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
short tibia Nek1em1(IMPC)Bay HOM   Early adult 0.00
abnormal bone structure Nek1em1(IMPC)Bay HOM Early adult 6.98×10-34
decreased prepulse inhibition Nek1em1(IMPC)Bay HOM   Early adult 1.81×10-07
decreased cardiac stroke volume Nek1em1(IMPC)Bay HOM Early adult 2.31×10-06
abnormal pelvic girdle bone morphology Nek1em1(IMPC)Bay HOM Early adult 2.94×10-05
decreased body length Nek1em1(IMPC)Bay HOM Early adult 5.35×10-29
abnormal retinal outer nuclear layer morphology Nek1em1(IMPC)Bay HOM Early adult 0.00
decreased grip strength Nek1em1(IMPC)Bay HOM Early adult 3.14×10-05
decreased bone mineral content Nek1em1(IMPC)Bay HOM Early adult 1.77×10-19
preweaning lethality, incomplete penetrance Nek1em1(IMPC)Bay HOM   Early adult 0.00
abnormal cranium morphology Nek1em1(IMPC)Bay HOM   Early adult 2.69×10-07
decreased total retina thickness Nek1em1(IMPC)Bay HOM Early adult 1.25×10-29

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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 Dorso Ventral Orientation

8 Images

Eye Morphology

VIP of left eye

14 Images

Eye Morphology

VIP of right fundus

14 Images

X-ray

XRay Images Forepaw

8 Images

Eye Morphology

VIP of left fundus

14 Images

Eye Morphology

VIP of right eye

14 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

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
Brachycephaly, Pachygyria, Micropenis, Polycystic kidney dysplasia, Cerebellar vermis hypoplasia,... OMIM:263520
Orofaciodigital Syndrome Type 2
Micrognathia, Complete duplication of hallux phalanx, Mesomelic leg shortening, Polysyndactyly of... ORPHA:2751
Amyotrophic Lateral Sclerosis
Fatigable weakness of bulbar muscles, Fatigable weakness of respiratory muscles, Fatigable weakne... ORPHA:803
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Hippocampal atrophy 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 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Hypotrichosis 1
Sparse eyelashes, Sparse eyebrow, Sparse pubic hair, Sparse axillary hair, Sparse hair, Sparse bo... OMIM:605389
Polyrrhinia
Abnormal third ventricle morphology, Abnormal nasal bone morphology, Supernumerary naris, Dilatio... ORPHA:141091
Dandy-Walker Syndrome
Partial absence of cerebellar vermis, Agenesis of cerebellar vermis, Dilated fourth ventricle, Po... OMIM:220200
Holoprosencephaly 5
Depressed nasal bridge, Lobar holoprosencephaly, Trigonocephaly, Holoprosencephaly, Syntelencepha... OMIM:609637
Hypotrichosis Simplex
Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ... ORPHA:55654
Hypotrichosis 4
Sparse eyelashes, Alopecia, Pili torti, Sparse and thin eyebrow, Sparse hair, Sparse body hair OMIM:146550
Intellectual Developmental Disorder, X-Linked 103
Anteverted nares, Dilation of lateral ventricles, Micropenis, Polymicrogyria OMIM:300982
Mental Retardation, Autosomal Dominant 48
Hypospadias, Dysgenesis of the cerebellar vermis, Dilated fourth ventricle, Cerebellar dysplasia,... OMIM:617751
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Pachygyria, Renal cyst, Wide nasal bridge OMIM:614870
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Cerebellar atrophy, Schizencephaly, Hypoplasia of the pons, Dysgenesi... ORPHA:300573
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dandy-Walker malformation, Flat occiput, Brachycephaly, Delayed closure of the anterior fontanell... OMIM:618736
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Dandy-Walker Malformation With Postaxial Polydactyly
Dandy-Walker malformation, Depressed nasal bridge, Partial absence of cerebellar vermis, Agenesis... OMIM:220220
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Polymicrogyria, Hydrocephalus, Megalencephaly, Ventriculomegaly OMIM:615938
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Neonatal death, Lytic defects of humeral diaphy... OMIM:601376
Gómez-López-Hernández Syndrome
Brachycephaly, Abnormal brainstem morphology, Cerebellar vermis hypoplasia, Hydrocephalus, Turric... ORPHA:1532
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Subcortical cerebral atrophy, Hydrocephalus, Cerebellar hypoplasia, Cerebral cortical hemiatrophy... ORPHA:2703
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Hypotrichosis 11
Alopecia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Absent axil... OMIM:615059
Megalencephaly, Autosomal Dominant
Hydrocephalus, Megalencephaly OMIM:155350
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short 4th metacarpal, Epiphyseal stippling, Limb undergrowth, Short 2nd met... OMIM:118651
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Dilated third ventricle, Hypospadias, Colpocephaly, Renal dysplasia, Cerebellar hypoplasia, Abnor... ORPHA:397715
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Unilateral Hemispheric Polymicrogyria
Dilation of lateral ventricles, Thick cerebral cortex, Cortical dysplasia, Cerebral hypoplasia ORPHA:101071
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormality of the metaphysis, Coarse metaphyseal trabecularization, Abnorma... ORPHA:2779
Witkop Syndrome
Fine hair, Small nail, Ridged nail, Concave nail, Sparse hair, Nail pits OMIM:189500
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Aplasia/Hypoplasia of metatarsal bones,... OMIM:200700
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Martsolf Syndrome 2
Broad nasal tip, Hypogonadotropic hypogonadism, Dilation of lateral ventricles, Hypoplasia of the... OMIM:619420
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hemimegalencephaly, Ventriculomegaly, Hydrocephalus, Polymicrogyria, Hypoplasia of the corpus cal... OMIM:615937
Mpdu1-Cdg
Renal cortical cysts, Ventriculomegaly, Wide anterior fontanel, Decreased response to growth horm... ORPHA:79323
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Cach Syndrome
Renal hypoplasia, Secondary amenorrhea, Cerebellar atrophy, Abnormal pons morphology, Nonketotic ... ORPHA:135
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Hydrocephalus, Agenesis of corpus callosum, Aplasia/Hypoplasia of... OMIM:300864
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dandy-Walker malformation, Frontal bossing, Orbital craniosynostosis, Hydrocephalus, Cerebellar h... ORPHA:1538
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Dilation of lateral ventricles, Diffuse cerebral atrophy ORPHA:363654
Hypotrichosis 14
Sparse hair, Sparse body hair OMIM:618275
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Cerebellar dysplasia, Ventri... OMIM:604213
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Hypotrichosis 13
Sparse and thin eyebrow, Sparse hair, Woolly hair OMIM:615896
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Adenylosuccinate Lyase Deficiency
Flat occiput, Hypointensity of cerebral white matter on MRI, Brachycephaly, Short nose, Anteverte... ORPHA:46
Severe X-Linked Intellectual Disability, Gustavson Type
Dandy-Walker malformation, Large fontanelles, Dilated fourth ventricle, Short nose, Small fontane... ORPHA:3078
16P13.2 Microdeletion Syndrome
Dilated third ventricle, Plagiocephaly, Brachycephaly, Cerebral white matter atrophy, Ventriculom... ORPHA:500055
Hypotrichosis 7
Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Woolly hair OMIM:604379
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619528
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Azoospermia, Anemia, Splenomegaly, Hypogonadism, Increased circulating ferritin conc... OMIM:615234
Odonto-Onycho Dysplasia-Alopecia Syndrome
Sparse and thin eyebrow, Alopecia, Hypoplastic toenails, Abnormal fingernail morphology, Sparse h... ORPHA:2722
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Horseshoe kidney, Brachyturricephaly, Abnormal shape of the occiput, Brachycephaly, ... OMIM:218350
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... ORPHA:93405
Ventriculomegaly With Defects Of The Radius And Kidney
Horseshoe kidney, Ureteral duplication, Renal agenesis, Ectopic kidney, Ventriculomegaly, Hydroce... OMIM:602200
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Plagiocephaly, Brachycephaly, Short nose, Wide nasal bridge, Unilambdoid synostosis, Ventriculome... OMIM:618577
Acromesomelic Dysplasia 2C
Radial bowing, Shortening of all proximal phalanges of the fingers, Distal femoral bowing, Fibula... OMIM:201250
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Hypotrichosis 10
Sparse eyelashes, Sparse eyebrow, Sparse body hair OMIM:614238
Femoral-Facial Syndrome
Maternal diabetes, Long penis, Abnormal localization of kidney, Short nose, Ventriculomegaly, Ren... ORPHA:1988
Pyruvate Dehydrogenase E1-Alpha Deficiency
Partial agenesis of the corpus callosum, Basal ganglia necrosis, Cerebellar cyst, Abnormality of ... ORPHA:79243
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Renal hypoplasia, Renal agenesis, Depressed nasal bridge, Chiari malformation, Large... ORPHA:171839
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Alg2-Cdg
Wide nasal bridge, Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Hyperintens... ORPHA:79326
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dilated third ventricle, Partial agenesis of the corpus callosum, Plagiocephaly, Brachycephaly, F... OMIM:617296
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Atrophy/Degeneration affecting the brainstem, Cerebellar vermis atrophy... ORPHA:77299
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia OMIM:619145
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Dandy-Walker malformation, Hydronephrosis, Anencephaly, Elevated circulating creatine kinase conc... OMIM:615287
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Alopecia, Sparse hair, Dystrophic toenail OMIM:614928
Orofaciodigital Syndrome Xv
Hydronephrosis, Wide nasal bridge, Ventriculomegaly, Molar tooth sign on MRI, Anteverted nares, A... OMIM:617127
Congenital Disorder Of Glycosylation, Type Il
Cerebellar atrophy, Depressed nasal bridge, Brachycephaly, Short nose, Frontal bossing, Polycysti... OMIM:608776
Mosaic Trisomy 1
Renal cortical cysts, Small anterior fontanelle, Depressed nasal bridge, Renal cyst, Wide nasal b... ORPHA:1692
17P13.3 Microduplication Syndrome
Hypoplasia of penis, Wide nose, Short nose, Ventriculomegaly, Frontal bossing, Hypoplasia of the ... ORPHA:217385
Osebold-Remondini Syndrome
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Hypoplasia of the radius, Dysplas... OMIM:112910
D-2-Hydroxyglutaric Aciduria 1
Multifocal cerebral white matter abnormalities, Glutaric aciduria, Subependymal cysts, Frontal bo... OMIM:600721
Malan Overgrowth Syndrome
Plagiocephaly, Depressed nasal bridge, Ventriculomegaly, Frontal bossing, Scaphocephaly, Hypoplas... ORPHA:420179
Hypotonia, Infantile, With Psychomotor Retardation
Dilation of lateral ventricles, Cryptorchidism, Hypoplasia of the corpus callosum OMIM:616816
Congenital Hydrocephalus
Abnormal cortical gyration, Small cerebral cortex, Colpocephaly, Ventriculomegaly, Frontal bossin... ORPHA:2185
Hydrocephalus With Cerebellar Agenesis
Cerebellar agenesis, Hydrocephalus OMIM:307010
Chromosome 3Q13.31 Deletion Syndrome
Plagiocephaly, Brachycephaly, Ventriculomegaly, Micropenis, Cryptorchidism, Alobar holoprosenceph... OMIM:615433
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Ectodermal Dysplasia 9, Hair/Nail Type
Absent hair, Nail dystrophy, Atrichia, Absent eyelashes, Nail dysplasia, Concave nail, Sparse hair OMIM:614931
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney, Hypogonadism OMIM:615987
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cystic renal dysplasia, Ventriculomegaly, Cerebellar hypoplasia, Ectopic kidney, Secondary microc... OMIM:613730
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia ORPHA:1646
Glutamine Deficiency, Congenital
Depressed nasal bridge, Subependymal cysts, Short nose, Wide nasal bridge, Decreased CSF glutamin... OMIM:610015
Alopecia, Congenital
Alopecia, Sparse hair OMIM:300042
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal corpus callosum morphology, Ventriculomegaly, Hydrocephalus, Cortical dysplasia, Microce... OMIM:618709
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cerebral white matter hypoplasia, Depressed nasal bridge, Craniosynostosis, Simplified gyral patt... ORPHA:284417
Hydrocephalus, Autosomal Dominant
Dandy-Walker malformation, Cerebellar vermis hypoplasia, Sagittal craniosynostosis, Hydrocephalus OMIM:123155
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... ORPHA:2098
Slc35A2-Cdg
Dandy-Walker malformation, Abnormal midbrain morphology, Increased circulating thyroglobulin leve... ORPHA:356961
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Non-Distal Trisomy 10Q
Convex nasal ridge, Depressed nasal bridge, Brachycephaly, Abnormality of the urinary system, Sho... ORPHA:1695
Warburg Micro Syndrome 3
Hypoplastic labia minora, Brachycephaly, Short nose, Ventriculomegaly, Micropenis, Polymicrogyria... OMIM:614222
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Renal cortical cysts, Periventricular cysts, Abnormal cerebral white matter morphology, Cerebral ... OMIM:617668
Beemer Lethal Malformation Syndrome
Thrombocytopenia, Hydrocephalus, Wide nasal bridge OMIM:209970
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Hypoplastic hippocampus, Thin corpus callosum, Reduced a... OMIM:619517
Band Heterotopia
Subcortical band heterotopia, Ventriculomegaly, Hydrocephalus, Polymicrogyria, Agenesis of corpus... OMIM:600348
Meckel Syndrome 13
Polycystic kidney dysplasia, Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:617562
Bardet-Biedl Syndrome 16
Renal agenesis, Renal dysplasia, External genital hypoplasia, Renal cyst, Hypogonadism, Renal ins... OMIM:615993
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Polycystic kidney dysplasia, Stage 5 chronic kidney disease OMIM:617610
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Abnormality of ... ORPHA:1802
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Potocki-Shaffer Syndrome
Underdeveloped nasal alae, Broad nasal tip, Brachycephaly, Anemia, Prominent nasal bridge, Pariet... ORPHA:52022
Hemiparkinsonism-Hemiatrophy Syndrome
Dilation of lateral ventricles, Cerebral cortical hemiatrophy ORPHA:306669
Eiken Syndrome
Abnormal acetabulum morphology, Thin bony cortex, Narrow pelvis bone, Metaphyseal irregularity, E... ORPHA:79106
Hidrotic Ectodermal Dysplasia
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Nail dystrophy, A... ORPHA:189
Lethal Faciocardiomelic Dysplasia
Radial club hand, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sandal gap, Sho... ORPHA:1972
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Brachycephaly, Trigonocephaly, Bifid nose, Bulbous nose, Prominent metopic ridge, Bifid nasal tip OMIM:275595
Congenital Muscular Dystrophy With Cerebellar Involvement
Cerebellar cyst, Diffuse white matter abnormalities, Agenesis of corpus callosum, Dilated fourth ... ORPHA:370959
Woolly Hair, Autosomal Recessive 3
Fine hair, Sparse eyelashes, Trichorrhexis nodosa, Curly hair, Sparse scalp hair, Sparse hair OMIM:616760
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormality of pelvic girdle bone morphology, Short toe, Abnormality of long bone morphology, Sho... OMIM:259270
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia, Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Graham Little-Piccardi-Lassueur Syndrome
Sparse axillary hair, Alopecia, Sparse scalp hair, Sparse pubic hair ORPHA:505
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Short nose, Ventriculomegaly, Abnormal cerebral white matter morphology, ... OMIM:613443
Trichodysplasia-Xeroderma
Sparse eyelashes, Dry hair, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Sparse pubic ... OMIM:190360
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Decreased plasma free carnitine, Tubulointerstitial nephritis, Hyperlipidemia, Red-brown urine, H... ORPHA:228308
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Renal cortical cysts, Generalized aminoaciduria, Depressed nasal bridge, P... OMIM:231680
Peho-Like Syndrome
Cerebellar atrophy, Short nose, Ventriculomegaly, Pachygyria, Progressive microcephaly, Hypoplasi... OMIM:617507
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Developmental And Epileptic Encephalopathy 49
Dandy-Walker malformation, Prominent nose, Ventriculomegaly, Frontal bossing, Hydrocephalus, Cere... OMIM:617281
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Choroid plexus cyst, Prominent nose, Prominent nasal tip, Abnormal caudate nucleus morphology, Ab... ORPHA:293725
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Pili torti, Reduced terminal:vellus ratio, Sparse hair OMIM:601553
Warburg Micro Syndrome 4
Perisylvian polymicrogyria, Cerebellar atrophy, Brachycephaly, Prominent nasal bridge, Micropenis... OMIM:615663
Leri-Weill Dyschondrosteosis
Tibial bowing, Radial bowing, Abnormal metatarsal morphology, Fibular hypoplasia, Dorsal subluxat... OMIM:127300
Crouzon Syndrome With Acanthosis Nigricans
Brachycephaly, Craniosynostosis, Hydrocephalus, Midface retrusion, Choanal atresia OMIM:612247
Cerebellar Ataxia And Ectodermal Dysplasia
Alopecia, Sparse hair OMIM:212835
Alg13-Cdg
Anteverted nares, Abnormal lateral ventricle morphology ORPHA:324422
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse eyelashes, Abnormal hair morphology, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sp... ORPHA:1808
Poretti-Boltshauser Syndrome
Cerebellar cyst, Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Ab... OMIM:615960
Pontocerebellar Hypoplasia, Type 13
Dandy-Walker malformation, Hypoplasia of the pons, Cerebellar vermis hypoplasia, Hypoplastic hipp... OMIM:618606
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Decreased plasma free carnit... ORPHA:157
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal cerebral white matter abnormalities, Dysplastic corpus callosum, Tubulointerstitial ne... ORPHA:488627
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Alopecia, Sparse hair OMIM:203600
Cornelia De Lange Syndrome 5
Broad nasal tip, Depressed nasal bridge, Brachycephaly, Prominent nasal bridge, Ventriculomegaly,... OMIM:300882
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Absent septum pellucidum, Hydrocephalus, Agenesis of corpus callosum, Aqueduct... ORPHA:2182
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Choroid plexus cyst, Decreased calvarial ossification, Ventriculomegaly, Polycystic kidney dyspla... OMIM:617866
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Brachyturricephaly, Hydronephrosis, Flat occiput, Elevated circulating long chain fa... OMIM:214100
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Hydronephrosis, Decreased plasma free carnitine, Elevated circulating long ... OMIM:608836
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Dilated fourth ventricle, Cerebellar vermis atrophy, Increased CSF lactate OMIM:619054
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Renal cortical cysts, Plagiocephaly, Broad nasal tip, Ventriculomegaly, Wide anterior fontanel, V... OMIM:618548
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Dilated third ventricle, Hydronephrosis, Prominent nasal tip, Male urethral meatus s... ORPHA:464738
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Microcephaly OMIM:618890
Alexander Disease
Hydrocephalus, Increased CSF protein OMIM:203450
C Syndrome
Renal cortical cysts, Trigonocephaly, Short nose, Wide nasal bridge, Clitoral hypertrophy, Anteve... OMIM:211750
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Depressed nasal bridge, Wide nose, Cerebellar hypoplasia, Abnormal lateral ve... ORPHA:488635
Developmental And Epileptic Encephalopathy 36
Anteverted nares, Hydrocephalus, Microcephaly, Cerebral atrophy OMIM:300884
Langer Mesomelic Dysplasia
Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u... OMIM:249700
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum, Aqueductal stenosis OMIM:307000
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Wide nasal bridge OMIM:614859
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dilated third ventricle, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum... ORPHA:544488
Nephronophthisis 20
Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dandy-Walker malformation, Agenesis of cerebellar vermis, Abnormal cerebral cortex morphology, Sh... ORPHA:163961
Acromelic Frontonasal Dysostosis
Choroid plexus cyst, Broad nasal tip, Brachycephaly, Wide nasal bridge, Bifid nose, Ventriculomeg... OMIM:603671
Corpus Callosum Agenesis-Neuronopathy Syndrome
Craniosynostosis, Turricephaly, Agenesis of corpus callosum, Microcephaly, Aqueductal stenosis ORPHA:1496
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Trisomy 17P
Urethral valve, Hydronephrosis, Prominent nose, Urethral stenosis, Wide nose, Polycystic kidney d... ORPHA:261290
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Cerebral calcification ORPHA:99966
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Trichodysplasia-Xeroderma Syndrome
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, S... ORPHA:3361
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia, Cerebellar vermis hypoplasia OMIM:614844
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Dystrophic toenail, Alopecia, Onychogryposis of toenails, Sparse body hair OMIM:617294
Peroxisome Biogenesis Disorder 5A (Zellweger)
Large fontanelles, Renal cyst, Splenomegaly, Clitoral hypertrophy, Macrogyria, Hepatosplenomegaly... OMIM:614866
X-Linked Intellectual Disability, Wilson Type
Hydrocele testis, Dilation of lateral ventricles, Microcephaly, Brachycephaly ORPHA:85290
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Broad nasal tip, Brachycephaly, Ventriculomegaly, Cerebellar vermis hypoplasia, H... OMIM:609757
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Cerebral atrophy, Cerebral calcification, Glomerular sclerosis, Stage 5 chronic... OMIM:619487
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Dilated third ventricle, Cerebellar atrophy, Abnormality of the cerebrospinal fluid, Atrophy/Dege... ORPHA:314404
Cog5-Cdg
Prominent nose, Cerebellar atrophy, Cerebral white matter atrophy, Atrophy/Degeneration affecting... ORPHA:263487
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Hydranencephaly, Renal dysplasia, Renal cyst, Narrow nasal ridge, Ureteral agen... OMIM:236500
Potocki-Shaffer Syndrome
Underdeveloped nasal alae, Brachycephaly, Short nose, Wormian bones, Wide nasal bridge, Parietal ... OMIM:601224
Distal Monosomy 10Q
Horseshoe kidney, Prominent nose, Brachycephaly, Prominent metopic ridge, Craniosynostosis, Short... ORPHA:96148
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Short ribs, Reduced bone mineral density, Syndactyly, Abnormal foot bo... ORPHA:1505
Craniosynostosis 6
Dandy-Walker malformation, Plagiocephaly, Cerebellar atrophy, Brachycephaly, Craniosynostosis, Ab... OMIM:616602
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Dilated fourth ventricle, Cerebellar dysplasia, Inferior vermis hypoplasia, Abno... ORPHA:370022
Arima Syndrome
Renal tubular atrophy, Occipital meningocele, Brainstem dysplasia, Agenesis of cerebellar vermis,... OMIM:243910
Pfeiffer Syndrome Type 3
Horseshoe kidney, Hydronephrosis, Chiari malformation, Brachyturricephaly, Depressed nasal bridge... ORPHA:93260
Autosomal Recessive Cutis Laxa Type 2A
Dandy-Walker malformation, Dysplastic corpus callosum, Dilated fourth ventricle, Prominent nasal ... ORPHA:357058
Bardet-Biedl Syndrome 6
Hypospadias, External genital hypoplasia, Renal cyst, Diabetes mellitus OMIM:605231
Achondroplasia
Depressed nasal bridge, Megalencephaly, Frontal bossing, Hydrocephalus, Brain stem compression, M... OMIM:100800
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dysgenesis of the hippocampus, Polymicrogyria, Cerebellar hypoplasia, Abnormality of thalamus mor... ORPHA:300570
Gillessen-Kaesbach-Nishimura Syndrome
Underdeveloped nasal alae, Convex nasal ridge, Brachycephaly, Bicornuate uterus, Polycystic kidne... OMIM:263210
Pontocerebellar Hypoplasia, Type 3
Cerebellar atrophy, Depressed nasal bridge, Brachycephaly, Hypoplasia of the pons, Progressive mi... OMIM:608027
Recombinant Chromosome 8 Syndrome
Hydronephrosis, Depressed nasal bridge, Brachycephaly, Ventriculomegaly, Cryptorchidism, Cerebral... OMIM:179613
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Pfeiffer Syndrome Type 1
Depressed nasal bridge, Brachycephaly, Short nose, Midface retrusion, Bicoronal synostosis, Aqued... ORPHA:93258
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Brachycephaly, Wide nasal bridge, Ventriculomegaly, Bulbous nose, Anteverted nares, Hypoplasia of... OMIM:300958
Congenital Muscular Dystrophy, Fukuyama Type
Plagiocephaly, Brachycephaly, Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Hydroc... ORPHA:272
Pineocytoma
Hydrocephalus, Increased CSF protein ORPHA:251912
Pierpont Syndrome
Abnormal cortical gyration, Chiari malformation, Brachycephaly, Wide nasal ridge, Primary microce... ORPHA:487825
Combined Oxidative Phosphorylation Defect Type 39
Deep white matter hypodensities, Atrophy/Degeneration affecting the brainstem, Abnormal corpus ca... ORPHA:565624
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Partial agenesis of the corpus callosum, Anemia, Simplified gyral pattern, H... OMIM:619302
Ectodermal Dysplasia 4, Hair/Nail Type
Onycholysis, Temporal hypotrichosis, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Na... OMIM:602032
Chromosome 2P16.1-P15 Deletion Syndrome
Prominent nasal tip, Hydronephrosis, Depressed nasal bridge, Brachycephaly, Hypoplasia of the pon... OMIM:612513
Autosomal Dominant Non-Syndromic Intellectual Disability
Cerebral atrophy, Leukoencephalopathy, Abnormal cerebral white matter morphology, Bilateral gener... ORPHA:178469
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter, Short nose, Frontal bossing, Anteverted nares ORPHA:1450
Acheiropody
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... OMIM:200500
Spinocerebellar Ataxia, Autosomal Recessive 13
Dilated fourth ventricle, Cerebellar atrophy, Inferior vermis hypoplasia, Retrocerebellar cyst OMIM:614831
Myopathy, Congenital, Bailey-Bloch
Brachycephaly, Ventriculomegaly, Midface retrusion, Cryptorchidism, Microcephaly OMIM:255995
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Depressed nasal bridge, Megalencephaly, Abnormal localization of kidney, Polymicrogyria, Hydrocep... ORPHA:83473
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Pseudoarthrosis, Hypoplasia of the radius, Short tibia OMIM:156230
Arnold-Chiari Malformation Type Ii
Meningocele, Partial agenesis of the corpus callosum, Abnormality of the medulla oblongata, Myelo... ORPHA:1136
Mosaic Variegated Aneuploidy Syndrome 1
Hypospadias, Bifid scrotum, Leukemia, Short nose, Micropenis, Hydrocephalus, Cerebellar hypoplasi... OMIM:257300
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Dandy-Walker malformation, Adrenocortical carcinoma, Adrenocortical cytomeg... OMIM:130650
Meckel Syndrome, Type 10
Hypospadias, Anencephaly, Renal cyst, Frontal bossing, Micropenis, Molar tooth sign on MRI OMIM:614175
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Plagiocephaly, Abnormal globus pallidus morphology, Brachycephaly, Ventriculomegaly, Hypoplasia o... OMIM:618603
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Cryptorchidism, Macrothrombocytopenia, Anemia o... ORPHA:67044
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia OMIM:246570
Joubert Syndrome 16
Dandy-Walker malformation, Nephronophthisis, Molar tooth sign on MRI, Renal cyst OMIM:614465
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Metopic synostosis, Trigonocephaly, Craniosynostosis, Wide nasal bridge, Ventriculom... OMIM:175700
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Hip dislocation, Talipes equin... OMIM:605274
Distal Tetrasomy 15Q
Dandy-Walker malformation, Horseshoe kidney, Hydronephrosis, Abnormal external genitalia, Cranios... ORPHA:314588
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creati... OMIM:602088
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Hypoplastic hippocampus, Dilation of lateral ventricles, Hypo... ORPHA:208447
Aicardi-Goutieres Syndrome 4
Cerebellar atrophy, Convex nasal ridge, CSF lymphocytic pleiocytosis, Ventriculomegaly, Splenomeg... OMIM:610333
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ... OMIM:617805
Paganini-Miozzo Syndrome
Dilation of lateral ventricles, Urinary incontinence OMIM:301025
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Dandy-Walker malformation, Partial absence of cerebellar vermis, Agenesis of cerebellar vermis, D... OMIM:220219
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Contracture of the proxima... OMIM:601559
Hypotrichosis 8
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... OMIM:278150
Joubert Syndrome 2
Brainstem dysplasia, Dysgenesis of the cerebellar vermis, Depressed nasal bridge, Agenesis of cer... OMIM:608091
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Cerebral white matter hypoplasia, Thrombocytopenia, Dilated fourth ventricle,... ORPHA:572798
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Dandy-Walker malformation, Tubulointerstitial nephritis, Depressed nasal bridge, Brachycephaly, A... ORPHA:459061
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Dilated third ventricle, Depressed nasal bridge, Renal tubular acidosis, Hydrocephalus, Dilation ... OMIM:619575
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse eyelashes, Dystrophic fingernails, Onycholysis, Dystrophic toenail, Brittle hair, Alopecia... OMIM:614929
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Underdeveloped nasal alae, Short nose, Renal cyst, Ventriculomegaly, Multicystic kid... ORPHA:2031
Microcephaly-Microcornea Syndrome, Seemanova Type
Hypogonadism, Microcephaly, Brachycephaly ORPHA:2528
Joubert Syndrome 13
Pachygyria, Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Dilated fourth ventricle, Cerebellar vermis atrophy, Cerebellar atrophy, Diffuse cerebral atrophy ORPHA:1170
Vacterl Association With Hydrocephalus
Renal hypoplasia, Hydrocephalus, Aqueductal stenosis OMIM:276950
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Hypospadias, Depressed nasal bridge, Dysgenesis of the cerebellar vermis, Wide nasal bridge, Vent... OMIM:619479
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Wide nasal bridge, Frontal bossing, Molar tooth sign on MRI, Cerebral atrophy, Hypoplasia of the ... ORPHA:166024
Fatty Acyl-Coa Reductase 1 Deficiency
Dandy-Walker malformation, Cerebellar atrophy, Depressed nasal bridge, Short nose, Progressive mi... ORPHA:438178
Kleeblattschaedel
Craniosynostosis, Hydrocephalus, Cloverleaf skull OMIM:148800
Orofaciodigital Syndrome I
Abnormal cortical gyration, Underdeveloped nasal alae, Pancreatic cysts, Myelomeningocele, Hypoth... OMIM:311200
Lissencephaly 5
Subcortical band heterotopia, Cerebellar hemisphere hypoplasia, Leukoencephalopathy, Cerebellar v... OMIM:615191
Chromosome 3Pter-P25 Deletion Syndrome
Flat occiput, Broad nasal tip, Depressed nasal bridge, Brachycephaly, Trigonocephaly, Prominent n... OMIM:613792
Ritscher-Schinzel Syndrome 1
Dandy-Walker malformation, Hypospadias, Hydronephrosis, Depressed nasal bridge, Brachycephaly, Hy... OMIM:220210
Fried Syndrome
Thickened calvaria, Hydrocephalus, Abnormal cerebellum morphology, Cerebral calcification ORPHA:85335
Pallister-Hall-Like Syndrome
Depressed nasal bridge, Hypothalamic hamartoma, Renal dysplasia, Short nose, Micropenis, Hydrocep... OMIM:241800
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Plagiocephaly, Midface retrusion, Short nose, Abnormal corpus callosum morphology, Cavum septum p... ORPHA:457279
Phelan-Mcdermid Syndrome
Concave nasal ridge, Wide nasal bridge, Ventriculomegaly, Polycystic kidney dysplasia, Bulbous no... OMIM:606232
Peroxisome Biogenesis Disorder 11A (Zellweger)
Depressed nasal bridge, Large fontanelles, Renal cyst, Wide anterior fontanel, Polymicrogyria, Mu... OMIM:614883
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Chiari malformation, Convex nasal ridge, Brachycephaly, Frontal bossing, Aplasia/Hypoplasia of th... ORPHA:93262
Frontal Encephalocele
Spina bifida, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Cerebral calcification, D... ORPHA:1931
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Brachycephaly, Short nose, Wide nasal bridge, Ventriculomegaly, Agenesis of corpus callosum, Incr... OMIM:218000
Cebalid Syndrome
Plagiocephaly, Depressed nasal ridge, Depressed nasal bridge, Brachycephaly, Platystencephaly, Sh... OMIM:618774
Ataxia-Telangiectasia-Like Disorder
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Cerebellar atrophy, Hypergonadotropic hyp... ORPHA:251347
Gorlin Syndrome
Brachycephaly, Hypogonadotropic hypogonadism, Wide nasal bridge, Frontal bossing, Hydrocephalus, ... ORPHA:377
Crouzon Disease
Chiari malformation, Convex nasal ridge, Brachycephaly, Frontal bossing, Hydrocephalus, Turriceph... ORPHA:207
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hypoplasia of the pons, Ventriculomegaly, Hydrocephalus, Type II lisse... OMIM:613154
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Plagiocephaly, Broad nasal tip, Dilated fourth ventricle, Hypoplasia of the pons, Short nose, Pro... OMIM:300749
Combined Oxidative Phosphorylation Deficiency 25
Cerebellar atrophy, Depressed nasal bridge, Short nose, Wide nasal bridge, Cerebral atrophy, Ante... OMIM:616430
Bainbridge-Ropers Syndrome
Underdeveloped nasal alae, Broad nasal tip, Depressed nasal bridge, Metopic synostosis, Large fon... OMIM:615485
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Fusion of the left and right thalami, Dilated fourth ventricle, Wide nasal bridge, Cerebellar ver... OMIM:619306
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Dilation of lateral ventricles, Elevated hemoglobin A1c, Microcephaly OMIM:619278
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Parathyroid carcinoma, Pancreatic adenocarcinoma, Hurthle cell thyroid adenoma, Re... OMIM:145001
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Abnormal eyelash morphology, Sparse body hair, Sparse scalp hair ORPHA:1008
Tibial Hemimelia
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... ORPHA:93322
Hydrocephalus, Congenital, 3, With Brain Anomalies
Dandy-Walker malformation, Hydranencephaly, Holoprosencephaly, Ventriculomegaly, Hydrocephalus OMIM:617967
Even-Plus Syndrome
Renal hypoplasia, Depressed nasal ridge, Dysplastic corpus callosum, Brachycephaly, Short nose, R... OMIM:616854
Meckel Syndrome, Type 4
Dandy-Walker malformation, Meningocele, Anencephaly, Agenesis of cerebellar vermis, Renal cyst, M... OMIM:611134
Bardet-Biedl Syndrome 4
External genital hypoplasia, Renal cyst, Hypogonadism, Cryptorchidism, Abnormality of the kidney OMIM:615982
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Depressed nasal bridge, Megalencephaly, Leukemia, Ventriculomegaly, Cavum septum pellucidum, Hydr... OMIM:602501
Cornelia De Lange Syndrome 2
Brachycephaly, Prominent nasal bridge, Ventriculomegaly, Anteverted nares, Microcephaly OMIM:300590
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Anemia, Ventriculomegaly, Diffu... OMIM:614946
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent thumb, Hypoplasia of the ulna, Short... OMIM:612447
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Pierpont Syndrome
Broad nasal tip, Brachycephaly, Wide nose, Short nose, Micropenis, Midface retrusion, Cryptorchid... OMIM:602342
Acrofacial Dysostosis, Rodríguez Type
Renal hypoplasia/aplasia, Arrhinencephaly, Prominent nasal bridge, Aqueductal stenosis ORPHA:1788
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Cerebellar cyst, Cerebellar dysplasia, Hypoplasia of the pons, Lissenc... OMIM:613153
1Q21.1 Microduplication Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Frontal bossing ORPHA:250994
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Low hanging columella, Bulbous nose, Hydrocephalus, Thin corpus callosum, Cerebellar hypoplasia, ... OMIM:619512
Chromosome 6Q24-Q25 Deletion Syndrome
Probst bundles, Frontal bossing, Hydrocephalus, Anteverted nares, Dilation of lateral ventricles,... OMIM:612863
Acromelic Frontonasal Dysplasia
Meningocele, Choroid plexus cyst, Broad nasal tip, Hypoplasia of the olfactory bulb, Large fontan... ORPHA:1827
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Periventricular cysts, Abnormal CSF pyruvate family amino acid concentration, Abnormal corpus cal... ORPHA:255182
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly OMIM:614830
Pontocerebellar Hypoplasia, Type 10
Underdeveloped nasal alae, Short nose, Wide nasal bridge, Simplified gyral pattern, Ventriculomeg... OMIM:615803
Nephronophthisis 16
Nephronophthisis, Polycystic kidney dysplasia, Renal insufficiency, Enlarged kidney OMIM:615382
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Polymicrogyria, Agenesis o... ORPHA:250972
Aicardi Syndrome
Dilated third ventricle, Dandy-Walker malformation, Partial agenesis of the corpus callosum, Chor... OMIM:304050
Pettigrew Syndrome
Dandy-Walker malformation, Prominent nose, Ventriculomegaly, Hydrocephalus, Cerebral calcificatio... OMIM:304340
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Rena... OMIM:143400
Masa Syndrome
Hydrocephalus, Agenesis of corpus callosum, Microcephaly, Ventriculomegaly OMIM:303350
Orofaciodigital Syndrome Type 14
Dilated third ventricle, Dandy-Walker malformation, Partial agenesis of the corpus callosum, Dila... ORPHA:434179
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Hydronephrosis, Renal cyst, Vesicoureteral reflux OMIM:618270
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis, Brachycephaly, Holoprosencephaly, Micropenis, Cryptorchidism, Agenesis of corpus cal... OMIM:610680
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Lathosterolosis
Meningocele, Horseshoe kidney, Anisopoikilocytosis, Chiari malformation, Thrombocytopenia, Short ... ORPHA:46059
Cortical Blindness, Retardation, And Postaxial Polydactyly
Frontal bossing, Short nose OMIM:218010
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Dysgyria, Hypoplasia of the brainstem, Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebral wh... ORPHA:352682
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Craniofacial Dyssynostosis
Underdeveloped nasal alae, Craniosynostosis, Wide nasal bridge, Frontal bossing, Hydrocephalus, D... ORPHA:1516
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Hydronephrosis, Short nose, Ventriculomegaly, Vesicoureteral reflux, Anteverted... OMIM:613735
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short nose, Hypoplasia of the corpus callosum, Microcephaly, Ventriculomegaly ORPHA:1495
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Trigonocephaly, Renal dysplasia, Nephronophthisis, Craniosynostosis, Renal cyst, Stage 5 chronic ... OMIM:266920
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Plagiocephaly, Colpocephaly, Polymicrogyria, Cerebellar hypoplasia, Anteverted nares, Midface ret... OMIM:618731
Oculotrichodysplasia
Sparse eyelashes, Sparse lateral eyebrow, Sparse scalp hair, Sparse pubic hair, Generalized hypot... OMIM:257960
Alkuraya-Kucinskas Syndrome
Plagiocephaly, Depressed nasal bridge, Cerebellar dysplasia, Short nose, Ventriculomegaly, Microp... OMIM:617822
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Kleefstra Syndrome Due To 9Q34 Microdeletion
Flat occiput, Cerebral cortical hemiatrophy, Brachycephaly, Short nose, Cerebral cortical atrophy... ORPHA:96147
Crandall Syndrome
Fine hair, Brittle hair, Alopecia, Pili torti, Aplasia/Hypoplasia of the eyebrow, Hypoplasia of p... ORPHA:202
Orofaciodigital Syndrome Type 10
Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... ORPHA:2756
Microcephaly 26, Primary, Autosomal Dominant
Hydronephrosis, Dysplastic corpus callosum, Trigonocephaly, Short nose, Prominent nasal bridge, S... OMIM:619179
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Plagiocephaly, Flat occiput, Brachycephaly, Diffuse cerebral atrophy, Microcephaly ORPHA:2898
Craniotelencephalic Dysplasia
Arrhinencephaly, Septo-optic dysplasia, Craniosynostosis, Frontal bossing, Hydrocephalus, Cerebel... ORPHA:1528
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Renal hypoplasia OMIM:618914
Monilethrix
Fine hair, Brittle hair, Abnormal eyebrow morphology, Abnormality of the nail, Slow-growing hair,... ORPHA:573
Angioma Serpiginosum, X-Linked
Fine hair, Nail dystrophy, Sparse hair OMIM:300652
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Elevated circulating long chain fatty acid concentration, Large fontanelles, Hypop... OMIM:214110
Monilethrix
Nail dystrophy, Brittle hair, Alopecia, Abnormality of hair texture, Nail dysplasia, Sparse hair OMIM:158000
Fanconi Anemia, Complementation Group R
Hydrocephalus, Microcephaly OMIM:617244
Biemond Syndrome Type 2
Hypospadias, Hypogonadotropic hypogonadism, Hypogonadism, Hydrocephalus, Delayed puberty ORPHA:141333
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatic cysts, Stage 5 chronic kidney disease, Recurrent urinary tract infections, Polycystic kid... OMIM:613095
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Multifocal cerebral white matter abnormalities, Brachycephaly, Wide nasal bridge, Microcephaly, C... ORPHA:352530
Hydrolethalus Syndrome 2
Anencephaly, Ventriculomegaly, Molar tooth sign on MRI, Hydrocephalus, Agenesis of corpus callosum OMIM:614120
Developmental And Epileptic Encephalopathy 73
Short nose, Narrow nasal bridge, Midface retrusion, Hypoplasia of the corpus callosum, Microcephaly OMIM:618379
Nphp3-Related Meckel-Like Syndrome
Dandy-Walker malformation, Renal dysplasia, Multicystic kidney dysplasia ORPHA:3032
Harrod Syndrome
Hypospadias, Long nose, External genital hypoplasia, Renal cortical microcysts, Cryptorchidism OMIM:601095
Joubert Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease, Wide nasal bridge, Cerebellar vermis hypoplasia... OMIM:608629
5Q14.3 Microdeletion Syndrome
Agenesis of cerebellar vermis, Short nose, Ventriculomegaly, Frontal cortical atrophy, Anteverted... ORPHA:228384
Gomez-Lopez-Hernandez Syndrome
Agenesis of cerebellar vermis, Brachycephaly, Craniosynostosis, Skull asymmetry, Wormian bones, S... OMIM:601853
Palmoplantar Keratoderma And Woolly Hair
Sparse eyelashes, Woolly scalp hair, Sparse and thin eyebrow, Woolly hair, Leukonychia, Sparse sc... OMIM:616099
Orofaciodigital Syndrome Viii
Syndactyly, Polydactyly, Short tibia OMIM:300484
Hypochondroplasia
Genu varum, Aplasia/hypoplasia of the extremities, Abnormality of pelvic girdle bone morphology, ... OMIM:146000
Verheij Syndrome
Renal hypoplasia, Renal agenesis, Short nose, Renal cyst, Wide nasal bridge, Cerebral atrophy, Mi... OMIM:615583
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Wide nasal bridge, Ventriculomegaly, Aqueductal stenosis OMIM:600906
17Q21.31 Microduplication Syndrome
Anteverted nares, Short nose, Delayed puberty, Microcephaly ORPHA:217340
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Aqueductal stenosis, Ventriculomegaly OMIM:600907
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Anemi... OMIM:615631
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... ORPHA:3332
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Anteverted nares, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Brachycephaly OMIM:618859
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia, Dolichocephaly, Prominent nasal bridge, Prominent nose ORPHA:3270
Smith-Magenis Syndrome
Abnormality of the ureter, Depressed nasal bridge, Brachycephaly, Abnormal localization of kidney... ORPHA:819
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal eyelash morphology, Abnormal toenail morphology, Aplasia/Hypoplasia of the eyebrow, Spar... ORPHA:1818
Pfeiffer Syndrome Type 2
Chiari malformation, Depressed nasal bridge, Cloverleaf skull, Short nose, Hydrocephalus, Choanal... ORPHA:93259
Smith-Magenis Syndrome
Brachycephaly, Abnormality of the urinary system, Wide nasal bridge, Ventriculomegaly, Hyperchole... OMIM:182290
Cataract-Intellectual Disability-Hypogonadism Syndrome
Depressed nasal bridge, Brachycephaly, Hypogonadotropic hypogonadism, Midface retrusion, Cryptorc... ORPHA:1387
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Underdeveloped nasal alae, Hydronephrosis, Small scrotum, Short nose, Prominent nasal bridge, Ven... ORPHA:2083
Meckel Syndrome, Type 1
Ambiguous genitalia, female, Splenomegaly, Ambiguous genitalia, male, Accessory spleen, Adrenal h... OMIM:249000
Endove Syndrome, Limb-Only Type
Triangular tibia, Absent proximal finger flexion creases, 3-4 finger syndactyly, Aplasia of the d... OMIM:619217
Temple Syndrome
Depressed nasal bridge, Maturity-onset diabetes of the young, Wide nose, Hypercholesterolemia, Fr... OMIM:616222
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... ORPHA:3344
Congenital Disorder Of Glycosylation, Type Ig
Talipes equinovarus, Rhizomelia, Short ribs, Hypoplasia of the radius, Sandal gap, Retinal detach... OMIM:607143
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal dysplasia, Genu varum, Metaphyseal cupping of metacarpals, Metaphyseal irregularity, ... OMIM:250460
Igg4-Related Retroperitoneal Fibrosis
Hydronephrosis, Normocytic anemia, Nephrotic syndrome, Renovascular hypertension, Membranous neph... ORPHA:49041
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased serum iron, Decreased transferrin saturation, Anisopoikilocytosis, Adrenal insufficienc... ORPHA:300298
Miller-Dieker Syndrome
Short nose, Lissencephaly, Nephropathy, Anteverted nares, Hypoplasia of the corpus callosum, Cere... ORPHA:531
Hair Defect With Photosensitivity And Mental Retardation
Sparse eyelashes, Brittle hair, Coarse hair, Sparse and thin eyebrow, Sparse hair OMIM:234030
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Macrocytic dy... OMIM:224120
Joubert Syndrome 7
Brainstem dysplasia, Nephronophthisis, Renal cyst, Abnormal corpus callosum morphology, Hypoplasi... OMIM:611560
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, B lymphocytopenia, Schistocytosis, Hypochromic microcytic anemia, Ne... OMIM:616084
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... ORPHA:1986
Joubert Syndrome 37
Hydronephrosis, Prominent metopic ridge, Wide nose, Wide nasal bridge, Frontal bossing, Cerebella... OMIM:619185
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
X-Linked Intellectual Disability, Cantagrel Type
Short nose, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Ventriculomegaly ORPHA:85277
Woolly Hair
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... ORPHA:170
Acrocephalopolydactyly
Depressed nasal ridge, Short nose, Oxycephaly, Premature closure of fontanelles, Hepatosplenomega... ORPHA:221054
Inverted Duplicated Chromosome 15 Syndrome
Broad nasal tip, Brachycephaly, Hypogonadism, Unilateral renal agenesis, Cryptorchidism, Precocio... ORPHA:3306
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Hydronephrosis, Brachycephaly, Short nose, Wormian bones, Wide nasal bridge, Ventric... OMIM:616897
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,... ORPHA:85188
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypospadias, Depressed nasal ridge, Short nose, Anteverted nares ORPHA:1355
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Underdeveloped nasal alae, Depressed nasal bridge, Brachycephaly, Agenesis of cerebellar vermis, ... ORPHA:228390
Acrodysostosis 1 With Or Without Hormone Resistance
Elevated circulating parathyroid hormone level, Broad nasal tip, Depressed nasal bridge, Congenit... OMIM:101800
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology, Cerebral calcification ORPHA:73256
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Pachygyria, Agyria, Dilation ... ORPHA:2148
Glutaric Acidemia I
Dilation of lateral ventricles, Glutaric aciduria, Ketonuria OMIM:231670
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Cerebellar atrophy, Brachycephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly ORPHA:320385
Galloway-Mowat Syndrome
Nephrotic syndrome, Pachygyria, Nephropathy, Proteinuria, Microcephaly, Aqueductal stenosis ORPHA:2065
Syndromic X-Linked Intellectual Disability 7
Micropenis, Hypoplasia of penis, Sparse body hair ORPHA:85274
Joubert Syndrome 31
Molar tooth sign on MRI, Hypoplasia of the corpus callosum, Ventriculomegaly OMIM:617761
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Depressed nasal bridge, Wide nasal bridge, Bulbous nose, Hydrocephalus, Abnormal cerebral white m... OMIM:600991
L1 Syndrome
Hydrocephalus, Aqueductal stenosis ORPHA:275543
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Perisylvian polymicrogyria, Megalencephaly, Hypoplasia of the pons,... ORPHA:280195
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Fibular bowing, Tibial bowing, Generalized bone demineralization, Rickets, Thin bony ... OMIM:600785
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilation of lateral ventricles, Agenesis of corpus callosum OMIM:300952
Baraitser-Winter Syndrome 1
Trigonocephaly, Short nose, Wide nasal bridge, Ventriculomegaly, Pachygyria, Micropenis, Antevert... OMIM:243310
Coach Syndrome 2
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Hydrocephalus, Hyperechogenic kidneys, Age... OMIM:619111
Craniofrontonasal Dysplasia
Hypospadias, Plagiocephaly, Depressed nasal ridge, Brachycephaly, Craniosynostosis, Wide nasal br... ORPHA:1520
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Cerebellar atrophy, Depressed nasal bridge, Nephrocalcinosis, Brachycephaly, Short nose, Renal cy... OMIM:615398
Oliver-Mcfarlane Syndrome
Hypoplasia of penis, Alopecia, Long eyelashes, Sparse hair, Long eyebrows OMIM:275400
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Colpocephaly, Simplified gyral pattern, Ventriculomegaly, Frontal bo... OMIM:615219
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Small anterior fontanelle, Cerebellar atrophy, Depressed nasal bridge, Short nose, Progressive mi... OMIM:617802
Acrofacial Dysostosis Syndrome Of Rodriguez
Micrognathia, Triphalangeal thumb, Talipes equinovarus, Fibular hypoplasia, Overlapping toe, 11 p... OMIM:201170
Corpus Callosum, Partial Agenesis Of, X-Linked
Partial agenesis of the corpus callosum, Inferior vermis hypoplasia, Hydrocephalus, Cerebellar hy... OMIM:304100
8P11.2 Deletion Syndrome
Hemolytic anemia, Depressed nasal bridge, Hypoplasia of penis, Azoospermia, Hypogonadotropic hypo... ORPHA:251066
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Elevated circulating creatinine concen... OMIM:614817
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominent nose, Renal tubular dysfunction, Cranial asymmetry, Elevated circulating long chain fat... OMIM:614886
Coxopodopatellar Syndrome
Aplasia/Hypoplasia of the patella, Abnormality of the knee, Abnormality of epiphysis morphology, ... ORPHA:1509
Bone Marrow Failure Syndrome 5
Testicular atrophy, Anemia, Pure red cell aplasia, Hypogonadism, Microcephaly OMIM:618165
Joubert Syndrome 5
Renal cortical cysts, Agenesis of cerebellar vermis, Nephronophthisis, Stage 5 chronic kidney dis... OMIM:610188
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormality of the metaphysis, Reduced bone mineral density, Brachydactyly, Hip dysplasia, Abnorm... ORPHA:2370
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Agenesis of corpus callosum, Brachycephaly, Ventriculomegaly OMIM:109120
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma, Cortical tubers OMIM:600273
Isochromosomy Yq
Male infertility, Azoospermia ORPHA:98798
Functioning Gonadotropic Adenoma
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... ORPHA:91348
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Brachycephaly, Pachygyria, Micropenis, Polycystic kidney dysplasia, Cerebellar vermis hypoplasia,... OMIM:263520
Trichohepatoenteric Syndrome 1
Hypospadias, Increased serum iron, Abnormality of iron homeostasis, Depressed nasal ridge, Increa... OMIM:222470
Nephronophthisis 18
Renal tubular atrophy, Tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney dis... OMIM:615862
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Large fontanelles, Short nose, Anteverted nares, Delayed cranial suture cl... ORPHA:1832
Bardet-Biedl Syndrome 8
Hypospadias, Renal dysplasia, Hypogonadism, Brachycephaly OMIM:615985
Kleefstra Syndrome Due To A Point Mutation
Plagiocephaly, Brachycephaly, Ventriculomegaly, Abnormal cerebral white matter morphology, Cerebe... ORPHA:261652
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Splenomegaly, Polycysti... OMIM:263200
Peroxisomal Acyl-Coa Oxidase Deficiency
Frontal bossing, Depressed nasal bridge, Wide nasal bridge, Brachycephaly OMIM:264470
19P13.12 Microdeletion Syndrome
Hypospadias, Hyperlipidemia, Brachycephaly, Craniosynostosis, Aplasia/Hypoplasia of the cerebella... ORPHA:254346
Fetal Trimethadione Syndrome
Hypospadias, Depressed nasal bridge, Brachycephaly, Short nose, Ambiguous genitalia, Midface retr... ORPHA:1913
Joubert Syndrome 35
Hydronephrosis, Depressed nasal bridge, Recurrent urinary tract infections, Multicystic kidney dy... OMIM:618161
Machado-Joseph Disease Type 1
Cerebellar atrophy, Dilated fourth ventricle, Degeneration of the striatum, Substantia nigra glio... ORPHA:276238
Machado-Joseph Disease Type 2
Cerebellar atrophy, Dilated fourth ventricle, Degeneration of the striatum, Substantia nigra glio... ORPHA:276241
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hypoplastic labia majora, Fused labia minora, Depressed nasal bridge, Brachycephaly, Frontal boss... OMIM:207410
Rhombencephalosynapsis
Septo-optic dysplasia, Agenesis of cerebellar vermis, Short nose, Ventriculomegaly, Abnormal dent... ORPHA:59315
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Sparse eyelashes, Sparse eyebrow, Hypoplastic toenails, Sparse hair, Abnormality of the kidney OMIM:616901
Hemimegalencephaly
Cranial asymmetry, Hemimegalencephaly, Ventriculomegaly, Pachygyria, Polymicrogyria, Focal cortic... ORPHA:99802
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Renal-Hepatic-Pancreatic Dysplasia 1
Dandy-Walker malformation, Pancreatic cysts, Asplenia, Polysplenia, Renal dysplasia, Hepatic cyst... OMIM:208540
Simpson-Golabi-Behmel Syndrome, Type 2
Wide nose, Short nose, Multicystic kidney dysplasia, Micropenis, Scaphocephaly, Recurrent upper r... OMIM:300209
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Widow's peak, Sparse hair, Thick eyebrow OMIM:606242
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... OMIM:612926
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Wide nasal bridge, Frontal bossing, Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Frontal bossing, Short nose, Hydrocephalus, Wide nasal bridge OMIM:613603
Bresek Syndrome
Plagiocephaly, Renal hypoplasia, Convex nasal ridge, Renal dysplasia, Hydrocephalus, Hypoplasia o... ORPHA:85284
Prader-Willi Syndrome Due To Translocation
Flat occiput, Prominent nose, Underdeveloped nasolabial fold, Broad nasal tip, Hypogonadotropic h... ORPHA:177907
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Dandy-Walker malformation, Hydranencephaly, Ventriculomegaly, Hypoplasia of the brainstem, Hydroc... OMIM:225790
47,Xyy Syndrome
Hypospadias, Oligospermia, Macroorchidism, Increased serum testosterone level, Dysgenesis of the ... ORPHA:8
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Depressed nasal bridge, Brachycephaly, Micropenis, Ambiguous genitalia, Unilateral renal agenesis... OMIM:618142
Hereditary Elliptocytosis
Congenital hemolytic anemia, Neonatal hyperbilirubinemia, Stomatocytosis, Hyperbilirubinemia, Cho... ORPHA:288