeratosis, Absent pubic hair, Dry skin, Cutis l... ORPHA:2269
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Stillbirth, Abnormal hip bone morphology, Abnormal lung morphology, Upper limb phoco... ORPHA:294975
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Nail pits, Nail dystrophy, Ridged nail, Alopecia OMIM:601705
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum, Retrognathia, Perimembranous ventricular septal defect, Muscular vent... ORPHA:363444
Monilethrix
Brittle hair, Abnormality of the nail, Slow-growing hair, Abnormal eyelash morphology, Patchy alo... ORPHA:573
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Trichodysplasia, Alopecia of scalp ORPHA:79129
Lowry-Maclean Syndrome
Delayed eruption of teeth, Microcephaly, Abnormal heart morphology, Cleft palate, Craniosynostosis OMIM:600252
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Melanocytic nevus, Alopecia uni... ORPHA:1008
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Moynahan Syndrome
Hyperkeratosis, Sparse hair, Alopecia ORPHA:2574
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Vascular ring, Patent ductus arteriosus, Overriding aorta, Atrial septal defect, Ventricular sept... OMIM:601927
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum, Perimembranous ventricular septal defect, Hypertrophic cardiomyopathy... OMIM:620135
Pili Torti
Brittle hair, Abnormality of the nail, Abnormality of hair texture, Abnormal eyebrow morphology, ... ORPHA:2889
Hypotrichosis 5
Absent pubic hair, Abnormality of the nail, Abnormal sweat gland morphology, Sparse eyelashes, Th... OMIM:612841
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Mmep Syndrome
Orofacial cleft, Mandibular prognathia, Microcephaly, Ventricular septal defect, Median cleft upp... ORPHA:3434
Bullous Dystrophy, Hereditary Macular Type
Abnormality of the nail, Alopecia totalis, Hyperpigmentation of the skin OMIM:302000
Snijders Blok-Campeau Syndrome
Perimembranous ventricular septal defect, Thin corpus callosum, Macrocephaly, Widely spaced teeth... OMIM:618205
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Mandibular prognathia, Microcephaly, Abnormal mitral valve morphol... ORPHA:1919
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Keratoderma Hereditarium Mutilans With Ichthyosis
Parakeratosis, Nail dystrophy, Alopecia, Hyperkeratosis, Scaling skin on fingertip, Honeycomb pal... ORPHA:79395
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Fetal Trimethadione Syndrome
Brachycephaly, Transposition of the great arteries, High palate, Microcephaly, Micrognathia, Tetr... ORPHA:1913
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Broa... OMIM:174200
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ... OMIM:217095
Hypotrichosis 6
Erythema, Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti, Follicular hyp... OMIM:607903
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect OMIM:620203
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Transposition of the great arteries, 11 pairs of ribs, ... OMIM:617877
Internal Carotid Absence
Subarachnoid hemorrhage, Cerebral ischemia, Dilatation of the cerebral artery ORPHA:981
Pili Torti-Onychodysplasia Syndrome
Nail dystrophy, Trichodysplasia, Brittle hair, Absent eyelashes, Dry skin, Absent eyebrow, Sparse... ORPHA:2890
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Hypopigmented skin patches, Hyperpigmentation of the skin, Onychogryposis of fingernail, Fingerna... ORPHA:2251
Tooth Agenesis, Selective, 8
Sparse eyebrow, Dry skin, Sparse hair OMIM:617073
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Frontal bossing, Micrognathia, Pierre-Robin sequence, Cleft palate, Short distal ph... OMIM:311895
Nemaline Myopathy 9
Micrognathia, Ventricular septal defect, High palate, Cleft palate OMIM:615731
Crandall Syndrome
Brittle hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Fine hair, Pili torti, Alopecia ORPHA:202
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Coarctation of aorta, Dolichocephaly, Tetralogy of Fallot, C... ORPHA:261243
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Long philtrum, Aortic aneurysm, Patent foramen ovale, Persistent left superior vena cava, Abnorma... ORPHA:477817
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal lower lip morphology, Abnormal aortic morphology, Tooth agenesis, Microcephaly, Cerebral... ORPHA:1166
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Porencephalic cyst, Tetralogy of Fallot, Agenesis of cerebellar vermis, C... OMIM:601322
Kerion Celsi
Alopecia ORPHA:499
Erythrokeratodermia Variabilis
Irregular hyperpigmentation, Hypermelanotic macule, Abnormal hair morphology, Abnormality of the ... ORPHA:317
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Aortic aneurysm, Cerebellar vermis hypoplasia, High palate, Multiple muscular ventricular septal ... OMIM:620070
Camptosynpolydactyly, Complex
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly OMIM:607539
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P... OMIM:618167
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Olmsted Syndrome, X-Linked
Parakeratosis, Subungual hyperkeratosis, Hyperkeratosis, Alopecia totalis, Palmoplantar hyperkera... OMIM:300918
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Familial Cervical Artery Dissection
Stroke, Hypertension, Facial palsy, Transient ischemic attack, Cerebral ischemia, Recurrent cereb... ORPHA:36382
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Scaling skin, Hypermelanotic macule, Nail dystrophy, Alopecia of scalp, Alopecia, Dry skin, Palmo... OMIM:618373
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Pentasomy X
Plagiocephaly, Abnormal cardiac septum morphology, Microcephaly, Micrognathia, Patent ductus arte... ORPHA:11
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Heterotaxy, Visceral, 8, Autosomal
Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul... OMIM:617205
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Bic... OMIM:618845
Ectodermal Dysplasia-Syndactyly Syndrome 1
Coarse hair, Small nail, Sparse scalp hair, Patchy alopecia, Sparse eyelashes, Hypoplastic toenai... OMIM:613573
Ectodermal Dysplasia 7, Hair/Nail Type
Dystrophic fingernails, Brittle hair, Abnormal sweat gland morphology, Dystrophic toenail, Sparse... OMIM:614929
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Lethal Congenital Contracture Syndrome 10
Narrow palate, Long philtrum, High palate, Micrognathia, Cardiomegaly, Overriding aorta, Ventricu... OMIM:617022
Olmsted Syndrome 2
Parakeratosis, Perioral hyperkeratosis, Hyperkeratosis, Woolly hair, Sparse hair, Palmoplantar hy... OMIM:619208
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Palmoplantar keratoderma, Nail dystrophy, Lack of skin elasticity, Alopecia totalis ORPHA:1366
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... OMIM:619947
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Retrognathia, Plagiocephaly, Muscular ventricular septal defect, Esophageal atresia, Tracheoesoph... OMIM:619227
Clouston Syndrome
Nail dysplasia, Nail dystrophy, Small nail, Brittle hair, Absent pubic hair, Hyperpigmentation of... OMIM:129500
Cardiomyopathy, Dilated, 2D
Muscular ventricular septal defect, Patent foramen ovale, Perinuclear cardiomyocyte vacuolization... OMIM:619371
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Polyhydramnios, Upper limb undergrowth, Nonimmune hydrops fetalis, Pulmonary hyp... OMIM:613124
Classic Mycosis Fungoides
Irregular hyperpigmentation, Hypopigmented skin patches, Skin ulcer, Abnormality of the nail, Hyp... ORPHA:2584
Apert Syndrome
Megalencephaly, Brachyturricephaly, Bifid uvula, Craniosynostosis, Narrow palate, Cleft palate, M... OMIM:101200
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Cerebellar vermis hypoplasia, P... OMIM:620642
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Chromosome 9P Deletion Syndrome
Narrow palate, Retrognathia, Perimembranous ventricular septal defect, Thin vermilion border, Hig... OMIM:158170
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Truncus arteriosus, Pulmonary artery atresi... OMIM:620294
Feingold Syndrome 2
Secondary microcephaly, Intestinal atresia, Short middle phalanx of the 5th finger, Short thumb, ... OMIM:614326
Woolly Hair, Autosomal Recessive 3
Trichorrhexis nodosa, Sparse scalp hair, Curly hair, Sparse eyelashes, Sparse hair, Fine hair OMIM:616760
Feingold Syndrome Type 2
Microcephaly, Short middle phalanx of finger, Short thumb, Jejunal atresia, Ventricular septal de... ORPHA:391646
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal palate morphology, Tooth agenesis, Abnormal mitral valve morphology, Micrognathia, Mesom... ORPHA:1277
Adenylosuccinate Lyase Deficiency
Brachycephaly, Flat occiput, Hypointensity of cerebral white matter on MRI, Microcephaly, Smooth ... ORPHA:46
Aorto-Ventricular Tunnel
Aortic root aneurysm, Abnormal heart valve morphology, Ventricular hypertrophy, Abnormal aortic m... ORPHA:3400
Cardiomyopathy, Dilated, 2G
Left atrial enlargement, Severely reduced left ventricular ejection fraction, Aortic regurgitatio... OMIM:619897
Aortic Valve Disease 1
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va... OMIM:109730
Anonychia With Flexural Pigmentation
Dry skin, Axillary and groin hyperpigmentation and hypopigmentation, Anonychia OMIM:106750
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Truncus arteriosus, Microcephaly, Cleft palate, Short distal phalanx of finger, ... OMIM:601355
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Albinism, Oculocutaneous, Type Iv
Albinism, Blue irides, Hypopigmentation of hair OMIM:606574
Lichen Planopilaris
Hypopigmented skin patches, Skin ulcer, Hyperkeratosis, Onycholysis, Abnormal fingernail morpholo... ORPHA:525
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor, Albinism, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:2786
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Pierre Robin Syndrome And Oligodactyly
Micrognathia, Pierre-Robin sequence, Cleft palate, Finger aplasia OMIM:172880
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Hypoplasia of the corpus callosum, Retrognathia, Brachycephaly, Ventricular septal defect, High p... OMIM:618142
Sotos Syndrome
Narrow palate, Advanced eruption of teeth, Macrocephaly, Muscular ventricular septal defect, High... OMIM:117550
Microcephaly-Microcornea Syndrome, Seemanova Type
Brachycephaly, Retrognathia, Narrow mouth, High palate, Microcephaly ORPHA:2528
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Pseudopelade Of Brocq
Abnormal hair morphology, Abnormality of the nail, Sparse scalp hair, Aplasia/Hypoplasia of the e... ORPHA:129
Double Outlet Right Ventricle
Truncus arteriosus, Pulmonary artery atresia, Narrow mouth, Pulmonic stenosis, Intestinal malrota... ORPHA:3426
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P... OMIM:619702
Santos Syndrome
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... OMIM:613005
Maternal Phenylketonuria
Hypoplasia of the corpus callosum, Long philtrum, Esophageal atresia, High palate, Microcephaly, ... ORPHA:2209
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor, Hepatomegaly, Splenomegaly ORPHA:46532
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Porphyria Cutanea Tarda
Onycholysis, Hyperpigmentation in sun-exposed areas, Facial hypertrichosis, Alopecia OMIM:176100
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Truncus arteriosus, Abnormal aortic morphology, Microcephaly, Micrognathia, ... ORPHA:2516
Tetralogy Of Fallot
Thin vermilion border, Dolichocephaly, Tetralogy of Fallot ORPHA:3303
Global Developmental Delay With Or Without Impaired Intellectual Development
Plagiocephaly, Oligodontia, Frontal bossing, Patent ductus arteriosus, Atrial septal defect, Vent... OMIM:618330
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Thoracic hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertri... OMIM:117850
Alopecia Totalis
Alopecia of scalp, Onycholysis, Fragile nails, Nail pits, Trachyonychia, Vitiligo, Alopecia totalis ORPHA:700
14Q11.2 Microdeletion Syndrome
Exaggerated cupid's bow, High palate, Everted lower lip vermilion, Narrow mouth, Micrognathia, Pa... ORPHA:261120
Oliver-Mcfarlane Syndrome
Long eyebrows, Long eyelashes, Sparse hair, Central heterochromia, Pigmentary retinopathy, Alopecia OMIM:275400
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Abnormal metaphysis morphology, Abnormal hip bone morphology, Abnormal me... ORPHA:2631
Meckel Syndrome, Type 11
Polydactyly, Occipital encephalocele, Oligohydramnios OMIM:615397
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Hypertension, Transient ischemic attack, Aortic dissection, Subarachnoid he... ORPHA:231160
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Non-midline cleft of the upper lip, Ectopic anus, Cleft palate, Aplasia/Hypoplasia o... ORPHA:2476
Catel-Manzke Syndrome
Glossoptosis, Oral synechia, Micrognathia, Cleft palate, Malar flattening, Atrial septal defect, ... ORPHA:1388
Diabetic Embryopathy
Transposition of the great arteries, Abnormal aortic morphology, Microcephaly, Frontal bossing, M... ORPHA:1926
Thomas Syndrome
Cleft upper lip, Cleft palate, Dolichocephaly, Hypoplastic left heart ORPHA:3316
Isolated Pierre Robin Syndrome
Micrognathia, Cleft palate, Glossoptosis ORPHA:718
Hypotrichosis Simplex Of The Scalp
Slow-growing scalp hair, Scaling skin, Parakeratosis, Alopecia of scalp, Hyperkeratosis, Sparse s... ORPHA:90368
Olmsted Syndrome 1
Nail dysplasia, Parakeratosis, Nail dystrophy, Hyperparakeratosis, Periorificial hyperkeratosis, ... OMIM:614594
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Dystrophic fingernails, Dystrophic toenail, Sparse scalp hair, Sparse eyebrow, Melanocytic nevus,... ORPHA:1882
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Thick lower lip vermilion, Short philtrum, Micrognathia, Atrial septal defect, Ventricular septal... OMIM:608227
Coarctation Of Aorta
Coarctation of aorta, Hypoplastic left heart OMIM:120000
Diamond-Blackfan Anemia 6
Retrognathia, Ventricular hypertrophy, Cleft upper lip, Micrognathia, Bifid uvula, Tetralogy of F... OMIM:612561
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Partial anomalous pulmonary venous return, Solitary median maxillary central incisor, Dextrocardi... OMIM:619657
Hamel Cerebro-Palato-Cardiac Syndrome
Narrow mouth, Microcephaly, Micrognathia, Cleft palate, Malar flattening, Atrial septal defect ORPHA:93946
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Craniofacial Dyssynostosis With Short Stature
Hypoplasia of the corpus callosum, Brachycephaly, Brachyturricephaly, Pyloric stenosis, Frontal b... OMIM:218350
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc... OMIM:605376
8Q12 Microduplication Syndrome
Brachycephaly, Narrow mouth, Everted lower lip vermilion, Long philtrum, Atrial septal defect, Ve... ORPHA:228399
Lethal Congenital Contracture Syndrome 11
Polyhydramnios, Elbow flexion contracture, Camptodactyly, Bilateral talipes equinovarus, Pulmonar... OMIM:617194
German Syndrome
Brachycephaly, Orofacial cleft, High palate, Everted lower lip vermilion, Micrognathia, Dolichoce... ORPHA:2077
Ectodermal Dysplasia/Skin Fragility Syndrome
Scaling skin, Alopecia of scalp, Nail dystrophy, Dystrophic fingernails, Absent eyelashes, Absent... OMIM:604536
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy of Fallot OMIM:617992
Non-Distal Duplication 10Q
Brachycephaly, High palate, Everted lower lip vermilion, Microcephaly, Frontal bossing, Micrognathia ORPHA:1695
Mullegama-Klein-Martinez Syndrome
Short philtrum, Microcephaly, Submucous cleft of soft and hard palate, Coarctation of aorta, Micr... OMIM:301022
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus OMIM:617021
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Thin corpus callosum, Microcephaly, Hypoplasia of the pons, Atrial septal defect, Ventricular sep... OMIM:614249
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:607624
Lujan-Fryns Syndrome
Brachycephaly, Macrocephaly, Aplasia/Hypoplasia of the corpus callosum, Short philtrum, Dental cr... ORPHA:776
Partial Atrioventricular Septal Defect
Abnormal tricuspid valve morphology, Bacterial endocarditis, Coronary sinus enlargement, Transien... ORPHA:1330
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Bilateral cleft palate, Abnormal aortic morphology, Intestinal malrotation, Micrognathia, Bifid t... ORPHA:2001
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long philtrum, Parachute mitral valve, Macrocephaly, Short philtrum, Patent foramen ovale, Exagge... OMIM:618316
Scimitar Syndrome
Mitral atresia, Abnormal heart morphology, Interrupted inferior vena cava with azygous continuati... ORPHA:185
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Nail dysplasia, Nail dystrophy, Facial erythema, Scarring alopecia of scalp, Sparse eyelashes, Sp... OMIM:612843
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... OMIM:262000
Rhizomelic Limb Shortening With Dysmorphic Features
Plagiocephaly, Macrocephaly, Rhizomelia, Patent foramen ovale, Micrognathia, Short thumb, Smooth ... OMIM:618821
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Holoprosencephaly 13, X-Linked
Solitary median maxillary central incisor, Duodenal atresia, Optic nerve hypoplasia, Patent foram... OMIM:301043
Hadziselimovic Syndrome
Hypoplasia of the corpus callosum, Thick lower lip vermilion, Ventricular hypertrophy, Pulmonary ... OMIM:612946
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Brachycephaly, Macrocephaly, Broad jaw, Craniosynostosis, Thickened calvaria ORPHA:178377
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ... ORPHA:2141
Fetal Minoxidil Syndrome
Micrognathia, Ventricular septal defect ORPHA:1918
Schöpf-Schulz-Passarge Syndrome
Palmoplantar keratoderma, Alopecia, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
10Q22.3Q23.3 Microduplication Syndrome
Abnormality of the philtrum, Abnormality of the dentition, Microcephaly, Tetralogy of Fallot, Mic... ORPHA:276422
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613265
Palmoplantar Keratoderma And Woolly Hair
Leukonychia, Sparse scalp hair, Woolly hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, ... OMIM:616099
Dural Sinus Malformation
Cerebellar hemorrhage, Vascular dilatation, Abnormal facial vein morphology, Arteriovenous fistul... ORPHA:97339
Flynn-Aird Syndrome
Hyperkeratosis, Alopecia of scalp, Alopecia OMIM:136300
Epidermolysis Bullosa, Junctional 5A, Intermediate
Alopecia of scalp, Nail dystrophy, Absent pubic hair, Onycholysis of distal fingernails, Absent a... OMIM:619816
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly OMIM:615983
Congenital Heart Defects And Ectodermal Dysplasia
Brachycephaly, Atrioventricular canal defect, Widely spaced teeth, Microdontia, Microcephaly, Pre... OMIM:617364
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Secondary microcephaly, Frontal bossing, Abnormal heart morphology, Cleft palate ORPHA:231147
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cerebral atrophy, Cranial asymmetry, Microcephaly, Patent ductus arteriosus, Double outlet right ... OMIM:614886
Jawad Syndrome
Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th finger, 4-5 toe sy... OMIM:251255
Cortisone Reductase Deficiency 1
Hirsutism, Alopecia OMIM:604931
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri... OMIM:212093
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Short 4th metacarpal, Muscular ven... OMIM:618569
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Brachycephaly, Thick lower lip vermilion, Mandibular prognathia, Thick upper lip vermilion, Wide ... OMIM:309545
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Ascending aortic dissection, Descending aortic dissection, Coronary a... OMIM:615436
Catel-Manzke Syndrome
Dextrocardia, Glossoptosis, Short metacarpal, High palate, Narrow mouth, Cleft upper lip, Coarcta... OMIM:616145
Skraban-Deardorff Syndrome
Hypoplasia of the corpus callosum, Absent cupid's bow, Widely spaced teeth, Right aortic arch, Mi... OMIM:617616
Schopf-Schulz-Passarge Syndrome
Narrow nail, Nail dystrophy, Thin nail, Ridged nail, Small nail, Hyperkeratosis, Dry skin, Poroma... OMIM:224750
Reversible Cerebral Vasoconstriction Syndrome
Ischemic stroke, Abnormal bleeding, Dilatation of the cerebral artery, Transient ischemic attack,... ORPHA:284388
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Everted lower lip vermilion, Oral synechia, Micrognathia, Cleft palate ORPHA:2016
Feingold Syndrome Type 1
Tricuspid atresia, Esophageal atresia, Interrupted aortic arch, Short middle phalanx of the 5th f... ORPHA:391641
Keratoderma Hereditarium Mutilans
Abnormality of the nail, Hyperkeratosis, Abnormal toenail morphology, Honeycomb palmoplantar hype... ORPHA:494
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Anal atresia, Microcephaly, Cleft palate, Colonic atresia, Agenesis ... OMIM:309801
Huriez Syndrome
Small nail, Abnormality of the nail, Dry skin, Lack of skin elasticity, Palmoplantar keratoderma ORPHA:384
Cornelia De Lange Syndrome 2
Brachycephaly, High palate, Hypertrophic cardiomyopathy, Microcephaly, Micrognathia, Thin upper l... OMIM:300590
Cleft Palate, Isolated
Increased overbite, Anterior open-bite malocclusion, Gingival overgrowth, Micrognathia, Cleft palate OMIM:119540
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Orofacial cleft, Aplasia/Hypoplasia of the thum... ORPHA:3186
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Short philtrum, Everted lower lip vermilion, Cleft palate, Tented upper lip... OMIM:616898
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Palmoplantar scaling skin, Nail dystrophy, Woolly hair, Sparse eyelashes, Sparse eyebrow, Palmopl... OMIM:605676
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Cerebral hemorrhage, Intracranial hemorrhage OMIM:105150
Abetal34V Amyloidosis
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324703
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Microcephaly-Cardiomyopathy Syndrome
Microcephaly, Dilated cardiomyopathy, Ventricular septal defect, High, narrow palate ORPHA:2515
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Patent for... OMIM:620570
Microphthalmia, Syndromic 12
Retrognathia, Hypoplastic left atrium, Intestinal malrotation, Micrognathia, Cleft palate, Ventri... OMIM:615524
Idiopathic Trachyonychia
Nail dystrophy, Toenail dysplasia, Thin nail, Ridged nail, Abnormality of the periungual region, ... ORPHA:79153
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Toenail dysplasia, Sparse scalp hair, Abnormal fingernail morphology, Hypoplastic toenails, Finge... ORPHA:2325
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Holoprosencephaly 14
Macrocephaly, Proboscis, Aortic valve atresia, Dandy-Walker malformation, Microcephaly, Frontal b... OMIM:619895
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Muscular ventricular septal defect, Stroke, Ventricular hypertrop... OMIM:115197
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Brachycephaly, Plagiocephaly, Microcephaly, Diffuse cerebral atrophy, Flat occiput ORPHA:2898
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus, Cleft palate, Malar flattening, Smooth philtrum, Thin upper lip vermilion OMIM:611867
Bathing Suit Ichthyosis
Scaling skin, Parakeratosis, Nail dystrophy, Sparse hair, Palmoplantar hyperkeratosis, Alopecia ORPHA:100976
Heart Defects, Congenital, And Other Congenital Anomalies
Perimembranous ventricular septal defect, Transposition of the great arteries, Total absence of t... OMIM:600001
Oculoauriculofrontonasal Syndrome
Macrocephaly, Narrow mouth, Microcephaly, Micrognathia, Cleft palate, Broad philtrum, Pericallosa... ORPHA:398156
15Q11.2 Microdeletion Syndrome
Abnormal palate morphology, Total anomalous pulmonary venous return, Thick cerebral cortex, Micro... ORPHA:261183
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia OMIM:603284
Congenital Disorder Of Glycosylation, Type Iie
Cerebral atrophy, Hypoplasia of the corpus callosum, Perimembranous ventricular septal defect, Re... OMIM:608779
Mungan Syndrome
Perimembranous ventricular septal defect, Intestinal pseudo-obstruction, Barrett esophagus, Pulmo... OMIM:611376
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar... OMIM:613751
Hoxha-Aliu Syndrome
Brachycephaly, Perimembranous ventricular septal defect, Absent fifth metatarsal, Short fifth met... OMIM:620662
Epidermolysis Bullosa, Junctional 1A, Intermediate
Nail dystrophy, Patchy alopecia, Plantar hyperkeratosis, Fragile nails OMIM:226650
Intellectual Developmental Disorder, Autosomal Dominant 21
Thin vermilion border, Incisor macrodontia, Narrow mouth, Microcephaly, Coarctation of aorta, Cle... OMIM:615502
Congenital Factor Ii Deficiency
Prolonged prothrombin time, Abnormal bleeding, Cephalohematoma, Excessive bleeding from superfici... ORPHA:325
Osteopathia Striata-Cranial Sclerosis Syndrome
Brachycephaly, Retrognathia, High, narrow palate, Macrocephaly, Delayed eruption of teeth, Cerebr... ORPHA:2780
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Exaggerated cupid's bow, Microcephaly, Trigonocephaly, Wide mouth, Thick vermilion border, Delaye... OMIM:618506
Cardiomyopathy, Dilated, 1S
Perimembranous ventricular septal defect, Ebstein anomaly of the tricuspid valve, Pulmonary arter... OMIM:613426
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Double Outlet Left Ventricle
Pulmonary valve atresia, Orofacial cleft, Double outlet left ventricle, Tricuspid atresia, Bicusp... ORPHA:3427
Ermine Phenotype
White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig... OMIM:227010
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Holzgreve Syndrome
Cleft upper lip, Cleft palate, Hypoplastic left heart OMIM:236110
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Aortic aneurysm, Aortic valve stenosis, Tetralogy of Fallot... OMIM:614980
Hypotrichosis 8
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... OMIM:278150
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Coronal craniosynostosis, Micrognathia, Malar flattening, Patent ductu... OMIM:241310
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo... OMIM:193510
Heterotaxy, Visceral, 5, Autosomal
Cerebral atrophy, Atrioventricular canal defect, Cerebellar hypoplasia, Double inlet left ventric... OMIM:270100
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ... ORPHA:2919
Laubry-Pezzi Syndrome
Perimembranous ventricular septal defect, Patent ductus arteriosus, Subarterial ventricular septa... ORPHA:99094
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
8P23.1 Duplication Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Thick vermilion border, Long philtrum, Ventricular septal... ORPHA:251076
Moderate Hemophilia A
Spontaneous hematomas, Gastrointestinal hemorrhage, Epidural hemorrhage, Abnormal bleeding, Intra... ORPHA:169805
Autosomal Recessive Amelia
Orofacial cleft, Non-midline cleft of the upper lip, Amelia involving the upper limbs, Amelia, Ac... ORPHA:1027
Diprosopus
Non-midline cleft of the upper lip, Cleft palate, Anencephaly, Abnormal cardiac septum morphology ORPHA:1681
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:619165
Sporadic Fetal Brain Disruption Sequence
Microcephaly, Plagiocephaly, Cerebral cortical atrophy, Prominent occiput ORPHA:1665
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Factor Vii Deficiency
Abnormal bleeding, Intramuscular hematoma, Menorrhagia, Joint hemorrhage, Epistaxis, Intracranial... OMIM:227500
Coffin-Siris Syndrome 6
Periventricular leukomalacia, Retrognathia, High, narrow palate, Plagiocephaly, Short philtrum, F... OMIM:617808
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Turricephaly, Prominent occiput, Microdontia, Microcephaly, Bifid uvula, Long philtrum, Short dis... OMIM:612474
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Interrupted aortic arch, Microcephaly, Micrognathia, Cleft p... ORPHA:1727
Congenital Factor V Deficiency
Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleeding, Pr... ORPHA:326
Mesoaxial Hexadactyly And Cardiac Malformation
Everted lower lip vermilion, Pulmonic stenosis, Patent ductus arteriosus, Atrial septal defect, V... OMIM:249670
Congenital Gerbode Defect
Perimembranous ventricular septal defect, Vascular dilatation, Abnormal tricuspid valve leaflet m... ORPHA:99095
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hypoplasia of the corpus callosum, Brachycephaly, Dysplastic pulmonary valve, Microcephaly, Cleft... OMIM:300958
Lessel-Kreienkamp Syndrome
Plagiocephaly, Dental malocclusion, Patent foramen ovale, Pulmonic stenosis, Frontal bossing, Ope... OMIM:619149
Ichthyosis, Congenital, Autosomal Recessive 1
Nail dysplasia, Parakeratosis, Nail dystrophy, Sparse hair, Palmoplantar hyperkeratosis, Alopecia OMIM:242300
Congenital Disorder Of Glycosylation, Type Ih
Long philtrum, Perimembranous ventricular septal defect, Protein-losing enteropathy, Patent ductu... OMIM:608104
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Cerebral atrophy, Perimembranous ventricular septal defect, Thick lower lip vermilion, Widely-spa... OMIM:301040
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Fumarase Deficiency
Cerebral atrophy, Perimembranous ventricular septal defect, Polymicrogyria, Relative macrocephaly... OMIM:606812
Woolly Hair-Skin Fragility Syndrome
Palmoplantar keratoderma, Acantholysis, Woolly hair OMIM:620415
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Purpura, Excessive bleeding from superficial cuts, Gingival bleeding... OMIM:273800
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Hypoplasia of the corpus callosum, Plagiocephaly, Macrocephaly, Polymicrogyria, Patent foramen ov... ORPHA:500159
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypoplasia of the corpus callosum, Retrognathia, Global brain atrophy, Macrocephaly, Craniosynost... OMIM:301056
Mesomelic Limb Shortening And Bowing
Retrognathia, Mesomelic arm shortening, Mesomelic leg shortening, Micrognathia, Cleft palate OMIM:249710
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Cephalohematoma, Intramuscular hematoma, Prolon... ORPHA:169802
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia OMIM:242510
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept... ORPHA:1455
Temtamy Syndrome
Abnormal palate morphology, Macrocephaly, Thick lower lip vermilion, Aortic aneurysm, Micrognathi... ORPHA:1777
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Macrocephaly, Thick lower lip vermilion, Optic nerve hypoplasia, Cranial asymmetry, Pulmonic sten... ORPHA:137634
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Abnormal coronary artery morphology, Abnormal aortic arch... ORPHA:860
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Isotretinoin Embryopathy-Like Syndrome
Micrognathia, Conotruncal defect, Cleft palate OMIM:243440
3P25.3 Microdeletion Syndrome
Brachycephaly, High, narrow palate, Acromesomelia, Coronary artery atherosclerosis, Short philtru... ORPHA:435638
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Aortic Aneurysm, Familial Thoracic 4
Coronary artery atherosclerosis, Stroke, Ascending tubular aorta aneurysm, Posterior cerebral art... OMIM:132900
Cat-Eye Syndrome (Type I)
Micrognathia, Abnormal heart morphology, Anal atresia DECIPHER:42
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly, Occipital encephalocele OMIM:213010
Hypotrichosis And Recurrent Skin Vesicles
Leukonychia, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse axilla... OMIM:613102
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Brachycephaly, Widely spaced teeth, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Rela... ORPHA:459061
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart OMIM:241550
Hb Bart'S Hydrops Fetalis
Hydrocephalus, Pallor, Hepatomegaly, Splenomegaly ORPHA:163596
Congenital Factor Xiii Deficiency
Spontaneous hematomas, Intramuscular hematoma, Post-partum hemorrhage, Oral cavity bleeding, Ging... ORPHA:331
Tetraamelia Syndrome 2
Hypoplastic pulmonary veins, Amelia, Glossoptosis, Ankyloglossia, Micrognathia, Cleft palate, Mic... OMIM:618021
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Perimembranous ventricular septa... ORPHA:508498
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... OMIM:203200
Yuan-Harel-Lupski Syndrome
Long philtrum, Aortic root aneurysm, High palate, Smooth philtrum, Bicuspid aortic valve, Ventric... OMIM:616652
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir... ORPHA:895
Rhizomelic Syndrome
Pulmonic stenosis, Micrognathia, Rhizomelia, Microcephaly OMIM:268250
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Thin corpus callosum, Dilation of Virchow-Robin spaces, Everted lower lip vermilion, Microcephaly... OMIM:619720
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Long eyelashes, Pigmentary retinopathy, Sparse hair, Alopecia ORPHA:3363
Polyvalvular Heart Disease Syndrome
Short philtrum, Abnormal heart valve morphology, Dental crowding, High palate, Pulmonic stenosis,... ORPHA:228410
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Moyamoya phenomenon, Ischemic stroke, Delayed puberty, Coronary artery atherosclerosis, Hypertens... ORPHA:280679
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Slow-growing hair, Sparse scalp hair, Dry skin, Sparse eyelashes, Sparse body hair, Sparse hair, ... OMIM:618535
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Descending thoracic aorta ane... ORPHA:229
Cataract-Intellectual Disability-Hypogonadism Syndrome
Brachycephaly, Short philtrum, Tooth malposition, High palate, Everted lower lip vermilion, Furro... ORPHA:1387
Hypotrichosis 7
Brittle hair, Abnormality of the nail, Abnormal sweat gland morphology, Sparse scalp hair, Woolly... OMIM:604379
Brain Small Vessel Disease 2
Growth delay, Intracranial hemorrhage OMIM:614483
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Secondary microcephaly, Broad secondary alveolar ridge, High palate, Multiple suture craniosynost... ORPHA:3369
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Brachycephaly, Long philtrum, Plagiocephaly, Macrocephaly, Mandibular prognathia, Microcephaly, F... OMIM:619721
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Retrognathia, Mandibular prognathia, Microcephaly, Micrognathia, Bifid uvula, Cleft palate, Submu... ORPHA:2521
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Brachycephaly, Plagiocephaly, Transposition of the great arteries, Patent foramen ovale, Everted ... OMIM:616789
Halperin-Birk Syndrome
Perimembranous ventricular septal defect, High palate, Micrognathia, Thick vermilion border, Agen... OMIM:618651
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Orofacial cleft, Plagiocephaly, Microcephaly, Intestinal malrotation, Micrognathia, Incomplete cl... ORPHA:77300
Woolly Hair, Autosomal Dominant
Coarse hair, Slow-growing hair, Abnormal eyelash morphology, Woolly hair, Abnormal eyebrow morpho... OMIM:194300
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Ischemic stroke, Stroke, Hypertension, Transient ischemic attack, Cerebral ischemia, Cerebral hem... ORPHA:136
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Chromosome 3Pter-P25 Deletion Syndrome
Brachycephaly, Retrognathia, Thin vermilion border, Atrioventricular canal defect, Flat occiput, ... OMIM:613792