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Gene: Dpcd MGI:1924407

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
deleted in primary ciliary dyskinesia
Synonyms:
Ndac,  Gm17018,  5330431N19Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No 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.

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.

Phenotype associated images not available

Human diseases caused by Dpcd 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Recurrent pneumonia, Coiled sperm flage... OMIM:301101
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Sensorineural hearing impairment, Immotile sperm OMIM:608653
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Intellectual Developmental Disorder, X-Linked 103
Anteverted nares, Bilateral cryptorchidism, Lateral ventricle dilatation, Micropenis, Polymicrogyria OMIM:300982
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Polyrrhinia
Abnormal third ventricle morphology, Abnormal nasal bone morphology, Abnormal external nose morph... ORPHA:141091
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Deafness-Infertility Syndrome
Male infertility, Azoospermia, Sensorineural hearing impairment ORPHA:94064
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Leukoencephalopathy With Vanishing White Matter 5
Loss of ambulation, Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Holoprosencephaly 5
Depressed nasal bridge, Anteverted nares, Syntelencephaly, Alobar holoprosencephaly, Hydrocephalu... OMIM:609637
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio... OMIM:600348
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Martsolf Syndrome 2
Lateral ventricle dilatation, Macrotia, Hypogonadotropic hypogonadism, Broad nasal tip OMIM:619420
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Lateral ventricle dilatation, Dilated third ventricle, Scissor gait ORPHA:363654
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Prominent nose, Cryptorchidism, Simplified gyral pattern, Lateral ventricle dilatation, Low-set e... OMIM:619244
Hypotonia, Infantile, With Psychomotor Retardation
Respiratory insufficiency due to muscle weakness, Cryptorchidism, Lateral ventricle dilatation OMIM:616816
Ciliary Dyskinesia, Primary, 14
Male infertility, Neonatal respiratory distress, Absent inner dynein arms, Rhinorrhea, Situs inve... OMIM:613807
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Gray matter h... OMIM:604213
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Depressed nasal bridge, Anteverted nares, Inability to walk, Lateral ve... OMIM:613443
Leukoencephalopathy, Progressive, With Ovarian Failure
Lateral ventricle dilatation, Premature ovarian insufficiency, Ataxia OMIM:615889
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus, Wide nasal bridge OMIM:209970
Autosomal Recessive Spastic Paraplegia Type 46
Broad-based gait, Ataxia, Hearing impairment, Reduced sperm motility, Infertility, Difficulty wal... ORPHA:320391
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Polymicrogyria, Ventriculomegaly OMIM:615938
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Pineocytoma
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking ORPHA:251912
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Nasal polyposis, Situs inversus totalis, Bronchiectasis, Decreased nasal nitric... OMIM:620197
Isochromosomy Yp
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size ORPHA:98797
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Neonatal asphyxia, Lateral ventricle dilatation, Difficulty walking ORPHA:306669
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Hypospadias, Anteverted nares, Prominent nasal bridge, Eczema, Sensorin... OMIM:617751
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ataxia, Abnormality of neuronal migration, Ventriculomegaly OMIM:618709
Ciliary Dyskinesia, Primary, 41
Impaired nasal mucociliary clearance, Bronchiectasis, Infertility, Recurrent sinusitis, Immotile ... OMIM:618449
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Polymicrogyria, Ventriculomegaly OMIM:615937
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Cryptorchidism, Hydrocephalus, Asthma, Hypogonadism, Gait disturbance, Micropenis, Dilated third ... ORPHA:500055
Cach Syndrome
Premature ovarian insufficiency, T2 hypointense thalamus, Secondary amenorrhea, Primary amenorrhe... ORPHA:135
Ciliary Dyskinesia, Primary, 18
Male infertility, Neonatal respiratory distress, Absent inner dynein arms, Situs inversus totalis... OMIM:614874
Joubert Syndrome 3
Central apnea, Enlarged fossa interpeduncularis, Frontal polymicrogyria, Anteverted nares, Ataxia... OMIM:608629
Global Developmental Delay With Or Without Impaired Intellectual Development
Bulbous nose, Lateral ventricle dilatation, Hypospadias, Low-set ears OMIM:618330
Spermatogenic Failure 17
Male infertility OMIM:617214
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility, Neonatal respiratory distress, Situs inversus totalis, Bronchiectasis, Decrease... OMIM:300991
Lissencephaly 4
Simplified gyral pattern, Wide nasal bridge, Colpocephaly, Lissencephaly, Agenesis of corpus call... OMIM:614019
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Glutamine Deficiency, Congenital
Neonatal respiratory distress, Anteverted nares, Depressed nasal bridge, Apnea, Wide nasal bridge... OMIM:610015
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Bilateral cryptorchidism, Dysplastic corpus callosum, Bulbous nose, Asthma, Macrotia, Sensorineur... ORPHA:544488
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Broad nasal tip, Inability to walk, Wide nasal bridge, Large earlobe, Lateral ventricle dilatatio... OMIM:615716
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly OMIM:611808
Ciliary Dyskinesia, Primary, 12
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Bronchiecta... OMIM:612650
Vitamin K Antagonist Embryofetopathy
Anteverted nares, Choanal atresia, Depressed nasal bridge, Hydrocephalus, Myelomeningocele, Respi... ORPHA:1914
Ciliary Dyskinesia, Primary, 46
Hearing impairment, Reduced forced expiratory volume in one second, Reduced forced vital capacity... OMIM:619436
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Ataxia, Inability to walk, Partial agenesis of the corpus callosum... ORPHA:79243
Ciliary Dyskinesia, Primary, 26
Neonatal respiratory distress, Situs inversus totalis, Absent outer dynein arms, Bronchiectasis, ... OMIM:615500
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Low-set, posteriorly rotated ears, Occipital encephalocele, Dandy-Walker malformation, Chronic lu... ORPHA:397715
Ciliary Dyskinesia, Primary, 15
Neonatal respiratory distress, Nasal polyposis, Situs inversus totalis, Cough, Wheezing, Abnormal... OMIM:613808
Edinburgh Malformation Syndrome
Anteverted nares, Choanal atresia, Hydrocephalus, Abnormality of neuronal migration, Respiratory ... ORPHA:1895
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bradykinesia, Dilated third ventricle, Ataxia OMIM:619725
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation, Lissencephaly,... ORPHA:300573
Ciliary Dyskinesia, Primary, 9
Male infertility, Neonatal respiratory distress, Pneumonia, Situs inversus totalis, Absent outer ... OMIM:612444
Basel-Vanagaite-Smirin-Yosef Syndrome
Anteverted nares, Hypospadias, Inability to walk, Recurrent pneumonia, Pulmonary arterial hyperte... ORPHA:464738
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Tip-toe gait, Dilated thir... OMIM:617296
Congenital Hydrocephalus
Posteriorly rotated ears, Abnormal cortical gyration, Bulbous nose, Hydrocephalus, Sensorineural ... ORPHA:2185
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Ataxia ORPHA:99966
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Respiratory insufficiency, Limb ataxia, Lateral ventricle dilatation, Intercostal muscle ... OMIM:607596
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Wide nose, Depressed nasal bridge, Broad nasal tip, Long nose, Wide nasal bridge, Lateral ventric... OMIM:619995
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Type II lissencephaly, Hydrocephalus, Lateral ventricle dilatation, Di... OMIM:613154
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation, Simplified gyral pattern, Respiratory insufficiency OMIM:617668
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Posteriorly rotated ears, Underdeveloped antitragus, Prominent nose, Abnormal preputium morpholog... ORPHA:293725
Adams-Oliver Syndrome 2
Depressed nasal bridge, Bulbous nose, Hydrocephalus, Protruding ear, Lateral ventricle dilatation... OMIM:614219
Pontocerebellar Hypoplasia, Type 13
Anteverted nares, Inability to walk, Asthma, Overfolded helix, Gait ataxia, Lateral ventricle dil... OMIM:618606
Ciliary Dyskinesia, Primary, 34
Male infertility, Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, A... OMIM:617091
Methylmalonic Acidemia With Homocystinuria
Skin rash, Lethargy, Hydrocephalus, Gait disturbance ORPHA:26
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Choanal atresia, Hydrocephalus, Respiratory insufficiency, Conductive hearing impairment, Inflamm... ORPHA:93262
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hypogonadotropic hypogonadism, Choanal atresia, Cryptorchidism, Sensorineural hearing impairment,... OMIM:147950
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Primary Ciliary Dyskinesia
Male infertility, Neonatal respiratory distress, Nasal polyposis, Female infertility, Productive ... ORPHA:244
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Ciliary Dyskinesia, Primary, 22
Neonatal respiratory distress, Nasal polyposis, Situs inversus totalis, Bronchiectasis, Decreased... OMIM:615444
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... OMIM:620103
Alg2-Cdg
Lateral ventricle dilatation, Wide nasal bridge ORPHA:79326
Distal Duplication 18Q
Low-set, posteriorly rotated ears, Hypoplasia of penis, Anteverted nares, Choanal atresia, Promin... ORPHA:1716
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Hypospadias ORPHA:250994
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Choanal atresia OMIM:612247
Central Precocious Puberty In Male
Acne, Abnormality of the testis size, Pituitary microadenoma, Hydrocephalus, Hypothalamic hamarto... ORPHA:649929
Intellectual Developmental Disorder, Autosomal Dominant 56
Broad-based gait, Ataxia, Inability to walk, Sensorineural hearing impairment, Protruding ear, Br... OMIM:617854
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Wide nose, Abnormal nasal bone morphology, Choanal atresia, Underdeveloped nasal alae, Bifid nasa... ORPHA:521308
Crouzon Syndrome
Choanal atresia, Hydrocephalus, Respiratory insufficiency, Conjunctivitis, Conductive hearing imp... ORPHA:207
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Abnormal pinna morphology, Recurrent upper respiratory tract infections... ORPHA:3078
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Depressed nasal bridge, Simplified gyral pattern, Lissencephaly ORPHA:284417
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus, Periodontitis, Hearing impairment ORPHA:1008
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Short nose, Agenesis of corpu... OMIM:618577
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Anteverted nares, Depressed nasal bridge, Periventricular heterotopia, Bulbous nose, Lateral vent... OMIM:614105
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Macrotia, Simplified gyral pattern, Respiratory insufficiency, Prominen... OMIM:615574
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation OMIM:618266
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus, Truncal ataxia OMIM:220200
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Wide nose, Abnormal lateral ventricle morphology, Depressed nasal bridge, Gait ataxia, Gait imbal... ORPHA:488635
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Abnormal pinna morphology, Respiratory insufficiency due to muscle weakness, Peris... OMIM:618291
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Neonatal respiratory distress, Hydrocephalus OMIM:266100
X-Linked Intellectual Disability, Wilson Type
Hydrocele testis, Lateral ventricle dilatation ORPHA:85290
Aicardi Syndrome
Anteverted nares, Spina bifida, Precocious puberty, Pachygyria, Partial agenesis of the corpus ca... OMIM:304050
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Hypogonadotropic hypogonadism, Choanal atresia, Abnormalit... ORPHA:1135
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Nasal polyposis, Situs inversus totalis, Recurrent pneumonia, Bron... OMIM:608647
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Alg13-Cdg
Abnormal lateral ventricle morphology, Anteverted nares ORPHA:324422
Cog5-Cdg
Posteriorly rotated ears, Prominent nose, Cryptorchidism, Sensorineural hearing impairment, Wide ... ORPHA:263487
Gómez-López-Hernández Syndrome
Low-set ears, Hydrocephalus, Anteverted nares, Ataxia ORPHA:1532
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Respiratory insufficiency, Gray matter heterotopia, Lateral ... OMIM:617397
Central Neurocytoma
Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus, Lethargy, Tinnitus ORPHA:73256
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Pachygyria, Wide nasal bridge, Low-set ears OMIM:614870
Masa Syndrome
Hydrocephalus, Agenesis of corpus callosum, Shuffling gait, Ventriculomegaly OMIM:303350
Rere-Related Neurodevelopmental Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Hypospadias, Choanal atresia, Cryptorchidism... ORPHA:494344
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Depressed nasal bridge, Hydrocephalus, Sensorineural hearing impairment, Lateral ventricle dilata... OMIM:619575
Burn-Mckeown Syndrome
Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia ORPHA:1200
Fried Syndrome
Hydrocephalus, Macrotia, Gait disturbance, Hearing impairment ORPHA:85335
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Reduced forced expiratory volume in one second, Situs inversus totalis, Absent ou... OMIM:618300
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Cryptorchidism, Choanal atresia OMIM:613970
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Depressed nasal bridge, Choanal atresia, Posteriorly rotated ears, Bulbous nose, Short nose, Vent... ORPHA:284169
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Ciliary Dyskinesia, Primary, 11
Neonatal respiratory distress, Bronchiectasis, Decreased nasal nitric oxide, Abnormal central mic... OMIM:612649
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Anteverted nares, Low-set ears OMIM:300884
Malan Overgrowth Syndrome
Episodic ataxia, Lateral ventricle dilatation, Depressed nasal bridge, Ventriculomegaly ORPHA:420179
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Depressed nasal bridge, Choanal atresia, Bilateral cryptorchidism, Coronal hypo... OMIM:619859
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation ORPHA:77299
Bainbridge-Ropers Syndrome
Anteverted nares, Prominent nasal bridge, Depressed nasal bridge, Underdeveloped nasal alae, Prec... OMIM:615485
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cryptorchidism, Sensorineural hearing impairment, Lateral ventricle dilatation, Respiratory failu... OMIM:619847
Craniosynostosis 6
Sensorineural hearing impairment, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of... OMIM:616602
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Lateral ventricle dilatation, Gait disturbance OMIM:221770
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Respiratory distress, Anteverted nares, Depressed nasal bridge, Choanal atresia, C... ORPHA:1555
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Simplified gyral pattern, Broad-based gait OMIM:619470
Burn-Mckeown Syndrome
Prominent nasal bridge, Choanal atresia, Underdeveloped nasal alae, Bilateral choanal atresia/ste... OMIM:608572
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Frontal encephalocele ORPHA:261102
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Male infertility, Nasal polyposis, Pneumonia, Situs inversus totalis... OMIM:244400
Biemond Syndrome Type 2
Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism, Hypospadias ORPHA:141333
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism, Increased CSF lactate, Lateral ventricle dilatation, Tip-toe gait, Loss of ambula... ORPHA:565624
Microcephaly 10, Primary, Autosomal Recessive
Simplified gyral pattern, Prominent nasal bridge, Agenesis of corpus callosum, Choanal atresia OMIM:615095
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... OMIM:618736
Williams-Beuren Region Duplication Syndrome
Decreased response to growth hormone stimulation test, Broad nasal tip, Cryptorchidism, Hydroceph... OMIM:609757
Lowry-Maclean Syndrome
Hypospadias, Choanal atresia, Bilateral cryptorchidism, Hydrocephalus, Low-set ears, Short nose, ... ORPHA:2409
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism ORPHA:2183
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus, Macrotia OMIM:300886
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Mixed hearing impairment, Prominent nasal bridge, Choanal atresia, Lop ear, Bilateral cryptorchid... OMIM:300472
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation, Apnea, Inspiratory stridor OMIM:600721
Paganini-Miozzo Syndrome
Lateral ventricle dilatation, Microtia, Posteriorly rotated ears, Low-set ears OMIM:301025
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... ORPHA:91348
Fg Syndrome Type 1
Broad-based gait, Hypospadias, Choanal atresia, Prominent nose, Cryptorchidism, Hydrocephalus, Cu... ORPHA:93932
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Lateral ventricle dilatation, Partial agenesis of the corpus callosum OMIM:619517
Microform Holoprosencephaly
Narrow nasal bridge, Hypoplasia of penis, Anteverted nares, Choanal atresia, Midnasal stenosis, A... ORPHA:280200
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Short colum... ORPHA:171839
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Nasal polyposis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhini... OMIM:242670
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Low-set, posteriorly rotated ears, Cryptorchidism, Bulbous nose, Wid... ORPHA:1237
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Sensorineural hearing impairment, Tubulointerstitial nephritis, Later... ORPHA:488627
Ciliary Dyskinesia, Primary, 19
Male infertility, Nasal polyposis, Situs inversus totalis, Bronchiectasis, Absent inner and outer... OMIM:614935
Giant Axonal Neuropathy 1, Autosomal Recessive
Lateral ventricle dilatation, Steppage gait OMIM:256850
Renpenning Syndrome
Hypospadias, Prominent nose, Sensorineural hearing impairment, Broad columella, Heterotaxy, Round... ORPHA:3242
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Type II lissencephaly, Ventriculomegaly OMIM:614830
Congenital Disorder Of Glycosylation, Type Iig
Hypospadias, Anteverted nares, Posteriorly rotated ears, Cryptorchidism, Wide nasal bridge, Later... OMIM:611209
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Low-set, posteriorly rotated ears, Anteverted nares, Cryptorchidism, Hydrocephalus, Short nose, M... ORPHA:2701
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Simplified g... OMIM:619302
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Inability to walk, Partial agenesis of the corpus callosum, Sensorineural hearing... ORPHA:300570
Beare-Stevenson Cutis Gyrata Syndrome
Bifid scrotum, Respiratory distress, Hypospadias, Anteverted nares, Depressed nasal bridge, Choan... OMIM:123790
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Lateral ventricle dilatation, Depressed nasal bridge, Low-set ears, Sensorineural hearing impairment OMIM:620075
Temple Syndrome
Wide nose, Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Precocious puberty... OMIM:616222
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Sensorineural hearing impairment, Dilated third ventricle, Ataxia, Abnormal cerebrospinal fluid m... ORPHA:314404
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Respiratory insufficiency, CSF lymphocytic pleiocytosis, Low-set ears, Convex nasa... OMIM:610333
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Productive cough, Situs inversus totalis, Bronchiectasis, Decreased nasal nitric oxide, Nasal con... OMIM:615434
Osteoglosphonic Dysplasia
Cryptorchidism, Anteverted nares, Choanal atresia, Protruding ear ORPHA:2645
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Depressed nasal bridge, Hydrocephalus, Wide nasal bridge, Low-set ears,... OMIM:220220
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal nasal morphology, Hydrocephalus, Polymicrogyria, Depressed nasal bridge ORPHA:83473
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Acne, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Hydrocep... ORPHA:8
Johnson Neuroectodermal Syndrome
Choanal atresia, Bulbous nose, Anosmia, Protruding ear, Microtia, Hypogonadism, Atresia of the ex... ORPHA:2316
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Depressed nasal bridge, Choanal atresia, Abnormal pinna morphology, Hydrocephalus, Upper airway o... OMIM:207410
Slc35A2-Cdg
Precocious puberty, Inability to walk, Sensorineural hearing impairment, Lateral ventricle dilata... ORPHA:356961
Noonan Syndrome 14
Posteriorly rotated ears, Prominent nasal bridge, Cryptorchidism, Lateral ventricle dilatation, P... OMIM:619745
Distal Deletion 10Q
Abnormal morphology of the vestibule of the inner ear, Ataxia, Prominent nasal bridge, Prominent ... ORPHA:96148
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bicornuate uterus OMIM:258320
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation ORPHA:208447
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Ataxia, Wide nasal bridge, Dysmetria, Athetosis, Lateral ventricle dila... ORPHA:572798
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Low-set, posteriorly rotated ears, Periventricular heterotopia, Bilater... ORPHA:434179
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly ORPHA:352682
Gabriele-De Vries Syndrome
Waddling gait, Posteriorly rotated ears, Broad nasal tip, Cryptorchidism, Lateral ventricle dilat... OMIM:617557
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Posteriorly rotated ears, Choanal atresia, Dyspnea, Wide nasal bridge, Resp... ORPHA:2759
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Anteverted nares, Hydrocephalus, Cupped ear, Lateral ventricle dilatation, ... OMIM:612863
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dandy-Walker malformation, Posteriorly rotated ears, Episodic tachypnea, Hydrocephalus, Apneic ep... ORPHA:163961
Ciliary Dyskinesia, Primary, 45
Male infertility, Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Chronic rhi... OMIM:618801
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy, Progressive cerebellar ataxia ORPHA:276183
Lissencephaly 5
Occipital encephalocele, Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Ty... OMIM:615191
Diencephalic Syndrome
Macrotia, Hydrocephalus, Long penis ORPHA:1672
Apert Syndrome
Depressed nasal bridge, Choanal atresia, Hydrocephalus, Sensorineural hearing impairment, Abnorma... ORPHA:87
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Encephalocele, Hypospadias, Choanal atresia, Hearing impairment, Posteriorly rotat... OMIM:619148
Pfeiffer Syndrome Type 2
Respiratory distress, Depressed nasal bridge, Choanal atresia, Aqueductal stenosis, Hydrocephalus... ORPHA:93259
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Inability to walk, Hydrocephalus, Pachygyria, Ataxia OMIM:618174
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Decreased response to growth... OMIM:147250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Type II lissencephaly, Pachygyria, Hydrocephalus, Simplified gyral pattern, Respiratory insuffici... OMIM:613153
Marshall-Smith Syndrome
Anteverted nares, Choanal atresia, Conductive hearing impairment, Short nose, Ventriculomegaly ORPHA:561
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Agenesis of corpus callosum, Ventr... OMIM:175700
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Neonatal respiratory distress, Hypospadias, Depressed nasal bridge, Posteriorly rotated ears, Wid... OMIM:619479
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Depressed nasal bridge, Hydrocephalus, Large earlobe, Polymicrogyria, Ventriculomegaly OMIM:602501
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Depressed nasal bridge, Choanal atresia, Posteriorly rotated ears, Prominen... OMIM:300968
Sweeney-Cox Syndrome
Choanal atresia, Uplifted earlobe, Broad nasal tip, Bilateral cryptorchidism, Underdeveloped nasa... OMIM:617746
Alexander Disease
Increased CSF protein concentration, Hydrocephalus, Ataxia, Dysmetria OMIM:203450
Gapo Syndrome
Anteverted nares, Dysmenorrhea, Depressed nasal bridge, Choanal atresia, Hearing impairment, Olig... ORPHA:2067
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Type II lissencephaly, Ventriculomegaly ORPHA:324416
Papillary Tumor Of The Pineal Region
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking ORPHA:251915
Radial Ray Hypoplasia With Choanal Atresia
Choanal stenosis, Depressed nasal bridge, Choanal atresia OMIM:179270
Spondylometaphyseal Dysplasia, Axial
Restrictive ventilatory defect, Recurrent pneumonia, Reduced sperm motility OMIM:602271
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, No... OMIM:618699
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadism OMIM:601794
Joubert Syndrome
Encephalocele, Anteverted nares, Prominent nasal bridge, Ataxia, Apnea, Situs inversus totalis, E... ORPHA:475
Craniotelencephalic Dysplasia
Low-set, posteriorly rotated ears, Hydrocephalus, Frontal encephalocele, Lissencephaly, Agenesis ... ORPHA:1528
Kleeblattschaedel
Hydrocephalus OMIM:148800
Mosaic Trisomy 1
Depressed nasal bridge, Abnormal pinna morphology, Wide nasal bridge, Lateral ventricle dilatatio... ORPHA:1692
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus, Wide nasal bridge, Low-set ears, Underdeveloped nasal alae ORPHA:1516
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Frontofacionasal Dysplasia
Encephalocele, Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Depressed nasal ridge, D... ORPHA:1791
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Cryptorchidism, Hydrocephalus, Abnormal location of ears, Agenesis of corpus callosu... OMIM:218350
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Bresek Syndrome
Convex nasal ridge, Cryptorchidism, Hydrocephalus, Protruding ear, Low-set ears, Decreased testic... ORPHA:85284
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Glutaric Acidemia I
Choreoathetosis, Hydrocephalus, Lateral ventricle dilatation OMIM:231670
2,4-Dienoyl-Coa Reductase Deficiency
Ataxia, Hydrocephalus, Increased CSF lactate, Choreoathetosis, Colpocephaly, Increased CSF lysine... OMIM:616034
Holoprosencephaly
Hypoplasia of penis, Depressed nasal ridge, Absent nares, Holoprosencephaly, Dandy-Walker malform... ORPHA:2162
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Wide nasal bridge, Protruding ear OMIM:618302
Thanatophoric Dysplasia Type 2
Encephalocele, Depressed nasal bridge, Hydrocephalus, Abnormality of neuronal migration, Respirat... ORPHA:93274
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida, Abnormality of neuronal migration ORPHA:945
Pfeiffer Syndrome
Depressed nasal bridge, Choanal atresia, Hydrocephalus, Choanal stenosis, Short nose OMIM:101600
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum ORPHA:250972
Anophthalmia Plus Syndrome
Low-set, posteriorly rotated ears, Choanal atresia, Spina bifida, Abnormal nasal morphology, Apla... ORPHA:1104
Pontocerebellar Hypoplasia, Type 7
Ataxia, Apnea, Broad nasal tip, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Choreoathetosis... OMIM:614969
Prader-Willi Syndrome Due To Translocation
Narrow nasal bridge, Respiratory distress, Hypogonadotropic hypogonadism, External genital hypopl... ORPHA:177907
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility, Situs inversus totalis, Decreased nasal nitric oxide, Abdominal situs inversus,... OMIM:619607
Pallister-Hall-Like Syndrome
Occipital encephalocele, Depressed nasal bridge, Hydrocephalus, Micropenis, Hypothalamic hamartom... OMIM:241800
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Unsteady gait, Lateral ventricle dilatation, Low-set ears, Short nose ORPHA:457279
Bamforth-Lazarus Syndrome
Bilateral choanal atresia OMIM:241850
Weaver Syndrome
Depressed nasal bridge, Cryptorchidism, Hydrocele testis, Lateral ventricle dilatation, Macrotia,... OMIM:277590
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Spastic gait, Difficulty walking ORPHA:401815
Bamforth-Lazarus Syndrome
Choanal atresia ORPHA:1226
Acrocraniofacial Dysostosis
Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Choanal atresia, Abn... ORPHA:949
Temple Syndrome
Precocious puberty, Cryptorchidism, Hydrocephalus, Decreased response to growth hormone stimulati... ORPHA:254516
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Marshall-Smith Syndrome
Apnea, Bilateral cryptorchidism, Choanal stenosis, Aspiration pneumonia, Pachygyria, Agenesis of ... OMIM:602535
Choanal Atresia And Lymphedema
Choanal atresia OMIM:613611
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Intellectual Developmental Disorder, X-Linked 30
Anteverted nares, Prominent nasal bridge, Hydrocephalus, Short nose, Macrotia OMIM:300558
Pfeiffer Syndrome Type 3
Respiratory distress, Depressed nasal bridge, Choanal atresia, Aqueductal stenosis, Low-set ears,... ORPHA:93260
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Posteriorly rotated ears, Choanal atresia, Depressed nasal ridge, Low-set ears, Ethmoidal encepha... OMIM:607597
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormal ovarian morphology, Choanal stenosis, Conductive hearing impairment,... ORPHA:95699
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Aspiration, Lateral ventricle dilatation, Pachygyria, Agyria ORPHA:2148
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation, Cupped ear OMIM:618914
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Abnormal pinna morphology, Prominent nasal bridge, Choanal atresia, Sensorineural hearing impairm... ORPHA:52055
Supernumerary Nostril
Supernumerary naris, Choanal atresia ORPHA:141096
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Gait disturbance, Type II lissencephaly, Ventriculomegaly ORPHA:272
Apert Syndrome
Depressed nasal bridge, Choanal atresia, Acne, Cryptorchidism, Hydrocephalus, Choanal stenosis, C... OMIM:101200
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus, Wide nasal base, Wide nasal bridge OMIM:616521
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Posteriorly rotated ears, Hydrocephalus, Bulbous nose, Sensorineural... OMIM:615219
Cerebrofacioarticular Syndrome
Hypospadias, Ataxia, Bilateral choanal atresia/stenosis, Dysplastic corpus callosum, Conductive h... ORPHA:314679
Pallister-Hall Syndrome
Anteverted nares, Decreased response to growth hormone stimulation test, Depressed nasal bridge, ... OMIM:146510
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Polymicrogyria, Anteverted nares, Protruding ear OMIM:618731
Thanatophoric Dysplasia
Depressed nasal bridge, Hydrocephalus, Respiratory insufficiency, Gray matter heterotopia, Low-se... ORPHA:2655
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Recurrent otitis media, Male infertility OMIM:618948
Weiss-Kruszka Syndrome
Anteverted nares, Hearing impairment, Cupped ear, Overfolded helix, Protruding ear, Colpocephaly,... OMIM:618619
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Anteverted nares, Depressed nasal bridge, Prominent nose, Hydrocephalus, Bulbous nose, Wide nasal... ORPHA:2180
Opitz-Kaveggia Syndrome
Hypospadias, Choanal atresia, Prominent nose, Cryptorchidism, Hydrocephalus, Partial agenesis of ... OMIM:305450
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Choanal atresia, Posteriorly rotated ears, Underdeveloped nasal alae, Cryptorchidism... ORPHA:163979
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus, Steppage gait, Inability to walk by childhood/adolescence, Sensorineural hearing i... ORPHA:99947
Blepharocheilodontic Syndrome 1
Neural tube defect, Choanal atresia OMIM:119580
Gorlin Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Abnormality of t... ORPHA:377
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Ataxia, Depressed nasal ridge, Respiratory failure, Conductive heari... ORPHA:1861
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Depressed nasal bridge, Ataxia, Posteriorly rotated ears, Periventricular heterotopia, Hydrocepha... OMIM:619833
Lead Poisoning
Decreased female libido, Skin rash, Abnormality of the menstrual cycle, Asthma, Abnormal respirat... ORPHA:330015
Lenz-Majewski Hyperostotic Dwarfism
Hypospadias, Anterior pituitary hypoplasia, Choanal atresia, Cryptorchidism, Dysplastic corpus ca... OMIM:151050
Alkuraya-Kucinskas Syndrome
Small scrotum, Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Hydrocephalus,... OMIM:617822
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Pericarditis, Chilblains, Lateral ventricle dilatation, Micropenis OMIM:619487
Rhombencephalosynapsis
Low-set, posteriorly rotated ears, Anteverted nares, Ataxia, Hydrocephalus, Abnormality of the ut... ORPHA:59315
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
Chiari Malformation Type Ii
Ataxia, Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Gray matter heterotop... OMIM:207950
Joubert Syndrome With Renal Defect
Encephalocele, Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Ataxi... ORPHA:220497
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Posteriorly rotated ears, Choanal atresia, Hashimoto thyroiditis, Reduced forced expiratory volum... OMIM:613385
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Gait disturbance, Low... ORPHA:1812
Hogue-Janssen Syndrome 2
Anteverted nares, Inability to walk, Hydrocephalus, Gait ataxia, Agenesis of corpus callosum, Ven... OMIM:616362
Den Hoed-De Boer-Voisin Syndrome
Posteriorly rotated ears, Ataxia, Inability to walk, Lateral ventricle dilatation, Ventriculomegaly OMIM:619229
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly, Hearing impairment ORPHA:858
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Anteverted nares, Choanal atresia, Overfolded helix, Microtia, Atresia of t... OMIM:610536
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum, Wide nasal bridge ORPHA:380
Coccidioidomycosis
Respiratory distress, Morbilliform rash, Cough, Abnormality of the male genitalia, Abnormality of... ORPHA:228123
6P22 Microdeletion Syndrome
Hydrocephalus, Overfolded helix, Low-set ears, Hearing impairment ORPHA:251046
Walker-Warburg Syndrome
Hypoplasia of penis, Posteriorly rotated ears, Abnormal cortical gyration, Pachygyria, Cryptorchi... ORPHA:899
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Anteverted nares, Cryptorchidism, Hydrocephalus, Sensorineural hearing impairment, Lissencephaly,... OMIM:612938
Alexander Disease Type I
Hydrocephalus, Ataxia, Abnormal thalamic MRI signal intensity ORPHA:363717
Trisomy 1Q
Wide nose, Small scrotum, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Low-set ears, Am... ORPHA:261344
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly OMIM:304100
Chromosome 9P Deletion Syndrome
Depressed nasal bridge, Hypospadias, Anteverted nares, Choanal atresia, Posteriorly rotated ears,... OMIM:158170
Hydrolethalus
Low-set, posteriorly rotated ears, Cryptorchidism, Hydrocephalus, Anencephaly, Abnormality of the... ORPHA:2189
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Dworschak-Punetha Neurodevelopmental Syndrome
Depressed nasal bridge, Dysplastic corpus callosum, Cupped ear, Large earlobe, Colpocephaly, Agen... OMIM:619955
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Decreased nasal nitric oxide, Chronic otitis media, Chronic sinusitis, Re... OMIM:619608
Spermatogenic Failure 14
Abnormal prolactin level, Azoospermia, Elevated circulating follicle stimulating hormone level, M... OMIM:615842
Diabetic Embryopathy
Low-set, posteriorly rotated ears, Cryptorchidism, Hydrocephalus, Spinal dysraphism, Microtia, Mi... ORPHA:1926
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypospadias, Wide nasal bridge, Conjunctivitis, Atresia of the external auditory canal, Conductiv... OMIM:106260
Emanuel Syndrome
Hearing impairment, Cryptorchidism, Hydrocephalus, Macrotia, Hypogonadism, Infertility, Low-set e... ORPHA:96170
Autosomal Recessive Spastic Paraplegia Type 11
Ataxia, Inability to walk, Lateral ventricle dilatation, Gait disturbance, Hypothalamic atrophy ORPHA:2822
Bosma Arhinia Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Hypospadias, Choanal atresia, Absent tragus, Abnormal pinna morpho... OMIM:603457
Emanuel Syndrome
Chronic oral candidiasis, Hearing impairment, Cryptorchidism, Hydrocephalus, Macrotia, Recurrent ... OMIM:609029
Genitopalatocardiac Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Male pseudohermaphroditism, Wide nasal bridge, Low-se... ORPHA:2075
Tenorio Syndrome
Wide nose, Anteverted nares, Apnea, Hydrocephalus, Recurrent pneumonia, Keratoconjunctivitis sicc... OMIM:616260
Myopathy, Centronuclear, X-Linked
Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Cryptorchidism... OMIM:310400
Keppen-Lubinsky Syndrome
Narrow nasal bridge, Underdeveloped nasal alae, Recurrent pneumonia, Upper airway obstruction, Re... OMIM:614098
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Agenesis of c... ORPHA:77298
Axenfeld-Rieger Syndrome, Type 2
Hypospadias, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Hearing impairment OMIM:601499
Desmosterolosis
Low-set, posteriorly rotated ears, Depressed nasal bridge, Abnormal cortical gyration, Abnormalit... ORPHA:35107
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Ataxia, Decreased fertility in females, Crypto... ORPHA:79239
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:614120
Joubert Syndrome With Ocular Defect
Encephalocele, Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Ataxi... ORPHA:220493
Intellectual Developmental Disorder, Autosomal Dominant 65
Anteverted nares, Ataxia, Posteriorly rotated ears, Bulbous nose, Wide nasal bridge, Noncommunica... OMIM:619320
Autosomal Dominant Popliteal Pterygium Syndrome
Bifid scrotum, Small scrotum, Choanal atresia, Cryptorchidism, Hypoplastic labia majora, Ambiguou... ORPHA:1300
Hallermann-Streiff Syndrome
Choanal atresia, Underdeveloped nasal alae, Cryptorchidism, Respiratory insufficiency, Uveitis, A... ORPHA:2108
Whipple Disease
Myositis, Pericarditis, Ataxia, Myocarditis, Hydrocephalus, Respiratory insufficiency, Uveitis, A... ORPHA:3452
Joubert Syndrome With Oculorenal Defect
Encephalocele, Low-set, posteriorly rotated ears, Apnea, Anteverted nares, Prominent nasal bridge... ORPHA:2318
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Low-set, posteriorly rotated ears, Situs inversus totalis, Hydrocephalus, Meningoc... ORPHA:1908
Pettigrew Syndrome
Prominent nose, Aqueductal stenosis, Hydrocephalus, Sensorineural hearing impairment, Gait ataxia... OMIM:304340
Helsmoortel-Van Der Aa Syndrome
Anteverted nares, Decreased response to growth hormone stimulation test, Posteriorly rotated ears... OMIM:615873
Oculocerebrocutaneous Syndrome
External ear malformation, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Polymicrogyr... ORPHA:1647
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Depressed nasal bridge, Prominent nasal bridge, Posteriorly rotated ears, Cryptorchidism, Hydroce... OMIM:619951
Laurin-Sandrow Syndrome
Prominent nose, Underdeveloped nasal alae, Cryptorchidism, Hydrocephalus, Abnormality of the nose... ORPHA:2378
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Hydrocephalus, Unsteady gait, Agenesis of corpus callosum OMIM:617542
Postaxial Acrofacial Dysostosis
Choanal atresia, Cryptorchidism, Cupped ear, Low-set ears, Conductive hearing impairment, Micropenis OMIM:263750
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Anteverted nares, Hypospadias, Choanal atresia, Posteriorly rotated ears, Abnormal pinna morpholo... OMIM:616975
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia, Hydrocephalus, Hydranencephaly, Dandy-Walker malformation, Agenesis of corpus callosum,... OMIM:225790
Raine Syndrome
Mixed hearing impairment, Depressed nasal bridge, Choanal atresia, Posteriorly rotated ears, Abno... OMIM:259775
Ritscher-Schinzel Syndrome 1
Depressed nasal bridge, Hypospadias, Decreased response to growth hormone stimulation test, Hydro... OMIM:220210
Trisomy 18
Low-set, posteriorly rotated ears, Choanal atresia, Spina bifida, Cryptorchidism, Anencephaly, Po... ORPHA:3380
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Inability to walk, Hydrocephalus OMIM:613155
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Mixed hearing impairment, Depressed nasal bridge, Choanal atresia, Underdeveloped nasal alae, Pro... OMIM:620186
Triploidy
Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalu... ORPHA:3376
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Wide nose, Hypospadias, Anteverted nares, Depressed nasal bridge, Posteriorly rota... OMIM:257300
Methimazole Embryofetopathy
Hypospadias, Choanal atresia ORPHA:1923
Kabuki Syndrome 1
Posteriorly rotated ears, Premature thelarche, Cryptorchidism, Hydrocephalus, Wide nasal bridge, ... OMIM:147920
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Anteverted nares, Abnormal cortical gyration, Prominent nose, Cryptorchidism, Hydrocephalus, Part... OMIM:210710
Fanconi Anemia
Hypospadias, Choanal atresia, Spina bifida, Abnormal preputium morphology, External ear malformat... ORPHA:84
Metatropic Dysplasia
Low-set, posteriorly rotated ears, Hydrocephalus, Depressed nasal bridge ORPHA:2635
Monosomy 9P
Anteverted nares, Hypospadias, Depressed nasal bridge, Choanal atresia, Cryptorchidism, Abnormal ... ORPHA:261112
Scalp-Ear-Nipple Syndrome
Anteverted nares, Depressed nasal bridge, Underdeveloped antitragus, Posteriorly rotated ears, An... OMIM:181270
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Choanal atresia, Epispadias,... ORPHA:2658
16Q24.3 Microdeletion Syndrome
Anteverted nares, Periventricular heterotopia, Cryptorchidism, Protruding ear, Colpocephaly, Chro... ORPHA:261250
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Anteverted nares, Depressed nasal bridge, Seborrheic dermatitis, Overfolded helix, Lateral ventri... OMIM:300868
Intellectual Developmental Disorder, Autosomal Dominant 70
Broad nasal tip, Hydrocephalus, Low hanging columella, Wide nasal bridge, Hearing impairment OMIM:620157
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Decrease... ORPHA:370959
Infantile Sialic Acid Storage Disease
Hydrocephalus, Anteverted nares OMIM:269920
Cornelia De Lange Syndrome 1
Hypospadias, Choanal atresia, Depressed nasal bridge, Anteverted nares, Pneumonia, Cryptorchidism... OMIM:122470
Charge Syndrome
Bifid scrotum, Aqueductal stenosis, Hypoplasia of the semicircular canal, Holoprosencephaly, Micr... ORPHA:138
Optic Pathway Glioma
Precocious puberty, Hydrocephalus ORPHA:2086
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus, Wide nasal bridge, Hydrocele testis, Short columella, Microtia, Low-set ears, Shor... OMIM:613603
Hec Syndrome
Communicating hydrocephalus, Vaginal hydrocele, Respiratory insufficiency ORPHA:2119
22Q11.2 Deletion Syndrome
Abnormality of the uterus, Conductive hearing impairment, Chronic otitis media, Small earlobe, Hy... ORPHA:567
3C Syndrome
Hypoplasia of penis, Hypospadias, Depressed nasal bridge, Hydrocephalus, Wide nasal bridge, Abnor... ORPHA:7
Endocrine-Cerebroosteodysplasia
Small scrotum, Hypospadias, Focal polymicrogyria, Cryptorchidism, Hydrocephalus, Wide nasal bridg... OMIM:612651
B4Galt1-Cdg
Inflammatory abnormality of the skin, Hydrocephalus, Wide nasal bridge, Low-set ears, Dandy-Walke... ORPHA:79332
Osteoglophonic Dysplasia
Respiratory distress, Anteverted nares, Hypospadias, Depressed nasal bridge, Choanal atresia, Cry... OMIM:166250
Metaphyseal Chondrodysplasia, Jansen Type
Waddling gait, Choanal stenosis, Choanal atresia, Hearing impairment OMIM:156400
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Gait disturbance, Holoprosencephaly ORPHA:588
Antley-Bixler Syndrome
Low-set, posteriorly rotated ears, Short nose, Anteverted nares, Choanal atresia ORPHA:83
Holoprosencephaly 14
Anteverted nares, Proboscis, Alobar holoprosencephaly, Aqueductal stenosis, Periventricular heter... OMIM:619895
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration, Hearing impairment OMIM:245200
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Depressed nasal bridge, Hydrocephalus, Irregular menstruatio... OMIM:616482
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Hydrocephalus, Sensorineural hearing impairment, Agenesis of... OMIM:109120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Respiratory insufficiency due to muscle weakness, Hydrocephalus, Sensorineural hearing impairment... OMIM:615249
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus, Gait disturbance ORPHA:2181
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Colpocephaly, Low-set ears, Polymicrogyria, Agenesis of corpus callosum, Ventricul... OMIM:620156
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus, Polymicrogyria, Type II lissencephaly OMIM:615181
Radial Aplasia, X-Linked
Hydrocephalus, Penile hypospadias OMIM:312190
Coach Syndrome 2
Hydrocephalus, Apneic episodes in infancy, Agenesis of corpus callosum OMIM:619111
Kilquist Syndrome
Increased CSF albumin concentration, Choanal atresia, Low-set ears, Bilateral sensorineural heari... OMIM:619080
Treacher-Collins Syndrome
Encephalocele, Hypoplasia of penis, Small scrotum, Choanal atresia, Cryptorchidism, Wide nasal br... ORPHA:861
Desmosterolosis
Hypoplastic nasal bridge, Anteverted nares, Posteriorly rotated ears, Hydrocephalus, Ambiguous ge... OMIM:602398
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Low-set ears, Hydrocephalus, Depressed nasal ridge, Short nose OMIM:300863
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Choanal atresia, Absent external genitalia, Hydrocephalus, Sing... OMIM:273395
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Recurrent pneumonia, Lateral ventricle dilatation OMIM:612301
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Periventricular heterotopia, Bulbous nose, Hydrocephalus, Difficulty walking, Dandy-Walke... OMIM:618476
L1 Syndrome
Aqueductal stenosis, Hydrocephalus, Gait disturbance ORPHA:275543
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus, Gait disturbance OMIM:236690
Thanatophoric Dysplasia Type 1
Depressed nasal bridge, Hydrocephalus, Respiratory insufficiency, Gray matter heterotopia, Ventri... ORPHA:1860
Meier-Gorlin Syndrome 7
Hypospadias, Choanal atresia, Hearing impairment, Cryptorchidism, Sensorineural hearing impairmen... OMIM:617063
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the nose, Cryptorchidism, Hydrocephalus, Microtia, Agenesis of corpu... ORPHA:3301
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Posteriorly rotated ears, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Respir... ORPHA:1865
Diamond-Blackfan Anemia 10
Respiratory distress, Posteriorly rotated ears, Choanal atresia, Microtia, Atresia of the externa... OMIM:613309
Bilateral Perisylvian Polymicrogyria
Ectopic posterior pituitary, Apnea, Choanal atresia, Perisylvian predominant thick cortex pachygy... ORPHA:98889
Chromosome 1P36 Deletion Syndrome, Distal
Hypospadias, Abnormal external genitalia, Depressed nasal bridge, Asymmetry of the ears, Posterio... OMIM:607872
Multiple Sulfatase Deficiency
Ataxia, Anteverted nares, Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly, H... OMIM:272200
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Wide nose, Spina bifida occulta, Choanal atresia, Low-set ears OMIM:619227
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation OMIM:607485
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Genitourinary And/Or Brain Malformation Syndrome
Aplasia of the nasal bone, Streak ovary, Hypospadias, Cryptorchidism, Dysplastic corpus callosum,... OMIM:618820
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly ORPHA:2182
Nijmegen Breakage Syndrome
Sinusitis, Premature ovarian insufficiency, Choanal atresia, Long nose, Recurrent pneumonia, Bron... OMIM:251260
Albers-Schönberg Osteopetrosis
Osteomyelitis, Mandibular osteomyelitis, Hydrocephalus, Osteoarthritis, Arthritis, Hearing impair... ORPHA:53
Diamond-Blackfan Anemia 7
Choanal atresia, Atresia of the external auditory canal, Esophagitis, Recurrent otitis media, Hea... OMIM:612562
Plasminogen Deficiency, Type I
Hydrocephalus, Recurrent upper respiratory tract infections, Conjunctivitis, Periodontitis, Dandy... OMIM:217090
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ambiguous genitalia, Lateral ventricle dilatation, Pachygyria, Micropenis OMIM:263520
Joubert Syndrome 2
Central apnea, Enlarged fossa interpeduncularis, Encephalocele, Depressed nasal bridge, Ataxia, E... OMIM:608091
Trisomy 17P
Wide nose, Hypoplasia of penis, Prominent nose, Hydrocephalus, Low-set ears, Thick nasal alae, He... ORPHA:261290
Pallister-Hall Syndrome
Small scrotum, Gonadotropin deficiency, Depressed nasal ridge, Holoprosencephaly, Micropenis, Apl... ORPHA:672
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Abnormal nasopharynx morphology, Hypogonadotropic hypogonadism, Decreased response to growth horm... OMIM:129900
Complete Androgen Insensitivity Syndrome
Male infertility, Acne, Abnormal uterine cervix morphology, Elevated circulating luteinizing horm... ORPHA:99429
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Smith-Lemli-Opitz Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Clitoral hypertrophy, Hypospadias, Choana... ORPHA:818
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Rectovaginal fistula, Choanal atresia, Low-set ears OMIM:270420
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Abnormal nasal bone morphology, Neoplasm... ORPHA:54595
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Subcortical heterotopia, Agyria, Type II lissencephaly, Pachygyria, Hydrocephalus,... OMIM:614643
H Syndrome
Psoriasiform dermatitis, Hearing impairment, Recurrent pharyngitis, Hydrocephalus, Bronchiectasis... ORPHA:168569
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Low-set, posteriorly rotated ears, Choanal atresia, Cholangitis, Hepatitis, Thyroiditis, Chronic ... ORPHA:228426
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly, Gait ataxia OMIM:616355
Monosomy 18Q
Depressed nasal bridge, Prominent nose, Bilateral cryptorchidism, Hydrocephalus, Bulbous nose, Se... ORPHA:1600
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Achondroplasia
Anteverted nares, Depressed nasal bridge, Hydrocephalus, Hypoxemia, Restrictive ventilatory defec... ORPHA:15
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Polymicrogyria, Depressed nasal bridge, Ventriculomegaly ORPHA:60040
Fanconi Anemia, Complementation Group B
Hypergonadotropic hypogonadism, Hydrocephalus, Overfolded helix, Hypogonadism, Low-set ears, Micr... OMIM:300514
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Male infertility, Clitoral hypertrophy, Hypospadias, Elevated ... ORPHA:90797
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Crouzon Syndrome
Keratitis, Hydrocephalus, Conjunctivitis, Atresia of the external auditory canal, Conductive hear... OMIM:123500
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Depressed nasal bridge, Hydrocephalus, Tubulointerstitial nephritis, Low-set ears, Mild hearing i... ORPHA:459061
Marcus-Gunn Syndrome
Choanal atresia, Abnormality of the sense of smell ORPHA:91412
Joubert Syndrome 14
Encephalocele, Ataxia, Prominent nasal bridge, Posteriorly rotated ears, Hydrocephalus, Meningoce... OMIM:614424
Orofaciodigital Syndrome Type 4
Wide nose, Microtia, third degree, Monorchism, Choanal atresia, Posteriorly rotated ears, Absent ... ORPHA:2753
Congenital Tufting Enteropathy
Arthritis, Punctate keratitis, Choanal atresia ORPHA:92050
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Low-set ears, Hydrocephalus, Depressed nasal ridge, Short nose ORPHA:163966
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Dilated fourth ventricle, Respiratory distress, Low-set, posteriorly rotated ears, Depressed nasa... ORPHA:480880
Holoprosencephaly 9
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Anterior pituitary... OMIM:610829
Pseudotrisomy 13 Syndrome
Encephalocele, Posteriorly rotated ears, Cryptorchidism, Hydrocephalus, Bicornuate uterus, Holopr... OMIM:264480
Mirage Syndrome
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Hydrocephalus, Microphallus, Aspirat... OMIM:617053
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormality of the male genitalia, Hydrocephalus, Wide nasal bridge, Prominent nose OMIM:614886
Acrodysostosis 1 With Or Without Hormone Resistance
Anteverted nares, Depressed nasal bridge, Broad nasal tip, Cryptorchidism, Hydrocephalus, Irregul... OMIM:101800
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Abnormal pinna morphology, Hydrocephalus, Small pituitary gland, Severe sensorineural hearing imp... OMIM:614195
Rabin-Pappas Syndrome
Hypoventilation, Broad nasal tip, Conductive hearing impairment, Hydrocephalus, Sensorineural hea... OMIM:620155
Distal Triplication 15Q
Abnormal external genitalia, Hydrocephalus, Cupped ear, Sensorineural hearing impairment, Hydroce... ORPHA:314588
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum OMIM:307000
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Posteriorly rotated ears, Broad nasal tip, Hydrocephalus, Sensorineural hearing impairment, Wide ... OMIM:239300
Holoprosencephaly 7
Flat nasal alae, Alobar holoprosencephaly, Hydrocephalus, Partial agenesis of the corpus callosum... OMIM:610828
Craniofacioskeletal Syndrome
Posteriorly rotated ears, Hypospadias, Choanal atresia, Cryptorchidism, Microtia OMIM:300712
Methylcobalamin Deficiency Type Cble
Lethargy, Hydrocephalus, Ventriculomegaly, Hearing impairment ORPHA:2169
Chromosome 17P13.1 Deletion Syndrome
Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Spina bifida, Posteriorly rotat... OMIM:613776
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Respiratory failure, Respiratory insufficiency OMIM:276950
Cerebrooculonasal Syndrome
Encephalocele, Anteverted nares, Prominent nasal bridge, Proboscis, Posteriorly rotated ears, Hyd... OMIM:605627
Nephronophthisis 18
Tubulointerstitial nephritis, Hydrocephalus OMIM:615862
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Anteverted nares, Prominent nasal bridge, Ataxia, Apnea, Hydrocephalus, ... ORPHA:1454
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus, Gait disturbance OMIM:613330
Esophageal Atresia
Respiratory distress, Abnormal external genitalia, Choanal atresia, Episodic respiratory distress... ORPHA:1199
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Hydrocephalus, Pituitar... ORPHA:91350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Agyria, Type II lissencephaly, Pachygyria, Cryptorchidism, Hydrocephalus... OMIM:236670
Halperin-Birk Syndrome
Hearing impairment, Inability to walk, Colpocephaly, Aspiration, Agenesis of corpus callosum, Ven... OMIM:618651
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Pachygyria, Polymicrogyria, Ventriculomegaly OMIM:603387
Arachnoiditis
Hydrocephalus, Tinnitus, Hearing impairment ORPHA:137817
7Q11.23 Microduplication Syndrome
Low-set, posteriorly rotated ears, Hypospadias, Hearing impairment, Broad nasal tip, Cryptorchidi... ORPHA:96121
Eec Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Choanal atresia, Keratitis, E... ORPHA:1896
Orofaciodigital Syndrome Type 1
Ataxia, Choanal atresia, Underdeveloped nasal alae, Wide nasal bridge, Chronic otitis media, Agen... ORPHA:2750
Cornelia De Lange Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Choanal atresia, Anteverted ... ORPHA:199
Lateral Meningocele Syndrome
Posteriorly rotated ears, Abnormality of the middle ear ossicles, Cryptorchidism, Hydrocephalus, ... OMIM:130720
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Depressed nasal bridge, Dysplastic corpus callosum, Emphysema, Wide nasal bridge, Simplified gyra... ORPHA:500150
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Wide nose, Long nose ORPHA:2184
Tetrasomy 5P
Respiratory distress, Anteverted nares, Posteriorly rotated ears, Hydrocephalus, Wide nasal bridg... ORPHA:3309
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Lateral ventricle dilatation, Overhanging nasal tip, Hearing impairment OMIM:619869
Duane-Radial Ray Syndrome
Abnormal nasopharynx morphology, Choanal atresia, Sensorineural hearing impairment, Choanal steno... OMIM:607323
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Abnormal nasopharynx morphology, Hypogonadotropic hypogonadism, Decreased response to growth horm... OMIM:604292
Peho Syndrome
Anteverted nares, External ear malformation, Hydrocephalus, Short nose, Macrotia, Ventriculomegaly ORPHA:2836
Chromosome 6Pter-P24 Deletion Syndrome
Depressed nasal bridge, Posteriorly rotated ears, Hydrocephalus, Sensorineural hearing impairment... OMIM:612582
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Hypospadias, Ataxia, Narrow nasal ridge, Cryptorchidism, Inability to walk, Colpocephaly, Low-set... OMIM:620083
Diets-Jongmans Syndrome
Hypospadias, Hearing impairment, Broad nasal tip, Cryptorchidism, Heterotaxy, Long ear, Low hangi... OMIM:618846
Townes-Brocks Syndrome 1
Bifid scrotum, Overfolding of the superior helices, Rectoperineal fistula, Hypospadias, Choanal a... OMIM:107480
Griscelli Syndrome
Encephalocele, Hydrocephalus, Ataxia, Hepatitis ORPHA:381
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Skin rash, Pneumonia, Decreased response to growth hormone... ORPHA:1855
Developmental And Epileptic Encephalopathy 49
Prominent nose, Dysplastic corpus callosum, Hydrocephalus, Macrotia, Dandy-Walker malformation, V... OMIM:617281
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Abnormal cortical gyration, Ventriculomegaly, Inflammation of the large intestine OMIM:614576
Pelvis-Shoulder Dysplasia
Waddling gait, Hydranencephaly, Abnormal pinna morphology, Spina bifida, Hydrocephalus, Microtia,... ORPHA:2839
Meningioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Ataxia, Reduced circulating prolactin co... ORPHA:2495
Cutis Laxa, Autosomal Recessive, Type Iib
Narrow nasal ridge, Bulbous nose, Hydrocephalus, Protruding ear, Agenesis of corpus callosum OMIM:612940
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Respiratory insu... OMIM:617260
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Hb Bart'S Hydrops Fetalis
Hydrocephalus, Pericarditis ORPHA:163596
Lhermitte-Duclos Disease
Hydrocephalus, Polymicrogyria, Ataxia, Ovarian neoplasm ORPHA:65285
Osteopetrosis, Autosomal Recessive 2
Chronic rhinitis due to narrow nasal airway, Hydrocephalus, Osteomyelitis, Mandibular osteomyelitis OMIM:259710
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly OMIM:615630
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Posteriorly rotated ears, Long nose, Bulbous nose, Partial agenesis of the corpus callosum, Colpo... OMIM:620113
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Hydrocephalus, Bulbous nose, Sensorineural hearing impairment, Wide nasal bridge,... ORPHA:250989
Limb Body Wall Complex
Encephalocele, Depressed nasal bridge, Choanal atresia, Spina bifida, Hydrocephalus, Myelomeningo... ORPHA:2369
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Elevated circulating... ORPHA:90793
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Respiratory failure, Polymicrogyria, Agyria, Ventriculomegaly OMIM:616538
Spondylocostal Dysostosis 4, Autosomal Recessive
Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced forced vital capa... OMIM:613686
Aase-Smith Syndrome I
Hydrocephalus, Abnormal pinna morphology, Dandy-Walker malformation OMIM:147800
Fraser Syndrome 3
Wide nose, Hypoplasia of penis, Small scrotum, Hydrocephalus, Low-set ears, Convex nasal ridge, S... OMIM:617667
Mucopolysaccharidosis Type 1
Sinusitis, Depressed nasal bridge, Apnea, Abnormal nasal morphology, Hydrocephalus, Sensorineural... ORPHA:579
Jacobsen Syndrome
Hypospadias, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Clitoral hy... OMIM:147791
Coffin-Siris Syndrome 1
Hypospadias, Choanal atresia, Depressed nasal bridge, Broad nasal tip, Abnormal pinna morphology,... OMIM:135900
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Cryptorchidism, Sensorineural hearing impairment, Macrogyria, Athetosis, Colpocephal... OMIM:614866
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Hydrocephalus, Hypoplasia of the uterus, Colpocephaly, Chordee, Micropeni... OMIM:309801
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Cryptorchidis... ORPHA:2166
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Respiratory distress, Depressed nasal bridge, Anteverted nares, Wide... OMIM:618188
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Depressed nasal bridge, Hydrocephalus, Anencephaly, Low-set ears, Occipital meningocele, Micropen... OMIM:616546
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Agyria, Hydrocephalus, Respiratory insufficiency, Lissencephaly, Holoprosencephaly... OMIM:253800
Dextrocardia
Situs inversus totalis, Abnormality of abdominal situs, Hydrocephalus, Abnormal reproductive syst... ORPHA:1666
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Fraser Syndrome 1
Cleft ala nasi, Choanal stenosis, Conductive hearing impairment, Micropenis, Hypoplastic superior... OMIM:219000
Double Outlet Right Ventricle
Abnormality of cartilage of external ear, Heterotaxy, Tachypnea, Depressed nasal bridge ORPHA:3426
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Ataxia, Apnea, Hydrocephalus, Gait disturbance, Lethargy, Ventriculomegaly ORPHA:395
Distal 22Q11.2 Microdeletion Syndrome
Prominent nasal bridge, Choanal atresia, Underdeveloped nasal alae, Sensorineural hearing impairm... ORPHA:261330
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 1
Choanal atresia OMIM:113700
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Small scrotum, Choanal stenosis, Conductive hearing impairment... OMIM:201750
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Multiple Sulfatase Deficiency
Hydrocephalus, Anteverted nares, Depressed nasal bridge, Sensorineural hearing impairment ORPHA:585
Proboscis Lateralis
Choanal atresia, Proboscis, External genital hypoplasia, Single naris, Holoprosencephaly, Ventric... ORPHA:141099
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:613001
Medulloblastoma
Ataxia, Hydrocephalus, Dysmetria, Progressive cerebellar ataxia, Bilateral sensorineural hearing ... ORPHA:616
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Anenc... OMIM:615287
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Uplifted earlobe, Webbed penis, Micropenis, Agenesis of corpus callosum, Hypospadi... ORPHA:261537
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Depressed nasal bridge, Choanal atresia, Sensorineural hearing impairment, Hepatitis, Low-set ears OMIM:610199
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Treacher Collins Syndrome 2
Choanal atresia, Fusion of middle ear ossicles, Anotia, Microtia, Choanal stenosis, Conductive he... OMIM:613717
Developmental And Epileptic Encephalopathy 31B
Low-set ears, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:620352
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Depressed nasal bridge, Posteriorly rotated ears, Long nose, Hydrocephalus, Low-set ears, Short nose OMIM:618590
Proteus-Like Syndrome
Communicating hydrocephalus, Hydrocephalus, Anteverted nares, Polycystic ovaries ORPHA:2969
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Posteriorly rotated ears, Narrow nasal ridge, Aqueductal stenosis, Cryptorchidism, Hydrocephalus,... OMIM:619512
Meckel Syndrome
Encephalocele, Low-set, posteriorly rotated ears, True hermaphroditism, Situs inversus totalis, C... ORPHA:564
Treacher Collins Syndrome 1
Choanal atresia, Cryptorchidism, Microtia, Atresia of the external auditory canal, Conductive hea... OMIM:154500
Lacrimoauriculodentodigital Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Choanal atresia, Cryptorchidism, Sensorineur... ORPHA:2363
Aymé-Gripp Syndrome
Pericarditis, Depressed nasal bridge, Posteriorly rotated ears, Cryptorchidism, Hydrocephalus, Se... ORPHA:1272
Tetrasomy 15Q26
Low-set ears, Hydrocephalus, Cupped ear, Dandy-Walker malformation OMIM:614846
Congenital Disorder Of Glycosylation, Type Iim
Vesicovaginal fistula, Lateral ventricle dilatation, Wide nasal bridge OMIM:300896
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Episcleritis, Choanal atresia, Eczema, Keratitis, Cryptorchidism, Cheilitis, Uveitis, Scleritis, ... ORPHA:2273
Hemangioblastoma
Hydrocephalus ORPHA:252054
Muenke Syndrome
Hydrocephalus, Sensorineural hearing impairment ORPHA:53271
Acrofacial Dysostosis, Cincinnati Type
Microtia, Macrotia, Anotia, Choanal atresia OMIM:616462
Koolen-De Vries Syndrome Due To A Point Mutation
Decreased response to growth hormone stimulation test, Pineal cyst, Protruding ear, Thick nasal a... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Pineal cyst, Protruding ear, Thick nasal a... ORPHA:363958
Fanconi Anemia, Complementation Group I
Conductive hearing impairment, Colpocephaly, Agenesis of corpus callosum, Decreased response to g... OMIM:609053
Vacterl With Hydrocephalus
Microtia, third degree, Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Anotia,... ORPHA:3412
Congenital Sialidosis Type 2
Ataxia, Hydrocephalus, Dysmetria, Low-set ears, Hearing impairment ORPHA:93400
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Hypospadias, Anteverted nares, Narrow nasal tip, Cryptorchidism, Wide nasal bridge, Colpocephaly,... ORPHA:477993
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Hydrocephalus, Ventriculomegaly OMIM:219730
Dubowitz Syndrome
Low-set, posteriorly rotated ears, Hypospadias, Depressed nasal bridge, Eczema, Cryptorchidism, H... ORPHA:235
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation OMIM:611134
Neurooculorenal Syndrome
Ectopic posterior pituitary, Mixed hearing impairment, Aqueductal stenosis, Cryptorchidism, Hydro... OMIM:620305
Cryptococcosis
Respiratory distress, Osteomyelitis, Pneumonia, Dyspnea, Hydrocephalus, Peritonitis, Cough, Pleur... ORPHA:1546
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Anteverted nares, Apnea, Posteriorly rotated ears, Cryptorchidism, P... ORPHA:2462
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Prominent nasal bridge, Narrow nasal ridge, Hydrocephalus, Keratoc... OMIM:616914
Trisomy 8P
Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Cryptorchidism, Hydrocephalus... ORPHA:264450
Neonatal Lupus Erythematosus
Skin rash, Hydrocephalus, Malar rash, Maculopapular exanthema ORPHA:398124
Thanatophoric Dysplasia, Type I
Neonatal respiratory distress, Gray matter heterotopia, Hydrocephalus OMIM:187600
Alexander Disease
Ataxia, Aqueductal stenosis, Precocious puberty, Hydrocephalus, Respiratory insufficiency, Gait d... ORPHA:58
Achondroplasia
Respiratory distress, Depressed nasal bridge, Hydrocephalus, Upper airway obstruction, Choanal st... OMIM:100800
Oxoglutaric Aciduria
Hydrocephalus, Ataxia ORPHA:31
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Cardiofaciocutaneous Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Hydr... ORPHA:1340
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Uplifted earlobe, Webbed penis, Micropenis, Agenesis of corpus callosum, Hypospadi... ORPHA:261552
Hypoplasminogenemia
Cervicitis, Hydrocephalus, Periodontitis, Abnormal fallopian tube morphology, Abnormality of the ... ORPHA:722
Carnitine Palmitoyltransferase Ii Deficiency
Neonatal respiratory distress, Hydrocephalus, Abnormality of neuronal migration, Tubulointerstiti... ORPHA:157
Thakker-Donnai Syndrome
Communicating hydrocephalus, Anteverted nares, Posteriorly rotated ears, Bulbous nose, Rectovagin... ORPHA:1780
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Neonatal respiratory distress, Hydrocephalus, Abnormality of neuronal migration, Tubulointerstiti... ORPHA:228308
Czeizel-Losonci Syndrome
Low-set, posteriorly rotated ears, Spina bifida, Hydrocephalus, Myelomeningocele, Hypoplastic hel... ORPHA:2437
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Abnormal morphology of female internal genitalia, Microtia ORPHA:1834
Mucopolysaccharidosis Type 3
Mixed hearing impairment, Ataxia, Thickened helices, Adenoiditis, Abnormality of the middle ear o... ORPHA:581
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Shprintzen-Goldberg Craniosynostosis Syndrome
Anteverted nares, Posteriorly rotated ears, Abnormal pinna morphology, Cryptorchidism, Hydrocepha... OMIM:182212
Isotretinoin Embryopathy-Like Syndrome
Anotia, Hydrocephalus, Microtia OMIM:243440
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Anteverted nares, Choanal atresia, Posteriorly rotated ears, Overfolded helix, Short nose, Narrow... OMIM:301044
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anteverted nares, Anterior pituitary hypoplasia, Depressed nasal bridge, Aqueductal stenosis, Sit... OMIM:619534
1Q44 Microdeletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:238769
Mend Syndrome
Prominent nasal bridge, Abnormal auditory evoked potentials, Cryptorchidism, Hydrocephalus, Low-s... ORPHA:401973
Mend Syndrome
Posteriorly rotated ears, Prominent nasal bridge, Cryptorchidism, Hydrocephalus, Bulbous nose, Lo... OMIM:300960
Hurler Syndrome
Anteverted nares, Depressed nasal bridge, Broad nasal tip, Hydrocephalus, Wide nasal bridge, Recu... OMIM:607014
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Isomerism, Hydrocephalus OMIM:314390
Charge Syndrome
Mixed hearing impairment, Hypogonadotropic hypogonadism, Decreased response to growth hormone sti... OMIM:214800
Kabuki Syndrome
Hypoplasia of penis, Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalus, Sensorineura... ORPHA:2322
Mucopolysaccharidosis, Type Ii
Hearing impairment, Asthma, Hydrocephalus, Recurrent pneumonia, Recurrent otitis media, Tracheobr... OMIM:309900
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Underdeveloped nas... OMIM:616007
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus, Depressed nasal bridge, Anteverted nares ORPHA:1064
Partial Atrioventricular Septal Defect
Heterotaxy, Bacterial endocarditis, Exertional dyspnea ORPHA:1330
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Anotia, Microtia, Bifid nose, Atresia of the external auditory canal, Tracheomalac... ORPHA:268249
Congenital Myopathy 22A, Classic
Waddling gait, Normal pressure hydrocephalus, Wide nasal bridge, Respiratory insufficiency OMIM:620351
Otopalatodigital Syndrome Type 2
Encephalocele, Hypospadias, Depressed nasal bridge, Abnormal pinna morphology, Hydrocephalus, Mye... ORPHA:90652
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Partial agenesis of the corpus callosum, Holoprosencephaly, Micrope... OMIM:270400
Cardiofaciocutaneous Syndrome 1
Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Bulbous nose, Hydrocephalus, ... OMIM:115150
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Mohr Syndrome
Depressed nasal bridge, Broad nasal tip, Bifid nasal tip, Hydrocephalus, Conductive hearing impai... OMIM:252100
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Lateral ventricle dilatation OMIM:618367
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate ORPHA:90065
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Respiratory distress, Wide nose, Hypospadias, Epispadias, Hydrocephalu... ORPHA:2556
Choreoacanthocytosis
Bradykinesia, Arthritis, Lateral ventricle dilatation, Falls, Loss of ambulation ORPHA:2388
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, Ataxia, Hearing impairment ORPHA:2720
Alobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Proboscis, Inability to wal... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Proboscis, Inability to wal... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Proboscis, Inability to wal... ORPHA:93924
Semilobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Proboscis, Inability to wal... ORPHA:220386
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Type II lissencephaly, Hydrocephalus, Pachygyria, Agenesis of corpus callosum, Ven... OMIM:613150
Dural Sinus Malformation
Myelopathy, Hydrocephalus, Ataxia, Pulsatile tinnitus ORPHA:97339
6Q Terminal Deletion Syndrome
Low-set, posteriorly rotated ears, Hypospadias, Phimosis, Periventricular heterotopia, Abnormalit... ORPHA:75857
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus, Osteomyelitis, Hearing impairment OMIM:259700
Stromme Syndrome
Prominent nasal bridge, Hydrocephalus, Wide nasal bridge, Short columella, Low-set ears, Agenesis... OMIM:243605
15Q Overgrowth Syndrome
Low-set, posteriorly rotated ears, Mixed hearing impairment, Posteriorly rotated ears, Hydrocepha... ORPHA:314585
Orofaciodigital Syndrome I
Abnormal cortical gyration, Underdeveloped nasal alae, Hydrocephalus, Myelomeningocele, Wide nasa... OMIM:311200
Gracile Bone Dysplasia
Hydrocephalus, Micropenis OMIM:602361
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus, Depressed nasal bridge, Wide nasal bridge, Low-set ears OMIM:104350
Fanconi Anemia, Complementation Group L
Hydrocephalus, Wide nasal bridge, Depressed nasal tip, Anotia, Microtia, Aplasia of the uterus, L... OMIM:614083
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Rectovaginal fistula, Perineal fistula ORPHA:3016
Genitopatellar Syndrome
Wide nose, Small scrotum, Enlarged labia minora, Prominent nasal bridge, Prominent nose, Perivent... OMIM:606170
Hurler Syndrome
Anteverted nares, Depressed nasal bridge, Hydrocephalus, Wide nasal bridge, Rhinitis, Hearing imp... ORPHA:93473
Distal 22Q11.2 Microduplication Syndrome
Wide nose, Cryptorchidism, Hydrocephalus, Bulbous nose, Depressed nasal ridge, Protruding ear, Ab... ORPHA:261337
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Broad-based gait, Hydrocephalus, Sensorineural hearing impairme... ORPHA:2072
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly OMIM:617866
Monosomy 9Q22.3
Ovarian fibroma, Hydrocephalus, Thickened ears, Low-set ears, Short nose, Ventriculomegaly ORPHA:77301
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Inability to walk, Hydrocephalus, Gait disturban... ORPHA:2356
Hajdu-Cheney Syndrome
Wide nose, Hypospadias, Anteverted nares, Cryptorchidism, Hydrocephalus, Large earlobe, Low-set e... OMIM:102500
Icf Syndrome
Communicating hydrocephalus, Depressed nasal bridge, Low-set ears ORPHA:2268
Tetrasomy 9P
Myositis, Pericarditis, Cryptorchidism, Hydrocephalus, Bulbous nose, Polymicrogyria, Abnormal ear... ORPHA:3310
Cockayne Syndrome A
Slender nose, Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Prominent n... OMIM:216400
Mucopolysaccharidosis, Type Vii
Hydrocephalus, Recurrent upper respiratory tract infections, Sensorineural hearing impairment, Ai... OMIM:253220
Cousin Syndrome
Posteriorly rotated ears, Hydrocephalus, Ambiguous genitalia, female, Ambiguous genitalia, male, ... OMIM:260660
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Anteverted nares, Hydrocephalus, Aplasia of the vagina, Aplasia of the uterus, Agenesis of corpus... ORPHA:457284
Meckel Syndrome, Type 6
Abnormal internal genitalia, Hydrocephalus, Anencephaly, Occipital encephalocele OMIM:612284
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, External genital hypoplasia, Cryptorchidism, H... OMIM:249000
Isotretinoin-Like Syndrome
Anteverted nares, Hydrocephalus, Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Bilateral... ORPHA:2306
Cerebral Visual Impairment
Hydrocephalus, Infectious encephalitis ORPHA:447788
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Skin rash, Hydrocephalus, Ataxia, Hearing impairment ORPHA:220295
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Ataxia, Athetosis, Subependymal nodules, Ventriculomegaly ORPHA:25
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Mixed hearing impairment, Anteverted nares, Depressed nasal bridge, Repeate... ORPHA:536467
Short-Rib Thoracic Dysplasia 12
Posteriorly rotated ears, Abnormal pinna morphology, Hydrocephalus, Anencephaly, Respiratory insu... OMIM:269860
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Calcification of the auricular cartilage, Bilateral cryptorchidism, Hydrocephalus, Hypogonadism, ... ORPHA:3042
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Low-set ears, Micropenis, Agenesis... OMIM:227646
Restrictive Dermopathy 1
Depressed nasal bridge, Hypospadias, Choanal atresia, Narrow nasal ridge, Low-set ears, Convex na... OMIM:275210
Holoprosencephaly 13, X-Linked
Hearing impairment, Alobar holoprosencephaly, Colpocephaly, Microtia, Aplasia of the nose, Low-se... OMIM:301043
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Inability to walk, Hydrocephalus, Stridor, Conjunctivitis, Pulmonary arteri... ORPHA:505248
Spondyloepimetaphyseal Dysplasia, Krakow Type
Asthma, Hydrocephalus, Eczema, Allergic rhinitis OMIM:618162
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Skin rash, Pneumonia, Chronic pulmonary obstru... ORPHA:125
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Hypospadias, Anterior pituitary hypoplasia, Prominent nasal bridge, ... OMIM:619841
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Convex nasal ridge, Hydrocephalus, Micropenis, Hypoplasia of the ovary, Short nose, Decreased tes... OMIM:619321
Oeis Complex
Bifid uterus, Epispadias, Hydrocephalus, Ambiguous genitalia, female, Cryptorchidism, Vesicovagin... OMIM:258040
Iniencephaly
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Lis... ORPHA:63259
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Protruding ear, Otitis media, Micropenis, Hypospadias, Anteverted nares, Ataxia, W... OMIM:619475
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus, Bifid uterus ORPHA:2736
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Hypospadias, Depressed nasal bridge, Apnea, ... OMIM:114290
Carney Complex
Ovarian dermoid cyst, Pituitary growth hormone cell adenoma, Sertoli cell neoplasm, Elevated circ... ORPHA:1359
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Fontaine Progeroid Syndrome
Small scrotum, Depressed nasal bridge, Posteriorly rotated ears, Periventricular heterotopia, Cry... OMIM:612289
Mucopolysaccharidosis, Type Vi
Depressed nasal bridge, Pneumonia, Hydrocephalus, Recurrent upper respiratory tract infections, R... OMIM:253200
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Tubulointerstitial nephritis, Hypo... ORPHA:85450
Adams-Oliver Syndrome
Encephalocele, Pulmonary arterial hypertension, Hydrocephalus ORPHA:974
Acrofacial Dysostosis 1, Nager Type
Posteriorly rotated ears, Prominent nasal bridge, Aqueductal stenosis, Hydrocephalus, Bicornuate ... OMIM:154400
Pentalogy Of Cantrell
Encephalocele, Anencephaly, Hydrocephalus, Hypospadias ORPHA:1335
Osteopathia Striata With Cranial Sclerosis
Apnea, Posteriorly rotated ears, Conductive hearing impairment, Hydrocephalus, Partial agenesis o... OMIM:300373
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Posteriorly rotated ears, Prominent nasal bridge, Gait ataxia, Low-s... OMIM:617011
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility, Pyelonephritis, Pituitary growth hormone cell adenoma ORPHA:730
Pseudoaminopterin Syndrome
Low-set, posteriorly rotated ears, Prominent nasal bridge, Cryptorchidism, Hydrocephalus, Mild co... ORPHA:221120
Cystic Fibrosis
Male infertility, Nasal polyposis, Reduced forced expiratory volume in one second, Reduced forced... OMIM:219700
Coffin-Siris Syndrome 12
Overfolding of the superior helices, Hypospadias, Prominent nasal bridge, Anteverted nares, Depre... OMIM:619325
Marden-Walker Syndrome
Abnormal penis morphology, Hypospadias, Posteriorly rotated ears, Situs inversus totalis, Epispad... ORPHA:2461
Khan-Khan-Katsanis Syndrome
Colpocephaly, Short nose, Ventriculomegaly, Sensorineural hearing impairment OMIM:618460
Congenital Disorder Of Glycosylation, Type Iiw
Wide nose, Membranoproliferative glomerulonephritis, Underdeveloped nasal alae, Concave nasal rid... OMIM:619525
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Ataxia, Pulmonary embolism, Hydrocephalus, Pulmonary arterial hypertension,... ORPHA:79282
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Osteootohepatoenteric Syndrome
Asthma, Hydrocephalus, Hearing impairment OMIM:619377
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus OMIM:224400
Histiocytoid Cardiomyopathy
Hydrocephalus, Tachypnea, Polycystic ovaries, Cough, Lethargy, Agenesis of corpus callosum ORPHA:137675
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Difficulty walking, Occipit... ORPHA:268810
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Low-set, posteriorly rotated ears, Prominent nasal bridge, Gait atax... ORPHA:457359
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Lethargy, Hydrocephalus, Macrotia, Low-set ears OMIM:277400
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Depressed nasal bridge, Hydrocephalus, Microtia, Low-set ears, Prominent antitragus OMIM:245600
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Anteverted nares, Depressed nasal bridge, Narrow nasal ridge, Narrow nose, Cryptorch... OMIM:264090
Lymphangioleiomyomatosis
Dyspnea, Hydrocephalus, Pneumothorax, Restrictive ventilatory defect, Chylothorax, Cough, Emphyse... ORPHA:538
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Ataxia, Decreased thalamic volume, Hypoglycorrhachia, Macrotia ORPHA:168577
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Hypospadias, Pneumonia, Cryptorchidism, Asthma, Sensorineu... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Hypospadias, Pneumonia, Cryptorchidism, Asthma, Sensorineu... ORPHA:353277
Hydrolethalus Syndrome 1
Hypospadias, Abnormal pinna morphology, Abnormal cortical gyration, Bifid uterus, Anencephaly, Gr... OMIM:236680
Restrictive Dermopathy
Aplasia/Hypoplasia involving the nose, Hypospadias, Choanal atresia, Low-set ears ORPHA:1662
Basal Cell Nevus Syndrome 1
Ovarian fibroma, Spina bifida, Hydrocephalus, Wide nasal bridge, Ovarian carcinoma OMIM:109400
Hajdu-Cheney Syndrome
Wide nose, Hypospadias, Anteverted nares, Hydrocephalus, Wide nasal bridge, Periodontitis, Low-se... ORPHA:955
Cockayne Syndrome B
Slender nose, Ataxia, Prominent nasal bridge, Abnormal auditory evoked potentials, Abnormal pinna... OMIM:133540
Peters Plus Syndrome
Low-set, posteriorly rotated ears, Microtia, second degree, Hypospadias, Anteverted nares, Depres... ORPHA:709
Microphthalmia With Limb Anomalies
Low-set, posteriorly rotated ears, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Large e... ORPHA:1106
Vater/Vacterl Association
Occipital encephalocele, Abnormal nasopharynx morphology, Hypospadias, Choanal atresia, Spina bifida OMIM:192350
Exstrophy-Epispadias Complex
Bifid scrotum, Spina bifida, Bifid uterus, Epispadias, Hydrocephalus, Cryptorchidism, Cystocele, ... ORPHA:322
Yunis-Varon Syndrome
Narrow nasal base, Hypospadias, Anteverted nares, Abnormal pinna morphology, Cryptorchidism, Hydr... ORPHA:3472
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Respiratory failure, Ventriculomegaly OMIM:259720
Thoracoabdominal Syndrome
Anencephaly, Hydrocephalus, Hypospadias OMIM:313850
Wolf-Hirschhorn Syndrome
Hypospadias, Abnormal pinna morphology, Precocious puberty, Cryptorchidism, Hydrocephalus, Sensor... OMIM:194190
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Sensorineural hearing impairment, Ataxia OMIM:616084
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Mixed hearing impairment, Depressed nasal bridge, Pneumonia, Ataxia,... ORPHA:309282
Baller-Gerold Syndrome
Mixed hearing impairment, Posteriorly rotated ears, Prominent nasal bridge, Underdeveloped nasal ... OMIM:218600
Gaucher Disease
Osteomyelitis, Ataxia, Hydrocephalus, Osteoarthritis, Hepatitis, Respiratory insufficiency, Pulmo... ORPHA:355
Fetal Akinesia Deformation Sequence 1
Posteriorly rotated ears, Cryptorchidism, Hydrocephalus, Depressed nasal tip, Low-set ears OMIM:208150
Wiedemann-Rautenstrauch Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypospadias... ORPHA:3455
Osteogenesis Imperfecta
Neonatal respiratory distress, Mixed hearing impairment, Ataxia, Hydrocephalus, Osteoarthritis, N... ORPHA:666
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism, Hearing impairment OMIM:227650
Heterotaxy, Visceral, 7, Autosomal
Situs inversus totalis, Heterotaxy OMIM:616749
Knobloch Syndrome
Occipital encephalocele, Hydrocephalus, Depressed nasal bridge ORPHA:1571
Costello Syndrome
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Hydrocephalus, Pneumothorax, ... OMIM:218040
Full Nf2-Related Schwannomatosis
Myelopathy, Hydrocephalus, Unsteady gait, Sensorineural hearing impairment, Tinnitus ORPHA:637
Focal Dermal Hypoplasia
Narrow nasal bridge, Mixed hearing impairment, Cleft ala nasi, Broad nasal tip, Cryptorchidism, H... OMIM:305600
Neurofibromatosis Type 1
Ataxia, Precocious puberty, Cryptorchidism, Hydrocephalus, Hearing impairment ORPHA:636
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Right atrial isomerism, Aqueductal stenosis, Hydrocephalus, Myelomeningocel... OMIM:306955
Capillary Malformation-Arteriovenous Malformation
Chylothorax, Hydrocephalus, Epistaxis ORPHA:137667
Autosomal Recessive Malignant Osteopetrosis
Apnea, Hydrocephalus, Chronic rhinitis, Otitis media, Pulmonary arterial hypertension, Hearing im... ORPHA:667
Sturge-Weber Syndrome
Hydrocephalus, Pulmonary embolism ORPHA:3205
Renal Cysts And Diabetes Syndrome
Hypospadias, Gout, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas defe... OMIM:137920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Short nasal bridge, Type II lissencephaly, Hydrocephalus, Pachygyria, Polymicrogyria, Ventriculom... OMIM:253280
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Otopalatodigital Syndrome, Type Ii
Hypospadias, Depressed nasal bridge, Spina bifida, Posteriorly rotated ears, Cryptorchidism, Hydr... OMIM:304120
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Otosclerosis, Wide nose, Conductive hearing impairment, Sensorineura... ORPHA:580
Sacral Defect With Anterior Meningocele
Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract OMIM:600145
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Pleural effusion, Hydrocephalus, Apnea OMIM:261740
Roberts-Sc Phocomelia Syndrome
Hypospadias, Enlarged labia minora, Posteriorly rotated ears, Underdeveloped nasal alae, Abnormal... OMIM:268300
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Simpson-Golabi-Behmel Syndrome, Type 1
Neonatal respiratory distress, Hypospadias, Anteverted nares, Depressed nasal bridge, Cryptorchid... OMIM:312870
Peters-Plus Syndrome
Hypoplasia of the vagina, Microtia, second degree, Hypospadias, Posteriorly rotated ears, Cryptor... OMIM:261540
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Isomerism, Posteriorly rotated ears, Low-set ears OMIM:619657
Split Cord Malformation
Hypospadias, Cervical spina bifida, Hydrocephalus, Lipomyelomeningocele, Myelomeningocele, Mening... ORPHA:573278
Noonan Syndrome 1
Male infertility, Hypospadias, Cryptorchidism, Sensorineural hearing impairment, Synovitis, Hypog... OMIM:163950
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Hydrocephalus, Lower limb dysmetria, Protruding ear ORPHA:363700
Tuberous Sclerosis Complex
Respiratory distress, Pituitary adenoma, Noncommunicating hydrocephalus, Respiratory failure, Sub... ORPHA:805
Loeys-Dietz Syndrome 1
Hydrocephalus, Eosinophilic infiltration of the esophagus OMIM:609192
Loeys-Dietz Syndrome 2
Hydrocephalus, Spontaneous pneumothorax, Eosinophilic infiltration of the esophagus OMIM:610168
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Heterotaxy, Apneic epis... ORPHA:99125
Craniofacial Microsomia 1
Occipital encephalocele, Duplicated tragus, Hydrocephalus, Sensorineural hearing impairment, Anot... OMIM:164210
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus OMIM:175780

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 Dpcd

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 Dpcd.

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

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
Dpcdtm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Dpcdtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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