Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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

Eye Morphology

VIP of left eye

14 Images

Eye Morphology

VIP of left fundus

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

Eye Morphology

VIP of right eye

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

X-ray

XRay Images Forepaw

8 Images

Eye Morphology

VIP of right fundus

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

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