| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility |
OMIM:619108 |
| Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619672 |
| Spermatogenic Failure 88 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:620547 |
| Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619937 |
| Spermatogenic Failure 25 |
|
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... |
OMIM:617960 |
| Spermatogenic Failure 30 |
|
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility |
OMIM:618110 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility |
OMIM:619145 |
| Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... |
OMIM:619528 |
| Partial Chromosome Y Deletion |
|
Non-obstructive azoospermia, Decreased testicular size, Cryptorchidism, Oligozoospermia, Abnormal... |
ORPHA:1646 |
| Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:619828 |
| Spermatogenic Failure 22 |
|
Cryptozoospermia, Non-obstructive azoospermia, Male infertility |
OMIM:617706 |
| Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
| Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
| Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
| Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
| Spermatogenic Failure 23 |
|
Azoospermia, Male infertility |
OMIM:617707 |
| Spermatogenic Failure 12 |
|
Infertility, Azoospermia, Abnormal male germ cell morphology |
OMIM:615413 |
| Isochromosomy Yp |
|
Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility |
ORPHA:98797 |
| Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... |
OMIM:618341 |
| Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
| Spermatogenic Failure 72 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... |
OMIM:618153 |
| Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
| Spermatogenic Failure 8 |
|
Cryptozoospermia, Azoospermia, Oligozoospermia |
OMIM:613957 |
| Spermatogenic Failure 37 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:617576 |
| Spermatogenic Failure 33 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618152 |
| Spermatogenic Failure 46 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... |
OMIM:617965 |
| Spermatogenic Failure, X-Linked, 5 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:301099 |
| Spermatogenic Failure 84 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... |
OMIM:620409 |
| Spermatogenic Failure 65 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... |
OMIM:619712 |
| Spermatogenic Failure, X-Linked, 3 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... |
OMIM:301059 |
| Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... |
OMIM:620353 |
| Spermatogenic Failure 49 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
| Spermatogenic Failure 56 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:619515 |
| Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... |
OMIM:618664 |
| Spermatogenic Failure 54 |
|
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... |
OMIM:619379 |
| Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... |
OMIM:620222 |
| Spermatogenic Failure 76 |
|
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... |
OMIM:620084 |
| Isochromosomy Yq |
|
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... |
ORPHA:98798 |
| Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility |
OMIM:619102 |
| Spermatogenic Failure 39 |
|
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... |
OMIM:618643 |
| Spermatogenic Failure 58 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... |
OMIM:619585 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... |
ORPHA:399805 |
| Spermatogenic Failure 79 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia |
OMIM:620196 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:614822 |
| Spermatogenic Failure 1 |
|
Cryptozoospermia, Male infertility, Oligozoospermia |
OMIM:258150 |
| Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... |
OMIM:620354 |
| Spermatogenic Failure 42 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... |
OMIM:618745 |
| Spermatogenic Failure 41 |
|
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility |
OMIM:618670 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... |
ORPHA:529970 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:612997 |
| Spermatogenic Failure 63 |
|
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia |
OMIM:619689 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
| Spermatogenic Failure 78 |
|
Microcephalic sperm head, Tapered sperm head, Male infertility |
OMIM:620170 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... |
OMIM:619696 |
| Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
| Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
| Spermatogenic Failure 51 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... |
OMIM:619177 |
| Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Macrozoospermia, Male infertility |
OMIM:243060 |
| Spermatogenic Failure 86 |
|
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... |
OMIM:620499 |
| Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617644 |
| Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... |
OMIM:611102 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
| 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 |
| Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619949 |
| Spermatogenic Failure 87 |
|
Ruffled acrosome, Male infertility |
OMIM:620500 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
| Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
| Ring Chromosome Y Syndrome |
|
Streak ovary, Cryptorchidism, Abnormality of the female genitalia, Hypospadias, Male infertility,... |
ORPHA:261529 |
| Spermatogenic Failure, X-Linked, 6 |
|
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... |
OMIM:301101 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Decreased testicular size, Globozoospermia, Abnormal spermatogenesis... |
ORPHA:399808 |
| Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia |
OMIM:108420 |
| Spermatogenic Failure 81 |
|
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility |
OMIM:620277 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility, Spermatocele |
OMIM:301060 |
| Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:616950 |
| Spermatogenic Failure 38 |
|
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... |
OMIM:618433 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Type II lissencephaly, Neural tube defect |
OMIM:615041 |
| Spermatogenic Failure 77 |
|
Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Male infertility |
OMIM:620103 |
| Spermatogenic Failure, X-Linked, 7 |
|
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... |
OMIM:301106 |
| Spermatogenic Failure 85 |
|
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... |
OMIM:620490 |
| Joubert Syndrome 13 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:614173 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Azoospermia, Male infertility |
ORPHA:276183 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Type II lissencephaly, Macrocephaly at birth, Coloboma, Hydrocephalus, M... |
ORPHA:324416 |
| Spermatogenic Failure 44 |
|
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
| Ciliary Dyskinesia, Primary, 50 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... |
OMIM:620356 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility |
ORPHA:48 |
| Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
| Craniotelencephalic Dysplasia |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Hydrocephalus, Frontal encephal... |
ORPHA:1528 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
| Spermatogenic Failure 6 |
|
Decreased acrosin in sperm head, Globozoospermia, Male infertility |
OMIM:102530 |
| Morbid Obesity And Spermatogenic Failure |
|
Infertility, Obesity, Azoospermia, Oligozoospermia |
OMIM:615703 |
| Spermatogenic Failure 24 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... |
OMIM:617959 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Azoospermia, Absent vas deferens, Male infertility |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Absent vas deferens, Male infertility |
OMIM:277180 |
| Young Syndrome |
|
Azoospermia |
OMIM:279000 |
| Craniotelencephalic Dysplasia |
|
Absent septum pellucidum, Hypotelorism, Agenesis of corpus callosum, Cerebellar hypoplasia, Front... |
OMIM:218670 |
| Spermatogenic Failure 14 |
|
Azoospermia, Male infertility, Round spermatid arrest |
OMIM:615842 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lissencephaly, Agenesis of corpus ca... |
OMIM:613153 |
| Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
| Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
| Spermatogenic Failure 28 |
|
Non-obstructive azoospermia, Male infertility, Decreased testicular size |
OMIM:618086 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Short stature, Obesity, Azoospermia, Hypergonadotropic hypogonadism |
ORPHA:2183 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Male hypogonadism, Delayed menarche, Azoospermia, Decreased testicular size, Decreased female lib... |
ORPHA:52901 |
| Baraitser-Winter Syndrome 2 |
|
Webbed neck, Secondary microcephaly, Microphthalmia, Agenesis of corpus callosum, Short neck, Col... |
OMIM:614583 |
| Ciliary Dyskinesia, Primary, 51 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... |
OMIM:620438 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Cerebral atrophy, Agenesis of corpus callosum, Microcephaly, Coloboma, Microphthalmia |
OMIM:274270 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Hypogonadism, Decreased testicular size, Azoospermia, Primary amenorrhea, Infertility |
OMIM:229070 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Hypoplasia of the brainstem, Type II lissencephaly, Agenesis of corpus ca... |
OMIM:615249 |
| Spermatogenic Failure 13 |
|
Azoospermia, Male infertility |
OMIM:615841 |
| Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Male infertility |
OMIM:301077 |
| Frontonasal Dysplasia 1 |
|
Cranium bifidum occultum, Anterior basal encephalocele, Pericallosal lipoma, Agenesis of corpus c... |
OMIM:136760 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Short stature, Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus |
ORPHA:2578 |
| Androgen Insensitivity, Partial |
|
Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi... |
OMIM:312300 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Diffuse white matter abnormalities, Occipital encephalocele, Hypoplasia of the pons, Polymicrogyr... |
ORPHA:370959 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Proptosis, Hypoplasia of the pons, Cerebral atrophy, Intrauterine growth retardation, Periventric... |
OMIM:616171 |
| Meckel Syndrome 13 |
|
Cerebellar hypoplasia, Occipital encephalocele, Molar tooth sign on MRI |
OMIM:617562 |
| Lambert Syndrome |
|
Intrauterine growth retardation, Aplasia/Hypoplasia of the cerebellum, Branchial anomaly |
ORPHA:1296 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Hypoplasia o... |
OMIM:615771 |
| Microphthalmia/Coloboma 5 |
|
Chorioretinal coloboma, Bilateral microphthalmos, Anophthalmia, Microphthalmia, Holoprosencephaly... |
OMIM:611638 |
| Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Orbital encephaloce... |
OMIM:164180 |
| Joubert Syndrome 15 |
|
Coloboma, Exencephaly |
OMIM:614464 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h... |
OMIM:228300 |
| Premature Ovarian Failure 10 |
|
Decreased testicular size, Azoospermia, Hypoplasia of the ovary, Primary amenorrhea, Premature ov... |
OMIM:612885 |
| Joubert Syndrome 16 |
|
Coloboma, Encephalocele, Dandy-Walker malformation, Hypertelorism |
OMIM:614465 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Intrauterine growth retardation, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly... |
OMIM:616570 |
| Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea |
OMIM:602390 |
| Microphthalmia/Coloboma 6 |
|
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia, Bilateral microphthalmos |
OMIM:613703 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility |
ORPHA:3000 |
| Lissencephaly 8 |
|
Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Hypo... |
OMIM:617255 |
| Septopreoptic Holoprosencephaly |
|
Abnormal midbrain morphology, Rhombencephalosynapsis, Ethmoidal encephalocele, Hypoplasia of the ... |
ORPHA:280195 |
| Biemond Syndrome Type 2 |
|
Coloboma, Hydrocephalus, Microphthalmia |
ORPHA:141333 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Hypergonadotropic hypogonadism |
OMIM:613724 |
| Hartsfield Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Intrauterine growth retardation, Encephalocele, Hypert... |
ORPHA:2117 |
| 2Q24 Microdeletion Syndrome |
|
Microphthalmia, Short neck, Coloboma, Hypertelorism |
ORPHA:1617 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Subcortical heterotopia, Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Micr... |
OMIM:614643 |
| Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Failure to thrive, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism... |
OMIM:300200 |
| Coach Syndrome 2 |
|
Cerebellar vermis hypoplasia, Chorioretinal coloboma, Agenesis of corpus callosum, Coloboma, Hydr... |
OMIM:619111 |
| Microphthalmia/Coloboma 4 |
|
Coloboma, Microphthalmia |
OMIM:251505 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Non-obstructive azoospermia, Azoospermia, Decreased testicular size, Eunuchoid... |
ORPHA:432 |
| Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Azoospermia, Patent ductus arteriosus, Absent outer dynein arms |
OMIM:618300 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Type II lissencephaly, Hydrocephalus, Cerebellar hypoplasia, Microphthalmia |
OMIM:614830 |
| Joubert Syndrome 25 |
|
Cerebellar hypoplasia, Molar tooth sign on MRI |
OMIM:616781 |
| Joubert Syndrome 14 |
|
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Encephalocele, Hypoplasia of the corpu... |
OMIM:614424 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary am... |
OMIM:614837 |
| Verheij Syndrome |
|
Branchial cyst, Cerebral atrophy, Intrauterine growth retardation, Microcephaly, Short neck, Colo... |
OMIM:615583 |
| Maternal Uniparental Disomy Of Chromosome X |
|
Short stature, Azoospermia, Ambiguous genitalia, Gonadal tissue inappropriate for external genita... |
ORPHA:261519 |
| Holoprosencephaly |
|
Spinal dysraphism, Chorioretinal coloboma, Aplasia/Hypoplasia of the corpus callosum, Branchial a... |
ORPHA:2162 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microcephaly, Microphthalmia |
OMIM:616335 |
| Adams-Oliver Syndrome 2 |
|
Lateral ventricle dilatation, Cerebral atrophy, Polymicrogyria, Cerebellar hypoplasia, Microcepha... |
OMIM:614219 |
| Meckel Syndrome, Type 4 |
|
Agenesis of cerebellar vermis, Intrauterine growth retardation, Encephalocele, Hydrocephalus, Mol... |
OMIM:611134 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Coloboma, Holoprosencephaly, Anterior encephalocele, Absent septum pellucidum |
OMIM:601357 |
| Gombo Syndrome |
|
Microcephaly, Microphthalmia |
OMIM:233270 |
| Ring Chromosome 21 Syndrome |
|
Short stature, Amenorrhea, Azoospermia, Infertility |
ORPHA:1445 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Polymicrogyria, Progressive macrocephaly, Hydrocephalus, Cavum septum pellucidum, Microphthalmia,... |
OMIM:602501 |
| Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Male sexual dysfunction, Bifid scrotum, Bilateral cryptorchidism, Azoosperm... |
ORPHA:90797 |
| Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Hypotelorism, Microcephaly, Coloboma, Microphthalmia, Cyclopia, Holoprosencephaly |
OMIM:147250 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Focal cortical dysplasia, Hypoplasia of the brainstem, Hypoplasia o... |
OMIM:613155 |
| 46,Xx Sex Reversal 2 |
|
Small scrotum, Perineal hypospadias, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, Tru... |
OMIM:278850 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Hypogonadism, Decreased testicular size, Azoospermia, Cryptorchidism, Primary amenorrhea, Micropenis |
OMIM:614897 |
| Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
| Intellectual Developmental Disorder, Autosomal Recessive 67 |
|
Microcephaly, Coloboma |
OMIM:618295 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Gómez-López-Hernández Syndrome |
|
Abnormal brainstem morphology, Abnormal cerebellum morphology, Hydrocephalus, Cerebellar vermis h... |
ORPHA:1532 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Short stature, Azoospermia, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601076 |
| Warburg Micro Syndrome 1 |
|
Cerebellar vermis hypoplasia, Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesis of co... |
OMIM:600118 |
| Joubert Syndrome 4 |
|
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Thickened superior cerebell... |
OMIM:609583 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased testicular size, Azoospermia, Delayed puberty, Short stature, Hypergonadotropic hypogon... |
ORPHA:280679 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Leukoencephalopathy, Hypoplasia of the pons, Polymicrogyria, Type II lissencephaly, Hypoplasia of... |
OMIM:615181 |
| Hydrolethalus Syndrome 2 |
|
Anencephaly, Hydrocephalus, Molar tooth sign on MRI |
OMIM:614120 |
| Subependymal Nodular Heterotopia |
|
Focal cortical dysplasia, Occipital encephalocele, Polymicrogyria, Myelomeningocele, Abnormality ... |
ORPHA:101030 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Hypo... |
OMIM:236670 |
| Fryns Microphthalmia Syndrome |
|
Anophthalmia, Neural tube defect, Microphthalmia |
OMIM:600776 |
| Meckel Syndrome, Type 8 |
|
Occipital encephalocele, Encephalocele, Anophthalmia, Microcephaly, Short neck, Microphthalmia |
OMIM:613885 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Small scrotum, Decreased testicular size, Azoospermia, Eunuchoid habitus, Cryptorchidism, Hypogon... |
OMIM:308700 |
| Ritscher-Schinzel Syndrome 1 |
|
Intrauterine growth retardation, Low posterior hairline, Coloboma, Hydrocephalus, Hypertelorism, ... |
OMIM:220210 |
| Joubert Syndrome 18 |
|
Agenesis of cerebellar vermis, Intrauterine growth retardation, Occipital encephalocele, Molar to... |
OMIM:614815 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Clitoral hypertrophy, Abnormal vagina morphology, Streak ovary, Abnormal labia morphology, Abnorm... |
ORPHA:251510 |
| 48,Xyyy Syndrome |
|
Male hypogonadism, Azoospermia |
ORPHA:99329 |
| Hydrolethalus |
|
Absent septum pellucidum, Anophthalmia, Deeply set eye, Agenesis of corpus callosum, Hydrocephalu... |
ORPHA:2189 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Hypoplasia of the pons, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebella... |
OMIM:617695 |
| Congenital Toxoplasmosis |
|
Cerebral calcification, Intrauterine growth retardation, Microcephaly, Hydrocephalus, Microphthalmia |
ORPHA:858 |
| Cofs Syndrome |
|
Cerebral cortical atrophy, Cerebral calcification, Intrauterine growth retardation, Microcephaly,... |
ORPHA:1466 |
| 49,Xyyyy Syndrome |
|
Male hypogonadism, Abnormality of the testis size, Decreased testicular size, External genital hy... |
ORPHA:99330 |
| Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Dilated fourth ventricle, Cerebellar hypoplasia, Molar tooth sign on MRI... |
OMIM:614175 |
| 47,Xyy Syndrome |
|
Varicocele, Azoospermia, Cryptorchidism, Oligozoospermia, Micropenis, Macroorchidism, Hypospadias... |
ORPHA:8 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal cortical gyration, Proptosis, Polymicrogyria, Encephalocele, Exencephaly, Abnormality of... |
ORPHA:2211 |
| Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI |
ORPHA:166024 |
| Microphthalmia, Isolated 4 |
|
Coloboma, Microphthalmia |
OMIM:613094 |
| Neurooculocardiogenitourinary Syndrome |
|
Secondary microcephaly, Redundant neck skin, Coloboma, Microphthalmia, Hypertelorism |
OMIM:618652 |
| 48,Xxyy Syndrome |
|
Decreased testicular size, Obesity, Azoospermia, Cryptorchidism, Infertility, Hypoplasia of penis... |
ORPHA:10 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Intrauterine growth retardation, Encephalocele, Agenesis of corpus callosum, Hypertelorism, Micro... |
ORPHA:228390 |
| Joubert Syndrome 7 |
|
Brainstem dysplasia, Encephalocele, Molar tooth sign on MRI, Hypoplasia of the brainstem |
OMIM:611560 |
| Pierpont Syndrome |
|
Abnormal cortical gyration, Deeply set eye, Short neck, Primary microcephaly, Hypertelorism, Micr... |
ORPHA:487825 |
| 15Q24 Microdeletion Syndrome |
|
Myelomeningocele, Microcephaly, Coloboma, Hypertelorism |
ORPHA:94065 |
| Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Polymicrogyria, Microphthalmia, Absent septum pellucidum, Anophthalmi... |
ORPHA:899 |
| X-Linked Mandibulofacial Dysostosis |
|
Microcephaly, Webbed neck, Branchial anomaly |
ORPHA:1131 |
| 46,Xx Sex Reversal 1 |
|
Clitoral hypertrophy, Azoospermia, True hermaphroditism, Ovotestis, Bicornuate uterus, Hypospadia... |
OMIM:400045 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypogonadism, Azoospermia, Growth delay |
OMIM:615234 |
| Baraitser-Winter Syndrome 1 |
|
Chorioretinal coloboma, Microphthalmia, Agenesis of corpus callosum, Low posterior hairline, Micr... |
OMIM:243310 |
| Meckel Syndrome, Type 2 |
|
Intrauterine growth retardation, Encephalocele, Microphthalmia, Cystic hygroma, Meningocele, Anen... |
OMIM:603194 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
| Joubert Syndrome 22 |
|
Agenesis of cerebellar vermis, Intrauterine growth retardation, Molar tooth sign on MRI |
OMIM:615665 |
| Orofaciodigital Syndrome Xv |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:617127 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Coloboma Of Macula With Type B Brachydactyly |
|
Coloboma |
OMIM:120400 |
| Bresek Syndrome |
|
Intrauterine growth retardation, Neonatal death, Microcephaly, Hydrocephalus, Microphthalmia, Iri... |
ORPHA:85284 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:620197 |
| Pseudotrisomy 13 Syndrome |
|
Polymicrogyria, Encephalocele, Hypotelorism, Agenesis of corpus callosum, Cerebellar hypoplasia, ... |
OMIM:264480 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Microcephaly, Branchial cyst |
ORPHA:435938 |
| Joubert Syndrome 30 |
|
Dandy-Walker malformation, Cerebellar atrophy, Superior cerebellar dysplasia, Molar tooth sign on... |
OMIM:617622 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Encephalocele, Agenesis of co... |
OMIM:253800 |
| Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Coloboma |
OMIM:616490 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Intrauterine growth retardation, Increased nuchal translucency, Branchial anomaly, Hypoplasia of ... |
ORPHA:453499 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Clitoral hypertrophy, Failure to thrive, Abnormal labia majora morphology, Decreased testicular s... |
ORPHA:90791 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Hypoplasia of the brainstem, Type II lissencephaly, Microphthalmia, Encephalocele, Agenesis of co... |
OMIM:613150 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Coloboma, Iris coloboma, Microphthalmia |
OMIM:610023 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Hypoplasia of the corpus callosum, Deeply set eye, Microcephaly, Short neck, Coloboma, Thick corp... |
ORPHA:464288 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia, Short neck, Hypertelorism, Agenesis of corpus callosum |
ORPHA:93267 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Microphthalmia, Hyp... |
OMIM:300887 |
| Joubert Syndrome 9 |
|
Encephalocele, Molar tooth sign on MRI |
OMIM:612285 |
| Branchiogenic-Deafness Syndrome |
|
Branchial fistula, Branchial cyst |
OMIM:609166 |
| Hemochromatosis, Type 1 |
|
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence |
OMIM:235200 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Postnatal growth retardation, Azoospermia, Decreased testicular size, Short stature, Hypergonadot... |
OMIM:300845 |
| Facial Clefting, Oblique, 1 |
|
Coloboma, Microphthalmia |
OMIM:600251 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Webbed neck, Branchial fistula, Optic disc coloboma, Deeply set eye, Low posterior hairline, Micr... |
ORPHA:261337 |
| Ciliary Dyskinesia, Primary, 34 |
|
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... |
OMIM:617091 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Spinal dysraphism, Proptosis, Aplasia/Hypoplasia of the corpus callosum, Intrauterine growth reta... |
ORPHA:1908 |
| Frontofacionasal Dysplasia |
|
Encephalocele, Hypoplasia of olfactory tract, Hypoplasia of the corpus callosum, Hypertelorism, M... |
ORPHA:1791 |
| Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Microphthalmia, Hydrocephalus, Retinal coloboma |
OMIM:601794 |
| Pierpont Syndrome |
|
Deeply set eye, Microcephaly, Short neck, Microphthalmia, Hypertelorism |
OMIM:602342 |
| Joubert Syndrome 32 |
|
Abnormal cerebellum morphology, Molar tooth sign on MRI |
OMIM:617757 |
| Microphthalmia, Syndromic 13 |
|
Microcephaly, Iris coloboma, Chorioretinal coloboma, Microphthalmia |
OMIM:300915 |
| Adams-Oliver Syndrome 4 |
|
Microphthalmia, Umbilical hernia |
OMIM:615297 |
| Cat-Eye Syndrome |
|
Chorioretinal coloboma, Intrauterine growth retardation, Hypertelorism, Microphthalmia, Iris colo... |
ORPHA:195 |
| Joubert Syndrome 6 |
|
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Dilated fourth ventricle, Elongated su... |
OMIM:610688 |
| Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Spina bifida, ... |
OMIM:207950 |
| Temtamy Syndrome |
|
Iris coloboma, Chorioretinal coloboma, Aplasia/Hypoplasia of the corpus callosum, Macrocephaly, M... |
ORPHA:1777 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly, Microphtha... |
OMIM:614833 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Agenesis of corpus callosum, Hydrocephalus, Microphthalmia, Holoprosencephaly, Iris... |
ORPHA:77298 |
| Coach Syndrome 1 |
|
Cerebellar vermis hypoplasia, Occipital encephalocele, Encephalocele, Coloboma, Hypertelorism, Ap... |
OMIM:216360 |
| Curry-Jones Syndrome |
|
Iris coloboma, Polymicrogyria, Hemimegalencephaly, Agenesis of corpus callosum, Lipomyelomeningoc... |
OMIM:601707 |
| Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Stillbirth, Agenesis of corpus callosum, Cerebellar hypoplasia, Mic... |
OMIM:243605 |
| Monosomy 18P |
|
Webbed neck, Low posterior hairline, Microcephaly, Short neck, Microphthalmia, Holoprosencephaly |
ORPHA:1598 |
| Joubert Syndrome 10 |
|
Polyhydramnios, Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:300804 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Umbilical hernia, Cerebellar hypoplasia, Microcephaly, Partial absence of cerebellar vermis, Colo... |
ORPHA:329224 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Increased nuchal translucency, Branchial anomaly, Hypoplasia of the corpus callosum, Agenesis of ... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Increased nuchal translucency, Branchial anomaly, Hypoplasia of the corpus callosum, Agenesis of ... |
ORPHA:352665 |
| Holoprosencephaly 7 |
|
Iris coloboma, Alobar holoprosencephaly, Semilobar holoprosencephaly, Bilateral microphthalmos, H... |
OMIM:610828 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Microcephaly, Unilateral microphthalmos, Coloboma, Bilateral microphthalmos |
OMIM:619318 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Lateral ventricle dilatation, Periventricular heterotopia, Hypoplasia of the corpus callosum, Mic... |
OMIM:614105 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Micropenis, Abnormal internal... |
ORPHA:1772 |
| Kapur-Toriello Syndrome |
|
Polymicrogyria, Retinal coloboma, Dysplastic corpus callosum, Short neck, Microphthalmia, Pachygy... |
ORPHA:2328 |
| Microphthalmia/Coloboma 10 |
|
Iris coloboma, Anophthalmia, Chorioretinal coloboma, Microphthalmia |
OMIM:616428 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Basal ganglia calcification, Agenesis of corpus callosum, Cerebellar h... |
OMIM:214150 |
| Alg3-Cdg |
|
Hypoplasia of the pons, Hypoplasia of the corpus callosum, Cerebral white matter atrophy, Microce... |
ORPHA:79321 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation, Bilateral microphthalmos, Diffuse cerebral atrophy, Microcephaly, C... |
ORPHA:77299 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Webbed neck, Lateral ventricle dilatation, Umbilical hernia, Hypoplasia of the corpus callosum, M... |
OMIM:618914 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Cerebellar vermis hypoplasia, Polymicrogyria, Coloboma, Microphthalmia, Hypertelorism |
OMIM:612379 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcephaly, Microphthalmia |
ORPHA:2528 |
| Frontorhiny |
|
Cranium bifidum occultum, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Pericallosal ... |
ORPHA:391474 |
| Microcephaly-Micromelia Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Intrauterine growth retardation, Neonatal death, Micro... |
OMIM:251230 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Small cerebral cortex, Optic nerve hypoplasia, Intrauterine growth retardation, Hypoplasia of the... |
OMIM:617914 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Inferior cerebellar vermis hypoplasia, Abnormal brainstem morphology, Dilated fourth ventricle, C... |
ORPHA:370022 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Cerebral atrophy, Cerebellar hypoplasia, Microcephaly, Microphthalmia, Pachygyria, Simplified gyr... |
OMIM:251270 |
| Meckel Syndrome, Type 5 |
|
Anencephaly, Occipital encephalocele, Microphthalmia |
OMIM:611561 |
| Blepharocheilodontic Syndrome 1 |
|
Neural tube defect, Hypertelorism |
OMIM:119580 |
| Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
| Microphthalmia/Coloboma 7 |
|
Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia |
OMIM:614497 |
| 48,Xxxy Syndrome |
|
Small scrotum, Hypogonadism, Decreased testicular size, Obesity, Azoospermia, Cryptorchidism, Inf... |
ORPHA:96263 |
| Otodental Dysplasia |
|
Coloboma, Delayed eruption of teeth |
OMIM:166750 |
| Congenital Varicella Syndrome |
|
Cerebral cortical atrophy, Intrauterine growth retardation, Microcephaly, Microphthalmia |
ORPHA:291 |
| Temtamy Syndrome |
|
Chorioretinal coloboma, Agenesis of corpus callosum, Hypertelorism, Microphthalmia, Thick corpus ... |
OMIM:218340 |
| Joubert Syndrome 2 |
|
Dysgenesis of the cerebellar vermis, Hypoplasia of the brainstem, Brainstem dysplasia, Encephaloc... |
OMIM:608091 |
| Joubert Syndrome 40 |
|
Molar tooth sign on MRI |
OMIM:619582 |
| Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
| Slc35A2-Cdg |
|
Abnormal midbrain morphology, Cerebellar atrophy, Intrauterine growth retardation, Atrophy/Degene... |
ORPHA:356961 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Cerebral atrophy, Periventricular nodular heterotopia, Hypoplasia of the corpus callosum, Colobom... |
OMIM:618659 |
| Joubert Syndrome 31 |
|
Molar tooth sign on MRI |
OMIM:617761 |
| Joubert Syndrome 35 |
|
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Molar tooth sign on MRI |
OMIM:618161 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebellar vermis hypoplasia, Polymicrogyria, Cerebral calcification, Hypoplasia of the corpus ca... |
OMIM:616538 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Occipital meningocele, Hydrocephalus, ... |
OMIM:616546 |
| Branchiogenic Deafness Syndrome |
|
Branchial fistula, Branchial cyst |
ORPHA:50815 |
| Abruzzo-Erickson Syndrome |
|
Coloboma |
OMIM:302905 |
| 49,Xxxxy Syndrome |
|
Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Cryptorchidism, Short statur... |
ORPHA:96264 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Delayed eruption of teeth, Encephalocele, Agenesis of corpus callosum, Deeply set eye, Microcepha... |
OMIM:619148 |
| Mmep Syndrome |
|
Microcephaly, Microphthalmia |
ORPHA:3434 |
| Ring Chromosome 22 Syndrome |
|
Azoospermia, Growth delay |
ORPHA:1446 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia, Intrauterine growth retardation, Hydrocephalus, Macrocephaly |
OMIM:300863 |
| Al-Gazali-Bakalinova Syndrome |
|
Molar tooth sign on MRI, Lymphedema |
OMIM:607131 |
| Pelvis-Shoulder Dysplasia |
|
Spina bifida occulta, Iris coloboma, Optic disc coloboma, Microphthalmia |
OMIM:169550 |
| Microphthalmia With Brain And Digit Anomalies |
|
Inferior cerebellar vermis hypoplasia, Chorioretinal coloboma, Anophthalmia, Agenesis of corpus c... |
ORPHA:139471 |
| Familial Glucocorticoid Deficiency |
|
Precocious puberty, Leydig cell neoplasia, Failure to thrive, Azoospermia, Cryptorchidism, Weight... |
ORPHA:361 |
| Adult Krabbe Disease |
|
Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal pons morphology |
ORPHA:206448 |
| Bloom Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Azoospermia, Cryptorchidism, Decre... |
OMIM:210900 |
| Joubert Syndrome 3 |
|
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Molar tooth sign on MRI |
OMIM:608629 |
| 8P11.2 Deletion Syndrome |
|
Hypogonadism, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Short stature, Hypoplas... |
ORPHA:251066 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Umbilical hernia, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Hypotelorism, Cerebel... |
ORPHA:2166 |
| Joubert Syndrome 33 |
|
Molar tooth sign on MRI |
OMIM:617767 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microcephaly, Microphthalmia |
OMIM:278780 |
| Joubert Syndrome 20 |
|
Molar tooth sign on MRI |
OMIM:614970 |
| Treacher-Collins Syndrome |
|
Branchial fistula, Encephalocele, Hypertelorism, Microphthalmia, Iris coloboma |
ORPHA:861 |
| Xk Aprosencephaly Syndrome |
|
Microcephaly, Hypotelorism, Microphthalmia |
ORPHA:3469 |
| Marden-Walker Syndrome |
|
Inferior cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Intrauterine growth retardati... |
OMIM:248700 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Iris coloboma, Chorioretinal coloboma, Microphthalmia |
OMIM:120433 |
| Ciliary Dyskinesia, Primary, 18 |
|
Absent outer dynein arms, Absent inner dynein arms, Immotile sperm, Male infertility |
OMIM:614874 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Monosomy 13Q14 |
|
Webbed neck, Intrauterine growth retardation, Hypoplasia of the corpus callosum, Microcephaly, Sh... |
ORPHA:1587 |
| Joubert Syndrome 39 |
|
Cerebellar vermis hypoplasia, Occipital encephalocele, Molar tooth sign on MRI |
OMIM:619562 |
| Ravine Syndrome |
|
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
| Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Absent septum pellucidum, Agenesis of corpus callosum, Microceph... |
OMIM:609053 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Impotence, Aplasia/hypoplasia of the uterus, Non-obstructive azoospermia, Streak ovary, Cryptorch... |
ORPHA:2232 |
| Abruzzo-Erickson Syndrome |
|
Coloboma, Iris coloboma, Chorioretinal coloboma |
ORPHA:921 |
| Curry-Jones Syndrome |
|
Iris coloboma, Optic disc coloboma, Agenesis of corpus callosum, Microphthalmia, Hypertelorism |
ORPHA:1553 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypogonadism, Azoospermia, Growth delay |
ORPHA:300298 |
| Branchiootorenal Syndrome 1 |
|
Abnormal cerebral morphology, Branchial fistula, Branchial cyst |
OMIM:113650 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Joubert Syndrome 1 |
|
Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Hypoplasia of the brainstem, B... |
OMIM:213300 |
| Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebella... |
OMIM:613001 |
| Joubert Syndrome 28 |
|
Molar tooth sign on MRI |
OMIM:617121 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Short neck, Coloboma, Hypertelorism |
OMIM:616789 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Gray matter heterotopia, Microcephaly, Thin corpus callosum, Microphthalmia |
OMIM:619694 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Hypotelorism, Deeply set eye, Cerebellar hypoplasia, Microcephaly, Hypertelorism, Microphthalmia,... |
OMIM:612530 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Retinal coloboma, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Agenesis of co... |
ORPHA:508498 |
| Complete Androgen Insensitivity Syndrome |
|
Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... |
ORPHA:99429 |
| Microphthalmia/Coloboma 3 |
|
Iris coloboma, Microphthalmia |
OMIM:610092 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Coloboma, Hypertelorism |
OMIM:167730 |
| Chromosome 13Q14 Deletion Syndrome |
|
Chorioretinal coloboma, Umbilical hernia, Absent septum pellucidum, Hypoplasia of the corpus call... |
OMIM:613884 |
| Trisomy 18 |
|
Webbed neck, Iris coloboma, Aplasia/Hypoplasia of the corpus callosum, Intrauterine growth retard... |
ORPHA:3380 |
| Aromatase Deficiency |
|
Female infertility, Ambiguous genitalia, female, Obesity, Eunuchoid habitus, Cryptorchidism, Fema... |
ORPHA:91 |
| 1Q21.1 Microdeletion Syndrome |
|
Intrauterine growth retardation, Agenesis of corpus callosum, Deeply set eye, Microcephaly, Hydro... |
ORPHA:250989 |
| Jacobsen Syndrome |
|
Chorioretinal coloboma, Intrauterine growth retardation, Microcephaly, Short neck, Macular hypopl... |
OMIM:147791 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal brainstem morphology, Abnormal cerebellum morphology |
ORPHA:255182 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Macrocephaly, Coloboma, Shallow orbits, Cavum septum pellucidum, Microphthalmia, Relative macroce... |
OMIM:617306 |
| Joubert Syndrome 27 |
|
Molar tooth sign on MRI |
OMIM:617120 |
| Joubert Syndrome With Oculorenal Defect |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Encephalocele, Molar tooth sign on MRI |
ORPHA:2318 |
| Ciliary Dyskinesia, Primary, 14 |
|
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... |
OMIM:613807 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypoplasia of the pons, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Lobar hol... |
ORPHA:468631 |
| Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Optic disc coloboma, Polymicrogyria, ... |
OMIM:304050 |
| Bloom Syndrome |
|
Intrauterine growth retardation, Azoospermia, Severe postnatal growth retardation, Oligozoospermi... |
ORPHA:125 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Hypertelorism, Branchial anomaly, Deeply set eye |
ORPHA:466950 |
| Joubert Syndrome With Renal Defect |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Encephalocele, Molar tooth sign on MRI |
ORPHA:220497 |
| Ciliary Dyskinesia, Primary, 9 |
|
Absent outer dynein arms, Male infertility |
OMIM:612444 |
| Mosaic Trisomy 9 |
|
Webbed neck, Intrauterine growth retardation, Hypotelorism, Microcephaly, Short neck, Spina bifid... |
ORPHA:99776 |
| Coach Syndrome 3 |
|
Molar tooth sign on MRI |
OMIM:619113 |
| Trisomy 13 |
|
Intrauterine growth retardation, Anophthalmia, Hypotelorism, Deeply set eye, Aplasia/Hypoplasia o... |
ORPHA:3378 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Joubert Syndrome 37 |
|
Cerebellar vermis hypoplasia, Broad neck, Hypoplasia of the corpus callosum, Deeply set eye, Hype... |
OMIM:619185 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Cerebellar hypoplasia, Intrauterine growth retardation, Hydrocephalus, Microphthalmia |
ORPHA:163966 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Agenesis of corpus callosum, Hydrocephalus, Microphthalmia, Septo-optic dysplasia, Iris coloboma |
ORPHA:3301 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum, Lymphedema |
ORPHA:79279 |
| Frontonasal Dysplasia 2 |
|
Cerebellar vermis hypoplasia, Intrauterine growth retardation, Encephalocele, Hypoplasia of the c... |
OMIM:613451 |
| Cataract 9, Multiple Types |
|
Iris coloboma, Microphthalmia |
OMIM:604219 |
| Pontocerebellar Hypoplasia Type 10 |
|
Abnormal brainstem morphology |
ORPHA:411493 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Bilateral microphthalmos, Microcephaly, Coloboma, Microphthalmia, Hypertelorism |
ORPHA:2399 |
| Bor Syndrome |
|
Branchial cyst |
ORPHA:107 |
| Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Bilateral microphthalmos, Retinal coloboma, Hydrocephalus, Spina bifida, Iris co... |
ORPHA:2839 |
| Branchiootic Syndrome |
|
Branchial fistula |
ORPHA:52429 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Microcephaly, Intrauterine growth retardation, Branchial fistula, Deeply set eye |
ORPHA:261330 |
| Mycophenolate Mofetil Embryopathy |
|
Chorioretinal coloboma, Agenesis of corpus callosum, Hydrocephalus, Hypertelorism, Microphthalmia... |
ORPHA:268249 |
| Joubert Syndrome 8 |
|
Occipital encephalocele, Molar tooth sign on MRI |
OMIM:612291 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum |
OMIM:614402 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
| Stevenson-Carey Syndrome |
|
Cerebellar hypoplasia, Coloboma, Hypoplasia of the corpus callosum, Microphthalmia |
OMIM:611961 |
| Fanconi Anemia, Complementation Group R |
|
Microcephaly, Hydrocephalus, Microphthalmia |
OMIM:617244 |
| Classic Galactosemia |
|
Cryptorchidism, Decreased fertility in females, Delayed puberty, Oligomenorrhea, Primary amenorrh... |
ORPHA:79239 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Cerebellar vermis hypoplasia, Cerebral atrophy, Polymicrogyria, Increased nuchal translucency, Hy... |
OMIM:618494 |
| 2Q31.1 Microdeletion Syndrome |
|
Cerebral cortical atrophy, Proptosis, Optic disc coloboma, Microcephaly, Short neck, Coloboma, Hy... |
ORPHA:251014 |
| Phakomatosis Pigmentokeratotica |
|
Coloboma, Spina bifida |
ORPHA:2874 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Irregular menstruation, Male hypogonadism, Precocious puberty in females, Failure to thrive, Bifi... |
ORPHA:90793 |
| Joubert Syndrome With Ocular Defect |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Encephalocele, Molar tooth sign on MRI |
ORPHA:220493 |
| Meckel Syndrome 14 |
|
Occipital encephalocele, Increased nuchal translucency, Short neck, Hypertelorism, Microphthalmia... |
OMIM:619879 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Ethmoidal encephalocele, Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Iris coloboma, Chorioretinal coloboma, Microphthalmia |
ORPHA:1473 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Hydrocephalus, Agenesis of cerebella... |
ORPHA:163961 |
| Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia, Neonatal death |
OMIM:615524 |
| Duplication Of The Pituitary Gland |
|
Polyhydramnios, Encephalocele, Abnormal midbrain morphology |
ORPHA:314621 |
| Neu-Laxova Syndrome 1 |
|
Broad neck, Hydranencephaly, Proptosis, Stillbirth, Small placenta, Intrauterine growth retardati... |
OMIM:256520 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Cerebellar vermis hypoplasia, Occipital encephalocele, Dysgenesis of the cerebellar vermis, Abnor... |
ORPHA:397715 |
| Spondylo-Ocular Syndrome |
|
Webbed neck, Low posterior hairline, Short neck, Aplasia/Hypoplasia of the lens, Microphthalmia, ... |
ORPHA:85194 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Cerebral cortical atrophy, Intrauterine growth retardation, Hyperintensity of cer... |
ORPHA:48431 |
| Ring Chromosome 10 Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Short neck, Hypertelorism |
ORPHA:1438 |
| Fanconi Anemia, Complementation Group G |
|
Microcephaly, Microphthalmia |
OMIM:614082 |
| Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
| Isolated Posterior Meningocele |
|
Hydromyelia, Chiari malformation, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital men... |
ORPHA:268810 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Dilated fourth ventricle, Cerebellar h... |
OMIM:619306 |
| Cousin Syndrome |
|
Hydranencephaly, Deeply set eye, Short neck, Hydrocephalus, Macrocephaly, Microphthalmia, Hyperte... |
OMIM:260660 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Secondary microcephaly, Microphthalmia, Cerebellar hypoplasia, Neonatal death |
OMIM:613730 |
| 8Q24.3 Microdeletion Syndrome |
|
Global brain atrophy, Branchial cyst, Bilateral microphthalmos, Retinal coloboma, Secondary micro... |
ORPHA:508488 |
| H Syndrome |
|
Hypogonadism, Decreased testicular size, Azoospermia, Amenorrhea, Delayed puberty, Micropenis, Sh... |
ORPHA:168569 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Polymicrogyria, Type II lissencephaly, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of t... |
OMIM:253280 |
| Oligomeganephronia |
|
Branchial cyst, Optic disc coloboma |
ORPHA:2260 |
| Holoprosencephaly 1 |
|
Alobar holoprosencephaly, Hypotelorism, Agenesis of corpus callosum, Cerebellar hypoplasia, Micro... |
OMIM:236100 |
| Basal Cell Nevus Syndrome 1 |
|
Calcification of falx cerebri, Hypertelorism, Hydrocephalus, Spina bifida, Macrocephaly, Micropht... |
OMIM:109400 |
| Holoprosencephaly 9 |
|
Abnormal cortical gyration, Alobar holoprosencephaly, Anophthalmia, Hypotelorism, Microcephaly, S... |
OMIM:610829 |
| Adams-Oliver Syndrome |
|
Periventricular leukomalacia, Encephalocele, Hydrocephalus, Microphthalmia, Porencephalic cyst |
ORPHA:974 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Abnormal brainstem morphology, Cerebellar atrophy, Hypoplasia of the pons |
ORPHA:300573 |
| Lennox-Gastaut Syndrome |
|
Abnormal brainstem morphology |
ORPHA:2382 |
| Autosomal Dominant Keratitis |
|
Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Coloboma, Hypopl... |
ORPHA:2334 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
| Witteveen-Kolk Syndrome |
|
Branchial fistula, Intrauterine growth retardation, Hypoplasia of the corpus callosum, Deeply set... |
OMIM:613406 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Sandestig-Stefanova Syndrome |
|
Intrauterine growth retardation, Hypoplasia of the corpus callosum, Short neck, Primary microceph... |
OMIM:618804 |
| Holoprosencephaly 2 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Proptosis, Chorioretinal coloboma, Hypotel... |
OMIM:157170 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Hypotelorism, Abnormality of neuronal migration, Microcephaly, Microphthalmia, Cyclopia, Holopros... |
ORPHA:3186 |
| Developmental And Epileptic Encephalopathy 1 |
|
Microcephaly, Global brain atrophy, Microphthalmia |
OMIM:308350 |
| Lymphatic Malformation 7 |
|
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... |
OMIM:617300 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Microcephaly, Intrauterine growth retardation, Deeply set eye |
OMIM:610756 |
| Kapur-Toriello Syndrome |
|
Polymicrogyria, Retinal coloboma, Intrauterine growth retardation, Low posterior hairline, Short ... |
OMIM:244300 |
| Japanese Encephalitis |
|
Abnormal midbrain morphology, Abnormal substantia nigra morphology, Pulmonary edema, Cerebral ede... |
ORPHA:79139 |
| Hydrolethalus Syndrome 1 |
|
Broad neck, Abnormal cortical gyration, Intrauterine growth retardation, Gray matter heterotopia,... |
OMIM:236680 |
| Meckel Syndrome, Type 1 |
|
Webbed neck, Cerebral hypoplasia, Iris coloboma, Natal tooth, Occipital encephalocele, Intrauteri... |
OMIM:249000 |
| Srd5A3-Cdg |
|
Coloboma, Optic disc hypoplasia |
ORPHA:324737 |
| Branchiooculofacial Syndrome |
|
Retinal coloboma, Intrauterine growth retardation, Branchial anomaly, Anophthalmia, Low posterior... |
OMIM:113620 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Natal tooth, Branchial cyst, Optic disc coloboma, Intrauterine growth retardation, Hypertelorism,... |
OMIM:620186 |
| Meckel Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the... |
ORPHA:564 |
| Cree Impaired Intellectual Development Syndrome |
|
Webbed neck, Coloboma, Hypertelorism |
OMIM:606851 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum... |
OMIM:206900 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Deeply set eye, Microcephaly, Short neck, Coloboma, Macrocephaly, Relative macrocephaly |
ORPHA:251028 |
| Charge Syndrome |
|
Webbed neck, Delayed eruption of teeth, Chorioretinal coloboma, Umbilical hernia, Intrauterine gr... |
ORPHA:138 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, C... |
OMIM:616449 |
| Cerebellar-Facial-Dental Syndrome |
|
Abnormal midbrain morphology, Inferior cerebellar vermis hypoplasia, Hypoplasia of the pons, Hypo... |
ORPHA:444072 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Absent septum pellucidum, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Hydrocephalus,... |
OMIM:309801 |
| Fanconi Anemia, Complementation Group D2 |
|
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Hypotelorism, Microcephaly, Prolo... |
OMIM:227646 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Vacterl With Hydrocephalus |
|
Intrauterine growth retardation, Anophthalmia, Hydrocephalus, Spina bifida, Microphthalmia, Aqued... |
ORPHA:3412 |
| Tubulinopathy-Associated Dysgyria |
|
Abnormal brainstem morphology, Hypoplasia of the pons, Cerebellar vermis hypoplasia |
ORPHA:467166 |
| Joubert Syndrome 5 |
|
Occipital encephalocele, Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Agenesi... |
OMIM:610188 |
| Micro Syndrome |
|
Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosu... |
ORPHA:2510 |
| Congenital Rubella Syndrome |
|
Microcephaly, Intrauterine growth retardation, Aplasia/Hypoplasia of the iris, Microphthalmia |
ORPHA:290 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Natal tooth, Stillbirth, Encephalocele, Cerebellar hypoplasia, Hypertelorism, Microphthalmia, Rel... |
OMIM:616300 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Warburg Micro Syndrome 4 |
|
Cerebral cortical atrophy, Secondary microcephaly, Hypoplasia of the corpus callosum, Deeply set ... |
OMIM:615663 |
| Gracile Bone Dysplasia |
|
Aniridia, Hydrocephalus, Microphthalmia |
OMIM:602361 |
| Seckel Syndrome 2 |
|
Basal ganglia calcification, Cerebellar hypoplasia, Microcephaly, Primary microcephaly, Microphth... |
OMIM:606744 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal cerebellum morpholo... |
ORPHA:68 |
| Ritscher-Schinzel Syndrome 3 |
|
Cerebellar vermis hypoplasia, Chorioretinal coloboma, Periventricular nodular heterotopia, Microp... |
OMIM:619135 |
| Arima Syndrome |
|
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Brainstem dysplasia, Dilated fourth ve... |
OMIM:243910 |
| Rere-Related Neurodevelopmental Syndrome |
|
Cerebellar vermis hypoplasia, Chorioretinal coloboma, Intrauterine growth retardation, Hypoplasia... |
ORPHA:494344 |
| Moebius Syndrome |
|
Microphthalmia, Short neck, Hypertelorism, Hypoplasia of the brainstem |
OMIM:157900 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos, Polymicrogyria, Intrauterine growth retardation, Deeply set eye, Cerebe... |
OMIM:610758 |
| Mosaic Trisomy 1 |
|
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Polymicrogyria, Increased nuchal tran... |
ORPHA:1692 |
| Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
| 3Q29 Microduplication Syndrome |
|
Aniridia, Microcephaly, Short neck, Biparietal narrowing, Macrocephaly, Microphthalmia, Iris colo... |
ORPHA:251038 |
| Heart And Brain Malformation Syndrome |
|
Cerebellar vermis hypoplasia, Global brain atrophy, Cerebral atrophy, Hypoplasia of the corpus ca... |
OMIM:616920 |
| Bohring-Opitz Syndrome |
|
Proptosis, Intrauterine growth retardation, Hypoplasia of the corpus callosum, Agenesis of corpus... |
ORPHA:97297 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Absent mesencephalon, Aprosencephaly, Cerebellar dysplasia, Poorly formed metencephalon |
OMIM:601374 |
| Familial Multiple Lipomatosis |
|
Cerebral calcification, Premature eruption of permanent teeth, Hypoplasia of the corpus callosum,... |
ORPHA:199276 |
| Microphthalmia, Syndromic 8 |
|
Microcephaly, Microphthalmia |
OMIM:601349 |
| Microphthalmia, Lenz Type |
|
Webbed neck, Delayed eruption of teeth, Chorioretinal coloboma, Aplasia/Hypoplasia of the corpus ... |
ORPHA:568 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
| Fanconi Anemia, Complementation Group L |
|
Webbed neck, Intrauterine growth retardation, Cerebellar hypoplasia, Short neck, Hydrocephalus, H... |
OMIM:614083 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cranium bifidum occultum, Pericallosal lipoma, Agenesis of corpus callosum, Microphthalmia, Hyper... |
ORPHA:306542 |
| Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Cerebellar vermis hypoplasia, Hypoplastic anterior commissure, Hypoplasia of the pons, Intrauteri... |
OMIM:616975 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia, Hypertelorism |
ORPHA:1135 |
| Hallermann-Streiff Syndrome |
|
Natal tooth, Chorioretinal coloboma, Optic disc coloboma, Microcephaly, Spina bifida, Microphthal... |
OMIM:234100 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Branchial anomaly, Anophthalmia, Agenesis of corpus callosum, Hydrocepha... |
OMIM:164210 |
| Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Umbilical hernia, Calcification of falx cerebri, Short neck, Hydroceph... |
ORPHA:77301 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Inferior cerebellar vermis hypoplasia, Retinal coloboma, Short neck, Microphthalmia, Hypertelorism |
OMIM:618571 |
| Warburg Micro Syndrome 2 |
|
Global brain atrophy, Polymicrogyria, Secondary microcephaly, Hypoplasia of the corpus callosum, ... |
OMIM:614225 |
| Spinocerebellar Ataxia Type 1 |
|
Loss of Purkinje cells in the cerebellar vermis, Abnormal brainstem morphology, Cerebellar atroph... |
ORPHA:98755 |
| Fanconi Anemia |
|
Hypospadias, Abnormality of the uterus, Hypogonadism, Intrauterine growth retardation, Azoospermi... |
ORPHA:84 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia, Short neck, Hypertelorism |
ORPHA:163649 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Cerebral cortical atrophy, Partial agenesis of the corpus callosum, Microcephaly, Microphthalmia |
OMIM:234050 |
| Galloway-Mowat Syndrome 3 |
|
Cerebral atrophy, Intrauterine growth retardation, Microphthalmia, Hypoplasia of the corpus callo... |
OMIM:617729 |
| Iniencephaly |
|
Spinal dysraphism, Myelomeningocele, Encephalocele, Spina bifida, Dandy-Walker malformation, Hydr... |
ORPHA:63259 |
| Otodental Syndrome |
|
Delayed eruption of teeth, Retinal coloboma, Microphthalmia, Lens coloboma, Iris coloboma |
ORPHA:2791 |
| Mend Syndrome |
|
Long neck, Hypoplasia of the corpus callosum, Hydrocephalus, Thickened nuchal skin fold, Micropht... |
ORPHA:401973 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia, Microcephaly, Simplified gyral pattern |
OMIM:152950 |
| Acrocallosal Syndrome |
|
Umbilical hernia, Aplasia/Hypoplasia of the corpus callosum, Persistence of primary teeth, Agenes... |
OMIM:200990 |
| Oculoauricular Syndrome |
|
Chorioretinal coloboma, Retinal coloboma, Macular hypoplasia, Phthisis bulbi, Microphakia, Microp... |
OMIM:612109 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Short neck, Hypertelorism, Bilateral microphthalmos, Umbilical hernia |
ORPHA:369891 |
| Duane-Radial Ray Syndrome |
|
Iris coloboma, Optic disc hypoplasia, Retinal coloboma, Microphthalmia, Spina bifida occulta, Hyp... |
OMIM:607323 |
| Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Cerebellar cyst, Abnormal brainstem morphology, Abnormal pons morphology, Cerebellar vermis hypop... |
ORPHA:370997 |
| 17Q12 Microduplication Syndrome |
|
Microphthalmia, Cortical dysplasia, Deeply set eye |
ORPHA:261272 |
| Fryns Syndrome |
|
Cerebral cortical atrophy, Agenesis of corpus callosum, Short neck, Thickened nuchal skin fold, M... |
ORPHA:2059 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Hypoplasia of the corpus callosum, Microcephaly, Short neck, Hypertelorism, Microphthalmia, Dandy... |
OMIM:156610 |
| Warburg Micro Syndrome 3 |
|
Cerebral cortical atrophy, Polymicrogyria, Secondary microcephaly, Hypoplasia of the corpus callo... |
OMIM:614222 |
| Joubert Syndrome 17 |
|
Molar tooth sign on MRI |
OMIM:614615 |
| Trichothiodystrophy 3, Photosensitive |
|
Intrauterine growth retardation, Natal tooth, Hypotelorism, Microphthalmia |
OMIM:616395 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Lateral ventricle dilatation, Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesis of co... |
ORPHA:464738 |
| Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Microcephaly, Hypertelorism |
OMIM:617883 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Delayed eruption of primary teeth, Microphthalmia, Lateral ventricle dilatation, Agenesis of corp... |
OMIM:300952 |
| Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Azoospermia, Micropenis, Short stature, Patent ductus arteriosus, Hypergonadotropic hypogonadism |
OMIM:602782 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Microphthalmia, Posterior lentic... |
ORPHA:231736 |
| Galloway-Mowat Syndrome 1 |
|
Cerebral atrophy, Hypoplasia of the brainstem, Secondary microcephaly, Hypoplasia of the iris, In... |
OMIM:251300 |
| Proboscis Lateralis |
|
Abnormal corpus callosum morphology, Proptosis, Chorioretinal coloboma, Optic disc coloboma, Anop... |
ORPHA:141099 |
| Braddock-Carey Syndrome 2 |
|
Microcephaly, Microphthalmia |
OMIM:619981 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Intrauterine growth retardation, Increased nuchal tran... |
ORPHA:1052 |
| Joubert Syndrome 38 |
|
Cerebellar vermis hypoplasia, Inferior cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:619476 |
| Rubinstein-Taybi Syndrome 1 |
|
Proptosis, Agenesis of corpus callosum, Low posterior hairline, Hyperintensity of cerebral white ... |
OMIM:180849 |
| Microphthalmia, Syndromic 5 |
|
Microphthalmia, Coloboma, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
| Focal Dermal Hypoplasia |
|
Chorioretinal coloboma, Umbilical hernia, Hypoplasia of the iris, Spina bifida, Microphthalmia, I... |
ORPHA:2092 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Short neck, Microphthalmia |
ORPHA:3191 |
| Anterior Segment Dysgenesis 2 |
|
Aniridia, Congenital aphakia, Coloboma, Anterior segment of eye aplasia, Microphthalmia |
OMIM:610256 |
| Frontofacionasal Dysplasia |
|
Microphthalmia, Cranium bifidum occultum, Iris coloboma, Hypertelorism |
OMIM:229400 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Macrocephaly, Deeply set eye, Microcephaly, Microphthalmia, Hypertelorism |
OMIM:620098 |
| Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly |
ORPHA:63260 |
| Roberts-Sc Phocomelia Syndrome |
|
Proptosis, Stillbirth, Microcephaly, Short neck, Coloboma, Shallow orbits, Hydrocephalus, Frontal... |
OMIM:268300 |
| Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Occipital meningocele, Molar tooth sign on MRI |
OMIM:277170 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypoplasia of the corpus callosum, Deeply set eye, Microcephaly, Severe intrauterine growth retar... |
OMIM:241410 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Proptosis, Chorioretinal coloboma, Intrauterine growth retardation, Deeply set eye, Microcephaly,... |
OMIM:619475 |
| Steinfeld Syndrome |
|
Microphthalmia, Holoprosencephaly, Iris coloboma, Retinal coloboma |
OMIM:184705 |
| Fanconi Anemia, Complementation Group J |
|
Intrauterine growth retardation, Microphthalmia |
OMIM:609054 |
| Microphthalmia/Coloboma 9 |
|
Microphthalmia, Iris coloboma, Macular coloboma, Hypertelorism |
OMIM:615145 |
| Adams-Oliver Syndrome 1 |
|
Polymicrogyria, Periventricular leukomalacia, Encephalocele, Hypoplasia of the corpus callosum, M... |
OMIM:100300 |
| Semilobar Holoprosencephaly |
|
Hypotelorism, Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Macrocephaly, Cyclopia, N... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Hypotelorism, Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Macrocephaly, Cyclopia, N... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Hypotelorism, Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Macrocephaly, Cyclopia, N... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Hypotelorism, Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Macrocephaly, Cyclopia, N... |
ORPHA:93924 |
| Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Optic disc coloboma, Chorioretinal coloboma, Coloboma, Hypertelorism, Micr... |
ORPHA:959 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia, Microcephaly, Umbilical hernia |
ORPHA:2505 |
| Familial Acute Necrotizing Encephalopathy |
|
Cerebral edema, Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology |
ORPHA:88619 |
| Myoclonic-Astatic Epilepsy |
|
Microcephaly, Microphthalmia |
ORPHA:1942 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Retinal coloboma |
ORPHA:363741 |
| Microphthalmia, Isolated 8 |
|
Retinal coloboma, True anophthalmia, Anophthalmia, Microphthalmia, Optic nerve hypoplasia |
OMIM:615113 |
| Kabuki Syndrome |
|
Hydrocephalus, Cerebral cortical atrophy, Coloboma, Microcephaly |
ORPHA:2322 |
| Aicardi Syndrome |
|
Chorioretinal coloboma, Polymicrogyria, Optic disc coloboma, Microcephaly, Aplasia/Hypoplasia of ... |
ORPHA:50 |
| Branchio-Oculo-Facial Syndrome |
|
Intrauterine growth retardation, Coloboma, Iris coloboma |
ORPHA:1297 |
| Momo Syndrome |
|
Delayed eruption of teeth, Chorioretinal coloboma, Bilateral microphthalmos, Macrocephaly, Short ... |
ORPHA:2563 |
| Cockayne Syndrome B |
|
Cerebral atrophy, Hypoplasia of the iris, Basal ganglia calcification, Intrauterine growth retard... |
OMIM:133540 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia |
ORPHA:2788 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia, Hypertelorism |
OMIM:613456 |
| Orofaciodigital Syndrome Xvi |
|
Molar tooth sign on MRI |
OMIM:617563 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Cerebellar hypoplasia, Microphthalmia |
OMIM:618805 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Hypogonadism, Weight loss, Oligozoospermia, Abnormal testis morphology, Primary testicular failur... |
ORPHA:85450 |
| Fetal Alcohol Syndrome |
|
Microcephaly, Intrauterine growth retardation, Biparietal narrowing, Microphthalmia |
ORPHA:1915 |
| Charge Syndrome |
|
Webbed neck, Umbilical hernia, Retinal coloboma, Unilateral microphthalmos, Anophthalmia, Microce... |
OMIM:214800 |
| Fontaine Progeroid Syndrome |
|
Cerebellar vermis hypoplasia, Proptosis, Umbilical hernia, Intrauterine growth retardation, Periv... |
OMIM:612289 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Coloboma, Anophthalmia, Macrocephaly |
OMIM:615877 |
| Yunis-Varon Syndrome |
|
Proptosis, Bilateral microphthalmos, Increased nuchal translucency, Microphthalmia, Redundant nec... |
ORPHA:3472 |
| Oculofaciocardiodental Syndrome |
|
Iris coloboma, Delayed eruption of teeth, Microphthalmia |
ORPHA:2712 |
| Monosomy 9P |
|
Webbed neck, Agenesis of corpus callosum, Low posterior hairline, Microcephaly, Short neck, Hyper... |
ORPHA:261112 |
| Incontinentia Pigmenti |
|
Cerebral cortical atrophy, Delayed eruption of teeth, Umbilical hernia, Eosinophilia, Microphthal... |
ORPHA:464 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Cryptorchidism, Short stature, Small for gestational age, Hypergonadotropic hyp... |
OMIM:227650 |
| Cat Eye Syndrome |
|
Iris coloboma, Chorioretinal coloboma, Umbilical hernia, Microphthalmia, Hypertelorism |
OMIM:115470 |
| Pallister-Hall Syndrome |
|
Natal tooth, Intrauterine growth retardation, Neonatal death, Microphthalmia, Holoprosencephaly |
OMIM:146510 |
| Focal Dermal Hypoplasia |
|
Delayed eruption of teeth, Chorioretinal coloboma, Umbilical hernia, Myelomeningocele, Aniridia, ... |
OMIM:305600 |
| Trichothiodystrophy |
|
Cerebral cortical atrophy, Bilateral microphthalmos, Umbilical hernia, Intrauterine growth retard... |
ORPHA:33364 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Iris coloboma, Chorioretinal coloboma, Microphthalmia |
OMIM:212550 |
| Martsolf Syndrome 1 |
|
Low posterior hairline, Microcephaly, Periventricular white matter hyperintensities, Microphthalmia |
OMIM:212720 |
| Premature Aging Syndrome, Penttinen Type |
|
Proptosis, Delayed eruption of teeth, Macrocephaly, Hypotelorism, Shallow orbits, Hypertelorism, ... |
OMIM:601812 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hemimegalencephaly, Coloboma |
OMIM:163200 |
| 8Q21.11 Microdeletion Syndrome |
|
Microphthalmia, Short neck, Hypertelorism, Aplasia/Hypoplasia of the corpus callosum |
ORPHA:284160 |
| Cerebellofaciodental Syndrome |
|
Cerebellar hypoplasia, Hypoplasia of the pons, Hypoplasia of the midbrain |
OMIM:616202 |
| Histiocytoid Cardiomyopathy |
|
Microphthalmia, Congenital aphakia, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:137675 |
| Fanconi Anemia, Complementation Group N |
|
Microphthalmia, Microcephaly, Short neck, Hypertelorism |
OMIM:610832 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal cortical gyration, Absent septum pellucidum, Anophthalmia, Congenital muscular torticoll... |
ORPHA:2538 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia |
ORPHA:2547 |
| Phace Syndrome |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Microphthalmia, Lens coloboma, ... |
ORPHA:42775 |
| Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
ORPHA:2754 |
| Marcus-Gunn Syndrome |
|
Coloboma |
ORPHA:91412 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia, Short neck, Hypoplasia of the corpus callosum, Hypertelorism |
OMIM:614230 |
| Oculo-Palato-Cerebral Syndrome |
|
Global brain atrophy, Aplasia/Hypoplasia of the corpus callosum, Intrauterine growth retardation,... |
ORPHA:2714 |
| Sacral Defect With Anterior Meningocele |
|
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract |
OMIM:600145 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus |
ORPHA:2720 |
| Fryns Syndrome |
|
Broad neck, Hypoplasia of the optic tract, Stillbirth, Hypoplasia of olfactory tract, Agenesis of... |
OMIM:229850 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Polymicrogyria, Unilateral microphthalmos, Microcephaly, Macrocephaly, Iris coloboma |
OMIM:618874 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cachexia, Delayed puberty, Azoospermia, Growth delay |
ORPHA:2072 |
| Garg-Mishra Progeroid Syndrome |
|
Secondary microcephaly, Microphthalmia |
OMIM:620601 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Coloboma, Microphthalmia |
ORPHA:85167 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Failure to thrive, Azoospermia, Cryptorchidism, Delayed puberty, Short stature |
ORPHA:534 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia, Microcephaly, Iris coloboma, Hypertelorism |
ORPHA:1236 |
| Linear Nevus Sebaceus Syndrome |
|
Iris coloboma, Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification, Aplasia/Hypopla... |
ORPHA:2612 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hypotelorism, Microphthalmia |
OMIM:619053 |
| Microphthalmia/Coloboma 12 |
|
Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula... |
OMIM:120200 |
| Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia, Deeply set eye |
OMIM:614526 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microphthalmia, Delayed eruption of teeth, Deeply set eye |
OMIM:257850 |
| Thauvin-Robinet-Faivre Syndrome |
|
Retinal coloboma, Macrocephaly, Deeply set eye, Coloboma, Hypertelorism |
OMIM:617107 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia, Deeply set eye |
OMIM:305390 |
| Cohen Syndrome |
|
Microcephaly, Intrauterine growth retardation, Iris coloboma, Microphthalmia |
ORPHA:193 |
| Fraser Syndrome 1 |
|
Abnormal cortical gyration, Bilateral microphthalmos, Myelomeningocele, Encephalocele, Anophthalm... |
OMIM:219000 |
| Oculopalatocerebral Syndrome |
|
Microcephaly, Remnants of the hyaloid vascular system, Microphthalmia |
OMIM:257910 |
| 22Q11.2 Deletion Syndrome |
|
Umbilical hernia, Intrauterine growth retardation, Microcephaly, Short neck, Spina bifida, Hydroc... |
ORPHA:567 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Hypoplasia of the iris, Intrauterine growth retardation, Microcephaly,... |
OMIM:223370 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia |
ORPHA:404440 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microcephaly, Intrauterine growth retardation, Microphthalmia |
ORPHA:2728 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Dysgenesis of the cerebellar vermis, Molar tooth sign on MRI |
OMIM:619479 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Absent septum pellucidum, Anophthalmia, Agenesis of corpus callosum, Microcephaly, Hydrocephalus,... |
ORPHA:2556 |
| 3P25.3 Microdeletion Syndrome |
|
Cerebral white matter atrophy, Microphthalmia |
ORPHA:435638 |
| Microphthalmia, Syndromic 16 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microcephaly, Intrauterine growth retardation, Microphthalmia |
ORPHA:1352 |
| Familial Exudative Vitreoretinopathy |
|
Microcephaly, Microphthalmia |
ORPHA:891 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Iris coloboma, Microphthalmia |
OMIM:269400 |
| Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
| Ciliary Dyskinesia, Primary, 1 |
|
Absent outer dynein arms, Male infertility |
OMIM:244400 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal corpus callosum morphology, Natal tooth, Secondary microcephaly, Intrauterine growth ret... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal corpus callosum morphology, Natal tooth, Secondary microcephaly, Intrauterine growth ret... |
ORPHA:353277 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Short neck, Dandy-Walker malformation, Microphthalmia |
OMIM:302960 |
| Orofaciodigital Syndrome Xiv |
|
Cerebellar vermis hypoplasia, Occipital encephalocele, Cerebellar hypoplasia, Molar tooth sign on... |
OMIM:615948 |
| Mowat-Wilson Syndrome |
|
Abnormal corpus callosum morphology, Aplasia/Hypoplasia of the cerebral white matter, Iris colobo... |
OMIM:235730 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Cerebellar hypoplasia, Abnormal brainstem morphology, Intrauterine growth retardation, Cerebellar... |
OMIM:301310 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Microcephaly, Intrauterine growth retardation, Hypertelorism |
ORPHA:364577 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia, Hypertelorism |
ORPHA:35173 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris |
OMIM:604229 |
| Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
| Wilson Disease |
|
Ascites, Face of the giant panda sign, Edema, Pedal edema |
OMIM:277900 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos, Macrocephaly |
OMIM:615085 |
| Fanconi Anemia, Complementation Group C |
|
Microcephaly, Intrauterine growth retardation, Prolonged G2 phase of cell cycle, Microphthalmia |
OMIM:227645 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Frontotemporal cerebral atrophy, Lateral ventricle dilatation, Deeply set eye, Neonatal death, Co... |
OMIM:619534 |
| Microphthalmia With Limb Anomalies |
|
Anophthalmia, Microphthalmia |
OMIM:206920 |
| Congenital Primary Aphakia |
|
Optic disc coloboma, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phth... |
ORPHA:83461 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia, Coloboma, Hypertelorism |
OMIM:603457 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of the olfactory bulb, Failure of eruption of permanent teeth, Anophthalmia, Microphth... |
ORPHA:2250 |
| Fanconi Anemia, Complementation Group E |
|
Microcephaly, Prolonged G2 phase of cell cycle, Microphthalmia |
OMIM:600901 |
| Pierson Syndrome |
|
Hypoplasia of the iris, Rieger anomaly, Microcephaly, Hypoplasia of the ciliary body, Progressive... |
OMIM:609049 |
| Fraser Syndrome |
|
Umbilical hernia, Myelomeningocele, Encephalocele, Anophthalmia, Microcephaly, Hypertelorism, Mic... |
ORPHA:2052 |
| Roberts Syndrome |
|
Proptosis, Microcephaly, Short neck, Severe intrauterine growth retardation, Hypertelorism, Micro... |
ORPHA:3103 |
| Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Umbilical hernia, Persistence of primary teeth, Anophthalmia, Hypoplas... |
OMIM:300166 |
| Incontinentia Pigmenti |
|
Delayed eruption of teeth, Hypoplasia of the fovea, Microcephaly, Eosinophilia, Microphthalmia |
OMIM:308300 |
| Myhre Syndrome |
|
Intrauterine growth retardation, Deeply set eye, Microcephaly, Short neck, Macrocephaly, Micropht... |
OMIM:139210 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Broad neck, Hypoplasia of the corpus callosum, Microcephaly, Short neck, Hypertelorism, Microphth... |
OMIM:616734 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Neonatal death, Low posterior hairline, Short neck, Hypertelorism, Microphthalmia |
OMIM:617925 |
| 3Q29 Microdeletion Syndrome |
|
Microphthalmia, Microcephaly, Macrocephaly |
ORPHA:65286 |
| Persistent Hyperplastic Primary Vitreous |
|
Hyaloid vascular remnant and retrolental mass, Macular hypoplasia, Phthisis bulbi, Remnants of th... |
ORPHA:91495 |
| Gangliocytoma |
|
Abnormal brainstem morphology, Abnormal cerebellum morphology |
ORPHA:251937 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Microphthalmia |
OMIM:301108 |
| Familial Cerebral Saccular Aneurysm |
|
Abnormal brainstem morphology |
ORPHA:231160 |
| Trichothiodystrophy 1, Photosensitive |
|
Microcephaly, Microphthalmia |
OMIM:601675 |
| Refsum Disease |
|
Microphthalmia |
ORPHA:773 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| Renpenning Syndrome 1 |
|
Microcephaly, Coloboma, Cerebral atrophy, Microphthalmia |
OMIM:309500 |
| Schinzel-Giedion Syndrome |
|
Cerebral cortical atrophy, Proptosis, Delayed eruption of teeth, Umbilical hernia, Hypoplasia of ... |
ORPHA:798 |
| Atelis Syndrome 2 |
|
Microcephaly, Remnants of the hyaloid vascular system, Microphthalmia |
OMIM:620185 |
| Congenital Fibrinogen Deficiency |
|
Microphthalmia |
ORPHA:335 |
| Fanconi Anemia, Complementation Group F |
|
Microcephaly, Intrauterine growth retardation, Microphthalmia |
OMIM:603467 |
| Teebi-Shaltout Syndrome |
|
Microphthalmia, Microcephaly, Hypertelorism |
OMIM:272950 |
| Degcags Syndrome |
|
Proptosis, Intrauterine growth retardation, Hypotelorism, Agenesis of corpus callosum, Low poster... |
OMIM:619488 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Basal ganglia calcification, Microcephaly, Microphthalmia |
OMIM:610651 |
| Papillorenal Syndrome |
|
Microphthalmia, Optic disc coloboma, Retinal coloboma |
OMIM:120330 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Persistence of primary teeth, Microphthalmia |
OMIM:618727 |
| Neuroocular Syndrome 1 |
|
Umbilical hernia, Periventricular leukomalacia, Deeply set eye, Hypoplasia of the fovea, Microcep... |
OMIM:619539 |
| Matthew-Wood Syndrome |
|
Intrauterine growth retardation, Anophthalmia, Microphthalmia |
ORPHA:2470 |
| Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia, Hypertelorism |
ORPHA:2717 |
| Microphthalmia With Limb Anomalies |
|
True anophthalmia, Hydrocephalus, Microphthalmia |
ORPHA:1106 |
| Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
| Hallermann-Streiff Syndrome |
|
Cerebellar hypoplasia, Microcephaly, Natal tooth, Microphthalmia |
ORPHA:2108 |
| Microphthalmia, Syndromic 6 |
|
Cerebral cortical atrophy, Inferior cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpu... |
OMIM:607932 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Microcephaly, Short neck, Torticollis, Microphthalmia, Hypertelorism |
OMIM:609945 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Phthisis bulbi, Remnants of the hyaloid vascular system, Microphthalmia, Buphthalmos, Iris coloboma |
OMIM:221900 |
| Cockayne Syndrome |
|
Cerebral atrophy, Basal ganglia calcification, Cerebral calcification, Subcortical white matter c... |
ORPHA:191 |
| Lymphedema-Distichiasis Syndrome |
|
Cystic hygroma, Webbed neck, Microphthalmia |
OMIM:153400 |
| Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| Ohdo Syndrome, X-Linked |
|
Microphthalmia, Hypertelorism |
OMIM:300895 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Abnormal corpus callosum morphology, Cerebellar vermis hypoplasia, Iris coloboma, Delayed eruptio... |
ORPHA:261537 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Abnormal midbrain morphology |
ORPHA:293987 |
| Pallister-Hall Syndrome |
|
Abnormal corpus callosum morphology, Natal tooth, Umbilical hernia, Intrauterine growth retardati... |
ORPHA:672 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia, Hypertelorism |
OMIM:248450 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Microcephaly, Microphthalmia |
OMIM:278730 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Bilateral microphthalmos, Postnatal macrocephaly, Basal ganglia calcification, Persistence of pri... |
ORPHA:93325 |
| Bartsocas-Papas Syndrome 1 |
|
Microphthalmia, Intrauterine growth retardation, Short neck, Hypertelorism |
OMIM:263650 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Coloboma |
OMIM:618183 |
| Cockayne Syndrome Type 3 |
|
Basal ganglia calcification, Subcortical white matter calcifications, Deeply set eye, Cerebral wh... |
ORPHA:90324 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Microphthalmia, Delayed eruption of teeth, Hypertelorism |
OMIM:268400 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Leukoencephalopathy, Focal cortical dysplasia, Hypoplasia of the iris, Ischemic stroke, Schizence... |
OMIM:175780 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Secondary microcephaly, Coloboma, Natal tooth |
ORPHA:353281 |
| Esophageal Atresia |
|
Coloboma |
ORPHA:1199 |
| Cystinosis, Nephropathic |
|
Male hypogonadism, Failure to thrive, Failure to thrive in infancy, Weight loss, Delayed puberty,... |
OMIM:219800 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
| Oculodentodigital Dysplasia |
|
Basal ganglia calcification, Abnormal cerebral white matter morphology, Microcephaly, Microphthalmia |
OMIM:164200 |
| Cystic Fibrosis |
|
Decreased body mass index, Absent vas deferens, Failure to thrive, Male infertility |
ORPHA:586 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microcephaly, Microphthalmia |
OMIM:110100 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia, Microcephaly, Intrauterine growth retardation, Hypertelorism |
OMIM:608670 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Hypoplastic anterior commissure, Lateral ventricle dilatation, Secondary microcephaly, Hypoplasia... |
ORPHA:261552 |
| Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Dandy-Walker malformation, Molar tooth sign on MRI |
ORPHA:434179 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Optic disc coloboma, Microphthalmia |
OMIM:608940 |
| Tetraamelia Syndrome 1 |
|
Hydrocephalus, Microphthalmia |
OMIM:273395 |
| Noonan Syndrome 1 |
|
Failure to thrive in infancy, Postnatal growth retardation, Hypogonadism, Cryptorchidism, Short s... |
OMIM:163950 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Polyhydramnios, Abnormal brainstem morphology, Intrauterine growth retardation, Oligohydramnios |
ORPHA:464311 |
| Cystic Fibrosis |
|
Failure to thrive, Male infertility |
OMIM:219700 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Hypotelorism, Deeply set eye, Microcephaly, Short neck, Hypertelorism, Microphthalmia |
OMIM:612474 |
| Phace Association |
|
Cerebellar hypoplasia, Microphthalmia, Dandy-Walker malformation, Optic nerve hypoplasia |
OMIM:606519 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Microcephaly, Intrauterine growth retardation, Microphthalmia |
OMIM:620005 |
| Microphthalmia, Syndromic 9 |
|
Intrauterine growth retardation, Anophthalmia, Bilateral microphthalmos, Neonatal death |
OMIM:601186 |
| Mowat-Wilson Syndrome |
|
Cerebellar vermis hypoplasia, Iris coloboma, Focal cortical dysplasia, Delayed eruption of teeth,... |
ORPHA:2152 |
| Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
| Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia, Hypertelorism |
OMIM:201180 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Diffuse cerebellar atrophy, Abnormal brainstem morphology |
ORPHA:93256 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microcephaly, Anophthalmia, Microphthalmia |
ORPHA:2526 |
| Norrie Disease |
|
Cerebral cortical atrophy, Hypoplasia of the iris, Hypotelorism, Deeply set eye, Microcephaly, Ap... |
ORPHA:649 |
| Fraser Syndrome 2 |
|
Short neck, Microphthalmia |
OMIM:617666 |
| Norrie Disease |
|
Hypoplasia of the iris, Buphthalmos, Microphthalmia |
OMIM:310600 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia, Basal ganglia calcification, Macrocephaly |
OMIM:127000 |
| Isolated Arrhinia |
|
Microphthalmia, Hypertelorism |
ORPHA:1134 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Phthisis bulbi, Microcephaly, Microphthalmia |
OMIM:259770 |
| Proximal Renal Tubular Acidosis |
|
Coloboma |
ORPHA:47159 |
| Townes-Brocks Syndrome |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma, Agenesis of corpus callosum |
ORPHA:857 |
| Traboulsi Syndrome |
|
Microphthalmia |
OMIM:601552 |
| Microphthalmia, Syndromic 1 |
|
Webbed neck, Optic disc coloboma, Chorioretinal coloboma, Ciliary body coloboma, Anophthalmia, Mi... |
OMIM:309800 |
| Lowe Oculocerebrorenal Syndrome |
|
Periventricular cysts, Microphthalmia |
OMIM:309000 |
| Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos |
OMIM:154500 |
