Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Autism, Susceptibility To, X-Linked 4 |
|
Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior |
OMIM:300830 |
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder |
OMIM:613003 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Compulsive behaviors |
OMIM:618830 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder |
OMIM:607417 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Macular hypoplasia, Blue irides, Albinism |
OMIM:606574 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Aganglionic megacolon, Blue irides, Hypopigmented skin patches, P... |
OMIM:613265 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Nanophthalmos |
|
Microphthalmia, Abnormality of retinal pigmentation |
ORPHA:35612 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Oculocutaneous Albinism, Type Viii |
|
Hypoplasia of the fovea, Iris transillumination defect, Hypopigmentation of hair, Hypopigmentatio... |
OMIM:619165 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia, Abnormality of retinal pigmentation |
ORPHA:1574 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin patches, Premature graying of... |
ORPHA:895 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Albinism, Oculocutaneous, Type Ii |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ... |
OMIM:203200 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Albinism, Oculocutaneous, Type Vi |
|
Hypoplasia of the fovea, Generalized hypopigmentation, Fair hair |
OMIM:113750 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:607624 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Abnormal eyelash mo... |
ORPHA:2885 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Median cleft palate |
ORPHA:2432 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... |
OMIM:619079 |
Vascular Hyalinosis |
|
Premature graying of hair, Protein-losing enteropathy, Hematochezia, Malabsorption |
OMIM:277175 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Premature graying of hair, Hypopigmentat... |
ORPHA:33445 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Aganglionic megacolon, Blue irides, Hypopigmented skin patches, P... |
OMIM:277580 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia, Cleft palate |
OMIM:600251 |
Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:239500 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:605899 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior |
OMIM:301107 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia, Intestinal malrotation, Cleft palate |
OMIM:615524 |
Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Alopecia, Malabsorption |
ORPHA:100025 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Adams-Oliver Syndrome 4 |
|
Hypoplastic toenails, Microphthalmia, Toenail dysplasia |
OMIM:615297 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Cleft palate |
OMIM:616570 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Aganglionic megacolon, Piebaldism, Wh... |
OMIM:172800 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Steatorrhea |
OMIM:613291 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Bilateral cleft lip and palate |
OMIM:600776 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia, High palate |
ORPHA:2528 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Cleft palate |
OMIM:120433 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Aganglionic megacolon, Synophrys, Pieba... |
ORPHA:2884 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
Oculotrichoanal Syndrome |
|
Anal stenosis, Anophthalmia, Abnormal hair pattern, Anteriorly placed anus, Microphthalmia |
ORPHA:2717 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Tracheoesophageal fistula, Duoden... |
OMIM:601346 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Fanconi Anemia, Complementation Group J |
|
Multiple cafe-au-lait spots, Microphthalmia |
OMIM:609054 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... |
ORPHA:103907 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Aganglionic megacolon, Abnormal hair mo... |
ORPHA:894 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Alopecia, Anophthalmia, Cleft palate |
OMIM:164180 |
Fanconi Anemia, Complementation Group G |
|
Multiple cafe-au-lait spots, Microphthalmia |
OMIM:614082 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... |
ORPHA:263665 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia, Anal atresia |
ORPHA:3469 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Anal atresia, Bilateral microphthalmos, Unilateral microphthalmos, Hirsutism |
OMIM:619318 |
17Q12 Microduplication Syndrome |
|
Microphthalmia, Synophrys, Tracheoesophageal fistula, Cleft palate |
ORPHA:261272 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... |
OMIM:615237 |
Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
Duodenal Ulcer, Hyperpepsinogenemic I |
|
Duodenal ulcer |
OMIM:126850 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Woolly hair, Nail dyst... |
OMIM:234050 |
Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
Mitchell-Riley Syndrome |
|
Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anus, Acholic stools, M... |
OMIM:615710 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E... |
OMIM:243150 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Protein-losing enteropathy |
OMIM:615863 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
Frontonasal Dysplasia 3 |
|
Microphthalmia, Absent eyebrow, Sparse eyelashes, Cleft palate |
OMIM:613456 |
Waardenburg Syndrome |
|
Abnormality of the gastrointestinal tract, Abnormal eyebrow morphology, Hypopigmentation of hair,... |
ORPHA:3440 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Microphthalmia, Isolated 5 |
|
Microphthalmia, Bone spicule pigmentation of the retina |
OMIM:611040 |
Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Duodenal ulcer |
ORPHA:3350 |
Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
|
Duodenal ulcer |
OMIM:126840 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Duodenal atresia, Intestinal atresia |
ORPHA:3405 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia, Cleft palate |
ORPHA:1617 |
Cat-Eye Syndrome |
|
Microphthalmia, Anal atresia |
ORPHA:195 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of skin pigmentation, Microphthalmia, Abnormality of retinal pigmentation |
OMIM:251270 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Duodenal stenosis |
ORPHA:2547 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia, Cleft palate |
OMIM:614402 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing entero... |
OMIM:175500 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Brittle hair, Trichoschisis, Freckling, Malabsorption, Fine hair, Fragile... |
OMIM:601675 |
Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris... |
ORPHA:352731 |
Cofs Syndrome |
|
Microphthalmia, Abnormality of retinal pigmentation |
ORPHA:1466 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior |
OMIM:615516 |
Warburg Micro Syndrome 1 |
|
Facial hypertrichosis, Microphthalmia, Hypertrichosis |
OMIM:600118 |
Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Macroglossia, Glossitis, Genera... |
ORPHA:2221 |
Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... |
ORPHA:79432 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... |
ORPHA:3437 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Curry-Jones Syndrome |
|
Microphthalmia, Hypopigmented skin patches, Generalized hirsutism, Intestinal malrotation |
ORPHA:1553 |
Rodrigues Blindness |
|
Sparse hair, Microphthalmia, Fine hair |
OMIM:268320 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Hypertrichosis, Tracheoesophageal fistula, Low p... |
OMIM:619227 |
Trichothiodystrophy 3, Photosensitive |
|
Brittle hair, Pyloric stenosis, Microphthalmia, Tiger tail banding, Meckel diverticulum, Trichorr... |
OMIM:616395 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... |
ORPHA:329971 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia, High palate, Cleft palate |
ORPHA:1135 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia |
OMIM:616171 |
Manitoba Oculotrichoanal Syndrome |
|
Anal stenosis, Anophthalmia, Anteriorly placed anus, Microphthalmia, Abnormality of the hairline |
OMIM:248450 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
Seckel Syndrome 2 |
|
Few cafe-au-lait spots, Microphthalmia, Microglossia |
OMIM:606744 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Bresek Syndrome |
|
Alopecia, Aganglionic megacolon, Optic nerve hypoplasia, Cleft palate, Microphthalmia |
ORPHA:85284 |
Biemond Syndrome Type 2 |
|
Microphthalmia |
ORPHA:141333 |
Pierpont Syndrome |
|
Microphthalmia, High anterior hairline |
ORPHA:487825 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos, Thick eyebrow |
OMIM:301018 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Duodenal Atresia |
|
Duodenal atresia |
ORPHA:1203 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Nail dystrophy, Highly arched eyebrow |
OMIM:300887 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177910 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia, Cleft palate |
OMIM:601349 |
Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigm... |
ORPHA:79431 |
Congenital Contractural Arachnodactyly |
|
Intestinal malrotation, High palate, Tracheoesophageal fistula, Duodenal atresia |
ORPHA:115 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:614072 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... |
ORPHA:220460 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Optic nerve hypoplasia, Abnormal hair morphology, High, narrow palate, Bilateral microphthalmos, ... |
OMIM:607597 |
Fryns Syndrome |
|
Hypoplastic fingernail, Aganglionic megacolon, Intestinal malrotation, Cleft palate, Ectopic anus... |
ORPHA:2059 |
Pierpont Syndrome |
|
Microphthalmia, High anterior hairline |
OMIM:602342 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia, Bilateral cleft lip and palate |
ORPHA:1473 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy |
OMIM:619063 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Long eyelashes |
ORPHA:48431 |
Albinism, Oculocutaneous, Type Ia |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair... |
OMIM:203100 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
Hypercholanemia, Familial 1 |
|
Fat malabsorption, Steatorrhea |
OMIM:607748 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Duodenal atresia |
OMIM:619608 |
Fanconi Anemia, Complementation Group S |
|
Low anterior hairline, Narrow palate, Long eyelashes, Sparse hair, Microphthalmia |
OMIM:617883 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Paronychia, Duodenitis, Onychogryposis, Villous atrophy |
OMIM:614328 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Abnormality of skin pigmentation, Microphthalmia, Dysphagia, Hypertrichosis |
OMIM:612379 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia |
ORPHA:324416 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Duodenal ulcer |
OMIM:190310 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia, Cleft palate |
OMIM:613885 |
Congenital Toxoplasmosis |
|
Microphthalmia, Abnormality of retinal pigmentation |
ORPHA:858 |
Stromme Syndrome |
|
Jejunal atresia, Optic nerve hypoplasia, Intestinal malrotation, Cleft palate, Microphthalmia, Du... |
OMIM:243605 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia, Sparse lateral eyebrow |
OMIM:619694 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia, Cleft palate |
OMIM:619981 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Macroglossia, Microphthalmia |
OMIM:613155 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Duodenal atresia |
ORPHA:3004 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia, Dysphagia |
OMIM:308350 |
Hartsfield Syndrome |
|
Microphthalmia, Cleft palate |
ORPHA:2117 |
Spondylo-Ocular Syndrome |
|
Abnormal eyebrow morphology, Aplasia/Hypoplasia of the lens, Low posterior hairline, Microphthalm... |
ORPHA:85194 |
Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Aganglionic megacolon, Blue irides, Hypopigmented skin patches, P... |
OMIM:613266 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Pyloric stenosis, Intestinal pseudo-obstruction, Intestinal... |
OMIM:300048 |
Frontonasal Dysplasia 1 |
|
Microphthalmia, Widow's peak, Median cleft palate |
OMIM:136760 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Ridged nail, Alopecia, Supernumerary nipple, Nail pits, Fine hair, Abnor... |
OMIM:308300 |
Fanconi Anemia, Complementation Group B |
|
Esophageal atresia, Optic disc hypoplasia, Tracheoesophageal fistula, Duodenal atresia |
OMIM:300514 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia, Alopecia, Low anterior hairline, Small nail |
OMIM:614219 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Sparse hair, Microphthalmia, High palate, Retinal pigment epithelial mottling |
OMIM:614105 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormal fingernail morphology, Fine hair, Abnormality of skin pigmentation, Sparse hair, Microph... |
ORPHA:1806 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy |
OMIM:613502 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Steatorrhea, Malabsorption |
ORPHA:3217 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia, Highly arched eyebrow |
OMIM:614583 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Sparse hair, Microphthalmia |
OMIM:610756 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Intestinal malrotation, Highly arched eyebrow, Low anterior hairline, Cleft palate, Microphthalmi... |
ORPHA:404440 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Malabsorption, Steatorrhea, Hematochezia, Protein-losi... |
ORPHA:2070 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411515 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,... |
ORPHA:35173 |
Fanconi Anemia, Complementation Group F |
|
Microphthalmia, Cafe-au-lait spot, Hyperpigmentation of the skin, Duodenal atresia |
OMIM:603467 |
Monosomy 18P |
|
Microphthalmia, Alopecia, Cleft palate, Low posterior hairline |
ORPHA:1598 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia, Esophageal atresia, Cleft soft palate |
OMIM:614526 |
Trigonocephaly 1 |
|
High, narrow palate, Synophrys, Meckel diverticulum |
OMIM:190440 |
Joubert Syndrome 37 |
|
Sparse hair, Microphthalmia, High palate |
OMIM:619185 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
Meckel Syndrome, Type 2 |
|
Microphthalmia, Intestinal malrotation, Cleft palate |
OMIM:603194 |
Sandestig-Stefanova Syndrome |
|
Laterally extended eyebrow, Highly arched eyebrow, High palate, Microphthalmia, Sparse medial eye... |
OMIM:618804 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Gastroesophageal reflux, Dysphagia |
ORPHA:70472 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia, Low anterior hairline |
OMIM:613153 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Sparse eyebrow, Microphthalmia, Widow's peak |
OMIM:167730 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia, Aganglionic megacolon |
ORPHA:1438 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Esophageal atresia, Anophthalmia, Tracheoesophageal fistula |
ORPHA:77298 |
Congenital Fibrinogen Deficiency |
|
Microphthalmia, Abnormality of the subungual region, Volvulus |
ORPHA:335 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
Pancreatic Colipase Deficiency |
|
Fat malabsorption, Steatorrhea |
ORPHA:309108 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Abnormality of retinal pigmentation |
ORPHA:290 |
Lissencephaly 8 |
|
Microphthalmia |
OMIM:617255 |
Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia |
OMIM:602501 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia, High palate, Nail dysplasia |
ORPHA:139471 |
Griscelli Syndrome Type 2 |
|
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79477 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Synophrys, Protein-losing enteropathy |
OMIM:618154 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Gastrointestinal dysmotility, Frontal upsweep of hair, Intestinal malrotation, Duodenal atresia |
OMIM:617798 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia, Alopecia, Fine hair |
ORPHA:228390 |
Cat Eye Syndrome |
|
Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Microphthalm... |
OMIM:115470 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia, Duodenal stenosis |
ORPHA:2470 |
Ataxia-Telangiectasia |
|
Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots |
ORPHA:100 |
Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Adenomatous colonic polyposis, Gastric adenocarcinoma |
OMIM:617100 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Alopecia, Esophageal varix, Aplastic/hypoplastic toenail, Absent fin... |
ORPHA:974 |
Trisomy 13 |
|
Anophthalmia, Abnormal eyelash morphology, High, narrow palate, Cleft palate, Aplasia/Hypoplasia ... |
ORPHA:3378 |
Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... |
ORPHA:999 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia, Hirsutism |
OMIM:214150 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:93267 |
Joubert Syndrome 22 |
|
Microphthalmia |
OMIM:615665 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
High, narrow palate, Cleft palate, Anteriorly placed anus, Gastroesophageal reflux, Dysphagia, Mi... |
OMIM:618494 |
Moebius Syndrome |
|
High palate, Abnormality of the nail, Dysphagia, Microphthalmia, Bifid uvula |
OMIM:157900 |
Fanconi Anemia, Complementation Group W |
|
Duodenal atresia |
OMIM:617784 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia |
OMIM:601794 |
Esophageal Atresia |
|
Barrett esophagus, Intestinal malrotation, Pyloric stenosis, Gastrointestinal dysmotility, Anorec... |
ORPHA:1199 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Sparse eyelashes, Sparse eyebrow, Unilateral microphthalmos, Bilateral cleft lip and palate, Cafe... |
OMIM:618874 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
Focal Dermal Hypoplasia |
|
Alopecia, Hypoplasia of the iris, Abnormality of skin pigmentation, Gastroesophageal reflux, Micr... |
ORPHA:2092 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, High, narrow palate, Hypopigmented skin patches, Multiple cafe-au-lait ... |
ORPHA:3214 |
Frontofacionasal Dysplasia |
|
Brushfield spots, Cleft palate, Absent inner eyelashes, Microphthalmia, Aplasia/Hypoplasia of the... |
ORPHA:1791 |
Muenke Syndrome |
|
High, narrow palate, Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule |
ORPHA:53271 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia |
OMIM:613730 |
Curry-Jones Syndrome |
|
Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Microphthalmia, High anteri... |
OMIM:601707 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Stomach cancer, Cleft palate, Abnormality of skin pigmentation, Colon cance... |
ORPHA:1052 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Cleft palate |
OMIM:257910 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
Fryns Syndrome |
|
Meckel diverticulum, Aganglionic megacolon, Intestinal malrotation, Esophageal atresia, Cleft pal... |
OMIM:229850 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Hypopla... |
OMIM:611584 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Cleft palate |
OMIM:611561 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Protruding tongue, Dysphagia, Hypopigmentation of the skin, Iris hypopi... |
ORPHA:98795 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Anteriorly placed anus, Microphthalmia, Ocular albinism, Anal atresia |
ORPHA:1352 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Hydrolethalus |
|
Anophthalmia, Submucous cleft hard palate, Cleft palate, Microphthalmia, Bifid uvula |
ORPHA:2189 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Fair hair, Blue irides |
OMIM:614613 |
Rere-Related Neurodevelopmental Syndrome |
|
Microphthalmia, Gastroesophageal reflux, Broad eyebrow, Dysphagia |
ORPHA:494344 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia, Bilateral cleft lip and palate |
OMIM:619339 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Alopecia, Barrett... |
ORPHA:90291 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Duodenal polyposis, Optic disc hypoplasia, Early balding, Adenomatous colonic polyposis, Desmoid ... |
ORPHA:261584 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia |
OMIM:618805 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
Microgastria-Limb Reduction Defect Syndrome |
|
Anophthalmia, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoe... |
ORPHA:2538 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Supernumerary nipple, Sparse eyebrow, Synophrys, Cleft palate, Microphthalmia, High anterior hair... |
OMIM:620098 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Protein-losing enteropathy |
ORPHA:79327 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cleft palate |
OMIM:610125 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia, Irregular hyperpigmentation, Generalized hirsutism, Cleft palate |
ORPHA:2505 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Abnormal eyelash morphology, Sparse eyebrow, Widow's peak, Bilateral microphthalmos, Microphthalmia |
ORPHA:2399 |
Chylomicron Retention Disease |
|
Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea |
OMIM:246700 |
Oculofaciocardiodental Syndrome |
|
Intestinal malrotation, Highly arched eyebrow, Submucous cleft hard palate, Cleft palate, Microph... |
ORPHA:2712 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Fetal Alcohol Syndrome |
|
Microphthalmia, Generalized hirsutism, Cleft palate |
ORPHA:1915 |
Alg6-Cdg |
|
Macroglossia, Protein-losing enteropathy |
ORPHA:79320 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, High palate |
OMIM:619053 |
Warburg Micro Syndrome 3 |
|
Microphthalmia, Low anterior hairline, Narrow palate, Hypertrichosis |
OMIM:614222 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia, Frontal balding |
ORPHA:1942 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia |
ORPHA:2788 |
Feingold Syndrome |
|
Esophageal atresia, Duodenal atresia |
ORPHA:1305 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum, Hypoperistalsis |
OMIM:611376 |
Squalene Synthase Deficiency |
|
Optic nerve hypoplasia, Abnormality of hair pigmentation |
OMIM:618156 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Bilateral microphthalmos, Low anterior hairline, Macroglossia, High palate, Frontal upsweep of ha... |
ORPHA:369891 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Sparse hair, Cafe-au-lait spot, Duodenal atresia |
OMIM:614114 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Warburg Micro Syndrome 4 |
|
Microphthalmia, Low anterior hairline, Hirsutism |
OMIM:615663 |
Carney Complex, Type 1 |
|
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
Baraitser-Winter Syndrome 1 |
|
Microphthalmia, Highly arched eyebrow, Low posterior hairline |
OMIM:243310 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia, Iris transillumination defect, Generalized hypopigmentation |
OMIM:617306 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Anal atresia |
OMIM:617244 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Intestinal malrotation |
ORPHA:2328 |
Marden-Walker Syndrome |
|
High, narrow palate, Pyloric stenosis, Cleft palate, Zollinger-Ellison syndrome, High palate, Mic... |
OMIM:248700 |
Gardner Syndrome |
|
Duodenal polyposis, Ampulla of Vater carcinoma, Pilomatrixoma, Adenomatous colonic polyposis, Eso... |
ORPHA:79665 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cleft palate, Furrowed tongue, High palate, Gastroesophageal reflux, Sparse hair, Microphthalmia |
OMIM:616449 |
Temtamy Syndrome |
|
Microphthalmia, Highly arched eyebrow |
OMIM:218340 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene... |
ORPHA:3322 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Widow's peak, Furrowed tongue, High palate, Gastroesophageal reflux, Small nail, Multiple cafe-au... |
OMIM:616975 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Intestinal malrotation, Cleft palate, Low posterior hairline |
OMIM:244300 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... |
OMIM:268400 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia, High palate, Cleft palate |
ORPHA:163649 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Abnormal eyelash morphology, Cleft palate, High palate, Microphthalmia |
OMIM:206920 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Protruding tongue, Dysphagia, Hypopigmentation of the skin, Iris hypopi... |
ORPHA:411511 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Stevenson-Carey Syndrome |
|
Microphthalmia, Gastroesophageal reflux |
OMIM:611961 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Protein-losing enteropathy, Steatorrhea |
OMIM:602579 |
Refractory Celiac Disease |
|
Jejunitis, Villous atrophy, Protein-losing enteropathy, Malabsorption |
ORPHA:398063 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin |
OMIM:618541 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Supernumerary nipple, Sparse eyebrow, Cleft palate, High palate, Small nail, Microphthalmia |
OMIM:612530 |
Congenital Tracheal Stenosis |
|
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... |
ORPHA:141127 |
Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
Cohen Syndrome |
|
Abnormality of retinal pigmentation, Thick hair, Aplasia/Hypoplasia of the tongue, Abnormal eyela... |
ORPHA:193 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Pilomatrixoma, Adenomatous colonic polyposis, Esophageal carcinoma, Multiple ... |
ORPHA:247806 |
3Q29 Microduplication Syndrome |
|
Cleft palate, Ectopic anus, High palate, Aniridia, Microphthalmia |
ORPHA:251038 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia |
ORPHA:3191 |
Incontinentia Pigmenti |
|
Alopecia, Abnormal fingernail morphology, Supernumerary nipple, Abnormal hair morphology, Broad n... |
ORPHA:464 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Sparse pubic hair, Microphthalmia, High palate, Highly arched eyebrow |
OMIM:110100 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia |
OMIM:618652 |
Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair, Microphthalmia |
OMIM:613451 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Ileus, Hypopigmente... |
ORPHA:163746 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Macroglossia, Microphthalmia, Optic nerve hypoplasia |
ORPHA:370959 |
3P25.3 Microdeletion Syndrome |
|
Microphthalmia, Cleft palate, Pyloric stenosis, High, narrow palate |
ORPHA:435638 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
Fraser Syndrome 2 |
|
Intestinal malrotation, Rectal atresia, Low anterior hairline, Microphthalmia, Anal atresia |
OMIM:617666 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Xerostomia, Aplasia/Hypoplasia of the eyebrow, Breast ... |
ORPHA:238468 |
Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia, Ankyloglossia |
OMIM:602361 |
Feingold Syndrome Type 1 |
|
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duodenal atresia |
ORPHA:391641 |
Refsum Disease |
|
Microphthalmia, Abnormality of retinal pigmentation, Nail dysplasia |
ORPHA:773 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia, Linear hyperpigmentation, Alopecia |
OMIM:613001 |
Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Desmoid tumors, Small... |
OMIM:175100 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Abnormally large globe |
OMIM:615249 |
Micro Syndrome |
|
Microphthalmia, High palate, Abnormality of retinal pigmentation, Generalized hirsutism |
ORPHA:2510 |
Vitreoretinochoroidopathy |
|
Microphthalmia, Pigmentary retinopathy |
OMIM:193220 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Pyloric stenosis, Anteriorly placed anus, High palate, Microphthalmia, Cafe-au-lait spot, Anal at... |
OMIM:619148 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia, Gastroesophageal reflux, High, narrow palate |
OMIM:616920 |
Fanconi Anemia, Complementation Group I |
|
Microphthalmia, Cafe-au-lait spot, Optic nerve hypoplasia |
OMIM:609053 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:152950 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Protein-losing enteropathy |
ORPHA:79319 |
Teebi-Shaltout Syndrome |
|
Slow-growing hair, Highly arched eyebrow, High, narrow palate, Low anterior hairline, Cleft palat... |
OMIM:272950 |
Microform Holoprosencephaly |
|
Cleft palate, Duodenal atresia |
ORPHA:280200 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma |
OMIM:618914 |
Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Villous atrophy, Hepatoblastoma, Gastritis, Colitis, Unco... |
ORPHA:84064 |
Aicardi Syndrome |
|
Intestinal polyposis, Abnormality of retinal pigmentation, Hiatus hernia, Malabsorption, Cleft pa... |
ORPHA:50 |
Joubert Syndrome 14 |
|
Microphthalmia, Cleft palate, Highly arched eyebrow |
OMIM:614424 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Submucous cleft hard palate, Cleft palate, Gastroe... |
OMIM:301043 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Sparse hair, Microphthalmia |
OMIM:302960 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Sparse hair, Microphthalmia, Sparse eyelashes, Fine hair |
OMIM:257850 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia, Horizontal eyebrow, Cleft palate |
OMIM:618571 |
Acrofrontofacionasal Dysostosis 1 |
|
Long eyebrows, Widow's peak, Cleft palate, Long eyelashes, Small nail, Microphthalmia |
OMIM:201180 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, High, narrow palate, Glo... |
ORPHA:2108 |
Frontorhiny |
|
Microphthalmia, Widow's peak, Bifid tongue, Cleft palate |
ORPHA:391474 |
Walker-Warburg Syndrome |
|
Anophthalmia, Submucous cleft hard palate, Cleft palate, Microphthalmia, Bifid uvula |
ORPHA:899 |
Martsolf Syndrome 1 |
|
Low anterior hairline, Low posterior hairline, High palate, Microphthalmia, Abnormal toenail morp... |
OMIM:212720 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
Distal Deletion 12Q |
|
High, narrow palate, Esophageal atresia, Pyloric stenosis, Fine hair, Small nail, Microglossia, D... |
ORPHA:96149 |
Meckel Syndrome, Type 4 |
|
Microphthalmia, Cleft palate |
OMIM:611134 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Protruding tongue, Dysphagia, Hypopigmentation of the skin, Iris hypopi... |
ORPHA:98794 |
Chediak-Higashi Syndrome |
|
Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Ma... |
OMIM:214500 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia, High palate, Hypoplastic nipples, Cleft palate |
OMIM:156610 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Esophageal atresia, Tracheoesophageal fistula, Microphthalmia, Anal atresia |
ORPHA:3412 |
Oculodentodigital Dysplasia |
|
Dry hair, Slow-growing hair, Cleft palate, Fine hair, High palate, Sparse hair, Microphthalmia, F... |
OMIM:164200 |
Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Septo-optic dysplasia, Anal atresia |
ORPHA:3301 |
Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Abnormality of hair texture, High, narrow palate, Pyloric stenosis, Nar... |
ORPHA:96169 |
3Q29 Microdeletion Syndrome |
|
Abnormality of skin pigmentation, Microphthalmia, High palate, Gastroesophageal reflux |
ORPHA:65286 |
Feingold Syndrome 1 |
|
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Tracheoesophageal fistula, High pa... |
OMIM:164280 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Synophrys, Cleft palate, Thin eyebrow, Small nail, Microphthalmia, Microglossia, Cafe-au-lait spot |
ORPHA:364577 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Hypopigmentation of hair, Partial albinism, Malabsorption, Ocular al... |
ORPHA:79430 |
Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia |
OMIM:169550 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Bilateral microphthalmos, Optic nerve hypoplasia, Duodenal atresia |
ORPHA:468631 |
Ohdo Syndrome, X-Linked |
|
Hiatus hernia, Sparse eyebrow, High palate, Microphthalmia, High anterior hairline, Cafe-au-lait ... |
OMIM:300895 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia, Alopecia, Irregular hyperpigmentation, Melanocytic nevus |
ORPHA:2612 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abnormal small intestinal villus morphology |
ORPHA:2290 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Protein-losing enteropathy, High palate, Hypertrichosis, Abnormally large globe |
ORPHA:1655 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Highly arched eyebrow |
OMIM:619135 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Cleft palate, Duodenal atresia |
OMIM:257300 |
Jacobsen Syndrome |
|
Intestinal malrotation, Pyloric stenosis, Abnormality of the anus, Ectopic anus, Aplasia/Hypoplas... |
ORPHA:2308 |
Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, High, narrow palate, Narrow palate, Fine hai... |
OMIM:234100 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
Fanconi Anemia, Complementation Group L |
|
Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Microphthalmia, Cafe-au-lait spot, A... |
OMIM:614083 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia, Freckling, Pigmentary retinopathy |
OMIM:610651 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,... |
ORPHA:79076 |
Abetalipoproteinemia |
|
Fat malabsorption |
OMIM:200100 |
Oculoskeletodental Syndrome |
|
Macroglossia, Low anterior hairline, Protein-losing enteropathy, Low posterior hairline |
OMIM:618440 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Fat malabsorption, Acholic stools, Steatorrhea |
OMIM:607765 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Protein-losing enteropathy |
OMIM:608104 |
Mosaic Trisomy 9 |
|
Intestinal malrotation, Cleft palate, High palate, Small nail, Microphthalmia |
ORPHA:99776 |
Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia |
OMIM:120200 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Pyloric stenosis, Gastroesophageal reflux, Breast hypoplasia, Duodenal atresia |
ORPHA:464306 |
Galloway-Mowat Syndrome 1 |
|
Hiatus hernia, Hypoplasia of the iris, High palate, Small nail, Microphthalmia, Hypopigmentation ... |
OMIM:251300 |
Warburg Micro Syndrome 2 |
|
Microphthalmia, Low anterior hairline |
OMIM:614225 |
Cog8-Cdg |
|
Protein-losing enteropathy |
ORPHA:95428 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Intestinal malrotation, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Congenital s... |
OMIM:265380 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia, Bifid uvula |
OMIM:241410 |
Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia, Cleft palate, High, narrow palate, Aplasia/Hypoplasia of the nails |
ORPHA:2714 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia, Cleft palate |
ORPHA:2728 |
2Q31.1 Microdeletion Syndrome |
|
Hypoplastic toenails, Abnormal hair morphology, Synophrys, Low anterior hairline, Cleft palate, M... |
ORPHA:251014 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Hematochezia, ... |
ORPHA:913 |
Plasminogen Deficiency, Type I |
|
Duodenal ulcer |
OMIM:217090 |
Brittle Cornea Syndrome 1 |
|
Red hair |
OMIM:229200 |
Miller-Dieker Lissencephaly Syndrome |
|
Cleft palate, Duodenal atresia |
OMIM:247200 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse scalp hair, Sparse eyebrow, High, narrow palate, Cleft palate, Furrowed tongue, Microphtha... |
ORPHA:464738 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Fat malabsorption, Hepatocellular carcinoma |
OMIM:601847 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia, High palate, Pigmentary retinopathy, Cleft palate |
OMIM:614230 |
Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Anal stenosis, Alopecia totalis, Absent eyelashes, C... |
OMIM:263650 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
Lymphedema-Distichiasis Syndrome |
|
Yellow nails, Microphthalmia, Distichiasis, Cleft palate |
OMIM:153400 |
Degcags Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Jejunal atresia, Protruding tongue, Abnorm... |
OMIM:619488 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cleft palate, Anteriorly placed anus, Pigmentary retinopathy, Colonic atresia, Microphthalmia, An... |
OMIM:309801 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
High palate, Protein-losing enteropathy, Cleft palate, Hypertrichosis |
OMIM:235255 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Hamartoma of tongue, Sparse eyebrow, Cleft palate, Lobulated tongue, Microphthalmia, Bifid tongue... |
OMIM:616300 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
8Q21.11 Microdeletion Syndrome |
|
Microphthalmia, High palate, Iris hypopigmentation |
ORPHA:284160 |
Trisomy 18 |
|
Abnormality of retinal pigmentation, Esophageal atresia, Cleft palate, Narrow palate, Microphthal... |
ORPHA:3380 |
Duane-Radial Ray Syndrome |
|
Anal stenosis, Aganglionic megacolon, Optic disc hypoplasia, Microphthalmia, Anal atresia |
OMIM:607323 |
Trichothiodystrophy |
|
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Concave nail, High, narrow palate, Bila... |
ORPHA:33364 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia |
OMIM:616538 |
Focal Dermal Hypoplasia |
|
Ridged nail, Linear hyperpigmentation, Anophthalmia, Brittle hair, Intestinal malrotation, Supern... |
OMIM:305600 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia, Long eyelashes |
OMIM:615877 |
Duane Retraction Syndrome |
|
Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypoplasia, Anorectal anomaly,... |
ORPHA:233 |
Treacher-Collins Syndrome |
|
Absent eyelashes, Abnormal hair morphology, Low anterior hairline, Tracheoesophageal fistula, Cle... |
ORPHA:861 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Duodenal polyposis, Stomach cancer, Adenomatous colonic polyposis, Multiple g... |
ORPHA:733 |
Cousin Syndrome |
|
Low anterior hairline, Cleft palate, Facial hirsutism, Microphthalmia, Microglossia |
OMIM:260660 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair |
OMIM:609734 |
Coffin-Siris Syndrome 1 |
|
Sparse scalp hair, Dry hair, Duodenal ulcer, Intestinal malrotation, Hypoplastic fifth fingernail... |
OMIM:135900 |
Dubowitz Syndrome |
|
Sparse scalp hair, Velopharyngeal insufficiency, Submucous cleft hard palate, Hypoplasia of the i... |
OMIM:223370 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia, Scarring alopecia of scalp |
OMIM:618727 |
Pelvis-Shoulder Dysplasia |
|
Microglossia, Bilateral microphthalmos, Cleft palate, Facial hirsutism |
ORPHA:2839 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia |
ORPHA:891 |
Fanconi Anemia |
|
Aganglionic megacolon, Aplasia/Hypoplasia of the uvula, Hypopigmented skin patches, Tracheoesopha... |
ORPHA:84 |
Mosaic Trisomy 1 |
|
Microphthalmia, Cleft palate, Hypoplastic thumbnail, Small nail |
ORPHA:1692 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia, Macroglossia, Cleft palate |
OMIM:613150 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology |
ORPHA:2847 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Gastroesophageal reflux, Duodenal atresia |
ORPHA:464311 |
Mycophenolate Mofetil Embryopathy |
|
Hypoplastic toenails, Microphthalmia, Tracheoesophageal fistula |
ORPHA:268249 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Rectal prolapse, Narrow palate, Protein-losing enteropathy, Intestinal lymphangiectasia, Hirsutism |
OMIM:235510 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Esophageal atresia, Microphthalmia |
OMIM:206900 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia, Hyperpigmented streaks |
OMIM:300952 |
Pseudotrisomy 13 Syndrome |
|
Microphthalmia, Anal atresia, Median cleft lip and palate |
OMIM:264480 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Aplasia/Hypoplasia affecting the eye, Ocular albinism, Iris hypopigment... |
ORPHA:2719 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Esophageal diverticulum, Hamartoma of tongue, Cleft palate, Low posterior hairline, Microphthalmi... |
OMIM:617925 |
Galloway-Mowat Syndrome 3 |
|
Microphthalmia, High palate, Hiatus hernia |
OMIM:617729 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Submucous cleft hard palate, Cleft palate, Microphthalmia, Bifid uvula |
ORPHA:2250 |
Fanconi Anemia, Complementation Group E |
|
Microphthalmia, Cafe-au-lait spot, Hyperpigmentation of the skin |
OMIM:600901 |
Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Juv... |
ORPHA:2929 |
Fanconi Anemia, Complementation Group D2 |
|
Esophageal atresia, Tracheoesophageal fistula, Abnormality of skin pigmentation, Microphthalmia, ... |
OMIM:227646 |
Vici Syndrome |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Cleft palate, Macular hypoplasia, High palat... |
OMIM:242840 |
Holoprosencephaly |
|
Anophthalmia, Median cleft lip and palate, Highly arched eyebrow, Synophrys, Gastroesophageal ref... |
ORPHA:2162 |
Pallister-Hall Syndrome |
|
Cleft palate, Anteriorly placed anus, Nail dysplasia, Microphthalmia, Microglossia, Anal atresia |
OMIM:146510 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Synophrys, Cleft palate, High palate, Thin eyebrow, Small nail,... |
OMIM:608670 |
Microcephaly-Micromelia Syndrome |
|
Microphthalmia, Cleft palate |
OMIM:251230 |
Fanconi Anemia, Complementation Group A |
|
Abnormality of skin pigmentation, Microphthalmia, Cafe-au-lait spot |
OMIM:227650 |
Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia |
ORPHA:91495 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos |
OMIM:610758 |
Jacobsen Syndrome |
|
Abnormal eyelash morphology, Microphthalmia, Macular hypoplasia, Pyloric stenosis |
OMIM:147791 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Melanonychia, Abnormality of retinal pigmentation, Anophthalmia, Abnormal eyelash morphology, Abn... |
ORPHA:2526 |
Momo Syndrome |
|
Bilateral microphthalmos, High palate, Hyperconvex nail |
ORPHA:2563 |
Menke-Hennekam Syndrome 2 |
|
Duodenal ulcer |
OMIM:618333 |
Scedosporiosis |
|
Abnormal jejunum morphology |
ORPHA:449280 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic nerve hypoplasia, Cleft palate, Buphthalmos, Microphthalmia, Anal atresia |
OMIM:236670 |
Fraser Syndrome 1 |
|
Absent eyebrow, Abnormal small intestine morphology, Anophthalmia, Absent eyelashes, Bilateral mi... |
OMIM:219000 |
Brittle Cornea Syndrome |
|
Abnormality of hair pigmentation, Cleft palate |
ORPHA:90354 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Microphthalmia, Anal atresia, Intestinal malrotation, Cleft palate |
ORPHA:2166 |
Monosomy 9P |
|
Thin nail, Highly arched eyebrow, Synophrys, Cleft palate, Low posterior hairline, High palate, M... |
ORPHA:261112 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hypoplastic toenails, Anal atresia, Posteriorly placed anus, Duodenal atresia |
OMIM:306955 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Dysphagia, Megaduodenum, Microcolon |
OMIM:155310 |
Spondyloocular Syndrome |
|
Duodenal ulcer, Low posterior hairline |
OMIM:605822 |
Fontaine Progeroid Syndrome |
|
Sparse scalp hair, Absent nipple, Protruding tongue, High, narrow palate, Synophrys, Low anterior... |
OMIM:612289 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Anophthalmia, Abnormal eyelash morphology, Hypopigmented ski... |
ORPHA:2556 |
Premature Aging Syndrome, Penttinen Type |
|
Sparse hair, Microphthalmia |
OMIM:601812 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Brittle hair, Highly arched eyebrow, Brushfield spots, Stellate iris, Sy... |
OMIM:619539 |
Charge Syndrome |
|
Anal stenosis, Anophthalmia, Esophageal atresia, Tracheoesophageal fistula, Unilateral microphtha... |
OMIM:214800 |
Joubert Syndrome 2 |
|
Microphthalmia, High palate |
OMIM:608091 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Hypopigmentation of hair, Widow's peak, Coarse hair, High palate |
ORPHA:1974 |
Fanconi Anemia, Complementation Group C |
|
Microphthalmia, Cafe-au-lait spot, Hyperpigmentation of the skin |
OMIM:227645 |
Atelis Syndrome 2 |
|
Microphthalmia, High palate, Gastroesophageal reflux |
OMIM:620185 |
1Q21.1 Microdeletion Syndrome |
|
Microphthalmia, Ankyloglossia, High palate |
ORPHA:250989 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Sparse eyebrow, Gastroesophageal reflux, Hypoplastic nipples, Small nail, Nail dys... |
OMIM:620186 |
Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Cleft palate, High palate, Stellate iris, Hypopigmentation of the skin,... |
ORPHA:177907 |
Cockayne Syndrome B |
|
Dry hair, Abnormal hair morphology, Hypoplasia of the iris, Abnormality of skin pigmentation, Pig... |
OMIM:133540 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Sparse eyelashes, Sparse eyebrow, Widow's peak, Cleft palate, Microphthalmia |
ORPHA:306542 |
Tarp Syndrome |
|
Abnormal hair pattern, Cleft palate, Glossoptosis, Abnormal duodenum morphology, Tongue nodules, ... |
ORPHA:2886 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia, Supernumerary nipple |
ORPHA:1236 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Xerostomia, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398079 |
Microphthalmia, Lenz Type |
|
Microphthalmia |
ORPHA:568 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Xerostomia, Hypopigmentation of hair, Hypopigmentation of the skin, Gastroesophageal reflux |
ORPHA:398069 |
Immunodeficiency 31C |
|
Gastrointestinal eosinophilia, Villous atrophy, Protein-losing enteropathy, Intussusception |
OMIM:614162 |
Holoprosencephaly 7 |
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Bilateral cleft palate, Synophrys, Bilateral microphthalmos, Cleft palate, Microphthalmia, Unilat... |
OMIM:610828 |
Iniencephaly |
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Anal atresia, Duodenal atresia |
ORPHA:63259 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Microphthalmia, Abnormality of retinal pigmentation |
ORPHA:85167 |
Prader-Willi Syndrome |
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Hypopigmentation of hair, Frontal upsweep of hair, Generalized hypopigmentation, Hypopigmentation... |
OMIM:176270 |
Steinfeld Syndrome |
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Microphthalmia, Bifid uvula, Median cleft lip and palate |
OMIM:184705 |
Whim Syndrome |
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Abnormal small intestine morphology, Parotitis, Vitiligo |
ORPHA:51636 |
Menkes Disease |
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Gastrointestinal hemorrhage, Hypopigmentation of hair, Malabsorption, Sparse hair, Woolly hair |
ORPHA:565 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Microphthalmia |
OMIM:253800 |
Xeroderma Pigmentosum, Complementation Group D |
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Microphthalmia |
OMIM:278730 |
Basal Cell Nevus Syndrome 1 |
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Microphthalmia, Hamartomatous stomach polyps, Cleft palate |
OMIM:109400 |
Renpenning Syndrome 1 |
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Brittle hair, Cleft palate, High palate, Sparse hair, Microphthalmia, Anal atresia, Sparse latera... |
OMIM:309500 |
Aicardi Syndrome |
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Hiatus hernia, Cleft palate, Hepatoblastoma, Microphthalmia, Sparse lateral eyebrow |
OMIM:304050 |
Cockayne Syndrome Type 3 |
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Premature graying of hair, Microphthalmia, Dry hair, Gastroesophageal reflux |
ORPHA:90324 |
Oculocerebrorenal Syndrome Of Lowe |
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Sparse scalp hair, Malabsorption, Narrow palate, Fine hair, Buphthalmos, Gastroesophageal reflux,... |
ORPHA:534 |
Bosma Arhinia Microphthalmia Syndrome |
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Microphthalmia, Synophrys, High palate, Cleft palate |
OMIM:603457 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
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Microphthalmia, Optic nerve hypoplasia |
OMIM:614643 |
Multiple Endocrine Neoplasia Type 1 |
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Duodenal ulcer, Peptic ulcer, Hematemesis, Large cafe-au-lait macules with irregular margins, Mel... |
ORPHA:652 |
Branchiooculofacial Syndrome |
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Anophthalmia, Supernumerary nipple, Malrotation of colon, Pyloric stenosis, Cleft palate, Low pos... |
OMIM:113620 |
Oculoauricular Syndrome |
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Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia |
OMIM:612109 |
Metachromatic Leukodystrophy |
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Abnormal stomach morphology, Abnormal duodenum morphology, Intussusception, Neoplasm of the gallb... |
ORPHA:512 |
Acro-Renal-Ocular Syndrome |
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Aganglionic megacolon, Microphthalmia, Optic disc hypoplasia |
ORPHA:959 |
Phace Association |
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Microphthalmia, Optic nerve hypoplasia |
OMIM:606519 |
Mend Syndrome |
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Microphthalmia, High palate, Spotty hypopigmentation, Cleft palate |
ORPHA:401973 |
Papillorenal Syndrome |
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Microphthalmia |
OMIM:120330 |
22Q11.2 Deletion Syndrome |
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Gastrointestinal hemorrhage, Aganglionic megacolon, Intestinal malrotation, Anorectal anomaly, Hy... |
ORPHA:567 |
Immunodeficiency 82 With Systemic Inflammation |
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Villous atrophy, Duodenal ulcer, Gastritis, Colitis, Anoperineal fistula, Crohn's disease |
OMIM:619381 |
Holoprosencephaly 9 |
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Anophthalmia, Optic nerve hypoplasia, Cleft palate, Bilateral cleft lip and palate, Microphthalmi... |
OMIM:610829 |
Smith-Lemli-Opitz Syndrome |
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Hypopigmentation of hair, Aganglionic megacolon, Abnormal eyelash morphology, Pyloric stenosis, B... |
ORPHA:818 |
Meckel Syndrome 14 |
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Microphthalmia |
OMIM:619879 |
Myhre Syndrome |
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Cleft palate, Fine hair, Sparse hair, Microphthalmia, Thick eyebrow |
OMIM:139210 |
Pierson Syndrome |
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Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro... |
OMIM:609049 |
Adams-Oliver Syndrome 1 |
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Alopecia, Supernumerary nipple, Cleft palate, Small nail, Microphthalmia |
OMIM:100300 |
Microphthalmia With Limb Anomalies |
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Abnormal eyebrow morphology, Cleft palate, High palate, Microphthalmia, True anophthalmia |
ORPHA:1106 |
Diets-Jongmans Syndrome |
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Duodenal atresia |
OMIM:618846 |
Roberts Syndrome |
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Sparse hair, Microphthalmia, High palate, Cleft palate |
ORPHA:3103 |
Chédiak-Higashi Syndrome |
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Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl... |
ORPHA:167 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Microphthalmia, Optic nerve hypoplasia, Hypertrichosis |
ORPHA:508498 |
Meckel Syndrome |
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Anophthalmia, Aplasia/Hypoplasia of the tongue, Cleft palate, Furrowed tongue, Aplasia/Hypoplasia... |
ORPHA:564 |
Fraser Syndrome |
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Anal stenosis, Anophthalmia, Abnormal hair pattern, Ectopic anus, High palate, Microphthalmia, Bi... |
ORPHA:2052 |
Treacher Collins Syndrome 1 |
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Sparse lower eyelashes, Cleft soft palate, Bilateral microphthalmos, Cleft palate, Abnormal parot... |
OMIM:154500 |
Townes-Brocks Syndrome 1 |
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Anal stenosis, Rectoperineal fistula, Tracheoesophageal fistula, Gastroesophageal reflux, Rectova... |
OMIM:107480 |
Hypoplasminogenemia |
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Duodenal ulcer |
ORPHA:722 |
Yunis-Varon Syndrome |
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Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, High, narrow palate, Pyloric stenosis, Bilat... |
ORPHA:3472 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98754 |
Prader-Willi Syndrome |
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Xerostomia, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:739 |
Frontofacionasal Dysplasia |
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Microphthalmia, Bifid uvula, Absent inner eyelashes |
OMIM:229400 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177904 |
Histiocytoid Cardiomyopathy |
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Microphthalmia, Cleft palate, Congenital aphakia |
ORPHA:137675 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177901 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
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Microphthalmia, Synophrys, Low anterior hairline, Cleft palate |
OMIM:616734 |
Heterotaxy, Visceral, 5, Autosomal |
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Intestinal malrotation, Duodenal atresia |
OMIM:270100 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Sparse hair, Microphthalmia |
OMIM:620005 |
Isolated Arrhinia |
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Microphthalmia |
ORPHA:1134 |
Cockayne Syndrome |
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Abnormality of retinal pigmentation, Dry hair, Fine hair, Pigmentary retinopathy, Gastroesophagea... |
ORPHA:191 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
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Microphthalmia, High palate, Bifid uvula |
OMIM:601552 |
Proboscis Lateralis |
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Abnormal eyebrow morphology, Anophthalmia, Abnormal location of the eyebrow, Optic nerve hypoplas... |
ORPHA:141099 |
Meckel Syndrome, Type 1 |
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Intestinal malrotation, Cleft palate, Lobulated tongue, Microphthalmia, Anal atresia |
OMIM:249000 |
Phace Syndrome |
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Microphthalmia, Lens coloboma, Heterochromia iridis, Optic nerve hypoplasia |
ORPHA:42775 |
Charge Syndrome |
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Anophthalmia, Highly arched eyebrow, Abnormal soft palate morphology, Tracheoesophageal fistula, ... |
ORPHA:138 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Microphthalmia, High palate, Aplasia/Hypoplasia of the nails |
OMIM:609945 |
Monosomy 9Q22.3 |
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Microphthalmia |
ORPHA:77301 |
Tetraamelia Syndrome 1 |
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Microphthalmia, Anal atresia, Cleft palate |
OMIM:273395 |
Microphthalmia, Syndromic 2 |
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Anophthalmia, Phthisis bulbi, Submucous cleft hard palate, Laterally curved eyebrow, Microphthalm... |
OMIM:300166 |
Monosomy 13Q14 |
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Abnormality of the gastrointestinal tract, Microphthalmia |
ORPHA:1587 |
Diarrhea 10, Protein-Losing Enteropathy Type |
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Hematochezia, Protein-losing enteropathy |
OMIM:618183 |
Microphthalmia, Syndromic 9 |
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Anophthalmia, Bilateral microphthalmos |
OMIM:601186 |
Chromosome 13Q14 Deletion Syndrome |
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Microphthalmia, High palate, Supernumerary nipple |
OMIM:613884 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Frontal balding, Highly arched eyebrow, Synophrys, High palate, Long lower eyelashes, Microphthal... |
OMIM:612474 |
Kenny-Caffey Syndrome, Type 2 |
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Microphthalmia |
OMIM:127000 |
Autosomal Recessive Polycystic Kidney Disease |
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Gastrointestinal hemorrhage, Cholangiocarcinoma, Esophageal varix, Protein-losing enteropathy, He... |
ORPHA:731 |
Witteveen-Kolk Syndrome |
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Medial flaring of the eyebrow, Hyperconvex nail, High, narrow palate, Fine hair, High palate, Gas... |
OMIM:613406 |
Cystinosis, Nephropathic |
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Hypopigmentation of hair, Oral-pharyngeal dysphagia, Retinal pigment epithelial mottling, Pigment... |
OMIM:219800 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
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Intestinal malrotation, Hiatus hernia, Cleft palate, High palate, Abnormal duodenum morphology |
OMIM:601776 |
Osteoporosis-Pseudoglioma Syndrome |
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Microphthalmia, Phthisis bulbi |
OMIM:259770 |
Mowat-Wilson Syndrome |
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Aganglionic megacolon, Supernumerary nipple, Pyloric stenosis, Submucous cleft hard palate, Cleft... |
OMIM:235730 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Buphthalmos, Microphthalmia, Hypoplasia of the retina |
OMIM:253280 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
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Microphthalmia |
ORPHA:3186 |
8Q24.3 Microdeletion Syndrome |
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Gastrointestinal hemorrhage, Optic nerve hypoplasia, Highly arched eyebrow, Bilateral microphthal... |
ORPHA:508488 |
Neu-Laxova Syndrome 1 |
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Absent eyelashes, Microphthalmia, Cleft palate |
OMIM:256520 |
Pallister-Hall Syndrome |
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Cleft palate, Nail dysplasia, Microphthalmia, Microglossia, Bifid uvula, Anal atresia |
ORPHA:672 |
Microphthalmia, Syndromic 6 |
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Anophthalmia, Cleft palate, High palate, Microphthalmia, Microglossia, Bifid uvula |
OMIM:607932 |
Holoprosencephaly 2 |
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Submucous cleft hard palate, Bilateral cleft lip and palate, Microphthalmia, Bifid uvula, Median ... |
OMIM:157170 |
Townes-Brocks Syndrome |
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Rectoperineal fistula, Anteriorly placed anus, Rectovaginal fistula, Microphthalmia, Anal atresia |
ORPHA:857 |
Holoprosencephaly 1 |
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Microphthalmia, Median cleft lip and palate |
OMIM:236100 |
Liver Disease, Severe Congenital |
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Chronic gastritis, Dry hair, Protein-losing enteropathy, Nail dystrophy |
OMIM:619991 |
Microphthalmia, Syndromic 1 |
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Anophthalmia, Aganglionic megacolon, High, narrow palate, Rectal prolapse, Pyloric stenosis, High... |
OMIM:309800 |
Mowat-Wilson Syndrome |
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Aganglionic megacolon, Cleft hard palate, Pyloric stenosis, Gastrointestinal dysmotility, Enteroc... |
ORPHA:2152 |
Roberts-Sc Phocomelia Syndrome |
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Cleft palate, High palate, Sparse hair, Microphthalmia, Cafe-au-lait spot |
OMIM:268300 |
Hydrolethalus Syndrome 1 |
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Microphthalmia, Cleft palate |
OMIM:236680 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Bilateral microphthalmos |
ORPHA:93325 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Aganglionic megacolon, Cleft hard palate, Pyloric stenosis, Cleft palate, Submucous cleft of soft... |
ORPHA:261537 |
Lowe Oculocerebrorenal Syndrome |
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Microphthalmia |
OMIM:309000 |
Norrie Disease |
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Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:649 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Aganglionic megacolon, Highly arched eyebrow, Cleft hard palate, Pyloric stenosis, Cleft palate, ... |
ORPHA:261552 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Hypoplasia of the iris, Microphthalmia |
OMIM:175780 |
Craniofacial Microsomia 1 |
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Microphthalmia, Anophthalmia, Cleft palate |
OMIM:164210 |