Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Nek1 MGI:97303

Gene Summary

Name:

NIMA (never in mitosis gene a)-related expressed kinase 1

Synonyms:

kat, D8Ertd790e, kidney, anemia and testis

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased bone mineral content	Nek1^em1(IMPC)Bay	HOM	Early adult	3.52×10^-17
abnormal retina outer nuclear layer morphology	Nek1^em1(IMPC)Bay	HOM	Early adult	0.00
decreased prepulse inhibition	Nek1^em1(IMPC)Bay	HOM	Early adult	2.48×10^-08
decreased grip strength	Nek1^em1(IMPC)Bay	HOM	Early adult	3.61×10^-06
abnormal pelvic girdle bone morphology	Nek1^em1(IMPC)Bay	HOM	Early adult	2.95×10^-05
decreased cardiac stroke volume	Nek1^em1(IMPC)Bay	HOM	Early adult	1.53×10^-06
decreased body length	Nek1^em1(IMPC)Bay	HOM	Early adult	4.26×10^-31
male infertility	Nek1^em1(IMPC)Bay	HOM	Early adult	0.00
decreased total retina thickness	Nek1^em1(IMPC)Bay	HOM	Early adult	2.13×10^-29
abnormal cranium morphology	Nek1^em1(IMPC)Bay	HOM	Early adult	2.71×10^-07
abnormal bone structure	Nek1^em1(IMPC)Bay	HOM	Early adult	1.19×10^-31
short tibia	Nek1^em1(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 Dorso Ventral Orientation

8 Images

View images

Eye Morphology

VIP of right eye

14 Images

View images

Eye Morphology

VIP of left eye

14 Images

View images

Eye Morphology

VIP of right fundus

14 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

View images

X-ray

XRay Images Skull Lateral Orientation

8 Images

View images

Eye Morphology

VIP of left fundus

14 Images

View images

X-ray

XRay Images Forepaw

8 Images

View 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.

Human diseases associated with Nek1 (5 diseases)
Human diseases predicted to be associated with Nek1 (2137 diseases)

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

Disease	Matching phenotypes	Source
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Brachycephaly, Ambiguous genitalia, P...	OMIM:263520
Orofaciodigital Syndrome Type 2	Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,...	ORPHA:2751
Orofaciodigital Syndrome Ii	Depressed nasal bridge, Bifid nasal tip, Broad nasal tip, Hydrocephalus	OMIM:252100
Amyotrophic Lateral Sclerosis	Fatigable weakness of respiratory muscles, Fatigable weakness of bulbar muscles, Fatigable weakne...	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	Matching phenotypes	Source
Hypotrichosis 1	Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar...	OMIM:605389
Polyrrhinia	Abnormal external nose morphology, Lateral ventricle dilatation, Supernumerary naris, Abnormal th...	ORPHA:141091
Spermatogenic Failure 17	Male infertility	OMIM:617214
Hypotrichosis Simplex	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair	ORPHA:55654
Spermatogenic Failure 35	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe...	OMIM:618341
Leukoencephalopathy With Vanishing White Matter 5	Dilated third ventricle, Lateral ventricle dilatation, Decreased CSF asialotransferrin to transfe...	OMIM:620315
Spermatogenic Failure 20	Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:617593
Holoprosencephaly 5	Depressed nasal bridge, Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle ...	OMIM:609637
Intellectual Developmental Disorder, X-Linked 103	Micropenis, Anteverted nares, Lateral ventricle dilatation	OMIM:300982
Band Heterotopia	Ventriculomegaly, Plagiocephaly, Lateral ventricle dilatation, Agenesis of corpus callosum, Hydro...	OMIM:600348
Spermatogenic Failure 72	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe...	OMIM:619867
Spermatogenic Failure 34	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A...	OMIM:618153
Spermatogenic Failure, X-Linked, 5	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:301099
Hypotrichosis 10	Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of the nail, Sparse scalp hair	OMIM:614238
Spermatogenic Failure 46	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:619095
Spermatogenic Failure 33	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618152
Spermatogenic Failure 37	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618429
Spermatogenic Failure 18	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:617576
Spermatogenic Failure 27	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s...	OMIM:617965
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in...	OMIM:618751
Spermatogenic Failure 49	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619094
Spermatogenic Failure 19	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:617592
Spermatogenic Failure 82	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility...	OMIM:620353
Hypotrichosis 11	Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill...	OMIM:615059
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti...	OMIM:620354
Global Developmental Delay With Or Without Impaired Intellectual Development	Plagiocephaly, Lateral ventricle dilatation, Frontal bossing, Bulbous nose, Hypospadias	OMIM:618330
Dandy-Walker Syndrome	Agenesis of cerebellar vermis, Dilated fourth ventricle, Hydrocephalus, Partial absence of cerebe...	OMIM:220200
Spermatogenic Failure 84	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe...	OMIM:620409
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
Peroxisome Biogenesis Disorder 6A (Zellweger)	Wide nasal bridge, Renal cyst, Colpocephaly	OMIM:614870
Hypotrichosis 4	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair	OMIM:146550
Spermatogenic Failure 65	Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph...	OMIM:619712
Spermatogenic Failure 56	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:619515
Spermatogenic Failure, X-Linked, 3	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs...	OMIM:301059
Spermatogenic Failure 40	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C...	OMIM:618664
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,...	OMIM:620222
Spermatogenic Failure 76	Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs...	OMIM:620084
Spermatogenic Failure 58	Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl...	OMIM:619585
Craniosynostosis 6	Plagiocephaly, Cerebellar atrophy, Lateral ventricle dilatation, Parietal foramina, Right unilamb...	OMIM:616602
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u...	OMIM:118651
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619672
Spermatogenic Failure 88	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:620547
Spermatogenic Failure 47	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility	OMIM:619102
Gómez-López-Hernández Syndrome	Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Anteverted nares, Abnormal cerebellu...	ORPHA:1532
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619646
Spermatogenic Failure 74	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619937
Spermatogenic Failure 73	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619878
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Spermatogenic Failure 79	Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia	OMIM:620196
Joubert Syndrome 3	Wide nasal bridge, Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Nephronophthis...	OMIM:608629
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:612997
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Abnormal pelvic girdle bone morphology, Coarse metaphyseal trabecularization, Abnormal diaphysis ...	ORPHA:2779
Spermatogenic Failure 42	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce...	OMIM:618745
Spermatogenic Failure 54	Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol...	OMIM:619379
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility	OMIM:615081
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lambdoidal craniosynostosis, Hypoplasia of the pons, Lateral ventricle dilatation, Bicoronal syno...	OMIM:618736
Spermatogenic Failure 39	Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f...	OMIM:618643
Intellectual Developmental Disorder, Autosomal Dominant 48	Cerebellar vermis hypoplasia, Plagiocephaly, Dysgenesis of the cerebellar vermis, Lateral ventric...	OMIM:617751
Congenital Disorder Of Glycosylation, Type Iiy	Brachycephaly, Ventriculomegaly, Atrophy/Degeneration affecting the brainstem, Agenesis of corpus...	OMIM:620200
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Cerebellar vermis hypoplasia, Ventriculomegaly, Dilated third ventricle, Dysgenesis of the cerebe...	ORPHA:397715
Spermatogenic Failure 78	Microcephalic sperm head, Tapered sperm head, Male infertility	OMIM:620170
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Depressed nasal bridge, Ventriculomegaly, Lateral ventricle dilatation, Dilated fourth ventricle,...	OMIM:613443
Spermatogenic Failure 1	Cryptozoospermia, Male infertility, Oligozoospermia	OMIM:258150
Spermatogenic Failure 41	Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility	OMIM:618670
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Orbital craniosynostosis, Cerebellar hypoplasia, Hydrocephalus, Dolichocephaly, Frontal bossing, ...	ORPHA:1538
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili...	ORPHA:529970
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility	OMIM:619108
Martsolf Syndrome 2	Hypogonadotropic hypogonadism, Broad nasal tip, Lateral ventricle dilatation	OMIM:619420
Spermatogenic Failure 29	Non-obstructive azoospermia, Immotile sperm, Male infertility	OMIM:618091
Dandy-Walker Malformation With Postaxial Polydactyly	Wide nasal bridge, Depressed nasal bridge, Dilated fourth ventricle, Hydrocephalus, Partial absen...	OMIM:220220
Cach Syndrome	Renal hypoplasia, Cerebellar atrophy, Lateral ventricle dilatation, Gonadal dysgenesis, Cerebella...	ORPHA:135
Spermatogenic Failure 5	Multiflagellar spermatozoa, Macrozoospermia, Male infertility	OMIM:243060
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Partial agenesis of the corpus callosum, Dilated fourth ventricle, Cerebellar vermis hypoplasia, ...	OMIM:615771
Syndactyly Type 4	Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot...	ORPHA:93405
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Acromesomelic Dysplasia 2C	Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S...	OMIM:201250
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,...	ORPHA:2722
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Brachycephaly, Lateral ventricle dilatation	OMIM:619972
Pontocerebellar Hypoplasia, Type 12	Cerebellar hypoplasia, Lateral ventricle dilatation, Hypoplasia of the brainstem	OMIM:618266
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
Spermatogenic Failure 22	Cryptozoospermia, Non-obstructive azoospermia, Male infertility	OMIM:617706
X-Linked Parkinsonism-Spasticity Syndrome	Dilated third ventricle, Lateral ventricle dilatation	ORPHA:363654
Spermatogenic Failure 25	Cryptozoospermia, Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:617960
Fibular Hemimelia	Toe syndactyly, Structural foot deformity, Finger syndactyly, Short tibia, Limited knee flexion/e...	ORPHA:93323
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Immotile sperm, Male infertility	OMIM:608653
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Dilated third ventricle, Lateral ventricle dilatation, Prominent nose, Cryptorchidism, Agenesis o...	OMIM:619244
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Spermatogenic Failure 87	Ruffled acrosome, Male infertility	OMIM:620500
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Lissencephaly 4	Cerebellar hypoplasia, Colpocephaly, Wide nasal bridge, Agenesis of corpus callosum	OMIM:614019
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619528
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Wide nasal bridge, Ventriculomegaly, Hypoplastic female external genitalia, Plagiocephaly, Anteve...	OMIM:618577
Hydrocephalus, Congenital, 1	Ventriculomegaly, Hydrocephalus	OMIM:236600
Mpdu1-Cdg	Decreased response to growth hormone stimulation test, Ventriculomegaly, Renal cortical cysts, Pa...	ORPHA:79323
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:619828
Spermatogenic Failure 64	Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe...	OMIM:619696
Spermatogenic Failure 86	Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma...	OMIM:620499
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Dilated third ventricle, Plagiocephaly, Lateral ventricle dilatation, Brachycephaly, Partial agen...	OMIM:617296
Polycystic Kidney Disease 7	Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ...	OMIM:620056
Ectodermal Dysplasia 6, Hair/Nail Type	Alopecia, Sparse hair, Thin toenail, Dystrophic toenail	OMIM:614928
Meckel Syndrome, Type 10	Occipital encephalocele, Frontal bossing, Dilated fourth ventricle, Anencephaly, Cerebellar hypop...	OMIM:614175
Spermatogenic Failure 63	Reduced progressive sperm motility, Male infertility, Oligozoospermia	OMIM:619689
Chudley-Mccullough Syndrome	Ventriculomegaly, Cerebellar dysplasia, Dysplastic corpus callosum, Cerebellar hypoplasia, Hydroc...	OMIM:604213
Meckel Syndrome 13	Cerebellar hypoplasia, Polycystic kidney dysplasia, Occipital encephalocele, Molar tooth sign on MRI	OMIM:617562
Congenital Disorder Of Glycosylation, Type If	Parietal bossing, Ventriculomegaly, Renal cortical cysts	OMIM:609180
Leukoencephalopathy, Progressive, With Ovarian Failure	Premature ovarian insufficiency, Cerebellar atrophy, Lateral ventricle dilatation	OMIM:615889
Ventriculomegaly With Defects Of The Radius And Kidney	Ventriculomegaly, Renal agenesis, Lateral ventricle dilatation, Horseshoe kidney, Hydrocephalus, ...	OMIM:602200
Orofaciodigital Syndrome Xv	Wide nasal bridge, Cerebellar vermis hypoplasia, Ventriculomegaly, Anteverted nares, Agenesis of ...	OMIM:617127
Craniofacial Dyssynostosis With Short Stature	Ventriculomegaly, Brachyturricephaly, Frontal bossing, Horseshoe kidney, Agenesis of corpus callo...	OMIM:218350
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Lateral ventricle dilatation, Brachyc...	OMIM:619995
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure 23	Azoospermia, Male infertility	OMIM:617707
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Azoospermia, Male infertility	OMIM:619145
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico...	OMIM:617610
Spermatogenic Failure 30	Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility	OMIM:618110
Femoral-Facial Syndrome	Ventriculomegaly, Long penis, Cryptorchidism, Renal hypoplasia/aplasia, Maternal diabetes, Abnorm...	ORPHA:1988
Spermatogenic Failure 32	Non-obstructive azoospermia, Male infertility	OMIM:618115
Spermatogenic Failure 71	Non-obstructive azoospermia, Male infertility	OMIM:619831
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Deafness-Infertility Syndrome	Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit...	OMIM:611102
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxyisobutyric acid level, Depressed nasal bridge, Elevated urinary 3-hydro...	OMIM:614105
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Ventriculomegaly, Dilated third ventricle, Plagiocephaly, Hypogonadism, Cryptorchidism, Brachycep...	ORPHA:500055
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Dilated third ventricle, Hypoplasia of the pons, Lateral ventricle dilatation, ...	OMIM:613154
Osebold-Remondini Syndrome	Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos...	OMIM:112910
Chromosome 3Q13.31 Deletion Syndrome	Ventriculomegaly, Plagiocephaly, Alobar holoprosencephaly, Decreased testicular size, Cryptorchid...	OMIM:615433
Mosaic Trisomy 1	Wide nasal bridge, Cerebellar vermis hypoplasia, Depressed nasal bridge, Lateral ventricle dilata...	ORPHA:1692
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ...	ORPHA:240
Microphthalmia-Brain Atrophy Syndrome	Cerebellar vermis atrophy, Abnormal pons morphology, Lateral ventricle dilatation, Atrophy/Degene...	ORPHA:77299
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal spermatogenesis	ORPHA:1646
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation, Cryptorchidism	OMIM:616816
Bardet-Biedl Syndrome 10	Hypogonadism, Renal cyst, Renal insufficiency	OMIM:615987
Leukomelanoderma, Infantilism, Impaired Intellectual Development, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Nephronophthisis 9	Nephronophthisis, Stage 5 chronic kidney disease, Polyuria, Anemia, Renal cortical microcysts	OMIM:613824
Malan Overgrowth Syndrome	Depressed nasal bridge, Ventriculomegaly, Plagiocephaly, Lateral ventricle dilatation, Hypoplasia...	ORPHA:420179
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o...	ORPHA:2098
Potocki-Shaffer Syndrome	Broad nasal tip, Parietal foramina, Underdeveloped nasal alae, Depressed nasal tip, Prominent nas...	ORPHA:52022
Hydrocephalus, Autosomal Dominant	Cerebellar vermis hypoplasia, Sagittal craniosynostosis, Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Depressed nasal bridge, Renal hypoplasia, Chiari malformation, Renal agenesis, Anteverted nares, ...	ORPHA:171839
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities	Ventriculomegaly, Cerebellar atrophy, Dilated fourth ventricle, Pontocerebellar atrophy, Agenesis...	OMIM:620428
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Spermatogenic Failure, X-Linked, 6	Absent sperm axoneme central pair complex, Microcephalic sperm head, Reduced progressive sperm mo...	OMIM:301101
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Reduced terminal:vellus ratio, Pili torti, Sparse hair, Abnormality of the nail, Sparse scalp hair	OMIM:601553
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Severe X-Linked Intellectual Disability, Gustavson Type	Recurrent upper respiratory tract infections, Lateral ventricle dilatation, Dilated fourth ventri...	ORPHA:3078
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Wide nasal bridge, Broad nasal tip, Lateral ventricle dilatation, Short nose	OMIM:615716
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Abnormal pelvic girdle bone morphology, Abnormal long bone morphology, Short toe, Short finger	OMIM:259270
Beemer Lethal Malformation Syndrome	Wide nasal bridge, Hydrocephalus, Thrombocytopenia	OMIM:209970
Lethal Faciocardiomelic Dysplasia	Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Fibu...	ORPHA:1972
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey...	ORPHA:189
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Cerebellar hypoplasia, Abnormal cerebellar vermis morphology, Hydrocephalus	ORPHA:2703
Alg2-Cdg	Wide nasal bridge, Lateral ventricle dilatation	ORPHA:79326
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abn...	ORPHA:1802
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Ventriculomegaly, Hydrocephalus	OMIM:615938
Renal Dysplasia, Cystic, Susceptibility To	Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal...	OMIM:601331
Eiken Syndrome	Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ...	ORPHA:79106
Glutamine Deficiency, Congenital	Wide nasal bridge, Depressed nasal bridge, Lateral ventricle dilatation, Anteverted nares, Hypera...	OMIM:610015
Woolly Hair, Autosomal Recessive 3	Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair	OMIM:616760
Meckel Syndrome, Type 8	Depressed nasal ridge, Occipital encephalocele, Hyperechogenic kidneys, Encephalocele, Ambiguous ...	OMIM:613885
Alg13-Cdg	Abnormal lateral ventricle morphology, Anteverted nares	ORPHA:324422
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Hypoplasia of the pons, Lateral ventricle dilatation, Abnormal brainstem morp...	ORPHA:300573
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Thrombocytopenia, Agenesis of corpus callosum	OMIM:166990
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp...	OMIM:127300
Joubert Syndrome 6	Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Nephronophthisis, Hypoplasia of t...	OMIM:610688
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Langer Mesomelic Dysplasia	Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul...	OMIM:249700
Graham Little-Piccardi-Lassueur Syndrome	Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair	ORPHA:505
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventriculomegaly, Lateral ventricle dilatation, Increased CSF lactate, Cerebellar cyst, Abnormal ...	ORPHA:79243
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Sparse pubic hair, Abnormal hair morphology, Onychogryposis of toenails, Nail dystrophy, Sparse e...	ORPHA:1808
Spermatogenic Failure 81	Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:620277
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation	ORPHA:306669
Anemia, Congenital Dyserythropoietic, Type Iv	Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product...	OMIM:613673
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Ventriculomegaly, Broad nasal tip, Plagiocephaly, Anteverted nares, Renal cortical cysts, Vesicou...	OMIM:618548
D-2-Hydroxyglutaric Aciduria 1	Glutaric aciduria, Lateral ventricle dilatation, Elevated CSF D-2-hydroxyglutaric acid concentrat...	OMIM:600721
17P13.3 Microduplication Syndrome	Ventriculomegaly, Hypoplasia of penis, Frontal bossing, Short nose, Wide nose	ORPHA:217385
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Ventriculomegaly, Hydrocephalus	OMIM:615937
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Brachycephaly, Ventriculomegaly	OMIM:300699
Congenital Muscular Dystrophy With Cerebellar Involvement	Ventriculomegaly, Decreased thalamic volume, Occipital encephalocele, Hypoplasia of the pons, Hyp...	ORPHA:370959
Pontocerebellar Hypoplasia, Type 1A	Cerebellar hypoplasia, Hypoplasia of the pons, Hypoplasia of the ventral pons, Lateral ventricle ...	OMIM:607596
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Cerebellar vermis atrophy, Dilated fourth ventricle, Increased CSF lactate	OMIM:619054
Bardet-Biedl Syndrome 16	Renal agenesis, Hypogonadism, External genital hypoplasia, Stage 5 chronic kidney disease, Renal ...	OMIM:615993
Crouzon Syndrome With Acanthosis Nigricans	Choanal atresia, Brachycephaly, Craniosynostosis, Hydrocephalus	OMIM:612247
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten...	OMIM:605274
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Congenital Hydrocephalus	Ventriculomegaly, Bulbous nose, Colpocephaly, Hydrocephalus, Frontal bossing	ORPHA:2185
Non-Distal Duplication 10Q	Depressed nasal bridge, Abnormality of the urinary system, Cryptorchidism, Brachycephaly, Convex ...	ORPHA:1695
Nephronophthisis 14	Cerebellar vermis hypoplasia, Nephronophthisis, Polycystic kidney dysplasia	OMIM:614844
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Ventriculomegaly, Hyperechogenic kidneys, Decreased calvarial ossification, Choroid plexus cyst, ...	OMIM:617866
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Hyposerinemia, Cerebellar vermis hypoplasia, Depressed nasal bridge, Lateral ventricle dilatation...	ORPHA:284417
Pontocerebellar Hypoplasia, Type 15	Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebellar hypoplasia, Hydrocephalus, T...	OMIM:619302
Cornelia De Lange Syndrome 5	Depressed nasal bridge, Ventriculomegaly, Broad nasal tip, Hypogonadism, Decreased testicular siz...	OMIM:300882
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Hypogonadism, Sideroblastic anemia, Azoospermia, Sp...	OMIM:615234
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu...	ORPHA:766
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cerebellar vermis hypoplasia, Ventriculomegaly, Red-brown urine, Elevated circulating acylcarniti...	ORPHA:228308
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Nephronophthisis 20	Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren...	OMIM:617271
Adams-Oliver Syndrome 2	Depressed nasal bridge, Lateral ventricle dilatation, Bulbous nose, Cerebellar hypoplasia, Hydroc...	OMIM:614219
Carnitine Palmitoyltransferase Ii Deficiency	Cerebellar vermis hypoplasia, Red-brown urine, Elevated circulating acylcarnitine concentration, ...	ORPHA:157
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:2182
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Increased serum pyruvate, Hyperalaninemia, Lateral ventricle dilatation	OMIM:617668
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Depressed nasal bridge, Cerebellar atrophy, Frontal bossing, Hypocholesterolemia...	OMIM:608776
Trichodysplasia-Xeroderma Syndrome	Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P...	ORPHA:3361
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp	OMIM:617294
Joubert Syndrome 16	Nephronophthisis, Encephalocele, Renal cyst, Molar tooth sign on MRI, Dandy-Walker malformation	OMIM:614465
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Anteverted nares, Hydronephrosis, Frontal bossing, Short nose	ORPHA:1450
Williams-Beuren Region Duplication Syndrome	Cerebellar vermis hypoplasia, Ventriculomegaly, Unilateral renal agenesis, Broad nasal tip, Decre...	OMIM:609757
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Turricephaly, Craniosynostosis, Agenesis of corpus callosum	ORPHA:1496
46,Xy Sex Reversal 4	Depressed nasal ridge, Renal dysplasia, Gonadal dysgenesis, Trigonocephaly, Elevated circulating ...	OMIM:154230
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ventriculomegaly, Increased total bilirubin, Nasal congestion, Elevated circulating creatinine co...	OMIM:608836
Slc35A2-Cdg	Precocious puberty, Abnormal midbrain morphology, Cerebellar atrophy, Elevated circulating thyroi...	ORPHA:356961
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
X-Linked Intellectual Disability, Wilson Type	Brachycephaly, Hydrocele testis, Lateral ventricle dilatation	ORPHA:85290
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum	OMIM:307000
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Cerebellar atrophy, Organic aciduria, Sideroblastic anemia, Pappenheimer bod...	OMIM:301310
Trisomy 17P	Thick nasal alae, Prominent nose, Wide nose, Hydronephrosis, Hydrocephalus, Hypoplasia of penis, ...	ORPHA:261290
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ...	OMIM:602088
Basel-Vanagaite-Smirin-Yosef Syndrome	Cholelithiasis, Dilated third ventricle, Lateral ventricle dilatation, Male urethral meatus steno...	ORPHA:464738
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Depressed nasal bridge, Cerebellar atrophy, Abnormal lateral ventricle morphology, Cerebellar hyp...	ORPHA:488635
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Inferior cerebellar vermis hypoplasia, Abnormal brainstem morphology, Dilated fourth ventricle, C...	ORPHA:370022
Spinocerebellar Ataxia, Autosomal Recessive 13	Dilated fourth ventricle, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Retrocerebel...	OMIM:614831
Pineocytoma	Increased CSF protein concentration, Hydrocephalus	ORPHA:251912
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Lateral ventricle dilatation, Broad columella, Glandular hypospadias, Thick nasal alae, Bulbous n...	ORPHA:293725
Distal Triplication 15Q	Dilatation of the renal pelvis, Horseshoe kidney, Nephroblastoma, Hydronephrosis, Hydrocephalus, ...	ORPHA:314588
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dilated third ventricle, Lateral ventricle dilatation, Bilateral cryptorchidism, Bulbous nose, Dy...	ORPHA:544488
Pontocerebellar Hypoplasia, Type 14	Hypoplasia of the pons, Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebellar hypo...	OMIM:619301
Peroxisome Biogenesis Disorder 5A (Zellweger)	Clitoral hypertrophy, Cerebellar atrophy, Cerebellar vermis atrophy, Elevated circulating phytani...	OMIM:614866
Arima Syndrome	Cerebellar vermis hypoplasia, Nephronophthisis, Hypoplasia of the brainstem, Brainstem dysplasia,...	OMIM:243910
Lissencephaly Due To Tuba1A Mutation	Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the brainstem, Dilated fourth ventr...	ORPHA:171680
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation	OMIM:618890
Pseudo-Torch Syndrome 2	Ventriculomegaly, Lateral ventricle dilatation, Cerebellar hypoplasia, Abnormal renal corticomedu...	OMIM:617397
Pontocerebellar Hypoplasia, Type 13	Cerebellar vermis hypoplasia, Hypoplasia of the pons, Lateral ventricle dilatation, Anteverted na...	OMIM:618606
Spinocerebellar Ataxia, Autosomal Recessive 2	Cerebellar hypoplasia, Cerebellar vermis atrophy, Dilated fourth ventricle	OMIM:213200
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Abnormal dentate nucleus morphology, Partial agenesis of the corpus callosum, Lateral ventricle d...	OMIM:619517
Acheiropody	Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas...	OMIM:200500
C Syndrome	Wide nasal bridge, Clitoral hypertrophy, Trigonocephaly, Anteverted nares, Renal cortical cysts, ...	OMIM:211750
Pfeiffer Syndrome Type 3	Choanal atresia, Depressed nasal bridge, Chiari malformation, Brachyturricephaly, Horseshoe kidne...	ORPHA:93260
Hypotrichosis 7	Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill...	OMIM:604379
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis...	ORPHA:67044
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr...	OMIM:617805
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Depressed nasal bridge, Dilated third ventricle, Lateral ventricle dilatation, Renal tubular acid...	OMIM:619575
Meckel Syndrome, Type 11	Polycystic kidney dysplasia, Occipital encephalocele	OMIM:615397
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Urinary incontinence, Lateral ventricle dilatation	OMIM:221770
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Adenylosuccinate Lyase Deficiency	Brachycephaly, Anteverted nares, Short nose, Flat occiput	ORPHA:46
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating creatinine c...	OMIM:617872
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly	OMIM:246570
Potocki-Shaffer Syndrome	Wide nasal bridge, Parietal foramina, Underdeveloped nasal alae, Turricephaly, Brachycephaly, Mic...	OMIM:601224
Peroxisome Biogenesis Disorder 3A (Zellweger)	Increased circulating very long-chain fatty acid concentration, Polycystic kidney dysplasia, Wide...	OMIM:614859
Congenital Disorder Of Glycosylation, Type Iig	Wide nasal bridge, Cerebellar vermis hypoplasia, Giant platelets, Lateral ventricle dilatation, C...	OMIM:611209
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ventriculomegaly, Hydrocephalus	OMIM:618709
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Renal hypoplasia, Hydrocephalus	OMIM:276950
Asparagine Synthetase Deficiency	Cerebellar vermis hypoplasia, Ventriculomegaly, Dilated third ventricle, Hypoplasia of the pons, ...	OMIM:615574
Isochromosomy Yp	Azoospermia, Male infertility	ORPHA:98797
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Cerebellar vermis hypoplasia, Depressed nasal bridge, Trigonocephaly, Scaphocephaly, Agenesis of ...	ORPHA:459061
Pfeiffer Syndrome Type 1	Depressed nasal bridge, Bicoronal synostosis, Brachycephaly, Aqueductal stenosis, Short nose	ORPHA:93258
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Ventriculomegaly, Multicystic kidney dysplasia, Underdeveloped nasal alae, Anteverted nares, Rena...	ORPHA:2031
Paganini-Miozzo Syndrome	Urinary incontinence, Lateral ventricle dilatation	OMIM:301025
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility	OMIM:261550
Spermatogenic Failure, X-Linked, 7	Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper...	OMIM:301106
Nephronophthisis 16	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi...	OMIM:615382
Multiple Acyl-Coa Dehydrogenase Deficiency	Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric...	OMIM:231680
Cog5-Cdg	Wide nasal bridge, Urinary incontinence, Cerebellar atrophy, Lateral ventricle dilatation, Hepato...	ORPHA:263487
Pierpont Syndrome	Ventriculomegaly, Chiari malformation, Cryptorchidism, Wide nasal ridge, Brachycephaly	ORPHA:487825
Spermatogenic Failure 85	Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi...	OMIM:620490
1Q21.1 Microduplication Syndrome	Hypospadias, Hydrocephalus, Cryptorchidism, Frontal bossing	ORPHA:250994
Autosomal Recessive Cutis Laxa Type 2A	Cerebellar vermis hypoplasia, Cerebellar malformation, Dilated fourth ventricle, Prominent nasal ...	ORPHA:357058
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, Clitoral hypertrophy, Brachyturricephaly, Anteverted nares, Cryptorchidism, Hydron...	OMIM:214100
Poretti-Boltshauser Syndrome	Cerebellar vermis hypoplasia, Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar cyst	OMIM:615960
Mosaic Variegated Aneuploidy Syndrome 1	Depressed nasal bridge, Ventriculomegaly, Multicystic kidney dysplasia, Bifid scrotum, Anteverted...	OMIM:257300
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Alopecia universalis, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair	ORPHA:1008
Bardet-Biedl Syndrome 4	Hypogonadism, External genital hypoplasia, Cryptorchidism, Renal cyst, Abnormality of the kidney	OMIM:615982
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Distal Deletion 10Q	Wide nasal bridge, Acute kidney injury, Inferior cerebellar vermis hypoplasia, Functional abnorma...	ORPHA:96148
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Choanal atresia, Chiari malformation, Turricephaly, Brachycephaly, Aplasia/Hypoplasia of the cere...	ORPHA:93262
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Metaphyseal Dysplasia Without Hypotrichosis	Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Cone-shaped epiphyses...	OMIM:250460
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Elevated hemoglobin A1c, Lateral ventricle dilatation	OMIM:619278
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Renal tubular cyst, Glycosuria, Elevated circulating creatinine concentration, ...	OMIM:614817
Gillessen-Kaesbach-Nishimura Syndrome	Underdeveloped nasal alae, Brachycephaly, Convex nasal ridge, Bicornuate uterus, Polycystic kidne...	OMIM:263210
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Ventriculomegaly, Depressed nasal bridge, Hypoplasia of the brainst...	OMIM:616546
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Cerebellar vermis hypoplasia, Nephrotic syndrome, Proximal tubulopathy, Cerebell...	OMIM:212065
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Brachycephaly, Ventriculomegaly, Plagiocephaly, Agenesis of corpus callosum	OMIM:618603
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Small scrotum, Coronal craniosynostosis, Depressed nasal bridge, Underdeveloped nasal alae, Hypog...	ORPHA:228390
Even-Plus Syndrome	Depressed nasal ridge, Renal hypoplasia, Bifid nasal tip, Recurrent urinary tract infections, Ves...	OMIM:616854
Kleeblattschaedel	Craniosynostosis, Hydrocephalus, Cloverleaf skull	OMIM:148800
Holoprosencephaly 14	Ventriculomegaly, Alobar holoprosencephaly, Cerebellar atrophy, Proboscis, Anteverted nares, Hydr...	OMIM:619895
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Ventriculomegaly, Cryptorchidism, Cerebellar hypoplasia, Ectopic kidney, Cystic renal dysplasia	OMIM:613730
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Chronic kidney disease, Ventriculomegaly, Lateral ventricle dilatation, Decreased glomerular filt...	ORPHA:488627
Ataxia-Telangiectasia-Like Disorder	Cerebellar vermis hypoplasia, Dilated fourth ventricle, Cerebellar atrophy, Hypergonadotropic hyp...	ORPHA:251347
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Cerebellar vermis hypoplasia, Ventriculomegaly, Extra-axial cerebrospinal fluid accumulation, Lat...	OMIM:618291
Recombinant Chromosome 8 Syndrome	Depressed nasal bridge, Ventriculomegaly, Anteverted nares, Cryptorchidism, Hydronephrosis, Brach...	OMIM:179613
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Dilated third ventricle	OMIM:619725
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Parathyroid carcinoma, Pancreatic adenocarcinoma, Hypercalcemia, Papillary r...	OMIM:145001
Congenital Muscular Dystrophy, Fukuyama Type	Ventriculomegaly, Plagiocephaly, Brachycephaly, Hydrocephalus, Dolichocephaly	ORPHA:272
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Precocious puberty, Wide nasal bridge, Ventriculomegaly, Bulbous nose, Anteverted nares, Brachyce...	OMIM:300958
Pettigrew Syndrome	Cerebellar vermis hypoplasia, Ventriculomegaly, Prominent nose, Thickened calvaria, Hydrocephalus...	OMIM:304340
Weiss-Kruszka Syndrome	Decreased response to growth hormone stimulation test, Cryptorchidism, Dysplastic corpus callosum...	ORPHA:502430
Joubert Syndrome 5	Nephronophthisis, Occipital encephalocele, Reduced renal corticomedullary differentiation, Stage ...	OMIM:610188
Aicardi-Goutieres Syndrome 9	Thickened glomerular basement membrane, Hypoalbuminemia, Lateral ventricle dilatation, Recurrent ...	OMIM:619487
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th...	OMIM:612447
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Small pituitary gland, Dysgenesis of...	OMIM:619479
Spermatogenic Failure 38	Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella...	OMIM:618433
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Cerebellar vermis hypoplasia, Ventriculomegaly, Thick nasal alae, Abnormal brainstem morphology, ...	ORPHA:163961
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia, Dandy-Walker malformation	ORPHA:3032
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Crouzon Syndrome	Choanal atresia, Chiari malformation, Multiple suture craniosynostosis, Turricephaly, Cerebellar ...	ORPHA:207
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Overgrowth of external genitalia, Adrenocortical cytome...	OMIM:130650
Angioma Serpiginosum, X-Linked	Sparse hair, Nail dystrophy, Fine hair	OMIM:300652
Joubert Syndrome 2	Depressed nasal bridge, Enlarged fossa interpeduncularis, Nephronophthisis, Dysgenesis of the cer...	OMIM:608091
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Zaki Syndrome	Wide nasal bridge, Cerebellar vermis hypoplasia, Renal agenesis, Dilated fourth ventricle, Anteve...	OMIM:619648
Peho-Like Syndrome	Ventriculomegaly, Cerebellar atrophy, Short nose	OMIM:617507
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki...	OMIM:618270
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Hyperechogenic kidneys, Hypomagnesemia, Pancytopenia, Leukopenia, Hyperur...	OMIM:613845
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact...	ORPHA:2756
Crandall Syndrome	Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebro...	ORPHA:202
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Monilethrix	Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma...	ORPHA:573
Ritscher-Schinzel Syndrome 1	Depressed nasal bridge, Decreased response to growth hormone stimulation test, Prominent occiput,...	OMIM:220210
Meckel Syndrome, Type 1	Chiari malformation, Occipital encephalocele, Abnormality of the ureter, Cryptorchidism, Agenesis...	OMIM:249000
Spermatogenic Failure 6	Decreased acrosin in sperm head, Globozoospermia, Male infertility	OMIM:102530
Neurooculorenal Syndrome	Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Ventriculomegaly, Unilateral renal age...	OMIM:620305
Ciliary Dyskinesia, Primary, 50	Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit...	OMIM:620356
Monilethrix	Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair	OMIM:158000
Spermatogenic Failure 75	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619949
Masa Syndrome	Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:303350
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Small scrotum, Ventriculomegaly, Underdeveloped nasal alae, Prominent nasal bridge, Cryptorchidis...	ORPHA:2083
Spermatogenic Failure 44	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Wide nasal bridge, Hydranencephaly, Dilated third ventricle, Lateral ventricle dilatation, Bulbou...	OMIM:620371
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Dolichocephaly, Multicystic kidney dysplasia, Prominent nasal bridge, Prominent nose	ORPHA:3270
Pierpont Syndrome	Broad nasal tip, Chiari malformation, Cryptorchidism, Brachycephaly, Micropenis, Short nose, Wide...	OMIM:602342
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the brainstem	ORPHA:250972
Hanac Syndrome	Hematuria, Multiple renal cysts, Renal insufficiency	ORPHA:73229
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Micropenis, Hyperalaninemia, Lateral ventricle dilatation, Cryptorchidism	OMIM:619847
Cornelia De Lange Syndrome 2	Brachycephaly, Ventriculomegaly, Prominent nasal bridge, Anteverted nares	OMIM:300590
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Endove Syndrome, Limb-Only Type	Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o...	OMIM:619217
Phelan-Mcdermid Syndrome	Wide nasal bridge, Ventriculomegaly, Bulbous nose, Vesicoureteral reflux, Abnormality of the kidn...	OMIM:606232
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Dilated third ventricle, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Urinar...	ORPHA:314404
Spinocerebellar Ataxia, Autosomal Recessive 33	Cerebellar hypoplasia, Dilated fourth ventricle	OMIM:620208
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Joubert Syndrome 18	Occipital encephalocele, Horseshoe kidney, Agenesis of corpus callosum, Renal cyst, Molar tooth s...	OMIM:614815
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Wide nasal bridge, Increased CSF protein concentration, Ventriculomegaly, Agenesis of corpus call...	OMIM:218000
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm...	ORPHA:3344
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Fatty Acyl-Coa Reductase 1 Deficiency	Depressed nasal bridge, Cerebellar atrophy, Dandy-Walker malformation, Short nose	ORPHA:438178
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Varicocele, Acute kidney injury, Dysuria, Elevated circulating creatinine conc...	ORPHA:49041
Acromelic Frontonasal Dysplasia	Bifid nasal tip, Ventriculomegaly, Broad nasal tip, Thick nasal alae, Hypopituitarism, Encephaloc...	ORPHA:1827
Orofaciodigital Syndrome Type 14	Dilated third ventricle, Bilateral cryptorchidism, Trigonocephaly, Dilated fourth ventricle, Bulb...	ORPHA:434179
Biemond Syndrome Type 2	Hypogonadism, Hypogonadotropic hypogonadism, Delayed puberty, Hydrocephalus, Hypospadias	ORPHA:141333
Bainbridge-Ropers Syndrome	Precocious puberty, Wide nasal bridge, Inferior cerebellar vermis hypoplasia, Broad nasal tip, De...	OMIM:615485
Bilateral Generalized Polymicrogyria	Lateral ventricle dilatation	ORPHA:208447
Pfeiffer Syndrome Type 2	Choanal atresia, Depressed nasal bridge, Chiari malformation, Cloverleaf skull, Hydrocephalus, Aq...	ORPHA:93259
Dworschak-Punetha Neurodevelopmental Syndrome	Depressed nasal bridge, Unilateral renal hypoplasia, Vesicoureteral reflux, Agenesis of corpus ca...	OMIM:619955
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Depressed nasal bridge, Hyposegmentation of neutrophil nuclei, Lateral ventricle dilatation	OMIM:620075
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Ectodermal Dysplasia, Trichoodontoonychial Type	Sparse body hair, Abnormal toenail morphology, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelas...	ORPHA:1818
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Elevated circulating alpha-aminoadipic semialdehyde concentration, Hydrocephalus, Elevated circul...	OMIM:266100
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Wide nasal bridge, Frontal bossing, Molar tooth sign on MRI, Agenesis of corpus callosum	ORPHA:166024
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hypospadias, Galactosuria, Hypermethioninemia, Increased circulating iron concen...	OMIM:222470
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Depressed nasal bridge, Abnormal localization of kidney, Abnormal nasal morphology, Hydrocephalus	ORPHA:83473
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating iron concentration, Increased circulating ferritin concentration, Hypogonad...	ORPHA:300298
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Plagiocephaly, Hypoplasia of the pons, Bulbous nose, Cryptorchidism, Fetal pyelectasis, Cerebella...	OMIM:619512
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val...	OMIM:600785
Glutaric Acidemia I	Hydrocephalus, Ketonuria, Lateral ventricle dilatation, Glutaric aciduria	OMIM:231670
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Renal hypoplasia, Lateral ventricle dilatation	OMIM:618914
Pontocerebellar Hypoplasia, Type 3	Depressed nasal bridge, Cerebellar atrophy, Hypoplasia of the pons, Hypoplasia of the brainstem, ...	OMIM:608027
Meckel Syndrome, Type 4	Encephalocele, Renal cyst, Hydrocephalus, Molar tooth sign on MRI, Meningocele, Agenesis of cereb...	OMIM:611134
Craniotelencephalic Dysplasia	Agenesis of corpus callosum, Cerebellar hypoplasia, Hydrocephalus, Frontal encephalocele, Cranios...	ORPHA:1528
Wars2-Related Combined Oxidative Phosphorylation Defect	Wide nasal bridge, Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebellar atrophy, Lateral ve...	ORPHA:572798
Microcephaly-Microcornea Syndrome, Seemanova Type	Hypogonadism, Brachycephaly	ORPHA:2528
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Cerebellar vermis atrophy, Dilated fourth ventricle, Cerebellar atrophy	ORPHA:1170
Chromosome 2P16.1-P15 Deletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Recurrent upper respiratory tract in...	OMIM:612513
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Woolly Hair	Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality...	ORPHA:170
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Accessory spleen, Cerebellar vermis hypoplasia, Wide nasal bridge, Hypoplasia of the brainstem, F...	OMIM:619306
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Clitoral hypertrophy, Cryptorchidism, Turricephaly, Hypoplasia of the thymus, Elev...	OMIM:214110
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Anteverted nares, Hypospadias, Short nose	ORPHA:1355
Pallister-Hall-Like Syndrome	Depressed nasal bridge, Occipital encephalocele, Anterior hypopituitarism, Chiari type I malforma...	OMIM:241800
Aicardi Syndrome	Precocious puberty, Cerebellar vermis hypoplasia, Dilated third ventricle, Chiari malformation, L...	OMIM:304050
Chromosome 3Pter-P25 Deletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Trigonocephaly, Bulbous nose, Antever...	OMIM:613792
L1 Syndrome	Aqueductal stenosis, Hydrocephalus	ORPHA:275543
Brain Malformations With Or Without Urinary Tract Defects	Renal hypoplasia, Ventriculomegaly, Anteverted nares, Vesicoureteral reflux, Agenesis of corpus c...	OMIM:613735
Chromosome 6Q24-Q25 Deletion Syndrome	Lateral ventricle dilatation, Anteverted nares, Agenesis of corpus callosum, Hydrocephalus, Dolic...	OMIM:612863
Acrofacial Dysostosis, Rodríguez Type	Aqueductal stenosis, Prominent nasal bridge, Renal hypoplasia/aplasia	ORPHA:1788
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Calcium oxalate nephrolithiasis, Dolichocephaly, Scaphocephaly, Hydrocephalus	OMIM:248000
Trisomy 1Q	Small scrotum, Ventriculomegaly, Multicystic kidney dysplasia, Depressed nasal bridge, Cryptorchi...	ORPHA:261344
Intellectual Developmental Disorder, Autosomal Dominant 56	Lateral ventricle dilatation, Pontocerebellar atrophy	OMIM:617854
Fried Syndrome	Thickened calvaria, Abnormal cerebellum morphology, Hydrocephalus	ORPHA:85335
Hair Defect With Photosensitivity And Impaired Intellectual Development	Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair	OMIM:234030
Bardet-Biedl Syndrome 8	Hypogonadism, Brachycephaly, Hypospadias, Renal dysplasia	OMIM:615985
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Hydranencephaly, Hypoplasia of the brainstem, Ureteral agenesis, Bulbous nose, ...	OMIM:236500
Smith-Magenis Syndrome	Precocious puberty, Wide nasal bridge, Ventriculomegaly, Depressed nasal bridge, Abnormality of t...	ORPHA:819
Aicardi-Goutieres Syndrome 4	Ventriculomegaly, Cerebellar atrophy, Pancytopenia, Hepatosplenomegaly, Splenomegaly, CSF lymphoc...	OMIM:610333
Syndromic X-Linked Intellectual Disability 7	Micropenis, Hypoplasia of penis, Sparse body hair	ORPHA:85274
Stuve-Wiedemann Syndrome 1	Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bones, Hypoplasti...	OMIM:601559
Combined Oxidative Phosphorylation Defect Type 39	Lateral ventricle dilatation, Increased CSF lactate, Abnormal cerebellum morphology, Cryptorchidi...	ORPHA:565624
Coach Syndrome 2	Cerebellar vermis hypoplasia, Hyperechogenic kidneys, Agenesis of corpus callosum, Hydrocephalus,...	OMIM:619111
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Wide nasal bridge, Broad nasal tip, Plagiocephaly, Hypoplasia of the pons, Hypoplasia of the brai...	OMIM:300749
Kondoh Syndrome	Sparse hair, Thick eyebrow, Widow's peak	OMIM:606242
Orofaciodigital Syndrome I	Wide nasal bridge, Underdeveloped nasal alae, Frontal bossing, Myelomeningocele, Hepatic cysts, O...	OMIM:311200
Oliver-Mcfarlane Syndrome	Alopecia, Long eyelashes, Long eyebrows, Hypoplasia of penis, Sparse hair	OMIM:275400
Ectodermal Dysplasia 9, Hair/Nail Type	Abnormal sweat gland morphology, Abnormal sebaceous gland morphology, Atrichia, Absent hair, Nail...	OMIM:614931
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612925
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ...	ORPHA:1986
Acrofacial Dysostosis Syndrome Of Rodriguez	Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular...	OMIM:201170
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Wide nasal bridge, Hyperechogenic kidneys, Lymphopenia, Leukopenia, Elevated circulating creatini...	OMIM:301110
Greig Cephalopolysyndactyly Syndrome	Wide nasal bridge, Abnormal calvaria morphology, Ventriculomegaly, Frontal bossing, Trigonocephal...	OMIM:175700
Hydrolethalus Syndrome 2	Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Molar tooth sign on MRI, Anencephaly	OMIM:614120
Acrocephalopolydactyly	Depressed nasal ridge, Oxycephaly, Hepatosplenomegaly, Abnormal renal morphology, Short nose	ORPHA:221054
Joubert Syndrome 35	Renal fibrosis, Cerebellar vermis hypoplasia, Multicystic kidney dysplasia, Depressed nasal bridg...	OMIM:618161
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Smith-Magenis Syndrome	Wide nasal bridge, Ventriculomegaly, Abnormality of the urinary system, Abnormality of the thyroi...	OMIM:182290
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal pelvic girdle bone morphology, Reduced bone mineral density, Abnormal metacarpal morphol...	ORPHA:2370
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Nephropathy, Focal segmental glomerulosclerosis, Chronic kidney disease, Elevated circulating cre...	OMIM:617056
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydranencephaly, Cerebellar agenesis, Cerebellar hypoplasia, Hydrocephalus, Hol...	OMIM:617967
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Cerebellar hypoplasia, Colpocephaly, Plagiocephaly, Anteverted nares	OMIM:618731
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Woolly hair, Sparse hair	OMIM:278200
Microcephaly 26, Primary, Autosomal Dominant	Wide nasal bridge, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Trigonocephaly...	OMIM:619179
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Cerebellar vermis hypoplasia, Plagiocephaly, Lateral ventricle dilatation, Abnormal thalamus morp...	ORPHA:300570
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612926
Gabriele-De Vries Syndrome	Broad nasal tip, Lateral ventricle dilatation, Ureteropelvic junction obstruction, Cryptorchidism...	OMIM:617557
Kleefstra Syndrome Due To 9Q34 Microdeletion	Ventriculomegaly, Anteverted nares, Renal insufficiency, Cryptorchidism, Vesicoureteral reflux, A...	ORPHA:96147
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Hypotrichosis 9	Sparse eyebrow, Sparse body hair, Abnormal eyelash morphology, Abnormality of the nail, Sparse sc...	OMIM:614237
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Wide nasal bridge, Ventriculomegaly, Anteverted nares, Hydronephrosis, Cerebellar hypoplasia, Bra...	OMIM:616897
Corpus Callosum, Partial Agenesis Of, X-Linked	Ventriculomegaly, Inferior cerebellar vermis hypoplasia, Cerebellar hypoplasia, Hydrocephalus, Pa...	OMIM:304100
Cebalid Syndrome	Depressed nasal bridge, Depressed nasal ridge, Plagiocephaly, Platystencephaly, Anteverted nares,...	OMIM:618774
Ritscher-Schinzel Syndrome 4	Wide nasal bridge, Plagiocephaly, Cryptorchidism, Agenesis of corpus callosum, Cerebellar hypopla...	OMIM:619435
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Inc...	ORPHA:3202
Greig Cephalopolysyndactyly Syndrome	Wide nasal bridge, Agenesis of corpus callosum, Hydrocephalus, Craniosynostosis, Frontal bossing	ORPHA:380
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Brachycephaly, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:109120
Bent Bone Dysplasia Syndrome 2	Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Fe...	OMIM:620076
Peroxisomal Acyl-Coa Oxidase Deficiency	Wide nasal bridge, Depressed nasal bridge, Brachycephaly, Frontal bossing	OMIM:264470
Coxopodopatellar Syndrome	Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Aplasia/Hypoplasia of the ...	ORPHA:1509
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Wide nasal bridge, Underdeveloped nasal alae, Dolichocephaly, Hydrocephalus, Craniosynostosis, Fr...	ORPHA:1516
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Brachycephaly, Ambiguous genitalia, P...	OMIM:263520
Orofaciodigital Syndrome Ix	Toe syndactyly, Short tibia, Retinal coloboma, Hand polydactyly, Camptodactyly	OMIM:258865
Isochromosomy Yq	Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen...	ORPHA:98798
2,4-Dienoyl-Coa Reductase Deficiency	Ventriculomegaly, Hyperlysinuria, Cerebellar atrophy, Increased CSF lactate, Elevated circulating...	OMIM:616034
Frontal Encephalocele	Calvarial skull defect, Encephalocele, Hydrocephalus, Spina bifida, Dolichocephaly	ORPHA:1931
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Unilateral renal agenesis, Depressed nasal bridge, Crossed fused renal ectopia, Agenesis of corpu...	OMIM:618142
Palmoplantar Keratoderma And Woolly Hair	Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly hair, Sparse scalp hair	OMIM:616099
Tooth Agenesis, Selective, 8	Sparse eyebrow, Sparse hair	OMIM:617073
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Elevated circulating creatinine concentration, Stage 5 chroni...	OMIM:613095
Giant Axonal Neuropathy 1, Autosomal Recessive	Abnormal cerebellum morphology, Lateral ventricle dilatation	OMIM:256850
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Plagiocephaly, Lateral ventricle dilatation, Dolichocephaly, Frontal bossing, Short nose	ORPHA:457279
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati...	OMIM:618061
Functioning Gonadotropic Adenoma	Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f...	ORPHA:91348
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612924
Inverted Duplicated Chromosome 15 Syndrome	Precocious puberty, Unilateral renal agenesis, Broad nasal tip, Gonadal dysgenesis, Hypogonadism,...	ORPHA:3306
Joubert Syndrome 30	Ventriculomegaly, Cerebellar atrophy, Agenesis of corpus callosum, Molar tooth sign on MRI, Super...	OMIM:617622
Ectodermal Dysplasia 4, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys...	OMIM:602032
Lathosterolosis	Elevated circulating lathosterol concentration, Horseshoe kidney, Chiari type II malformation, An...	OMIM:607330
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Nephrocalcinosis, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochrom...	OMIM:616084
Aredyld	Generalized hypotrichosis	OMIM:207780
Coach Syndrome 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Renal interstitial fibrosi...	OMIM:619113
Houge-Janssens Syndrome 2	Unilateral renal agenesis, Ventriculomegaly, Plagiocephaly, Anteverted nares, Agenesis of corpus ...	OMIM:616362
Lathosterolosis	Chiari malformation, Horseshoe kidney, Bulbous nose, Anteverted nares, Abnormal platelet morpholo...	ORPHA:46059
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar dysplasia, Cere...	OMIM:613153
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Cerebellar hypoplasia, Ventriculomegaly, Hydrocephalus	OMIM:614830
Paternal Uniparental Disomy Of Chromosome 1	Proteinuria, Delayed puberty, Episodic hemolytic anemia, Macroscopic hematuria, Membranoprolifera...	ORPHA:251004
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Ventriculomegaly, Short nose	ORPHA:1495
Autosomal Recessive Spastic Paraplegia Type 66	Cerebellar hypoplasia, Colpocephaly	ORPHA:401815
Thomas Syndrome	Dolichocephaly, Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3316
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ...	OMIM:263200
Joubert Syndrome 4	Cerebellar vermis hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficien...	OMIM:609583
Joubert Syndrome 14	Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Prominent nasal bridge, Encephalocele,...	OMIM:614424
Developmental And Epileptic Encephalopathy 36	Anteverted nares, Hydrocephalus	OMIM:300884
19P13.12 Microdeletion Syndrome	Precocious puberty, Ventriculomegaly, Aplasia/Hypoplasia of the cerebellar vermis, Narrow nasal b...	ORPHA:254346
Cleidocranial Dysplasia, Recessive Form	Brachycephaly	OMIM:216330
Acrodysostosis 1 With Or Without Hormone Resistance	Irregular menstruation, Unilateral renal agenesis, Depressed nasal bridge, Broad nasal tip, Eleva...	OMIM:101800
Prader-Willi Syndrome Due To Translocation	Broad nasal tip, Lateral ventricle dilatation, Decreased response to growth hormone stimulation t...	ORPHA:177907
Craniosynostosis, Herrmann-Opitz Type	Abnormality of the urethra, Turricephaly, Abnormality of the upper urinary tract, Brachycephaly, ...	ORPHA:2145
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Intellectual Developmental Disorder, Autosomal Dominant 23	Wide nasal bridge, Depressed nasal bridge, Bulbous nose, Anteverted nares, Brachycephaly, Hypospa...	OMIM:615761
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Ventriculomegaly, Decreased response to growth hormone stimulation test, Agenesis of corpus callo...	OMIM:617260
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	Brachycephaly	ORPHA:404493
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ...	OMIM:224120
Hyperparathyroidism, Transient Neonatal	Wide nasal bridge, Unilateral renal agenesis, Ventriculomegaly, Depressed nasal bridge, Anteverte...	OMIM:618188
Nephronophthisis 18	Thickened glomerular basement membrane, Nephronophthisis, Stage 5 chronic kidney disease, Hydroce...	OMIM:615862
Joubert Syndrome 7	Nephronophthisis, Hypoplasia of the brainstem, Brainstem dysplasia, Stage 5 chronic kidney diseas...	OMIM:611560
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Sparse eyebrow, Fine hair, Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse hair	OMIM:129490
Laurin-Sandrow Syndrome	Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,...	OMIM:135750
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Lambdoidal craniosynostosis, Coronal craniosynostosis, Choanal atresia, Depressed nasal bridge, A...	OMIM:207410
5Q14.3 Microdeletion Syndrome	Agenesis of cerebellar vermis, Ventriculomegaly, Anteverted nares, Short nose	ORPHA:228384
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Craniofrontonasal Dysplasia	Wide nasal bridge, Depressed nasal ridge, Plagiocephaly, Frontal bossing, Midline defect of the n...	ORPHA:1520
Multiple Acyl-Coa Dehydrogenase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Elevated circulating acylcarnitine concentration, D...	ORPHA:26791
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Depressed nasal bridge, Ventriculomegaly, Nephroblastoma, Hydrocephalus, Leukemia	OMIM:602501
Warburg Micro Syndrome 3	Small scrotum, Ventriculomegaly, Decreased testicular size, Brachycephaly, Micropenis, Hypoplasti...	OMIM:614222
Clark-Baraitser Syndrome	Depressed nasal bridge, Anteverted nares, Brachycephaly, Dolichocephaly, Low hanging columella, S...	OMIM:617752
Laurence-Moon Syndrome	Type II diabetes mellitus, Cryptorchidism, Renal insufficiency, Displacement of the urethral meat...	ORPHA:2377
Renal-Hepatic-Pancreatic Dysplasia 1	Polysplenia, Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency, Splenomegaly, ...	OMIM:208540
Hypotrichosis 6	Sparse eyebrow, Sparse eyelashes, Pili torti, Brittle hair, Sparse hair	OMIM:607903
Spermatogenic Failure 15	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:616950
Bresek Syndrome	Renal hypoplasia, Plagiocephaly, Hypoplasia of the bladder, Decreased testicular size, Vesicouret...	ORPHA:85284
Khan-Khan-Katsanis Syndrome	Cerebellar vermis hypoplasia, Ventriculomegaly, Renal hypoplasia, Lymphopenia, Vesicoureteral ref...	OMIM:618460
17Q21.31 Microduplication Syndrome	Anteverted nares, Delayed puberty, Short nose	ORPHA:217340
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Short tibia, Sandal gap, Short humerus, Short ribs, Talipes equinovarus, Retinal deta...	OMIM:607143
47,Xyy Syndrome	Varicocele, Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Azoospermia, Abnormal brai...	ORPHA:8
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility	OMIM:301060
Kleefstra Syndrome	Ventriculomegaly, Supernumerary nipple, Anteverted nares, Renal insufficiency, Cryptorchidism, Ve...	ORPHA:261494
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis...	OMIM:274150
Noonan Syndrome 14	Lateral ventricle dilatation, Lymphopenia, Prominent nasal bridge, Cryptorchidism, Prominent naso...	OMIM:619745
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Hematuria, Elevated circulating C-reactive pr...	ORPHA:231111
Spermatogenic Failure 2	Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia	OMIM:108420
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:235400
Baraitser-Winter Syndrome 1	Wide nasal bridge, Ventriculomegaly, Trigonocephaly, Anteverted nares, Cryptorchidism, Agenesis o...	OMIM:243310
Joubert Syndrome 1	Nephropathy, Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Dysgenesis of the ce...	OMIM:213300
Galloway-Mowat Syndrome	Nephropathy, Aqueductal stenosis, Nephrotic syndrome, Proteinuria	ORPHA:2065
Microphthalmia With Limb Anomalies	Toe syndactyly, Postaxial foot polydactyly, Short tibia, Synostosis of carpal bones, Finger synda...	ORPHA:1106
Gomez-Lopez-Hernandez Syndrome	Cerebellar vermis hypoplasia, Skull asymmetry, Decreased response to growth hormone stimulation t...	OMIM:601853
Hypotrichosis 12	Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ...	OMIM:615885
Witkop Syndrome	Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,...	OMIM:189500
Acalvaria	Calvarial skull defect, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Spina bifida, Holopr...	ORPHA:945
Spinocerebellar Ataxia 2	Cerebellar atrophy, Urinary bladder sphincter dysfunction, Dilated fourth ventricle, Olivopontoce...	OMIM:183090
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Precocious puberty, Cerebellar vermis hypoplasia, Wide nasal bridge, Depressed nasal bridge, Narr...	OMIM:620073
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Chiari type I malformation, Brachycephaly, Anteverted nares	OMIM:618859
Ciliary Dyskinesia, Primary, 51	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo...	OMIM:620438
Hawkinsinuria	Sparse hair, 4-Hydroxyphenylpyruvic aciduria, 4-hydroxyphenylacetic aciduria, Fine hair	ORPHA:2118
49,Xxxxy Syndrome	Small scrotum, Depressed nasal ridge, Depressed nasal bridge, Hypogonadism, Decreased testicular ...	ORPHA:96264
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ...	ORPHA:261529
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Mesomelic Dysplasia, Savarirayan Type	High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata...	ORPHA:85170
Lig4 Syndrome	Wide nasal bridge, Pancytopenia, Prominent nose, Type II diabetes mellitus, Cryptorchidism, Ameno...	OMIM:606593
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Neonatal hyperbilirubinemia, Frontal bossing, Abnormal erythrocyt...	ORPHA:288
Machado-Joseph Disease Type 1	Dilated fourth ventricle, Neurogenic bladder, Cerebellar atrophy, Substantia nigra gliosis	ORPHA:276238
Machado-Joseph Disease Type 2	Dilated fourth ventricle, Neurogenic bladder, Cerebellar atrophy, Substantia nigra gliosis	ORPHA:276241
Chromosome 5P13 Duplication Syndrome	Wide nasal bridge, Bulbous nose, Vesicoureteral reflux, Agenesis of corpus callosum, Turricephaly...	OMIM:613174
8P11.2 Deletion Syndrome	Anosmia, Depressed nasal bridge, Hypogonadism, Azoospermia, Splenomegaly, Cryptorchidism, Hypogon...	ORPHA:251066
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Wide nasal bridge, Ventriculomegaly, Prominent nasal bridge, Cryptorchidism, Brachycephaly, Flat ...	OMIM:617452
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Micrognathia,...	ORPHA:166016
Microcephaly-Micromelia Syndrome	Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi...	OMIM:251230
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Choanal atresia, Depressed nasal bridge, Pancreatic hypoplasia, Elevated circulating thyroid-stim...	OMIM:610199
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Renal hypoplasia, Renal cyst, Dolichocephaly, Polycystic kidney dysplasia	OMIM:614091
Trichodental Dysplasia	Sparse hair, Slow-growing hair, Fine hair, Brittle hair	OMIM:601453
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgG level, Lateral ventricle dilatation, Decreased circulating IgA level, S...	OMIM:612301
Alkuraya-Kucinskas Syndrome	Small scrotum, Ventriculomegaly, Plagiocephaly, Depressed nasal bridge, Hypoplasia of the brainst...	OMIM:617822
Schopf-Schulz-Passarge Syndrome	Small nail, Poroma, Sparse body hair, Apocrine hidrocystoma, Ridged nail, Narrow nail, Nail dystr...	OMIM:224750
Orthostatic Hypotension 1	Hypomagnesemia, Nasal congestion, Retrograde ejaculation, Increased blood urea nitrogen, Nocturia...	OMIM:223360
Dopamine Beta-Hydroxylase Deficiency	Elevated urinary dopamine level, Elevated circulating creatinine concentration, Hyperinsulinemia,...	ORPHA:230
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno...	ORPHA:3329
2P15P16.1 Microdeletion Syndrome	Wide nasal bridge, Ventriculomegaly, Multicystic kidney dysplasia, Supernumerary nipple, Hypogona...	ORPHA:261349
Rhombencephalosynapsis	Ventriculomegaly, Fusion of the left and right thalami, Fusion of the cerebellar hemispheres, Ant...	ORPHA:59315
Trichothiodystrophy 9, Nonphotosensitive	Sparse hair, Sparse eyebrow, Tiger tail banding, Nail dystrophy	OMIM:619692
Orofaciodigital Syndrome Iv	Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han...	OMIM:258860
X-Linked Intellectual Disability, Cantagrel Type	Ventriculomegaly, Shawl scrotum, Short nose	ORPHA:85277
6Q25 Microdeletion Syndrome	Wide nasal bridge, Ventriculomegaly, Plagiocephaly, External genital hypoplasia, Agenesis of corp...	ORPHA:251056
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Wide nasal bridge, Ventriculomegaly, Broad nasal tip, Plagiocephaly, Vesicoureteral reflux, Anter...	OMIM:614749
Joubert Syndrome 9	Ventriculomegaly, Stage 5 chronic kidney disease, Encephalocele, Molar tooth sign on MRI	OMIM:612285
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Depressed nasal bridge, Decreased response to growth hormone stimulation test, Hypercalcemia, Cry...	OMIM:614732
Ogden Syndrome	Flared nostrils, Hyperbilirubinemia, Cryptorchidism, Polycystic kidney dysplasia, Short nose, Pol...	OMIM:300855
Joubert Syndrome 39	Cerebellar vermis hypoplasia, Polycystic kidney dysplasia, Occipital encephalocele, Molar tooth s...	OMIM:619562
Focal Facial Dermal Dysplasia Type I	Sparse lateral eyebrow, Low anterior hairline, Absent eyelashes, Distichiasis, Sparse hair	ORPHA:79133
Frontonasal Dysplasia 2	Wide nasal bridge, Cerebellar vermis hypoplasia, Depressed nasal ridge, Bifid nasal tip, Depresse...	OMIM:613451
Temple Syndrome	Precocious puberty, Depressed nasal bridge, Maturity-onset diabetes of the young, Decreased testi...	OMIM:616222
Joubert Syndrome With Renal Defect	Nephropathy, Cerebellar vermis hypoplasia, Anteverted nares, Prominent nasal bridge, Renal insuff...	ORPHA:220497
Perlman Syndrome	Wide nasal bridge, Abnormal pancreas morphology, Hyperinsulinemia, Anteverted nares, Cryptorchidi...	ORPHA:2849
Edinburgh Malformation Syndrome	Choanal atresia, Anteverted nares, Hydrocephalus, Frontal bossing, Short nose	ORPHA:1895
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Elevated circulating luteinizing hormone level, Chiari malformation, Dilatation of the renal pelv...	ORPHA:95699
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia	OMIM:620085
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Onychogryposis of fingernail, Alopecia, Ridged fingernail, Fingernail dysplasia, Sparse hair	ORPHA:2251
Joubert Syndrome 13	Cerebellar vermis hypoplasia, Molar tooth sign on MRI	OMIM:614173
Joubert Syndrome 37	Wide nasal bridge, Cerebellar vermis hypoplasia, Decreased testicular size, Anteverted nares, Cry...	OMIM:619185
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Thickened calvaria, Craniosynostosis, Brachycephaly	ORPHA:178377
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Abnormality of the ankle, Abnormal epiphysis morphology, Abnormal hip bone m...	ORPHA:970
Jeune Syndrome	Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
8Q12 Microduplication Syndrome	Wide nasal bridge, Brachycephaly, Vesicoureteral reflux	ORPHA:228399
Beta-Thalassemia Major	Depressed nasal bridge, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemogl...	ORPHA:231214
Meckel Syndrome 14	Occipital encephalocele, Anteverted nares, Decreased calvarial ossification, Aplasia of the uteru...	OMIM:619879
Meckel Syndrome, Type 3	Multicystic kidney dysplasia, Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Choroidal Atrophy-Alopecia Syndrome	Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Bifid nail, T...	ORPHA:1433
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Micropenis, Alopecia, Sparse hair, Long eyelashes	ORPHA:3363
Odontochondrodysplasia 1	Nephronophthisis, Polycystic kidney dysplasia	OMIM:184260
Bazex-Dupré-Christol Syndrome	Sparse eyebrow, Coarse hair, Trichorrhexis nodosa, Sparse or absent eyelashes, Pili torti, Sparse...	ORPHA:113
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts	OMIM:173900
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas...	ORPHA:52901
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Ventriculomegaly, Plagiocephaly, Hypoplasia of the brainstem, Cerebellar dysplasia, Anteverted na...	ORPHA:500159
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Anteverted nares, Short nose	ORPHA:2015
Diencephalic Syndrome	Abnormality of the hypothalamus-pituitary axis, Long penis, Hydrocephalus	ORPHA:1672
Thanatophoric Dysplasia Type 2	Depressed nasal bridge, Ventriculomegaly, Encephalocele, Hydrocephalus, Abnormality of the kidney...	ORPHA:93274
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia, Polysplenia	OMIM:211890
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Lambdoidal craniosynostosis, Depressed nasal bridge, Nephrocalcinosis, Hydroureter, Cerebellar at...	OMIM:615398
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shortening, Short met...	OMIM:268305
Weaver Syndrome	Depressed nasal bridge, Ventriculomegaly, Lateral ventricle dilatation, Cryptorchidism, Cerebella...	OMIM:277590
Kleefstra Syndrome Due To A Point Mutation	Precocious puberty, Ventriculomegaly, Plagiocephaly, Vesicoureteral reflux, Cerebellar hypoplasia...	ORPHA:261652
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Hepatic cysts	OMIM:600666
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Cerebellar hypoplasia, Occipital encephalocele, Hydrocephalus, Hypoplasia of the brainstem	ORPHA:352682
Congenital Dyserythropoietic Anemia Type Iii	Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron...	ORPHA:98870
Indomethacin Embryofetopathy	Nephropathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency	ORPHA:1909
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventriculomegaly, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis...	OMIM:618278
Joubert Syndrome 31	Ventriculomegaly, Molar tooth sign on MRI	OMIM:617761
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Wide nasal bridge, Cerebellar vermis hypoplasia, Ventriculomegaly, Extra-axial cerebrospinal flui...	OMIM:619383
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Slender nose, Brachycephaly, Cryptorchidism, Short nose	OMIM:615419
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal...	OMIM:609945
Joubert Syndrome 20	Renal cyst, Molar tooth sign on MRI	OMIM:614970
Machado-Joseph Disease	Dilated fourth ventricle, Cerebellar atrophy, Urinary bladder sphincter dysfunction	OMIM:109150
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Non-Syndromic Bicoronal Craniosynostosis	Brachycephaly	ORPHA:35099
Apert Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Ventriculomegaly, Choanal atresia, Depress...	OMIM:101200
Cataract-Intellectual Disability-Hypogonadism Syndrome	Depressed nasal bridge, Hypogonadotropic hypogonadism, Brachycephaly, Cryptorchidism	ORPHA:1387
Intellectual Developmental Disorder, X-Linked 30	Anteverted nares, Prominent nasal bridge, Hydrocephalus, Short nose	OMIM:300558
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Ventriculomegaly, Flat occiput, Prominent nasal bridge, Cryptorchidism, Brachycephaly, Wide nose	ORPHA:505237
Rothmund-Thomson Syndrome, Type 1	Nail dystrophy, Absent eyelashes, Absent eyebrow, Thin nail, Sparse hair	OMIM:618625
22Q11.2 Deletion Syndrome	Cryptorchidism, Hypoparathyroidism, Polycystic kidney dysplasia, Hypospadias, Choanal atresia, Ch...	ORPHA:567
Peroxisome Biogenesis Disorder 12A (Zellweger)	Wide nasal bridge, Cholelithiasis, Abnormality of the male genitalia, Scaphocephaly, Hyperbilirub...	OMIM:614886
Lessel-Kubisch Syndrome	Sparse pubic hair, Renal hypoplasia, Renal insufficiency, Premature graying of hair	OMIM:618681
Meckel Syndrome, Type 9	Multicystic kidney dysplasia, Ambiguous genitalia, Occipital encephalocele	OMIM:614209
Intellectual Developmental Disorder, Autosomal Dominant 26	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Prominent nasal tip, Brachycephaly	OMIM:615834
Machado-Joseph Disease Type 3	Dilated fourth ventricle, Neurogenic bladder, Cerebellar atrophy, Substantia nigra gliosis	ORPHA:276244
Vitamin K Antagonist Embryofetopathy	Depressed nasal bridge, Choanal atresia, Myelomeningocele, Anteverted nares, Hydrocephalus, Short...	ORPHA:1914
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Cerebellar malformation, Ventriculomegaly, Occipital encephalocele, Hydrocephalus	ORPHA:324416
Coach Syndrome 1	Unilateral renal agenesis, Cerebellar vermis hypoplasia, Nephronophthisis, Occipital encephalocel...	OMIM:216360
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Depressed nasal bridge, Ventriculomegaly, Supernumerary nipple, Cryptorchidism, Agenesis of corpu...	ORPHA:1812
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Microretrognathia, Short tibia, Unicoronal synostosis, Preaxial polydactyly, Hypoplas...	OMIM:616300
Developmental And Epileptic Encephalopathy 65	Ventriculomegaly, Plagiocephaly, Cerebellar atrophy	OMIM:618008
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Ventriculomegaly, Plagiocephaly	ORPHA:521390
Nabais Sa-De Vries Syndrome, Type 1	Depressed nasal bridge, Bulbous nose, Prominent nasal bridge, Vesicoureteral reflux, Brachycephal...	OMIM:618828
Hydrocephalus-Obesity-Hypogonadism Syndrome	Abnormality of the hypothalamus-pituitary axis, Azoospermia, Hydrocephalus, Hypergonadotropic hyp...	ORPHA:2183
Intellectual Developmental Disorder, Autosomal Recessive 68	Wide nasal bridge, Cerebellar atrophy, Hydrocephalus	OMIM:618302
Genitopalatocardiac Syndrome	Wide nasal bridge, Multicystic kidney dysplasia, Cryptorchidism, Male pseudohermaphroditism, Gona...	ORPHA:2075
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Wide nasal bridge, Choanal atresia, Ventriculomegaly, Depressed nasal bridge, Bulbous nose, Promi...	OMIM:300968
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Homocystinuria, Methylmalonic aciduria, Brachycephaly, Hyperhomocystinemia, Methylmalonic acidemia	OMIM:309541
Renal Tubular Dysgenesis	Nephropathy, Proximal tubulopathy, Multiple renal cysts, Renotubular dysgenesis	ORPHA:3033
Hajdu-Cheney Syndrome	Hypospadias, Anteverted nares, Cryptorchidism, Renal cyst, Hydrocephalus, Polycystic kidney dyspl...	OMIM:102500
Focal Facial Dermal Dysplasia 3, Setleis Type	Distichiasis, Sparse hair, Absent lower eyelashes, Low anterior hairline	OMIM:227260
Axial Mesodermal Dysplasia Spectrum	Abnormality of the urinary system, Abnormal morphology of female internal genitalia, Abnormality ...	ORPHA:1834
Hemimegalencephaly	Ventriculomegaly, Cranial asymmetry	ORPHA:99802
Fetal Trimethadione Syndrome	Depressed nasal bridge, Brachycephaly, Ambiguous genitalia, Hypospadias, Short nose	ORPHA:1913
Infantile Sialic Acid Storage Disease	Nephrotic syndrome, Anteverted nares, Splenomegaly, Hydrocephalus, Vacuolated lymphocytes, Conjug...	OMIM:269920
Spinocerebellar Ataxia 1	Spinocerebellar atrophy, Dilated fourth ventricle, Olivopontocerebellar atrophy, Urinary bladder ...	OMIM:164400
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Agenesis of corpus callosum, Ambiguous genitalia, Micropenis, Cerebellar cyst, Polycystic kidney ...	OMIM:613091
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Renal hypoplasia, Lateral ventricle dilatation, Partial agenesis of...	OMIM:210710
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Wide nasal bridge, Ventriculomegaly, Renal age...	OMIM:220500
Muenke Syndrome	Coronal craniosynostosis, Brachycephaly, Plagiocephaly, Hydrocephalus	ORPHA:53271
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Endosteal Hyperostosis, Autosomal Dominant	Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Hyperostosis, ...	OMIM:144750
Ventriculomegaly With Cystic Kidney Disease	Ventriculomegaly, Hyperechogenic kidneys, Renal insufficiency, Renal corticomedullary cysts, Hydr...	OMIM:219730
Vacterl With Hydrocephalus	Renal agenesis, Cryptorchidism, Renal hypoplasia/aplasia, Abnormal fallopian tube morphology, Hyd...	ORPHA:3412
Pfeiffer Syndrome	Choanal atresia, Depressed nasal bridge, Coronal craniosynostosis, Chiari malformation, Brachytur...	OMIM:101600
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Broad nasal tip, Enuresis, Short nose	OMIM:613670
Brachydactyly, Type A1, C	Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib...	OMIM:615072
Hereditary Renal Hypouricemia	Chronic kidney disease, Hypouricemia, Acute kidney injury, Decreased glomerular filtration rate, ...	ORPHA:94088
Congenital Toxoplasmosis	Anemia, Ventriculomegaly, Hydrocephalus, Thrombocytopenia	ORPHA:858
Den Hoed-De Boer-Voisin Syndrome	Brachycephaly, Ventriculomegaly, Lateral ventricle dilatation, Recurrent urinary tract infections	OMIM:619229
Neurocardiofaciodigital Syndrome	Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Dilated fourth ventricle, Vesicourete...	OMIM:619869
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
Branchiootorenal Syndrome 1	Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Euthyr...	OMIM:113650
Hidrotic Ectodermal Dysplasia, Halal Type	Supernumerary nipple, Abnormal fingernail morphology, Sparse body hair, Abnormal toenail morpholo...	ORPHA:1809
Wieacker-Wolff Syndrome, Female-Restricted	Urinary incontinence, Brachycephaly, Ventriculomegaly, Anteverted nares	OMIM:301041
Coxoauricular Syndrome	Abnormal pelvic girdle bone morphology, Micromelia, Abnormal femur morphology, Reduced bone miner...	ORPHA:1508
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Fusion of the left and right thalami, Midline brainstem cleft, Agenesis o...	OMIM:617542
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Aqueductal stenosis, Splenomegaly	ORPHA:3035
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Renal hypoplasia, Chiari malformation, Horseshoe kidney, Decreased r...	OMIM:609053
Peroxisome Biogenesis Disorder 11A (Zellweger)	Depressed nasal bridge, Renal cyst, Anteverted nares, Multiple renal cysts	OMIM:614883
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Cerebellar hypoplasia, Brachycephaly, Congenital hypothyroidism, Wide nasal bridge	ORPHA:352530
Rhiny	Anteverted nares, Short nose	OMIM:180360
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Oroticaciduria, Anisocytosis, Hematuria, Orotic acid cr...	OMIM:258900
Spondyloepimetaphyseal Dysplasia, Missouri Type	Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened...	ORPHA:93356
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Brachycephaly, Plagiocephaly, Flat occiput	ORPHA:2898
Prune Belly Syndrome	Multicystic kidney dysplasia, Hydroureter, Abnormality of the uterus, Recurrent urinary tract inf...	ORPHA:2970
Crouzon Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Brachycephaly, Deviated nasal septum, Hydr...	OMIM:123500
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Leukocytosis,...	OMIM:603903
Hypotrichosis And Recurrent Skin Vesicles	Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Sparse axillary hair, Sparse hai...	OMIM:613102
Tuberous Sclerosis Complex	Chronic kidney disease, Pituitary adenoma, Pheochromocytoma, Stage 5 chronic kidney disease, Rena...	ORPHA:805
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility	ORPHA:276183
Martsolf Syndrome 1	Depressed nasal bridge, Ventriculomegaly, Broad nasal tip, Cryptorchidism, Hypogonadotropic hypog...	OMIM:212720
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse eyebrow, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pili torti, Brit...	OMIM:602400
Hepatorenocardiac Degenerative Fibrosis	Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Hyper...	OMIM:619902
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Wide nasal bridge, Medullary nephrocalcinosis, Prominent occiput, Acanthocytos...	OMIM:618947
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Depressed nasal bridge, Abnormal B cell morphology, Cryptorchidism, Hypospadias, Short nose	OMIM:616910
Smith-Kingsmore Syndrome	Depressed nasal bridge, Ventriculomegaly, Cryptorchidism, Thrombocytopenia, Frontal bossing, Shor...	OMIM:616638
1Q44 Microdeletion Syndrome	Ventriculomegaly, Frontal bossing, Horseshoe kidney, Vesicoureteral reflux, Agenesis of corpus ca...	ORPHA:238769
Moynahan Syndrome	Alopecia, Sparse hair	ORPHA:2574
Chopra-Amiel-Gordon Syndrome	Flared nostrils, Unilateral renal agenesis, Brachycephaly, Thick nasal alae	OMIM:619504
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Fine hair	ORPHA:1174
Lig4 Syndrome	Wide nasal bridge, Acute leukemia, Pancytopenia, Type II diabetes mellitus, Leukocytosis, Cryptor...	ORPHA:99812
Developmental Delay With Or Without Dysmorphic Facies And Autism	Wide nasal bridge, Cerebellar vermis hypoplasia, Ventriculomegaly, Small scrotum, Renal hypoplasi...	OMIM:618454
Trisomy 20P	Abnormal localization of kidney, Plagiocephaly, Frontal bossing, Abnormality of the ureter, Antev...	ORPHA:261318
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Anteverted nares, Hydrocephalus, Cryptorchidism, Short nose	ORPHA:2701
Fg Syndrome 5	Depressed nasal bridge, Trigonocephaly, Anteverted nares, Hypospadias, Short nose	OMIM:300581
Holoprosencephaly 7	Hypoplastic nasal septum, Alobar holoprosencephaly, Agenesis of corpus callosum, Bifid nose, Holo...	OMIM:610828
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst, Increased total bilirubin	OMIM:174050
Hypotrichosis 13	Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes	OMIM:615896
Craniodigital-Intellectual Disability Syndrome	Spina bifida occulta, Narrow nasal bridge, Brachycephaly, Short nose	ORPHA:1514
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Depressed nasal bridge, Ventriculomegaly, Plagiocephaly, Colpocephaly, Hydrocephalus, Short nose	OMIM:619833
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro...	ORPHA:35858
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Depressed nasal ridge, Plagiocephaly, Anteverted nares, Prominent occiput, Brachycephaly, Dolicho...	OMIM:618672
3C Syndrome	Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Frontal bossing, Prominent occiput, ...	ORPHA:7
Paroxysmal Nocturnal Hemoglobinuria	Chronic kidney disease, Pancytopenia, Reduced haptoglobin level, Hemosiderinuria, Unconjugated hy...	ORPHA:447
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Micromelia, Camptodactyly of f...	ORPHA:2928
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Duplicated collecting system, Depressed nasal bridge, Lateral ventricle dilatation, Anteverted na...	OMIM:300868
Atelosteogenesis Type Iii	Hand clenching, Absent humerus, Short tibia, Knee dislocation, Short tubular bones of the hand, F...	ORPHA:56305
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus	OMIM:619470
6P22 Microdeletion Syndrome	Hydronephrosis, Hydrocephalus	ORPHA:251046
Lissencephaly 5	Cerebellar vermis hypoplasia, Occipital encephalocele, Hypoplasia of the brainstem, Cerebellar he...	OMIM:615191
Chromosome 13Q33-Q34 Deletion Syndrome	Wide nasal bridge, Penoscrotal transposition, Choanal atresia, Bifid scrotum, Trigonocephaly, Cry...	OMIM:619148
2Q32Q33 Microdeletion Syndrome	Decreased testicular size, Anteverted nares, Prominent nasal bridge, Brachycephaly, Convex nasal ...	ORPHA:251019
Hypotrichosis 8	Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ...	OMIM:278150
Xq28 (MECP2) duplication	Depressed nasal bridge, Decreased circulating IgA level, Brachycephaly, Functional abnormality of...	DECIPHER:45
Distal Deletion 12Q	Annular pancreas, Maturity-onset diabetes of the young, Pituitary adenoma, Frontal bossing, Bulbo...	ORPHA:96149
Hypogonadism, Male	Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy	OMIM:241100
Thanatophoric Dysplasia	Depressed nasal bridge, Ventriculomegaly, Hydrocephalus, Abnormality of the kidney, Frontal bossi...	ORPHA:2655
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Ventriculomegaly, Bulbous nose, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Communi...	OMIM:615219
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas...	ORPHA:97362
Trisomy X	Precocious puberty, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Premature ovarian ins...	ORPHA:3375
Congenital Disorder Of Glycosylation, Type Iit	Hypotriglyceridemia, Prominent nasal bridge, Decreased serum creatinine, Brachycephaly, Iron defi...	OMIM:618885
Scalp-Ear-Nipple Syndrome	Unilateral renal agenesis, Renal hypoplasia, Depressed nasal bridge, Lateral ventricle dilatation...	OMIM:181270
Methylcobalamin Deficiency Type Cble	Ventriculomegaly, Increased mean corpuscular volume, Hypoplasia of the brainstem, Pancytopenia, M...	ORPHA:2169
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse body hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse scalp hair	OMIM:618535
Septopreoptic Holoprosencephaly	Precocious puberty, Abnormal midbrain morphology, Hypoplasia of the pons, Central diabetes insipi...	ORPHA:280195
Distal 7Q11.23 Microduplication Syndrome	Frontal encephalocele, Chiari malformation, Hydrocephalus, Cryptorchidism	ORPHA:261102
Cockayne Syndrome Type 1	Male hypogonadism, Renal insufficiency, Cryptorchidism, Proteinuria, Increased blood urea nitroge...	ORPHA:90321
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Epistaxis, Acanthocytosis, Anemia of inadequate production, Congenital thrombocytopenia, Poikiloc...	OMIM:300367
Kabuki Syndrome 1	Wide nasal bridge, Anoperineal fistula, Lateral ventricle dilatation, Congenital hypothyroidism, ...	OMIM:147920
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Rhyns Syndrome	Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Sabinas Brittle Hair Syndrome	Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair	OMIM:211390
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Ventriculomegaly, Multicystic kidney dysplasia, Occipital encephalocele, Hypoplasia of the brains...	OMIM:615287
Cerebellar Ataxia-Hypogonadism Syndrome	Supernumerary nipple, Hypogonadism, Decreased fertility, Hypogonadotropic hypogonadism, Brachycep...	ORPHA:1173
Femoral-Facial Syndrome	Ventriculomegaly, Abnormal renal collecting system morphology, Renal agenesis, Underdeveloped nas...	OMIM:134780
Joubert Syndrome With Oculorenal Defect	Nephropathy, Cerebellar vermis hypoplasia, Anteverted nares, Prominent nasal bridge, Renal insuff...	ORPHA:2318
Alexander Disease	Precocious puberty, Frontal bossing, Agenesis of corpus callosum, Hypothyroidism, Hydrocephalus, ...	ORPHA:58
Diabetic Embryopathy	Spinal dysraphism, Abnormal morphology of female internal genitalia, Cryptorchidism, Renal hypopl...	ORPHA:1926
48,Xxxy Syndrome	Small scrotum, Depressed nasal ridge, Hypogonadism, Decreased testicular size, Azoospermia, Type ...	ORPHA:96263
Spermatogenic Failure 77	Azoospermia, Multiflagellar spermatozoa, Oligozoospermia, Male infertility	OMIM:620103
Congenital Heart Defects And Ectodermal Dysplasia	Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Brachycephaly, Frontal bossing	OMIM:617364
Apert Syndrome	Choanal atresia, Ventriculomegaly, Depressed nasal bridge, Chiari malformation, Brachyturricephal...	ORPHA:87
Intellectual Developmental Disorder, Autosomal Dominant 39	Wide nasal base, Hydrocephalus, Wide nasal bridge	OMIM:616521
Developmental And Epileptic Encephalopathy 1	Micropenis, Ventriculomegaly, Plagiocephaly	OMIM:308350
Medullary cystic kidney disease 2	Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Renal corticomedu...	OMIM:603860
Helsmoortel-Van Der Aa Syndrome	Enuresis nocturna, Wide nasal bridge, Ventriculomegaly, Posterior plagiocephaly, Broad nasal tip,...	OMIM:615873
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Brittle hair, Sparse hair	OMIM:104100
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Lateral ventricle dilatation	ORPHA:2148
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia...	OMIM:119100
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Plagiocephaly, Bulbous nose, Prominent nose, Prominent nasal bridge, Anteverted nares, Brachyceph...	OMIM:616801
Hypotrichosis 14	Sparse pubic hair, Sparse body hair, Absent axillary hair, Sparse hair, Short eyelashes	OMIM:618275
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Depressed nasal ridge, Frontal bossing, Hydrocephalus, Short nose	OMIM:300863
Joubert Syndrome 36	Anteverted nares, Molar tooth sign on MRI	OMIM:618763
Warburg Micro Syndrome 4	Small scrotum, Cerebellar atrophy, Decreased testicular size, Anteverted nares, Prominent nasal b...	OMIM:615663
Aica-Ribosiduria Due To Atic Deficiency	Clitoral hypertrophy, Anteverted nares, Prominent nasal bridge, Hyponatremia, Brachycephaly, Fuse...	OMIM:608688
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Renal insuff...	ORPHA:2237
German Syndrome	Wide nasal bridge, Depressed nasal bridge, Cryptorchidism, Brachycephaly, Ambiguous genitalia, Do...	ORPHA:2077
Distal Duplication 18Q	Choanal atresia, Abnormal female external genitalia morphology, Anteverted nares, Prominent nasal...	ORPHA:1716
Cerebrooculonasal Syndrome	Cerebellar vermis hypoplasia, Ventriculomegaly, Proboscis, Anteverted nares, Prominent nasal brid...	OMIM:605627
Weiss-Kruszka Syndrome	Ventriculomegaly, Anteverted nares, Agenesis of corpus callosum, Colpocephaly, Short nose	OMIM:618619
Dermotrichic Syndrome	Aminoaciduria, Depressed nasal bridge, Anemia, Frontal bossing, Short nose	ORPHA:99688
Acromesomelic Dysplasia, Hunter-Thompson Type	Abnormal pelvic girdle bone morphology, Abnormality of the ankle, Hip dislocation, Short thumb, S...	ORPHA:968
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Wide nasal bridge, Ventriculomegaly, Skull asymmetry, Anteverted nares, Brachycephaly, Lobar holo...	OMIM:614701
Mosaic Trisomy 9	Ventriculomegaly, Hypoplastic female external genitalia, Abnormality of the uterus, Horseshoe kid...	ORPHA:99776
Plasminogen Deficiency, Type I	Nephritis, Ventriculomegaly, Recurrent upper respiratory tract infections, Nephrolithiasis, Cereb...	OMIM:217090
14Q22Q23 Microdeletion Syndrome	Small scrotum, Ventriculomegaly, Renal hypoplasia, Underdeveloped nasal alae, Cryptorchidism, Age...	ORPHA:264200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebellar hypop...	OMIM:613155
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Chiari type I malformation, Plagiocephaly, Agenesis of corpus callosum	ORPHA:459074
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation	OMIM:607485
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Stomatocytosis, Decreased thalamic volume, Hypoglycorrhachia, Hepat...	ORPHA:168577
Phosphoribosylaminoimidazole Carboxylase Deficiency	Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Bilateral cryptorchidism, Ant...	OMIM:619859
Chromosome 6Pter-P24 Deletion Syndrome	Depressed nasal bridge, Agenesis of corpus callosum, Brachycephaly, Hydrocephalus, Frontal bossin...	OMIM:612582
Acromesomelic Dysplasia 2B	Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma...	OMIM:228900
Intellectual Developmental Disorder, X-Linked 91	Short nose	OMIM:300577
Meckel Syndrome, Type 2	Encephalocele, Renal cyst, Meningocele, Anencephaly, Dandy-Walker malformation	OMIM:603194
Pili Torti-Onychodysplasia Syndrome	Alopecia universalis, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dystrophy, Abs...	ORPHA:2890
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Fanconi Anemia, Complementation Group R	Bone marrow hypocellularity, Chiari type I malformation, Hydrocephalus, Anemia, Pelvic kidney	OMIM:617244
Omphalocele-Cleft Palate Syndrome, Lethal	Bicornuate uterus, Hydrocephalus	OMIM:258320
Trigonocephaly 1	Wide nasal bridge, Long penis, Trigonocephaly, Craniosynostosis, Short nose	OMIM:190440
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Depressed nasal bridge, Bilateral cryptorchidism, Brachycephaly, Craniosynostosis, Frontal bossing	ORPHA:314575
Intellectual Developmental Disorder, X-Linked 1	Brachycephaly	OMIM:309530
Mirage Syndrome	Hypospadias, Microphallus, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Decreased...	OMIM:617053
Verheij Syndrome	Wide nasal bridge, Renal hypoplasia, Broad nasal tip, Renal agenesis, Anteverted nares, Renal cys...	OMIM:615583
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Depressed nasal bridge, Unilateral renal agenesis, Anteverted nares, Craniosynostosis, Communicat...	ORPHA:1064
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Depressed nasal bridge, Oligosacchariduria, Anteverted nares, Anterior plagiocephaly, Brachycepha...	ORPHA:163649
Alexander Disease	Abnormal dentate nucleus morphology, Increased CSF protein concentration, Hydrocephalus	OMIM:203450
Desmosterolosis	Ventriculomegaly, Hypoplastic nasal bridge, Abnormal circulating cholesterol concentration, Ambig...	OMIM:602398
Cutis Laxa, Autosomal Recessive, Type Iiia	Hypoornithinemia, Cryptorchidism, Hyperammonemia, Narrow nasal ridge, Brachycephaly, Low plasma c...	OMIM:219150
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Wide nasal bridge, Depressed nasal bridge, Plagiocephaly, Bulbous nose, Cryptorchidism, Brachycep...	ORPHA:369891
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Brachycephaly	OMIM:309545
15q26 overgrowth syndrome	Wide nasal bridge, Duplication of renal pelvis, Renal agenesis, Horseshoe kidney, Bulbous nose, P...	DECIPHER:81
Hypochondroplasia	Abnormal pelvic girdle bone morphology, Micromelia, Short toe, Abnormal femur morphology, Bowing ...	ORPHA:429
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Aplasia/Hypoplasia involving the nose, Cryptorchidism, Agenesis of ...	ORPHA:3301
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Unilateral renal agenesis, Anosmia, Decreased serum testosterone concentration, De...	OMIM:308700
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Choanal atresia, Ventriculomegaly, Depressed nasal bridge, Bulbous nose, Cerebellar hypoplasia, S...	ORPHA:284169
Neural Tube Defects, Susceptibility To	Myelomeningocele, Hydrocephalus, Urinary incontinence, Spina bifida occulta, Anencephaly	OMIM:182940
Diabetes Insipidus, Neurohypophyseal	Decreased circulating osteocalcin level, Central diabetes insipidus, Short nose, Wide nose	OMIM:125700
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Trigonocephaly, Anteverted nares, Cerebellar atrophy, Short nose	OMIM:618506
Meckel Syndrome, Type 6	Occipital encephalocele, Aplasia of the bladder, Horseshoe kidney, Absent gallbladder, Hepatic cy...	OMIM:612284
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebellar hypoplasia,...	OMIM:615181
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Cerebellar hypoplasia, Hydrocephalus, Hypoplasia of the brainstem	OMIM:618174
3-Methylglutaconic Aciduria, Type Viia	Cerebellar atrophy, 3-Methylglutaconic aciduria, Neutropenia, Anisopoikilocytosis, Anemia	OMIM:619835
Genitopalatocardiac Syndrome	Renal cyst, Hypospadias, Gonadal dysgenesis, male	OMIM:231060
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Depressed nasal ridge, Cerebellar hypoplasia, Hydrocephalus, Frontal bossing, Short nose	ORPHA:163966
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Broad columella, Underdeveloped nasal alae, Horseshoe kidney, Cryptorchidism, Chiari type I malfo...	ORPHA:166035
Temple Syndrome	Precocious puberty, Decreased response to growth hormone stimulation test, Type II diabetes melli...	ORPHA:254516
Periventricular Nodular Heterotopia 7	Anteverted nares, Cryptorchidism, Choroid plexus cyst, Dolichocephaly, Short nose	OMIM:617201
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Vesicoureteral reflux, Multiple renal cysts, Cryptorchidism, Renal hypoplasia/aplasia	ORPHA:1166
Antley-Bixler Syndrome	Choanal atresia, Anteverted nares, Turricephaly, Abnormal renal morphology, Brachycephaly, Cranio...	ORPHA:83
Fanconi Anemia, Complementation Group O	External genital hypoplasia, Stage 5 chronic kidney disease, Cryptorchidism, Hydronephrosis, Rena...	OMIM:613390
Laurin-Sandrow Syndrome	Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl...	ORPHA:2378
H Syndrome	Microcytic anemia, Decreased testicular size, Hepatosplenomegaly, Azoospermia, Hypogonadism, Chro...	ORPHA:168569
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Depressed nasal bridge, Plagiocephaly, Bulbous nose, Cryptorchidism, Brachycephaly, Frontal bossing	OMIM:616789
Pseudoprogeria Syndrome	Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair	ORPHA:2985
Roberts Syndrome	Clitoral hypertrophy, Long penis, Underdeveloped nasal alae, Cryptorchidism, Brachycephaly, Throm...	ORPHA:3103
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Brachycephaly, Cerebellar atrophy	ORPHA:320385
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ...	OMIM:616959
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hydroureter, Abnormality of the upper urinary tract, Hypoplasia of penis, Abnormality of the blad...	ORPHA:2547
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Subperiosteal ...	OMIM:114000
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Developmental And Epileptic Encephalopathy 50	Oroticaciduria, Acanthocytosis, Renal tubular acidosis, Hyperammonemia, Schistocytosis, Anisopoik...	OMIM:616457
Acrodysostosis	Irregular menstruation, Depressed nasal ridge, Wide nasal bridge, Depressed nasal bridge, Abnorma...	ORPHA:950
Pde4D Haploinsufficiency Syndrome	Hypospadias, Depressed nasal bridge, Elevated circulating parathyroid hormone level, Prominent no...	ORPHA:439822
Mitochondrial Myopathy And Sideroblastic Anemia	Anemia, Delayed puberty, Short nose	ORPHA:2598
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Unilateral renal agenesis, Depressed nasal bridge, Supernumerary nipple, Bicoronal synostosis, Ve...	OMIM:619951
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Beck-Fahrner Syndrome	Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Brachycephaly	OMIM:618798
Raine Syndrome	Choanal atresia, Depressed nasal bridge, Plagiocephaly, Hydroureter, Brachyturricephaly, Hydronep...	OMIM:259775
Autosomal Dominant Omodysplasia	Depressed nasal bridge, Bifid scrotum, Cryptorchidism, Ambiguous genitalia, Hypoplasia of penis, ...	ORPHA:93328
Desmosterolosis	Depressed nasal bridge, Ventriculomegaly, Renal agenesis, Abnormality of the nose, Splenomegaly, ...	ORPHA:35107
Focal Facial Dermal Dysplasia Type Iii	Highly arched eyebrow, Sparse lateral eyebrow, Abnormality of the upper urinary tract, Distichias...	ORPHA:1807
Familial Peripheral Male-Limited Precocious Puberty	Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility	ORPHA:3000
Isolated Polycystic Liver Disease	Multiple renal cysts, Increased total bilirubin	ORPHA:2924
16Q24.3 Microdeletion Syndrome	Ventriculomegaly, Increased mean corpuscular volume, Frontal bossing, Anteverted nares, Cryptorch...	ORPHA:261250
Combined Oxidative Phosphorylation Deficiency 25	Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Cerebellar atrophy, Hypoplasia of th...	OMIM:616430
Lowry-Maclean Syndrome	Choanal atresia, Bilateral cryptorchidism, Trigonocephaly, Hydrocephalus, Convex nasal ridge, Cra...	ORPHA:2409
Miller-Dieker Syndrome	Nephropathy, Anteverted nares, Short nose	ORPHA:531
Endocrine-Cerebroosteodysplasia	Wide nasal bridge, Small scrotum, Ventriculomegaly, Microphallus, Hyperechogenic kidneys, Depress...	OMIM:612651
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Splenomegaly, Redu...	OMIM:210250
Joubert Syndrome 15	Nephronophthisis, Exencephaly, Ambiguous genitalia, Molar tooth sign on MRI, Micropenis	OMIM:614464
Fanconi Anemia, Complementation Group B	Ventriculomegaly, Aplastic anemia, Renal agenesis, Hypogonadism, Cerebellar hypoplasia, Hydroceph...	OMIM:300514
Hemangioblastoma	Neurogenic bladder, Hydrocephalus, Cerebellar edema, Cerebellar hemangioblastoma	ORPHA:252054
Autosomal Recessive Spastic Paraplegia Type 11	Abnormal substantia nigra morphology, Hypothalamic atrophy, Lateral ventricle dilatation	ORPHA:2822
Megaloblastic Anemia, Folate-Responsive	Increased circulating ferritin concentration, Hypersegmentation of neutrophil nuclei, Folate-resp...	OMIM:601775
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia...	ORPHA:988
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn...	ORPHA:399805
Chromosome 17P13.1 Deletion Syndrome	Depressed nasal bridge, Plagiocephaly, Bulbous nose, Anteverted nares, Prominent nasal bridge, Tu...	OMIM:613776
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Short nose	OMIM:618379
X-Linked Intellectual Disability, Sutherland-Haan Type	Decreased testicular size, Brachycephaly	ORPHA:93950
Polysyndactyly With Cardiac Malformation	Renal cyst, Small nail, Hepatic cysts, Stillbirth	OMIM:263630
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Wide nasal base, Flared nostrils, Renal dysplasia, Cerebellar vermis hypoplasia, Choanal atresia,...	ORPHA:480880
Intellectual Disability-Strabismus Syndrome	Depressed nasal bridge, Plagiocephaly, Decreased response to growth hormone stimulation test, Med...	ORPHA:363528
Frontofacionasal Dysplasia	Bifid nasal tip, Choanal atresia, Depressed nasal ridge, Depressed nasal bridge, Encephalocele, B...	ORPHA:1791
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Cerebellar vermis hypoplasia, Ventriculomegaly, Nephronophthisis, Splenom...	OMIM:615630
Kennedy Disease	Abnormal circulating lipid concentration, Type II diabetes mellitus, Decreased fertility, Testicu...	ORPHA:481
Charge Syndrome	Choanal atresia, Anosmia, Depressed nasal bridge, Bifid scrotum, Abnormal morphology of female in...	ORPHA:138
Macrocephaly-Intellectual Disability-Autism Syndrome	Depressed nasal bridge, Frontal bossing, Penile freckling, Thyroid carcinoma, Hurthle cell thyroi...	ORPHA:210548
Congenital Short Bowel Syndrome	Sparse hair, Displacement of the urethral meatus	ORPHA:2301
Peho Syndrome	Ventriculomegaly, Cerebellar atrophy, Anteverted nares, Hydrocephalus, Atrophy/Degeneration affec...	ORPHA:2836
Braddock-Carey Syndrome 1	Wide nasal bridge, Multicystic kidney dysplasia, Anteverted nares, Agenesis of corpus callosum, T...	OMIM:619980
Joubert Syndrome With Hepatic Defect	Nephropathy, Cerebellar vermis hypoplasia, Multicystic kidney dysplasia, Occipital encephalocele,...	ORPHA:1454
Birt-Hogg-Dube Syndrome 1	Sebaceous hyperplasia, Renal cyst, Renal cell carcinoma, Renal neoplasm, Trichodiscoma	OMIM:135150
Cerebrofaciothoracic Dysplasia	Cerebellar vermis hypoplasia, Ventriculomegaly, Brachycephaly, Short nose, Wide nose	ORPHA:1394
Fryns Syndrome	Wide nasal bridge, Ventriculomegaly, Multicystic kidney dysplasia, Anteverted nares, Vesicoureter...	ORPHA:2059
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Abnormal reproductive system morphology, Brachycephaly, Increased CSF lactate	ORPHA:70472
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Micrognathia, Small...	ORPHA:96334
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:300952
Camptodactyly Syndrome, Guadalajara Type 1	Depressed nasal bridge, Anteverted nares, Brachycephaly, Spina bifida, Short nose	ORPHA:1327
Kniest Dysplasia	Delayed epiphyseal ossification, Rhizomelia, Dumbbell-shaped femur, Flared metaphysis, Hypoplasti...	OMIM:156550
Desanto-Shinawi Syndrome	Depressed nasal bridge, Bulbous nose, Brachycephaly	OMIM:616708
Ectodermal Dysplasia/Skin Fragility Syndrome	Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingernails, Absent eyebrow, Spar...	OMIM:604536
Stevenson-Carey Syndrome	Underdeveloped nasal alae, Recurrent urinary tract infections, Anteverted nares, Cerebellar hypop...	OMIM:611961
Alopecia Antibody Deficiency	Abnormal eyelash morphology, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Sparse body hair	ORPHA:1006
D-Bifunctional Protein Deficiency	Depressed nasal bridge, Ventriculomegaly, Cerebellar atrophy, Scaphocephaly, Primary adrenal insu...	OMIM:261515
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rickets, Osteomalacia, Trap...	OMIM:307800
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ...	OMIM:609441
Microform Holoprosencephaly	Choanal atresia, Renal agenesis, Panhypopituitarism, Narrow nasal bridge, Anteverted nares, Midna...	ORPHA:280200
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Hydranencephaly, Hypoplasia of the brainstem, Agenesis of corpus callosum, Cere...	OMIM:225790
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Anonychia, Nail dystrophy, Sparse body hair	ORPHA:79402
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Cryptorchidi...	OMIM:300260
Syndromic Diarrhea	Wide nasal bridge, Renal hypoplasia, Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Hypothy...	ORPHA:84064
Cardiofaciocutaneous Syndrome 2	Sparse hair, Absent eyebrow, Fine hair, Curly hair	OMIM:615278
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Macrocytic anemia, Aniso...	ORPHA:71275
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia, Cerebellar atrophy	OMIM:613909
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
Lethal Osteosclerotic Bone Dysplasia	Depressed nasal ridge, Anteverted nares, Short nose	ORPHA:1832
Oculocerebral Hypopigmentation Syndrome, Cross Type	Depressed nasal bridge, Abnormality of the urinary system, Ureteral stenosis, Anteverted nares, C...	ORPHA:2719
Carpenter Syndrome 1	Precocious puberty, Lambdoidal craniosynostosis, Coronal craniosynostosis, Depressed nasal bridge...	OMIM:201000
Renal Cysts And Diabetes Syndrome	Decreased numbers of nephrons, Pancreatic atrophy, Abnormality of the kidney, Hypoplasia of the u...	OMIM:137920
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617874
Wolfram Syndrome 1	Hydroureter, Sideroblastic anemia, Hydronephrosis, Hypothyroidism, Megaloblastic anemia, Neurogen...	OMIM:222300
Molybdenum Cofactor Deficiency, Type A	Hypouricemia, Ventriculomegaly, Decreased urinary urate, Increased urinary taurine, Increased uri...	OMIM:252150
Marshall-Smith Syndrome	Choanal atresia, Ventriculomegaly, Anteverted nares, Cerebellar hypoplasia, Craniosynostosis, Sho...	ORPHA:561
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Hepatosplenomegaly, Tubulointerstitial f...	ORPHA:85450
14Q24.1Q24.3 Microdeletion Syndrome	Wide nasal bridge, Prominent nasal bridge, Cryptorchidism, Ectopic kidney, Short nose	ORPHA:401935
Short Stature, Microcephaly, And Endocrine Dysfunction	Unilateral renal agenesis, Ventriculomegaly, Renal hypoplasia, Broad nasal tip, Abnormal circulat...	OMIM:616541
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Hypogonadism, Hydrocephalus, Cryptorchidism	OMIM:601794
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Wide nasal bridge, Ventriculomegaly, Plagiocephaly, Short columella, Turricephaly, Hydrocephalus,...	OMIM:613603
Cerebellar-Facial-Dental Syndrome	Wide nasal bridge, Abnormal midbrain morphology, Ventriculomegaly, Inferior cerebellar vermis hyp...	ORPHA:444072
Bardet-Biedl Syndrome 17	Anosmia, Hypogonadism, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis, Hyposmia	OMIM:615994
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Depressed nasal bridge, Plagiocephaly, Bulbous nose, Brachycephaly, Frontal bossing, Short nose	OMIM:618430
Ciliary Dyskinesia, Primary, 53	Cerebellar vermis hypoplasia, Dilated fourth ventricle, Hypoplastic spleen, Polysplenia	OMIM:620642
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Epistaxis, Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Menorrhagia, Increas...	OMIM:153670
Acrorenal-Mandibular Syndrome	Absent nipple, Uterus didelphys, Renal agenesis, Aplasia of the bladder, Abnormality of the urete...	OMIM:200980
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le...	OMIM:228300
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Burn-Mckeown Syndrome	Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia, Short nose	ORPHA:1200
Alagille Syndrome 2	Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria...	OMIM:610205
Nabais Sa-De Vries Syndrome, Type 2	Depressed nasal bridge, Multicystic kidney dysplasia, Bulbous nose, Prominent nose, Anteverted na...	OMIM:618829
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Hydrocephalus	OMIM:300886
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short tibia, Preaxial polydactyly, Micrognathia, Fibular hypoplasia, Short ribs, Postaxial polyda...	OMIM:617925
Osteopetrosis With Renal Tubular Acidosis	Proximal renal tubular acidosis, Plagiocephaly, Pancytopenia, Leukopenia, Distal renal tubular ac...	ORPHA:2785
Kallmann Syndrome With Spastic Paraplegia	Unilateral renal agenesis, Anosmia, Hypothalamic gonadotropin-releasing hormone deficiency, Crypt...	OMIM:308750
Beare-Stevenson Cutis Gyrata Syndrome	Choanal atresia, Ventriculomegaly, Depressed nasal bridge, Chiari malformation, Bifid scrotum, An...	OMIM:123790
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Horseshoe kidney, Aplasia of the uterus, Anteriorly displaced urethral meatus, ...	OMIM:266810
Genitourinary And/Or Brain Malformation Syndrome	Clitoral hypertrophy, Chiari malformation, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cr...	OMIM:618820
Pontocerebellar Hypoplasia, Type 7	Wide nasal bridge, Ventriculomegaly, Broad nasal tip, Hypoplasia of the pons, Hypoplasia of the b...	OMIM:614969
Craniometaphyseal Dysplasia, Autosomal Dominant	Abnormal pelvic girdle bone morphology, Erlenmeyer flask deformity of the femurs, Flared metaphys...	OMIM:123000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
X-Linked Intellectual Disability Due To Gria3 Mutations	Cerebellar vermis hypoplasia, Cryptorchidism, Hydronephrosis, Brachycephaly, Micropenis, Retrocer...	ORPHA:364028
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P...	OMIM:300835
20Q11.2 Microduplication Syndrome	Wide nasal bridge, Depressed nasal bridge, Bifid scrotum, Trigonocephaly, Anteverted nares, Crypt...	ORPHA:363659
Hydrocephaly-Low Insertion Umbilicus Syndrome	Long nose, Communicating hydrocephalus, Abnormality of the urinary system, Wide nose	ORPHA:2184
Autosomal Recessive Polycystic Kidney Disease	Depressed nasal ridge, Acute kidney injury, Oliguria, Recurrent urinary tract infections, Hepatos...	ORPHA:731
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Wide nasal bridge, Depressed nasal bridge, Abnormal thalamus morphology, Anteverted nares, Crypto...	ORPHA:404440
2Q23.1 Microdeletion Syndrome	Brachycephaly, Hypoplasia of penis, Cryptorchidism	ORPHA:228402
Papillary Tumor Of The Pineal Region	Increased CSF protein concentration, Hydrocephalus	ORPHA:251915
Aminopterin Syndrome Sine Aminopterin	Brachycephaly, Frontal bossing, Cryptorchidism	OMIM:600325
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Increased bone mineral density, Femoral bowing, Tibia...	OMIM:166740
Maternal Uniparental Disomy Of Chromosome 4	Type I diabetes mellitus, Hypocholesterolemia, Abnormal erythrocyte morphology, Acanthocytosis, A...	ORPHA:96180
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil...	ORPHA:90793
Emanuel Syndrome	Unilateral renal agenesis, Ventriculomegaly, Renal hypoplasia, Chiari malformation, Hypogonadism,...	ORPHA:96170
Diamond-Blackfan Anemia 8	Wide nasal bridge, Increased mean corpuscular volume, Macrocytic anemia, Neutropenia, Short nose	OMIM:612563
Beemer-Ertbruggen Syndrome	Wide nasal bridge, Bulbous nose, Cryptorchidism, Ambiguous genitalia, Thrombocytopenia, Communica...	ORPHA:1237
Spherocytosis, Type 2	Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia	OMIM:616649
Atelosteogenesis, Type Ii	Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap, Micromelia, Micrognath...	OMIM:256050
Intellectual Developmental Disorder, Autosomal Dominant 74	Brachycephaly, Prominent nose	OMIM:620688
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Wide nasal bridge, Depressed nasal bridge, Bulbous nose, Prominent nose, Anteverted nares, Hydroc...	ORPHA:2180
B4Galt1-Cdg	Wide nasal bridge, Splenomegaly, Elevated circulating creatine kinase concentration, Cerebellar h...	ORPHA:79332
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Wide nasal bridge, Broad nasal tip, Plagiocephaly, Abnormal renal morphology, Hydrocephalus, Shor...	OMIM:239300
Proximal 16P11.2 Microdeletion Syndrome	Ventriculomegaly, Multicystic kidney dysplasia, Chiari type I malformation, Craniosynostosis, Pla...	ORPHA:261197
46,Xy Partial Gonadal Dysgenesis	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,...	ORPHA:251510
Congenital Disorder Of Glycosylation, Type Iq	Microcytic anemia, Cerebellar vermis hypoplasia, Brachycephaly, Depressed nasal bridge	OMIM:612379
Congenital Disorder Of Glycosylation, Type Iim	Wide nasal bridge, Neonatal hyperbilirubinemia, Lateral ventricle dilatation, Ureteropelvic junct...	OMIM:300896
Al-Gazali-Bakalinova Syndrome	Wide nasal bridge, Depressed nasal bridge, Agenesis of corpus callosum, Molar tooth sign on MRI, ...	OMIM:607131
Peutz-Jeghers Syndrome	Nasal polyposis, Abnormality of the nose, Pancreatic adenocarcinoma, Abnormality of the ureter, N...	ORPHA:2869
Ring Chromosome 7 Syndrome	Wide nasal bridge, Ventriculomegaly, Plagiocephaly, Narrow naris, Hypogonadism, Anteverted nares,...	ORPHA:1449
Adult Krabbe Disease	Abnormal midbrain morphology, Increased CSF protein concentration, Abnormal medulla oblongata mor...	ORPHA:206448
Focal Segmental Glomerulosclerosis 1	Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Stage 5 chronic kidn...	OMIM:603278
Orofaciodigital Syndrome Type 2	Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,...	ORPHA:2751
Spondyloenchondrodysplasia	Chronic kidney disease, Ventriculomegaly, Decreased response to growth hormone stimulation test, ...	ORPHA:1855
Congenital Disorder Of Glycosylation, Type Iil	Unilateral renal agenesis, Ventriculomegaly, Proximal tubulopathy, Decreased specific anti-polysa...	OMIM:614576
15Q11.2 Microdeletion Syndrome	Dilated fourth ventricle	ORPHA:261183
Acromelic Frontonasal Dysostosis	Wide nasal bridge, Bifid nasal tip, Ventriculomegaly, Broad nasal tip, Parietal foramina, Hypopit...	OMIM:603671
Caroli Disease	Cholelithiasis, Leukocytosis, Splenomegaly, Conjugated hyperbilirubinemia, Polycystic kidney dysp...	ORPHA:53035
Dermoodontodysplasia	Toenail dysplasia, Sparse body hair, Fingernail dysplasia, Trichodysplasia, Sparse scalp hair	ORPHA:1660
Lujan-Fryns Syndrome	Brachycephaly, Macroorchidism, Prominent nasal bridge	ORPHA:776
Keppen-Lubinsky Syndrome	Narrow nasal bridge, Lateral ventricle dilatation, Underdeveloped nasal alae, Narrow naris	OMIM:614098
Johanson-Blizzard Syndrome	Abnormal vagina morphology, Underdeveloped nasal alae, Abnormality of the female genitalia, Hydro...	ORPHA:2315
Kury-Isidor Syndrome	Hydronephrosis, Brachycephaly, Anteverted nares, Frontal bossing	OMIM:619762
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Cone/cone-rod dystrophy, Hypoplastic inferior ilia, Short metacarpal, Optic disc coloboma, Retina...	OMIM:608940
Grant Syndrome	Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Micrognathia, Abnormal ...	ORPHA:2097
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Depressed nasal bridge, Extra-axial cerebrospinal fluid accumulation, Plagiocephaly, Underdevelop...	OMIM:619005
Spherocytosis, Type 1	Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia	OMIM:182900
Thoracomelic Dysplasia	Abnormal pelvic girdle bone morphology, Genu valgum, Short ribs, Limb undergrowth, Diaphyseal und...	ORPHA:1803
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Short columella, Short nose	OMIM:155050
Xq27.3Q28 Duplication Syndrome	Sparse body hair	ORPHA:261483
Acrofrontofacionasal Dysostosis 2	Bifid scrotum, Brachycephaly, Shawl scrotum, Hypospadias, Wide nose	OMIM:239710
7Q11.23 Microduplication Syndrome	Unilateral renal agenesis, Ventriculomegaly, Enuresis, Broad nasal tip, Aplasia/hypoplasia of the...	ORPHA:96121
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Wide nasal bridge, Unilateral renal agenesis, Ventriculomegaly, Progressive ventriculomegaly, Dec...	ORPHA:500150
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Renal hypoplasia, Decreased testicular size, Leukocytosis, Hypoplasia of the ovary, Hydrocephalus...	OMIM:619321
Blepharophimosis-Impaired Intellectual Development Syndrome	Wide nasal bridge, Plagiocephaly, Chiari malformation, Hypoplasia of the pons, Enuresis, Frontal ...	OMIM:619293
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Ventriculomegaly, Colpocephaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:620156
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
Joubert Syndrome With Ocular Defect	Cerebellar vermis hypoplasia, Anteverted nares, Prominent nasal bridge, Encephalocele, Agenesis o...	ORPHA:220493
Floating-Harbor Syndrome	Precocious puberty, Varicocele, Nephrocalcinosis, Broad nasal tip, Dilatation of the renal pelvis...	ORPHA:2044
Aymé-Gripp Syndrome	Depressed nasal bridge, Ventriculomegaly, Plagiocephaly, Breast hypoplasia, Cryptorchidism, Chiar...	ORPHA:1272
Osteopetrosis, Autosomal Recessive 2	Extramedullary hematopoiesis, Cranial hyperostosis, Hepatosplenomegaly, Pancytopenia, Hydrocephal...	OMIM:259710
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Brachycephaly, Narrow nasal bridge, Flat occiput	ORPHA:2511
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Talipes equinovarus, Short tibia, Short femur	OMIM:620306
Pallister-Hall Syndrome	Cryptorchidism, Holoprosencephaly, Ectopic kidney, Renal dysplasia, Short nose, Precocious pubert...	OMIM:146510
Intellectual Developmental Disorder, Autosomal Dominant 64	Depressed nasal bridge, Ventriculomegaly, Plagiocephaly, Bulbous nose, Anteverted nares, Cerebell...	OMIM:619188
Pseudodiastrophic Dysplasia	Brachycephaly, Anteverted nares, Frontal bossing	OMIM:264180
Heyn-Sproul-Jackson Syndrome	Sparse hair	OMIM:618724
Houge-Janssens Syndrome 3	Ventriculomegaly, Broad nasal tip, Plagiocephaly, Hypoplasia of the brainstem, Frontal bossing	OMIM:618354
Au-Kline Syndrome	Chronic kidney disease, Bifid nasal tip, Ventriculomegaly, Plagiocephaly, Dilatation of the renal...	OMIM:616580
Spermatogenic Failure 14	Azoospermia, Male infertility, Round spermatid arrest	OMIM:615842
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormal fingernail morphology, Sparse hair, Sparse body hair	ORPHA:1810
Acrofacial Dysostosis 1, Nager Type	Unilateral renal agenesis, Prominent nasal bridge, Hydrocephalus, Aqueductal stenosis, Bicornuate...	OMIM:154400
Osteopetrosis, Autosomal Dominant 1	Abnormal pelvic girdle bone morphology, Thickened cortex of long bones, Generalized osteosclerosi...	OMIM:607634
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Depressed nasal bridge, Anteverted nares, Renal insufficiency, Proteinuria, Glomerulopathy, Ellip...	ORPHA:86818
Chromosome 2Q37 Deletion Syndrome	Depressed nasal bridge, Broad nasal tip, Anteverted nares, Brachycephaly, Hypothyroidism, Wide nose	OMIM:600430
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Depressed nasal bridge, Ventriculomegaly, Chiari malformation, Aplasia/Hypoplasia of the cerebell...	ORPHA:60040
Nasu-Hakola Disease	Ventriculomegaly, Hydrocephalus, Acute leukemia	ORPHA:2770
Intellectual Developmental Disorder, Autosomal Dominant 65	Wide nasal bridge, Bulbous nose, Anteverted nares, Agenesis of corpus callosum, Turricephaly, Non...	OMIM:619320
Alexander Disease Type I	Cerebellar atrophy, Hydrocephalus, Abnormal thalamic MRI signal intensity	ORPHA:363717
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Annular pancreas, Renal agenesis, Horseshoe kidney, Pancytopenia, C...	OMIM:227646
Alagille Syndrome	Abnormality of the ureter, Cryptorchidism, Renal hypoplasia/aplasia, Spina bifida occulta, Brachy...	ORPHA:52
Molybdenum Cofactor Deficiency, Type B	Hypouricemia, Increased urinary taurine, Ventriculomegaly, Decreased urinary urate, Increased uri...	OMIM:252160
Hereditary Mucoepithelial Dysplasia	Sparse hair, Alopecia, Fine hair, Hematuria, Abnormality of the bladder	ORPHA:1839
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Caroli Syndrome	Hypersplenism, Leukopenia, Leukocytosis, Hyperbilirubinemia, Abnormal ductus choledochus morpholo...	ORPHA:480520
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Wide nasal bridge, Clitoral hypertrophy, Long penis, Underdeveloped nasal alae,...	OMIM:268300
Foxp1 Syndrome	Decreased circulating iron concentration, Recurrent upper respiratory tract infections, Broad nas...	ORPHA:391372
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	ORPHA:90038
Chung-Jansen Syndrome	Anteverted nares, Cryptorchidism, Short nose	OMIM:617991
Mckusick-Kaufman Syndrome	Hydroureter, Hydrometrocolpos, Transverse vaginal septum, Cryptorchidism, Hydronephrosis, Vaginal...	OMIM:236700
14Q11.2 Microdeletion Syndrome	Depressed nasal bridge, Short nose	ORPHA:261120
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus, Urinary incontinence	OMIM:236690
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Brachycephaly, Frontal bossing, Short nose	OMIM:615539
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dilatation of the renal pelvis, Lateral ventricle dilatation, Dark urine, Hyperbilirubinemia, Ant...	OMIM:619534
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Br...	OMIM:223800
Carey-Fineman-Ziter Syndrome	Ventriculomegaly, Glandular hypospadias, Anteverted nares, Hydronephrosis, Aplasia/Hypoplasia of ...	ORPHA:1358
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Precocious puberty, Wide nasal bridge, Nephrocalcinosis, Abnormality of the urinary system, Cereb...	ORPHA:369837
Smith-Lemli-Opitz Syndrome	Small scrotum, Cryptorchidism, Duplicated collecting system, Holoprosencephaly, Hypospadias, Prec...	OMIM:270400
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate...	OMIM:120330
Hb Bart'S Hydrops Fetalis	Anemia, Splenomegaly, Hydrocephalus, Abnormal hemoglobin	ORPHA:163596
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Ventriculomegaly, Increased circulating IgE level, Decreased FOXP3-expressing T cell count, Eosin...	OMIM:304790
Eiken Syndrome	Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad metatarsal,...	OMIM:600002
Joubert Syndrome 32	Depressed nasal bridge, Abnormal cerebellum morphology, Frontal bossing, Molar tooth sign on MRI	OMIM:617757
Acrofrontofacionasal Dysostosis	Broad nasal tip, Bifid scrotum, Brachycephaly, Dimple on nasal tip, Hypospadias	ORPHA:1784
Alopecia-Intellectual Disability Syndrome	Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Sparse body hair	ORPHA:2850
Spermatogenic Failure 28	Non-obstructive azoospermia, Male infertility	OMIM:618086
Cadds	Ventriculomegaly, Cerebellar atrophy, Adrenal hypoplasia, Increased circulating very long-chain f...	ORPHA:369942
Diaphanospondylodysostosis	Myelomeningocele, Multiple renal cysts	ORPHA:66637
Warburg Micro Syndrome 2	Small scrotum, Prominent nasal bridge, Cryptorchidism, Hypoplastic labia majora, Brachycephaly, M...	OMIM:614225
Gorlin Syndrome	Wide nasal bridge, Cryptorchidism, Abnormality of the sense of smell, Hypogonadotropic hypogonadi...	ORPHA:377
Intellectual Developmental Disorder, Autosomal Dominant 70	Wide nasal bridge, Broad nasal tip, Hypoplasia of the pons, Chiari type I malformation, Hydroceph...	OMIM:620157
Micro Syndrome	Wide nasal bridge, Cerebellar vermis hypoplasia, Abnormal localization of kidney, Anteverted nare...	ORPHA:2510
Trisomy 13	Chiari malformation, Abnormal morphology of female internal genitalia, Abnormality of the ureter,...	ORPHA:3378
Acrofacial Dysostosis, Cincinnati Type	Choanal atresia, Ventriculomegaly, Depressed nasal bridge, Bilateral choanal atresia, Bilateral c...	OMIM:616462
Schöpf-Schulz-Passarge Syndrome	Alopecia, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Difference Of Sex Development-Intellectual Disability Syndrome	Small scrotum, Hypogonadism, Spina bifida occulta, Hypoplasia of penis, Short nose	ORPHA:2983
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Brachycephaly	OMIM:615031
Chondrodysplasia Punctata 1, X-Linked Recessive	Anosmia, Depressed nasal bridge, Hypogonadism, Short nasal septum, Short nose	OMIM:302950
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Unilateral cryptorchidism, Brachycephaly, Plagiocephaly	OMIM:618862
Spondyloepimetaphyseal Dysplasia, Missouri Type	Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin...	OMIM:602111
Joubert Syndrome 27	Dilatation of the renal pelvis, Molar tooth sign on MRI, Frontal bossing	OMIM:617120
Baller-Gerold Syndrome	Brachyturricephaly, Abnormality of the ureter, Narrow nasal bridge, Prominent nasal bridge, Vesic...	ORPHA:1225
Occipital Horn Syndrome	Osteomalacia, Humerus varus, Genu valgum, Pes planus, Abnormal fibula morphology, Short palm, Hip...	ORPHA:198
Humeroradial Synostosis	Wide nasal bridge, Brachycephaly, Renal insufficiency	OMIM:236400
X-Linked Hypohidrotic Ectodermal Dysplasia	Aplasia/Hypoplasia of the eyebrow, Sparse hair, Sparse body hair	ORPHA:181
Metaphyseal Chondrodysplasia, Jansen Type	Choanal atresia, Nephrocalcinosis, Hyperphosphaturia, Brachycephaly, Hypercalciuria, Hypophosphat...	OMIM:156400
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Choanal atresia, Underdeveloped nasal alae, Overhanging nasal tip, Hyperbilirubinemia, Absent gal...	ORPHA:163979
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Plagiocephaly, Brachycephaly, Dolichocephaly, Low hanging columella, Frontal bossing	OMIM:619721
Acrodysostosis 2 With Or Without Hormone Resistance	Depressed nasal bridge, Congenital hypothyroidism, Anteverted nares, Cryptorchidism, Hypospadias,...	OMIM:614613
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Rothmund-Thomson Syndrome, Type 3	Depressed nasal bridge, Anteverted nares, Anisopoikilocytosis, Anemia, Frontal bossing	OMIM:615789
Heterotaxy, Visceral, 1, X-Linked	Renal agenesis, Polysplenia, Horseshoe kidney, Myelomeningocele, Cerebellar hypoplasia, Hydroceph...	OMIM:306955
Developmental And Epileptic Encephalopathy 49	Cerebellar vermis hypoplasia, Ventriculomegaly, Prominent nose, Dysplastic corpus callosum, Hydro...	OMIM:617281
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hypochromic anemia, Abnormal brainstem morphology, Abnormal renal tubule morphology, Aplasia/Hypo...	ORPHA:2720
Adenylosuccinase Deficiency	Cerebellar atrophy, Elevated urinary succinylaminoimidazole carboxamide riboside level, Anteverte...	OMIM:103050
Hydrocephalus, Congenital, 4	Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Cerebellar vermis hypoplasia, Depressed nasal bridge, Broad nasal tip, Hypoplasia of the pons, De...	ORPHA:495875
Toluene Embryopathy	Cryptorchidism, Hydronephrosis, Abnormal localization of kidney, Biparietal narrowing, Short nose	ORPHA:1920
Sweeney-Cox Syndrome	Wide nasal bridge, Choanal atresia, Broad nasal tip, Underdeveloped nasal alae, Bilateral cryptor...	OMIM:617746
Stromme Syndrome	Accessory spleen, Cerebellar vermis hypoplasia, Wide nasal bridge, Bilateral renal hypoplasia, Sh...	OMIM:243605
Chondrodysplasia-Difference Of Sex Development Syndrome	Abnormal pelvic girdle bone morphology, Micromelia, Chorioretinal coloboma, Broad long bones, Abn...	ORPHA:1422
Chromosome 14Q11-Q22 Deletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Plagiocephaly, Elevated circulating thyroid-stimulatin...	OMIM:613457
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia	OMIM:612653
Jacobsen Syndrome	Depressed nasal bridge, Annular pancreas, Trigonocephaly, Short nose, Anteverted nares, Cryptorch...	OMIM:147791
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Nephronophthisis, Acute kidney injur...	OMIM:266920
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Depressed nasal br...	OMIM:614069
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Unilateral renal agenesis, Ventriculomegaly, Abnormal brainstem morphology, Prominent nasal bridg...	ORPHA:464311
Gand Syndrome	Sparse hair	OMIM:615074
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Ventriculomegaly, Plagiocephaly, Cerebellar atrophy, Frontal bossing, Elevated circulating creati...	OMIM:617193
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Hepatosplenomegaly, Stage 5 chronic kidney disease, Multiple glomer...	OMIM:267010
Macrocephaly/Autism Syndrome	Depressed nasal bridge, Frontal bossing, Lymphopenia, Penile freckling, Splenomegaly, Hydrocele t...	OMIM:605309
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Wide nasal bridge, Depressed nasal bridge, Prominent nose, Anteverted nares, Cryptorchidism, Chia...	OMIM:618316
Encephalopathy Due To Sulfite Oxidase Deficiency	Aminoaciduria, Short nose	ORPHA:833
Radial Aplasia, X-Linked	Penile hypospadias, Hydrocephalus	OMIM:312190
Thanatophoric Dysplasia Type 1	Depressed nasal bridge, Ventriculomegaly, Hydrocephalus, Abnormality of the kidney, Frontal bossi...	ORPHA:1860
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Cerebellar vermis hypoplasia, Plagiocephaly, Horseshoe kidney, Cryptorchidism, Penile hypospadias...	OMIM:620083
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis...	ORPHA:399808
1P36 Deletion Syndrome	Wide nasal bridge, Depressed nasal ridge, Ventriculomegaly, Depressed nasal bridge, Annular pancr...	ORPHA:1606
Ciliary Dyskinesia, Primary, 45	Male infertility	OMIM:618801
Emanuel Syndrome	Unilateral renal agenesis, Ventriculomegaly, Renal hypoplasia, Recurrent urinary tract infections...	OMIM:609029
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair	ORPHA:2266
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Cerebellar vermis hypoplasia, Ventriculomegaly, Depressed nasal bridge, Plagiocephaly, Underdevel...	OMIM:619720
Chromosome 1P36 Deletion Syndrome, Distal	Wide nasal bridge, Depressed nasal ridge, Depressed nasal bridge, Lateral ventricle dilatation, F...	OMIM:607872
Congenital Erythropoietic Porphyria	Red-brown urine, Purple urine, Leukopenia, Erythroid hyperplasia, Increased urinary porphobilinog...	ORPHA:79277
Muenke Syndrome	Coronal craniosynostosis, Brachycephaly, Plagiocephaly, Cloverleaf skull	OMIM:602849
Cerebrooculonasal Syndrome	Brachycephaly, Hypoplasia of penis, Abnormal nostril morphology	ORPHA:66625
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Frontal bossing, Hydrocephalus	ORPHA:2181
16P13.11 Microdeletion Syndrome	Depressed nasal bridge, Ventriculomegaly, Anteverted nares, Cryptorchidism, Agenesis of corpus ca...	ORPHA:261236
Joubert Syndrome 22	Agenesis of cerebellar vermis, Renal hypoplasia, Molar tooth sign on MRI	OMIM:615665
Bardet-Biedl Syndrome 6	External genital hypoplasia, Renal cyst, Vaginal atresia, Hypospadias, Diabetes mellitus	OMIM:605231
Intellectual Developmental Disorder, Autosomal Dominant 1	Cerebellar vermis hypoplasia, Depressed nasal ridge, Bulbous nose, Prominent nose, Short columell...	OMIM:156200
Nicolaides-Baraitser Syndrome	Highly arched eyebrow, Alopecia, Long eyelashes, Curly eyelashes, Abnormal hair pattern, Sparse hair	ORPHA:3051
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Neonatal death, Renal cyst, Stillb...	OMIM:614922
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Oligozoospermia, Male infertility	ORPHA:48
Combined Oxidative Phosphorylation Deficiency 55	Depressed nasal bridge, Ventriculomegaly, Proximal tubulopathy, Organic aciduria, Hypomagnesemia,...	OMIM:619743
Epidermal Nevus Syndrome	Polycystic kidney dysplasia	ORPHA:35125
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Depressed nasal bridge, Brachycephaly, Elevated circulating creatine kinase concentration	OMIM:620240
Tetrasomy 15Q26	Horseshoe kidney, Hydronephrosis, Hydrocephalus, Dandy-Walker malformation	OMIM:614846
Encephalocraniocutaneous Lipomatosis	Cryptorchidism, Agenesis of corpus callosum, Cerebellar hypoplasia, Hydronephrosis, Hydrocephalus...	OMIM:613001
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Ventriculomegaly, Plagiocephaly, Cerebellar atrophy, Renal tubular acidosis, Hyperammonemia, Hype...	OMIM:615471
Maxillonasal Dysplasia	Depressed nasal bridge, Depressed nasal ridge, Short columella, Abnormal nostril morphology, Shor...	ORPHA:1248
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair	OMIM:619985
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Ventriculomegaly, Depressed nasal bridge, Decreased proportion o...	ORPHA:508533
Dyrk1A-Related Intellectual Disability Syndrome	Unilateral renal agenesis, Ventriculomegaly, Hypoplasia of the brainstem, Breast hypoplasia, Narr...	ORPHA:464306
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Depressed nasal bridge, Anteverted nares, Vesicoureteral reflux, Brachycephaly, Flat occiput	OMIM:618797
Walker-Warburg Syndrome	Ventriculomegaly, Abnormal circulating creatine kinase concentration, Cryptorchidism, Agenesis of...	ORPHA:899
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Depressed nasal bridge, Ventriculomegaly, Plagiocephaly, Bulbous nose, Anteverted nares, Cryptorc...	OMIM:620224
Genitopatellar Syndrome	Small scrotum, Clitoral hypertrophy, Multicystic kidney dysplasia, Prominent nose, Prominent nasa...	ORPHA:85201
Jacobsen Syndrome	Wide nasal bridge, Ventriculomegaly, Multicystic kidney dysplasia, Annular pancreas, Broad colume...	ORPHA:2308
Multiple Sulfatase Deficiency	Increased CSF protein concentration, Ventriculomegaly, Cerebellar atrophy, Anteverted nares, Sple...	OMIM:272200
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Spherocytosis, Splenomegaly, Nasal congestion	ORPHA:66518
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Czeizel-Losonci Syndrome	Abnormality of the urinary system, Ureteral agenesis, Myelomeningocele, Thin calvarium, Hydroneph...	ORPHA:2437
Trichothiodystrophy 4, Nonphotosensitive	Small nail, Trichorrhexis nodosa, Concave nail, Nail dystrophy, Sparse eyelashes, Nail dysplasia,...	OMIM:234050
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Anosmia, Bifid scrotum, Hypogonadotropic hypogonadism, Abnormal nostril morphology, Hypoplasia of...	ORPHA:1295
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Fib...	ORPHA:2634
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Glomerular sclerosis, Increased blood urea nitroge...	OMIM:223900
Baker-Gordon Syndrome	Prominent nasal tip, Short nose	OMIM:618218
Primary Ciliary Dyskinesia	Ventriculomegaly, Abnormal sperm motility, Female infertility, Nasal polyposis, Polysplenia, Nasa...	ORPHA:244
Pontocerebellar Hypoplasia, Type 10	Wide nasal bridge, Ventriculomegaly, Underdeveloped nasal alae, Bulbous nose, Cryptorchidism, Low...	OMIM:615803
Mosaic Variegated Aneuploidy Syndrome	Depressed nasal ridge, Ventriculomegaly, Multicystic kidney dysplasia, Vaginal neoplasm, Nephrobl...	ORPHA:1052
Cornelia De Lange Syndrome 1	Choanal atresia, Renal hypoplasia, Depressed nasal bridge, Hypoplastic male external genitalia, A...	OMIM:122470
Kaufman Oculocerebrofacial Syndrome	Depressed nasal bridge, Ventriculomegaly, Clitoral hypertrophy, Hypocholesterolemia, Anteverted n...	OMIM:244450
Osteogenesis Imperfecta, Type Ii	Abnormal pelvic girdle bone morphology, Broad long bones, Congestive heart failure, Tibial bowing...	OMIM:166210
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration	OMIM:313200
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Cerebellar vermis hypoplasia, Ventriculomegaly, Choanal atresia, Annular pancreas, Hypoplasia of ...	OMIM:616975
Albers-Schönberg Osteopetrosis	Hypocalcemia, Abnormal leukocyte morphology, Hydrocephalus, Anemia, Frontal bossing	ORPHA:53
Chiari Malformation Type Ii	Cervical myelopathy, Chiari malformation, Myelomeningocele, Agenesis of corpus callosum, Hydrocep...	OMIM:207950
Chromosome 6Q11-Q14 Deletion Syndrome	Prominent nasal bridge, Broad nasal tip, Short nose, Bilateral cryptorchidism	OMIM:613544
Absent Eyebrows And Eyelashes With Impaired Intellectual Development	Encephalocele, Convex nasal ridge, Short nose	OMIM:200130
Pontocerebellar Hypoplasia, Type 2E	Ventriculomegaly, Cerebellar atrophy, Short nose, Wide nose	OMIM:615851
Craniofrontonasal Syndrome	Wide nasal bridge, Coronal craniosynostosis, Bifid nasal tip, Frontal bossing, Breast hypoplasia,...	OMIM:304110
Trichothiodystrophy 5, Nonphotosensitive	Sparse eyebrow, Reduced hair sulfur content, Tiger tail banding, Slow-growing hair, Brittle hair,...	OMIM:300953
Down Syndrome	Depressed nasal ridge, Depressed nasal bridge, Polycythemia, Decreased fertility, Type II diabete...	ORPHA:870
Monosomy 18P	Wide nasal bridge, Brachycephaly, Hypothyroidism, Holoprosencephaly	ORPHA:1598
Hemochromatosis, Type 1	Increased circulating iron concentration, Increased circulating ferritin concentration, Azoosperm...	OMIM:235200
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse eyebrow, Sparse body hair, Sparse eyelashes, Scarring alopecia of scalp, Sparse scalp hair	ORPHA:59303
Eem Syndrome	Absent eyebrow, Sparse scalp hair, Sparse body hair	ORPHA:1897
Kleefstra Syndrome 1	Anteverted nares, Cryptorchidism, Abnormal renal morphology, Brachycephaly, Micropenis, Hypospadias	OMIM:610253
Rh-Null, Amorph Type	Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia	OMIM:617970
Bazex-Dupre-Christol Syndrome	Coarse hair, Trichorrhexis nodosa, Pili torti, Sparse hair, Trichoepithelioma	OMIM:301845
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Musculocontractural Ehlers-Danlos Syndrome	Ventriculomegaly, Functional abnormality of the bladder, Horseshoe kidney, Cryptorchidism, Nephro...	ORPHA:2953
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
3-Methylglutaconic Aciduria Type 7	Bone marrow hypocellularity, Nephrocalcinosis, Infection associated neutropenia, Cerebellar atrop...	ORPHA:445038
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Craniosynostosis, Brachycephaly, Occipital encephalocele	OMIM:614416
Prolidase Deficiency	Depressed nasal bridge, Splenomegaly, Increased circulating antibody level, Thrombocytopenia, Hyp...	OMIM:170100
9Q33.3Q34.11 Microdeletion Syndrome	Small scrotum, Epistaxis, Plagiocephaly, Cerebellar vermis atrophy, Bulbous nose, Cryptorchidism,...	ORPHA:495818
Cystic Echinococcosis	Abnormality of the testis size, Hyperbilirubinemia, Hepatic cysts, Splenic cyst, Ovarian cyst, Re...	ORPHA:400
Filippi Syndrome	Frontal hirsutism, Sparse hair, Hypertrichosis	OMIM:272440
Frontonasal Dysplasia 3	Wide nasal bridge, Brachycephaly, Underdeveloped nasal alae	OMIM:613456
Meckel Syndrome	Accessory spleen, Depressed nasal ridge, Multicystic kidney dysplasia, Cryptorchidism, Encephaloc...	ORPHA:564
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypocholesterolemia, Acanthocytosis, Decreased LDL chole...	OMIM:615558
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora...	OMIM:300554
Cryohydrocytosis	Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia	OMIM:185020
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Choanal atresia, Depressed nasal bridge, Bifid scrotum, Anteverted nares, Cryptorchidism, Promine...	ORPHA:1555
Fliedner-Zweier Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Cerebellar atrophy, Bulbous nose, Hydron...	OMIM:620511
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Fibular hypoplasia, Ta...	OMIM:227270
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Wide nasal bridge, Bulbous nose, Anteverted nares, Frontal bossing, Short nose	OMIM:613604
Ohdo Syndrome	Wide nasal bridge, Small scrotum, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Prote...	OMIM:249620
Galloway-Mowat Syndrome 4	Focal segmental glomerulosclerosis, Plagiocephaly, Stage 5 chronic kidney disease, Congenital nep...	OMIM:617730
Teebi Hypertelorism Syndrome 2	Depressed nasal bridge, Broad nasal tip, Hypospadias, Short nose	OMIM:619736
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Multicystic kidney dysplasia, Lateral ventricle dilatation, Enlarged cerebellum, Cryptorchidism, ...	ORPHA:261537
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Cryptorchidism, Agenesis of corpus callosum, Hydrocephalus, Hypoplasia of penis, Holoprosencephal...	ORPHA:77298
Hyperphosphatasia-Intellectual Disability Syndrome	Wide nasal bridge, Plagiocephaly, Supernumerary nipple, Bulbous nose, Prominent nasal bridge, Hyd...	ORPHA:247262
Classic Galactosemia	Cryptorchidism, Abnormal erythrocyte enzyme concentration or activity, Decreased fertility in fem...	ORPHA:79239
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus, Abnormal mast cell morphology	ORPHA:398189
Bifid Nose With Or Without Anorectal And Renal Anomalies	Precocious puberty, Unilateral renal agenesis, Renal agenesis, Bulbous nose, Brachycephaly, Bifid...	OMIM:608980
Non-Acquired Isolated Growth Hormone Deficiency	Sparse hair, Microphallus	ORPHA:631
Zellweger Syndrome	Wide nasal bridge, Depressed nasal bridge, Clitoral hypertrophy, Multicystic kidney dysplasia, Pr...	ORPHA:912
Marden-Walker Syndrome	Abnormal penis morphology, Multicystic kidney dysplasia, Abnormality of the urinary system, Hydro...	ORPHA:2461
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Depressed nasal bridge, Hypopituitarism, Decreased thyroid-stimulating hormone level, Anteverted ...	OMIM:613038
Distal Deletion 3P	Brachycephaly, Ventriculomegaly, Cryptorchidism, Anteverted nares	ORPHA:1620
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Long eyelashes, Thick eyebrow, Hirsutism, Low anterior hairline, Sparse hair	OMIM:616819
Neurofibromatosis, Type I	Pheochromocytoma, Renal artery stenosis, Hydrocephalus, Parathyroid adenoma, Spina bifida, Aquedu...	OMIM:162200
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto...	OMIM:185000
Renal Coloboma Syndrome	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal...	ORPHA:1475
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Depressed nasal ridge, Aplasia/Hypoplasia involving the nose, Short nose	ORPHA:1529
Proteus-Like Syndrome	Thymus hyperplasia, Abnormality of the parathyroid gland, Anteverted nares, Splenomegaly, Polycys...	ORPHA:2969
Uremic Pruritus	Chronic kidney disease, Renal hypophosphatemia, Hypermagnesemia, Stage 5 chronic kidney disease, ...	ORPHA:94059
Malan Syndrome	Ventriculomegaly, Short nose	OMIM:614753
Peters Plus Syndrome	Depressed nasal bridge, Ventriculomegaly, Multicystic kidney dysplasia, Frontal bossing, Congenit...	ORPHA:709
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration	Decreased LDL cholesterol concentration, Acanthocytosis	OMIM:607236
Craniosynostosis 2	Unicoronal synostosis, Trigonocephaly, Bicoronal synostosis, Turricephaly, Brachycephaly, Cranios...	OMIM:604757
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Unilateral renal agenesis, Ventriculomegaly, Plagiocephaly, Anteverted nares, Aplasia of the vagi...	ORPHA:457284
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Reduce...	OMIM:277000
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1	Cerebellar hypoplasia, Plagiocephaly, Hypoplasia of the pons	OMIM:607313
ERI1-related disease	Depressed nasal bridge, Trigonocephaly, Vesicoureteral reflux, Hydronephrosis, Brachycephaly, Fro...	OMIM:608739
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Azoospermia, Male infertility	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Male infertility	OMIM:277180
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cerebellar atrophy, Cryptorchidism, 3-Methylglutaconic aciduria, Delayed puberty, Short nose	ORPHA:496790
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyly, Talipes equinovaru...	OMIM:119800
Osteogenesis Imperfecta, Type V	Osteopenia, Abnormal pelvic girdle bone morphology, Anterior radial head dislocation, Pes planus,...	OMIM:610967
Fg Syndrome Type 1	Small pituitary gland, Choanal atresia, Ventriculomegaly, Plagiocephaly, Prominent nose, Abnormal...	ORPHA:93932
Lesch-Nyhan Syndrome	Nephrocalcinosis, Hyperuricemia, Nephrolithiasis, Hyperuricosuria, Megaloblastic anemia, Testicul...	OMIM:300322
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Renal agenesis, Horseshoe kidney, Pancytopenia, Cryptorchidism, Abn...	OMIM:227650
Joubert Syndrome 10	Wide nasal bridge, Cerebellar vermis hypoplasia, Frontal bossing, Molar tooth sign on MRI	OMIM:300804
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal penis morphology, Depressed nasal ridge, Wide nasal bridge, Bifid scrotum, Encephalocele...	ORPHA:2211
Metatropic Dysplasia	Depressed nasal bridge, Hydrocephalus	ORPHA:2635
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Ventriculomegaly, Occipital encephalocele, Hypoplasia of the brainstem, Cerebellar malformation, ...	OMIM:236670
Spermatogenic Failure 13	Azoospermia, Male infertility	OMIM:615841
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Wide nasal bridge, Supernumerary nipple, Enlarged cerebellum, Narrow nasal tip, Anteverted nares,...	ORPHA:477993
Oculocerebrocutaneous Syndrome	Ventriculomegaly, Calvarial skull defect, Cryptorchidism, Cerebellar hypoplasia, Hydrocephalus, A...	ORPHA:1647
Craniopharyngioma	Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Central adrenal ins...	ORPHA:54595
1Q21.1 Microdeletion Syndrome	Wide nasal bridge, Bulbous nose, Vesicoureteral reflux, Cryptorchidism, Agenesis of corpus callos...	ORPHA:250989
15Q Overgrowth Syndrome	Wide nasal bridge, Ureterovesical stenosis, Horseshoe kidney, Nephroblastoma, Agenesis of corpus ...	ORPHA:314585
Moebius Syndrome	Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,...	OMIM:157900
Alg9-Cdg	Depressed nasal bridge, Ureteral hypoplasia, Hypoplasia of the bladder, Cerebellar atrophy, Under...	ORPHA:79328
Acromicric Dysplasia	Bulbous nose, Anteverted nares, Short nose	ORPHA:969
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Depressed nasal bridge, Ventriculomegaly, Renal hypoplasia, Uterus didelphys, Cryptorchidism, Age...	ORPHA:93271
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ...	OMIM:201750
Progeroid Syndrome, Petty Type	Abnormal hair morphology, Thick eyebrow, Long eyelashes in irregular rows, Generalized hirsutism,...	ORPHA:2963
Degcags Syndrome	Chronic kidney disease, Hepatosplenomegaly, Pancytopenia, Hyperbilirubinemia, Cryptorchidism, Age...	OMIM:619488
Monosomy 9P	Choanal atresia, Depressed nasal bridge, Trigonocephaly, Anteverted nares, Calvarial skull defect...	ORPHA:261112
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Depressed nasal bridge, Plagiocephaly, Hydroureter, Bulbous nose, Anteverted nares, Prominent nas...	OMIM:610759
Trichohepatoenteric Syndrome 2	Sparse hair, Trichorrhexis nodosa, Uncombable hair, Brittle hair, Woolly hair	OMIM:614602
Omodysplasia 1	Rhizomelia, Short tibia, Limited knee flexion/extension, Micrognathia, Short humerus, Fibular hyp...	OMIM:258315
Harel-Yoon Syndrome	Cerebellar atrophy, Short nose, Frontal bossing	OMIM:617183
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis, Early ossification of capital fe...	OMIM:208500
Mody	Abnormal circulating insulin concentration, Nephropathy, Pancreatic hypoplasia, Insulin-resistant...	ORPHA:552
Bone Marrow Failure Syndrome 5	Hypogonadism, Erythroid hypoplasia, Anemia, Pure red cell aplasia, Testicular atrophy	OMIM:618165
Trichothiodystrophy 8, Nonphotosensitive	Trichorrhexis nodosa, Woolly hair, Sparse eyebrow, Sparse hair	OMIM:619691
Hypomandibular Faciocranial Dysostosis	Abnormal morphology of female internal genitalia, Trigonocephaly, Anteverted nares, Brachycephaly...	ORPHA:1790
Optic Pathway Glioma	Precocious puberty, Hydrocephalus	ORPHA:2086
Blepharocheilodontic Syndrome 1	High anterior hairline, Small nail, Nail dysplasia, Distichiasis, Sparse hair	OMIM:119580
Nephronophthisis 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico...	OMIM:604387
Congenital Bile Acid Synthesis Defect Type 2	Extramedullary hematopoiesis, Hyperbilirubinemia, Dark urine, Abnormal serum bile acid concentrat...	ORPHA:79303
Spermatogenic Failure, X-Linked, 4	Azoospermia, Male infertility	OMIM:301077
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy...	ORPHA:90044
Orofaciodigital Syndrome Xvi	Depressed nasal bridge, Ventriculomegaly, Molar tooth sign on MRI	OMIM:617563
Adnp Syndrome	Depressed nasal bridge, Ventriculomegaly, Plagiocephaly, Recurrent upper respiratory tract infect...	ORPHA:404448
Aarskog-Scott Syndrome	Wide nasal bridge, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decr...	OMIM:305400
Myopathy, Centronuclear, X-Linked	Dolichocephaly, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation	OMIM:310400
Amme Complex	Hematuria, Depressed nasal bridge, Elliptocytosis	OMIM:300194
Fanconi Anemia	Cryptorchidism, Renal hypoplasia/aplasia, Hypospadias, Decreased fertility in males, Abnormality ...	ORPHA:84
Noonan Syndrome With Multiple Lentigines	Wide nasal bridge, Decreased fertility, Cryptorchidism, Brachycephaly, Spina bifida occulta, Abno...	ORPHA:500
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Depressed nasal bridge, Underdeveloped nasal alae, Decreased response to growth hormone stimulati...	OMIM:615866
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Skin Creases, Congenital Symmetric Circumferential, 1	Cerebellar vermis atrophy, Depressed nasal bridge, Brachycephaly, Dandy-Walker malformation	OMIM:156610
Arachnoiditis	Hydrocephalus, Urinary bladder sphincter dysfunction	ORPHA:137817
Kaposiform Lymphangiomatosis	Epistaxis, Hepatosplenomegaly, Splenomegaly, Metrorrhagia, Abnormal spleen morphology, Multiple r...	ORPHA:464329
Acheiropodia	Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia...	ORPHA:931
Fetal Valproate Spectrum Disorder	Depressed nasal ridge, Short nose	ORPHA:1906
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Skull asymmetry, Anteverted nares, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation	OMIM:612938
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Multicystic kidney dysplasia, Lateral ventricle dilatation, Enlarged cerebellum, Cryptorchidism, ...	ORPHA:261552
Schinzel-Giedion Syndrome	Ventriculomegaly, Broad nasal tip, Central hypothyroidism, Annular pancreas, Frontal bossing, Abn...	ORPHA:798
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Fibular aplasia, Micrognathia, Apl...	ORPHA:3320
Linear Skin Defects With Multiple Congenital Anomalies 2	Short nose, Agenesis of corpus callosum	OMIM:300887
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair	OMIM:613576
Say Syndrome	Cystic renal dysplasia, Proximal renal tubular acidosis	OMIM:181180
Donnai-Barrow Syndrome	Depressed nasal bridge, Abnormality of the uterus, Proteinuria, Bicornuate uterus, Short nose	ORPHA:2143
Cardiocranial Syndrome, Pfeiffer Type	Micropenis, Abnormal hair whorl, Sparse hair, Hypospadias	ORPHA:2872
Alpha-Mannosidosis, Infantile Form	Depressed nasal bridge, Chiari malformation, Oligosacchariduria, Cerebellar atrophy, Recurrent ur...	ORPHA:309282
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Short nose	ORPHA:2429
Vacterl/Vater Association	Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Bifid scrotum, Abnormal...	ORPHA:887
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:620197
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Wide nasal bridge, Inferior cerebellar vermis hypoplasia, Bulbous nose, Dolichocephaly, Frontal b...	OMIM:618571
Ulbright-Hodes Syndrome	Abnormal penis morphology, Depressed nasal bridge, Clitoral hypertrophy, Renal hypoplasia, Enlarg...	ORPHA:3404
Teebi Hypertelorism Syndrome 1	Wide nasal bridge, Coronal craniosynostosis, Depressed nasal bridge, Anteverted nares, Sagittal c...	OMIM:145420
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f...	OMIM:206920
Fryns Syndrome	Wide nasal bridge, Ectopic pancreatic tissue, Renal agenesis, Polysplenia, Bifid scrotum, Antever...	OMIM:229850
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Sparse hair	OMIM:273390
Triploidy	Cryptorchidism, Ambiguous genitalia, Hydrocephalus, Meningocele, Hypoplasia of penis, Holoprosenc...	ORPHA:3376
Al Kaissi Syndrome	Wide nasal bridge, Depressed nasal bridge, Brachycephaly, Broad nasal tip	OMIM:617694
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Abnormal pelvic girdle bone morphology, Rhizomelia, Stippled calcification proximal h...	OMIM:222765
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad...	OMIM:614527
Fg Syndrome 3	Sparse hair, Frontal upsweep of hair, Fine hair	OMIM:300406
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Bone marrow hypocellularity, Decreased circulating IgG level, Heparan sulfate excretion in urine,...	ORPHA:505248
Pseudotrisomy 13 Syndrome	Renal hypoplasia, Renal agenesis, Cryptorchidism, Encephalocele, Agenesis of corpus callosum, Cer...	OMIM:264480
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus	ORPHA:99947
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Cerebellar vermis hypoplasia, Depressed nasal bridge, Cerebellar atrophy, Cerebellar hypoplasia, ...	OMIM:618590
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Stomatocytosis, Hypoglycorrhachia, Splenomegaly, Conjugated hyperbilirubinemia, Hyperkalemia, Hem...	OMIM:608885
Diaphanospondylodysostosis	Depressed nasal ridge, Depressed nasal bridge, Nephroblastomatosis, Horseshoe kidney, Nephrogenic...	OMIM:608022
Ruvalcaba Syndrome	Cryptorchidism, Hematuria, Delayed puberty, Convex nasal ridge, Abnormal localization of kidney, ...	ORPHA:3121
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Cerebellar atrophy, Lateral ventricle dilatation	OMIM:618367
Krabbe Disease	Increased CSF protein concentration, Autoimmune thrombocytopenia, Hydrocephalus	OMIM:245200
Pyropoikilocytosis, Hereditary	Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis	OMIM:266140
Developmental And Epileptic Encephalopathy 31B	Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum	OMIM:620352
Abetalipoproteinemia	Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co...	ORPHA:14
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Sparse eyebrow, High anterior hairline, Small nail, Horseshoe kidney, Sparse eyelashes, Renal cys...	OMIM:250410
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal cyst, Renal insufficiency	OMIM:611773
Gapo Syndrome	Depressed nasal bridge, Ventriculomegaly, Plagiocephaly, Anteverted nares, Tubulointerstitial fib...	OMIM:230740
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, E...	OMIM:174000
Axenfeld-Rieger Syndrome, Type 2	Wide nasal bridge, Hypospadias, Hydrocephalus, Cryptorchidism	OMIM:601499
Harrod Syndrome	Long nose, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism	ORPHA:2115
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Bulbous nose, Agenesis of corpus callosum, Cerebellar hypoplasia, Chiari type I...	OMIM:618476
Exstrophy-Epispadias Complex	Abnormality of the ureter, Cryptorchidism, Abnormality of the kidney, Urinary incontinence, Renal...	ORPHA:322
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Depressed nasal bridge, Ventriculomegaly, Broad nasal tip, Trigonocephaly, Bulbous nose, Cryptorc...	OMIM:309590
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ...	ORPHA:90797
Neonatal Lupus Erythematosus	Aplastic anemia, Pancytopenia, Splenomegaly, Hydrocephalus, Neutropenia, Thrombocytopenia, Anemia...	ORPHA:398124
Icf Syndrome	Depressed nasal bridge, Abnormality of neutrophils, Lymphopenia, Anemia, Communicating hydrocepha...	ORPHA:2268
Tricho-Retino-Dento-Digital Syndrome	Sparse hair, Uncombable hair	ORPHA:1264
Aica-Ribosiduria	Brachycephaly, Clitoral hypertrophy, Fused labia minora	ORPHA:250977
Otopalatodigital Syndrome Type 2	Depressed nasal bridge, Myelomeningocele, Ureteral obstruction, Encephalocele, Cerebellar hypopla...	ORPHA:90652
Cree Impaired Intellectual Development Syndrome	Brachycephaly, Hypospadias, Cryptorchidism, Bifid scrotum	OMIM:606851
Muscle-Eye-Brain Disease	Holoprosencephaly, Meningocele, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus	ORPHA:588
Cortical Dysplasia, Complex, With Other Brain Malformations 13	Cerebellar vermis hypoplasia, Plagiocephaly, Hypoplasia of the brainstem	OMIM:614563
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Wide nasal bridge, Supernumerary nipple, Anteverted nares, Cryptorchidism, Brachycephaly, Chordee...	OMIM:616728
Rhizomelic Limb Shortening With Dysmorphic Features	Wide nasal bridge, Plagiocephaly, Stage 1 chronic kidney disease	OMIM:618821
Ciliary Dyskinesia, Primary, 34	Immotile sperm, Male infertility	OMIM:617091
Trisomy 8P	Depressed nasal bridge, Nephrocalcinosis, Recurrent upper respiratory tract infections, Annular p...	ORPHA:264450
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Sparse hair, Brittle hair, Coarse hair	ORPHA:1883
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Bulbous nose, Agenesis of corpus callosum, Colpocephaly, Long nose, Partial agenesis of the corpu...	OMIM:620113
Cutis Laxa, Autosomal Recessive, Type Iib	Bulbous nose, Agenesis of corpus callosum, Narrow nasal ridge, Hydrocephalus, Frontal bossing	OMIM:612940
Oculocerebrorenal Syndrome Of Lowe	Cryptorchidism, Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Flat occiput, Amino...	ORPHA:534
Tenorio Syndrome	Ventriculomegaly, Anteverted nares, Hydrocephalus, Enuresis, Wide nose	OMIM:616260
Aminopterin/Methotrexate Embryofetopathy	Wide nasal bridge, Spinal dysraphism, Encephalocele, Aplasia/Hypoplasia of the cerebellum, Hydroc...	ORPHA:1908
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis	OMIM:617948
Abetalipoproteinemia	Acanthocytosis, Abetalipoproteinemia	OMIM:200100
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Wide nasal bridge, Enlarged naris, Short columella, Brachycephaly, Slender nose	ORPHA:562528
Hydrolethalus	Cryptorchidism, Abnormality of the sense of smell, Agenesis of corpus callosum, Abnormal fallopia...	ORPHA:2189
Doors Syndrome	Wide nasal base, Adrenal hyperplasia, Broad nasal tip, Bulbous nose, Increased urine alpha-ketogl...	ORPHA:79500
Intellectual Developmental Disorder, Autosomal Dominant 53	Posterior plagiocephaly, Cryptorchidism, Hydronephrosis, Brachycephaly, Micropenis	OMIM:617798
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Highly arched eyebrow, Alopecia, Sparse lateral eyebrow, Dystrophic toenail, Abnormality of the u...	ORPHA:3253
Vulto-Van Silfhout-De Vries Syndrome	Brachycephaly, Frontal bossing	OMIM:615828
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Micropenis, Bulbous nose, Prominent nasal bridge, Short nose	OMIM:613870
Elliptocytosis 2	Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
Cdags Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Parietal foramina, Frontal bossing, Rectou...	OMIM:603116
Cornelia De Lange Syndrome	Choanal atresia, Ventriculomegaly, Multicystic kidney dysplasia, Depressed nasal bridge, Abnormal...	ORPHA:199
Anauxetic Dysplasia 2	Nail dysplasia, Sparse hair, Small nail	OMIM:617396
3P25.3 Microdeletion Syndrome	Depressed nasal bridge, Abnormal thalamus morphology, Prominent nose, Anteverted nares, Brachycep...	ORPHA:435638
Immunodeficiency 96	Decreased circulating IgG level, Multicystic kidney dysplasia, Increased proportion of gamma-delt...	OMIM:619774
Osteopetrosis, Autosomal Dominant 2	Abnormal pelvic girdle bone morphology, Generalized osteosclerosis, Osteopetrosis, Fractures of t...	OMIM:166600
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Agenesis of corpus callosum, Ovotestis, Colpocephaly, Chordee, Hydrocephalu...	OMIM:309801
Achondroplasia	Depressed nasal bridge, Anteverted nares, Parietal bossing, Hydrocephalus, Frontal bossing, Short...	ORPHA:15
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent nipple, Sparse lateral eyebrow, Sparse body hair, Sparse eyelashes, Absent eyelashes, Hypo...	OMIM:614941
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Hypoplasia of the brainstem, Anteverted nares, Cerebellar hypoplasia, Hypothyroidism, Delayed pub...	ORPHA:391408
Cronkhite-Canada Syndrome	Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toena...	ORPHA:2930
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Ventriculomegaly, Cholelithiasis, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Az...	ORPHA:2072
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Depressed nasal bridge, HbH hemoglobin, Renal agenesis, Anteverted nares, Cryptorchidism, Hydrone...	OMIM:301040
Osteopathia Striata-Cranial Sclerosis Syndrome	Wide nasal bridge, Facial hyperostosis, Thickened calvaria, Brachycephaly, Spina bifida occulta, ...	ORPHA:2780
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Depressed nasal bridge, Nephrocalcinosis, Hypercalciuria, Elliptocytosis, Anemia, Renal dysplasia	OMIM:300990
Hamamy Syndrome	Wide nasal bridge, Hypochromic anemia, Microcytic anemia, Anteverted nares, Cryptorchidism, Brach...	OMIM:611174
Baller-Gerold Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Chiari malformation, Brachyturricephaly, U...	OMIM:218600
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Splenomegaly, Hypocalcemia, Hydrocephalus, Thrombocytopenia, Anemia, Craniosynostos...	OMIM:259700
Transketolase Deficiency	Increased level of ribose in urine, Type I diabetes mellitus, Elevated circulating ribitol concen...	ORPHA:488618
Coffin-Siris Syndrome	Wide nasal base, Depressed nasal bridge, Recurrent upper respiratory tract infections, Broad nasa...	ORPHA:1465
Achondrogenesis	Anteverted nares, Frontal bossing, Short nose	ORPHA:932
Thrombocytopenia-Absent Radius Syndrome	Cerebellar vermis hypoplasia, Dilatation of the renal pelvis, Horseshoe kidney, Hepatosplenomegal...	OMIM:274000
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Wide nasal bridge, Depressed nasal ridge, Plagiocephaly, Underdeveloped nasal alae	ORPHA:77300
Congenital Disorder Of Glycosylation, Type Iu	Cerebellar hypoplasia, Short nose, Elevated circulating creatine kinase concentration	OMIM:615042
Autosomal Recessive Omodysplasia	Depressed nasal bridge, Anteverted nares, Cryptorchidism, Craniosynostosis, Frontal bossing, Shor...	ORPHA:93329
Rh-Null, Regulator Type	Unconjugated hyperbilirubinemia, Stomatocytosis, Hemolytic anemia	OMIM:268150
Non-Distal Duplication 13Q	Trigonocephaly, Cryptorchidism, Short nose	ORPHA:1702
Ichthyosis, Congenital, Autosomal Recessive 1	Nail dysplasia, Alopecia, Sparse hair, Nail dystrophy	OMIM:242300
Monosomy 9Q22.3	Ventriculomegaly, Chiari malformation, Trigonocephaly, Nephroblastoma, Hydrocephalus, Short nose	ORPHA:77301
Rapp-Hodgkin Syndrome	Sparse hair, Sparse eyebrow, Small nail, Decreased number of sweat glands, Supernumerary nipple, ...	OMIM:129400
19P13.13 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Chiari type I malformation, Brachycephaly, Dolichocepha...	ORPHA:357001
Griscelli Syndrome	Bone marrow hypocellularity, Leukopenia, Splenomegaly, Encephalocele, Hydrocephalus, Thrombocytop...	ORPHA:381
Cardiofaciocutaneous Syndrome	Depressed nasal bridge, Frontal bossing, Anteverted nares, Cryptorchidism, Hydronephrosis, Hydroc...	ORPHA:1340
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Wide nasal bridge, Depressed nasal bridge, Ureteral triplication, Hydronephrosis, Hydrocephalus	OMIM:104350
Tetrasomy 5P	Wide nasal bridge, Anteverted nares, Cerebellar hypoplasia, Hydrocephalus, Short nose	ORPHA:3309
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cerebellar hypoplasia, Agenesis of corpus callosum, Hydrocephalus, Hypoplasia of the brainstem	OMIM:615249
Gaucher Disease, Perinatal Lethal	Depressed nasal bridge, Ventriculomegaly, Hepatosplenomegaly, Anteverted nares, Splenomegaly, Thr...	OMIM:608013
Jaberi-Elahi Syndrome	Depressed nasal bridge, Cerebellar vermis atrophy, Substantia nigra hypointensity on susceptibili...	OMIM:617988
2Q37 Microdeletion Syndrome	Depressed nasal bridge, Multicystic kidney dysplasia, Broad columella, Underdeveloped nasal alae,...	ORPHA:1001
Mcleod Syndrome	Acanthocytosis, Splenomegaly, Reduced haptoglobin level, Elevated circulating creatine kinase con...	OMIM:300842
Hurler Syndrome	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Cranial hyperostosis, Heparan sulfate...	OMIM:607014
Multiple Sulfatase Deficiency	Depressed nasal bridge, Anteverted nares, Splenomegaly, Mucopolysacchariduria, Hydrocephalus	ORPHA:585
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Depressed nasal bridge, Ureteral hypoplasia, Cerebellar atrophy, Anteverted nares, Vesicoureteral...	OMIM:614080
Trisomy 10P	Depressed nasal bridge, Abnormality of the nose, Anteverted nares, Absent gallbladder, Multiple r...	ORPHA:171929
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Multicystic kidney dysplasia, Acute kidney injury, Absent vas deferens, Abnormality of endocrine ...	ORPHA:93111
Marshall Syndrome	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Thickened calvaria, Brachycephaly, F...	ORPHA:560
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Sparse eyebrow, Sparse hair	OMIM:619989
Branchio-Oculo-Facial Syndrome	Wide nasal bridge, Multicystic kidney dysplasia, Broad nasal tip, Renal agenesis, Hydronephrosis,...	ORPHA:1297
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Ventriculomegaly, Frontal bossing, Hydrocephalus	OMIM:603387
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism, Short nose	OMIM:300143
Choreoacanthocytosis	Acanthocytosis, Elevated circulating creatine kinase concentration	OMIM:200150
Summitt Syndrome	Depressed nasal ridge, Plagiocephaly, Craniosynostosis, Wide nose	ORPHA:3210
Schinzel-Giedion Midface Retraction Syndrome	Small scrotum, Ventriculomegaly, Depressed nasal bridge, Hydroureter, Ureteral stenosis, Antevert...	OMIM:269150
Meckel Syndrome, Type 5	Renal cyst, Occipital encephalocele, Anencephaly	OMIM:611561
Fanconi Anemia, Complementation Group L	Wide nasal bridge, Unilateral renal agenesis, Renal hypoplasia, Depressed nasal tip, Cerebellar h...	OMIM:614083
Codas Syndrome	Depressed nasal bridge, Hydroureter, Anteverted nares, Midline defect of the nose, Short nose	ORPHA:1458
Spinocerebellar Ataxia-Dysmorphism Syndrome	Anteverted nares, Dolichocephaly, Aplasia/Hypoplasia of the cerebellum, Spina bifida occulta, Sho...	ORPHA:1185
Intellectual Developmental Disorder, X-Linked 112	Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Pyelonephritis, Ve...	OMIM:301111
Lateral Meningocele Syndrome	Cryptorchidism, Chiari type I malformation, Thickened calvaria, Neurogenic bladder, Hydrocephalus...	OMIM:130720
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormality of iron homeostasis, Increased circulating ferritin concentration, Decreased serum te...	ORPHA:465508
Cole-Carpenter Syndrome 1	Coronal craniosynostosis, Orbital craniosynostosis, Hydrocephalus, Communicating hydrocephalus, F...	OMIM:112240
Donnai-Barrow Syndrome	Depressed nasal bridge, Broad nasal tip, Agenesis of corpus callosum, Proteinuria, Partial agenes...	OMIM:222448
X-Linked Intellectual Disability, Snyder Type	Abnormality of the Leydig cells, Bulbous nose, Anteverted nares, Prominent nasal bridge, Cryptorc...	ORPHA:3063
Joubert Syndrome 25	Cerebellar hypoplasia, Molar tooth sign on MRI	OMIM:616781
Hallermann-Streiff Syndrome	Underdeveloped nasal alae, Thin calvarium, Scaphocephaly, Narrow nose, Prominent nasal bridge, Cr...	OMIM:234100
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Irregular menstruation, Depressed nasal bridge, Hydrocephalus, Urinary incontinence, Frontal boss...	OMIM:616482
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Ventriculomegaly, Hypoplasia of the brainstem, Cerebellar dysplasia, Encephalocele, Agenesis of c...	OMIM:613150
Holoprosencephaly	Abnormality of the spleen, Cryptorchidism, Encephalocele, Holoprosencephaly, Flat occiput, Choana...	ORPHA:2162
Hoxha-Aliu Syndrome	Hydronephrosis, Brachycephaly, Vesicoureteral reflux, Wide nasal bridge	OMIM:620662
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Renal cyst, Proximal tubulopathy, Hyperinsulinemic hypoglycemia	OMIM:602579
Lelis Syndrome	Yellow nails, Sparse lateral eyebrow, Nail dystrophy, Abnormal toenail morphology, Sparse hair, A...	ORPHA:140936
Larsen-Like Syndrome	Brachycephaly, Frontal bossing, Absent nasal bridge	OMIM:608545
Cooper-Jabs Syndrome	Brachycephaly, Anteverted nares, Frontal bossing	ORPHA:1488
Uruguay Faciocardiomusculoskeletal Syndrome	Brachyturricephaly, Prominent nose, Elevated circulating creatine kinase concentration, Increased...	OMIM:300280
Achondrogenesis Type 1B	Anteverted nares, Frontal bossing, Short nose	ORPHA:93298
Nephronophthisis 1	Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal...	OMIM:256100
Hypoplasminogenemia	Abnormality of the ovary, Nephrolithiasis, Decreased level of plasminogen, Abnormal fallopian tub...	ORPHA:722
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Depressed nasal bridge, Anteverted nares, Cryptorchidism, Agenesis of corpus callosum, Cerebellar...	OMIM:217980
Bcard Syndrome	Ventriculomegaly, Anteverted nares, Thrombocytopenia, Short nose	OMIM:612394
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Wide nasal bridge, Agenesis of corpus callosum, Partial agenesis of the corpus callosum, Frontal ...	OMIM:620250
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Ventriculomegaly, Abnormal renal collecting system morphology, Cerebellar atrophy, Hydroureter, U...	ORPHA:280633
Holoprosencephaly-Postaxial Polydactyly Syndrome	Abnormal localization of kidney, Cryptorchidism, Encephalocele, Renal hypoplasia/aplasia, Cerebel...	ORPHA:2166
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Ventriculomegaly, Plagiocephaly, Cerebellar atrophy, Splenomegaly, Brachycephaly, Thrombocytopenia	OMIM:301072
Neurofaciodigitorenal Syndrome	Unilateral renal agenesis, Plagiocephaly, Prominent nasal bridge, Cryptorchidism, Brachycephaly	ORPHA:2673
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Choanal atresia, Depressed nasal ridge, Brachyturricephaly, Ethmoidal encephalocele, Frontal bossing	OMIM:607597
Intellectual Developmental Disorder, Autosomal Recessive 5	Sparse hair, Thick eyebrow, Synophrys	OMIM:611091
Microcephaly-Capillary Malformation Syndrome	Extra-axial cerebrospinal fluid accumulation, Vesicoureteral reflux, Short nose, Wide nose	OMIM:614261
Sporadic Fetal Brain Disruption Sequence	Abnormality of the adrenal glands, Plagiocephaly, Aplasia/Hypoplasia of the thymus, Prominent occ...	ORPHA:1665
Amoebiasis Due To Free-Living Amoebae	Abnormal midbrain morphology, Increased red blood cell count, Abnormal medulla oblongata morpholo...	ORPHA:68
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Renal hypoplasia, Sparse hair, Fine hair	OMIM:616817
Ophthalmomandibulomelic Dysplasia	Lateral humeral condyle aplasia, Radial bowing, Ulnar deviated club hands, Fibular hypoplasia, Co...	OMIM:164900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Ventriculomegaly, Hypoplasia of the brainstem, Encephalocele, Cerebellar hypoplasia, Hydrocephalu...	OMIM:614643
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Wide nasal bridge, Unilateral renal agenesis, Supernumerary nipple, Decreased response to growth ...	OMIM:213980
Bardet-Biedl Syndrome 12	Hydroureter, Hydrometrocolpos, Hypogonadism, Hydronephrosis, Vaginal atresia, Cystic renal dysplasia	OMIM:615989
Gracile Bone Dysplasia	Hypocalcemia, Hydrocephalus, Micropenis, Asplenia, Hypoplastic spleen	OMIM:602361
Achondrogenesis Type 1A	Anteverted nares, Frontal bossing, Short nose	ORPHA:93299
Pearson Syndrome	Pancytopenia, Hypophosphatemia, Neutropenia, Hypoparathyroidism, Hypoplastic spleen, Decreased re...	ORPHA:699
Cranioectodermal Dysplasia	Abnormal fingernail morphology, Sparse hair, Abnormal toenail morphology	ORPHA:1515
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Plagiocephaly, Trigonocephaly, Vesicoureteral reflux, Decreased calvarial ossification, Hydroneph...	OMIM:618265
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Aminoaciduria, Hypoplastic nipples, Sparse hair, Small nail	OMIM:273400
White-Sutton Syndrome	Depressed nasal bridge, Broad nasal tip, Cerebellar atrophy, Hypoplasia of the pons, Brachycephal...	ORPHA:468678
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Wide nasal bridge, Frontal bossing, Prominent nose, Brachycephaly, Biparietal narrowing	ORPHA:1292
Cutis Laxa, Autosomal Recessive, Type Iia	Anteverted nares, Frontal bossing, Dandy-Walker malformation, Short nose	OMIM:219200
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Alopecia, Sparse body hair, Absent eyelashes, Absent eyebrow, Sparse scalp hair	ORPHA:69735
Houge-Janssens Syndrome 1	Ventriculomegaly, Hydrocephalus	OMIM:616355
Camurati-Engelmann Disease	Optic atrophy, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Craniofa...	ORPHA:1328
Cartilage-Hair Hypoplasia	Wide nasal bridge, Depressed nasal ridge, Depressed nasal bridge, Spinal dysraphism, Anteverted n...	ORPHA:175
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Precocious puberty, Anteverted nares, Short nose	OMIM:619356
Bartsocas-Papas Syndrome	Underdeveloped nasal alae, Renal hypoplasia/aplasia, Ambiguous genitalia, Hypoplastic male extern...	ORPHA:1234
Peroxisome Biogenesis Disorder 4A (Zellweger)	Increased circulating very long-chain fatty acid concentration, Renal cyst, Depressed nasal bridge	OMIM:614862
Duplication Of The Pituitary Gland	Abnormal midbrain morphology, Brachyturricephaly, Encephalocele, Agenesis of corpus callosum, Abn...	ORPHA:314621
Axial Osteomalacia	Renal cyst, Elevated circulating creatine kinase concentration	OMIM:109130
Glucagonoma	Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr...	ORPHA:97280
Linear Nevus Sebaceus Syndrome	Ventriculomegaly, Plagiocephaly, Frontal bossing, Prominent occiput, Aplasia/Hypoplasia of the ce...	ORPHA:2612
Holoprosencephaly-Craniosynostosis Syndrome	Craniosynostosis, Brachycephaly, Holoprosencephaly, Plagiocephaly	ORPHA:2163
Joubert Syndrome 40	Depressed nasal bridge, Molar tooth sign on MRI	OMIM:619582
Cole-Carpenter Syndrome 2	Lambdoidal craniosynostosis, Coronal craniosynostosis, Turricephaly, Hydrocephalus, Frontal bossing	OMIM:616294
Congenital Syphilis	Extramedullary hematopoiesis, Hepatosplenomegaly, Hydrocephalus, Thrombocytopenia, Anemia, Nephro...	ORPHA:499009
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Depressed nasal bridge, Brachycephaly, Hydrocephalus, Craniosynostosis, Frontal bossing	OMIM:245600
Holoprosencephaly 9	Anterior pituitary agenesis, Choanal atresia, Broad nasal tip, Depressed nasal bridge, Single nar...	OMIM:610829
Microphthalmia, Syndromic 6	Lambdoidal craniosynostosis, Small scrotum, Ventriculomegaly, Inferior cerebellar vermis hypoplas...	OMIM:607932
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Ventriculomegaly, Short columella, Cryptorchidism, Hydronephrosis, Brachycephaly, Nephrotic syndr...	OMIM:601776
Fraser Syndrome 3	Small scrotum, Hypoplasia of the bladder, Bilateral renal agenesis, Ureteral agenesis, Hydrocepha...	OMIM:617667
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Oxoglutaric Aciduria	Abnormal urine alpha-ketoglutarate concentration, Hydrocephalus	ORPHA:31
9P13 Microdeletion Syndrome	Precocious puberty, Wide nasal bridge, External genital hypoplasia, Anteverted nares, Brachycephaly	ORPHA:324313
Leukodystrophy, Hypomyelinating, 10	Bulbous nose, Anteverted nares, Short nose, Hypoplasia of the brainstem	OMIM:616420
Acrofacial Dysostosis, Palagonia Type	Sparse lateral eyebrow, Thin eyebrow, Low anterior hairline, Sparse eyelashes, Pili torti, Sparse...	ORPHA:1787
Joubert Syndrome	Cerebellar vermis hypoplasia, Anteverted nares, Prominent nasal bridge, Encephalocele, Hydrocepha...	ORPHA:475
Joubert Syndrome 21	Occipital encephalocele, Hyperechogenic kidneys, Hypoplasia of the brainstem, Splenomegaly, Encep...	OMIM:615636
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Broad nasal tip, Renal agenesis, Frontal bossing, Bilateral cryptor...	ORPHA:2754
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Anemia of inadequate production, Elliptocytosis	OMIM:166910
Tuberous Sclerosis 1	Precocious puberty, Renal angiomyolipoma, Renal cyst, Hypothyroidism, Subependymal nodules, Renal...	OMIM:191100
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Unilateral renal agenesis, Ventriculomegaly, Broad nasal tip, Dilatation of the renal pelvis, Und...	ORPHA:268261
Shprintzen-Goldberg Craniosynostosis Syndrome	Brachyturricephaly, Anteverted nares, Cryptorchidism, Chiari type I malformation, Dolichocephaly,...	OMIM:182212
Trisomy 12P	Wide nasal bridge, Abnormality of the urinary system, Short nose, Turricephaly	ORPHA:1699
Chondrodysplasia With Joint Dislocations, Gpapp Type	Wide nasal bridge, Coronal craniosynostosis, Short nose	OMIM:614078
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Nephropathy, Homocystinuria, Acute kidney injury, Cystathioninemia, Methylmalonic aciduria, Cysta...	OMIM:277400
Cardiofaciocutaneous Syndrome 4	Alopecia of scalp, Sparse eyelashes, Absent eyebrow, Curly hair, Sparse hair	OMIM:615280
Halperin-Birk Syndrome	Ventriculomegaly, Colpocephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum	OMIM:618651
Osteopetrosis, Autosomal Recessive 5	Ventriculomegaly, Extramedullary hematopoiesis, Cranial hyperostosis, Hepatosplenomegaly, Pancyto...	OMIM:259720
Joubert Syndrome 28	Wide nasal bridge, Molar tooth sign on MRI	OMIM:617121
Nephronophthisis 4	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia...	OMIM:606966
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Wide nasal bridge, Bulbous nose, Short nose	OMIM:620292
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Unilateral cryptorchidism, Broad nasal tip, Cranial asymmetry	ORPHA:137634
Phosphoribosylpyrophosphate Synthetase Superactivity	Depressed nasal bridge, Urolithiasis, Renal insufficiency, Cryptorchidism, Hyperuricemia, Hyperur...	OMIM:300661
Rabin-Pappas Syndrome	Wide nasal bridge, Broad nasal tip, Hypoplasia of the pons, Cerebellar hypoplasia, Chiari type I ...	OMIM:620155
Fibrochondrogenesis 1	Hypoplastic ischia, Hypoplastic scapulae, Small hand, Rhizomelia, Broad long bones, Fibular hypop...	OMIM:228520
Histiocytoid Cardiomyopathy	Cerebellar malformation, Agenesis of corpus callosum, Polycystic ovaries, Renal cyst, Hydrocephalus	ORPHA:137675
Chylomicron Retention Disease	Hypocholesterolemia, Acanthocytosis	ORPHA:71
Hajdu-Cheney Syndrome	Wide nasal bridge, Chiari malformation, Anteverted nares, Prominent occiput, Splenomegaly, Delaye...	ORPHA:955
Dihydropyrimidinase Deficiency	Elevated CSF dihydrouracil concentration, Plagiocephaly, Elevated circulating thymine concentrati...	OMIM:222748
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Cryptorchidism, Fetal megacystis	ORPHA:73246
Pentasomy X	Wide nasal bridge, Plagiocephaly, Delayed puberty	ORPHA:11
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydronephrosis, Urethral atresia, Hydrocephalus, Enlarged kidney	OMIM:314390
Trisomy 18	Choanal atresia, Chiari malformation, Abnormal morphology of female internal genitalia, Prominent...	ORPHA:3380
Ciliary Dyskinesia, Primary, 1	Anosmia, Nasal polyposis, Chronic rhinitis, Asplenia, Communicating hydrocephalus, Male infertility	OMIM:244400
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Trigonocephaly, External genital hypoplasia, Elevated circulating creatine kinase concentration, ...	ORPHA:329178
Whipple Disease	Splenomegaly, Hyponatremia, Hypothyroidism, Hydrocephalus, Anemia, Erectile dysfunction	ORPHA:3452
Melanocytic Nevus Syndrome, Congenital	Narrow nasal ridge, Anteverted nares, Broad nasal tip, Short nose	OMIM:137550
Smith-Lemli-Opitz Syndrome	Wide nasal bridge, Abnormal localization of kidney, Ventriculomegaly, Clitoral hypertrophy, Multi...	ORPHA:818
Basal Cell Nevus Syndrome 2	Frontal bossing, Hydrocephalus	OMIM:620343
Monosomy 18Q	Secondary growth hormone deficiency, Depressed nasal bridge, Bilateral cryptorchidism, Bulbous no...	ORPHA:1600
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ...	OMIM:113310
Cardiofaciocutaneous Syndrome 1	Depressed nasal bridge, Bulbous nose, Anteverted nares, Splenomegaly, Hydronephrosis, Hydrocephal...	OMIM:115150
Marshall-Smith Syndrome	Choanal atresia, Ventriculomegaly, Recurrent upper respiratory tract infections, Depressed nasal ...	OMIM:602535
Pterygium Colli, Isolated	Short nose	OMIM:177990
White-Sutton Syndrome	Depressed nasal bridge, Broad nasal tip, Depressed nasal tip, Brachycephaly, Duplicated collectin...	OMIM:616364
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Plagiocephaly, Renal agenesis, Horseshoe kidney, Abnormality of the...	ORPHA:2538
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Decreased testicular size, External genital hypoplasia, Prominent nasal bridge, Wide nose, Crypto...	ORPHA:251028
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Small pituitary gland, Ventriculomegaly, Hydrocephalus, Nasofrontal encephalocele	OMIM:614195
Developmental And Epileptic Encephalopathy 84	Ventriculomegaly, Plagiocephaly	OMIM:618792
Saethre-Chotzen Syndrome	Depressed nasal bridge, Plagiocephaly, Prominent nasal bridge, Cryptorchidism, Brachycephaly, Con...	ORPHA:794
Distal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease...	ORPHA:18
Cenani-Lenz Syndrome	Crossed fused renal ectopia, Renal hypoplasia/aplasia, Hypothyroidism, Convex nasal ridge, Fronta...	ORPHA:3258
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Hyperparathyroidism-Jaw Tumor Syndrome	Nephrocalcinosis, Elevated circulating parathyroid hormone level, Renal hamartoma, Pancreatic ade...	ORPHA:99880
Odontochondrodysplasia	Depressed nasal bridge, Frontal bossing, Short nose	ORPHA:166272
Simpson-Golabi-Behmel Syndrome	Wide nasal bridge, Multicystic kidney dysplasia, Hydroureter, Polysplenia, Supernumerary nipple, ...	ORPHA:373
Desbuquois Syndrome	Abnormal eyelash morphology, Sparse hair	ORPHA:1425
Sclerosteosis 1	Irregular menstruation, Optic atrophy, Abnormal pelvic girdle bone morphology, Deviation of finge...	OMIM:269500
Lamellar Ichthyosis	Sparse hair, Renal insufficiency, Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow	ORPHA:313
Chromosome 19Q13.11 Deletion Syndrome, Distal	Wide nasal bridge, Bifid scrotum, Underdeveloped nasal alae, Anteverted nares, Cryptorchidism, Hy...	OMIM:613026
Pantothenate Kinase-Associated Neurodegeneration	Acanthocytosis, Abetalipoproteinemia, Iron accumulation in substantia nigra	ORPHA:157850
Genitopatellar Syndrome	Wide nasal bridge, Small scrotum, Clitoral hypertrophy, Multicystic kidney dysplasia, Prominent n...	OMIM:606170
Complete Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,...	ORPHA:99429
Wiedemann-Rautenstrauch Syndrome	Depressed nasal bridge, Long penis, Chiari malformation, Frontal bossing, Narrow nose, Anteverted...	OMIM:264090
Osteootohepatoenteric Syndrome	Increased serum bile acid concentration, Proteinuria, Grade II vesicoureteral reflux, Hypokalemia...	OMIM:619377
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Arthrogryposis, Distal, Type 2A	Wide nasal bridge, Cerebellar atrophy, Underdeveloped nasal alae, Hypoplasia of the brainstem, Cr...	OMIM:193700
Dextrocardia	Pancreatic hypoplasia, Abnormality of the spleen, Abnormality of the ureter, Abnormal reproductiv...	ORPHA:1666
Xp22.13P22.2 Duplication Syndrome	High anterior hairline, Sparse hair, Polycystic ovaries	ORPHA:284180
Tuberous Sclerosis 2	Precocious puberty, Renal angiomyolipoma, Renal cyst, Hypothyroidism, Subependymal nodules, Renal...	OMIM:613254
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Congenital Myopathy 13	Brachycephaly, Ventriculomegaly, Cryptorchidism	OMIM:255995
Mucopolysaccharidosis, Type Ii	Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Scap...	OMIM:309900
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy, Anteverted nares	OMIM:601163
Thoracic Dysplasia-Hydrocephalus Syndrome	Depressed nasal ridge, Communicating hydrocephalus	ORPHA:1861
Oligodontia-Colorectal Cancer Syndrome	Short eyelashes, Sparse body hair, Sparse axillary hair, Absent eyebrow, Sparse scalp hair	OMIM:608615
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Depressed nasal bridge, Anteverted nares, Frontal bossing, Short nose, Wide nose	OMIM:613320
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Wide nasal bridge, Congenital hypothyroidism, Nephrolithiasis, Brachycephaly, Abnormality of the ...	ORPHA:521445
Thakker-Donnai Syndrome	Bulbous nose, Anteverted nares, Agenesis of corpus callosum, Hydronephrosis, Communicating hydroc...	ORPHA:1780
Parathyroid Carcinoma	Nephrocalcinosis, Elevated circulating parathyroid hormone level, Parathyroid carcinoma, Renal ha...	ORPHA:143
Von Hippel-Lindau Syndrome	Polycythemia, Pancreatic cysts, Pheochromocytoma, Paraganglioma, Multiple renal cysts, Renal cell...	OMIM:193300
Short-Rib Thoracic Dysplasia 12	Renal hypoplasia, Splenomegaly, Hypoplastic nipples, Ambiguous genitalia, Hydrocephalus, Holopros...	OMIM:269860
Oeis Complex	Duplicated collecting system, Chiari malformation, Hydroureter, Renal agenesis, Myelomeningocele,...	OMIM:258040
Acrocephalopolydactylous Dysplasia	Polysplenia, Oxycephaly, Short nose, Craniosynostosis, Enlarged kidney, Cystic renal dysplasia	OMIM:200995
Meningioma	Increased circulating prolactin concentration, Neoplasm of the posterior pituitary, Urinary incon...	ORPHA:2495
Distal Deletion 9P	Wide nasal bridge, Trigonocephaly, Hypoplastic labia majora, Hypospadias, Short nose	ORPHA:1642
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Type I diabetes mellitus, Polycystic ovaries, Premature thelarche, Brachycephaly, Nodular goiter	ORPHA:371428
16P12.1P12.3 Triplication Syndrome	Decreased response to growth hormone stimulation test, Bulbous nose, Short nose, Bilateral crypto...	ORPHA:485405
Bor Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ...	ORPHA:107
Fontaine Progeroid Syndrome	Cerebellar vermis hypoplasia, Small scrotum, Absent nipple, Coronal craniosynostosis, Depressed n...	OMIM:612289
Osteopathia Striata With Cranial Sclerosis	Wide nasal bridge, Multicystic kidney dysplasia, Thickened calvaria, Hydrocephalus, Spina bifida ...	OMIM:300373
Robinow Syndrome, Autosomal Dominant 2	Depressed nasal bridge, Anteverted nares, Cryptorchidism, Thickened calvaria, Micropenis, Frontal...	OMIM:616331
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones	Sparse axillary hair, Sparse facial hair	OMIM:608154
Acro-Renal-Mandibular Syndrome	Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Rudimentary to absent ...	ORPHA:958
Orofaciodigital Syndrome Type 1	Wide nasal bridge, Choanal atresia, Multicystic kidney dysplasia, Underdeveloped nasal alae, Rena...	ORPHA:2750
Zttk Syndrome	Wide nasal bridge, Unilateral renal agenesis, Ventriculomegaly, Depressed nasal bridge, Horseshoe...	OMIM:617140
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Choanal atresia, Cranial hyperostosis, Facial hyperostosis, Hypogonadi...	ORPHA:2658
Alg12-Cdg	Hypoalbuminemia, Ventriculomegaly, Posterior plagiocephaly, Hypocholesterolemia, Prominent nasal ...	ORPHA:79324
Dubowitz Syndrome	Depressed nasal bridge, Abnormal female external genitalia morphology, Cryptorchidism, Hypoparath...	ORPHA:235
Olmsted Syndrome 1	Alopecia universalis, Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:614594
Verloove Vanhorick-Brubakk Syndrome	Abnormal pelvic girdle bone morphology, Finger syndactyly, Micrognathia, Abnormal femur morpholog...	ORPHA:3429
Choreoacanthocytosis	Lateral ventricle dilatation, Acanthocytosis, Splenomegaly, Elevated circulating creatine kinase ...	ORPHA:2388
Cartilage-Hair Hypoplasia	Lymphopenia, Macrocytic anemia, Brachycephaly, Impaired lymphocyte transformation with phytohemag...	OMIM:250250
Pituitary Deficiency Due To Rathke Cleft Cysts	Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas...	ORPHA:91350
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Small scrotum, Depressed nasal bridge, Breast hypoplasia, Cryptorchidism, Brachycephaly, Shawl sc...	OMIM:601353
Campomelic Dysplasia	Small abnormally formed scapulae, 11 pairs of ribs, Micrognathia, Femoral bowing, Tibial bowing, ...	ORPHA:140
Treacher-Collins Syndrome	Wide nasal bridge, Small scrotum, Choanal atresia, Frontal bossing, Cryptorchidism, Encephalocele...	ORPHA:861
Craniosynostosis With Fibular Aplasia	Craniosynostosis, Fibular aplasia	OMIM:218550
Richieri-Costa/Guion-Almeida Syndrome	Spina bifida occulta, Brachycephaly	OMIM:268850
Knobloch Syndrome	Depressed nasal bridge, Occipital encephalocele, Bifid ureter, Calvarial skull defect, Vesicouret...	ORPHA:1571
Carey-Fineman-Ziter Syndrome 1	Depressed nasal bridge, Ventriculomegaly, Broad nasal tip, Plagiocephaly, Hypoplasia of the brain...	OMIM:254940
Pentalogy Of Cantrell	Renal agenesis, Polysplenia, Absent gallbladder, Encephalocele, Anencephaly, Hydrocephalus, Hypos...	ORPHA:1335
Ichthyosis, Congenital, Autosomal Recessive 5	Acanthocytosis	OMIM:604777
Toriello-Carey Syndrome	Ventriculomegaly, Cryptorchidism, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebell...	ORPHA:3338
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypopituitarism, Increased CSF lactate, Leukocytosis, Hypothyroidism, Hypercholesterolemia, Hydro...	ORPHA:90065
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Brachycephaly, Supernumerary nipple	OMIM:616083
Cleidocranial Dysplasia	Hypoplastic scapulae, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Genu...	ORPHA:1452
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Broad nasal tip, Plagiocephaly, Prominent nasal bridge, Cryptorchidism, Hydronephrosis, Craniosyn...	ORPHA:457193
Noonan Syndrome 6	Low posterior hairline, Long eyebrows, Sparse hair, Curly hair	OMIM:613224
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormality of the kidney, Ab...	ORPHA:1772
Atelosteogenesis, Type I	Radial bowing, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Aplasia/Hypoplasia of...	OMIM:108720
Fibrochondrogenesis 2	Anteverted nares, Frontal bossing, Short nose	OMIM:614524
Peroxisome Biogenesis Disorder 1B	Wide nasal bridge, Renal cyst, Hyperoxaluria, Convex nasal ridge	OMIM:601539
Japanese Encephalitis	Abnormal midbrain morphology, Increased CSF protein concentration, Abnormal thalamus morphology, ...	ORPHA:79139
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:618961
Foxg1 Syndrome Due To 14Q12 Microdeletion	Depressed nasal bridge, Bulbous nose, Short nose, Agenesis of corpus callosum	ORPHA:261144
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Wide nasal bridge, Depressed nasal bridge, Plagiocephaly, Ureteropelvic junction obstruction, Hyd...	OMIM:280000
Omodysplasia 2	Broad femoral neck, Short 1st metacarpal, Rhizomelic arm shortening, Micrognathia, Short humerus,...	OMIM:164745
Trichothiodystrophy 1, Photosensitive	Small nail, Fine hair, Trichorrhexis nodosa, Tiger tail banding, Nail dystrophy, Trichoschisis, P...	OMIM:601675
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Ureterocele, Renal insufficiency, Cryptorchidism, Renal hypoplasia/...	ORPHA:261265
Tetrasomy 12P	Anteverted nares, Frontal bossing, Short nose	ORPHA:884
Coffin-Siris Syndrome 1	Choanal atresia, Clitoral hypertrophy, Plagiocephaly, Renal hypoplasia, Hydroureter, Broad nasal ...	OMIM:135900
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Abnormality of the ureter, Anteverted nares, Agenesis of corpus callos...	ORPHA:3339
Chilton-Okur-Chung Neurodevelopmental Syndrome	Posterior plagiocephaly, Cryptorchidism, Agenesis of corpus callosum, Mild fetal ventriculomegaly...	OMIM:619841
Elliptocytosis 1	Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Facial Paresis, Hereditary Congenital, 3	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:614744
Hurler Syndrome	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Splenomegaly, Mucopolysacchariduria,...	ORPHA:93473
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hyperechogenic pancreas, Brachycephaly, Hypothyroidism, Cerebellar hemisphere hypoplasia, Delayed...	ORPHA:456312
Menkes Disease	Alopecia, Sparse hair, Brittle hair	OMIM:309400
Koolen-De Vries Syndrome Due To A Point Mutation	Pear-shaped nose, Cryptorchidism, Agenesis of corpus callosum, Hypospadias, Precocious puberty, D...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Pear-shaped nose, Cryptorchidism, Agenesis of corpus callosum, Hypospadias, Precocious puberty, D...	ORPHA:363958
8P23.1 Microdeletion Syndrome	Wide nasal bridge, Hypospadias, Prominent nasal bridge, Cryptorchidism, Biparietal narrowing, Sho...	ORPHA:251071
Olmsted Syndrome 2	Alopecia universalis, Sparse hair, Woolly hair	OMIM:619208
Tibial Hemimelia	Absent tibia	OMIM:275220
Bathing Suit Ichthyosis	Alopecia, Sparse hair, Nail dystrophy	ORPHA:100976
Mucopolysaccharidosis Type 1	Depressed nasal bridge, Thick nasal alae, Splenomegaly, Mucopolysacchariduria, Abnormal nasal mor...	ORPHA:579
Severe Generalized Junctional Epidermolysis Bullosa	Multicystic kidney dysplasia, Alopecia, Hydroureter, Ureterocele, Urinary retention, Recurrent ur...	ORPHA:79404
Faciodigitogenital Syndrome, Autosomal Recessive	Anteverted nares, Prominent nasal bridge, Cryptorchidism, Brachycephaly, Shawl scrotum, Pollakisu...	OMIM:227330
Campomelia, Cumming Type	Dolichocephaly, Multicystic kidney dysplasia, Pancreatic cysts, Multiple renal cysts	ORPHA:1318
Congenital Disorder Of Glycosylation, Type Iia	Prominent nasal bridge, Cerebellar hypoplasia, Brachycephaly, Convex nasal ridge, Low hanging col...	OMIM:212066
19Q13.11 Microdeletion Syndrome	Sparse lateral eyebrow, Fine hair, Supernumerary nipple, Sparse or absent eyelashes, Nail dysplas...	ORPHA:217346
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydronephrosis, Ambiguous genitalia, Hydrocephalus, Spina bifida	ORPHA:2839
Oculodentodigital Dysplasia, Autosomal Recessive	Underdeveloped nasal alae, Narrow nose, Brachycephaly, Long nose, Frontal bossing	OMIM:257850
Ifap Syndrome 2	Atrichia, Sparse hair, Nail dystrophy	OMIM:619016
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Bulbous nose, Anteverted nares, Prominent nasal bridge, Cryptorchidism, Thickened calvaria, Brach...	OMIM:309583
Lessel-Kreienkamp Syndrome	Wide nasal bridge, Scaphocephaly, Plagiocephaly, Frontal bossing	OMIM:619149
Distal Duplication 5Q	Prominent nasal bridge, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Craniosynostosis, ...	ORPHA:96097
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Ventriculomegaly, Chiari malformation, Annular pancreas, Dilatation of the renal pelvis, Hydroure...	OMIM:265380
Kabuki Syndrome	Precocious puberty, Abnormal localization of kidney, Ventriculomegaly, Crossed fused renal ectopi...	ORPHA:2322
Momo Syndrome	Wide nasal bridge, Brachycephaly, Frontal bossing	OMIM:157980
Developmental And Epileptic Encephalopathy 75	Wide nasal bridge, Anteverted nares, Short nose	OMIM:618437
Congenital Heart Defects And Skeletal Malformations Syndrome	Frontal bossing, Narrow nose, Cryptorchidism, Long nose, Hypospadias, Short nose	OMIM:617602
Marfanoid-Progeroid-Lipodystrophy Syndrome	Narrow nose, Scaphocephaly, Prominent nasal bridge, Narrow nasal ridge, Hydrocephalus, Craniosyno...	OMIM:616914
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Parathyroid agenesis, Congenital hypoparathyroid...	ORPHA:2239
Opitz-Kaveggia Syndrome	Choanal atresia, Plagiocephaly, Frontal bossing, Prominent nose, Cryptorchidism, Hydrocephalus, P...	OMIM:305450
Shukla-Vernon Syndrome	Sparse hair	OMIM:301029
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Sparse hair, Absent nipple, Brittle hair, Absent hair	OMIM:614940
Ciliary Dyskinesia, Primary, 9	Male infertility	OMIM:612444
Hawkinsinuria	Sparse hair, Hawkinsinuria, 4-Hydroxyphenylpyruvic aciduria, 4-hydroxyphenylacetic aciduria	OMIM:140350
Arachnoid Cyst	Enlarged fossa interpeduncularis, Chiari malformation, Urinary bladder sphincter dysfunction, Abn...	ORPHA:2356
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Depressed nasal bridge, Broad nasal tip, Decreased response to growth...	OMIM:618223
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hepatosplenomegaly, Cryptorchidism, Thyroid hypoplasia, Short nose, Decreased response to growth ...	OMIM:619503
Cerebrooculofacioskeletal Syndrome 2	Micropenis, Sparse hair	OMIM:610756
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus	OMIM:613330
Intellectual Developmental Disorder, Autosomal Dominant 66	Brachycephaly, Plagiocephaly	OMIM:619910
Coffin-Siris Syndrome 6	Depressed nasal bridge, Broad nasal tip, Frontal bossing, Plagiocephaly	OMIM:617808
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Oculocerebrofacial Syndrome, Kaufman Type	Brachycephaly, Clitoral hypertrophy, Flat occiput	ORPHA:2707
Saul-Wilson Syndrome	Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of the odontoid pr...	OMIM:618150
Deeah Syndrome	Extra-axial cerebrospinal fluid accumulation, Decreased response to growth hormone stimulation te...	OMIM:619004
Trisomy 9P	Brachycephaly, Abnormal nasal morphology	ORPHA:236
Mycophenolate Mofetil Embryopathy	Bifid nose, Ectopic kidney, Hydrocephalus, Agenesis of corpus callosum	ORPHA:268249
Specc1L-Related Hypertelorism Syndrome	Wide nasal bridge, Prominent nasal bridge, Female pseudohermaphroditism, Cryptorchidism, Brachyce...	ORPHA:1519
Chromosome 3Q29 Duplication Syndrome	Wide nasal bridge, Bulbous nose, Short nose	OMIM:611936
Dysostosis, Stanescu Type	Brachycephaly, Narrow nasal bridge, Abnormal nasal morphology, Convex nasal ridge	ORPHA:1798
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Cerebellar atrophy, Short nose	ORPHA:544503
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Wide nasal bridge, Cerebellar vermis hypoplasia, Posterior plagiocephaly, Small scrotum, Broad na...	OMIM:620330
Cranioectodermal Dysplasia 2	Wide nasal bridge, Depressed nasal bridge, Plagiocephaly, Polysplenia, Hyperbilirubinemia, Renal ...	OMIM:613610
Auriculocondylar Syndrome 2B	Sparse hair, Long penis, Synophrys	OMIM:620458
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Broad nasal tip, Renal agenesis, Agenesis of corpus callosum, Hypot...	OMIM:277170
Bardet-Biedl Syndrome	Chronic kidney disease, Hydrometrocolpos, Type II diabetes mellitus, Cryptorchidism, Polycystic o...	ORPHA:110
Ciliary Dyskinesia, Primary, 18	Immotile sperm, Male infertility	OMIM:614874
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Anteverted nares, Short nose	OMIM:619854
Pallister-Hall Syndrome	Small scrotum, Hydrometrocolpos, Hypopituitarism, Central adrenal insufficiency, Cryptorchidism, ...	ORPHA:672
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Wide nasal bridge, Broad nasal tip, Dandy-Walker malformation, Short nose	OMIM:614207
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Wide nasal bridge, Renal cyst	OMIM:615560
Alveolar Echinococcosis	Hepatic cysts, Abnormal bladder morphology, Renal cyst, Eosinophilia, Abnormal spleen morphology,...	ORPHA:284
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatic cysts, Enlarged kidney, Cystic renal dysplasia, Stillbirth	OMIM:615415
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism	Sparse hair, Polycystic ovaries	OMIM:268020
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Depressed nasal bridge, Reduced natural killer cell count, Decreased circulating IgA level, Antev...	OMIM:242860
Rhizomelic Dysplasia, Patterson-Lowry Type	Depressed nasal ridge, Short nose, Wide nose	ORPHA:2831
Lymphangioleiomyomatosis	Abnormal morphology of female internal genitalia, Abnormal urinary color, Hematuria, Renal angiom...	ORPHA:538
Penile Agenesis	Depressed nasal bridge, Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilat...	ORPHA:49
Osteogenesis Imperfecta, Type Xii	Depressed nasal bridge, Brachyturricephaly	OMIM:613849
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Female pseudohermaphroditi...	ORPHA:2973
Autism, Susceptibility To, X-Linked 2	Increased serum serotonin, Plagiocephaly	OMIM:300495
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Sparse hair, Hirsutism	OMIM:618087
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Noonan Syndrome 3	Hypoplastic nasal bridge, Juvenile myelomonocytic leukemia, Scaphocephaly, Anteverted nares, Cryp...	OMIM:609942
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Thin calvarium, Frontal bossing, Short nose	ORPHA:1129
Fetal Hydantoin Syndrome	Depressed nasal ridge, Cryptorchidism, Bifid scrotum, Short nose	ORPHA:1912
Coccidioidomycosis	Increased CSF protein concentration, Abnormality of the male genitalia, Hypoglycorrhachia, Abnorm...	ORPHA:228123
6Q Terminal Deletion Syndrome	Plagiocephaly, Phimosis, Cerebellar hypoplasia, Colpocephaly, Dolichocephaly, Hypospadias	ORPHA:75857
Pagod Syndrome	Multicystic kidney dysplasia, Abnormality of the uterus, Abnormal morphology of female internal g...	ORPHA:991
Trichohepatoneurodevelopmental Syndrome	Cholelithiasis, Plagiocephaly, Bulbous nose, Splenomegaly, Increased serum bile acid concentratio...	OMIM:618268
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Depressed nasal bridge, Ventriculomegaly, Bulbous nose, Brachycephaly, Wide nose	OMIM:610442
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Depressed nasal bridge, Underdeveloped nasal alae, Decreased response to growth hormone stimulati...	OMIM:616007
Tetrasomy 9P	Recurrent urinary tract infections, Horseshoe kidney, Bulbous nose, Absent gallbladder, Cryptorch...	ORPHA:3310
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Depressed nasal bridge, Plagiocephaly, Anteverted nares, Hydrocephalus, Renal neoplasm, Craniosyn...	ORPHA:536467
Thanatophoric Dysplasia, Type I	Frontal bossing, Hydrocephalus, Cloverleaf skull	OMIM:187600
Kbg Syndrome	Underdeveloped nasal alae, Anteverted nares, Prominent nasal bridge, Cryptorchidism, Brachycephal...	OMIM:148050
Johnson Neuroectodermal Syndrome	Absent eyelashes, Alopecia, Sparse hair, Absent eyebrow	ORPHA:2316
Robinow Syndrome	Webbed penis, Small scrotum, Multicystic kidney dysplasia, Flared nostrils, Broad nasal tip, Depr...	ORPHA:97360
Mitochondrial Complex I Deficiency, Nuclear Type 33	Sparse hair, Hypospadias	OMIM:618253
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cerebellar vermis hypoplasia, Ventriculomegaly, Hydrocephalus, Cerebellar cyst	OMIM:616538
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ketonuria, Methylmalonic aciduria, Elevated circulating palmitoleylcarnitine concentration, Renal...	ORPHA:79282
Poikiloderma With Neutropenia	Depressed nasal bridge, Underdeveloped nasal alae, Leukopenia, Splenomegaly, Recurrent sinusitis,...	OMIM:604173
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Sparse hair, Nail dystrophy	OMIM:616353
Goodpasture Syndrome	Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Protein...	OMIM:233450
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Precocious puberty, Wide nasal bridge, Broad nasal tip, Broad columella, Thick nasal alae, Bulbou...	OMIM:619950
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Broad nasal tip, Abnormal circulating apolipoprotein concentration, Anteverted nares, Cerebellar ...	ORPHA:357074
Iniencephaly	Spinal dysraphism, Renal agenesis, Myelomeningocele, Abnormal occipital bone morphology, Encephal...	ORPHA:63259
Acrofacial Dysostosis, Catania Type	Spina bifida occulta, Hypospadias, Cryptorchidism, Short nose	ORPHA:1786
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures	Plagiocephaly, Frontal bossing	OMIM:619264
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Hypoplasia of the brainstem, Encephalocele, Agenesis of corpus callosum, Cerebellar hypoplasia, H...	OMIM:253800
Mandibuloacral Dysplasia Progeroid Syndrome	Focal segmental glomerulosclerosis, Depressed nasal bridge, Underdeveloped nasal alae, Bulbous no...	OMIM:619127
Peho Syndrome	Cerebellar atrophy, Short nose	OMIM:260565
Fraser Syndrome 1	Wide nasal bridge, Depressed nasal bridge, Clitoral hypertrophy, Renal hypoplasia, Underdeveloped...	OMIM:219000
Ciliary Dyskinesia, Primary, 43	Recurrent upper respiratory tract infections, Noncommunicating hydrocephalus, Chronic rhinitis	OMIM:618699
Rhizomelic Chondrodysplasia Punctata	Alopecia, Sparse body hair	ORPHA:177
White-Kernohan Syndrome	Depressed nasal bridge, Hydroureter, Underdeveloped nasal alae, Horseshoe kidney, Anteverted nare...	OMIM:619426
Myotonic Dystrophy 1	Testicular atrophy, Cholelithiasis, Hypogonadism	OMIM:160900
Neuromuscular Oculoauditory Syndrome	Elevated circulating creatine kinase concentration, Reduced renal corticomedullary differentiatio...	OMIM:618733
Nablus Mask-Like Facial Syndrome	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Hypoplastic nipples,...	OMIM:608156
Craniosynostosis And Dental Anomalies	Lambdoidal craniosynostosis, Depressed nasal bridge, Coronal craniosynostosis, Chiari malformatio...	OMIM:614188
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Male infertility, Ami...	OMIM:219800
Simpson-Golabi-Behmel Syndrome, Type 1	Wide nasal bridge, Cerebellar vermis hypoplasia, Depressed nasal bridge, Duplication of renal pel...	OMIM:312870
Congenital Disorder Of Deglycosylation 1	Decreased CSF 5-hydroxyindolacetic acid concentration, Decreased CSF albumin concentration, Chond...	OMIM:615273
Joubert Syndrome 33	Splenomegaly, Molar tooth sign on MRI	OMIM:617767
Ciliary Dyskinesia, Primary, 14	Immotile sperm, Male infertility, Reduced sperm motility	OMIM:613807
Noonan Syndrome 13	Wide nasal bridge, Plagiocephaly, Anteverted nares, Cryptorchidism, Duplicated collecting system	OMIM:619087
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose	ORPHA:289266
Mesomelic Dysplasia, Nievergelt Type	Dolichocephaly, Brachycephaly	ORPHA:2633
Contractural Arachnodactyly, Congenital	Dolichocephaly, Brachycephaly, Frontal bossing, Scaphocephaly	OMIM:121050
Radio-Renal Syndrome	Depressed nasal bridge, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, C...	ORPHA:3015
Structural Heart Defects And Renal Anomalies Syndrome	Renal cyst, Partial agenesis of the corpus callosum, Elevated circulating creatinine concentratio...	OMIM:617478
Microlissencephaly-Micromelia Syndrome	Abnormal circulating calcium-phosphate regulating hormone concentration, Cerebellar hypoplasia, H...	ORPHA:50810
Miller-Dieker Lissencephaly Syndrome	Wide nasal bridge, Frontal bossing, Anteverted nares, Cryptorchidism, Pelvic kidney, Short nose	OMIM:247200
Fucosidosis	Mucopolysacchariduria, Brachycephaly, Hypothyroidism	ORPHA:349
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Wide nasal bridge, Nephrocalcinosis, Hypothyroidism, Neutropenia, Short nose	OMIM:618005
Chops Syndrome	Horseshoe kidney, Anteverted nares, Vesicoureteral reflux, Splenomegaly, Cryptorchidism, Short nose	OMIM:616368
Mucoepithelial Dysplasia, Hereditary	Alopecia, Coarse hair, Chronic monilial nail infection, Nail dystrophy, Hematuria, Nail dysplasia...	OMIM:158310
Prune1-Related Neurological Syndrome	Plagiocephaly, Cerebellar atrophy, Elevated circulating creatine kinase concentration	ORPHA:544469
Hallermann-Streiff Syndrome	Choanal atresia, Underdeveloped nasal alae, Cryptorchidism, Cerebellar hypoplasia, Brachycephaly,...	ORPHA:2108
Spondylocostal Dysostosis 4, Autosomal Recessive	Myelomeningocele, Chiari type II malformation, Neurogenic bladder, Hydrocephalus, Spina bifida oc...	OMIM:613686
Intellectual Developmental Disorder, X-Linked 98	Depressed nasal bridge, Central hypothyroidism, Underdeveloped nasal alae, Anteverted nares, Prom...	OMIM:300912
Osteoglophonic Dysplasia	Choanal atresia, Depressed nasal bridge, Frontal bossing, Nasal congestion, Anteverted nares, Cry...	OMIM:166250
Schimmelpenning-Feuerstein-Mims Syndrome	Precocious puberty, Horseshoe kidney, Hypophosphatemic rickets, Hyperphosphaturia, Cranial asymmetry	OMIM:163200
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Short nose, Frontal bossing	OMIM:256600
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Hypoplasia of penis, Sparse body hair	ORPHA:2234
Familial Adenomatous Polyposis 4	Renal cyst, Thyroid adenoma, Ovarian cyst, Uterine leiomyoma	OMIM:617100
Spondyloepimetaphyseal Dysplasia, Krakow Type	Allergic rhinitis, Chiari malformation, Hydrocephalus, Decreased circulating total IgM, Platybasi...	OMIM:618162
Odontoonychodermal Dysplasia	Sparse eyebrow, Dry hair, Short nail, Dystrophic toenail, Fine hair, Sparse body hair, Ridged nai...	OMIM:257980
Wilson Disease	Hypouricemia, Hyperbilirubinemia, Hypoparathyroidism, Decreased circulating ceruloplasmin concent...	OMIM:277900
Osteogenesis Imperfecta	Ventriculomegaly, Brain stem compression, Prominent occiput, Nephrolithiasis, Brachycephaly, Hype...	ORPHA:666
16P11.2P12.2 Microdeletion Syndrome	Bulbous nose, Anteverted nares, Absent nasal bridge, Long nose, Frontal bossing, Short nose	ORPHA:261211
Neurogenic Arthrogryposis Multiplex Congenita	Scaphocephaly, Plagiocephaly, Mildly elevated creatine kinase	ORPHA:1143
Faciocardiorenal Syndrome	Horseshoe kidney, Plagiocephaly, Underdeveloped nasal alae, Wide nasal bridge	ORPHA:1973
Incontinentia Pigmenti	Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Ridged...	OMIM:308300
Dyssegmental Dysplasia, Silverman-Handmaker Type	Wide nasal bridge, Encephalocele, Hydrocephalus, Cryptorchidism	ORPHA:1865
Stickler Syndrome Type 1	Short nose	ORPHA:90653
Nephronophthisis 11	Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal...	OMIM:613550
Congenital Disorder Of Glycosylation, Type Iie	Cerebellar atrophy, Splenomegaly, Elevated circulating creatine kinase concentration, Hydronephro...	OMIM:608779
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Plagiocephaly, Cerebellar atrophy	OMIM:617481
Plaa-Associated Neurodevelopmental Disorder	Cerebellar cortical atrophy, Ventriculomegaly, Short nose	ORPHA:521426
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Coronal craniosynostosis, Plagiocephaly, Parietal foramina, Frontal bossing, Brachycephaly, Hypos...	ORPHA:85199
Osteogenesis Imperfecta, Type Xx	Bulbous nose, Brachycephaly, Plagiocephaly	OMIM:618644
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Wide nasal bridge, Plagiocephaly, Enlarged naris, Anteverted nares, Prominent nasal bridge, Front...	ORPHA:371364
Spondylocarpotarsal Synostosis Syndrome	Broad nasal tip, Anteverted nares, Renal cyst, Platybasia, Frontal bossing, Short nose	OMIM:272460
Momo Syndrome	Wide nasal base, Brachycephaly, Frontal bossing	ORPHA:2563
Rodrigues Blindness	Sparse hair, Fine hair	OMIM:268320
Spondyloepiphyseal Dysplasia, Nishimura Type	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Short nose	OMIM:618618
Achondroplasia	Depressed nasal bridge, Brain stem compression, Choanal stenosis, Hydrocephalus, Frontal bossing	OMIM:100800
Renal Nutcracker Syndrome	Varicocele, Renal artery stenosis, Dysmenorrhea, Hematuria, Proteinuria, Vulval varicose vein, Dy...	ORPHA:71273
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Wide nasal bridge, Depressed nasal bridge, Renal hypoplasia, Broad nasal tip, Recurrent urinary t...	OMIM:617157
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Sparse hair	OMIM:620001
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Wide nasal bridge, Plagiocephaly, Bulbous nose, Prominent nasal bridge, Prominent occiput, Agenes...	OMIM:617360
Branchioskeletogenital Syndrome	Depressed nasal bridge, Absent external genitalia, Absent nipple, Broad nasal tip, Ureteral steno...	ORPHA:1299
9q subtelomeric deletion syndrome	Anteverted nares, Short nose	DECIPHER:52
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Homocystinuria, Ventriculomegaly, Cystathioninemia, Hypomethioninemia, Hydrocephalus, Hyperhomocy...	ORPHA:395
Von Hippel-Lindau Disease	Elevated circulating catecholamine level, Polycythemia, Neoplasm of the pancreas, Elevated urinar...	ORPHA:892
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Patchy alopecia, Sparse hair	OMIM:617763
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Unilateral renal agenesis, Choanal atresia, Plagiocephaly, Renal agenesis, Spina bifida occulta, ...	OMIM:619227
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Depressed nasal bridge, Cerebellar atrophy, Short nose	OMIM:617802
Borjeson-Forssman-Lehmann Syndrome	Hypoplasia of penis, Sparse hair, Thick eyebrow	ORPHA:127
Gorlin-Chaudhry-Moss Syndrome	Coronal craniosynostosis, Brachycephaly, Aplasia/Hypoplasia of the nasal bone	ORPHA:2095
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Fanconi Anemia, Complementation Group S	Long eyelashes, Sparse hair, Low anterior hairline	OMIM:617883
Distal 22Q11.2 Microduplication Syndrome	Unilateral renal agenesis, Depressed nasal ridge, Frontal bossing, Bulbous nose, Cryptorchidism, ...	ORPHA:261337
Congenital Sialidosis Type 2	Hepatosplenomegaly, Hydrocephalus, Abnormality of the kidney	ORPHA:93400
Waardenburg Syndrome Type 1	Wide nasal bridge, Underdeveloped nasal alae, Spina bifida, Meningocele, Short nose	ORPHA:894
Robinow Syndrome, Autosomal Dominant 3	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Vesicoureteral reflux, Cryptorchidis...	OMIM:616894
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse pubic hair, Sparse eyebrow, Hydroureter, Renal agenesis, Ureterocele, Fair hair, Vesicoure...	OMIM:129900
Meier-Gorlin Syndrome 6	Depressed nasal ridge, Depressed nasal bridge, Underdeveloped nasal alae, Decreased response to g...	OMIM:616835
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Plagiocephaly	OMIM:618725
Cousin Syndrome	Hydranencephaly, Ambiguous genitalia, female, Hydronephrosis, Ambiguous genitalia, male, Hydrocep...	OMIM:260660
Cockayne Syndrome A	Irregular menstruation, Ventriculomegaly, Cerebellar atrophy, Hypogonadism, Prominent nose, Renal...	OMIM:216400
Opsismodysplasia	Depressed nasal bridge, Splenomegaly, Frontal bossing, Short nose, Flat occiput	ORPHA:2746
Trichorhinophalangeal Syndrome Type 1	Sparse eyebrow, Leukonychia, Sparse eyelashes, Sparse hair, Fragile nails	ORPHA:77258
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Generalized hypotrichosis, Sparse eyebrow, Absent hair, Trichorrhexis nodosa, Ridged nail, Nail d...	ORPHA:1010
Cerebellofaciodental Syndrome	Ventriculomegaly, Hypoplasia of the pons, Cryptorchidism, Hypoplasia of the midbrain, Cerebellar ...	OMIM:616202
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Fibular hypoplasia, Short ribs, Hypoplastic v...	ORPHA:3144
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Wide nasal bridge, Bulbous nose, Depressed nasal bridge, Short nose	OMIM:617061
Tetraamelia Syndrome 1	Choanal atresia, Absent external genitalia, Renal agenesis, Adrenal gland agenesis, Urethral atre...	OMIM:273395
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperinsulinemia, Stage 5 chronic kidney disease, Hyperlipid...	OMIM:608612
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Elsahy-Waters Syndrome	Wide nasal bridge, Bifid nasal tip, Bifid scrotum, Bilateral cryptorchidism, Bulbous nose, Anteve...	OMIM:211380
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Congenital hypothyroidism, Ventriculomegaly, Short nose	OMIM:617527
Trichorhinophalangeal Syndrome, Type Iii	Sparse hair, Sparse lateral eyebrow, Fine hair	OMIM:190351
Mend Syndrome	Bulbous nose, Crossed fused renal ectopia, Prominent nasal bridge, Cryptorchidism, Hydrocephalus,...	OMIM:300960
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Sparse eyebrow, Sparse eyelashes, Thick hair, Sparse hair	OMIM:607626
Campomelic Dysplasia	Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening...	OMIM:114290
Orofaciodigital Syndrome Xiv	Cerebellar vermis hypoplasia, Occipital encephalocele, Trigonocephaly, Unilateral renal hypoplasi...	OMIM:615948
Pseudoaminopterin Syndrome	Horseshoe kidney, Prominent nasal bridge, Cryptorchidism, Dolichocephaly, Sagittal craniosynostos...	ORPHA:221120
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy, Pancytopenia, Thrombocytopenia	OMIM:613987
Msh3-Related Attenuated Familial Adenomatous Polyposis	Renal cyst, Thyroid adenoma, Ovarian dermoid cyst, Uterine leiomyoma	ORPHA:480536
Joubert Syndrome 38	Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Inferior cerebellar vermis hypoplasia,...	OMIM:619476
Adams-Oliver Syndrome	Leukopenia, Calvarial skull defect, Encephalocele, Hydrocephalus, Thrombocytopenia	ORPHA:974
Aromatase Deficiency	Female infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, Type II diabetes m...	ORPHA:91
Robinow-Sorauf Syndrome	Plagiocephaly, Narrow nose, Long nose, Craniosynostosis, Pansynostosis	OMIM:180750
Mosaic Variegated Aneuploidy Syndrome 2	Depressed nasal bridge, Decreased response to growth hormone stimulation test, Bulbous nose, Doli...	OMIM:614114
Aredyld Syndrome	Abnormality of the ureter, Aplasia/Hypoplasia of the eyebrow, Sparse body hair	ORPHA:1133
Robinow Syndrome, Autosomal Recessive 2	Wide nasal bridge, Broad nasal tip, Anteverted nares, Frontal bossing, Short nose	OMIM:618529
Al-Raqad Syndrome	Short nose	OMIM:616459
Phocomelia, Schinzel Type	Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi...	ORPHA:2879
De Barsy Syndrome	Cerebellar vermis hypoplasia, Brachycephaly, Prominent nasolabial fold, Cryptorchidism	ORPHA:2962
Senior-Boichis Syndrome	Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Hyperechoge...	ORPHA:84081
Carpenter Syndrome 2	Wide nasal bridge, Depressed nasal bridge, Bilateral cryptorchidism, Supernumerary nipple, Oxycep...	OMIM:614976
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron...	OMIM:613159
Holoprosencephaly 13, X-Linked	Alobar holoprosencephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Colpocephaly,...	OMIM:301043
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Plagiocephaly, Bilateral cryptorchidism, Hypogonadism, Hydrocephalus, Anemia	ORPHA:3042
Hec Syndrome	Communicating hydrocephalus, Vaginal hydrocele	ORPHA:2119
Kleefstra Syndrome 2	Plagiocephaly	OMIM:617768
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Sparse hair, Nail dystrophy	ORPHA:98813
Autosomal Recessive Robinow Syndrome	Wide nasal bridge, Depressed nasal bridge, Multicystic kidney dysplasia, Hypoplastic female exter...	ORPHA:1507
Autosomal Recessive Faciodigitogenital Syndrome	Anteverted nares, Prominent nasal bridge, Brachycephaly, Shawl scrotum, Frontal bossing, Short nose	ORPHA:1974
Achard Syndrome	Brachycephaly, Broad skull	OMIM:100700
Ctcf-Related Neurodevelopmental Disorder	Ventriculomegaly, Broad nasal tip, Anteverted nares, Short columella, Cryptorchidism, Phimosis, H...	ORPHA:363611
Intellectual Developmental Disorder, Autosomal Dominant 29	Brachycephaly, Frontal bossing, Cryptorchidism, Wide nose	OMIM:616078
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap...	OMIM:276820
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Alopecia, Sparse hair, Fragile nails	OMIM:242150
Renpenning Syndrome 1	Wide nasal bridge, Renal hypoplasia, Decreased testicular size, Bulbous nose, Phimosis, Brachycep...	OMIM:309500
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Sparse eyebrow, Dry hair, Sparse eyelashes, Nail dysplasia, Pili torti, Brittle hair, Progressive...	OMIM:225060
Alagille Syndrome 1	Focal segmental glomerulosclerosis, Depressed nasal bridge, Renal hypoplasia, Multiple small medu...	OMIM:118450
Scarf Syndrome	Low posterior hairline, Hypoplastic nipples, Micropenis, Perineal hypospadias, Sparse hair	ORPHA:3134
Beckwith-Wiedemann Syndrome	Nephropathy, Chiari malformation, Cryptorchidism, Polycythemia, Abnormal pancreas morphology, Adr...	ORPHA:116
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Sparse eyebrow, Sparse hair, Sparse eyelashes	OMIM:224900
3Q29 Microdeletion Syndrome	Horseshoe kidney, Prominent nasal bridge, Hypospadias, Short nose	ORPHA:65286
Frontofacionasal Dysplasia	Cranium bifidum occultum, Hypoplasia of the frontal bone, Underdeveloped nasal alae, Midline defe...	OMIM:229400
Tetrasomy 18P	Short nose	ORPHA:3307
Townes-Brocks Syndrome 1	Choanal atresia, Multicystic kidney dysplasia, Renal hypoplasia, Urethral valve, Bifid scrotum, R...	OMIM:107480
Boomerang Dysplasia	Absent radius, Fibular aplasia, Hypoplastic iliac body	OMIM:112310
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Brachycephaly, Hyposegmentation of neutrophil nuclei	OMIM:614800
Chromosome Xq27.3-Q28 Duplication Syndrome	Sparse body hair	OMIM:300869
Mckusick-Kaufman Syndrome	Multicystic kidney dysplasia, Hydrometrocolpos, Glandular hypospadias, Cryptorchidism, Renal hypo...	ORPHA:2473
Angelman Syndrome	Brachycephaly, Flat occiput	OMIM:105830
Witteveen-Kolk Syndrome	Wide nasal bridge, Flared nostrils, Ventriculomegaly, Depressed nasal bridge, Microphallus, Male ...	OMIM:613406
Senior-Loken Syndrome 1	Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ...	OMIM:266900
Woodhouse-Sakati Syndrome	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm...	ORPHA:3464
Mandibulofacial Dysostosis-Microcephaly Syndrome	Trigonocephaly, Short nose	ORPHA:79113
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Supernumerary nipple, Sparse body hair, Nail dystrophy, Sparse eyelashes, Absent eyelashes, Patch...	OMIM:106260
Oculodentodigital Dysplasia	Abnormality of the nose, Underdeveloped nasal alae, Broad columella, Cranial hyperostosis, Narrow...	ORPHA:2710
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Plagiocephaly	ORPHA:94066
Thoracoabdominal Syndrome	Renal agenesis, Hypospadias, Hydrocephalus, Anencephaly	OMIM:313850
Senior-Loken Syndrome 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis	OMIM:606995
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Spina bifida occulta, Anteverted nares, Short nose	OMIM:617877
Teebi-Shaltout Syndrome	Highly arched eyebrow, Ureteral stenosis, Horseshoe kidney, Low anterior hairline, Hydronephrosis...	OMIM:272950
Joubert Syndrome 17	Abnormal renal morphology, Molar tooth sign on MRI	OMIM:614615
Isolated Posterior Meningocele	Chiari malformation, Occipital meningocele, Hydrocephalus, Lipomyelomeningocele, Meningocele, Enu...	ORPHA:268810
C Syndrome	Depressed nasal bridge, Multicystic kidney dysplasia, Horseshoe kidney, Trigonocephaly, Anteverte...	ORPHA:1308
Cranioectodermal Dysplasia 3	Short nail, Nephronophthisis, Fine hair, Stage 5 chronic kidney disease, Broad nail, Sparse hair	OMIM:614099
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Wide nasal bridge, Imperforate hymen, Hematocolpos, Enuresis, Broad nasal tip, Renal agenesis, Bu...	OMIM:619522
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short nose	ORPHA:1389
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Depressed nasal bridge, Skull asymmetry, Craniosynostosis, Frontal bossing, Short nose	OMIM:616723
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Wide nasal bridge, Ventriculomegaly, Plagiocephaly, Bifid scrotum, Bulbous nose, Anteverted nares...	OMIM:619475
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Wide nasal bridge, Anteverted nares, Cryptorchidism, Male pseudohermaphroditism, Shawl scrotum, M...	ORPHA:2282
Primrose Syndrome	Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Broad nasal tip, Bilateral cryptorch...	OMIM:259050
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephro...	OMIM:600740
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Sparse eyebrow, Absent nipple, Fine hair, Sparse body hair, Concave nail, Sparse eyelashes, Absen...	OMIM:305100
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Depressed nasal bridge, Short nose	ORPHA:2835
Progressive Non-Infectious Anterior Vertebral Fusion	Wide nasal bridge, Depressed nasal bridge, Brachycephaly	ORPHA:2062
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Abnormal fingernail morphology, Alopecia, Sparse hair	ORPHA:659
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph...	OMIM:104200
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyebrow, Sparse eyelashes, Hydronephrosis, Patchy alopecia, Sparse hair	OMIM:302960
Premature Aging Syndrome, Penttinen Type	Elevated circulating thyroid-stimulating hormone concentration, Frontal bossing, Thin calvarium, ...	OMIM:601812
Macs Syndrome	Alopecia, Sparse hair, Sparse eyebrow, Urethral stenosis	OMIM:613075
Ciliary Dyskinesia, Primary, 19	Rhinitis, Nasal polyposis, Recurrent sinusitis, Male infertility	OMIM:614935
Fetal Alcohol Syndrome	Anteverted nares, Biparietal narrowing, Short nose	ORPHA:1915
Desbuquois Dysplasia 1	Concave nasal ridge, Depressed nasal bridge, Short nose	OMIM:251450
Ayme-Gripp Syndrome	Wide nasal bridge, Depressed nasal bridge, Craniofacial asymmetry, Chiari type I malformation, Br...	OMIM:601088
Chime Syndrome	Depressed nasal ridge, Acute leukemia, Hydronephrosis, Brachycephaly, Abnormality of the kidney	ORPHA:3474
Meier-Gorlin Syndrome 1	Genu recurvatum, Abnormal pelvic girdle bone morphology, Flat glenoid fossa, Small hand, Slender ...	OMIM:224690
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Anosmia, Bicoronal synostosis, Cryptorchidism, Anterior plagiocephaly, Hypogonadotropic hypogonad...	OMIM:619718
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Broad columella, Short nose	OMIM:617865
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Wide nasal bridge, Coronal craniosynostosis, Cholelithiasis, Pancreatic hypoplasia, Brachyturrice...	ORPHA:83617
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Otopalatodigital Syndrome, Type I	Wide nasal bridge, Prominent occiput, Frontal bossing, Short nose	OMIM:311300
Mend Syndrome	Elevated 8(9)-cholestenol, Prominent nasal bridge, Cryptorchidism, Hydrocephalus, Elevated 8-dehy...	ORPHA:401973
Loeys-Dietz Syndrome 5	Overhanging nasal tip, Dolichocephaly, Brachycephaly, Prominent nasal bridge	OMIM:615582
Multicentric Osteolysis, Nodulosis, And Arthropathy	Bulbous nose, Narrow nasal bridge, Brachycephaly, Frontal bossing	OMIM:259600
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Premature adrenarche, Depressed nasal bridge, Recurrent upper respiratory tract infections, Abnor...	ORPHA:293987
Mowat-Wilson Syndrome	Multicystic kidney dysplasia, Enlarged cerebellum, Cryptorchidism, Agenesis of corpus callosum, C...	ORPHA:2152
Wiedemann-Rautenstrauch Syndrome	Increased circulating prolactin concentration, Increased serum estradiol, Type II diabetes mellit...	ORPHA:3455
Scalp-Ear-Nipple Syndrome	Duplication of renal pelvis, Recurrent urinary tract infections, Breast aplasia, Abnormal fingern...	ORPHA:2036
Mandibulofacial Dysostosis, Guion-Almeida Type	Choanal atresia, Anteverted nares, Trigonocephaly, Short nose	OMIM:610536
Opsismodysplasia	Renal phosphate wasting, Depressed nasal bridge, Anteverted nares, Hypophosphatemia, Frontal boss...	OMIM:258480
Marbach-Schaaf Neurodevelopmental Syndrome	Enuresis nocturna, Depressed nasal bridge, Broad nasal tip, Plagiocephaly	OMIM:619680
Basel-Vanagaite-Smirin-Yosef Syndrome	Hydronephrosis, Sparse hair, Hypospadias	OMIM:616449
Scarf Syndrome	Low anterior hairline, Low posterior hairline, Hypoplastic nipples, Micropenis, Perineal hypospad...	OMIM:312830
Robinow Syndrome, Autosomal Recessive 1	Wide nasal bridge, Depressed nasal bridge, Nephrocalcinosis, Frontal bossing, Anteverted nares, H...	OMIM:268310
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormality of the urinary system, Chiari malformation, Recurrent urinary tract infections, Abnor...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormality of the urinary system, Chiari malformation, Recurrent urinary tract infections, Abnor...	ORPHA:353277
Aicardi-Goutières Syndrome	Ventriculomegaly, Neonatal alloimmune thrombocytopenia, Plagiocephaly, Hepatosplenomegaly, Chroni...	ORPHA:51
Mucopolysaccharidosis, Type Vii	Recurrent upper respiratory tract infections, Heparan sulfate excretion in urine, Urinary glycosa...	OMIM:253220
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy...	OMIM:157640
Acrocallosal Syndrome	Wide nasal bridge, Frontal bossing, Prominent occiput, Cryptorchidism, Agenesis of corpus callosu...	OMIM:200990
Common Variable Immunodeficiency	Lymphopenia, Decreased circulating antibody level, Splenomegaly, Brachycephaly, Autoimmune thromb...	ORPHA:1572
Achondrogenesis, Type Ii	Brachycephaly, Frontal bossing	OMIM:200610
Mucopolysaccharidosis, Type Vi	Cervical myelopathy, Depressed nasal bridge, Recurrent upper respiratory tract infections, Spleno...	OMIM:253200
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Cerebellar atrophy, Brachycephaly, Hypothyroidism, Delayed puberty, Pancreatic fibrosis, Shawl sc...	OMIM:616263
Orofaciodigital Syndrome Ii	Depressed nasal bridge, Bifid nasal tip, Broad nasal tip, Hydrocephalus	OMIM:252100
Ectodermal Dysplasia-Blindness Syndrome	Abnormal fingernail morphology, Sparse hair, Fine hair	ORPHA:1806
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Depressed nasal bridge, Chiari malformation, Bulbous nose, Antev...	OMIM:271510
Autosomal Dominant Robinow Syndrome	Abnormal penis morphology, Wide nasal bridge, Depressed nasal bridge, Frontal bossing, Anteverted...	ORPHA:3107
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Horseshoe kidney, Narrow nasal bridge, Renal hypoplasia/aplasia, Hy...	ORPHA:2092
Garg-Mishra Progeroid Syndrome	Sparse hair, Small nail	OMIM:620601
Intellectual Developmental Disorder, Autosomal Recessive 38	Plagiocephaly	OMIM:615516
X-Linked Intellectual Disability, Armfield Type	Aminoaciduria, Galactosuria, Depressed nasal bridge, Organic aciduria, Cryptorchidism, Brachycephaly	ORPHA:85276
Wiedemann-Steiner Syndrome	Wide nasal bridge, Decreased response to growth hormone stimulation test, Dolichocephaly, Dilatat...	ORPHA:319182
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Ventriculomegaly, Thick nasal alae, Heparan sulfate excretion in urine...	ORPHA:581
Coffin-Lowry Syndrome	Ventriculomegaly, Thick nasal septum, Broad columella, Thick nasal alae, Anteverted nares, Uterin...	OMIM:303600
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Sparse hair, Abnormal toenail morphology	ORPHA:1005
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Wide nasal bridge, Plagiocephaly, Underdeveloped nasal alae, Vesicoureteral reflux, Cryptorchidis...	ORPHA:453499
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Multicystic kidney dysplasia, Hydroureter, Cryptorchidism, Megacystis	ORPHA:2241
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Wide nasal bridge, Cerebellar vermis hypoplasia, Ventriculomegaly, Plagiocephaly, Hypoplasia of t...	OMIM:620455
Sting-Associated Vasculopathy, Infantile-Onset	Nailfold capillary tortuosity, Sparse hair, Periungual erythema, Nail dystrophy	OMIM:615934
Cranioectodermal Dysplasia 1	Short distal phalanx of finger, Rhizomelia, Clinodactyly, Short toe, Radial deviation of finger, ...	OMIM:218330
Basal Cell Nevus Syndrome 1	Wide nasal bridge, Ovarian carcinoma, Parietal bossing, Ovarian fibroma, Hydrocephalus, Spina bif...	OMIM:109400
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Wide nasal bridge, Clitoral hypertrophy, Agenesis of corpus callosum, ...	ORPHA:2556
Hydrolethalus Syndrome 1	Accessory spleen, Abnormal vagina morphology, Midline defect of the nose, Agenesis of corpus call...	OMIM:236680
Multiple Pterygium-Malignant Hyperthermia Syndrome	Small scrotum, Plagiocephaly, Abnormal circulating creatine kinase concentration, Prominent nasal...	ORPHA:2215
Bannayan-Riley-Ruvalcaba Syndrome	Uterine neoplasm, Anteverted nares, Thyroid carcinoma, Wide nose, Hashimoto thyroiditis, Dolichoc...	ORPHA:109
Distal Deletion 15Q	Multicystic kidney dysplasia, Broad nasal tip, Cryptorchidism, Decreased serum insulin-like growt...	ORPHA:1596
Arthrogryposis, Distal, Type 4	Depressed nasal bridge, Hypoplastic labia majora, Cranial asymmetry	OMIM:609128
Dyskeratosis Congenita	Alopecia, White hair, Premature graying of hair, Abnormal fingernail morphology, Abnormal eyebrow...	ORPHA:1775
Gaucher Disease	Splenic infarction, Ventriculomegaly, Cholelithiasis, Decreased HDL cholesterol concentration, In...	ORPHA:355
Lhermitte-Duclos Disease	Enlarged cerebellum, Neoplasm of the thyroid gland, Hydrocephalus, Ovarian neoplasm	ORPHA:65285
Atelosteogenesis Type I	Multiple renal cysts, Abnormal pancreatic duct morphology	ORPHA:1190
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Plagiocephaly	OMIM:618089
Coffin-Siris Syndrome 12	Depressed nasal bridge, Chiari malformation, Underdeveloped nasal alae, Frontal bossing, Horsesho...	OMIM:619325
Papillon-Lefèvre Syndrome	Hypertrichosis, Abnormal fingernail morphology, Sparse body hair, Nail dystrophy, Generalized hir...	ORPHA:678
Aspartylglucosaminuria	Depressed nasal bridge, Anteverted nares, Aspartylglucosaminuria, Thickened calvaria, Brachycepha...	OMIM:208400
Thauvin-Robinet-Faivre Syndrome	Renal dysplasia, Bifid ureter, Transient neutropenia, Nephroblastoma, Renal cyst, Renal malrotation	OMIM:617107
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Sparse eyebrow, Coarse hair, Dystrophic toenail, Supernumerary nipple, Hyperconvex fingernails, S...	ORPHA:1071
Weill-Marchesani Syndrome 1	Depressed nasal bridge, Brachycephaly, Broad skull	OMIM:277600
Saethre-Chotzen Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Plagiocephaly, Skull asymmetry, Parietal f...	OMIM:101400
7Q31 Microdeletion Syndrome	Enuresis nocturna, Galactosuria, Plagiocephaly, Prominent nose, Wide nasal ridge	ORPHA:251061
Orofaciodigital Syndrome Type 4	Choanal atresia, Depressed nasal ridge, Renal agenesis, Decreased testicular size, Primary adrena...	ORPHA:2753
Mandibuloacral Dysplasia	Alopecia, Sparse hair, Hypoplastic fingernail	ORPHA:2457
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus	OMIM:224400
Ruijs-Aalfs Syndrome	Sparse hair, Premature graying of hair	OMIM:616200
Aicardi Syndrome	Precocious puberty, Ventriculomegaly, Plagiocephaly, Aplasia/Hypoplasia of the cerebellum, Delaye...	ORPHA:50
Dyskeratosis Congenita, Autosomal Dominant 1	Alopecia, Premature graying of hair, Ridged nail, Nail dystrophy, Sparse hair, Nail pits	OMIM:127550
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Hypoplasia of penis, Sparse body hair	ORPHA:3068
Townes-Brocks Syndrome	Renal hypoplasia, Urethral valve, Chiari malformation, Abnormal vagina morphology, Abnormality of...	ORPHA:857
Proteus Syndrome	Depressed nasal bridge, Long penis, Thymus hyperplasia, Diabetes insipidus, Cranial hyperostosis,...	ORPHA:744
Dural Sinus Malformation	Abnormal cerebellum morphology, Myelopathy, Hydrocephalus	ORPHA:97339
Frank-Ter Haar Syndrome	Depressed nasal bridge, Broad nasal tip, Anteverted nares, Brachycephaly, Flat occiput	OMIM:249420
Williams Syndrome	Chiari malformation, Type II diabetes mellitus, Cryptorchidism, Polycystic ovaries, Short nose, P...	ORPHA:904
Yunis-Varon Syndrome	Clitoral hypertrophy, Abnormal occipital bone morphology, Renal artery stenosis, Anteverted nares...	ORPHA:3472
Short Syndrome	Alopecia, Sparse hair	ORPHA:3163
Bartsocas-Papas Syndrome 1	Absent external genitalia, Underdeveloped nasal alae, Bilateral cryptorchidism, Hypoplastic labia...	OMIM:263650
Osteogenesis Imperfecta, Type Xi	Brachycephaly	OMIM:610968
Semilobar Holoprosencephaly	Depressed nasal ridge, Central hypothyroidism, Proboscis, Decreased response to growth hormone st...	ORPHA:220386
Alobar Holoprosencephaly	Depressed nasal ridge, Central hypothyroidism, Proboscis, Decreased response to growth hormone st...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Depressed nasal ridge, Central hypothyroidism, Proboscis, Decreased response to growth hormone st...	ORPHA:93926
Lobar Holoprosencephaly	Depressed nasal ridge, Central hypothyroidism, Proboscis, Decreased response to growth hormone st...	ORPHA:93924
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Unilateral renal agenesis, Ventriculomegaly, Multicystic kidney dysplasia, Chiari malformation, R...	OMIM:308205
Otopalatodigital Syndrome, Type Ii	Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia...	OMIM:304120
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
Rothmund-Thomson Syndrome, Type 2	Alopecia, Sparse eyebrow, Premature graying of hair, Nail dystrophy, Sparse eyelashes, Absent eye...	OMIM:268400
Wolf-Hirschhorn Syndrome	Accessory spleen, Precocious puberty, Ventriculomegaly, Craniofacial asymmetry, Wide nasal bridge...	OMIM:194190
Limb Body Wall Complex	Wide nasal bridge, Choanal atresia, Depressed nasal bridge, Myelomeningocele, Encephalocele, Hydr...	ORPHA:2369
Sacral Defect With Anterior Meningocele	Urinary retention, Myelomeningocele, Myeloschisis, Neurogenic bladder, Hydrocephalus, Meningocele...	OMIM:600145
Spondylodysplastic Ehlers-Danlos Syndrome	Depressed nasal bridge, Hypogonadism, Anteverted nares, Cryptorchidism, Agenesis of pineal gland,...	ORPHA:536471
Lmna-Related Cardiocutaneous Progeria Syndrome	Alopecia universalis, Premature graying of hair, Papillary renal cell carcinoma, Absent eyelashes...	ORPHA:363618
Absent Radius-Anogenital Anomalies Syndrome	Rectovaginal fistula, Hydrocephalus, Perineal fistula	ORPHA:3016
Steinert Myotonic Dystrophy	Male hypogonadism, Cholelithiasis, Impotence, Decreased response to growth hormone stimulation te...	ORPHA:273
Achondrogenesis, Type Ia	Depressed nasal bridge, Hypoplastic nasal bridge, Anteverted nares, Turricephaly, Short nose	OMIM:200600
Dend Syndrome	Elevated hemoglobin A1c, Anteverted nares, Short nose	ORPHA:79134
Brachytelephalangic Chondrodysplasia Punctata	Depressed nasal ridge, Broad nasal tip, Nasal congestion, Thick nasal alae, Short columella, Shor...	ORPHA:79345
Neurodegeneration With Brain Iron Accumulation 1	Urinary incontinence, Acanthocytosis	OMIM:234200
Naxos Disease	Subungual hyperkeratosis, Sparse eyebrow, Sparse body hair, Nail dystrophy, Onycholysis, Curly ha...	OMIM:601214
Goldberg-Shprintzen Syndrome	Highly arched eyebrow, Thick eyebrow, Vesicoureteral reflux, Sparse hair, Synophrys	OMIM:609460
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Depressed nasal bridge, Anteverted nares, Short nose	ORPHA:314655
Mietens Syndrome	Wide nasal bridge, Short nose, Wide nose	ORPHA:2557
Agel Amyloidosis	Proteinuria, Stage 5 chronic kidney disease, Nail dystrophy, Sparse hair	ORPHA:85448
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Wide nasal bridge, Broad nasal tip, Plagiocephaly, Dolichocephaly, Spina bifida, Cyst of the duct...	OMIM:619480
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Highly arched eyebrow, High anterior hairline, Coarse hair, Sparse lateral eyebrow, Low posterior...	OMIM:617506
Oculodentodigital Dysplasia	Underdeveloped nasal alae, Narrow nose, Narrow nasal bridge, Anteverted nares, Neurogenic bladder...	OMIM:164200
Gaucher Disease, Type Iiic	Splenomegaly, Pancytopenia, Hydrocephalus	OMIM:231005
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Fine hair, Chordee, Brittle hair, Sparse hair, Hypospadias	OMIM:618891
Liver Disease, Severe Congenital	Hyperbilirubinemia, Hypospadias, Hypoproteinemia, Aminoaciduria, Plagiocephaly, Hypocalcemia, Ele...	OMIM:619991
Focal Dermal Hypoplasia	Broad nasal tip, Chiari malformation, Supernumerary nipple, Horseshoe kidney, Bifid ureter, Narro...	OMIM:305600
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Neurogenic bladder, Hydrocephalus	ORPHA:137667
Van Esch-O'Driscoll Syndrome	Depressed nasal bridge, Cerebellar atrophy, Hypogonadotropic hypogonadism, Spina bifida occulta, ...	OMIM:301030
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Hypercalcemia, Short nose	ORPHA:476126
Intellectual Developmental Disorder, Autosomal Dominant 58	Wide nasal bridge, Broad nasal tip, Plagiocephaly	OMIM:618106
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Plagiocephaly, Decreased response to growth hormone stimulation test, Horseshoe kidney, Anteverte...	ORPHA:444077
Pmm2-Cdg	Increased circulating prolactin concentration, Hyperinsulinemia, Aplasia of the ovary, Impaired n...	ORPHA:79318
Diphallia	Penoscrotal transposition, Bladder exstrophy, Bifid scrotum, Horseshoe kidney, Ectopic scrotum, D...	ORPHA:227
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Loose anagen hair, Long eyelashes, Curly hair, Duplicated collecting system, Sparse hair, Sparse ...	OMIM:607721
Robinow Syndrome, Autosomal Dominant 1	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Renal duplication, H...	OMIM:180700
Bloom Syndrome	Recurrent urinary tract infections, Azoospermia, Decreased proportion of CD4-positive T cells, Ne...	ORPHA:125
Tooth Agenesis, Selective, 4	Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Sparse body hair, Dystrophic fingernails, ...	OMIM:150400
Medulloblastoma	Cerebellar calcifications, Cerebellar cyst, Hydrocephalus	ORPHA:616
Marshall Syndrome	Thickened calvaria, Depressed nasal bridge, Anteverted nares, Short nose	OMIM:154780
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Plagiocephaly, Supernumerary nipple, Bilateral cryptorchidism, Narrow nasal bridge, Prominent nos...	ORPHA:466791
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Hydranencephaly, Myelomeningocele, Spina bifida, Meningocele	ORPHA:1393
Weill-Marchesani Syndrome 2	Depressed nasal bridge, Brachycephaly, Broad skull	OMIM:608328
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Depressed nasal bridge, Bulbous nose, Prominent nose, Anteverted nares, Prominent nasal bridge, P...	OMIM:612474
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Brachycephaly, Frontal bossing, Supernumerary nipple	ORPHA:1236
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Plagiocephaly, Cryptorchidism	ORPHA:2063
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Depressed nasal bridge, Short nose, Craniosynostosis, Frontal bossing, Increased size of nasophar...	ORPHA:457395
Cutis Laxa, Autosomal Recessive, Type Iiib	Sparse hair, Fine hair	OMIM:614438
Acrofrontofacionasal Dysostosis 1	Wide nasal bridge, Brachycephaly	OMIM:201180
Autosomal Recessive Malignant Osteopetrosis	Splenomegaly, Hypocalcemia, Chronic rhinitis, Hypophosphatemia, Hydrocephalus, Anemia, Craniosyno...	ORPHA:667
Attenuated Familial Adenomatous Polyposis	Thyroid adenoma, Multiple renal cysts, Uterine leiomyoma	ORPHA:220460
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Bifid ureter, Transient neutropenia, Nephroblastoma, Spina bifida o...	ORPHA:500095
Chromosome 16P13.3 Duplication Syndrome	Wide nasal bridge, Depressed nasal bridge, Bulbous nose, Anteverted nares, Cryptorchidism, Dolich...	OMIM:613458
Glass Syndrome	Nail dysplasia, Long eyelashes, Sparse hair	OMIM:612313
Peroxisome Biogenesis Disorder 4B	Adrenal insufficiency, Ureterocele, Short nose	OMIM:614863
Okamoto Syndrome	Wide nasal bridge, Urinary incontinence, Depressed nasal bridge, Underdeveloped nasal alae, Antev...	ORPHA:2729
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Plagiocephaly, Broad nasal tip, Supernumerary nipple, Midline nasal groove, Abnormal reproductive...	ORPHA:1521
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:612199
Isotretinoin-Like Syndrome	Anteverted nares, Hydrocephalus	ORPHA:2306
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia, Delayed puberty, Convex nasal ridge, Calcinosis, Short nose	ORPHA:90154
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Brachycephaly	ORPHA:2988
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormality of the upper urinary tract, Plagiocephaly, Vaginal hernia	ORPHA:2916
Hunter-Macdonald Syndrome	Brachycephaly, Hypospadias	OMIM:611962
Cryptococcosis	Lymphoid leukemia, Prostatitis, Hydrocephalus	ORPHA:1546
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus, Hydrocephalus	ORPHA:2736
Sponastrime Dysplasia	Precocious puberty, Depressed nasal bridge, Chiari malformation, Frontal bossing, Anteverted nare...	ORPHA:93357
Turnpenny-Fry Syndrome	Cerebellar vermis hypoplasia, Plagiocephaly, Prominent nasal tip, Brachycephaly, Frontal bossing	OMIM:618371
Branchiooculofacial Syndrome	Depressed nasal bridge, Broad nasal tip, Renal agenesis, Supernumerary nipple, Ectopic thymus tis...	OMIM:113620
Kinsship Syndrome	Osteopenia, Micrognathia, Fibular hypoplasia, Polydactyly, Coxa valga, Pes planus, Dislocated rad...	OMIM:619297
Anauxetic Dysplasia 3	Depressed nasal bridge, Plagiocephaly	OMIM:618853
Nicolaides-Baraitser Syndrome	Dry hair, Sparse medial eyebrow, Hypertrichosis, Long eyelashes, Low anterior hairline, Low poste...	OMIM:601358
Revesz Syndrome	Ridged fingernail, Fine hair, Nail dystrophy, Sparse hair, Nail pits	OMIM:268130
Bone Marrow Failure Syndrome 3	Nail dystrophy, Sparse hair, Small nail, Aplasia/Hypoplasia of the eyebrow	OMIM:617052
Pallister-Killian Syndrome	Wide nasal bridge, Small scrotum, Ventriculomegaly, Depressed nasal bridge, Supernumerary nipple,...	OMIM:601803
Charge Syndrome	Bifid femur, Short thumb, Retinal coloboma, Micrognathia, Down-sloping shoulders, Hypogonadotropi...	OMIM:214800
Glycogen Storage Disease Of Heart, Lethal Congenital	Hydrocephalus, Enlarged kidney	OMIM:261740
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Underdeveloped nasal alae, Bulbous nose, Short columella, Prominent nasal bridge, Short nose	ORPHA:364577
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair	ORPHA:50814
Williams-Beuren Syndrome	Short nose, Broad nasal tip, Early onset of sexual maturation, Renal insufficiency, Cerebellar hy...	OMIM:194050
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Plagiocephaly, Cerebellar atrophy, Elevated circulating creatine kinase concentration, Neurogenic...	ORPHA:496641
Schneckenbecken Dysplasia	Short nose	OMIM:269250
Congenital Myopathy 22B, Severe Fetal	Wide nasal bridge, Frontal bossing, Short nose	OMIM:620369
Arthrogryposis And Ectodermal Dysplasia	Brachycephaly, Diabetes mellitus	OMIM:601701
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Sparse hair, Hirsutism, Toenail dysplasia, Synophrys	OMIM:300966
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Sparse pubic hair, Alopecia, Sparse eyebrow, Abnormal eyebrow morphology, Breast hypoplasia, Alop...	ORPHA:2232
Kid Syndrome	Trichilemmoma, Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Scarring alopecia of scalp, Spar...	ORPHA:477
Temtamy Preaxial Brachydactyly Syndrome	Short nose	ORPHA:363417
Ablepharon Macrostomia Syndrome	Fine hair, Breast hypoplasia, Absent eyelashes, Abnormal hair pattern, Absent eyebrow, Hypoplasia...	ORPHA:920
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Prominent nasal tip, Brachyturricephaly, Short nose	ORPHA:522077
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Ventriculomegaly, Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebellar hypoplasia, Hydro...	OMIM:253280
Peters-Plus Syndrome	Ventriculomegaly, Renal hypoplasia, Frontal bossing, Cryptorchidism, Agenesis of corpus callosum,...	OMIM:261540
Sturge-Weber Syndrome	Chiari malformation, Hydrocephalus	ORPHA:3205
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Short nose	OMIM:277450
Mucolipidosis Ii Alpha/Beta	Sparse eyebrow, Mucopolysacchariduria, Brittle hair, Sparse hair, Enlarged kidney	OMIM:252500
Chondrodysplasia Punctata, Autosomal Dominant	Sparse hair, Coarse hair	OMIM:118650
Lysinuric Protein Intolerance	Aminoaciduria, Hyperlysinuria, Fine hair, Oroticaciduria, Stage 5 chronic kidney disease, Sparse ...	OMIM:222700
Costello Syndrome	Depressed nasal bridge, Ventriculomegaly, Enlarged cerebellum, Anteverted nares, Renal insufficie...	OMIM:218040
Rothmund-Thomson Syndrome	Sparse eyebrow, Small nail, Alopecia totalis, Sparse eyelashes, Nail dysplasia, Sparse hair, Abno...	ORPHA:2909
Cutis Marmorata Telangiectatica Congenita	Multicystic kidney dysplasia, Hypothyroidism, Displacement of the urethral meatus	ORPHA:1556
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Breast hypoplasia, Sparse hair, Small nail, Nail dysplasia	OMIM:614813
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Sparse hair	OMIM:615349
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Short nose, Narrow naris	OMIM:122880
Joubert Syndrome 8	Occipital encephalocele, Molar tooth sign on MRI	OMIM:612291
Duane Retraction Syndrome	Wide nasal bridge, Plagiocephaly, Anteverted nares, Spina bifida occulta, Ectopic kidney	ORPHA:233
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus	ORPHA:220295
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Plagiocephaly, Supernumerary nipple	OMIM:616579
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Alopecia, Hydroureter, Hypoplastic fingernail, Abnormal hair morphology, Hyperconvex fingernails,...	ORPHA:2273
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Aplasia of the eccrine sweat glands	OMIM:300291
Monosomy 22	Micropenis, Sparse hair, Synophrys	ORPHA:96123
Neurofibromatosis Type 1	Precocious puberty, Chronic myelogenous leukemia, Pheochromocytoma, Cryptorchidism, Abnormality o...	ORPHA:636
Chromosome 15Q11.2 Deletion Syndrome	Bulbous nose, Plagiocephaly, Narrow nose	OMIM:615656
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair	OMIM:607812
Intellectual Developmental Disorder, Autosomal Dominant 54	Sparse hair, Urinary retention, Thin nail	OMIM:617799
Arboleda-Tham Syndrome	Bifid nasal tip, Plagiocephaly, Broad nasal tip, Bilateral cryptorchidism, Recurrent urinary trac...	OMIM:616268
Cerebrocostomandibular Syndrome	Horseshoe kidney, Renal cyst, Ectopic kidney	OMIM:117650
Cockayne Syndrome B	Dry hair, Abnormal hair morphology, Renal insufficiency, Proteinuria, Micropenis, Sparse hair	OMIM:133540
Arterial Tortuosity Syndrome	Craniosynostosis, Short nose	ORPHA:3342
Fibrochondrogenesis	Depressed nasal bridge, Anteverted nares, Plagiocephaly	ORPHA:2021
Normosmic Congenital Hypogonadotropic Hypogonadism	Micropenis, Breast hypoplasia, Sparse body hair	ORPHA:432
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Chiari malformation, Renal agenesis, Occipital encephalocele, Vesic...	OMIM:164210
Viss Syndrome	Depressed nasal bridge, Increased circulating IgE level, Decreased circulating IgA level, Hypereo...	OMIM:619472
Aspartylglucosaminuria	Wide nasal bridge, Aspartylglucosaminuria, Splenomegaly, Thickened calvaria, Macroorchidism, Shor...	ORPHA:93
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Sparse hair	OMIM:615508
Menkes Disease	Bladder diverticulum, Hypopigmentation of hair, Sparse hair, Woolly hair	ORPHA:565
Down Syndrome	Hypothyroidism, Brachycephaly, Myeloproliferative disorder, Acute megakaryocytic leukemia	OMIM:190685
Acromesomelic Dysplasia 1	Frontal bossing, Short nose	OMIM:602875
Aprosencephaly And Cerebellar Dysgenesis	Cerebellar dysplasia, Aprosencephaly, Absent mesencephalon, Craniosynostosis, Poorly formed meten...	OMIM:601374
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Alopecia, Abnormality of the urinary system, Hydroureter, Thin eyebrow, Hydronephrosis, Abnormali...	ORPHA:2636
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Sparse pubic hair, Sparse body hair, Polycystic ovaries, Enlarged polycystic ovaries, Sparse axil...	ORPHA:90796
Temtamy Preaxial Brachydactyly Syndrome	Plagiocephaly	OMIM:605282
Full Nf2-Related Schwannomatosis	Hydrocephalus, Abnormal cerebellum morphology, Myelopathy, Brain stem compression	ORPHA:637
Woodhouse-Sakati Syndrome	Micropenis, Alopecia, Sparse hair, Fine hair	OMIM:241080
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Low posterior hairline, Highly arched eyebrow, Sparse hair, Fine hair	OMIM:613563
Rothmund-Thomson Syndrome Type 1	Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Aplasia/Hypoplasia of the eyebrow, ...	ORPHA:221008
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd...	ORPHA:1112
Combined Immunodeficiency-Enteropathy Spectrum	Sparse hair, Absent eyebrow, Nail dystrophy, Alopecia of scalp	ORPHA:436252
Ectodermal Dysplasia-Skin Fragility Syndrome	Urethral stricture, Alopecia universalis, Sparse hair, Nail dystrophy	ORPHA:158668
Fetal Akinesia Deformation Sequence 1	Cerebellar hypoplasia, Depressed nasal tip, Hydrocephalus, Cryptorchidism	OMIM:208150
Rothmund-Thomson Syndrome Type 2	Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Aplasia/Hypoplasia of the eyebrow, ...	ORPHA:221016
Menke-Hennekam Syndrome 1	Depressed nasal ridge, Recurrent upper respiratory tract infections, Depressed nasal bridge, Unde...	OMIM:618332
Ectodermal Dysplasia And Immunodeficiency 2	Aplasia of the sweat glands, Sparse hair, Sparse scalp hair	OMIM:612132
Congenital Fibrosis Of Extraocular Muscles	Hypogonadotropic hypogonadism, Plagiocephaly	ORPHA:45358
Lenz-Majewski Hyperostotic Dwarfism	Chordee, Sparse hair, Hypospadias	OMIM:151050
Intellectual Developmental Disorder, Autosomal Dominant 68	Urinary incontinence, Sparse hair	OMIM:619934
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Renal hypoplasia, Sparse hair	OMIM:620005
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Choanal atresia, Semilobar holoprosencephaly, Narrow nose, Anteverted nares, Short nose	OMIM:301044
Cystic Fibrosis	Nasal polyposis, Absent vas deferens, Male infertility, Nephrolithiasis	ORPHA:586
Atypical Werner Syndrome	Abnormal hair whorl, Alopecia, Glycosuria, Premature graying of hair, Abnormal hair morphology, S...	ORPHA:79474
Lipodystrophy, Familial Partial, Type 7	Type I diabetes mellitus, Narrow nasal ridge, Hypercholesterolemia, Polyuria, Hypertriglyceridemi...	OMIM:606721
Blomstrand Lethal Chondrodysplasia	Depressed nasal bridge, Anteverted nares, Short nose	ORPHA:50945
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Dolichocephaly, Plagiocephaly, Cryptorchidism	ORPHA:1101
Atelosteogenesis Type Ii	Wide nasal base, Plagiocephaly	ORPHA:56304
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Sparse eyebrow, Absent nipple, Small nail, Nail dystrophy, Hypoplastic nipples, Sparse hair	OMIM:620186
Faundes-Banka Syndrome	Plagiocephaly, Underdeveloped nasal alae, Bulbous nose, Cryptorchidism, Premature thelarche, Dela...	OMIM:619376
Cystic Fibrosis	Hepatosplenomegaly, Hypercalciuria, Nasal polyposis, Male infertility	OMIM:219700
Myhre Syndrome	Sparse hair, Thick eyebrow, Fine hair	OMIM:139210
Ablepharon-Macrostomia Syndrome	Hypoplastic fingernail, Absent eyelashes, Hypoplastic nipples, Absent eyebrow, Micropenis, Sparse...	OMIM:200110
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hydronephrosis, Abnormal renal morphology, Hydrocephalus, Renal hypoplasia/aplasia	ORPHA:363700
Restrictive Dermopathy	Sparse eyebrow, Short nail, Sparse or absent eyelashes, Aplasia/Hypoplastia of the eccrine sweat ...	ORPHA:1662
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Depressed nasal ridge, Depressed nasal bridge, Enlarged naris, Concave nasal ridge, Frontal bossi...	OMIM:271665
Geleophysic Dysplasia 1	Wide nasal bridge, Anteverted nares, Short nose	OMIM:231050
Abnormal Hair, Joint Laxity, And Developmental Delay	Plagiocephaly	OMIM:261990
Trichorhinophalangeal Syndrome, Type Ii	Wide nasal bridge, Recurrent upper respiratory tract infections, Plagiocephaly, Skull asymmetry, ...	OMIM:150230
Geleophysic Dysplasia 2	Short nose	OMIM:614185
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Proteinuria, Nail dysplasia, Sparse hair	OMIM:616682
1P21.3 Microdeletion Syndrome	Broad nasal tip, Short nose	ORPHA:293948
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Elevated circulating creatine kinase concentration, Hemolytic anemia, Hydrocephalus, Cerebellar a...	OMIM:175780
Loeys-Dietz Syndrome 1	Craniosynostosis, Chiari malformation, Hydrocephalus	OMIM:609192
Cornelia De Lange Syndrome 6	Anteverted nares, Short nose	OMIM:620568
Stickler Syndrome	Depressed nasal bridge, Depressed nasal ridge, Anteverted nares, Short nose	ORPHA:828
Loeys-Dietz Syndrome 2	Craniosynostosis, Chiari malformation, Hydrocephalus	OMIM:610168
Leprosy	Loss of eyelashes, Alopecia, Absent eyebrow, Sparse body hair	ORPHA:548
Cleidocranial Dysplasia 2	Plagiocephaly	OMIM:620099
Wrinkly Skin Syndrome	Short nail, Sparse hair, Fragile nails	OMIM:278250
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Depressed nasal bridge, Plagiocephaly, Chalazion	OMIM:613355
Wrinkly Skin Syndrome	Sparse hair	ORPHA:2834
Amyotrophic Lateral Sclerosis	Fatigable weakness of respiratory muscles, Fatigable weakness of bulbar muscles, Fatigable weakne...	ORPHA:803
Amyotrophic Lateral Sclerosis, Susceptibility To, 24		OMIM:617892

Histopathology

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

There is no histopathology data for Nek1

IMPC related publications

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

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

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Nek1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Nek1^em1(IMPC)Bay	Exon Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Nek1 MGI:97303

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Eye Morphology

Eye Morphology

Eye Morphology

X-ray

X-ray

X-ray

Eye Morphology

X-ray

Human diseases caused by Nek1 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 21.1 Data