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Gene: Nek1 MGI:97303

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Gene Summary

Name:
NIMA (never in mitosis gene a)-related expressed kinase 1
Synonyms:
D8Ertd790e,  kat,  kidney, anemia and testis

Order Alleles

IMPC Data Collections

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
decreased grip strength Nek1em1(IMPC)Bay HOM Early adult 3.61×10-06
decreased bone mineral content Nek1em1(IMPC)Bay HOM Early adult 2.75×10-17
abnormal retina outer nuclear layer morphology Nek1em1(IMPC)Bay HOM Early adult 0.00
abnormal bone structure Nek1em1(IMPC)Bay HOM Early adult 6.80×10-34
male infertility Nek1em1(IMPC)Bay HOM Early adult 0.00
decreased body length Nek1em1(IMPC)Bay HOM Early adult 3.85×10-29
abnormal pelvic girdle bone morphology Nek1em1(IMPC)Bay HOM Early adult 2.95×10-05
short tibia Nek1em1(IMPC)Bay HOM Early adult 0.00
decreased cardiac stroke volume Nek1em1(IMPC)Bay HOM Early adult 1.45×10-06
decreased total retina thickness Nek1em1(IMPC)Bay HOM Early adult 1.05×10-29
abnormal cranium morphology Nek1em1(IMPC)Bay HOM   Early adult 2.71×10-07
decreased prepulse inhibition Nek1em1(IMPC)Bay HOM   Early adult 1.77×10-07

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

8 Images

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Eye Morphology

VIP of left eye

14 Images

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Eye Morphology

VIP of left fundus

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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Eye Morphology

VIP of right eye

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

8 Images

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X-ray

XRay Images Forepaw

8 Images

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Eye Morphology

VIP of right fundus

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

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Human diseases caused by Nek1 mutations

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

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

The table below shows human diseases associated to Nek1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Pancreatic fibrosis, Brachycephaly, Lateral ventricle dilatation, P... OMIM:263520
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... ORPHA:2751
Amyotrophic Lateral Sclerosis
Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigable we... ORPHA:803
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
OMIM:617892

The table below shows human diseases predicted to be associated to Nek1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Hypotrichosis 1
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... OMIM:605389
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Polyrrhinia
Abnormal third ventricle morphology, Abnormal nasal bone morphology, Abnormal external nose morph... ORPHA:141091
Spermatogenic Failure 17
Male infertility OMIM:617214
Intellectual Developmental Disorder, X-Linked 103
Bilateral cryptorchidism, Lateral ventricle dilatation, Anteverted nares, Micropenis OMIM:300982
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Holoprosencephaly 5
Depressed nasal bridge, Anteverted nares, Syntelencephaly, Alobar holoprosencephaly, Hydrocephalu... OMIM:609637
Band Heterotopia
Hydrocephalus, Plagiocephaly, Lateral ventricle dilatation, Agenesis of corpus callosum, Ventricu... OMIM:600348
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus, Agenesis of cerebellar vermis, Partial absence of cerebe... OMIM:220200
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Global Developmental Delay With Or Without Impaired Intellectual Development
Frontal bossing, Hypospadias, Bulbous nose, Plagiocephaly, Lateral ventricle dilatation OMIM:618330
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Wide nasal bridge, Renal cyst OMIM:614870
Gómez-López-Hernández Syndrome
Turricephaly, Cerebellar vermis hypoplasia, Anteverted nares, Abnormal cerebellum morphology, Hyd... ORPHA:1532
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Craniosynostosis 6
Cerebellar atrophy, Bicoronal synostosis, Turricephaly, Craniosynostosis, Parietal foramina, Brac... OMIM:616602
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... ORPHA:2779
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Bicoronal synostosis, Flat occiput, Hypoplasia of the pons, Brachycephaly, Lateral ventricle dila... OMIM:618736
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Congenital Disorder Of Glycosylation, Type Iiy
Agenesis of corpus callosum, Brachycephaly, Ventriculomegaly, Atrophy/Degeneration affecting the ... OMIM:620200
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Anteverted nares, Wide nasal brid... OMIM:608629
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Prominent nose, Cryptorchidism, Brachycephaly, Lateral ventricle dilatation, Dilated third ventri... OMIM:619244
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Cryptorchidism, Hydrocephalus, Unilambdoid synostosis, Wide nasal bridge, Brach... OMIM:618577
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Depressed nasal bridge, Anteverted nares, Lateral ventricle dilatation,... OMIM:613443
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Anteverted nares, P... OMIM:617751
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Frontal bossing, Ventriculomegaly, Renal insufficiency, Depressed nasal bridge, Hypospadias, Cere... ORPHA:397715
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Frontal bossing, Agenesis of cerebellar vermis, Depressed nasal bridge,... OMIM:220220
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Frontal bossing, Hydrocephalus, Cerebellar hypoplasia, Dolichocephaly, Dandy-Walker malformation,... ORPHA:1538
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, ... OMIM:615771
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Hypotrichosis 10
Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:614238
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Cach Syndrome
Cerebellar atrophy, Premature ovarian insufficiency, T2 hypointense thalamus, Nonketotic hypergly... ORPHA:135
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation, Brachycephaly OMIM:619972
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... ORPHA:2722
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation, Cerebellar hypoplasia, Hypoplasia of the brainstem OMIM:618266
Craniofacial Dyssynostosis With Short Stature
Frontal bossing, Hypospadias, Cryptorchidism, Hydrocephalus, Brachycephaly, Horseshoe kidney, Chi... OMIM:218350
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Martsolf Syndrome 2
Lateral ventricle dilatation, Hypogonadotropic hypogonadism, Broad nasal tip OMIM:619420
Lissencephaly 4
Cerebellar hypoplasia, Colpocephaly, Agenesis of corpus callosum, Wide nasal bridge OMIM:614019
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Mpdu1-Cdg
Renal cortical cysts, Parietal bossing, Decreased response to growth hormone stimulation test, Ve... ORPHA:79323
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism, Lateral ventricle dilatation OMIM:616816
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Meckel Syndrome, Type 10
Dilated fourth ventricle, Frontal bossing, Occipital encephalocele, Hypospadias, Anencephaly, Ren... OMIM:614175
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hy... OMIM:604213
Chromosome 3Q13.31 Deletion Syndrome
Alobar holoprosencephaly, Dolichocephaly, Cryptorchidism, Brachycephaly, Plagiocephaly, Shawl scr... OMIM:615433
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Femoral-Facial Syndrome
Maternal diabetes, Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of... ORPHA:1988
Meckel Syndrome 13
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar hypoplasia, Polycystic kidney dysplasia OMIM:617562
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Frontal bossing, Partial agenesis of the corpus callosum, Brachycephaly, Plagiocephaly, Lateral v... OMIM:617296
Ventriculomegaly With Defects Of The Radius And Kidney
Ureteral duplication, Renal agenesis, Ectopic kidney, Hydrocephalus, Horseshoe kidney, Lateral ve... OMIM:602200
Congenital Disorder Of Glycosylation, Type If
Renal cortical cysts, Parietal bossing, Ventriculomegaly OMIM:609180
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Orofaciodigital Syndrome Xv
Cerebellar vermis hypoplasia, Anteverted nares, Wide nasal bridge, Molar tooth sign on MRI, Agene... OMIM:617127
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Lateral ventricle dilatation, Premature ovarian insufficiency OMIM:615889
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Wide nose, Depressed nasal bridge, Broad nasal tip, Long nose, Wide nasal bridge, Brachycephaly, ... OMIM:619995
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hypoplasia of the pons, Hydrocephalus, Lateral ventricle dilatation, C... OMIM:613154
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Ectodermal Dysplasia 9, Hair/Nail Type
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair OMIM:614931
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Turricephaly, Hypospadias, Anteverted nares, Depressed nasal bridge, Renal agenesis, Craniosynost... ORPHA:171839
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Frontal bossing, Depressed nasal bridge, Anteverted nares... OMIM:614105
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... OMIM:112910
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Mosaic Trisomy 1
Frontal bossing, Cerebellar vermis hypoplasia, Depressed nasal bridge, Wide nasal bridge, Renal c... ORPHA:1692
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Cryptorchidism, Hydrocephalus, Brachycephaly, Plagiocephaly, Hypogonadism, Micropenis, Dilated th... ORPHA:500055
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Lateral ventricle dilatation, Cerebellar vermis atrophy, Atrophy/Degene... ORPHA:77299
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Malan Overgrowth Syndrome
Frontal bossing, Depressed nasal bridge, Scaphocephaly, Plagiocephaly, Lateral ventricle dilatati... ORPHA:420179
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Cerebellar vermis hypoplasia, Sagittal craniosynostosis, Dandy-Walker malformation OMIM:123155
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Recurrent upper respiratory tract infections, Lateral ventricle dilatat... ORPHA:3078
Beemer Lethal Malformation Syndrome
Hydrocephalus, Wide nasal bridge, Thrombocytopenia OMIM:209970
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology OMIM:259270
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Short nose, Wide nasal bridge, Lateral ventricle dilatation, Broad nasal tip OMIM:615716
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology ORPHA:2703
Potocki-Shaffer Syndrome
Prominent nasal bridge, Nephroblastoma, Broad nasal tip, Underdeveloped nasal alae, Parietal fora... ORPHA:52022
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... ORPHA:1802
Alg2-Cdg
Lateral ventricle dilatation, Wide nasal bridge ORPHA:79326
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Eiken Syndrome
Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b... ORPHA:79106
Bardet-Biedl Syndrome 10
Renal insufficiency, Hypogonadism, Renal cyst OMIM:615987
Congenital Disorder Of Glycosylation, Type Il
Cerebellar atrophy, Frontal bossing, Depressed nasal bridge, Brachycephaly, Hepatosplenomegaly, P... OMIM:608776
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Glutamine Deficiency, Congenital
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Subependymal cysts, Lateral ventricl... OMIM:610015
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Hypoplasia of the pons, Abnormal brainstem morphology, Lateral ventricle dila... ORPHA:300573
Alg13-Cdg
Abnormal lateral ventricle morphology, Anteverted nares ORPHA:324422
Non-Distal Duplication 10Q
Frontal bossing, Depressed nasal bridge, Cryptorchidism, Brachycephaly, Abnormality of the urinar... ORPHA:1695
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum, Thrombocytopenia OMIM:166990
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Depressed nasal ridge, Polycystic kidney dysplasia, Ambig... OMIM:613885
Pyruvate Dehydrogenase E1-Alpha Deficiency
Partial agenesis of the corpus callosum, Cerebellar gliosis, Abnormal medullary pyramid morpholog... ORPHA:79243
Graham Little-Piccardi-Lassueur Syndrome
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair ORPHA:505
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Sparse hair, Reduced terminal:vellus ratio, Pili torti OMIM:601553
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Joubert Syndrome 6
Dilated fourth ventricle, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Stage 5... OMIM:610688
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... ORPHA:1808
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Crouzon Syndrome With Acanthosis Nigricans
Choanal atresia, Craniosynostosis, Hydrocephalus, Brachycephaly, Midface retrusion OMIM:612247
Pontocerebellar Hypoplasia, Type 1A
Hypoplasia of the pons, Lateral ventricle dilatation, Cerebellar hypoplasia, Hypoplasia of the ve... OMIM:607596
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
17P13.3 Microduplication Syndrome
Frontal bossing, Wide nose, Hypoplasia of penis, Short nose, Ventriculomegaly ORPHA:217385
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Brachycephaly, Ventriculomegaly OMIM:300699
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Hydrocephalus, Partial agenesis of the corpus callosum, Hy... OMIM:619302
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Occipital encephalocele, Olivopon... ORPHA:370959
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Dilated fourth ventricle, Cerebellar vermis atrophy, Increased CSF lactate OMIM:619054
X-Linked Intellectual Disability, Wilson Type
Hydrocele testis, Lateral ventricle dilatation, Brachycephaly ORPHA:85290
Williams-Beuren Region Duplication Syndrome
Cerebellar vermis hypoplasia, Decreased response to growth hormone stimulation test, Unilateral r... OMIM:609757
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... OMIM:613673
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Anteverted nares, Broad nasal tip, Renal cortical cysts, Plagiocephaly, Vesicoureteral reflux, Ve... OMIM:618548
Congenital Hydrocephalus
Frontal bossing, Bulbous nose, Hydrocephalus, Colpocephaly, Ventriculomegaly ORPHA:2185
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Decreased calvarial ossification, Polycystic kidney dysplasia... OMIM:617866
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, External genital hypoplasia, Stage 5 chronic kidney disease,... OMIM:615993
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... OMIM:249700
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Depressed nasal bridge, Craniosynostosis ORPHA:284417
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Cornelia De Lange Syndrome 5
Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Broad nasal tip, Cryptorchidism... OMIM:300882
Nephronophthisis 14
Cerebellar vermis hypoplasia, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
D-2-Hydroxyglutaric Aciduria 1
Frontal bossing, Glutaric aciduria, Subependymal cysts, D-2-hydroxyglutaric aciduria, Lateral ven... OMIM:600721
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... ORPHA:67044
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Congenital Disorder Of Glycosylation, Type Iig
Cerebellar atrophy, Renal insufficiency, Cerebellar vermis hypoplasia, Hypospadias, Anteverted na... OMIM:611209
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Distal Triplication 15Q
Abnormal external genitalia, Abnormality of the kidney, Craniosynostosis, Hydrocephalus, Dilatati... ORPHA:314588
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Bilateral cryptorchidism, Dysplastic corpus callosum, Bulbous nose, Lateral ventricle dilatation,... ORPHA:544488
Adams-Oliver Syndrome 2
Depressed nasal bridge, Bulbous nose, Hydrocephalus, Retrocerebellar cyst, Lateral ventricle dila... OMIM:614219
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly ORPHA:2182
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail OMIM:617294
C Syndrome
Anteverted nares, Cryptorchidism, Wide nasal bridge, Renal cortical cysts, Trigonocephaly, Short ... OMIM:211750
Joubert Syndrome 16
Encephalocele, Renal cyst, Nephronophthisis, Molar tooth sign on MRI, Dandy-Walker malformation OMIM:614465
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Cerebellar vermis hypoplasia, Elevated circulating cr... ORPHA:228308
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... OMIM:602088
Ring Chromosome 8 Syndrome
Frontal bossing, Anteverted nares, Abnormality of the ureter, Short nose, Hydronephrosis ORPHA:1450
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation OMIM:617668
Corpus Callosum Agenesis-Neuronopathy Syndrome
Aqueductal stenosis, Turricephaly, Agenesis of corpus callosum, Craniosynostosis ORPHA:1496
Pfeiffer Syndrome Type 3
Depressed nasal bridge, Choanal atresia, Aqueductal stenosis, Horseshoe kidney, Chiari malformati... ORPHA:93260
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Elevated transferrin saturation, Splenomegaly, Azoo... OMIM:615234
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cerebellar atrophy, Hypospadias, Conjugated hyperbilirubinemia, Cryptorchidism, Splenomegaly, Ele... OMIM:614866
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Frontal bossing, Hypospadias ORPHA:250994
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Abnormal ... ORPHA:370022
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum OMIM:307000
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Wide nose, Abnormal lateral ventricle morphology, Depressed nasal bridge, Cer... ORPHA:488635
Spinocerebellar Ataxia, Autosomal Recessive 13
Dilated fourth ventricle, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Retrocerebel... OMIM:614831
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Carnitine Palmitoyltransferase Ii Deficiency
Cerebellar vermis hypoplasia, Elevated circulating creatine kinase concentration, Elevated circul... ORPHA:157
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase ... OMIM:608836
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Extra-axial cerebrospinal fluid accum... OMIM:618291
Trisomy 17P
Hypoplasia of penis, Wide nose, Urethral valve, Prominent nose, Hydrocephalus, Urethral stenosis,... ORPHA:261290
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Partial agene... ORPHA:171680
Basel-Vanagaite-Smirin-Yosef Syndrome
Prominent nasal tip, Hypospadias, Anteverted nares, Lateral ventricle dilatation, Male urethral m... ORPHA:464738
Pfeiffer Syndrome Type 1
Depressed nasal bridge, Aqueductal stenosis, Brachycephaly, Short nose, Midface retrusion, Bicoro... ORPHA:93258
Arima Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Proteinuria, Polyuria, Agenesis of cerebe... OMIM:243910
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Lateral ventricle dilatation, Partial agenesis of the corpus callosum, Abnormal dentate nucleus m... OMIM:619517
Slc35A2-Cdg
Cerebellar atrophy, Increased circulating thyroglobulin level, Abnormal midbrain morphology, Cran... ORPHA:356961
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Cerebellar hypoplasia, Cerebellar vermis atrophy OMIM:213200
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Prominent nose, Abnormal preputium morphology, Bulbous nose, Choroid plexus cyst, Glandular hypos... ORPHA:293725
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Wide nose, Multicystic kidney dysplasia, Hypospadias, Anteverted nares, Depressed ... OMIM:257300
Pseudo-Torch Syndrome 2
Ventriculomegaly, Lateral ventricle dilatation, Cerebellar hypoplasia, Abnormal renal corticomedu... OMIM:617397
Cog5-Cdg
Cerebellar atrophy, Neurogenic bladder, Urinary incontinence, Prominent nose, Cryptorchidism, Wid... ORPHA:263487
Pierpont Syndrome
Wide nasal ridge, Cryptorchidism, Brachycephaly, Chiari malformation, Ventriculomegaly ORPHA:487825
46,Xy Sex Reversal 4
Renal dysplasia, Hypergonadotropic hypogonadism, Anteverted nares, Prominent nose, Elevated circu... OMIM:154230
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Pontocerebellar Hypoplasia, Type 13
Cerebellar vermis hypoplasia, Anteverted nares, Hypoplasia of the pons, Lateral ventricle dilatat... OMIM:618606
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Cryptorchidism, Cerebellar hypoplasia, Cystic renal dysplasia, Ventriculomegaly OMIM:613730
Recombinant Chromosome 8 Syndrome
Depressed nasal bridge, Anteverted nares, Cryptorchidism, Brachycephaly, Midface retrusion, Hydro... OMIM:179613
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Lateral ventricle dilatation, Urinary incontinence OMIM:221770
Meckel Syndrome, Type 11
Occipital encephalocele, Polycystic kidney dysplasia OMIM:615397
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Adenylosuccinate Lyase Deficiency
Short nose, Flat occiput, Anteverted nares, Brachycephaly ORPHA:46
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... OMIM:612447
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Renal hypoplasia OMIM:276950
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Potocki-Shaffer Syndrome
Turricephaly, Underdeveloped nasal alae, Parietal foramina, Brachycephaly, Wide nasal bridge, Mic... OMIM:601224
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Depressed nasal bridge, Hydrocephalus, Chiari type I malformation, Renal tubular acidosis, Latera... OMIM:619575
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the pons, Hypoplasia of the... OMIM:615574
Peroxisome Biogenesis Disorder 1A (Zellweger)
Flat occiput, Hypospadias, Anteverted nares, Adrenal hypoplasia, Cryptorchidism, Subependymal cys... OMIM:214100
Greig Cephalopolysyndactyly Syndrome
Frontal bossing, Hypospadias, Craniosynostosis, Cryptorchidism, Hydrocephalus, Scaphocephaly, Wid... OMIM:175700
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Cerebellar vermis hypoplasia, Depressed nasal bridge, Abnormality of the kidney, Sagittal cranios... ORPHA:459061
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Mesomelic Dysplasia, Savarirayan Type
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Fibular aplasia, Mesomelia, Shor... OMIM:605274
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Anteverted nares, Underdeveloped nasal alae, Meningocele, Renal cys... ORPHA:2031
Even-Plus Syndrome
Recurrent urinary tract infections, Bifid nasal tip, Dysplastic corpus callosum, Depressed nasal ... OMIM:616854
Beckwith-Wiedemann Syndrome
Overgrowth of external genitalia, Adrenocortical cytomegaly, Cryptorchidism, Adrenocortical carci... OMIM:130650
Peroxisome Biogenesis Disorder 3A (Zellweger)
Wide nasal bridge, Polycystic kidney dysplasia OMIM:614859
Paganini-Miozzo Syndrome
Lateral ventricle dilatation, Urinary incontinence OMIM:301025
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Cerebellar cyst, Cerebellar vermis hypoplasia, Cerebellar dysplasia OMIM:615960
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Multiple Acyl-Coa Dehydrogenase Deficiency
Depressed nasal bridge, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proxi... OMIM:231680
Bardet-Biedl Syndrome 4
External genital hypoplasia, Abnormality of the kidney, Cryptorchidism, Renal cyst, Hypogonadism OMIM:615982
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis ORPHA:1008
Distal Deletion 10Q
Frontal bossing, Prominent nasal bridge, Craniosynostosis, Prominent nose, Functional abnormality... ORPHA:96148
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Frontal bossing, Ventriculomegaly, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, H... ORPHA:163961
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Frontal bossing, Turricephaly, Choanal atresia, Hydrocephalus, Brachycephaly, Chiari malformation... ORPHA:93262
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Plagiocephaly, Agenesis of corpus callosum, Brachycephaly, Ventriculomegaly OMIM:618603
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation, Elevated hemoglobin A1c OMIM:619278
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulating hormone co... OMIM:617872
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Depressed nasal bridge, Hydrocephalus, Anencephaly, Hypoplasia of t... OMIM:616546
Crouzon Syndrome
Frontal bossing, Turricephaly, Choanal atresia, Hydrocephalus, Brachycephaly, Multiple suture cra... ORPHA:207
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta... OMIM:250460
Pierpont Syndrome
Wide nose, Broad nasal tip, Cryptorchidism, Brachycephaly, Chiari malformation, Micropenis, Midfa... OMIM:602342
Gillessen-Kaesbach-Nishimura Syndrome
Underdeveloped nasal alae, Brachycephaly, Bicornuate uterus, Polycystic kidney dysplasia, Convex ... OMIM:263210
Autosomal Recessive Cutis Laxa Type 2A
Dilated fourth ventricle, Frontal bossing, Cerebellar vermis hypoplasia, Prominent nasal bridge, ... ORPHA:357058
Holoprosencephaly 14
Cerebellar atrophy, Frontal bossing, Ventriculomegaly, Anteverted nares, Proboscis, Alobar holopr... OMIM:619895
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Small scrotum, Prominent nasal bridge, Underdeveloped nasal alae, Cryptorchi... ORPHA:2083
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Frontal bossing, Small scrotum, Anteverted nares, Depressed nasal bridge, Agenesis... ORPHA:228390
Kleeblattschaedel
Hydrocephalus, Cloverleaf skull, Craniosynostosis OMIM:148800
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle OMIM:619725
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Dysplastic corpus callosum, Chronic kidney disease, Tubulointerstitial nephritis, La... ORPHA:488627
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Brachycephaly, Plagiocephaly, Dolichocephaly, Ventriculomegaly ORPHA:272
Meckel Syndrome, Type 1
Occipital encephalocele, External genital hypoplasia, Adrenal hypoplasia, Asplenia, Ambiguous gen... OMIM:249000
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Thickened... OMIM:619487
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Pettigrew Syndrome
Cerebellar vermis hypoplasia, Prominent nose, Aqueductal stenosis, Hydrocephalus, Dandy-Walker ma... OMIM:304340
Congenital Disorder Of Glycosylation, Type Ia
Dilated fourth ventricle, Cerebellar atrophy, Premature ovarian insufficiency, Hypergonadotropic ... OMIM:212065
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Frontal bossing, Depressed nasal bridge, Hypospadias, Wide nasal bridge, Lateral ventricle dilata... OMIM:619479
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cryptorchidism, Hyperalaninemia, Lateral ventricle dilatation, Micropenis OMIM:619847
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia, Dandy-Walker malformation ORPHA:3032
Joubert Syndrome 5
Occipital encephalocele, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar verm... OMIM:610188
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Bilateral cryptorchidism, Epispadias, Bulbous nose, Partial agenesis of... ORPHA:434179
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Anteverted nares, Bulbous nose, Brachycephaly, Wide nasal bridge, Ventriculomegaly OMIM:300958
Ataxia-Telangiectasia-Like Disorder
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypergonadotropic hypogonadism, Cerebella... ORPHA:251347
Neurooculorenal Syndrome
Hypoplasia of the bladder, Ectopic posterior pituitary, Decreased circulating cortisol level, Cer... OMIM:620305
Zaki Syndrome
Dilated fourth ventricle, Wide nose, Cerebellar vermis hypoplasia, Anteverted nares, Renal agenes... OMIM:619648
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Giant Axonal Neuropathy 1, Autosomal Recessive
Abnormal cerebellum morphology, Lateral ventricle dilatation OMIM:256850
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Hurthle cell thyroid adenoma, Neph... OMIM:145001
Acromelic Frontonasal Dysplasia
Encephalocele, Anterior pituitary hypoplasia, Broad nasal tip, Bifid nasal tip, Cryptorchidism, M... ORPHA:1827
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Frontal bossing, Narrow nasal ridge, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Bulbous ... OMIM:619512
Crandall Syndrome
Alopecia, Brittle hair, Hypoplasia of penis, Fine hair, Pili torti, Sparse body hair, Aplasia/Hyp... ORPHA:202
Ritscher-Schinzel Syndrome 1
Hypospadias, Depressed nasal bridge, Decreased response to growth hormone stimulation test, Hydro... OMIM:220210
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Peho-Like Syndrome
Cerebellar atrophy, Short nose, Ventriculomegaly OMIM:617507
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Hypomag... OMIM:613845
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Masa Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:303350
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Renal insufficiency, Frontal bossing, Depressed ... OMIM:608091
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Bainbridge-Ropers Syndrome
Anteverted nares, Prominent nasal bridge, Supernumerary nipple, Depressed nasal bridge, Precociou... OMIM:615485
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebellar atrophy, Urinary incontinence, Abnormal cerebrospinal fluid morphology, Atrophy/Degene... ORPHA:314404
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... OMIM:613095
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia, Prominent nasal bridge, Dolichocephaly, Prominent nose ORPHA:3270
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the brainstem ORPHA:250972
Phelan-Mcdermid Syndrome
Abnormality of the kidney, Bulbous nose, Wide nasal bridge, Concave nasal ridge, Polycystic kidne... OMIM:606232
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Peroxisome Biogenesis Disorder 2A (Zellweger)
Turricephaly, Cryptorchidism, Aminoaciduria, Hypoplasia of the thymus, Polycystic kidney dysplasi... OMIM:214110
Spinocerebellar Ataxia, Autosomal Recessive 33
Dilated fourth ventricle, Cerebellar hypoplasia OMIM:620208
Trisomy 1Q
Frontal bossing, Wide nose, Small scrotum, Depressed nasal bridge, Multicystic kidney dysplasia, ... ORPHA:261344
Cornelia De Lange Syndrome 2
Brachycephaly, Anteverted nares, Prominent nasal bridge, Ventriculomegaly OMIM:300590
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism, Abnormal cerebellum morphology, Increased CSF lactate, Lateral ventricle dilatati... ORPHA:565624
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... OMIM:615631
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Chromosome 3Pter-P25 Deletion Syndrome
Flat occiput, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Broad nasal tip, ... OMIM:613792
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hypoplasia of penis, Renal insufficiency, Anteverted nares, Flat occiput, Cryptorchidism, Brachyc... ORPHA:96147
Joubert Syndrome 18
Occipital encephalocele, Agenesis of cerebellar vermis, Renal cyst, Horseshoe kidney, Molar tooth... OMIM:614815
Fatty Acyl-Coa Reductase 1 Deficiency
Cerebellar atrophy, Short nose, Depressed nasal bridge, Dandy-Walker malformation ORPHA:438178
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Increased CSF protein concentration, Brachycephaly, Wide nasal bridge, Short nose, Agenesis of co... OMIM:218000
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation ORPHA:208447
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Lateral ventricle dilatation, Depressed nasal bridge, Hyposegmentation of neutrophil nuclei OMIM:620075
Pfeiffer Syndrome Type 2
Cloverleaf skull, Depressed nasal bridge, Choanal atresia, Aqueductal stenosis, Hydrocephalus, Ch... ORPHA:93259
Smith-Magenis Syndrome
Hypertriglyceridemia, Abnormality of the thyroid gland, Abnormal renal morphology, Wide nasal bri... OMIM:182290
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentr... ORPHA:49041
Dworschak-Punetha Neurodevelopmental Syndrome
Depressed nasal bridge, Dysplastic corpus callosum, Unilateral renal hypoplasia, Colpocephaly, Ve... OMIM:619955
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Gorlin Syndrome
Frontal bossing, Hypogonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Wide nasal bridge,... ORPHA:377
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/... ORPHA:1818
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI, Frontal bossing, Agenesis of corpus callosum, Wide nasal bridge ORPHA:166024
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Dilated fourth ventricle, Cerebellar atrophy, Cerebellar vermis atrophy ORPHA:1170
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Renal cyst... OMIM:611134
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Cerebellar atrophy, Cerebellar vermis hypoplasia, Thrombocytopenia, Wid... ORPHA:572798
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal nasal morphology, Hydrocephalus, Depressed nasal bridge, Abnormal localization of kidney ORPHA:83473
Chromosome 2P16.1-P15 Deletion Syndrome
Depressed nasal bridge, Hypoplasia of the pons, Cryptorchidism, Recurrent upper respiratory tract... OMIM:612513
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... ORPHA:85188
Craniotelencephalic Dysplasia
Frontal bossing, Craniosynostosis, Hydrocephalus, Frontal encephalocele, Cerebellar hypoplasia, A... ORPHA:1528
Gabriele-De Vries Syndrome
Broad nasal tip, Cryptorchidism, Lateral ventricle dilatation, Dolichocephaly, Ureteropelvic junc... OMIM:617557
Glutaric Acidemia I
Glutaric aciduria, Hydrocephalus, Ketonuria, Lateral ventricle dilatation OMIM:231670
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation, Renal hypoplasia OMIM:618914
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Anteverted nares, Plagiocephaly, Colpocephaly, Cerebellar hypoplasia, Midface retrusion OMIM:618731
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Accessory spleen, Cerebellar vermis hypoplasia, Wide nasal bridge, Depr... OMIM:619306
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Pontocerebellar Hypoplasia, Type 3
Cerebellar atrophy, Depressed nasal bridge, Hypoplasia of the pons, Brachycephaly, Hypoplasia of ... OMIM:608027
Pallister-Hall-Like Syndrome
Occipital encephalocele, Depressed nasal bridge, Hydrocephalus, Micropenis, Chiari type I malform... OMIM:241800
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation, Pontocerebellar atrophy OMIM:617854
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... OMIM:600785
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Acrofacial Dysostosis, Rodríguez Type
Aqueductal stenosis, Prominent nasal bridge, Renal hypoplasia/aplasia ORPHA:1788
Chromosome 6Q24-Q25 Deletion Syndrome
Frontal bossing, Anteverted nares, Hydrocephalus, Lateral ventricle dilatation, Dolichocephaly, A... OMIM:612863
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Aicardi Syndrome
Cerebellar vermis hypoplasia, Anteverted nares, Spina bifida, Precocious puberty, Partial agenesi... OMIM:304050
Brain Malformations With Or Without Urinary Tract Defects
Anteverted nares, Renal hypoplasia, Chiari type I malformation, Vesicoureteral reflux, Short nose... OMIM:613735
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
Fried Syndrome
Abnormal cerebellum morphology, Hydrocephalus, Thickened calvaria ORPHA:85335
Ritscher-Schinzel Syndrome 4
Cryptorchidism, Wide nasal bridge, Brachycephaly, Plagiocephaly, Mild fetal ventriculomegaly, Cer... OMIM:619435
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Hypothyroidism, Reticulocytopenia, Anisopoikilocyto... ORPHA:300298
Coach Syndrome 2
Cerebellar vermis hypoplasia, Hydrocephalus, Molar tooth sign on MRI, Hyperechogenic kidneys, Age... OMIM:619111
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Smith-Magenis Syndrome
Frontal bossing, Hypertriglyceridemia, Anteverted nares, Depressed nasal bridge, Renal hypoplasia... ORPHA:819
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Anteverted nares, Hypospadias, Short nose ORPHA:1355
Cebalid Syndrome
Turricephaly, Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, Brachycephaly, Pla... OMIM:618774
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Sparse body hair, Micropenis ORPHA:85274
Aicardi-Goutieres Syndrome 4
Cerebellar atrophy, Pancytopenia, Thrombocytopenia, Hydrocephalus, Splenomegaly, CSF lymphocytic ... OMIM:610333
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Anteverted nares, Narrow nasal ridge, Bulbous nose, Renal hypoplasia, Renal cyst, Ureteral agenes... OMIM:236500
Trichohepatoenteric Syndrome 1
Frontal bossing, Wide nose, Hypospadias, Anteverted nares, Increased mean platelet volume, Spleno... OMIM:222470
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Dilated fourth ventricle, Prominent nasal bridge, Broad nasal tip, Hypoplasia of the pons, Wide n... OMIM:300749
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Oliver-Mcfarlane Syndrome
Alopecia, Hypoplasia of penis, Long eyebrows, Long eyelashes, Sparse hair OMIM:275400
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum, Ventriculomegaly OMIM:614120
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Sparse hair, Widow's peak, Thick eyebrow OMIM:606242
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Hydrocephalus, Hypogonadism, Delayed puberty ORPHA:141333
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Frontal bossing, Plagiocephaly, Lateral ventricle dilatation, Dolichocephaly, Short nose, Midface... ORPHA:457279
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... OMIM:201170
Joubert Syndrome 35
Recurrent urinary tract infections, Multicystic kidney dysplasia, Depressed nasal bridge, Antever... OMIM:618161
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Microcephaly-Microcornea Syndrome, Seemanova Type
Hypogonadism, Brachycephaly ORPHA:2528
Orofaciodigital Syndrome I
Frontal bossing, Proteinuria, Underdeveloped nasal alae, Pancreatic cysts, Dolichocephaly, Hydroc... OMIM:311200
Stuve-Wiedemann Syndrome 1
Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contracture, Short tibia, Short phalanx... OMIM:601559
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal met... ORPHA:2370
Baraitser-Winter Syndrome 1
Anteverted nares, Cryptorchidism, Short nose, Wide nasal bridge, Trigonocephaly, Micropenis, Agen... OMIM:243310
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Cerebellar agenesis, H... OMIM:617967
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta... OMIM:617056
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Microcephaly 26, Primary, Autosomal Dominant
Prominent nasal bridge, Dysplastic corpus callosum, Wide nasal bridge, Extra-axial cerebrospinal ... OMIM:619179
Acrocephalopolydactyly
Abnormal renal morphology, Depressed nasal ridge, Oxycephaly, Hepatosplenomegaly, Short nose ORPHA:221054
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... OMIM:612926
Peroxisomal Acyl-Coa Oxidase Deficiency
Frontal bossing, Brachycephaly, Depressed nasal bridge, Wide nasal bridge OMIM:264470
Inverted Duplicated Chromosome 15 Syndrome
Frontal bossing, Unilateral renal agenesis, Broad nasal tip, Precocious puberty, Cryptorchidism, ... ORPHA:3306
Laurence-Moon Syndrome
Hypoplasia of penis, Renal insufficiency, Cryptorchidism, Brachycephaly, Type II diabetes mellitu... ORPHA:2377
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Inferior cerebella... OMIM:304100
Coxopodopatellar Syndrome
Abnormality of the knee, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morpholog... ORPHA:1509
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Flat occiput, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Plagiocephal... ORPHA:300570
Bresek Syndrome
Renal dysplasia, Hypoplasia of the bladder, Convex nasal ridge, Cryptorchidism, Hydrocephalus, Re... ORPHA:85284
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Agenesis of corpus callosum, Brachycephaly, Ventriculomegaly OMIM:109120
Greig Cephalopolysyndactyly Syndrome
Frontal bossing, Craniosynostosis, Hydrocephalus, Wide nasal bridge, Agenesis of corpus callosum ORPHA:380
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Decreased c... OMIM:620076
Orofaciodigital Syndrome Ix
Toe syndactyly, Hand polydactyly, Retinal coloboma, Camptodactyly, Short tibia OMIM:258865
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Frontal bossing, Craniosynostosis, Underdeveloped nasal alae, Hydrocephalus, Wide nasal bridge, D... ORPHA:1516
Warburg Micro Syndrome 3
Small scrotum, Hypoplastic labia minora, Short nose, Brachycephaly, Micropenis, Decreased testicu... OMIM:614222
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... OMIM:612924
Frontal Encephalocele
Encephalocele, Spina bifida, Hydrocephalus, Dolichocephaly, Calvarial skull defect ORPHA:1931
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Pancreatic fibrosis, Brachycephaly, Lateral ventricle dilatation, P... OMIM:263520
Bardet-Biedl Syndrome 8
Hypogonadism, Brachycephaly, Hypospadias, Renal dysplasia OMIM:615985
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic micr... OMIM:616084
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Anteverted nares, Hypospadias, Wide nasal bridge, Brachycephaly, Micropenis, Cerebellar hypoplasi... OMIM:616897
19P13.12 Microdeletion Syndrome
Narrow nasal bridge, Hypospadias, Anteverted nares, Craniosynostosis, Aplasia/Hypoplasia of the c... ORPHA:254346
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair OMIM:617073
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair OMIM:616099
Acrodysostosis 1 With Or Without Hormone Resistance
Anteverted nares, Depressed nasal bridge, Unilateral renal agenesis, Broad nasal tip, Cryptorchid... OMIM:101800
Noonan Syndrome 14
Prominent nasal bridge, Cryptorchidism, Lateral ventricle dilatation, Prominent nasolabial fold, ... OMIM:619745
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly OMIM:614830
Coach Syndrome 3
Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht... OMIM:619113
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Gomez-Lopez-Hernandez Syndrome
Fusion of the cerebellar hemispheres, Turricephaly, Cerebellar vermis hypoplasia, Anteverted nare... OMIM:601853
Aredyld
Generalized hypotrichosis OMIM:207780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem... OMIM:613153
2,4-Dienoyl-Coa Reductase Deficiency
Cerebellar atrophy, Hydrocephalus, Increased CSF lactate, Colpocephaly, Hyperlysinuria, Increased... OMIM:616034
Axin2-Related Attenuated Familial Adenomatous Polyposis
Sparse hair ORPHA:401911
Central Precocious Puberty In Male
Abnormality of the testis size, Pituitary microadenoma, Hydrocephalus, Hypothalamic hamartoma, Ab... ORPHA:649929
Joubert Syndrome 4
Renal insufficiency, Cerebellar vermis hypoplasia, Abnormal renal medulla morphology, Stage 5 chr... OMIM:609583
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short nose, Ventriculomegaly ORPHA:1495
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Cerebellar hypoplasia ORPHA:401815
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Anteverted nares OMIM:300884
Thomas Syndrome
Multicystic kidney dysplasia, Dolichocephaly, Renal hypoplasia/aplasia ORPHA:3316
Joubert Syndrome 14
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Prominent nasal bridg... OMIM:614424
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Crossed fused renal ectopia, Depressed nasal bridge, Unilateral renal agenesis, Brachycephaly, Am... OMIM:618142
Hogue-Janssen Syndrome 2
Anteverted nares, Unilateral renal agenesis, Hydrocephalus, Plagiocephaly, Agenesis of corpus cal... OMIM:616362
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Hypercalcemia, Decreased response to growth hormone stimulation test, Adrenal hypopl... OMIM:614732
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Retinal detachment, Short femur, Sandal gap, Rhizomelia, Cryptorchidism, Hypoplasi... OMIM:607143
Lathosterolosis
Hypoplasia of penis, Anteverted nares, Bulbous nose, Meningocele, Anisopoikilocytosis, Abnormal p... ORPHA:46059
Craniosynostosis, Herrmann-Opitz Type
Turricephaly, Abnormality of the upper urinary tract, Craniosynostosis, Abnormality of the urethr... ORPHA:2145
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Craniosynostosis, Macroscop... ORPHA:251004
Microphthalmia With Limb Anomalies
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... ORPHA:1106
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Frontal bossing, Depressed nasal bridge, Choanal atresia, Hydrocephalus, Abnormal renal morpholog... OMIM:207410
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Anteverted nares, Supernumerary nipple, Cr... ORPHA:261494
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Frontal bossing, Abnormal erythrocyte morphology, Splenomegaly... ORPHA:288
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... OMIM:612576
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic cysts, Splenom... OMIM:263200
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Flat occiput, Prominent nasal bridge, Cryptorchidism, Wide nasal bridge, Brachycephaly, Ventricul... OMIM:617452
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Narrow nasal bridge, Cerebellar vermis hypoplasia, Depressed nasal bridge, Precocious puberty, Cr... OMIM:620073
Nephronophthisis 18
Hydrocephalus, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointe... OMIM:615862
Hawkinsinuria
Sparse hair, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Fine hair ORPHA:2118
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Joubert Syndrome 37
Frontal bossing, Wide nose, Cerebellar vermis hypoplasia, Anteverted nares, Cryptorchidism, Wide ... OMIM:619185
Non-Syndromic Bicoronal Craniosynostosis
Brachycephaly, Midface retrusion ORPHA:35099
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair OMIM:129490
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, S... OMIM:224120
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Frontal bossing, Depressed nasal bridge, Anteverted nares, Unilatera... OMIM:618188
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Prader-Willi Syndrome Due To Translocation
Narrow nasal bridge, Flat occiput, Hypogonadotropic hypogonadism, External genital hypoplasia, De... ORPHA:177907
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Hydrocep... ORPHA:8
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Depressed nasal bridge, Nephroblastoma, Hydrocephalus, Leukemia, Ventriculomegaly OMIM:602501
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Frontal bossing, Decreased response to growth hormone stimulation test, Renal cyst, Colpocephaly,... OMIM:617260
Joubert Syndrome 7
Encephalocele, Brainstem dysplasia, Stage 5 chronic kidney disease, Renal cyst, Hypoplasia of the... OMIM:611560
Intellectual Developmental Disorder, Autosomal Dominant 23
Anteverted nares, Hypospadias, Depressed nasal bridge, Bulbous nose, Wide nasal bridge, Brachycep... OMIM:615761
5Q14.3 Microdeletion Syndrome
Short nose, Agenesis of cerebellar vermis, Anteverted nares, Ventriculomegaly ORPHA:228384
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti OMIM:607903
Perlman Syndrome
Hypoplasia of penis, Anteverted nares, Nephroblastoma, Cryptorchidism, Abnormal pancreas morpholo... ORPHA:2849
Clark-Baraitser Syndrome
Depressed nasal bridge, Anteverted nares, Brachycephaly, Dolichocephaly, Short nose, Low hanging ... OMIM:617752
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Schistocytosis, Elevated circulating cre... OMIM:274150
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Frontal bossing, Cerebellar vermis hypoplasia, Renal hypoplasia, Renal cyst... OMIM:618460
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Multiple Acyl-Coa Dehydrogenase Deficiency
Depressed nasal bridge, Elevated circulating creatine kinase concentration, Elevated circulating ... ORPHA:26791
Craniofrontonasal Dysplasia
Frontal bossing, Hypospadias, Craniosynostosis, Depressed nasal ridge, Wide nasal bridge, Brachyc... ORPHA:1520
Temple Syndrome
Frontal bossing, Wide nose, Hypertriglyceridemia, Anteverted nares, Depressed nasal bridge, Matur... OMIM:616222
Renal-Hepatic-Pancreatic Dysplasia 1
Renal insufficiency, Hepatic cysts, Pancreatic cysts, Asplenia, Splenomegaly, Stage 5 chronic kid... OMIM:208540
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... OMIM:235400
Acalvaria
Spina bifida, Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Calvarial s... ORPHA:945
Galloway-Mowat Syndrome
Aqueductal stenosis, Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:2065
Spinocerebellar Ataxia 2
Dilated fourth ventricle, Cerebellar atrophy, Urinary incontinence, Urinary bladder sphincter dys... OMIM:183090
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Cryptorchidism, Slender nose, Brachycephaly, Short nose OMIM:615419
Frontonasal Dysplasia 2
Encephalocele, Agenesis of cerebellar vermis, Aplasia of the nasal bone, Cleft ala nasi, Antevert... OMIM:613451
Apert Syndrome
Depressed nasal bridge, Choanal atresia, Sagittal craniosynostosis, Craniosynostosis, Cryptorchid... OMIM:101200
Smith-Kingsmore Syndrome
Frontal bossing, Ventriculomegaly, Depressed nasal bridge, Cryptorchidism, Short nose, Midface re... OMIM:616638
49,Xxxxy Syndrome
Renal dysplasia, Hypoplasia of penis, Small scrotum, Depressed nasal bridge, Wide nose, Renal hyp... ORPHA:96264
Schopf-Schulz-Passarge Syndrome
Ridged nail, Narrow nail, Thin nail, Poroma, Onycholysis, Nail dystrophy, Small nail, Sparse hair... OMIM:224750
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... ORPHA:85170
17Q21.31 Microduplication Syndrome
Short nose, Anteverted nares, Delayed puberty ORPHA:217340
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Chiari type I malformation, Anteverted nares, Brachycephaly OMIM:618859
Machado-Joseph Disease Type 1
Dilated fourth ventricle, Neurogenic bladder, Cerebellar atrophy, Substantia nigra gliosis ORPHA:276238
Machado-Joseph Disease Type 2
Dilated fourth ventricle, Neurogenic bladder, Cerebellar atrophy, Substantia nigra gliosis ORPHA:276241
Cataract-Intellectual Disability-Hypogonadism Syndrome
Depressed nasal bridge, Hypogonadotropic hypogonadism, Cryptorchidism, Brachycephaly, Midface ret... ORPHA:1387
Lathosterolosis
Anteverted nares, Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Myelomeni... OMIM:607330
Trisomy X
Multicystic kidney dysplasia, Secondary amenorrhea, Renal hypoplasia/aplasia ORPHA:3375
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... ORPHA:166016
Chromosome 5P13 Duplication Syndrome
Frontal bossing, Turricephaly, Craniosynostosis, Bulbous nose, Wide nasal bridge, Brachycephaly, ... OMIM:613174
Trichodental Dysplasia
Sparse hair, Brittle hair, Slow-growing hair, Fine hair OMIM:601453
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Hydrocephalus, Decreased circulating total IgM, Lateral ventricle dilatation, Decre... OMIM:612301
Ogden Syndrome
Maternal diabetes, Iron deficiency anemia, Polycythemia, Global glomerulosclerosis, Depressed nas... OMIM:300855
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Cone/cone-rod dystrophy, Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Tibial bo... OMIM:608940
Hypotrichosis 12
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... OMIM:615885
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Hydrocephalus, Male pseudohermaphrodit... ORPHA:2075
Lig4 Syndrome
Pancytopenia, Prominent nose, Cryptorchidism, Wide nasal bridge, Brachycephaly, Acute lymphoblast... OMIM:606593
Weaver Syndrome
Flat occiput, Depressed nasal bridge, Cryptorchidism, Hydrocele testis, Lateral ventricle dilatat... OMIM:277590
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Wide nose, Flat occiput, Prominent nasal bridge, Cryptorchidism, Brachycephaly, Ventriculomegaly ORPHA:505237
Rhombencephalosynapsis
Fusion of the cerebellar hemispheres, Agenesis of cerebellar vermis, Anteverted nares, Hydrocepha... ORPHA:59315
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Microcephaly-Micromelia Syndrome
Craniosynostosis, Absent thumb, Absent radius, Micromelia, Micrognathia, Humeroradial synostosis,... OMIM:251230
Joubert Syndrome 1
Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Anteverted nares, Agenesis of cer... OMIM:213300
Trichothiodystrophy 9, Nonphotosensitive
Sparse eyebrow, Tiger tail banding, Sparse hair, Nail dystrophy OMIM:619692
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... OMIM:258860
Joubert Syndrome 9
Encephalocele, Molar tooth sign on MRI, Stage 5 chronic kidney disease, Ventriculomegaly OMIM:612285
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Depressed nasal bridge, Cry... ORPHA:251066
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Prominent nasal bridge, Supernumerary nipple, Wide nasal bridge, Br... ORPHA:261349
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Depressed nasal bridge, Anteverted nares, Hydrocephalus, Micropenis, Plagioceph... OMIM:617822
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Renal cyst, Polycystic kidney dysplasia, Dolichocephaly OMIM:614091
X-Linked Intellectual Disability, Cantagrel Type
Short nose, Ventriculomegaly ORPHA:85277
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Frontal bossing, Hypoplasia of penis, Depressed nasal bridge, Supernumerary nipple, Cryptorchidis... ORPHA:1812
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha... OMIM:613102
Joubert Syndrome 39
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar vermis hypoplasia, Polycystic kidney... OMIM:619562
Vacterl With Hydrocephalus
Renal agenesis, Spina bifida, Renal hypoplasia/aplasia, Aqueductal stenosis, Cryptorchidism, Hydr... ORPHA:3412
Hajdu-Cheney Syndrome
Wide nose, Hypospadias, Anteverted nares, Cryptorchidism, Hydrocephalus, Renal cyst, Polycystic k... OMIM:102500
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Diabetes mellitus, Increased circulating thyroglobulin level, Depressed nasal bridge, Choanal atr... OMIM:610199
Jeune Syndrome
Abnormality of retinal pigmentation, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Post... ORPHA:474
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow ORPHA:79133
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Abnormality of the uterus, Hypocalcemia, Vesicoureteral reflux, Hypothy... ORPHA:567
Joubert Syndrome With Renal Defect
Encephalocele, Renal insufficiency, Cerebellar vermis hypoplasia, Anteverted nares, Prominent nas... ORPHA:220497
Joubert Syndrome 10
Molar tooth sign on MRI, Frontal bossing, Cerebellar vermis hypoplasia, Wide nasal bridge OMIM:300804
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Rhizomelia, Postaxial polydactyly, Cryptorchidism, Squared iliac bones, Preaxi... OMIM:616300
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Joubert Syndrome 13
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Frontal encephalocele, Chiari malformation ORPHA:261102
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de... ORPHA:970
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fingernail ORPHA:2251
Edinburgh Malformation Syndrome
Frontal bossing, Anteverted nares, Choanal atresia, Hydrocephalus, Short nose ORPHA:1895
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Thickened calvaria, Brachycephaly, Craniosynostosis ORPHA:178377
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Broad nasal tip, Wide nasal bridge, Plagiocephaly, Left unicoronal synostosis, Vesicoureteral ref... OMIM:614749
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Multicystic kidney dysplasia, Dandy-Walker malformation OMIM:607361
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda... OMIM:609945
Choroidal Atrophy-Alopecia Syndrome
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... ORPHA:1433
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine level, Hyperinsulinemia, Elevated circulating creatinine concentration,... ORPHA:230
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Sparse hair, Alopecia, Long eyelashes, Micropenis ORPHA:3363
Joubert Syndrome 30
Cerebellar atrophy, Ventriculomegaly, Molar tooth sign on MRI, Superior cerebellar dysplasia, Dan... OMIM:617622
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia OMIM:173900
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... ORPHA:113
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Fetal Trimethadione Syndrome
Depressed nasal bridge, Hypospadias, Brachycephaly, Ambiguous genitalia, Short nose, Midface retr... ORPHA:1913
Kleefstra Syndrome Due To A Point Mutation
Abnormality of the kidney, Precocious puberty, Brachycephaly, Plagiocephaly, Cerebellar hypoplasi... ORPHA:261652
German Syndrome
Depressed nasal bridge, Cryptorchidism, Brachycephaly, Wide nasal bridge, Dolichocephaly, Ambiguo... ORPHA:2077
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Multicystic kidney dysplasia, Agenesis of c... OMIM:615287
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Hemoglobinuria, Unconjugated hyperbili... OMIM:300908
Thanatophoric Dysplasia Type 2
Encephalocele, Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Abnormality of the kidn... ORPHA:93274
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Anteverted nares ORPHA:2015
Den Hoed-De Boer-Voisin Syndrome
Recurrent urinary tract infections, Brachycephaly, Lateral ventricle dilatation, Midface retrusio... OMIM:619229
Acromelic Frontonasal Dysostosis
Encephalocele, Broad nasal tip, Bifid nasal tip, Cryptorchidism, Parietal foramina, Choroid plexu... OMIM:603671
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... OMIM:618278
Joubert Syndrome 31
Molar tooth sign on MRI, Ventriculomegaly OMIM:617761
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Cerebellar hypoplasia, Hypoplasia of the brainstem ORPHA:352682
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... ORPHA:90368
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Cerebellar atrophy, Ureteral stenosis, Depressed nasal bridge, Anteverted nares, Hydroureter, Hyp... OMIM:615398
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Campomelia, Cumming Type
Pancreatic cysts, Polysplenia, Polycystic kidney dysplasia OMIM:211890
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... OMIM:268305
Indomethacin Embryofetopathy
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology ORPHA:1909
8Q12 Microduplication Syndrome
Vesicoureteral reflux, Brachycephaly, Wide nasal bridge ORPHA:228399
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Hydrocephalus, Anteverted nares, Short nose ORPHA:2701
Joubert Syndrome 20
Molar tooth sign on MRI, Renal cyst OMIM:614970
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen OMIM:620085
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Cerebellar malformation, Hydrocephalus, Occipital encephalocele, Ventriculomegaly ORPHA:324416
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... OMIM:144750
Machado-Joseph Disease
Dilated fourth ventricle, Urinary bladder sphincter dysfunction, Cerebellar atrophy OMIM:109150
Meckel Syndrome 14
Occipital encephalocele, Anteverted nares, Decreased calvarial ossification, Holoprosencephaly, P... OMIM:619879
Orthostatic Hypotension 1
Reduced circulating prolactin concentration, Increased blood urea nitrogen, Nasal congestion, Ret... OMIM:223360
Crouzon Syndrome
Frontal bossing, Sagittal craniosynostosis, Hydrocephalus, Brachycephaly, Lambdoidal craniosynost... OMIM:123500
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus, Short nose, Anteverted nares, Prominent nasal bridge OMIM:300558
Beta-Thalassemia Major
Hypoparathyroidism, Frontal bossing, Extramedullary hematopoiesis, Decreased mean corpuscular hem... ORPHA:231214
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Agenesis of cerebellar vermis, Anteverted nares, Cerebellar vermis hypoplasia, Prominent nose, Cr... OMIM:210710
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis, Flared nostrils, Brachycephaly, Thick nasal alae, Midface retrusion OMIM:619504
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Thin nail, Absent eyelashes, Nail dystrophy, Sparse hair OMIM:618625
14Q24.1Q24.3 Microdeletion Syndrome
Prominent nasal bridge, Ectopic kidney, Cryptorchidism, Wide nasal bridge, Short nose, Midface re... ORPHA:401935
Lig4 Syndrome
Hypoplasia of penis, Pancytopenia, Cryptorchidism, Leukocytosis, Wide nasal bridge, Brachycephaly... ORPHA:99812
Lessel-Kubisch Syndrome
Sparse pubic hair, Premature graying of hair, Renal insufficiency, Renal hypoplasia OMIM:618681
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Machado-Joseph Disease Type 3
Dilated fourth ventricle, Neurogenic bladder, Cerebellar atrophy, Substantia nigra gliosis ORPHA:276244
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Anteverted nares, Choanal atresia, Hydrocephalus, Myelomeningocele, Short... ORPHA:1914
2Q32Q33 Microdeletion Syndrome
Decreased testicular size, Anteverted nares, Prominent nasal bridge, Brachycephaly, Convex nasal ... ORPHA:251019
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Short nose, Midface retrusion OMIM:618379
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Flat occiput, Anteverted nares, Cerebellar vermis hypoplasia, Wide nasal bri... OMIM:619383
Renal Hypoplasia, Bilateral
Hyponatremia, Proteinuria, Cryptorchidism, Chronic kidney disease, Hyperkalemia, Renal hypoplasia... ORPHA:97362
Diencephalic Syndrome
Abnormality of the hypothalamus-pituitary axis, Hydrocephalus, Long penis ORPHA:1672
Intellectual Developmental Disorder, Autosomal Dominant 26
Depressed nasal bridge, Anteverted nares, Brachycephaly, Wide nasal bridge, Prominent nasal tip OMIM:615834
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Cerebellar vermis hypoplasia, Anteverted nares, Unilatera... OMIM:216360
Intellectual Developmental Disorder, Autosomal Recessive 68
Cerebellar atrophy, Hydrocephalus, Wide nasal bridge OMIM:618302
Thanatophoric Dysplasia
Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Abnormality of the kidney, Hydrocephal... ORPHA:2655
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts ORPHA:3033
Iron-Refractory Iron Deficiency Anemia
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... OMIM:206200
Warburg Micro Syndrome 4
Cerebellar atrophy, Small scrotum, Anteverted nares, Prominent nasal bridge, Cryptorchidism, Brac... OMIM:615663
Trisomy 20P
Frontal bossing, Anteverted nares, Hypospadias, Abnormality of the kidney, Spina bifida, Cryptorc... ORPHA:261318
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Ventriculomegaly, Depressed nasal bridge, Choanal atresia, Prominent nose, Bulbous nose, Wide nas... OMIM:300968
Spinocerebellar Ataxia 1
Dilated fourth ventricle, Urinary bladder sphincter dysfunction, Olivopontocerebellar atrophy, Sp... OMIM:164400
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... ORPHA:98870
Diabetic Embryopathy
Ureteral duplication, Frontal bossing, Renal hypoplasia/aplasia, Cryptorchidism, Hydrocephalus, S... ORPHA:1926
Pfeiffer Syndrome
Cloverleaf skull, Depressed nasal bridge, Choanal atresia, Hydrocephalus, Coronal craniosynostosi... OMIM:101600
Focal Facial Dermal Dysplasia 3, Setleis Type
Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes OMIM:227260
Meckel Syndrome, Type 9
Ambiguous genitalia, Occipital encephalocele, Multicystic kidney dysplasia OMIM:614209
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Brachycephaly, Vesicoureteral reflu... OMIM:618828
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the spleen, Hydrocephalus, Abnormality of the ureter, Re... ORPHA:1834
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Developmental Delay With Or Without Dysmorphic Facies And Autism
Small scrotum, Anteverted nares, Depressed nasal bridge, Supernumerary nipple, Prominent nasal br... OMIM:618454
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Hydrocephalus, Tubular luminal dilatation, Renal corticomedullary cysts, Hyp... OMIM:219730
Muenke Syndrome
Plagiocephaly, Hydrocephalus, Brachycephaly, Coronal craniosynostosis ORPHA:53271
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Encephalocele, Hypospadias, Choanal atresia, Cryptorchidism, Penoscrotal transposi... OMIM:619148
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Frontal bossing, Depressed nasal bridge, Craniosynostosis, Bilateral cryptorchidism, Brachycephaly ORPHA:314575
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos... ORPHA:824
Congenital Toxoplasmosis
Anemia, Thrombocytopenia, Hydrocephalus, Ventriculomegaly ORPHA:858
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Prune Belly Syndrome
Multicystic kidney dysplasia, Recurrent urinary tract infections, Renal insufficiency, Hydrourete... ORPHA:2970
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Ventriculomegaly, Anteverted nares, Renal agen... OMIM:220500
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Abnormal renal morphology, Renal hypoplasi... OMIM:609053
Acrodysostosis
Anteverted nares, Depressed nasal bridge, Cryptorchidism, Irregular menstruation, Depressed nasal... ORPHA:950
Wieacker-Wolff Syndrome, Female-Restricted
Brachycephaly, Anteverted nares, Urinary incontinence, Ventriculomegaly OMIM:301041
Distal Duplication 18Q
Hypoplasia of penis, Anteverted nares, Choanal atresia, Prominent nasal bridge, Cryptorchidism, D... ORPHA:1716
Orotic Aciduria
Orotic acid crystalluria, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Coxoauricular Syndrome
Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe... ORPHA:1508
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... ORPHA:94088
Distal Deletion 12Q
Frontal bossing, Diabetes mellitus, Unilateral cryptorchidism, Anteverted nares, Maturity-onset d... ORPHA:96149
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Hydrocephalus, Midline brainstem cleft, Fusion of the left and right thal... OMIM:617542
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Enuresis, Short nose, Broad nasal tip OMIM:613670
Infantile Sialic Acid Storage Disease
Anteverted nares, Conjugated hyperbilirubinemia, Splenomegaly, Hydrocephalus, Vacuolated lymphocy... OMIM:269920
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... ORPHA:1809
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Aqueductal stenosis, Splenomegaly ORPHA:3035
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Arthrogryposis Multiplex Congenita 5
Normocytic anemia, Anteverted nares, Acanthocytosis, Wide nasal bridge, Prominent occiput, Promin... OMIM:618947
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Methylmalonic acidemia, Brachycephaly, Methylmalonic aciduria, Hyperhomocystinemia, Homocystinuria OMIM:309541
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Agenesis of corpus callosum, Renal ... OMIM:613091
Rhyns Syndrome
Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Branchiootorenal Syndrome 1
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Euthyroid goiter, Polycystic kidne... OMIM:113650
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Anteverted nares, Decreased response to growth hormone stimul... OMIM:615873
Peroxisome Biogenesis Disorder 11A (Zellweger)
Depressed nasal bridge, Multiple renal cysts, Anteverted nares, Renal cyst OMIM:614883
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Depressed nasal bridge, Choanal atresia, Bilateral cryptorchidism, Coronal hypo... OMIM:619859
1Q44 Microdeletion Syndrome
Frontal bossing, Hydrocephalus, Horseshoe kidney, Biparietal narrowing, Vesicoureteral reflux, Ag... ORPHA:238769
Apert Syndrome
Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Choanal atresia, Hydrocephalus, Chiari... ORPHA:87
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Plagiocephaly, Flat occiput, Brachycephaly ORPHA:2898
Holoprosencephaly 7
Flat occiput, Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hypoplastic nasa... OMIM:610828
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hyp... ORPHA:2183
Moynahan Syndrome
Sparse hair, Alopecia ORPHA:2574
Rhiny
Short nose, Anteverted nares OMIM:180360
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Cerebellar hypoplasia, Brachycephaly, Wide nasal bridge ORPHA:352530
Hepatorenocardiac Degenerative Fibrosis
Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib... OMIM:619902
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Hydronep... OMIM:613390
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair ORPHA:1174
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Depressed nasal bridge, Cryptorchidism, Bulbous nose, Wide nasal bridge, Brachycephaly, Plagiocep... ORPHA:369891
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Cryptorchidism, Depressed nasal bridge, Hypospadias, Short nose OMIM:616910
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the nose, Multicystic kidney dysplasia, Cryptorchidism, Hydrocephalu... ORPHA:3301
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Cryptorchidism, Multiple renal cysts, Renal hypoplasia/aplasia ORPHA:1166
Martsolf Syndrome 1
Enlarged sylvian cistern, Hypogonadotropic hypogonadism, Depressed nasal bridge, Broad nasal tip,... OMIM:212720
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Short nose, Spina bifida occulta, Brachycephaly ORPHA:1514
14Q22Q23 Microdeletion Syndrome
Small scrotum, Anterior pituitary hypoplasia, Adrenal hypoplasia, Underdeveloped nasal alae, Cryp... ORPHA:264200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Duplicated collecting system, Bilateral fetal pyelectasis, Anteverted nares, Depressed nasal brid... OMIM:300868
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Tuberous Sclerosis Complex
Renal insufficiency, Abnormality of the kidney, Pancreatic endocrine tumor, Pituitary adenoma, Ch... ORPHA:805
6P22 Microdeletion Syndrome
Hydrocephalus, Hydronephrosis ORPHA:251046
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Spina bifida, Asplenia, Cryptorchidism, Bulbous nose, Horse... ORPHA:99776
Cerebellar-Facial-Dental Syndrome
Anteverted nares, Abnormal midbrain morphology, Hypoplasia of the pons, Cryptorchidism, Wide nasa... ORPHA:444072
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocyt... OMIM:300367
Lissencephaly 5
Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Hypoplasia of the brainstem... OMIM:615191
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia, Anisopoikilo... ORPHA:35858
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Fg Syndrome 5
Depressed nasal bridge, Hypospadias, Anteverted nares, Trigonocephaly, Short nose OMIM:300581
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Depressed nasal bridge, Hydrocephalus, Plagiocephaly, Colpocephaly, Short nose, Ventriculomegaly OMIM:619833
Atelosteogenesis Type Iii
Absent humerus, Epiphyseal stippling of the humerus, Short tubular bones of the hand, Abnormality... ORPHA:56305
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Increased total bilirubin OMIM:174050
3C Syndrome
Frontal bossing, Hypoplasia of penis, Hypospadias, Depressed nasal bridge, Adrenal hypoplasia, Hy... ORPHA:7
Temple Syndrome
Frontal bossing, Decreased response to growth hormone stimulation test, Precocious puberty, Crypt... ORPHA:254516
Autosomal Dominant Omodysplasia
Bifid scrotum, Frontal bossing, Hypoplasia of penis, Depressed nasal bridge, Cryptorchidism, Ambi... ORPHA:93328
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Premature ovarian insufficiency, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, ... ORPHA:2928
Chromosome 6Pter-P24 Deletion Syndrome
Frontal bossing, Depressed nasal bridge, Hydrocephalus, Brachycephaly, Agenesis of corpus callosu... OMIM:612582
Kabuki Syndrome 1
Ureteropelvic junction obstruction, Hemolytic anemia, Crossed fused renal ectopia, Premature thel... OMIM:147920
X-Linked Intellectual Disability, Sutherland-Haan Type
Brachycephaly, Decreased testicular size ORPHA:93950
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Anteverted nares, Depressed nasal ridge, Brachycephaly, Prominent occiput, Plagiocephaly, Dolicho... OMIM:618672
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... ORPHA:2378
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Frontal bossing, Depressed nasal bridge, Cryptorchidism, Bulbous nose, Brachycephaly, Plagiocephaly OMIM:616789
Sickle Cell Disease
Hemolytic anemia, Renal insufficiency, Splenomegaly, Leukocytosis, Splenic infarction, Hematuria,... OMIM:603903
Endocrine-Cerebroosteodysplasia
Small scrotum, Hypospadias, Aplasia/Hypoplasia of the cerebellum, Adrenal hypoplasia, Cryptorchid... OMIM:612651
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse body hair OMIM:618535
Cockayne Syndrome Type 1
Renal insufficiency, Proteinuria, Cryptorchidism, Increased blood urea nitrogen, Male hypogonadis... ORPHA:90321
Paroxysmal Nocturnal Hemoglobinuria
Leukopenia, Hemoglobinuria, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic anemia, Reti... ORPHA:447
Joubert Syndrome With Oculorenal Defect
Encephalocele, Renal insufficiency, Cerebellar vermis hypoplasia, Anteverted nares, Prominent nas... ORPHA:2318
48,Xxxy Syndrome
Renal dysplasia, Hypoplasia of penis, Small scrotum, Cryptorchidism, Depressed nasal ridge, Brach... ORPHA:96263
Xq28 (MECP2) duplication
Functional abnormality of the bladder, Depressed nasal bridge, Brachycephaly, Decreased circulati... DECIPHER:45
Scalp-Ear-Nipple Syndrome
Frontal bossing, Renal insufficiency, Depressed nasal bridge, Anteverted nares, Unilateral renal ... OMIM:181270
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Frontal bossing, Craniosynostosis, Underdeveloped nasal alae, Abnormality of the endocrine system... ORPHA:166035
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Vesicourete... OMIM:619869
Congenital Heart Defects And Ectodermal Dysplasia
Frontal bossing, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Brachycephaly OMIM:617364
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus, Wide nasal base, Wide nasal bridge OMIM:616521
Hypotrichosis 14
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair OMIM:618275
Roberts Syndrome
Clitoral hypertrophy, Craniosynostosis, Underdeveloped nasal alae, Cryptorchidism, Long penis, Br... ORPHA:3103
Periventricular Nodular Heterotopia 7
Anteverted nares, Cryptorchidism, Choroid plexus cyst, Dolichocephaly, Short nose OMIM:617201
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp... OMIM:602400
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Frontal bossing, Bulbous nose, Hydrocephalus, Colpocephaly, Agenesis... OMIM:615219
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Glomerulopathy, Hemolytic-uremic syndrome, Hy... ORPHA:2169
16Q24.3 Microdeletion Syndrome
Frontal bossing, Ventriculomegaly, Anteverted nares, Cryptorchidism, Colpocephaly, Increased mean... ORPHA:261250
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation ORPHA:2148
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus OMIM:300886
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Short thumb, Hip disloca... ORPHA:968
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair OMIM:104100
Joubert Syndrome 36
Molar tooth sign on MRI, Anteverted nares OMIM:618763
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Anteverted nares, Hypospadias, Depressed nasal bridge, Prominent nasal bridge, Cryptorchidism, Wi... OMIM:300260
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Frontal bossing, Short nose, Depressed nasal ridge, Hydrocephalus OMIM:300863
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation OMIM:607485
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Cutis Laxa, Autosomal Recessive, Type Iiia
Frontal bossing, Narrow nasal ridge, Cryptorchidism, Low plasma citrulline, Brachycephaly, Hypera... OMIM:219150
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Frontal bossing, Anteverted nares, Prominent nasal bridge, Prominent nose, Bulbous nose, Brachyce... OMIM:616801
Weiss-Kruszka Syndrome
Anteverted nares, Colpocephaly, Short nose, Agenesis of corpus callosum, Ventriculomegaly OMIM:618619
Cerebrooculonasal Syndrome
Encephalocele, Frontal bossing, Ventriculomegaly, Cerebellar vermis hypoplasia, Anteverted nares,... OMIM:605627
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Prominent nasal bridge, Urinary incontinence, Brachyceph... OMIM:618885
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Anteverted nares, Hypospadias, Depressed nasal bridge, Cryptorchidism, Congeni... OMIM:614613
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Precocious puberty, Hypoplasia of the pons, Rhombencephalosynapsis,... ORPHA:280195
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Dermotrichic Syndrome
Frontal bossing, Depressed nasal bridge, Aminoaciduria, Short nose, Anemia ORPHA:99688
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Anteverted nares, Brachycephaly, Wide nasal bridge, Lobar holoprosencephaly, Skull asymmetry, Sho... OMIM:614701
Alexander Disease
Frontal bossing, Diabetes mellitus, Aqueductal stenosis, Precocious puberty, Hydrocephalus, Agene... ORPHA:58
Pde4D Haploinsufficiency Syndrome
Frontal bossing, Depressed nasal bridge, Hypospadias, Prominent nose, Cryptorchidism, Brachycepha... ORPHA:439822
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominent nose, Hydrocephalus, Scaphocephaly, Cranial asymmetry, Wide nasal bridge, Renal tubular... OMIM:614886
Lowry-Maclean Syndrome
Hypospadias, Choanal atresia, Craniosynostosis, Bilateral cryptorchidism, Hydrocephalus, Trigonoc... ORPHA:2409
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Anencephaly, Renal cyst, Dandy-Walker malformation OMIM:603194
Peho Syndrome
Cerebellar atrophy, Anteverted nares, Hydrocephalus, Biparietal narrowing, Atrophy/Degeneration a... ORPHA:2836
Intellectual Developmental Disorder, X-Linked 91
Short nose OMIM:300577
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus, Cerebellar hypoplasia, Hypoplasia of the brainstem OMIM:618174
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... OMIM:228900
Macrocephaly-Intellectual Disability-Autism Syndrome
Frontal bossing, Depressed nasal bridge, Penile freckling, Hurthle cell thyroid adenoma, Thyroid ... ORPHA:210548
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen... ORPHA:2890
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Depressed nasal bridge, Prominent nasal bridge, Supernumerary nipple, Unilateral renal agenesis, ... OMIM:619951
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Diabetes mellitus, Septate vagina, Unil... ORPHA:2237
Plasminogen Deficiency, Type I
Hydrocephalus, Recurrent upper respiratory tract infections, Nephrolithiasis, Cerebellar hypoplas... OMIM:217090
Fanconi Anemia, Complementation Group R
Hydrocephalus, Chiari type I malformation, Bone marrow hypocellularity, Pelvic kidney, Anemia OMIM:617244
Desanto-Shinawi Syndrome
Bulbous nose, Depressed nasal bridge, Brachycephaly, Midface retrusion OMIM:616708
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... ORPHA:730
Frontofacionasal Dysplasia
Encephalocele, Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Depressed nasal ridge, B... ORPHA:1791
Verheij Syndrome
Anteverted nares, Renal agenesis, Broad nasal tip, Wide nasal bridge, Renal cyst, Renal hypoplasi... OMIM:615583
Intellectual Developmental Disorder, X-Linked 1
Brachycephaly OMIM:309530
Alexander Disease
Hydrocephalus, Increased CSF protein concentration, Abnormal dentate nucleus morphology OMIM:203450
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormal femur morphology, Abnorm... ORPHA:429
Renal And Mullerian Duct Hypoplasia
Frontal bossing, Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced ureth... OMIM:266810
Chromosome 17P13.1 Deletion Syndrome
Turricephaly, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Spina bifida, Bul... OMIM:613776
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Carpenter Syndrome 1
Midface retrusion, Hydroureter, Depressed nasal bridge, External genital hypoplasia, Sagittal cra... OMIM:201000
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Brachycephaly OMIM:309545
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Trigonocephaly, Short nose, Cerebellar atrophy, Anteverted nares OMIM:618506
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, ... OMIM:613155
Charge Syndrome
Bifid scrotum, Hypogonadotropic hypogonadism, Choanal atresia, Depressed nasal bridge, Aplasia/Hy... ORPHA:138
Cerebrofaciothoracic Dysplasia
Wide nose, Cerebellar vermis hypoplasia, Brachycephaly, Short nose, Midface retrusion, Ventriculo... ORPHA:1394
Mirage Syndrome
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Hypergonadotropic hypogonadism, Ad... OMIM:617053
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Spontaneous hemolytic crises, Conjugated hyperbilirubinemia, Decreas... ORPHA:168577
Camptodactyly Syndrome, Guadalajara Type 1
Depressed nasal bridge, Anteverted nares, Spina bifida, Brachycephaly, Short nose, Midface retrusion ORPHA:1327
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Anteverted nares, Cryptorchidism, Wide nasal bridge, B... ORPHA:2059
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Frontal bossing, Depressed nasal bridge, Anteverted nares, Brachycephaly, Oligosacchariduria, Sho... ORPHA:163649
Neural Tube Defects, Susceptibility To
Urinary incontinence, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Trigonocephaly 1
Craniosynostosis, Long penis, Wide nasal bridge, Trigonocephaly, Short nose OMIM:190440
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia, Frontal bossing, Anteverted nares, Prominent nasal bridge, Fused labia minora, Brac... OMIM:608688
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus, Frontal bossing, Depressed nasal bridge, Anteverted nares, Unilatera... ORPHA:1064
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Craniosynostosis, Prominent nose, Bulbous nose, Wide n... DECIPHER:81
Raine Syndrome
Hydroureter, Depressed nasal bridge, Choanal atresia, Hydrocephalus, Brachycephaly, Plagiocephaly... OMIM:259775
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Cryptorchidism, Bulbous nose, Wide nasal bridge, Ambiguous genitalia... ORPHA:1237
Intellectual Disability-Strabismus Syndrome
Decreased serum insulin-like growth factor 1, Hypospadias, Decreased response to growth hormone s... ORPHA:363528
Oculocerebral Hypopigmentation Syndrome, Cross Type
Ureteral stenosis, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Abnormality of the u... ORPHA:2719
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Depressed nasal bridge, Choanal atresia, Bulbous nose, Cerebellar hypoplasia, Short nose, Ventric... ORPHA:284169
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem, Cerebel... OMIM:615181
3-Methylglutaconic Aciduria, Type Viia
Cerebellar atrophy, Anisopoikilocytosis, 3-Methylglutaconic aciduria, Neutropenia, Anemia OMIM:619835
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Frontal bossing, Hydrocephalus, Depressed nasal ridge, Cerebellar hypoplasia, Short nose ORPHA:163966
Spinocerebellar Ataxia 32
Cerebellar atrophy, Azoospermia, Testicular atrophy, Infertility OMIM:613909
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Frontal bossing, Turricephaly, Hydrocephalus, Wide nasal bridge, Hydrocele testis, Plagiocephaly,... OMIM:613603
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Pancytopenia, Proteinuria, Decreased response to growth ho... ORPHA:1855
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair ORPHA:2985
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Frontal bossing, Depressed nasal bridge, Bulbous nose, Brachycephaly, Plagiocephaly, Short nose, ... OMIM:618430
2Q23.1 Microdeletion Syndrome
Cryptorchidism, Hypoplasia of penis, Brachycephaly ORPHA:228402
Developmental And Epileptic Encephalopathy 50
Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hyperammonemia, Renal tubular acidosis, Orot... OMIM:616457
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Cerebellar atrophy, Brachycephaly ORPHA:320385
Antley-Bixler Syndrome
Frontal bossing, Turricephaly, Anteverted nares, Choanal atresia, Craniosynostosis, Abnormal rena... ORPHA:83
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Rickets, Trapezoidal distal femor... OMIM:307800
Aminopterin Syndrome Sine Aminopterin
Cryptorchidism, Frontal bossing, Brachycephaly OMIM:600325
Beck-Fahrner Syndrome
Extra-axial cerebrospinal fluid accumulation, Brachycephaly, Ventriculomegaly OMIM:618798
Meckel Syndrome, Type 6
Abnormal internal genitalia, Absent gallbladder, Occipital encephalocele, Hydrocephalus, Anenceph... OMIM:612284
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Genitopalatocardiac Syndrome
Gonadal dysgenesis, male, Hypospadias, Renal cyst OMIM:231060
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Lateral ventricle dilatation, Abnormal substantia nigra morphology ORPHA:2822
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
X-Linked Intellectual Disability Due To Gria3 Mutations
Cerebellar vermis hypoplasia, Cryptorchidism, Brachycephaly, Retrocerebellar cyst, Micropenis, Hy... ORPHA:364028
Hemangioblastoma
Cerebellar edema, Hydrocephalus, Neurogenic bladder, Cerebellar hemangioblastoma ORPHA:252054
Caffey Disease
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones, Subperiosteal bon... OMIM:114000
Pontocerebellar Hypoplasia, Type 7
Broad nasal tip, Hypoplasia of the pons, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Hypopl... OMIM:614969
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Maxillonasal Dysplasia
Depressed nasal bridge, Depressed nasal ridge, Short columella, Abnormal nostril morphology, Shor... ORPHA:1248
Combined Oxidative Phosphorylation Deficiency 25
Cerebellar atrophy, Depressed nasal bridge, Anteverted nares, Hypoplasia of the pons, Wide nasal ... OMIM:616430
Diabetes Insipidus, Neurohypophyseal
Wide nose, Decreased circulating osteocalcin level, Central diabetes insipidus, Short nose OMIM:125700
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Frontal bossing, Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Abnorm... ORPHA:2547
Lujan-Fryns Syndrome
Macroorchidism, Brachycephaly, Prominent nasal bridge ORPHA:776
Short Stature, Microcephaly, And Endocrine Dysfunction
Lymphopenia, Diabetes mellitus, Prominent nasal bridge, Unilateral renal agenesis, Broad nasal ti... OMIM:616541
Cerebellar Ataxia-Hypogonadism Syndrome
Hypogonadotropic hypogonadism, Supernumerary nipple, Decreased fertility, Brachycephaly, Hypogona... ORPHA:1173
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Peripheral retinal avascularization, Micrognathia, Tibial bowing, Hypoplastic iliac wing, Short t... ORPHA:96334
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Splenomegaly, Hydrocephalus, Chronic kidney disease, Nephronophthis... OMIM:615630
Polysyndactyly With Cardiac Malformation
Renal cyst, Stillbirth, Hepatic cysts, Small nail OMIM:263630
Desmosterolosis
Frontal bossing, Hypoplastic nasal bridge, Anteverted nares, Hydrocephalus, Ambiguous genitalia, ... OMIM:602398
H Syndrome
Histiocytosis, Hypertriglyceridemia, Diabetes mellitus, Abnormality of the kidney, Microcytic ane... ORPHA:168569
20Q11.2 Microduplication Syndrome
Bifid scrotum, Anteverted nares, Depressed nasal bridge, Trigonocephaly, Cryptorchidism, Wide nas... ORPHA:363659
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Focal Facial Dermal Dysplasia Type Iii
Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyebrow, Abnormality of the upper ur... ORPHA:1807
Miller-Dieker Syndrome
Nephropathy, Short nose, Anteverted nares ORPHA:531
Mitochondrial Myopathy And Sideroblastic Anemia
Short nose, Anemia, Delayed puberty ORPHA:2598
Craniometaphyseal Dysplasia, Autosomal Dominant
Metaphyseal widening, Cranial hyperostosis, Flared metaphysis, Abnormal pelvic girdle bone morpho... OMIM:123000
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Trichodiscoma, Renal cyst, Sebaceous hyperplasia, Renal cell carcinoma OMIM:135150
Desmosterolosis
Frontal bossing, Depressed nasal bridge, Renal agenesis, Abnormality of the nose, Renal hypoplasi... ORPHA:35107
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Anteverted nares, Depressed nasal bridge, Abnormal nasal morphology, Cryptorchidism, Wide nasal b... ORPHA:404440
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Meg... OMIM:222300
Congenital Short Bowel Syndrome
Sparse hair, Displacement of the urethral meatus ORPHA:2301
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Craniosynostosis, Chiari type I malformation, Platybasia, Midface r... ORPHA:261197
Joubert Syndrome 15
Exencephaly, Nephronophthisis, Ambiguous genitalia, Micropenis, Molar tooth sign on MRI OMIM:614464
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Anteverted nares, Wide nasal bridge, Agenesis of corpus callosum, T... OMIM:619980
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Macrocephaly/Autism Syndrome
Frontal bossing, Depressed nasal bridge, Penile freckling, Splenomegaly, Hydrocele testis, Bipari... OMIM:605309
Isolated Polycystic Liver Disease
Multiple renal cysts, Increased total bilirubin ORPHA:2924
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cerebellar vermis hypoplasia, Prominent nose, Brachycephaly, Hypoplasia of the brainstem, Aplasia... ORPHA:480880
Alopecia Antibody Deficiency
Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair ORPHA:1006
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Broad nasal tip, Hydrocephalus, Abnormal renal morphology, Wide nasal bridge, Plagiocephaly, Shor... OMIM:239300
Ectodermal Dysplasia/Skin Fragility Syndrome
Absent eyebrow, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dystrophic fing... OMIM:604536
Acrofacial Dysostosis 1, Nager Type
Prominent nasal bridge, Unilateral renal agenesis, Aqueductal stenosis, Hydrocephalus, Bicornuate... OMIM:154400
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Multicystic kidney dysplasia, Renal insufficiency, Anteverted nares, Pro... ORPHA:1454
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Anonychia, Nail dystrophy, Sparse body hair ORPHA:79402
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal reproductive system morphology, Brachycephaly, Increased CSF lactate ORPHA:70472
Beare-Stevenson Cutis Gyrata Syndrome
Bifid scrotum, Flat occiput, Hypospadias, Anteverted nares, Depressed nasal bridge, Choanal atres... OMIM:123790
Megaloblastic Anemia, Folate-Responsive
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... OMIM:601775
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... OMIM:171480
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Pseudodiastrophic Dysplasia
Frontal bossing, Anteverted nares, Brachycephaly, Midface retrusion OMIM:264180
Stevenson-Carey Syndrome
Recurrent urinary tract infections, Anteverted nares, Underdeveloped nasal alae, Brachycephaly, C... OMIM:611961
Cardiofaciocutaneous Syndrome 2
Sparse hair, Curly hair, Absent eyebrow, Fine hair OMIM:615278
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... OMIM:607634
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Short nose, Anteverted nares ORPHA:1832
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Abnormal circulating lipid ... ORPHA:481
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Elevated circulating creatine kinase concentration, Proximal renal tubular acidosis... ORPHA:2785
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Dandy-Walker ... OMIM:225790
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... OMIM:210250
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Abnormally o... ORPHA:1427
Marshall-Smith Syndrome
Anteverted nares, Choanal atresia, Craniosynostosis, Cerebellar hypoplasia, Short nose, Ventricul... ORPHA:561
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal synostosis, Short t... OMIM:609441
Burn-Mckeown Syndrome
Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia ORPHA:1200
Syndromic Diarrhea
Increased mean platelet volume, Splenomegaly, Wide nasal bridge, Renal hypoplasia, Hypoplasia of ... ORPHA:84064
Mckusick-Kaufman Syndrome
Hydroureter, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Hydronephrosis, Rectova... OMIM:236700
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... OMIM:613092
Chung-Jansen Syndrome
Cryptorchidism, Short nose, Anteverted nares OMIM:617991
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... ORPHA:85450
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadism OMIM:601794
Molybdenum Cofactor Deficiency, Complementation Group A
Frontal bossing, Hypouricemia, Xanthine nephrolithiasis, Increased urinary sulfite level, Absent ... OMIM:252150
Kniest Dysplasia
Hip contracture, Retinal detachment, Rhizomelia, Dumbbell-shaped long bone, Delayed epiphyseal os... OMIM:156550
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cryptorchidism, Dysplastic corpus callosum, Hypospadias, Anemia OMIM:620135
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Frontal bossing, Anteverted nares, Depressed nasal bridge, Un... OMIM:619005
Nabais Sa-De Vries Syndrome, Type 2
Frontal bossing, Multicystic kidney dysplasia, Depressed nasal bridge, Anteverted nares, Prominen... OMIM:618829
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Long nose, Renal hypoplasia, Renal cyst, Hematuria, Renal tubul... OMIM:610205
Sweeney-Cox Syndrome
Flat occiput, Choanal atresia, Broad nasal tip, Bilateral cryptorchidism, Asplenia, Underdevelope... OMIM:617746
Fanconi Anemia, Complementation Group B
Hypergonadotropic hypogonadism, Aplastic anemia, Renal agenesis, Thrombocytopenia, Hydrocephalus,... OMIM:300514
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Chromosome 2Q37 Deletion Syndrome
Wide nose, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Brachycephaly, Midface retr... OMIM:600430
Warburg Micro Syndrome 2
Small scrotum, Prominent nasal bridge, Cryptorchidism, Brachycephaly, Hypoplastic labia majora, M... OMIM:614225
D-Bifunctional Protein Deficiency
Cerebellar atrophy, Frontal bossing, Depressed nasal bridge, Splenomegaly, Scaphocephaly, Primary... OMIM:261515
Acrorenal-Mandibular Syndrome
Absent nipple, Renal agenesis, Scaphocephaly, Abnormality of the ureter, Uterus didelphys, Bicorn... OMIM:200980
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl... OMIM:617925
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... ORPHA:71275
7Q11.23 Microduplication Syndrome
Hypospadias, Unilateral renal agenesis, Broad nasal tip, Craniosynostosis, Cryptorchidism, Hydroc... ORPHA:96121
Aymé-Gripp Syndrome
Depressed nasal bridge, Proteinuria, Craniosynostosis, Cryptorchidism, Hydrocephalus, Brachycepha... ORPHA:1272
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Unilateral... OMIM:308750
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... OMIM:616959
Toluene Embryopathy
Cryptorchidism, Abnormal localization of kidney, Biparietal narrowing, Short nose, Hydronephrosis ORPHA:1920
Alagille Syndrome
Frontal bossing, Renal hypoplasia/aplasia, Long nose, Cryptorchidism, Abnormality of the ureter, ... ORPHA:52
Down Syndrome
Depressed nasal bridge, Renal hypoplasia/aplasia, Depressed nasal ridge, Decreased fertility, Bra... ORPHA:870
Genitourinary And/Or Brain Malformation Syndrome
Aplasia of the nasal bone, Streak ovary, Hypospadias, Acrania, Cryptorchidism, Dysplastic corpus ... OMIM:618820
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Plagiocephaly, Unilateral cryptorchidism, Brachycephaly OMIM:618862
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Cortical thickening of long bone diaphyses, Increased bone mineral density, Tibia... OMIM:166740
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Frontal bossing, Short nose, Brachycephaly, Midface retrusion OMIM:615539
Au-Kline Syndrome
Wide nasal ridge, Supernumerary nipple, Prominent nasal bridge, Underdeveloped nasal alae, Crypto... OMIM:616580
Floating-Harbor Syndrome
Narrow nasal bridge, Hypospadias, Renal agenesis, Broad nasal tip, Precocious puberty, Cryptorchi... ORPHA:2044
Bardet-Biedl Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Prominent nasal bridge, Cryptorchidism, Nephro... ORPHA:110
Kleefstra Syndrome 1
Hypospadias, Anteverted nares, Cryptorchidism, Abnormal renal morphology, Brachycephaly, Micropen... OMIM:610253
Hydrocephaly-Low Insertion Umbilicus Syndrome
Long nose, Wide nose, Abnormality of the urinary system, Communicating hydrocephalus ORPHA:2184
Microform Holoprosencephaly
Narrow nasal bridge, Hypoplasia of penis, Anteverted nares, Choanal atresia, Maternal diabetes, M... ORPHA:280200
Hereditary Spherocytosis
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... ORPHA:822
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Depressed nasal bridge, Anteverted nares, Prominent nose, Bulbous nose, Hydrocephalus, Wide nasal... ORPHA:2180
Bardet-Biedl Syndrome 17
Polyuria, Anosmia, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Hyposmia, Micropenis OMIM:615994
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Hypospadias, Enlarged labia minora, Craniosynostosis, Underdeveloped nasal alae... OMIM:268300
Emanuel Syndrome
Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Renal hypoplasia, Chiari malformation, ... ORPHA:96170
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Menorr... OMIM:153670
Micro Syndrome
Hypoplasia of penis, Cerebellar vermis hypoplasia, Anteverted nares, Cryptorchidism, Hypoplastic ... ORPHA:2510
Atelosteogenesis, Type Ii
Sandal gap, Micromelia, Micrognathia, Bifid humerus, Flat acetabular roof, Short greater sciatic ... OMIM:256050
Malan Syndrome
Short nose, Midface retrusion, Ventriculomegaly OMIM:614753
Congenital Disorder Of Glycosylation, Type Iq
Cerebellar vermis hypoplasia, Depressed nasal bridge, Brachycephaly, Microcytic anemia OMIM:612379
Diamond-Blackfan Anemia 8
Macrocytic anemia, Wide nasal bridge, Increased mean corpuscular volume, Neutropenia, Short nose OMIM:612563
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Renal insufficiency, Recurrent urinary tract infections, Hypersplenism, Splenomegal... ORPHA:731
Renal Cysts And Diabetes Syndrome
Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnormality of the kidney, ... OMIM:137920
Trisomy 13
Cryptorchidism, Calvarial skull defect, Abnormality of the ureter, Chiari malformation, Multiple ... ORPHA:3378
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:616649
Congenital Disorder Of Glycosylation, Type Iil
Cerebellar atrophy, Pancytopenia, Impaired T cell function, Unilateral renal agenesis, Thrombocyt... OMIM:614576
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Amme Complex
Hematuria, Depressed nasal bridge, Elliptocytosis, Midface retrusion OMIM:300194
Al-Gazali-Bakalinova Syndrome
Frontal bossing, Depressed nasal bridge, Wide nasal bridge, Molar tooth sign on MRI, Agenesis of ... OMIM:607131
Maternal Uniparental Disomy Of Chromosome 4
Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Aca... ORPHA:96180
Ring Chromosome 7 Syndrome
Hypospadias, Anteverted nares, Prominent nasal bridge, Abnormal cerebellum morphology, Wide nasal... ORPHA:1449
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Renal insufficiency, Anteverted nares, Depressed nasal bridge, Proteinuria, Ellip... ORPHA:86818
Thoracomelic Dysplasia
Abnormal fibula morphology, Genu valgum, Abnormal pelvic girdle bone morphology, Short ribs, Limb... ORPHA:1803
Dermoodontodysplasia
Sparse scalp hair, Fingernail dysplasia, Trichodysplasia, Toenail dysplasia, Sparse body hair ORPHA:1660
Grant Syndrome
Bowing of the long bones, Micrognathia, Abnormal pelvic girdle bone morphology, Abnormal cortical... ORPHA:2097
Acrofrontofacionasal Dysostosis
Bifid scrotum, Hypospadias, Broad nasal tip, Brachycephaly, Dimple on nasal tip, Midface retrusion ORPHA:1784
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Cerebellar vermis hypoplasia, Hypospadias, Anteverted nares, Depressed nasal bridge, Broad nasal ... ORPHA:495875
15Q11.2 Microdeletion Syndrome
Dilated fourth ventricle ORPHA:261183
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Frontal bossing, Brachycephaly, Plagiocephaly, Dolichocephaly, Midface retrusion, Low hanging col... OMIM:619721
16P13.11 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Cryptorchidism, Holoprosencephaly, Short nose, Agenesis... ORPHA:261236
Maxillonasal Dysplasia, Binder Type
Short nose, Short columella, Depressed nasal bridge OMIM:155050
Chromosome 14Q11-Q22 Deletion Syndrome
Lateral ventricular asymmetry, Unilateral cryptorchidism, Anterior pituitary hypoplasia, Depresse... OMIM:613457
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Convex nasal ridge, Hydrocephalus, Leukocytosis, Renal hypoplasia, Hypoplasia of the ovary, Azote... OMIM:619321
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Neoplasm of the nose, Nasal polyposis, Abnormality of the nose, Enlarg... ORPHA:2869
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Hydrocephalus, Cerebellar hypoplasia, Pelvic kidney, Agenesis of corpus callosum,... OMIM:613001
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Choanal atresia, Underdeveloped nasal alae, Cryptorchidism, Hydr... ORPHA:163979
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Hydrocephalus, Cranial hyperostosis... OMIM:259710
Congenital Disorder Of Glycosylation, Type Iim
Ureteropelvic junction obstruction, Wide nasal bridge, Lateral ventricle dilatation, Cerebellar h... OMIM:300896
Keppen-Lubinsky Syndrome
Narrow nasal bridge, Lateral ventricle dilatation, Narrow naris, Underdeveloped nasal alae OMIM:614098
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Turricephaly, Cloverleaf skull, Anteverted nares, Depressed nasal bridge, Choanal ... ORPHA:1555
Jacobsen Syndrome
Flat occiput, Hypospadias, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Hydrocephalu... OMIM:147791
Xq27.3Q28 Duplication Syndrome
Sparse body hair ORPHA:261483
Kury-Isidor Syndrome
Frontal bossing, Brachycephaly, Anteverted nares, Hydronephrosis OMIM:619762
B4Galt1-Cdg
Elevated circulating creatine kinase concentration, Splenomegaly, Hydrocephalus, Decreased LDL ch... ORPHA:79332
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Chromosome 1P36 Deletion Syndrome, Distal
Frontal bossing, Hypospadias, Abnormal external genitalia, Depressed nasal bridge, Ectopic kidney... OMIM:607872
Chromosome 6Q11-Q14 Deletion Syndrome
Bilateral cryptorchidism, Short nose, Prominent nasal bridge, Broad nasal tip OMIM:613544
Joubert Syndrome With Ocular Defect
Encephalocele, Cerebellar vermis hypoplasia, Anteverted nares, Prominent nasal bridge, Hydrocepha... ORPHA:220493
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Cerebellar vermis hypoplasia, Hypospadias, Narrow nasal ridge, Cryptorchidism, Horseshoe kidney, ... OMIM:620083
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... ORPHA:2751
Caroli Disease
Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis, Polycystic kidney dysplasia, Cholelith... ORPHA:53035
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Narrow nasal bridge, Flat occiput, Brachycephaly ORPHA:2511
Neurodegeneration And Seizures Due To Copper Transport Defect
Tricuspid regurgitation, Short tibia, Short femur, Talipes equinovarus OMIM:620306
Johanson-Blizzard Syndrome
Hypoplasia of penis, Diabetes mellitus, Hypospadias, Underdeveloped nasal alae, Abnormal vagina m... ORPHA:2315
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Partial agenesis of the corpus callosum, Renal cyst, Chiari type I ... OMIM:270400
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Genitopatellar Syndrome
Wide nose, Small scrotum, Multicystic kidney dysplasia, Prominent nasal bridge, Prominent nose, C... ORPHA:85201
Carey-Fineman-Ziter Syndrome
Anteverted nares, Glandular hypospadias, Aplasia/Hypoplasia of the cerebellum, Short nose, Hydron... ORPHA:1358
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse hair, Abnormal fingernail morphology, Sparse body hair ORPHA:1810
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Prominent nasal bridge, Unilateral renal agenesis, Cryptorchidism, Abnormal brainste... ORPHA:464311
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Anteverted nares, Hypospadias, Depressed nasal bridge, Prominent nose, Cryptorchidism, Wide nasal... OMIM:618316
Acrofrontofacionasal Dysostosis 2
Bifid scrotum, Wide nose, Hypospadias, Brachycephaly, Shawl scrotum OMIM:239710
Heyn-Sproul-Jackson Syndrome
Sparse hair OMIM:618724
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Colpocephaly OMIM:620156
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Frontal bossing, Depressed nasal bridge, Hydrocephalus, Chiari malformation, Aplasia/Hypoplasia o... ORPHA:60040
Intellectual Developmental Disorder, Autosomal Dominant 65
Turricephaly, Anteverted nares, Bulbous nose, Noncommunicating hydrocephalus, Wide nasal bridge, ... OMIM:619320
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly, Acute leukemia ORPHA:2770
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Frontal bossing, Depressed nasal bridge, Unilateral renal agenesis, Bilateral renal dysplasia, Sa... ORPHA:500150
Fanconi Anemia, Complementation Group D2
Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Renal agenesis, Ectop... OMIM:227646
Alexander Disease Type I
Cerebellar atrophy, Hydrocephalus, Abnormal thalamic MRI signal intensity ORPHA:363717
Emanuel Syndrome
Recurrent urinary tract infections, Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Ren... OMIM:609029
Hereditary Mucoepithelial Dysplasia
Alopecia, Abnormality of the bladder, Hematuria, Fine hair, Sparse hair ORPHA:1839
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia, Cholelithiasis OMIM:182900
Pontocerebellar Hypoplasia, Type 10
Underdeveloped nasal alae, Cryptorchidism, Bulbous nose, Wide nasal bridge, Short nose, Ventricul... OMIM:615803
Dyggve-Melchior-Clausen Disease
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow... OMIM:223800
Walker-Warburg Syndrome
Hypoplasia of penis, Cryptorchidism, Hydrocephalus, Abnormal circulating creatine kinase concentr... ORPHA:899
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele, Brachycephaly, Craniosynostosis OMIM:614416
Hb Bart'S Hydrops Fetalis
Splenomegaly, Hydrocephalus, Abnormal hemoglobin, Anemia ORPHA:163596
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Molybdenum Cofactor Deficiency, Complementation Group B
Frontal bossing, Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Xanthin... OMIM:252160
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Agenesis of c... ORPHA:77298
14Q11.2 Microdeletion Syndrome
Short nose, Depressed nasal bridge ORPHA:261120
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:2850
Diaphanospondylodysostosis
Myelomeningocele, Multiple renal cysts ORPHA:66637
Ohdo Syndrome
Small scrotum, Depressed nasal bridge, Anteverted nares, Proteinuria, Cryptorchidism, Wide nasal ... OMIM:249620
Joubert Syndrome 32
Molar tooth sign on MRI, Frontal bossing, Depressed nasal bridge, Abnormal cerebellum morphology OMIM:617757
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus, Urinary incontinence OMIM:236690
Intellectual Developmental Disorder, Autosomal Dominant 70
Broad nasal tip, Hypoplasia of the pons, Hydrocephalus, Wide nasal bridge, Chiari type I malforma... OMIM:620157
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Brachycephaly OMIM:615031
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Aqueductal stenosis, Conjugated hyperbilirubinemia, Hypoalbuminemi... OMIM:619534
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... OMIM:612690
Joubert Syndrome 27
Molar tooth sign on MRI, Frontal bossing, Dilatation of the renal pelvis OMIM:617120
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Elevated circulating creatin... ORPHA:90038
Jacobsen Syndrome
Frontal bossing, Ventriculomegaly, Multicystic kidney dysplasia, Anteverted nares, Spina bifida, ... ORPHA:2308
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... OMIM:602111
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Anterior pituitary hypoplasia, Narrow nasal tip, Prominent nasal bridge, Unilateral ... ORPHA:464306
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Humeroradial Synostosis
Brachycephaly, Renal insufficiency, Wide nasal bridge OMIM:236400
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Frontal bossing, Cerebellar vermis hypoplasia, Hypospadias, Anteverted nares, Choanal atresia, Hy... OMIM:616975
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:181
Craniofrontonasal Syndrome
Frontal bossing, Hypospadias, Bifid nasal tip, Cryptorchidism, Wide nasal bridge, Brachycephaly, ... OMIM:304110
Occipital Horn Syndrome
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic... ORPHA:198
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Baller-Gerold Syndrome
Narrow nasal bridge, Frontal bossing, Prominent nasal bridge, Abnormality of the ureter, Brachyce... ORPHA:1225
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Cerebellar atrophy, Hypertriglyceridemia, Depressed nasal bridge, Hypercalcem... ORPHA:369837
Cadds
Cerebellar atrophy, Short nose, Ventriculomegaly ORPHA:369942
Muenke Syndrome
Plagiocephaly, Coronal craniosynostosis, Brachycephaly, Midface retrusion OMIM:602849
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Diabetes mellitus, Abnormality of the kidney, Decreased serum iron, Broad nasal tip, Recurrent up... ORPHA:391372
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of neutrophils, Hydrocephalus, Abnormal brainstem morphology, Hypochromic anemia, Apl... ORPHA:2720
Stromme Syndrome
Accessory spleen, Cerebellar vermis hypoplasia, Prominent nasal bridge, Hydrocephalus, Bilateral ... OMIM:243605
Radial Aplasia, X-Linked
Hydrocephalus, Penile hypospadias OMIM:312190
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m... ORPHA:1422
Musculocontractural Ehlers-Danlos Syndrome
Craniosynostosis, Cryptorchidism, Functional abnormality of the bladder, Nephrolithiasis, Horsesh... ORPHA:2953
1P36 Deletion Syndrome
Frontal bossing, Hypoplasia of penis, Hypospadias, Depressed nasal bridge, Abnormality of the kid... ORPHA:1606
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Cystic Echinococcosis
Eosinophilia, Abnormality of the testis size, Renal cyst, Ovarian cyst, Membranous nephropathy, H... ORPHA:400
Short Stature With Microcephaly And Distinctive Facies
Frontal bossing, Depressed nasal bridge, Anteverted nares, Anisopoikilocytosis, Anemia OMIM:615789
Intellectual Developmental Disorder, Autosomal Dominant 1
Frontal bossing, Cerebellar vermis hypoplasia, Prominent nose, Bulbous nose, Depressed nasal ridg... OMIM:156200
Heterotaxy, Visceral, 1, X-Linked
Renal agenesis, Aqueductal stenosis, Asplenia, Hydrocephalus, Myelomeningocele, Horseshoe kidney,... OMIM:306955
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... OMIM:600002
Femoral-Facial Syndrome
Renal agenesis, Maternal diabetes, Underdeveloped nasal alae, Abnormal renal collecting system mo... OMIM:134780
Cornelia De Lange Syndrome 1
Hypospadias, Choanal atresia, Depressed nasal bridge, Anteverted nares, Ectopic kidney, Cryptorch... OMIM:122470
Gand Syndrome
Sparse hair OMIM:615074
Caroli Syndrome
Abnormality of the kidney, Conjugated hyperbilirubinemia, Hypersplenism, Leukocytosis, Leukopenia... ORPHA:480520
Distal Deletion 3P
Cryptorchidism, Anteverted nares, Brachycephaly, Ventriculomegaly ORPHA:1620
Developmental And Epileptic Encephalopathy 49
Frontal bossing, Cerebellar vermis hypoplasia, Prominent nose, Dysplastic corpus callosum, Hydroc... OMIM:617281
9Q33.3Q34.11 Microdeletion Syndrome
Wide nose, Small scrotum, Epistaxis, Abnormality of the kidney, Cryptorchidism, Bulbous nose, Bra... ORPHA:495818
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, Decreased... OMIM:614069
Thanatophoric Dysplasia Type 1
Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Abnormality of the kidney, Hydrocephal... ORPHA:1860
Metaphyseal Chondrodysplasia, Jansen Type
Hypoparathyroidism, Hyperphosphaturia, Hypercalcemia, Choanal atresia, Hypercalciuria, Brachyceph... OMIM:156400
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose, Aminoaciduria ORPHA:833
Oculocerebrocutaneous Syndrome
Cryptorchidism, Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology, Dand... ORPHA:1647
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Increased circul... OMIM:304790
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy, Elevated circulating creatine kinase concentration OMIM:313200
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Choroid plexus cyst, S... OMIM:267010
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Anteverted nares, Elevated circulating creatine kinase concentrat... OMIM:619743
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stillbirth, Neonatal d... OMIM:614922
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cerebellar atrophy, Cryptorchidism, 3-Methylglutaconic aciduria, Delayed puberty, Short nose ORPHA:496790
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Renal malrotation, Anteverted nares, Decreased response to growth hormone stimulation test, Depre... OMIM:615866
Myopathy, Centronuclear, X-Linked
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Dolichocephaly OMIM:310400
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:612653
Zellweger Syndrome
Multicystic kidney dysplasia, Flat occiput, Depressed nasal bridge, Hypospadias, Cryptorchidism, ... ORPHA:912
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Ventriculomegaly, Frontal bossing, Depressed nasal bridge, Trigonocephaly, ... OMIM:266920
Meckel Syndrome
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancr... ORPHA:564
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Midface retrusion, Hypospadias, Anteverted nares, Depressed nasal bridge, Renal agenesis, Cryptor... OMIM:301040
Joubert Syndrome 22
Molar tooth sign on MRI, Agenesis of cerebellar vermis, Renal hypoplasia OMIM:615665
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Frontal bossing, Hydrocephalus ORPHA:2181
Tetrasomy 15Q26
Hydrocephalus, Hydronephrosis, Dandy-Walker malformation, Horseshoe kidney OMIM:614846
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Brachycephaly, Depressed nasal bridge, Elevated circulating creatine kinase concentration OMIM:620240
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Frontal bossing, Hydrocephalus, Hypocalcemia, Anemia ORPHA:53
Nicolaides-Baraitser Syndrome
Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Long eyelashes, Sparse hair ORPHA:3051
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulating porphyrin concentration, Sp... ORPHA:79277
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Elevated circulating creatine kinase concentration, Cryptorchidism, Hydr... OMIM:236670
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Flat occiput, Depressed nasal bridge, Anteverted nares, Brachycephaly, Vesicoureteral reflux OMIM:618797
Short Fifth Metacarpals-Insulin Resistance Syndrome
Nasal congestion, Splenomegaly, Spherocytosis, Hyperinsulinemia ORPHA:66518
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Anteverted nares, Cryptorchidism, Hydrocephalus, Skull asymmetry, Dandy-Walker malformation OMIM:612938
Cerebrooculonasal Syndrome
Abnormal nostril morphology, Hypoplasia of penis, Brachycephaly ORPHA:66625
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Czeizel-Losonci Syndrome
Spina bifida, Hydrocephalus, Myelomeningocele, Ureteral agenesis, Congenital megaureter, Abnormal... ORPHA:2437
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
1Q21.1 Microdeletion Syndrome
Frontal bossing, Cryptorchidism, Hydrocephalus, Bulbous nose, Wide nasal bridge, Vesicoureteral r... ORPHA:250989
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Nail dystrophy, Small ... OMIM:234050
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Frontal bossing, Lymphopenia, Cloverleaf skull, Depressed nasal bridge, Anteverted nares, Cranios... ORPHA:508533
Omodysplasia 1
Short humerus, Increased fibular diameter, Rhizomelia, Micrognathia, Limited knee flexion, Crypto... OMIM:258315
Baker-Gordon Syndrome
Prominent nasal tip, Short nose OMIM:618218
Difference Of Sex Development-Intellectual Disability Syndrome
Hypoplasia of penis, Small scrotum, Hypogonadism, Short nose, Spina bifida occulta ORPHA:2983
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... ORPHA:2634
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Depressed nasal bridge, Hypercalciuria, Nephrocalcinosis, Elliptocytosis, Midface retrusion, Rena... OMIM:300990
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... OMIM:225060
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, S... OMIM:235200
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Chiari malformation, Agenesis... OMIM:207950
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Absent ossification of calvaria, Congestive heart failure,... OMIM:166210
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Frontal bossing, Hypoplasia of penis, Wide nose, Depressed nasal bridge, Urethrovaginal fistula, ... ORPHA:93271
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Hydrocephalus, Hypospadias, Wide nasal bridge OMIM:601499
Eem Syndrome
Sparse scalp hair, Absent eyebrow, Sparse body hair ORPHA:1897
Bardet-Biedl Syndrome 6
Diabetes mellitus, Hypospadias, External genital hypoplasia, Renal cyst, Vaginal atresia OMIM:605231
Absent Eyebrows And Eyelashes With Mental Retardation
Encephalocele, Short nose, Convex nasal ridge OMIM:200130
Fg Syndrome Type 1
Hypospadias, Choanal atresia, Craniosynostosis, Prominent nose, Cryptorchidism, Hydrocephalus, Ab... ORPHA:93932
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Frontal bossing, Anteverted nares, Anterior pituitar... OMIM:613038
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Sparse eyebrow, Micropenis, Reduced hair sulfur content, Sparse ... OMIM:300953
Pontocerebellar Hypoplasia, Type 2E
Cerebellar atrophy, Wide nose, Ventriculomegaly, Short nose OMIM:615851
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Anosmia, Hypogonadism, Short nose, Short nasal septum OMIM:302950
Monosomy 9P
Ureteropelvic junction obstruction, Anteverted nares, Hypospadias, Depressed nasal bridge, Choana... ORPHA:261112
Pseudotrisomy 13 Syndrome
Encephalocele, Renal agenesis, Adrenal hypoplasia, Cryptorchidism, Hydrocephalus, Renal hypoplasi... OMIM:264480
Adult Krabbe Disease
Abnormal medulla oblongata morphology, Urinary incontinence, Abnormal midbrain morphology, Abnorm... ORPHA:206448
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Renal artery stenosis, Spina bifida OMIM:162200
Harrod Syndrome
Long nose, Cryptorchidism, Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Primary Ciliary Dyskinesia
Male infertility, Nasal polyposis, Female infertility, Asplenia, Hydrocephalus, Nasal congestion,... ORPHA:244
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Frontal bossing, Hydroureter, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, C... OMIM:610759
Triploidy
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly, ... ORPHA:3376
Bazex-Dupre-Christol Syndrome
Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa OMIM:301845
Multiple Sulfatase Deficiency
Cerebellar atrophy, Anteverted nares, Splenomegaly, Hydrocephalus, Mucopolysacchariduria, Increas... OMIM:272200
Filippi Syndrome
Sparse hair, Frontal hirsutism, Hypertrichosis OMIM:272440
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Sparse body hair ORPHA:59303
3-Methylglutaconic Aciduria Type 7
Cerebellar atrophy, Renal insufficiency, Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduri... ORPHA:445038
Kaufman Oculocerebrofacial Syndrome
Ventriculomegaly, Anteverted nares, Depressed nasal bridge, Brachycephaly, Hypoplastic labia majo... OMIM:244450
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I... OMIM:223900
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Vacterl/Vater Association
Bifid scrotum, Occipital encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hyposp... ORPHA:887
Mosaic Variegated Aneuploidy Syndrome
Frontal bossing, Wide nose, Multicystic kidney dysplasia, Vaginal neoplasm, Aplasia/Hypoplasia of... ORPHA:1052
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... OMIM:615558
Ruvalcaba Syndrome
Cryptorchidism, Abnormal localization of kidney, Hematuria, Delayed puberty, Short nose, Convex n... ORPHA:3121
Frontonasal Dysplasia 3
Brachycephaly, Wide nasal bridge, Underdeveloped nasal alae OMIM:613456
Tetrasomy 5P
Anteverted nares, Hydrocephalus, Wide nasal bridge, Cerebellar hypoplasia, Short nose, Midface re... ORPHA:3309
Microphthalmia With Limb Anomalies
Toe syndactyly, Sandal gap, Unilateral cryptorchidism, Capitate-hamate fusion, 2-3 toe cutaneous ... OMIM:206920
Hydrolethalus
Cryptorchidism, Hydrocephalus, Anencephaly, Abnormality of the sense of smell, Abnormal fallopian... ORPHA:2189
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... ORPHA:79239
Moebius Syndrome
Syndactyly, Brachydactyly, Pes planus, Hypogonadotropic hypogonadism, Micrognathia, Split hand, H... OMIM:157900
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Frontal bossing, Hypospadias, Anteverted nare... ORPHA:709
Monosomy 18P
Holoprosencephaly, Brachycephaly, Wide nasal bridge ORPHA:1598
Cutis Laxa, Autosomal Recessive, Type Iib
Frontal bossing, Narrow nasal ridge, Bulbous nose, Hydrocephalus, Agenesis of corpus callosum, Mi... OMIM:612940
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Bowing of the legs,... OMIM:300554
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... OMIM:227270
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Cerebellar vermis hypoplasia, Urinary incontinence, Asplenia, Chiari type I malfor... ORPHA:261537
Teebi Hypertelorism Syndrome 1
Frontal bossing, Depressed nasal bridge, Anteverted nares, Sagittal craniosynostosis, Wide nasal ... OMIM:145420
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Frontal bossing, Anteverted nares, Bulbous nose, Wide nasal bridge, Short nose OMIM:613604
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Depr... OMIM:614527
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... ORPHA:94059
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Abnormal mast cell morphology ORPHA:398189
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration, Autoimmune thrombocytopenia OMIM:245200
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hypospadias, Depressed nasal bridge, Craniosynostosis, Broad nasal tip, Cryptorchidism, Bulbous n... OMIM:309590
Ulbright-Hodes Syndrome
Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Maternal diabetes,... ORPHA:3404
Adnp Syndrome
Recurrent urinary tract infections, Depressed nasal bridge, Urinary incontinence, Cryptorchidism,... ORPHA:404448
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow OMIM:616819
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Short nose OMIM:300143
Hypomandibular Faciocranial Dysostosis
Anteverted nares, Craniosynostosis, Brachycephaly, Choanal stenosis, Trigonocephaly, Short nose, ... ORPHA:1790
Lesch-Nyhan Syndrome
Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Hyperuricemia, Testicul... OMIM:300322
Non-Distal Duplication 13Q
Trigonocephaly, Cryptorchidism, Short nose ORPHA:1702
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Anteverted nares, Re... OMIM:229850
Craniofacial-Deafness-Hand Syndrome
Depressed nasal ridge, Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Short nose ORPHA:1529
Teebi Hypertelorism Syndrome 2
Depressed nasal bridge, Hypospadias, Short nose, Broad nasal tip OMIM:619736
Metatropic Dysplasia
Hydrocephalus, Depressed nasal bridge ORPHA:2635
Fanconi Anemia, Complementation Group A
Male infertility, Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Ren... OMIM:227650
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Hyperphosphatasia-Intellectual Disability Syndrome
Prominent nasal bridge, Supernumerary nipple, Bulbous nose, Wide nasal bridge, Brachycephaly, Pla... ORPHA:247262
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Autosomal Recessive Omodysplasia
Frontal bossing, Depressed nasal bridge, Anteverted nares, Craniosynostosis, Cryptorchidism, Shor... ORPHA:93329
Intellectual Developmental Disorder, Autosomal Dominant 53
Cryptorchidism, Brachycephaly, Posterior plagiocephaly, Micropenis, Hydronephrosis OMIM:617798
Proteus-Like Syndrome
Communicating hydrocephalus, Thymus hyperplasia, Anteverted nares, Splenomegaly, Hydrocephalus, P... ORPHA:2969
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Fused labia majora, Bifid scrotum, Decreased circulating cortisol level, Small scrotum, Brachycep... OMIM:201750
Donnai-Barrow Syndrome
Depressed nasal bridge, Proteinuria, Broad nasal tip, Non-acidotic proximal tubulopathy, Partial ... OMIM:222448
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Bifid scrotum, Hypoplasia of penis, Hypogonadotropic hypogonadism, Anosmia, Abnormal nostril morp... ORPHA:1295
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
Decreased LDL cholesterol concentration, Acanthocytosis OMIM:607236
Craniosynostosis With Fibular Aplasia
Cryptorchidism, Craniosynostosis, Fibular aplasia OMIM:218550
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Hypospadias, Anteverted nares, Supernumerary nipple, Narrow nasal tip, Cryptorchidism, Wide nasal... ORPHA:477993
15Q Overgrowth Syndrome
Turricephaly, Ureterovesical stenosis, Craniosynostosis, Hydrocephalus, Abnormal renal morphology... ORPHA:314585
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia OMIM:618165
Acromicric Dysplasia
Bulbous nose, Anteverted nares, Short nose ORPHA:969
Cree Mental Retardation Syndrome
Bifid scrotum, Cryptorchidism, Hypospadias, Brachycephaly OMIM:606851
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Pes planus, Abnormal pelvic girdle bone morp... OMIM:610967
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Anteverted nares, Unilateral renal agenesis, Olivopontocerebellar hypoplasia, Hydrocephalus, Plag... ORPHA:457284
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... OMIM:119800
Trisomy 8P
Anteverted nares, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Recurrent upper respirat... ORPHA:264450
Progeroid Syndrome, Petty Type
Brittle hair, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in irregular rows... ORPHA:2963
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Pulmonary insufficiency, Early ossification of capital femoral epiphyses,... OMIM:208500
Trichohepatoenteric Syndrome 2
Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa OMIM:614602
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... OMIM:185000
Schinzel-Giedion Syndrome
Frontal bossing, Streak ovary, Hypospadias, Myeloid leukemia, Nephroblastoma, Broad nasal tip, Sh... ORPHA:798
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI, Depressed nasal bridge, Ventriculomegaly OMIM:617563
Cdags Syndrome
Frontal bossing, Hypospadias, Sagittal craniosynostosis, Rectourethral fistula, Parietal foramina... OMIM:603116
Bifid Nose With Or Without Anorectal And Renal Anomalies
Renal agenesis, Unilateral renal agenesis, Precocious puberty, Bulbous nose, Brachycephaly, Recto... OMIM:608980
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Trichothiodystrophy 8, Nonphotosensitive
Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa OMIM:619691
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Harel-Yoon Syndrome
Cerebellar atrophy, Frontal bossing, Short nose OMIM:617183
Hamamy Syndrome
Hypoparathyroidism, Anteverted nares, Craniosynostosis, Microcytic anemia, Cryptorchidism, Wide n... OMIM:611174
Aarskog-Scott Syndrome
Anteverted nares, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Crypt... OMIM:305400
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Arachnoiditis
Hydrocephalus, Urinary bladder sphincter dysfunction ORPHA:137817
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Frontal bossing, Hydrocephalus, Coronal craniosynostosis, Midface re... OMIM:112240
Prolidase Deficiency
Depressed nasal bridge, Hyperimidodipeptiduria, Thrombocytopenia, Splenomegaly, Concave nasal rid... OMIM:170100
Noonan Syndrome With Multiple Lentigines
Hypospadias, Cryptorchidism, Wide nasal bridge, Decreased fertility, Abnormal localization of kid... ORPHA:500
Blepharocheilodontic Syndrome 1
Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis OMIM:119580
Fanconi Anemia
Leukopenia, Abnormality of the uterus, Abnormality of the hypothalamus-pituitary axis, Hypospadia... ORPHA:84
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair OMIM:613576
Coffin-Siris Syndrome
Hypospadias, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Cryptorchidism, Recurrent... ORPHA:1465
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Cerebellar vermis hypoplasia, Urinary incontinence, Asplenia, Chiari type I malfor... ORPHA:261552
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Cerebellar atrophy, Cerebellar vermis hypoplasia, Depressed nasal bridge, Long nose, Hydrocephalu... OMIM:618590
Linear Skin Defects With Multiple Congenital Anomalies 2
Short nose, Agenesis of corpus callosum OMIM:300887
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Small scrotum, Hypospadias, Anteverted nares, Depressed nasal br... OMIM:269150
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Renal dysplasia, Ureteral duplication, Frontal bossing, Cerebellar atrophy, Depressed nasal bridg... OMIM:614080
Alg9-Cdg
Cerebellar atrophy, Hypoplasia of the bladder, Frontal bossing, Depressed nasal bridge, Hepatic c... ORPHA:79328
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Bifid scrotum, Abnormal penis morphology, Encephalocele, Flat occiput, Hypospadias, Epispadias, D... ORPHA:2211
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Wide nasal bridge, Renal cyst, Midface retrusion, Convex nasal ridge OMIM:601539
Skin Creases, Congenital Symmetric Circumferential, 1
Cerebellar vermis atrophy, Depressed nasal bridge, Brachycephaly, Dandy-Walker malformation OMIM:156610
Cardiocranial Syndrome, Pfeiffer Type
Sparse hair, Abnormal hair whorl, Micropenis, Hypospadias ORPHA:2872
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Short nose ORPHA:2429
Neurofaciodigitorenal Syndrome
Prominent nasal bridge, Unilateral renal agenesis, Cryptorchidism, Brachycephaly, Plagiocephaly ORPHA:2673
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Fetal Valproate Spectrum Disorder
Short nose, Depressed nasal ridge ORPHA:1906
Al Kaissi Syndrome
Brachycephaly, Depressed nasal bridge, Wide nasal bridge, Broad nasal tip OMIM:617694
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Sparse hair OMIM:273390
Developmental And Epileptic Encephalopathy 31B
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:620352
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Cerebellar atrophy, Recurrent urinary tract infections, Pancytopenia... ORPHA:309282
Fg Syndrome 3
Sparse hair, Frontal upsweep of hair, Fine hair OMIM:300406
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia... OMIM:277400
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Anteverted nares, Hypospadias, Depressed nasal bridge, Cryptorchidism, Cerebellar hypoplasia, Sho... OMIM:217980
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Bulbous nose, Chiari type I malformation, Cerebellar hypoplasia, Dandy-Walker malf... OMIM:618476
Craniosynostosis 2
Frontal bossing, Turricephaly, Craniosynostosis, Unicoronal synostosis, Brachycephaly, Trigonocep... OMIM:604757
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Lateral ventricle dilatation OMIM:618367
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Cerebellar atrophy, Hydroureter, Anteverted nares, Elevated circulating alpha-fetoprotein concent... ORPHA:280633
Degcags Syndrome
Prominent nose, Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Agenesis of corpu... OMIM:619488
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Frontal bossing, Bulbous nose, Wide nasal bridge, Dolichocephaly, Inferior cerebellar vermis hypo... OMIM:618571
Cardiofaciocutaneous Syndrome
Frontal bossing, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Biparie... ORPHA:1340
Adenylosuccinase Deficiency
Cerebellar atrophy, Short nose, Anteverted nares, Brachycephaly OMIM:103050
Donnai-Barrow Syndrome
Depressed nasal bridge, Proteinuria, Bicornuate uterus, Abnormality of the uterus, Short nose ORPHA:2143
Exstrophy-Epispadias Complex
Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera... ORPHA:322
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Anteverted nares, Midface retrusion, Short nose OMIM:614744
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Long nose, Bulbous nose, Partial agenesis of the corpus callosum, Colpocephaly, Agenesis of corpu... OMIM:620113
Muscle-Eye-Brain Disease
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Hydrocephalus, Hepatosplenomeg... ORPHA:505248
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Sparse eyelashes, Sparse eyebrow, Renal cyst, Horseshoe kidney, Small nail, Sparse hair, High ant... OMIM:250410
Lateral Meningocele Syndrome
Neurogenic bladder, Cryptorchidism, Hydrocephalus, Meningocele, Chiari type I malformation, Dolic... OMIM:130720
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Otopalatodigital Syndrome Type 2
Encephalocele, Depressed nasal bridge, Hypospadias, Hydrocephalus, Myelomeningocele, Hydronephros... ORPHA:90652
Optic Pathway Glioma
Precocious puberty, Hydrocephalus ORPHA:2086
Gapo Syndrome
Frontal bossing, Depressed nasal bridge, Anteverted nares, Plagiocephaly, Short nose, Ventriculom... OMIM:230740
2Q37 Microdeletion Syndrome
Frontal bossing, Multicystic kidney dysplasia, Depressed nasal bridge, Anteverted nares, Underdev... ORPHA:1001
Cutis Laxa, Autosomal Recessive, Type Iia
Frontal bossing, Anteverted nares, Short nose, Midface retrusion, Dandy-Walker malformation OMIM:219200
Tenorio Syndrome
Wide nose, Anteverted nares, Hydrocephalus, Enuresis, Ventriculomegaly OMIM:616260
Mody
Elevated hemoglobin A1c, Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin... ORPHA:552
Osteopetrosis, Autosomal Recessive 1
Frontal bossing, Pancytopenia, Craniosynostosis, Splenomegaly, Hydrocephalus, Anemia, Hypocalcemi... OMIM:259700
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Renal cyst OMIM:611773
Duplication Of The Pituitary Gland
Encephalocele, Abnormal midbrain morphology, Abnormal pituitary gland morphology, Abnormal hypoth... ORPHA:314621
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Renal cyst, Hyperbilirub... ORPHA:79303
Diaphanospondylodysostosis
Nephrogenic rest, Depressed nasal bridge, Nephroblastomatosis, Depressed nasal ridge, Horseshoe k... OMIM:608022
Osteopetrosis, Autosomal Dominant 2
Fractures of the long bones, Abnormal pelvic girdle bone morphology, Osteopetrosis, Generalized o... OMIM:166600
Vulto-Van Silfhout-De Vries Syndrome
Frontal bossing, Brachycephaly OMIM:615828
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sparse hair, Coarse hair, Brittle hair ORPHA:1883
Kaposiform Lymphangiomatosis
Metrorrhagia, Epistaxis, Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Anemia, Abnormal spl... ORPHA:464329
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Renal hypoplasia/aplasia, Cr... ORPHA:2166
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Wide nasal bridge, Spinal dysraphism, Hol... ORPHA:1908
Congenital Myopathy 13
Cryptorchidism, Brachycephaly, Ventriculomegaly, Midface retrusion OMIM:255995
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Slender nose, Brachycephaly, Wide nasal bridge, Short columella, Enlarged naris ORPHA:562528
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Abnormality of the spleen, Hydrocephalus, Thrombo... ORPHA:2072
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
Abetalipoproteinemia
Abetalipoproteinemia, Acanthocytosis OMIM:200100
9q subtelomeric deletion syndrome
Short nose, Anteverted nares, Midface retrusion DECIPHER:52
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Frontal bossing, Depressed nasal bridge, Urinary incontinence, Hydrocephalus, Irregular menstruat... OMIM:616482
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Hydrocephalus, Splenomegaly, N... ORPHA:398124
Cronkhite-Canada Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Dystrophic toenail, Patchy alopec... ORPHA:2930
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Flat occiput, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoacid... ORPHA:534
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Conjugated hyperbilirubinemia, Splenomegaly, Hyperkalemia, Stomatocytosis, Hypo... OMIM:608885
Aica-Ribosiduria
Fused labia minora, Brachycephaly, Clitoral hypertrophy ORPHA:250977
3P25.3 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Prominent nose, Brachycephaly, Abnormal thalamus morpho... ORPHA:435638
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Frontal bossing, Anteverted nares, Supernumerary nipple, Cryptorchidism, Wide nasal bridge, Brach... OMIM:616728
Mcleod Syndrome
Splenomegaly, Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Acan... OMIM:300842
Holoprosencephaly
Hypoplasia of penis, Flat occiput, Abnormality of the spleen, Depressed nasal ridge, Panhypopitui... ORPHA:2162
Icf Syndrome
Communicating hydrocephalus, Depressed nasal bridge, Abnormality of neutrophils, Decreased circul... ORPHA:2268
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Abnormal nasal bone morphology, Neoplasm... ORPHA:54595
Cole-Carpenter Syndrome 2
Frontal bossing, Turricephaly, Hydrocephalus, Lambdoidal craniosynostosis, Coronal craniosynostos... OMIM:616294
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Hypoplastic... OMIM:614941
Hallermann-Streiff Syndrome
Frontal bossing, Prominent nasal bridge, Spina bifida, Underdeveloped nasal alae, Cryptorchidism,... OMIM:234100
Osteopathia Striata-Cranial Sclerosis Syndrome
Frontal bossing, Flat occiput, Brachycephaly, Wide nasal bridge, Facial hyperostosis, Spina bifid... ORPHA:2780
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Alopecia, Highly arched eyebrow, Synophrys, Abnormality of the ureter, Dystrophic toenail, Nail d... ORPHA:3253
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Renal malrotation, Cerebellar vermis hypoplasia, Anteverted nares, Eosinoph... OMIM:274000
Congenital Disorder Of Glycosylation, Type Iu
Cerebellar hypoplasia, Short nose, Elevated circulating creatine kinase concentration OMIM:615042
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Acanthocytosis OMIM:200150
Achondrogenesis
Frontal bossing, Short nose, Anteverted nares ORPHA:932
Doors Syndrome
Adrenal hyperplasia, Brachycephaly, Nephrocalcinosis, Spina bifida occulta, Dandy-Walker malforma... ORPHA:79500
Griscelli Syndrome
Encephalocele, Abnormality of neutrophils, Splenomegaly, Hydrocephalus, Decreased circulating ant... ORPHA:381
Anauxetic Dysplasia 2
Sparse hair, Nail dysplasia, Small nail OMIM:617396
Cornelia De Lange Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Choanal atresia, Anteverted nares... ORPHA:199
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia, Hypoplasia of the brainstem OMIM:615249
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Reticulocytosis, Acanthocytosis, Decreased LDL cholester... ORPHA:14
Orofaciodigital Syndrome Type 6
Frontal bossing, Cerebellar vermis hypoplasia, Renal agenesis, Prominent nasal bridge, Renal hypo... ORPHA:2754
Spondyloepiphyseal Dysplasia, Nishimura Type
Short nose, Midface retrusion OMIM:618618
Rapp-Hodgkin Syndrome
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Hypospadias, Sparse eyebrow, Fine hair... OMIM:129400
Jaberi-Elahi Syndrome
Depressed nasal bridge, Substantia nigra hypointensity on susceptibility-weighted imaging, Short ... OMIM:617988
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Depressed nasal bridge, Hydrocephalus, Wide nasal bridge, Ureteral triplication, Hydronephrosis OMIM:104350
Immunodeficiency 96
Multicystic kidney dysplasia, Increased proportion of gamma-delta T cells, Decreased circulating ... OMIM:619774
Gaucher Disease, Perinatal Lethal
Depressed nasal bridge, Anteverted nares, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Ane... OMIM:608013
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Short humerus, Rhizomelia, Optic nerve hypoplasia, Micrognathia, Epiphyseal stippling... OMIM:222765
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Bulbous nose, Micropenis, Prominent nasal bridge, Short nose OMIM:613870
Ichthyosis, Congenital, Autosomal Recessive 1
Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia OMIM:242300
19P13.13 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Brachycephaly, Chiari type I malformation, Dolichocepha... ORPHA:357001
Monosomy 9Q22.3
Ventriculomegaly, Hydrocephalus, Chiari malformation, Trigonocephaly, Nephroblastoma, Short nose ORPHA:77301
White-Sutton Syndrome
Duplicated collecting system, Cerebellar atrophy, Depressed nasal bridge, Broad nasal tip, Hypopl... ORPHA:468678
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Depressed nasal bridge, Hypospadias, Cryptorchidism, Urolithiasis, Hyperuric... OMIM:300661
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormal femur morphology, Ab... ORPHA:3429
Baller-Gerold Syndrome
Turricephaly, Prominent nasal bridge, Abnormality of the kidney, Underdeveloped nasal alae, Sagit... OMIM:218600
Amoebiasis Due To Free-Living Amoebae
Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnormal cerebrospinal fluid... ORPHA:68
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Frontal bossing, Hydrocephalus, Ventriculomegaly OMIM:603387
Achondroplasia
Short nasal bridge, Frontal bossing, Depressed nasal bridge, Anteverted nares, Hydrocephalus, Par... ORPHA:15
Meckel Syndrome, Type 5
Occipital encephalocele, Anencephaly, Renal cyst OMIM:611561
X-Linked Intellectual Disability, Snyder Type
Anteverted nares, Hypospadias, Prominent nasal bridge, Ectopic kidney, Cryptorchidism, Bulbous no... ORPHA:3063
Trisomy 10P
Absent gallbladder, Frontal bossing, Anteverted nares, Depressed nasal bridge, Abnormality of the... ORPHA:171929
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Broad nasal tip, Wide nasal bridge, Dolichocephaly,... ORPHA:1297
Hurler Syndrome
Frontal bossing, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Heparan sulfate excre... OMIM:607014
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Wide nose, Diabetes mellitus, Anteverted nares, Hypoplasia of the brainstem, Cerebellar hypoplasi... ORPHA:391408
Marshall Syndrome
Frontal bossing, Depressed nasal bridge, Anteverted nares, Brachycephaly, Wide nasal bridge, Shor... ORPHA:560
Codas Syndrome
Hydroureter, Depressed nasal bridge, Anteverted nares, Midline defect of the nose, Short nose ORPHA:1458
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar dysplasia, Encephalocele, Hydrocephalus, Partial absence of cerebellar vermis, Hypopla... OMIM:613150
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Hydrocephalus, Hypoplasia of the uterus, Colpocephaly, Chordee, Micropeni... OMIM:309801
Spinocerebellar Ataxia-Dysmorphism Syndrome
Anteverted nares, Dolichocephaly, Aplasia/Hypoplasia of the cerebellum, Short nose, Spina bifida ... ORPHA:1185
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Hydrocephalus, Wide nasal bridge, Renal hypoplasia, Depressed nasal ti... OMIM:614083
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebellar atrophy, Ventriculomegaly, Splenomegaly, Brachycephaly, Plagiocephaly, Thrombocytopenia OMIM:301072
Transketolase Deficiency
Increased level of ribose in urine, Renal cyst, Secondary amenorrhea, Type I diabetes mellitus, E... ORPHA:488618
Achondrogenesis Type 1B
Frontal bossing, Short nose, Anteverted nares ORPHA:93298
Microphthalmia, Syndromic 6
Small scrotum, Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Renal hypoplasia, Brachyc... OMIM:607932
Larsen-Like Syndrome
Frontal bossing, Absent nasal bridge, Brachycephaly OMIM:608545
Fibrochondrogenesis 2
Frontal bossing, Short nose, Anteverted nares, Midface retrusion OMIM:614524
Cooper-Jabs Syndrome
Frontal bossing, Anteverted nares, Brachycephaly ORPHA:1488
Robinow Syndrome, Autosomal Dominant 2
Frontal bossing, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Micropenis, Thickened ... OMIM:616331
Shprintzen-Goldberg Craniosynostosis Syndrome
Frontal bossing, Anteverted nares, Craniosynostosis, Cryptorchidism, Hydrocephalus, Chiari type I... OMIM:182212
Multiple Sulfatase Deficiency
Depressed nasal bridge, Anteverted nares, Splenomegaly, Hydrocephalus, Mucopolysacchariduria ORPHA:585
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse hair, Sparse eyebrow OMIM:619989
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Frontal bossing, Partial agenesis of the corpus callosum, Wide nasal bridge, Short nose, Agenesis... OMIM:620250
Trisomy 18
Choanal atresia, Abnormality of the upper urinary tract, Spina bifida, Cryptorchidism, Anencephal... ORPHA:3380
Rh-Null, Regulator Type
Hemolytic anemia, Stomatocytosis, Unconjugated hyperbilirubinemia OMIM:268150
Chromosome 19Q13.11 Deletion Syndrome, Distal
Bifid scrotum, Anteverted nares, Hypospadias, Underdeveloped nasal alae, Cryptorchidism, Wide nas... OMIM:613026
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Thrombocytopenia, Short nose, Anteverted nares, Ventriculomegaly OMIM:612394
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
Intellectual Developmental Disorder, Autosomal Recessive 5
Sparse hair, Synophrys, Thick eyebrow OMIM:611091
Saethre-Chotzen Syndrome
Depressed nasal bridge, Prominent nasal bridge, Craniosynostosis, Cryptorchidism, Brachycephaly, ... ORPHA:794
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Frontal bossing, Hydrocephalus, Partial agenesis of the corpus callosum, Hypoplasi... OMIM:614643
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Frontal bossing, Choanal atresia, Depressed nasal ridge, Brachyturricephaly, Ethmoidal encephalocele OMIM:607597
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Cryptorchidism, Brachycephaly, Nephrotic syndrome, Short columella, Short nose, Hydronephrosis, V... OMIM:601776
Microcephaly-Capillary Malformation Syndrome
Vesicoureteral reflux, Wide nose, Extra-axial cerebrospinal fluid accumulation, Short nose OMIM:614261
Holoprosencephaly 9
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Anterior pituitary... OMIM:610829
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Uruguay Faciocardiomusculoskeletal Syndrome
Wide nose, Elevated circulating creatine kinase concentration, Prominent nose, Increased circulat... OMIM:300280
Chylomicron Retention Disease
Acanthocytosis, Hypertriglyceridemia, Hypocholesterolemia ORPHA:71
Congenital Disorder Of Glycosylation, Type Ib
Proximal tubulopathy, Hypoalbuminemia, Renal cyst, Hyperinsulinemic hypoglycemia OMIM:602579
Achondrogenesis Type 1A
Frontal bossing, Short nose, Anteverted nares ORPHA:93299
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Frontal bossing, Depressed nasal bridge, Craniosynostosis, Hydrocephalus, Brachycephaly, Midface ... OMIM:245600
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Frontal bossing, Wide nose, Flat occiput, External genital hypoplasia, Prominent nasal bridge, Co... ORPHA:251028
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... OMIM:164900
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, E... ORPHA:465508
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:616355
Monosomy 18Q
Depressed nasal bridge, Prominent nose, Bilateral cryptorchidism, Hydrocephalus, Bulbous nose, Ch... ORPHA:1600
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Sparse hair, Renal hypoplasia, Fine hair OMIM:616817
Marshall-Smith Syndrome
Frontal bossing, Anteverted nares, Choanal atresia, Depressed nasal bridge, Craniosynostosis, Bil... OMIM:602535
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Sparse hair, Aminoaciduria, Hypoplastic nipples, Small nail OMIM:273400
Treacher-Collins Syndrome
Encephalocele, Frontal bossing, Hypoplasia of penis, Small scrotum, Choanal atresia, Cryptorchidi... ORPHA:861
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Underdeveloped nasal alae, Cryptorchidism, Wide nasal bridge, Hypoplasia of t... OMIM:193700
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Short nose, Cerebellar atrophy, Midface retrusion ORPHA:544503
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Bifid uterus, Epispadias, Hydrocephalu... OMIM:258040
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal insufficiency, Hypercalcemia, Testicular neoplasm, Renal hamarto... ORPHA:99880
Genitopatellar Syndrome
Wide nose, Small scrotum, Multicystic kidney dysplasia, Enlarged labia minora, Prominent nasal br... OMIM:606170
Cranioectodermal Dysplasia
Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology ORPHA:1515
Camurati-Engelmann Disease
Abnormal morphology of the radius, Metaphyseal dysplasia, Pes planus, Abnormal morphology of ulna... ORPHA:1328
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Frontal bossing, Prominent nose, Brachycephaly, Wide nasal bridge, Biparietal narrowing ORPHA:1292
16P12.1P12.3 Triplication Syndrome
Bilateral cryptorchidism, Bulbous nose, Decreased response to growth hormone stimulation test, Sh... ORPHA:485405
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Diabetes mellitus, Renal insufficiency, Renal hypoplasia/aplasia, C... ORPHA:261265
Hypoplasminogenemia
Cervicitis, Hydrocephalus, Decreased level of plasminogen, Nephrolithiasis, Abnormal fallopian tu... ORPHA:722
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Absent vas deferens, Hypospadias, Diabetes mellitus... ORPHA:93111
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Renal cyst OMIM:109130
Fontaine Progeroid Syndrome
Turricephaly, Small scrotum, Absent nipple, Depressed nasal bridge, Craniosynostosis, Cerebellar ... OMIM:612289
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Anteverted ... ORPHA:373
Knobloch Syndrome
Occipital encephalocele, Depressed nasal bridge, Calvarial skull defect, Hydrocephalus, Vesicoure... ORPHA:1571
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Gracile Bone Dysplasia
Asplenia, Hydrocephalus, Micropenis, Hypocalcemia, Hypoplastic spleen OMIM:602361
Joubert Syndrome 40
Molar tooth sign on MRI, Depressed nasal bridge OMIM:619582
Distal Deletion 9P
Hypospadias, Wide nasal bridge, Hypoplastic labia majora, Trigonocephaly, Short nose, Midface ret... ORPHA:1642
Lelis Syndrome
Yellow nails, Absent lower eyelashes, Nail dystrophy, Sparse hair, Abnormal toenail morphology, S... ORPHA:140936
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Wide nose, Anteverted nares, Decreased response to growth hormone stimulation test, Supernumerary... OMIM:213980
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair ORPHA:69735
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Male infertility, Nasal polyposis, Asplenia, Absent outer dynein arm... OMIM:244400
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal insufficiency, Hypercalcemia, Testicular neoplasm, Renal hamarto... ORPHA:143
Holoprosencephaly-Craniosynostosis Syndrome
Plagiocephaly, Holoprosencephaly, Brachycephaly, Craniosynostosis ORPHA:2163
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Hypocalcemia, Neutropenia, Hyp... ORPHA:699
Toriello-Carey Syndrome
Cryptorchidism, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the cerebellum, Sh... ORPHA:3338
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst, Depressed nasal bridge, Increased circulating very long-chain fatty acid concentration OMIM:614862
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Small scrotum, Depressed nasal bridge, Cryptorchidism, Brachycephaly, Shawl scrotum, Short nose, ... OMIM:601353
Joubert Syndrome
Encephalocele, Cerebellar vermis hypoplasia, Anteverted nares, Prominent nasal bridge, Hydrocepha... ORPHA:475
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Clitoral hypertrophy, Hypospadias, Choanal atresia, Anteverted nares, Renal ... ORPHA:818
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Elongated superior cerebellar peduncle, Splenomegaly, Sin... OMIM:615636
Fraser Syndrome 3
Hypoplasia of the bladder, Wide nose, Hypoplasia of penis, Hydrocephalus, Ureteral agenesis, Bila... OMIM:617667
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydrocephalus, Hydronephrosis, Enlarged kidney OMIM:314390
Joubert Syndrome 28
Molar tooth sign on MRI, Wide nasal bridge OMIM:617121
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short nose, Wide nasal bridge, Coronal craniosynostosis OMIM:614078
Leukodystrophy, Hypomyelinating, 10
Bulbous nose, Anteverted nares, Short nose, Hypoplasia of the brainstem OMIM:616420
Wiedemann-Rautenstrauch Syndrome
Frontal bossing, Hypertriglyceridemia, Hypospadias, Anteverted nares, Depressed nasal bridge, Nar... OMIM:264090
Halperin-Birk Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Semilobar holoprosencephaly OMIM:618651
Zttk Syndrome
Frontal bossing, Depressed nasal bridge, Polyuria, Unilateral renal agenesis, Craniosynostosis, D... OMIM:617140
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Curly hair, Sparse eyelashes, Sparse hair, Alopecia of scalp OMIM:615280
Acrofacial Dysostosis, Palagonia Type
Sparse eyelashes, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sparse lateral ey... ORPHA:1787
Bartsocas-Papas Syndrome
Underdeveloped nasal alae, Renal hypoplasia/aplasia, Hypoplastic male external genitalia, Ambiguo... ORPHA:1234
Trisomy 12P
Short nose, Abnormality of the urinary system, Wide nasal bridge, Turricephaly ORPHA:1699
Fibrochondrogenesis 1
Hypoplastic scapulae, Broad long bones, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia... OMIM:228520
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Precocious puberty, Short nose, Anteverted nares OMIM:619356
Glucagonoma
Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone c... ORPHA:97280
Rabin-Pappas Syndrome
Broad nasal tip, Hypoplasia of the pons, Hydrocephalus, Wide nasal bridge, Chiari type I malforma... OMIM:620155
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Hydrocephalus, Leukocytosis, Spleno... OMIM:259720
Cartilage-Hair Hypoplasia
Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, Wide nasal bridge, Brachycephaly... ORPHA:175
8P23.1 Microdeletion Syndrome
Hypospadias, Prominent nasal bridge, Cryptorchidism, Wide nasal bridge, Biparietal narrowing, Sho... ORPHA:251071
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Oxoglutaric Aciduria
Hydrocephalus, Abnormal urine alpha-ketoglutarate concentration ORPHA:31
Distal Duplication 5Q
Hypospadias, Prominent nasal bridge, Craniosynostosis, Cryptorchidism, Aplasia/Hypoplasia of the ... ORPHA:96097
Faciodigitogenital Syndrome, Autosomal Recessive
Anteverted nares, Prominent nasal bridge, Cryptorchidism, Brachycephaly, Pollakisuria, Shawl scro... OMIM:227330
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Frontal bossing, Short nose, Midface retrusion, Thin calvarium ORPHA:1129
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Anteverted nares, Testicular atrophy OMIM:601163
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Underdeveloped nas... OMIM:616007
Cardiofaciocutaneous Syndrome 1
Depressed nasal bridge, Anteverted nares, Splenomegaly, Bulbous nose, Hydrocephalus, Dolichocepha... OMIM:115150
Histiocytoid Cardiomyopathy
Hydrocephalus, Renal cyst, Polycystic ovaries, Cerebellar malformation, Agenesis of corpus callosum ORPHA:137675
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Bulbous nose, Wide nasal bridge, Short nose OMIM:620292
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... OMIM:108720
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Recurrent urinary tract infections, Hypospadias, Decreased response to growth hormone stimulation... ORPHA:268261
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
White-Sutton Syndrome
Duplicated collecting system, Depressed nasal bridge, Broad nasal tip, Brachycephaly, Depressed n... OMIM:616364
Dubowitz Syndrome
Hypoparathyroidism, Hypospadias, Depressed nasal bridge, Abnormality of neutrophils, Craniosynost... ORPHA:235
Melanocytic Nevus Syndrome, Congenital
Short nose, Anteverted nares, Narrow nasal ridge, Broad nasal tip OMIM:137550
9P13 Microdeletion Syndrome
Anteverted nares, External genital hypoplasia, Precocious puberty, Brachycephaly, Wide nasal bridge ORPHA:324313
Basal Cell Nevus Syndrome 2
Frontal bossing, Hydrocephalus OMIM:620343
Mend Syndrome
Prominent nasal bridge, Cryptorchidism, Hydrocephalus, Bulbous nose, Crossed fused renal ectopia,... OMIM:300960
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Elevated circulating creatine kinase concentration, External genital hypoplasia, Cerebellar hypop... ORPHA:329178
Osteogenesis Imperfecta, Type Xii
Brachyturricephaly, Depressed nasal bridge, Midface retrusion OMIM:613849
Lamellar Ichthyosis
Sparse hair, Renal insufficiency, Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow ORPHA:313
Pterygium Colli, Isolated
Short nose OMIM:177990
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Anteverted nares, Prominent nasal bridge, Cryptorchidism, Bulbous nose, Brachycephaly, Thickened ... OMIM:309583
Congenital Heart Defects And Skeletal Malformations Syndrome
Frontal bossing, Hypospadias, Long nose, Cryptorchidism, Short nose, Narrow nose OMIM:617602
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... ORPHA:99429
Oligodontia-Colorectal Cancer Syndrome
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair OMIM:608615
Desbuquois Syndrome
Sparse hair, Abnormal eyelash morphology ORPHA:1425
Tuberous Sclerosis 1
Precocious puberty, Renal cyst, Renal cell carcinoma, Adenoma sebaceum, Subependymal nodules, Ren... OMIM:191100
Hajdu-Cheney Syndrome
Wide nose, Hypospadias, Anteverted nares, Dolichocephaly, Splenomegaly, Hydrocephalus, Wide nasal... ORPHA:955
Xp22.13P22.2 Duplication Syndrome
Sparse hair, High anterior hairline, Polycystic ovaries ORPHA:284180
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Fetal Hydantoin Syndrome
Bifid scrotum, Cryptorchidism, Short nose, Depressed nasal ridge ORPHA:1912
Cenani-Lenz Syndrome
Frontal bossing, Crossed fused renal ectopia, Renal hypoplasia/aplasia, Short nose, Hypothyroidis... ORPHA:3258
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Distal Renal Tubular Acidosis
Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria,... ORPHA:18
White-Kernohan Syndrome
Hydroureter, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Dysplastic corp... OMIM:619426
Specc1L-Related Hypertelorism Syndrome
Prominent nasal bridge, Ectopic kidney, Cryptorchidism, Wide nasal bridge, Brachycephaly, Shawl s... ORPHA:1519
Coffin-Siris Syndrome 1
Frontal bossing, Hydroureter, Hypospadias, Choanal atresia, Depressed nasal bridge, Broad nasal t... OMIM:135900
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... ORPHA:2322
Robinow Syndrome
Decreased serum testosterone concentration, Multicystic kidney dysplasia, Small scrotum, Antevert... ORPHA:97360
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Duplicated collecting system, Frontal bossing, Depressed nasal bridge, Wide nasal bridge, Brachyc... OMIM:280000
Thakker-Donnai Syndrome
Communicating hydrocephalus, Anteverted nares, Bulbous nose, Agenesis of corpus callosum, Hydrone... ORPHA:1780
Dysostosis, Stanescu Type
Narrow nasal bridge, Abnormal nasal morphology, Brachycephaly, Midface retrusion, Convex nasal ridge ORPHA:1798
Pantothenate Kinase-Associated Neurodegeneration
Iron accumulation in substantia nigra, Abetalipoproteinemia, Acanthocytosis ORPHA:157850
Odontochondrodysplasia
Frontal bossing, Short nose, Depressed nasal bridge ORPHA:166272
Sclerosteosis 1
Syndactyly, Papilledema, Sclerotic scapulae, 2-3 finger syndactyly, Optic atrophy, Facial palsy s... OMIM:269500
Whipple Disease
Hyponatremia, Splenomegaly, Hydrocephalus, Erectile dysfunction, Hypothyroidism, Anemia ORPHA:3452
Omodysplasia 2
Short humerus, Dyspareunia, Micrognathia, Cryptorchidism, Fibular hypoplasia, Hypoplastic distal ... OMIM:164745
Acrocephalopolydactylous Dysplasia
Craniosynostosis, Oxycephaly, Polysplenia, Short nose, Cystic renal dysplasia, Enlarged kidney OMIM:200995
Bardet-Biedl Syndrome 12
Hydroureter, Hydrometrocolpos, Cystic renal dysplasia, Hydronephrosis, Hypogonadism, Vaginal atresia OMIM:615989
Dextrocardia
Abnormal reproductive system morphology, Abnormality of the spleen, Hydrocephalus, Abnormal renal... ORPHA:1666
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Depressed nasal ridge ORPHA:1861
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Small pituitary gland, Ventriculomegaly OMIM:614195
Opitz-Kaveggia Syndrome
Frontal bossing, Hypospadias, Choanal atresia, Prominent nose, Cryptorchidism, Hydrocephalus, Par... OMIM:305450
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Frontal bossing, Wide nose, Depressed nasal bridge, Anteverted nares, Short nose OMIM:613320
Osteopathia Striata With Cranial Sclerosis
Frontal bossing, Multicystic kidney dysplasia, Hydrocephalus, Partial agenesis of the corpus call... OMIM:300373
Penile Agenesis
Urethral atresia, male, Depressed nasal bridge, Hydroureter, Maternal diabetes, Cryptorchidism, F... ORPHA:49
Ichthyosis, Congenital, Autosomal Recessive 5
Acanthocytosis OMIM:604777
Short-Rib Thoracic Dysplasia 12
Splenomegaly, Hydrocephalus, Anencephaly, Renal hypoplasia, Hypoplastic nipples, Holoprosencephal... OMIM:269860
Orofaciodigital Syndrome Type 1
Frontal bossing, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Choanal atresia,... ORPHA:2750
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Thickened calvaria, Hypospadias, External genital hypoplasia, Choanal ... ORPHA:2658
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Sparse facial hair, Sparse axillary hair OMIM:608154
Thanatophoric Dysplasia, Type I
Frontal bossing, Hydrocephalus, Cloverleaf skull, Midface retrusion OMIM:187600
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Elliptocytosis OMIM:611804
Wilson Disease
Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbuminemia, Hypoparathyroi... OMIM:277900
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Pagod Syndrome
Encephalocele, Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/aplasia, Abnormality ... ORPHA:991
Koolen-De Vries Syndrome Due To A Point Mutation
Decreased response to growth hormone stimulation test, Fetal pyelectasis, Pineal cyst, Chiari typ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Fetal pyelectasis, Pineal cyst, Chiari typ... ORPHA:363958
Olmsted Syndrome 1
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis OMIM:614594
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl... ORPHA:958
Microgastria-Limb Reduction Defect Syndrome
Frontal bossing, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Abnormal... ORPHA:2538
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Hypospadias, Absent eyelashes, Patchy a... OMIM:106260
Richieri-Costa/Guion-Almeida Syndrome
Spina bifida occulta, Brachycephaly OMIM:268850
Campomelic Dysplasia
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Small abnormally ... ORPHA:140
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Abnormality of the kidney, Nephrolithiasis, Wide nasal bridge, Congenital hypothyroidism, Brachyc... ORPHA:521445
Meier-Gorlin Syndrome 6
Frontal bossing, Anteverted nares, Decreased response to growth hormone stimulation test, Depress... OMIM:616835
Osteootohepatoenteric Syndrome
Proteinuria, Hydrocephalus, Grade II vesicoureteral reflux, Hypokalemia, Increased serum bile aci... OMIM:619377
Acrofacial Dysostosis, Catania Type
Cryptorchidism, Short nose, Spina bifida occulta, Hypospadias ORPHA:1786
Kbg Syndrome
Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Epispadias, Cryptorchidism, ... OMIM:148050
Tuberous Sclerosis 2
Absence of renal corticomedullary differentiation, Precocious puberty, Renal cyst, Renal cell car... OMIM:613254
Poikiloderma With Neutropenia
Frontal bossing, Depressed nasal bridge, Elevated circulating creatine kinase concentration, Unde... OMIM:604173
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... OMIM:250250
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Anteverted nares, Short nose OMIM:618961
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Frontal bossing, Short nose OMIM:256600
Foxg1 Syndrome Due To 14Q12 Microdeletion
Agenesis of corpus callosum, Bulbous nose, Depressed nasal bridge, Short nose ORPHA:261144
Noonan Syndrome 6
Sparse hair, Curly hair, Long eyebrows, Low posterior hairline OMIM:613224
Deeah Syndrome
Decreased hemoglobin concentration, Decreased response to growth hormone stimulation test, Anteri... OMIM:619004
Cleidocranial Dysplasia
Hypoplastic scapulae, Down-sloping shoulders, Tapered finger, Abnormal thumb morphology, Microgna... ORPHA:1452
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Cerebellar hemangioblastoma, Papillary cystadenoma of... OMIM:193300
Tetrasomy 12P
Frontal bossing, Short nose, Anteverted nares ORPHA:884
Menkes Disease
Sparse hair, Alopecia, Brittle hair OMIM:309400
Olmsted Syndrome 2
Sparse hair, Woolly hair, Alopecia universalis OMIM:619208
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Acanthocytosis, Abnormal erythrocyte enzyme l... ORPHA:2388
Pentalogy Of Cantrell
Encephalocele, Absent gallbladder, Hypospadias, Renal agenesis, Hydrocephalus, Anencephaly, Polys... ORPHA:1335
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate, Hypercholesterolemia, Hyp... ORPHA:90065
Robinow Syndrome, Autosomal Dominant 3
Frontal bossing, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Wide nasal bridge, Cli... OMIM:616894
Mucopolysaccharidosis, Type Ii
Heparan sulfate excretion in urine, Splenomegaly, Hydrocephalus, Scaphocephaly, Dermatan sulfate ... OMIM:309900
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Hypoplastic nasal bridge, Frontal bossing, Anteverted nares, Sa... OMIM:609942
Japanese Encephalitis
Hyponatremia, Increased CSF protein concentration, Neutrophilia, Abnormal substantia nigra morpho... ORPHA:79139
19Q13.11 Microdeletion Syndrome
Hypospadias, Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Nail dysplasia, Sparse ... ORPHA:217346
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Premature thelarche, Brachycephaly, Polycystic ovaries, Type I diabetes mellitus, Nodular goiter ORPHA:371428
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Urinary incontinence, Abnormal occipital bone mo... ORPHA:2356
Trichothiodystrophy 1, Photosensitive
Brittle hair, Trichoschisis, Fine hair, Fragile nails, Nail dystrophy, Small nail, Sparse hair, T... OMIM:601675
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Congenital Disorder Of Glycosylation, Type Iia
Prominent nasal bridge, Brachycephaly, Cerebellar hypoplasia, Convex nasal ridge, Low hanging col... OMIM:212066
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Brachycephaly, Supernumerary nipple OMIM:616083
Ifap Syndrome 2
Sparse hair, Nail dystrophy, Atrichia OMIM:619016
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Prominent nose, Brachycephaly, Hypocalcemi... OMIM:619503
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Ectopic kidney, Gonadotropin deficiency, Depressed nasal ridge... ORPHA:672
Nablus Mask-Like Facial Syndrome
Frontal bossing, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Cryptorchidism, Wide... OMIM:608156
Hurler Syndrome
Frontal bossing, Depressed nasal bridge, Anteverted nares, Splenomegaly, Hydrocephalus, Wide nasa... ORPHA:93473
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Anteverted nares, Hypospadias, Epispadias, Abnormality of the ureter, ... ORPHA:3339
Meningioma
Decreased circulating cortisol level, Urinary incontinence, Reduced circulating prolactin concent... ORPHA:2495
Oculodentodigital Dysplasia, Autosomal Recessive
Frontal bossing, Underdeveloped nasal alae, Long nose, Brachycephaly, Narrow nose OMIM:257850
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Campomelia, Cumming Type
Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts, Dolichocephaly ORPHA:1318
Momo Syndrome
Frontal bossing, Brachycephaly, Wide nasal bridge OMIM:157980
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Prominent nasal bridge, Narrow nasal ridge, Craniosynostosis, Hydr... OMIM:616914
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Agenesis of corpus callosum, Bifid nose, Ectopic kidney ORPHA:268249
Fraser Syndrome 1
Encephalocele, Wide nose, Cleft ala nasi, Hypospadias, Depressed nasal bridge, Underdeveloped nas... OMIM:219000
Tibial Hemimelia
Absent tibia OMIM:275220
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Depressed nasal bridge, Bulbous nose, Wide nasal bridge, Short nose, Midface retrusion OMIM:617061
Miller-Dieker Lissencephaly Syndrome
Frontal bossing, Anteverted nares, Cryptorchidism, Wide nasal bridge, Short nose, Pelvic kidney OMIM:247200
Pelvis-Shoulder Dysplasia
Hydranencephaly, Spina bifida, Hydrocephalus, Ambiguous genitalia, Hydronephrosis ORPHA:2839
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Sparse hair, Brittle hair, Absent nipple, Absent hair OMIM:614940
Cerebrooculofacioskeletal Syndrome 2
Sparse hair, Micropenis OMIM:610756
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Hypospadias, Asplenia, Choroid plexus cyst, Dilatation of the renal pelvis, Brachyce... OMIM:265380
Hawkinsinuria
Sparse hair, Hawkinsinuria, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria OMIM:140350
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Alopecia, Multicystic kidney dysplasia, Recurre... ORPHA:79404
Developmental And Epileptic Encephalopathy 75
Short nose, Anteverted nares, Wide nasal bridge OMIM:618437
Craniosynostosis And Dental Anomalies
Frontal bossing, Wide nose, Flat occiput, Depressed nasal bridge, Turricephaly, Sagittal craniosy... OMIM:614188
Chops Syndrome
Anteverted nares, Splenomegaly, Cryptorchidism, Horseshoe kidney, Vesicoureteral reflux, Short nose OMIM:616368
Trisomy 9P
Abnormal nasal morphology, Brachycephaly ORPHA:236
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Micrognathi... OMIM:618150
Hec Syndrome
Communicating hydrocephalus, Vaginal hydrocele ORPHA:2119
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Wide nasal bridge, Short nose OMIM:611936
Cranioectodermal Dysplasia 2
Frontal bossing, Renal insufficiency, Cloverleaf skull, Depressed nasal bridge, Craniosynostosis,... OMIM:613610
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Shukla-Vernon Syndrome
Sparse hair OMIM:301029
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagn... ORPHA:2239
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Renal agenesis, Broad nasal tip, Hypothalamic hamartoma, Molar toot... OMIM:277170
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Renal neoplasm, Frontal bossing, Depressed nasal bridge, Anteverted nares, Craniosynostosis, Hydr... ORPHA:536467
Cerebellofaciodental Syndrome
Hypoplasia of the pons, Cryptorchidism, Cerebellar hypoplasia, Hypoplasia of the midbrain, Ventri... OMIM:616202
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short nose, Spina bifida occulta, Anteverted nares, Midface retrusion OMIM:617877
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyd... ORPHA:91350
Oculocerebrofacial Syndrome, Kaufman Type
Flat occiput, Brachycephaly, Clitoral hypertrophy ORPHA:2707
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Cryptorchidism, Hydrocephalus, Wide nasal bridge ORPHA:1865
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Sparse hair, Hirsutism OMIM:618087
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Stillbirth, Cystic renal dysplasia, Hepatic cysts OMIM:615415
Rhizomelic Dysplasia, Patterson-Lowry Type
Wide nose, Depressed nasal ridge, Short nose ORPHA:2831
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Diabetes mellitus, Brachycephaly, Aplasia/Hypoplasia of the pancreas, Cerebellar hemisphere hypop... ORPHA:456312
Bathing Suit Ichthyosis
Sparse hair, Alopecia, Nail dystrophy ORPHA:100976
Osteogenesis Imperfecta, Type Xx
Plagiocephaly, Bulbous nose, Brachycephaly, Midface retrusion OMIM:618644
Simpson-Golabi-Behmel Syndrome, Type 1
Cerebellar vermis hypoplasia, Hypospadias, Anteverted nares, Supernumerary nipple, Depressed nasa... OMIM:312870
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Short nose, Wide nasal bridge, Dandy-Walker malformation, Broad nasal tip OMIM:614207
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Short nose, Anteverted nares OMIM:619854
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Anteverted nares, Prominent nose, Precocious puberty, Broad nasal tip, Bulbous nose, Wide nasal b... OMIM:619950
Trichohepatoneurodevelopmental Syndrome
Splenomegaly, Bulbous nose, Brachycephaly, Plagiocephaly, Hypoplastic nipples, Increased serum bi... OMIM:618268
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Achondroplasia
Frontal bossing, Depressed nasal bridge, Hydrocephalus, Brain stem compression, Choanal stenosis,... OMIM:100800
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Depressed nasal bridge, Anteverted nares, Increased circulating IgM level, T lymphocytopenia, Sho... OMIM:242860
Osteoglophonic Dysplasia
Frontal bossing, Cloverleaf skull, Anteverted nares, Hypospadias, Depressed nasal bridge, Choanal... OMIM:166250
Mucopolysaccharidosis Type 1
Depressed nasal bridge, Abnormal nasal morphology, Splenomegaly, Hydrocephalus, Mucopolysaccharid... ORPHA:579
Intellectual Developmental Disorder, Autosomal Dominant 66
Plagiocephaly, Brachycephaly OMIM:619910
Hallermann-Streiff Syndrome
Frontal bossing, Choanal atresia, Underdeveloped nasal alae, Cryptorchidism, Brachycephaly, Cereb... ORPHA:2108
Tetrasomy 9P
Renal dysplasia, Absent gallbladder, Recurrent urinary tract infections, Cryptorchidism, Hydrocep... ORPHA:3310
Johnson Neuroectodermal Syndrome
Sparse hair, Absent eyebrow, Alopecia, Absent eyelashes ORPHA:2316
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Sparse hair, Polycystic ovaries OMIM:268020
Elsahy-Waters Syndrome
Bifid scrotum, Wide nose, Anteverted nares, Hypospadias, Bilateral cryptorchidism, Bifid nasal ti... OMIM:211380
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Wide nose, Depressed nasal bridge, Bulbous nose, Brachycephaly, Ventriculomegaly OMIM:610442
Mend Syndrome
Prominent nasal bridge, Cryptorchidism, Elevated 8-dehydrocholesterol, Hydrocephalus, Elevated 8(... ORPHA:401973
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebellar cyst OMIM:616538
Congenital Disorder Of Deglycosylation 1
Anteverted nares, Elevated circulating alpha-fetoprotein concentration, Heparan sulfate excretion... OMIM:615273
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Wide nasal bridge, Renal cyst OMIM:615560
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Peho Syndrome
Cerebellar atrophy, Short nose OMIM:260565
Autosomal Recessive Robinow Syndrome
Frontal bossing, Hypoplasia of penis, Multicystic kidney dysplasia, Anteverted nares, Depressed n... ORPHA:1507
Dyskeratosis Congenita, Autosomal Recessive 6
Sparse hair, Alopecia, Nail dystrophy OMIM:616353
Iniencephaly
Encephalocele, Renal agenesis, Spina bifida, Abnormal occipital bone morphology, Hydrocephalus, M... ORPHA:63259
Alveolar Echinococcosis
Eosinophilia, Hepatic cysts, Pancreatic cysts, Renal cyst, Abnormal spleen morphology, Abnormal a... ORPHA:284
Mitochondrial Complex I Deficiency, Nuclear Type 33
Sparse hair, Hypospadias OMIM:618253
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Frontal bossing, Small scrotum, Cerebellar vermis hypoplasia, Broad nasal tip, Scaphocephaly, Wid... OMIM:620330
Joubert Syndrome 33
Molar tooth sign on MRI, Splenomegaly OMIM:617767
Rhizomelic Chondrodysplasia Punctata
Alopecia, Sparse body hair ORPHA:177
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Megalo... ORPHA:79282
Fraser Syndrome
Encephalocele, Hypoplasia of penis, Small scrotum, Hypospadias, Cleft ala nasi, Depressed nasal b... ORPHA:2052
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Cerebellar vermis hypoplasia, Epispadias, Cryptorchidism, Partial agenes... OMIM:615948
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Micrognathia, ... ORPHA:2879
Carpenter Syndrome 2
Frontal bossing, Anteverted nares, Depressed nasal bridge, Supernumerary nipple, Craniosynostosis... OMIM:614976
Lymphangioleiomyomatosis
Abnormal urinary color, Renal neoplasm, Hydrocephalus, Hematuria, Multiple renal cysts, Renal ang... ORPHA:538
Robinow Syndrome, Autosomal Recessive 1
Frontal bossing, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Wide nasal bridge, Nep... OMIM:268310
Mesomelic Dysplasia, Nievergelt Type
Brachycephaly, Dolichocephaly ORPHA:2633
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Agenesis of corpus callosum, Multiple renal cysts... OMIM:618733
Pseudoaminopterin Syndrome
Frontal bossing, Prominent nasal bridge, Sagittal craniosynostosis, Asplenia, Cryptorchidism, Hyd... ORPHA:221120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Hypoplasia of the brainstem, Holoprosencephaly, Cerebellar hypoplas... OMIM:253800
Aromatase Deficiency
Osteopenia, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Femal... ORPHA:91
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Glomeru... OMIM:233450
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Noncommunicating hydrocephalus, Chronic rhinitis OMIM:618699
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Cerebellar vermis hypoplasia, Anterior pituitary hypoplasia, Fetal p... OMIM:619841
Coccidioidomycosis
Abnormal sperm morphology, Renal insufficiency, Eosinophilia, Abnormality of the kidney, Abnormal... ORPHA:228123
Ctcf-Related Neurodevelopmental Disorder
Anteverted nares, Craniosynostosis, Phimosis, Broad nasal tip, Cryptorchidism, Hypoplastic labia ... ORPHA:363611
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Partial agenesis of the corpus callosum, Elevated circulating creatinine con... OMIM:617478
Radio-Renal Syndrome
Multicystic kidney dysplasia, Depressed nasal bridge, Convex nasal ridge, Renal agenesis, Renal h... ORPHA:3015
Mandibuloacral Dysplasia Progeroid Syndrome
Frontal bossing, Hypertriglyceridemia, Depressed nasal bridge, Elevated hemoglobin A1c, Narrow na... OMIM:619127
Distal 22Q11.2 Microduplication Syndrome
Frontal bossing, Wide nose, Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Bulbous nos... ORPHA:261337
6Q Terminal Deletion Syndrome
Hypospadias, Phimosis, Plagiocephaly, Colpocephaly, Cerebellar hypoplasia, Dolichocephaly ORPHA:75857
Beckwith-Wiedemann Syndrome
Ureteral duplication, Vesicoureteral reflux, Nephropathy, Hypothyroidism, Polycythemia, Cryptorch... ORPHA:116
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Anteverted nares, Broad nasal tip, Prominent nasolabial fold, Abnormal circulating apolipoprotein... ORPHA:357074
Frontofacionasal Dysplasia
Underdeveloped nasal alae, Brachycephaly, Bifid nose, Midline defect of the nose, Cranium bifidum... OMIM:229400
Trichorhinophalangeal Syndrome, Type I
Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp... OMIM:190350
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypoplasia of penis, Sparse body hair ORPHA:2234
Microlissencephaly-Micromelia Syndrome
Hypoparathyroidism, Fetal pyelectasis, Abnormal circulating calcium-phosphate regulating hormone ... ORPHA:50810
Odontoonychodermal Dysplasia
Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Fine hair, Nail ... OMIM:257980
Intellectual Developmental Disorder, Autosomal Dominant 29
Cryptorchidism, Wide nose, Frontal bossing, Brachycephaly OMIM:616078
Stickler Syndrome Type 1
Short nose ORPHA:90653
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose ORPHA:289266
Robinow Syndrome, Autosomal Recessive 2
Frontal bossing, Anteverted nares, Broad nasal tip, Wide nasal bridge, Short nose, Midface retrusion OMIM:618529
De Barsy Syndrome
Cryptorchidism, Prominent nasolabial fold, Cerebellar vermis hypoplasia, Brachycephaly ORPHA:2962
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Wide nasal bridge, Nephrocalcinosis, Neutropenia, Short nose, Hypothyroidism OMIM:618005
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Osteogenesis Imperfecta
Thrombocytopenia, Hydrocephalus, Noncommunicating hydrocephalus, Nephrolithiasis, Hypercalciuria,... ORPHA:666
Contractural Arachnodactyly, Congenital
Frontal bossing, Scaphocephaly, Brachycephaly, Dolichocephaly OMIM:121050
Incontinentia Pigmenti
Ridged nail, Alopecia, Supernumerary nipple, Nail pits, Fine hair, Coarse hair, Breast aplasia, H... OMIM:308300
Cole-Carpenter Syndrome
Communicating hydrocephalus, Frontal bossing, Turricephaly, Midface retrusion ORPHA:2050
Desbuquois Dysplasia 1
Short nose, Concave nasal ridge, Depressed nasal bridge, Midface retrusion OMIM:251450
Momo Syndrome
Abnormality of the thyroid gland, Frontal bossing, Wide nasal base, Brachycephaly ORPHA:2563
16P11.2P12.2 Microdeletion Syndrome
Frontal bossing, Anteverted nares, Long nose, Bulbous nose, Absent nasal bridge, Short nose ORPHA:261211
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Immotile sperm OMIM:613807
Rodrigues Blindness
Sparse hair, Fine hair OMIM:268320
Congenital Disorder Of Glycosylation, Type Iie
Cerebellar atrophy, Wide nose, Neurogenic bladder, Elevated circulating creatine kinase concentra... OMIM:608779
Intellectual Developmental Disorder, X-Linked 98
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Long... OMIM:300912
Spondyloepimetaphyseal Dysplasia, Krakow Type
Frontal bossing, Allergic rhinitis, Hydrocephalus, Decreased circulating total IgM, Chiari malfor... OMIM:618162
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Hydro... ORPHA:2473
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... OMIM:276820
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Sparse hair OMIM:620001
Cystinosis, Nephropathic
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... OMIM:219800
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Hydrocephalus, Plagiocephaly, Hypogonadism, Midface retrusion, Anemia ORPHA:3042
Congenital Sialidosis Type 2
Hydrocephalus, Abnormality of the kidney, Hepatosplenomegaly ORPHA:93400
Borjeson-Forssman-Lehmann Syndrome
Sparse hair, Hypoplasia of penis, Thick eyebrow ORPHA:127
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Testicular atrophy, Thrombocytopenia OMIM:613987
Fanconi Anemia, Complementation Group S
Sparse hair, Long eyelashes, Low anterior hairline OMIM:617883
Mucoepithelial Dysplasia, Hereditary
Alopecia, Hematuria, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilial n... OMIM:158310
Spondylocarpotarsal Synostosis Syndrome
Frontal bossing, Anteverted nares, Broad nasal tip, Renal cyst, Platybasia, Short nose OMIM:272460
Plaa-Associated Neurodevelopmental Disorder
Short nose, Ventriculomegaly, Cerebellar cortical atrophy ORPHA:521426
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Cerebellar atrophy, Short nose, Depressed nasal bridge OMIM:617802
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Choanal atresia, Renal agenesis, Absent external genitalia, Asp... OMIM:273395
Gorlin-Chaudhry-Moss Syndrome
Aplasia/Hypoplasia of the nasal bone, Brachycephaly, Coronal craniosynostosis ORPHA:2095
Spondylocostal Dysostosis 4, Autosomal Recessive
Neurogenic bladder, Hydrocephalus, Myelomeningocele, Chiari type II malformation, Spina bifida oc... OMIM:613686
Waardenburg Syndrome Type 1
Spina bifida, Underdeveloped nasal alae, Meningocele, Wide nasal bridge, Short nose ORPHA:894
X-Linked Intellectual Disability, Armfield Type
Depressed nasal bridge, Cryptorchidism, Brachycephaly, Aminoaciduria, Organic aciduria, Galactosu... ORPHA:85276
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Frontal bossing, Hypospadias, Parietal foramina, Brachycephaly, Plagiocephaly, Coronal craniosyno... ORPHA:85199
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma, Renal cyst, Thyroid adenoma OMIM:617100
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Patchy alopecia OMIM:617763
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Frontal bossing, Anteverted nares, Craniosynostosis, Cryptorchidism,... ORPHA:2462
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Frontal bossing, Recurrent urinary tract infections, Depressed nasal bridge, Anteverted nares, Br... OMIM:617157
Townes-Brocks Syndrome 1
Bifid scrotum, Multicystic kidney dysplasia, Rectoperineal fistula, Hypospadias, Choanal atresia,... OMIM:107480
Opsismodysplasia
Frontal bossing, Flat occiput, Depressed nasal bridge, Splenomegaly, Short nose ORPHA:2746
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Nail dystrophy,... ORPHA:1010
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hypomethioninemia, Hydrocephalus, Hyperhomocystinemia, Cystathioninemia, Homocystinuria, Ventricu... ORPHA:395
Fucosidosis
Mucopolysacchariduria, Hypothyroidism, Brachycephaly ORPHA:349
Branchioskeletogenital Syndrome
Thickened calvaria, Absent nipple, Depressed nasal bridge, Ureteral stenosis, Craniosynostosis, A... ORPHA:1299
Renpenning Syndrome 1
Hypospadias, Phimosis, Bulbous nose, Wide nasal bridge, Renal hypoplasia, Brachycephaly, Decrease... OMIM:309500
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus, Midface retrusion OMIM:224400
Cousin Syndrome
Frontal bossing, Hydrocephalus, Ambiguous genitalia, female, Ambiguous genitalia, male, Hydranenc... OMIM:260660
Trichorhinophalangeal Syndrome Type 1
Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails ORPHA:77258
C Syndrome
Multicystic kidney dysplasia, Depressed nasal bridge, Anteverted nares, Renal hypoplasia/aplasia,... ORPHA:1308
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Sparse hair OMIM:607626
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Renal dysplasia, Sparse scalp hair, Duplicated collecting system, Hydroureter, Sparse eyelashes, ... OMIM:129900
Adams-Oliver Syndrome
Encephalocele, Hydrocephalus, Leukopenia, Calvarial skull defect, Thrombocytopenia ORPHA:974
Campomelic Dysplasia
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... OMIM:114290
Joubert Syndrome 38
Frontal bossing, Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Decreased response to... OMIM:619476
Cockayne Syndrome A
Cerebellar atrophy, Slender nose, Renal insufficiency, Proteinuria, Prominent nose, Cryptorchidis... OMIM:216400
Mandibulofacial Dysostosis, Guion-Almeida Type
Anteverted nares, Choanal atresia, Trigonocephaly, Short nose, Midface retrusion OMIM:610536
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Hypospadias, Anteverted nares, Cryptorchidism, Male pseudohermaphroditism, Wide nasal bridge, Sha... ORPHA:2282
Holoprosencephaly 13, X-Linked
Alobar holoprosencephaly, Colpocephaly, Aplasia of the nose, Agenesis of corpus callosum, Semilob... OMIM:301043
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Enuresis, Neural tube defect, Chiari malformati... ORPHA:268810
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Short nose, Ventriculomegaly OMIM:617527
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Uterine leiomyoma, Renal cyst, Thyroid adenoma ORPHA:480536
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... ORPHA:892
Aredyld Syndrome
Abnormality of the ureter, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:1133
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Transient neutropenia, Renal cyst, Midface retrusion, Nephroblastoma, Bifid ur... OMIM:617107
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Hydroureter, Megacystis ORPHA:2241
Al-Raqad Syndrome
Short nose OMIM:616459
Mandibuloacral Dysplasia With Type B Lipodystrophy
Narrow nasal ridge, Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Stage ... OMIM:608612
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Sparse hair, Nail dystrophy ORPHA:98813
Witteveen-Kolk Syndrome
Frontal bossing, Wide nose, Hypospadias, Decreased response to growth hormone stimulation test, U... OMIM:613406
Ayme-Gripp Syndrome
Depressed nasal bridge, Brachycephaly, Wide nasal bridge, Chiari type I malformation, Short nose,... OMIM:601088
Mosaic Variegated Aneuploidy Syndrome 2
Frontal bossing, Depressed nasal bridge, Decreased response to growth hormone stimulation test, C... OMIM:614114
Premature Aging Syndrome, Penttinen Type
Frontal bossing, Aplasia of the nasal bone, Prominent nasal bridge, Retrocerebellar cyst, Thin ca... OMIM:601812
Primrose Syndrome
Diabetes mellitus, Hypergonadotropic hypogonadism, Anteverted nares, Elevated circulating alpha-f... OMIM:259050
Scarf Syndrome
Perineal hypospadias, Low posterior hairline, Hypoplastic nipples, Sparse hair, Micropenis ORPHA:3134
Boomerang Dysplasia
Absent radius, Hypoplastic iliac body, Fibular aplasia OMIM:112310
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... ORPHA:84081
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal... OMIM:613159
Autosomal Dominant Robinow Syndrome
Abnormal penis morphology, Frontal bossing, Hypoplasia of penis, Wide nose, Hypospadias, Antevert... ORPHA:3107
Achard Syndrome
Broad skull, Brachycephaly OMIM:100700
Tetrasomy 18P
Short nose ORPHA:3307
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse hair, Sparse eyelashes, Sparse eyebrow OMIM:224900
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Atelosteogenesis Type I
Multiple renal cysts, Abnormal pancreatic duct morphology, Midface retrusion ORPHA:1190
Meier-Gorlin Syndrome 1
Absent sternal ossification, Genu recurvatum, Coxa valga, Aplasia/Hypoplasia of the patella, Micr... OMIM:224690
Chromosome Xq27.3-Q28 Duplication Syndrome
Sparse body hair OMIM:300869
Autosomal Recessive Faciodigitogenital Syndrome
Frontal bossing, Anteverted nares, Prominent nasal bridge, Brachycephaly, Shawl scrotum, Short nose ORPHA:1974
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Sparse hair, Alopecia, Fragile nails OMIM:242150
Angelman Syndrome
Flat occiput, Brachycephaly OMIM:105830
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Brachycephaly OMIM:614800
3Q29 Microdeletion Syndrome
Short nose, Hypospadias, Prominent nasal bridge, Horseshoe kidney ORPHA:65286
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Frontal bossing, Depressed nasal bridge, Anteverted nares, Bulbous nose, Chiari malformation, Neu... OMIM:271510
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Wide nose, Hypospadias, Epispadias, Hydrocephalus, Male pseudohermaphr... ORPHA:2556
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Loeys-Dietz Syndrome 5
Midface retrusion, Prominent nasal bridge, Brachycephaly, Dolichocephaly, Overhanging nasal tip OMIM:615582
Mandibulofacial Dysostosis-Microcephaly Syndrome
Trigonocephaly, Short nose ORPHA:79113
Thoracoabdominal Syndrome
Anencephaly, Hydrocephalus, Renal agenesis, Hypospadias OMIM:313850
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Underdeveloped nasal alae, Biliary hyperplasia, Cryptorchidism, Wide na... ORPHA:83617
Joubert Syndrome 17
Molar tooth sign on MRI, Abnormal renal morphology OMIM:614615
Senior-Loken Syndrome 1
Renal insufficiency, Thickening of the tubular basement membrane, Polyuria, Impaired renal concen... OMIM:266900
Teebi-Shaltout Syndrome
Ureteral stenosis, Slow-growing hair, Highly arched eyebrow, Low anterior hairline, Horseshoe kid... OMIM:272950
Oculodentodigital Dysplasia
Narrow nasal bridge, Neurogenic bladder, Anteverted nares, Abnormality of the nose, Underdevelope... ORPHA:2710
Alagille Syndrome 1
Duplicated collecting system, Frontal bossing, Hypertriglyceridemia, Depressed nasal bridge, Long... OMIM:118450
Ciliary Dyskinesia, Primary, 19
Male infertility, Nasal polyposis, Absent inner and outer dynein arms, Rhinitis, Recurrent sinusitis OMIM:614935
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Ureteropelvic junction obstruction, Hypospadias, Anteverted nares, Urinary in... OMIM:619522
Cranioectodermal Dysplasia 3
Short nail, Broad nail, Stage 5 chronic kidney disease, Fine hair, Nephronophthisis, Sparse hair OMIM:614099
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short nose ORPHA:1389
Acrocallosal Syndrome
Frontal bossing, Hypospadias, Cryptorchidism, Wide nasal bridge, Prominent occiput, Rectovaginal ... OMIM:200990
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Recurrent urinary tract infections, Hypospadias, Abnormali... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Recurrent urinary tract infections, Hypospadias, Abnormali... ORPHA:353277
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Frontal bossing, Depressed nasal bridge, Craniosynostosis, Skull asymmetry, Short nose OMIM:616723
Trichorhinophalangeal Syndrome, Type Iii
Sparse hair, Sparse lateral eyebrow OMIM:190351
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp... OMIM:305100
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Coffin-Siris Syndrome 12
Frontal bossing, Hypospadias, Prominent nasal bridge, Anteverted nares, Depressed nasal bridge, U... OMIM:619325
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Sparse hair, Alopecia, Abnormal fingernail morphology ORPHA:659
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Sparse hair, Hydronephrosis OMIM:302960
Caudal Regression Syndrome
Missing ribs, Cryptorchidism, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, H... ORPHA:3027
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Short nose, Depressed nasal bridge ORPHA:2835
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... OMIM:600740
Aspartylglucosaminuria
Aspartylglucosaminuria, Depressed nasal bridge, Anteverted nares, Vacuolated lymphocytes, Brachyc... OMIM:208400
Fetal Alcohol Syndrome
Short nose, Anteverted nares, Biparietal narrowing ORPHA:1915
Macs Syndrome
Sparse hair, Alopecia, Urethral stenosis, Sparse eyebrow OMIM:613075
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Hypospadias, Anteverted nares, Dolichocephaly, Hydrocephalus, Bulbous nose, Short ... OMIM:619475
Chime Syndrome
Abnormality of the kidney, Depressed nasal ridge, Brachycephaly, Acute leukemia, Hydronephrosis ORPHA:3474
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Cerebellar atrophy, Diabetes mellitus, Pancreatic fibrosis, Brachycephaly, Delayed puberty, Hypot... OMIM:616263
Otopalatodigital Syndrome, Type I
Prominent occiput, Frontal bossing, Short nose, Wide nasal bridge OMIM:311300
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Short nose, Depressed nasal bridge, Broad columella OMIM:617865
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Progressive Non-Infectious Anterior Vertebral Fusion
Brachycephaly, Depressed nasal bridge, Wide nasal bridge ORPHA:2062
Mowat-Wilson Syndrome
Bifid scrotum, Cerebellar vermis hypoplasia, Urinary incontinence, Asplenia, Vesicoureteral reflu... ORPHA:2152
Opsismodysplasia
Frontal bossing, Depressed nasal bridge, Anteverted nares, Renal phosphate wasting, Hypophosphate... OMIM:258480
Scalp-Ear-Nipple Syndrome
Ureteral duplication, Recurrent urinary tract infections, Abnormal fingernail morphology, Abnorma... ORPHA:2036
Distal Deletion 15Q
Decreased serum insulin-like growth factor 1, Multicystic kidney dysplasia, Hypospadias, Flat occ... ORPHA:1596
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse hair, Hypospadias, Hydronephrosis OMIM:616449
Multicentric Osteolysis, Nodulosis, And Arthropathy
Narrow nasal bridge, Frontal bossing, Bulbous nose, Brachycephaly OMIM:259600
Scarf Syndrome
Low anterior hairline, Low posterior hairline, Perineal hypospadias, Hypoplastic nipples, Sparse ... OMIM:312830
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Cryptorchid... OMIM:308205
Achondrogenesis, Type Ii
Frontal bossing, Brachycephaly OMIM:200610
Mucopolysaccharidosis, Type Vii
Heparan sulfate excretion in urine, Splenomegaly, Hydrocephalus, Recurrent upper respiratory trac... OMIM:253220
Mohr Syndrome
Bifid nasal tip, Hydrocephalus, Depressed nasal bridge, Broad nasal tip OMIM:252100
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Abnormality of the kidney... ORPHA:857
Ectodermal Dysplasia-Blindness Syndrome
Sparse hair, Abnormal fingernail morphology, Fine hair ORPHA:1806
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Anteverted nares, Decreased response to growth hormone stimulation test, Central di... ORPHA:293987
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Brachycephaly, Decreased circulating... ORPHA:1572
Proteus Syndrome
Thymus hyperplasia, Anteverted nares, Depressed nasal bridge, Testicular neoplasm, Craniosynostos... ORPHA:744
Focal Dermal Hypoplasia
Narrow nasal bridge, Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/aplasia, Horses... ORPHA:2092
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Sparse hair, Alopecia, Abnormal toenail morphology ORPHA:1005
Bartsocas-Papas Syndrome 1
Absent external genitalia, Bilateral cryptorchidism, Underdeveloped nasal alae, Ectopic kidney, H... OMIM:263650
Wiedemann-Steiner Syndrome
Decreased response to growth hormone stimulation test, Wide nasal bridge, Dolichocephaly, Short n... ORPHA:319182
Yunis-Varon Syndrome
Narrow nasal base, Abnormal parietal bone morphology, Hypospadias, Anteverted nares, Abnormal occ... ORPHA:3472
Cranioectodermal Dysplasia 1
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Retinal dystrophy, Broad distal phalanges of... OMIM:218330
Orofaciodigital Syndrome Type 4
Wide nose, Monorchism, Choanal atresia, Renal agenesis, Renal hypoplasia/aplasia, Primary adrenal... ORPHA:2753
Mucopolysaccharidosis, Type Vi
Depressed nasal bridge, Splenomegaly, Hydrocephalus, Recurrent upper respiratory tract infections... OMIM:253200
Coffin-Lowry Syndrome
Wide nose, Anteverted nares, Thick nasal septum, Uterine prolapse, Short nose, Thick nasal alae, ... OMIM:303600
Robinow Syndrome, Autosomal Dominant 1
Frontal bossing, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Wide nasal bridge, Hyp... OMIM:180700
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Micrognathia, Short metatarsal, Tibial bowing, Femoral bowing, Short ... OMIM:304120
Sting-Associated Vasculopathy, Infantile-Onset
Sparse hair, Nailfold capillary tortuosity, Nail dystrophy, Periungual erythema OMIM:615934
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Spin... ORPHA:500095
Hydrolethalus Syndrome 1
Accessory spleen, Hypospadias, Bifid uterus, Anencephaly, Midline defect of the nose, Severe hydr... OMIM:236680
Wolf-Hirschhorn Syndrome
Accessory spleen, Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalus, Wide nasal brid... OMIM:194190
Sacral Defect With Anterior Meningocele
Myeloschisis, Neurogenic bladder, Hydrocephalus, Myelomeningocele, Meningocele, Dermal sinus trac... OMIM:600145
Basal Cell Nevus Syndrome 1
Frontal bossing, Ovarian fibroma, Spina bifida, Hydrocephalus, Wide nasal bridge, Ovarian carcino... OMIM:109400
Schneckenbecken Dysplasia
Short nose, Midface retrusion OMIM:269250
Papillon-Lefèvre Syndrome
Abnormal fingernail morphology, Nail dystrophy, Abnormality of the nail, Sparse body hair, Genera... ORPHA:678
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Adenoiditis, Heparan sulfate excretion in urine, Splenomegaly, Hydroce... ORPHA:581
Lhermitte-Duclos Disease
Enlarged cerebellum, Hydrocephalus, Neoplasm of the thyroid gland, Ovarian neoplasm ORPHA:65285
Chromosome 16P13.3 Duplication Syndrome
Wide nose, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Bulbous nose, Wide nasal bri... OMIM:613458
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Frontal bossing, Wide nose, Anteverted nares, Thyroid carcinoma, ... ORPHA:109
Mandibuloacral Dysplasia
Sparse hair, Alopecia, Hypoplastic fingernail ORPHA:2457
Dyskeratosis Congenita
Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Abnormal eyelash morpholog... ORPHA:1775
Weill-Marchesani Syndrome 1
Broad skull, Depressed nasal bridge, Brachycephaly OMIM:277600
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hypoplasia of penis, Sparse body hair ORPHA:3068
Ruijs-Aalfs Syndrome
Premature graying of hair, Sparse hair OMIM:616200
Dural Sinus Malformation
Myelopathy, Abnormal cerebellum morphology, Hydrocephalus ORPHA:97339
Saethre-Chotzen Syndrome
Long nose, Parietal foramina, Oxycephaly, Brachycephaly, Plagiocephaly, Skull asymmetry, Lambdoid... OMIM:101400
Marshall Syndrome
Depressed nasal bridge, Anteverted nares, Short nose, Thickened calvaria, Midface retrusion OMIM:154780
Frank-Ter Haar Syndrome
Flat occiput, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Brachycephaly OMIM:249420
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Nail pits, Premature graying of hair, Nail dystrophy, Sparse hair OMIM:127550
Gaucher Disease
Ventriculomegaly, Pancytopenia, Proteinuria, Elevated circulating C-reactive protein concentratio... ORPHA:355
Short Syndrome
Sparse hair, Alopecia ORPHA:3163
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hyperconvex fingernails... ORPHA:1071
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Wide penis, Chiari type I malformation, Ve... ORPHA:3455
Osteogenesis Imperfecta, Type Xi
Brachycephaly OMIM:610968
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... OMIM:268400
Limb Body Wall Complex
Encephalocele, Depressed nasal bridge, Choanal atresia, Abnormality of the kidney, Spina bifida, ... ORPHA:2369
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Cerebellar cyst, Short nasal b... OMIM:253280
Focal Dermal Hypoplasia
Narrow nasal bridge, Ureteral duplication, Cleft ala nasi, Supernumerary nipple, Broad nasal tip,... OMIM:305600
Okamoto Syndrome
Ureteropelvic junction obstruction, Depressed nasal bridge, Anteverted nares, Urinary incontinenc... ORPHA:2729
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Absent eyelashes, Premature graying of hair, Papillary renal cell carcinoma, Spar... ORPHA:363618
Revesz Syndrome
Nail pits, Fine hair, Nail dystrophy, Sparse hair, Ridged fingernail OMIM:268130
Achondrogenesis, Type Ia
Hypoplastic nasal bridge, Turricephaly, Anteverted nares, Depressed nasal bridge, Short nose OMIM:200600
Neurodegeneration With Brain Iron Accumulation 1
Urinary incontinence, Acanthocytosis OMIM:234200
Semilobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Proboscis, Abnormality... ORPHA:220386
Alobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Proboscis, Abnormality... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Proboscis, Abnormality... ORPHA:93926
Lobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Proboscis, Abnormality... ORPHA:93924
Spondylodysplastic Ehlers-Danlos Syndrome
Frontal bossing, Agenesis of pineal gland, Anteverted nares, Depressed nasal bridge, Sagittal cra... ORPHA:536471
Williams Syndrome
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tubulointerstit... ORPHA:904
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Brachytelephalangic Chondrodysplasia Punctata
Broad nasal tip, Depressed nasal ridge, Nasal congestion, Short columella, Short nose, Thick nasa... ORPHA:79345
Split Cord Malformation
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Cervical s... ORPHA:573278
Dend Syndrome
Short nose, Anteverted nares, Elevated hemoglobin A1c ORPHA:79134
Mietens Syndrome
Wide nose, Wide nasal bridge, Short nose ORPHA:2557
Gaucher Disease, Type Iiic
Splenomegaly, Hydrocephalus, Pancytopenia OMIM:231005
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Depressed nasal bridge, Anteverted nares, Short nose ORPHA:314655
Naxos Disease
Subungual hyperkeratosis, Curly hair, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S... OMIM:601214
Goldberg-Shprintzen Syndrome
Highly arched eyebrow, Synophrys, Vesicoureteral reflux, Sparse hair, Thick eyebrow OMIM:609460
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Curly hair, Slow-growing hair, Highly arched eyebrow, Low posterior hairline, Coarse hair, Sparse... OMIM:617506
Hunter-Macdonald Syndrome
Hypospadias, Brachycephaly, Midface retrusion OMIM:611962
Bloom Syndrome
Male infertility, Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Premature... ORPHA:125
Williams-Beuren Syndrome
Nephrocalcinosis, Early onset of sexual maturation, Chiari type I malformation, Vesicoureteral re... OMIM:194050
Agel Amyloidosis
Sparse hair, Stage 5 chronic kidney disease, Nail dystrophy, Proteinuria ORPHA:85448
Isotretinoin-Like Syndrome
Hydrocephalus, Lymphopenia, Anteverted nares, Hypocalcemia ORPHA:2306
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Brittle hair, Hypospadias, Fine hair, Chordee, Sparse hair OMIM:618891
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Short nose, Urinary incontinence, Hypercalcemia ORPHA:476126
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Rectovaginal fistula, Perineal fistula ORPHA:3016
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Duplicated collecting system, Curly hair, Sparse scalp hair, Loose anagen hair, Long eyelashes, S... OMIM:607721
Pmm2-Cdg
Cerebellar vermis hypoplasia, Prominent nose, Elevated circulating thyroid-stimulating hormone co... ORPHA:79318
Tooth Agenesis, Selective, 4
Sparse scalp hair, Sparse eyebrow, Short eyelashes, Dystrophic fingernails, Sparse body hair, Dys... OMIM:150400
Capillary Malformation-Arteriovenous Malformation
Neurogenic bladder, Hydrocephalus, Epistaxis ORPHA:137667
Branchiooculofacial Syndrome
Agenesis of cerebellar vermis, Hypospadias, Depressed nasal bridge, Supernumerary nipple, Broad n... OMIM:113620
Oculodentodigital Dysplasia
Narrow nasal bridge, Neurogenic bladder, Anteverted nares, Underdeveloped nasal alae, Short nose,... OMIM:164200
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly ORPHA:1393
Medulloblastoma
Hydrocephalus, Cerebellar calcifications, Cerebellar cyst ORPHA:616
Autosomal Recessive Malignant Osteopetrosis
Craniosynostosis, Splenomegaly, Hydrocephalus, Hypocalcemia, Chronic rhinitis, Hypophosphatemia, ... ORPHA:667
Sponastrime Dysplasia
Frontal bossing, Aplasia of the nasal bone, Wide nose, Hypospadias, Anteverted nares, Depressed n... ORPHA:93357
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Anteverted nares, Hypospadias, Decreased response to growth hormone stimulation test, Horseshoe k... ORPHA:444077
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:612199
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Frontal bossing, Turricephaly, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, ... OMIM:612474
Weill-Marchesani Syndrome 2
Broad skull, Depressed nasal bridge, Brachycephaly OMIM:608328
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome
Brachycephaly ORPHA:2988
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Frontal bossing, Depressed nasal bridge, Craniosynostosis, Increased size of nasopharyngeal adeno... ORPHA:457395
Van Esch-O'Driscoll Syndrome
Cerebellar atrophy, Depressed nasal bridge, Hypogonadotropic hypogonadism, Short nose, Spina bifi... OMIM:301030
Attenuated Familial Adenomatous Polyposis
Uterine leiomyoma, Multiple renal cysts, Thyroid adenoma ORPHA:220460
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Frontal bossing, Brachycephaly, Supernumerary nipple ORPHA:1236
Cutis Laxa, Autosomal Recessive, Type Iiib
Sparse hair, Fine hair OMIM:614438
Glass Syndrome
Sparse hair, Long eyelashes, Nail dysplasia OMIM:612313
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia, Delayed puberty, Short nose, Convex nasal ridge ORPHA:90154
Acrofrontofacionasal Dysostosis 1
Brachycephaly, Wide nasal bridge OMIM:201180
Nicolaides-Baraitser Syndrome
Narrow nasal bridge, Anteverted nares, Cryptorchidism, Bulbous nose, Wide nasal base, Short nose,... OMIM:601358
Charge Syndrome
Hypoplasia of the ulna, Hypogonadotropic hypogonadism, Down-sloping shoulders, Micrognathia, Abse... OMIM:214800
Neurofibromatosis Type 1
Abnormality of the upper urinary tract, Precocious puberty, Cryptorchidism, Hydrocephalus, Abnorm... ORPHA:636
Peters-Plus Syndrome
Hypoplasia of the vagina, Ureteral duplication, Frontal bossing, Hypospadias, Bilobate gallbladde... OMIM:261540
Kinsship Syndrome
Osteopenia, Pes planus, Coxa valga, Micrognathia, Hip dislocation, Fibular hypoplasia, Polydactyl... OMIM:619297
Bone Marrow Failure Syndrome 3
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Nail dystrophy, Small nail OMIM:617052
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus, Bifid uterus ORPHA:2736
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair ORPHA:50814
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Prominent nasal bridge, Underdeveloped nasal alae, Bulbous nose, Short columella, Short nose ORPHA:364577
Cryptococcosis
Hydrocephalus, Lymphoid leukemia, Prostatitis ORPHA:1546
Peroxisome Biogenesis Disorder 4B
Short nose, Adrenal insufficiency, Ureterocele OMIM:614863
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sparse hair, Synophrys, Toenail dysplasia, Hirsutism OMIM:300966
Turnpenny-Fry Syndrome
Frontal bossing, Cerebellar vermis hypoplasia, Brachycephaly, Plagiocephaly, Prominent nasal tip OMIM:618371
Rothmund-Thomson Syndrome
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Small nail, Nail dysplasia, Sparse hair, Abno... ORPHA:2909
Pallister-Killian Syndrome
Frontal bossing, Small scrotum, Hypospadias, Anteverted nares, Supernumerary nipple, Depressed na... OMIM:601803
Glycogen Storage Disease Of Heart, Lethal Congenital
Hydrocephalus, Enlarged kidney OMIM:261740
Temtamy Preaxial Brachydactyly Syndrome
Short nose ORPHA:363417
Congenital Myopathy 22B, Severe Fetal
Frontal bossing, Short nose, Wide nasal bridge OMIM:620369
Kid Syndrome
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Trichilemmoma, Nail dystrophy, Spar... ORPHA:477
Ablepharon Macrostomia Syndrome
Absent eyebrow, Hypoplasia of penis, Abnormal hair pattern, Absent eyelashes, Fine hair, Sparse h... ORPHA:920
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Prominent nasal tip, Short nose, Brachyturricephaly ORPHA:522077
Arthrogryposis And Ectodermal Dysplasia
Diabetes mellitus, Brachycephaly OMIM:601701
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo... ORPHA:2232
Sturge-Weber Syndrome
Hydrocephalus, Chiari malformation ORPHA:3205
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Coarse hair OMIM:118650
Lysinuric Protein Intolerance
Stage 5 chronic kidney disease, Fine hair, Aminoaciduria, Hyperlysinuria, Sparse hair, Oroticacid... OMIM:222700
Costello Syndrome
Renal insufficiency, Depressed nasal bridge, Anteverted nares, Hydrocephalus, Chiari type I malfo... OMIM:218040
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Sparse hair, Nail dysplasia, Breast hypoplasia, Small nail OMIM:614813
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Short nose, Epistaxis OMIM:277450
Aspartylglucosaminuria
Aspartylglucosaminuria, Splenomegaly, Wide nasal bridge, Macroorchidism, Short nose, Thickened ca... ORPHA:93
Cutis Marmorata Telangiectatica Congenita
Displacement of the urethral meatus, Multicystic kidney dysplasia, Hypothyroidism ORPHA:1556
Joubert Syndrome 8
Molar tooth sign on MRI, Occipital encephalocele OMIM:612291
Mucolipidosis Ii Alpha/Beta
Brittle hair, Sparse eyebrow, Mucopolysacchariduria, Sparse hair, Enlarged kidney OMIM:252500
Craniofacial-Deafness-Hand Syndrome
Short nose, Depressed nasal bridge, Narrow naris OMIM:122880
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Sparse hair OMIM:615349
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus ORPHA:220295
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Absent eyebrow, Alopecia, Thin fingernail, Hydroureter, Abnormality of the kidney, Abnormality of... ORPHA:2273
Monosomy 22
Sparse hair, Synophrys, Micropenis ORPHA:96123
Ectodermal Dysplasia And Immunodeficiency 1
Sparse hair, Aplasia of the eccrine sweat glands OMIM:300291
Intellectual Developmental Disorder, Autosomal Dominant 54
Sparse hair, Urinary retention, Thin nail OMIM:617799
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair OMIM:607812
Fetal Akinesia Deformation Sequence 1
Cryptorchidism, Hydrocephalus, Cerebellar hypoplasia, Depressed nasal tip OMIM:208150
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Anteverted nares, Choanal atresia, Short nose, Midface retrusion, Narrow nose, Semilobar holopros... OMIM:301044
Cerebrocostomandibular Syndrome
Horseshoe kidney, Renal cyst, Ectopic kidney OMIM:117650
Full Nf2-Related Schwannomatosis
Myelopathy, Abnormal cerebellum morphology, Hydrocephalus, Brain stem compression ORPHA:637
Normosmic Congenital Hypogonadotropic Hypogonadism
Micropenis, Sparse body hair, Breast hypoplasia ORPHA:432
Craniofacial Microsomia 1
Occipital encephalocele, Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Hydrocepha... OMIM:164210
Rothmund-Thomson Syndrome Type 1
Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of ... ORPHA:221008
Arterial Tortuosity Syndrome
Short nose, Craniosynostosis ORPHA:3342
Menke-Hennekam Syndrome 1
Narrow nasal bridge, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Cryptor... OMIM:618332
Acromesomelic Dysplasia 1
Frontal bossing, Short nose OMIM:602875
Menkes Disease
Sparse hair, Woolly hair, Hypopigmentation of hair, Bladder diverticulum ORPHA:565
Cockayne Syndrome B
Renal insufficiency, Dry hair, Proteinuria, Abnormal hair morphology, Sparse hair, Micropenis OMIM:133540
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Alopecia, Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Loss of... ORPHA:2636
Aprosencephaly And Cerebellar Dysgenesis
Craniosynostosis, Poorly formed metencephalon, Aprosencephaly, Absent mesencephalon, Cerebellar d... OMIM:601374
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypospadias, Sparse axillary hair, Sparse pubic hair, Enlarged polycystic ovaries, Polycystic ova... ORPHA:90796
Down Syndrome
Brachycephaly, Hypothyroidism, Myeloproliferative disorder, Acute megakaryocytic leukemia OMIM:190685
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Sparse hair OMIM:615508
Rothmund-Thomson Syndrome Type 2
Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of ... ORPHA:221016
Woodhouse-Sakati Syndrome
Sparse hair, Alopecia, Micropenis, Fine hair OMIM:241080
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Aplasia/Hypop... ORPHA:1112
Viss Syndrome
Frontal bossing, Depressed nasal bridge, Prominent nasal bridge, Increased circulating IgE level,... OMIM:619472
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Sparse hair, Fine hair, Highly arched eyebrow, Low posterior hairline OMIM:613563
Combined Immunodeficiency-Enteropathy Spectrum
Sparse hair, Absent eyebrow, Alopecia of scalp, Nail dystrophy ORPHA:436252
Ectodermal Dysplasia-Skin Fragility Syndrome
Sparse hair, Urethral stricture, Nail dystrophy, Alopecia universalis ORPHA:158668
Ectodermal Dysplasia And Immunodeficiency 2
Sparse hair, Aplasia of the sweat glands, Sparse scalp hair OMIM:612132
Intellectual Developmental Disorder, Autosomal Dominant 68
Sparse hair, Urinary incontinence OMIM:619934
Lenz-Majewski Hyperostotic Dwarfism
Sparse hair, Chordee, Hypospadias OMIM:151050
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Sparse hair, Renal hypoplasia OMIM:620005
Atypical Werner Syndrome
Abnormal hair quantity, Renal neoplasm, Alopecia, Abnormal hair morphology, Abnormal hair whorl, ... ORPHA:79474
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Frontal bossing, Depressed nasal bridge, Depressed nasal ridge, Concave nasal ridge, Midface retr... OMIM:271665
Blomstrand Lethal Chondrodysplasia
Depressed nasal bridge, Anteverted nares, Short nose ORPHA:50945
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydrocephalus, Abnormal renal morphology, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:363700
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Sparse eyebrow, Hypoplastic nipples, Small nail, Nail dystrophy, Sparse hair OMIM:620186
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Polyuria, Narrow nasal ridge, Type I diabetes mellitus, Hypercholesterolemi... OMIM:606721
Loeys-Dietz Syndrome 1
Hydrocephalus, Chiari malformation, Craniosynostosis OMIM:609192
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Absent eyelashes, Hypoplastic nipples, Sparse hair, Micropenis, Hypoplastic finge... OMIM:200110
Restrictive Dermopathy
Ureteral duplication, Hypospadias, Short nail, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine... ORPHA:1662
Stickler Syndrome
Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, Short nose, Midface retrusion ORPHA:828
Myhre Syndrome
Sparse hair, Thick eyebrow, Fine hair OMIM:139210
Noonan Syndrome 1
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias... OMIM:163950
Cystic Fibrosis
Male infertility, Nasal polyposis, Hypercalciuria, Hepatosplenomegaly OMIM:219700
Geleophysic Dysplasia 1
Short nose, Anteverted nares OMIM:231050
Geleophysic Dysplasia 2
Short nose OMIM:614185
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Sparse hair, Proteinuria, Nail dysplasia OMIM:616682
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebellar atrophy, Hemolytic anemia, Hydrocephalus, Elevated circulating creatine kinase concent... OMIM:175780
Trichorhinophalangeal Syndrome, Type Ii
Sparse scalp hair, Thick eyebrow, Vesicoureteral reflux, Sparse hair, Alopecia of scalp, Fragile ... OMIM:150230
1P21.3 Microdeletion Syndrome
Short nose, Broad nasal tip ORPHA:293948
Leprosy
Absent eyebrow, Alopecia, Loss of eyelashes, Sparse body hair ORPHA:548
Loeys-Dietz Syndrome 2
Hydrocephalus, Chiari malformation, Craniosynostosis OMIM:610168
Wrinkly Skin Syndrome
Sparse hair, Short nail, Fragile nails OMIM:278250
Wrinkly Skin Syndrome
Sparse hair ORPHA:2834
Amyotrophic Lateral Sclerosis
Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigable we... ORPHA:803
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
OMIM:617892

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Nek1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Nek1.

No publications found that use IMPC mice or data for Nek1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Nek1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Nek1em1(IMPC)Bay Exon Deletion Mice

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