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 |
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Communicating hydrocephalus |
ORPHA:2050 |
Otopalatodigital Syndrome, Type Ii |
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Hypospadias, Depressed nasal bridge, Spina bifida, Posteriorly rotated ears, Cryptorchidism, Hydr... |
OMIM:304120 |
Mucopolysaccharidosis Type 2 |
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Communicating hydrocephalus, Otosclerosis, Wide nose, Conductive hearing impairment, Sensorineura... |
ORPHA:580 |
Sacral Defect With Anterior Meningocele |
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Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract |
OMIM:600145 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Respiratory distress, Pleural effusion, Hydrocephalus, Apnea |
OMIM:261740 |
Roberts-Sc Phocomelia Syndrome |
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Hypospadias, Enlarged labia minora, Posteriorly rotated ears, Underdeveloped nasal alae, Abnormal... |
OMIM:268300 |
Gaucher Disease, Type Iiic |
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Hydrocephalus |
OMIM:231005 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Neonatal respiratory distress, Hypospadias, Anteverted nares, Depressed nasal bridge, Cryptorchid... |
OMIM:312870 |
Peters-Plus Syndrome |
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Hypoplasia of the vagina, Microtia, second degree, Hypospadias, Posteriorly rotated ears, Cryptor... |
OMIM:261540 |
Neurofibromatosis, Type I |
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Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
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Isomerism, Posteriorly rotated ears, Low-set ears |
OMIM:619657 |
Split Cord Malformation |
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Hypospadias, Cervical spina bifida, Hydrocephalus, Lipomyelomeningocele, Myelomeningocele, Mening... |
ORPHA:573278 |
Noonan Syndrome 1 |
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Male infertility, Hypospadias, Cryptorchidism, Sensorineural hearing impairment, Synovitis, Hypog... |
OMIM:163950 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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Sinusitis, Hydrocephalus, Lower limb dysmetria, Protruding ear |
ORPHA:363700 |
Tuberous Sclerosis Complex |
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Respiratory distress, Pituitary adenoma, Noncommunicating hydrocephalus, Respiratory failure, Sub... |
ORPHA:805 |
Loeys-Dietz Syndrome 1 |
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Hydrocephalus, Eosinophilic infiltration of the esophagus |
OMIM:609192 |
Loeys-Dietz Syndrome 2 |
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Hydrocephalus, Spontaneous pneumothorax, Eosinophilic infiltration of the esophagus |
OMIM:610168 |
Congenital Total Pulmonary Venous Return Anomaly |
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Respiratory distress, Respiratory failure requiring assisted ventilation, Heterotaxy, Apneic epis... |
ORPHA:99125 |
Craniofacial Microsomia 1 |
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Occipital encephalocele, Duplicated tragus, Hydrocephalus, Sensorineural hearing impairment, Anot... |
OMIM:164210 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Hydrocephalus |
OMIM:175780 |