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Gene: Ldaf1 MGI:1925752

Gene Summary

Name:

lipid droplet assembly factor 1

Synonyms:

8430420C20Rik, Tmem159

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
hyperactivity	Ldaf1^{em1(IMPC)Kmpc}	HOM	Early adult	6.09×10^-07
microphthalmia	Ldaf1^{em1(IMPC)Kmpc}	HOM	Late adult	0.00
abnormal coat/hair pigmentation	Ldaf1^{em1(IMPC)Kmpc}	HOM	Late adult	1.72×10^-08
increased lean body mass	Ldaf1^{em1(IMPC)Kmpc}	HOM	Late adult	5.15×10^-05
abnormal eye morphology	Ldaf1^{em1(IMPC)Kmpc}	HOM	Late adult	0.00
abnormal duodenum morphology	Ldaf1^{em1(IMPC)Kmpc}	HOM	Late adult	0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

Images Slit Lamp

2 Images

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Human diseases caused by Ldaf1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Ldaf1 (0 diseases)
Human diseases predicted to be associated with Ldaf1 (643 diseases)

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

The table below shows human diseases predicted to be associated to Ldaf1 by phenotypic similarity.

Disease	Matching phenotypes	Source
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	Attention deficit hyperactivity disorder, Aggressive behavior, Impulsivity, Motor tics	OMIM:300830
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7	Attention deficit hyperactivity disorder	OMIM:613003
Gilles De La Tourette Syndrome	Compulsive behaviors, Phonic tics, Motor tics, Attention deficit hyperactivity disorder, Self-mut...	OMIM:137580
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Autism, Susceptibility To, 20	Attention deficit hyperactivity disorder, Compulsive behaviors	OMIM:618830
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 2	Attention deficit hyperactivity disorder, Self-injurious behavior	OMIM:607417
Griscelli Syndrome, Type 3	Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair	OMIM:609227
Griscelli Syndrome, Type 1	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large...	OMIM:214450
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Smith-Magenis syndrome	Hyperactivity, Self-mutilation, Motor stereotypy	DECIPHER:8
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Motor stereotypy	OMIM:300271
Albinism, Oculocutaneous, Type Iii	Albinism, Red hair, Partial albinism	OMIM:203290
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Tietz Syndrome	White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o...	ORPHA:42665
Intellectual Developmental Disorder, X-Linked 109	Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic...	OMIM:309548
Fraxe Intellectual Disability	Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic...	ORPHA:100973
Albinism, Oculocutaneous, Type Iv	Macular hypoplasia, Albinism, Blue irides, Hypopigmentation of hair	OMIM:606574
Intellectual Developmental Disorder, Autosomal Dominant 33	Hyperactivity	OMIM:616311
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity	OMIM:301008
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Hyperactivity, Self-injurious behavior, Aggressive behavior	OMIM:619031
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting	Hyperactivity, Dysphagia, Impulsivity	OMIM:620448
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair	ORPHA:1410
Hidrotic Ectodermal Dysplasia	Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype...	ORPHA:189
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, Aganglionic megacolon, Heterochromia iridi...	OMIM:613265
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Large for gestational age, Microphthalmia, Median cleft palate	ORPHA:2432
Nanophthalmos	Microphthalmia, Abnormality of retinal pigmentation	ORPHA:35612
Waardenburg Syndrome, Type 2F	Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri...	OMIM:619947
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Gombo Syndrome	Microphthalmia	OMIM:233270
Griscelli Syndrome Type 3	Iris hypopigmentation, Hypopigmentation of hair, Partial albinism	ORPHA:79478
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:606952
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha...	ORPHA:170
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of the skin, Hypoplasia of the fovea, Hypopigment...	OMIM:619165
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity	ORPHA:436151
Developmental And Epileptic Encephalopathy 104	Hyperactivity, Self-injurious behavior, Agitation	OMIM:619970
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia, Abnormality of retinal pigmentation	ORPHA:1574
Waardenburg-Shah Syndrome	Premature graying of hair, Intestinal obstruction, Aganglionic megacolon, Hypopigmentation of hai...	ORPHA:897
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Waardenburg Syndrome, Type 2A	Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo...	OMIM:193510
Albinism, Oculocutaneous, Type Ii	Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Hypoplasia of the fovea, Albini...	OMIM:203200
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, Aganglionic megacolon, Hypopigmentation of...	ORPHA:895
Diarrhea 5, With Tufting Enteropathy, Congenital	Failure to thrive, Crypt hyperplasia, Small for gestational age, Villous atrophy	OMIM:613217
Griscelli Syndrome, Type 2	Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos...	OMIM:607624
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair	ORPHA:90023
Multiple Intestinal Atresia	Gastrointestinal atresia, Duodenal stenosis	ORPHA:2300
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Piebald Trait-Neurologic Defects Syndrome	Hypopigmented skin patches, Irregular hyperpigmentation, Aganglionic megacolon, Hypopigmentation ...	ORPHA:2885
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity	OMIM:617113
Albinism, Oculocutaneous, Type Vi	Generalized hypopigmentation, Hypoplasia of the fovea, Fair hair	OMIM:113750
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia	OMIM:611638
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Gastritis, Pancolitis, Abnormal intestine morphology, Esophagitis, Du...	OMIM:619079
Autoinflammatory Disease, Familial, Behcet-Like 3	Ileitis	OMIM:618287
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hy...	ORPHA:33445
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Hyperprolinemia, Type I	Hyperactivity, Motor stereotypy, Aggressive behavior	OMIM:239500
Glycine Encephalopathy 1	Hyperactivity, Restlessness, Impulsivity, Aggressive behavior	OMIM:605899
Nanophthalmos 4	Microphthalmia	OMIM:615972
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior	OMIM:301107
Bile Acid Malabsorption, Primary, 1	Failure to thrive, Steatorrhea, Fat malabsorption, Increased fecal bile acid	OMIM:613291
Morm Syndrome	Hyperactivity, Aggressive behavior	ORPHA:75858
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Intellectual Developmental Disorder, Autosomal Dominant 67	Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics	OMIM:619927
Waardenburg Syndrome, Type 4A	Hypopigmented skin patches, Premature graying of hair, Aganglionic megacolon, Heterochromia iridi...	OMIM:277580
Microphthalmia, Syndromic 12	Intestinal malrotation, Microphthalmia, Cleft palate, Anophthalmia	OMIM:615524
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Adams-Oliver Syndrome 4	Microphthalmia, Toenail dysplasia, Hypoplastic toenails	OMIM:615297
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Cleft palate	OMIM:616570
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Hartnup Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:234500
Diarrhea 9	Failure to thrive, Villous atrophy	OMIM:618168
Visceral Myopathy 2	Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ...	OMIM:619350
Facial Clefting, Oblique, 1	Microphthalmia, Cleft palate	OMIM:600251
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Generalized hyperpigmentation, Hypopigmentation of hair	ORPHA:1355
Duodenal Atresia	Duodenal atresia	OMIM:223400
Ermine Phenotype	White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig...	OMIM:227010
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, High palate	ORPHA:2528
Hypotrichosis 8	Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye...	OMIM:278150
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Small for gestational age	OMIM:278780
Diarrhea 7, Protein-Losing Enteropathy Type	Failure to thrive, Protein-losing enteropathy, Villous atrophy	OMIM:615863
Congenital Short Bowel Syndrome	Steatorrhea, Abnormal peristalsis, Congenital shortened small intestine, Intestinal malrotation, ...	OMIM:615237
8p23.1 deletion syndrome	Hyperactivity	DECIPHER:39
2Q24 Microdeletion Syndrome	Failure to thrive, Microphthalmia, Cleft palate, Small for gestational age	ORPHA:1617
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Hypopigmentation of hair, Alopecia	ORPHA:1067
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:2786
Elejalde Neuroectodermal Melanolysosomal Syndrome	Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos...	OMIM:256710
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Cleft palate	OMIM:120433
Piebaldism	Hypopigmented skin patches, Aganglionic megacolon, Hypopigmentation of hair, Piebald skin depigme...	ORPHA:2884
Woolly Hair Nevus	Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Pat...	ORPHA:79414
Oculocutaneous Albinism Type 4	Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm...	ORPHA:79435
Piebald Trait	Aganglionic megacolon, Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent ...	OMIM:172800
Oculocutaneous Albinism Type 3	Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit...	ORPHA:79433
Vascular Hyalinosis	Premature graying of hair, Protein-losing enteropathy, Hematochezia	OMIM:277175
Waardenburg Syndrome Type 1	Premature graying of hair, Hypopigmented skin patches, Aganglionic megacolon, Hypopigmentation of...	ORPHA:894
Oculotrichoanal Syndrome	Microphthalmia, Anal stenosis, Anophthalmia, Abnormal hair pattern, Anteriorly placed anus	ORPHA:2717
Martinez-Frias Syndrome	Intestinal hypoplasia, Tracheoesophageal fistula, Intestinal malrotation, Jejunal atresia, Duoden...	OMIM:601346
Oculocerebrocutaneous Syndrome	Microphthalmia, Cleft palate, Anophthalmia, Alopecia	OMIM:164180
Obesity And Hypopigmentation	Obesity, Red hair	OMIM:620195
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior	ORPHA:101039
Alpha-Heavy Chain Disease	Abnormal small intestine morphology, Alopecia	ORPHA:100025
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Sel...	OMIM:619827
Foveal Hypoplasia 2	Microphthalmia, Hypoplasia of the fovea	OMIM:609218
Dihydropyrimidine Dehydrogenase Deficiency	Failure to thrive, Microphthalmia	OMIM:274270
Fanconi Anemia, Complementation Group J	Microphthalmia, Multiple cafe-au-lait spots	OMIM:609054
Fanconi Anemia, Complementation Group G	Microphthalmia, Multiple cafe-au-lait spots	OMIM:614082
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Xk Aprosencephaly Syndrome	Microphthalmia, Anal atresia	ORPHA:3469
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption	OMIM:221400
Acquired Hypertrichosis Lanuginosa	Hypopigmentation of hair, Glossitis, Abnormal eyebrow morphology, Generalized hirsutism, Weight l...	ORPHA:2221
Fryns Microphthalmia Syndrome	Bilateral cleft palate, Microphthalmia, Anophthalmia	OMIM:600776
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:617182
Nk-Cell Enteropathy	Duodenal ulcer, Gastroesophageal reflux, Abnormal gastric mucosa morphology, Colonic diverticula,...	ORPHA:263665
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Hirsutism, Unilateral microphthalmos, Anal atresia	OMIM:619318
Trichothiodystrophy 4, Nonphotosensitive	Nail dysplasia, Trichorrhexis nodosa, Nail dystrophy, Microphthalmia, Small nail, Brittle hair, A...	OMIM:234050
Mmep Syndrome	Microphthalmia	ORPHA:3434
Biemond Syndrome Type 2	Obesity, Microphthalmia	ORPHA:141333
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Intestinal obstruction, Intestinal malrotation, Enterocolitis, Hematochezia, Colon...	OMIM:243150
Warburg Micro Syndrome 1	Failure to thrive, Microphthalmia, Facial hypertrichosis, Hypertrichosis	OMIM:600118
17Q12 Microduplication Syndrome	Microphthalmia, Cleft palate, Tracheoesophageal fistula, Synophrys	ORPHA:261272
Trichohepatoenteric Syndrome 2	Trichorrhexis nodosa, Villous atrophy, Brittle hair, Uncombable hair, Woolly hair, Failure to thr...	OMIM:614602
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Microphthalmia, Isolated 5	Microphthalmia, Bone spicule pigmentation of the retina	OMIM:611040
Secondary Short Bowel Syndrome	Steatorrhea, Aganglionic megacolon, Small intestinal dysmotility, Failure to thrive, Volvulus, En...	ORPHA:95427
Waardenburg Syndrome	Premature graying of hair, Hypopigmented skin patches, Intestinal obstruction, Aganglionic megaco...	ORPHA:3440
Trichothiodystrophy 3, Photosensitive	Trichorrhexis nodosa, Microphthalmia, Brittle hair, Meckel diverticulum, Tiger tail banding, Pylo...	OMIM:616395
Prader-Willi Syndrome Due To Imprinting Mutation	Iris hypopigmentation, Obesity, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:177910
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
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior	OMIM:615516
Frontonasal Dysplasia 3	Sparse eyelashes, Microphthalmia, Cleft palate, Absent eyebrow	OMIM:613456
Obesity Due To Prohormone Convertase I Deficiency	Childhood-onset truncal obesity, Red hair, Hypopigmentation of the skin, Failure to thrive, Obesity	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Childhood-onset truncal obesity, Red hair, Hypopigmentation of the skin, Failure to thrive, Obesity	ORPHA:71526
Cofs Syndrome	Microphthalmia, Abnormality of retinal pigmentation	ORPHA:1466
Trichothiodystrophy 1, Photosensitive	Trichorrhexis nodosa, Nail dystrophy, Microphthalmia, Intestinal obstruction, Small nail, Brittle...	OMIM:601675
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Intestinal atresia, Duodenal atresia	ORPHA:3405
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Duodenal stenosis	ORPHA:2547
Pierpont Syndrome	High anterior hairline, Microphthalmia, Small for gestational age	ORPHA:487825
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Oculocutaneous Albinism Type 1	Iris transillumination defect, Generalized hypopigmentation, Iris hypopigmentation, White eyelash...	ORPHA:352731
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Nail dysplasia, Nail dystrophy, Protein-losing enteropathy, Hyperpigmentation of the skin, Glossi...	OMIM:175500
Pierpont Syndrome	Failure to thrive, High anterior hairline, Microphthalmia, Decreased body weight	OMIM:602342
Seckel Syndrome 2	Microphthalmia, Small for gestational age, Few cafe-au-lait spots, Microglossia	OMIM:606744
Congenital Contractural Arachnodactyly	High palate, Tracheoesophageal fistula, Intestinal malrotation, Slender build, Duodenal atresia	ORPHA:115
Duodenal Ulcer, Hyperpepsinogenemic I	Duodenal ulcer	OMIM:126850
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Oculocutaneous Albinism Type 1B	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret...	ORPHA:79434
Oculocutaneous Albinism Type 2	Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi...	ORPHA:79432
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac...	OMIM:620141
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Cleft palate, High palate	ORPHA:1135
Inflammatory Skin And Bowel Disease, Neonatal, 1	Onychogryposis, Duodenitis, Failure to thrive, Paronychia, Villous atrophy	OMIM:614328
Chronic Diarrhea Due To Glucoamylase Deficiency	Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology	ORPHA:103907
Curry-Jones Syndrome	Hypopigmented skin patches, Intestinal malrotation, Microphthalmia, Generalized hirsutism	ORPHA:1553
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Vogt-Koyanagi-Harada Disease	Hypopigmented skin patches, Premature graying of hair, Abnormal eyelash morphology, Sparse scalp ...	ORPHA:3437
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Esophageal atresia, Tracheoesophageal fistula, Low posterior hairline, Cafe-au-lait spot, Submuco...	OMIM:619227
Microphthalmia, Syndromic 11	Microphthalmia, Cleft palate	OMIM:614402
Mitchell-Riley Syndrome	Meckel diverticulum, Intestinal malrotation, Acholic stools, Jejunal atresia, Anteriorly placed a...	OMIM:615710
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Tremor-Nystagmus-Duodenal Ulcer Syndrome	Duodenal ulcer	ORPHA:3350
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Duodenal Ulcer Due To Antral G-Cell Hyperfunction	Duodenal ulcer	OMIM:126840
Congenital Toxoplasmosis	Failure to thrive in infancy, Microphthalmia, Abnormality of retinal pigmentation	ORPHA:858
Histidinemia	Hyperactivity	ORPHA:2157
Fanconi Anemia, Complementation Group S	Narrow palate, Microphthalmia, Long eyelashes, Failure to thrive, Low anterior hairline, Sparse hair	OMIM:617883
Rodrigues Blindness	Fine hair, Microphthalmia, Sparse hair	OMIM:268320
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Failure to thrive, Abnormality of skin pigmentation, Dysphagia, Hypertrichosis	OMIM:612379
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Hypercholanemia, Familial 1	Failure to thrive, Steatorrhea, Fat malabsorption	OMIM:607748
Bresek Syndrome	Microphthalmia, Aganglionic megacolon, Optic nerve hypoplasia, Cleft palate, Alopecia	ORPHA:85284
Pancreatic Lipase Deficiency	Steatorrhea, Fat malabsorption	OMIM:614338
Linear Skin Defects With Multiple Congenital Anomalies 2	Highly arched eyebrow, Nail dystrophy, Microphthalmia	OMIM:300887
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Obesity, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:411515
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Bilateral cleft palate, Microphthalmia	ORPHA:1473
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Small for gestational age, Sparse hair	OMIM:610756
Fryns Syndrome	Microphthalmia, Aganglionic megacolon, Hypoplastic fingernail, Gastroesophageal reflux, Ectopic a...	ORPHA:2059
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:301013
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Colitis, Hypopigmentation of the skin, Inflammation of the large intest...	OMIM:203300
Microphthalmia, Syndromic 8	Microphthalmia, Cleft palate	OMIM:601349
Hermansky-Pudlak Syndrome 3	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:614072
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Hypoplasia of the ...	ORPHA:79431
Deafness, X-Linked 7	Thick eyebrow, Unilateral microphthalmos	OMIM:301018
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anal stenosis, Anophthalmia, Abnormality of the hairline, Anteriorly placed anus	OMIM:248450
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, High, narrow palate, Abnormal hair morphology, Hyperpigmented nevi, Opt...	OMIM:607597
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Obesity, Microphthalmia	OMIM:601794
Duodenal Atresia	Duodenal atresia	ORPHA:1203
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Protein-losing enteropathy	OMIM:619063
Developmental Delay With Variable Neurologic And Brain Abnormalities	Sparse lateral eyebrow, Microphthalmia	OMIM:619694
Ring Chromosome 10 Syndrome	Cachexia, Microphthalmia, Aganglionic megacolon	ORPHA:1438
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Intestinal malrotation, Duodenal atresia	OMIM:619608
Joubert Syndrome 37	Obesity, Microphthalmia, High palate, Sparse hair	OMIM:619185
Fanconi Anemia, Complementation Group F	Microphthalmia, Hyperpigmentation of the skin, Cafe-au-lait spot, Failure to thrive, Duodenal atr...	OMIM:603467
Sandestig-Stefanova Syndrome	Microphthalmia, Highly arched eyebrow, Laterally extended eyebrow, High palate, Sparse medial eye...	OMIM:618804
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Obesity, Microphthalmia	ORPHA:363741
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Macroglossia	OMIM:613155
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Ocular albinism, White hair, Hypoplasia of the fovea, Albinism, Blue ir...	OMIM:203100
Meckel Syndrome, Type 8	Microphthalmia, Cleft palate, Anophthalmia	OMIM:613885
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Gastroesophageal reflux, Failure to thrive, Dysphagia, Hypopigmentation of hair	ORPHA:70472
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Failure to thrive, Microphthalmia, Enterocolitis	OMIM:301108
Stromme Syndrome	Microphthalmia, Optic nerve hypoplasia, Intestinal malrotation, Cleft palate, Jejunal atresia, Du...	OMIM:243605
Congenital Tufting Enteropathy	Abnormal large intestinal mucosa morphology, Steatorrhea, Elevated fecal osmolality, Abnormal sma...	ORPHA:92050
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Dysphagia	OMIM:308350
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens, Low posterior hairline, Iris hypopigmentation, Ab...	ORPHA:85194
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Braddock-Carey Syndrome 2	Microphthalmia, Cleft palate	OMIM:619981
Matthew-Wood Syndrome	Failure to thrive, Microphthalmia, Duodenal stenosis, Anophthalmia	ORPHA:2470
Hartsfield Syndrome	Microphthalmia, Cleft palate	ORPHA:2117
Ataxia-Telangiectasia	Premature graying of hair, Failure to thrive, Multiple cafe-au-lait spots, Hypopigmentation of hair	ORPHA:100
Adams-Oliver Syndrome 2	Alopecia, Microphthalmia, Low anterior hairline, Small nail	OMIM:614219
Frontonasal Dysplasia 1	Microphthalmia, Median cleft palate, Widow's peak	OMIM:136760
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia, Highly arched eyebrow, Abnormal gastrointestinal tract morphology, Intestinal mal...	ORPHA:404440
Baraitser-Winter Syndrome 2	Highly arched eyebrow, Microphthalmia	OMIM:614583
Cerebrooculofacioskeletal Syndrome 1	Failure to thrive, Microphthalmia, Hirsutism, Small for gestational age	OMIM:214150
Incontinentia Pigmenti	Nail dysplasia, Breast hypoplasia, Nail dystrophy, Microphthalmia, Ridged nail, Breast aplasia, O...	OMIM:308300
Fanconi Anemia, Complementation Group B	Esophageal atresia, Optic disc hypoplasia, Tracheoesophageal fistula, Duodenal atresia	OMIM:300514
Congenital Enterocyte Heparan Sulfate Deficiency	Protein-losing enteropathy, Hematochezia, Weight loss	ORPHA:103910
Tremor, Nystagmus, And Duodenal Ulcer	Duodenal ulcer	OMIM:190310
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal malrotation, Pyloric stenosis, Congenital shortened small intestine, Intestinal pseudo...	OMIM:300048
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia, Scarring alopecia of scalp, Abnormality of the nail, High palate, Patchy alopecia...	ORPHA:35173
Agammaglobulinemia 4, Autosomal Recessive	Protein-losing enteropathy	OMIM:613502
Chylomicron Retention Disease	Failure to thrive, Steatorrhea, Accumulation of lipid droplets in small-bowel enterocytes	OMIM:246700
Monosomy 18P	Microphthalmia, Cleft palate, Low posterior hairline, Alopecia	ORPHA:1598
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Duodenal atresia	ORPHA:3004
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia, High palate, Retinal pigment epithelial mottling, Sparse hair	OMIM:614105
Esophageal Atresia	Gastrointestinal carcinoma, Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal...	ORPHA:1199
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse hair, Fi...	ORPHA:1806
Eosinophilic Gastroenteritis	Steatorrhea, Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Hematochezia,...	ORPHA:2070
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Esophageal atresia, Cleft soft palate	OMIM:614526
Triokinase And Fmn Cyclase Deficiency Syndrome	Failure to thrive in infancy, Microphthalmia	OMIM:618805
Adams-Oliver Syndrome	Microphthalmia, Gastrointestinal hemorrhage, Hypoplastic fingernail, Aplastic/hypoplastic toenail...	ORPHA:974
Acrodysostosis 2 With Or Without Hormone Resistance	Blue irides, Obesity, Red hair, Fair hair	OMIM:614613
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Low anterior hairline	OMIM:613153
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Alopecia of scalp, Bilateral cleft palate, High palate, Unilateral microphthalmos, Ankyloglossia,...	OMIM:618874
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia	ORPHA:48431
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia, Duodenal ulcer, Steatorrhea	ORPHA:3217
Waardenburg Syndrome, Type 4C	Hypopigmented skin patches, Premature graying of hair, Aganglionic megacolon, Heterochromia iridi...	OMIM:613266
Nasopalpebral Lipoma-Coloboma Syndrome	Sparse eyebrow, Microphthalmia, Widow's peak	OMIM:167730
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Aggressive behavior	ORPHA:85327
Trigonocephaly 1	Meckel diverticulum, High, narrow palate, Synophrys	OMIM:190440
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Rectal polyposis, Small intestinal polyposis, Hematochezia, Adenomatous colonic polyposis, Duoden...	ORPHA:329971
Congenital Fibrinogen Deficiency	Microphthalmia, Abnormality of the subungual region, Volvulus	ORPHA:335
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Congenital Rubella Syndrome	Microphthalmia, Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the iris	ORPHA:290
Griscelli Syndrome Type 2	Premature graying of hair, Partial albinism, Iris hypopigmentation, Hypopigmentation of hair	ORPHA:79477
Meckel Syndrome, Type 2	Intestinal malrotation, Microphthalmia, Cleft palate	OMIM:603194
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Esophageal atresia, Tracheoesophageal fistula, Anophthalmia	ORPHA:77298
Intellectual Developmental Disorder, Autosomal Dominant 53	Intestinal malrotation, Frontal upsweep of hair, Duodenal atresia, Gastrointestinal dysmotility	OMIM:617798
Anterior Segment Dysgenesis 5	Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris	OMIM:604229
Cat Eye Syndrome	Microphthalmia, Rectal fistula, Anal stenosis, Meckel diverticulum, Anal atresia, Intestinal malr...	OMIM:115470
Lissencephaly 8	Microphthalmia	OMIM:617255
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Iris transillumination defect, Microphthalmia, Decreased body weight, Generalized hypopigmentation	OMIM:617306
Alg6-Cdg	Failure to thrive, Protein-losing enteropathy, Macroglossia	ORPHA:79320
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Esophageal atresia, Rectovaginal fistula, Anophthalmia, Gastroesophageal reflux, ...	ORPHA:2538
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Fine hair, Microphthalmia, Alopecia	ORPHA:228390
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	High, narrow palate, Microphthalmia, Gastroesophageal reflux, Cleft palate, Dysphagia, Anteriorly...	OMIM:618494
Microphthalmia With Brain And Digit Anomalies	Nail dysplasia, Microphthalmia, High palate, Anophthalmia	ORPHA:139471
Garg-Mishra Progeroid Syndrome	Cafe-au-lait spot, Microphthalmia, Sparse hair, Small nail	OMIM:620601
Trisomy 13	Microphthalmia, High, narrow palate, Anophthalmia, Abnormal eyelash morphology, Cleft palate, Apl...	ORPHA:3378
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia	ORPHA:93267
Fryns Syndrome	Large for gestational age, Microphthalmia, Aganglionic megacolon, Esophageal atresia, Facial hirs...	OMIM:229850
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microphthalmia, Decreased body weight	OMIM:614833
Kapur-Toriello Syndrome	Intestinal malrotation, Failure to thrive, Microphthalmia	ORPHA:2328
Fanconi Anemia, Complementation Group W	Duodenal atresia	OMIM:617784
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Protein-losing enteropathy, Synophrys	OMIM:618154
Moebius Syndrome	Microphthalmia, Abnormality of the nail, High palate, Bifid uvula, Dysphagia	OMIM:157900
Attenuated Familial Adenomatous Polyposis	Neoplasm of the stomach, Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the colon, Lar...	ORPHA:220460
Hoyeraal-Hreidarsson Syndrome	Premature graying of hair, Nail dystrophy, Sparse scalp hair, Failure to thrive, Oral leukoplakia...	ORPHA:3322
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Down Syndrome	Narrow palate, Aganglionic megacolon, Gastroesophageal reflux, Anal atresia, Protruding tongue, O...	ORPHA:870
Focal Dermal Hypoplasia	Microphthalmia, Gastroesophageal reflux, Duodenal atresia, Abnormality of the nail, Hypoplasia of...	ORPHA:2092
Ermine Phenotype	Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Iris hypopigme...	ORPHA:999
Annular Pancreas	High intestinal obstruction, Duodenal stenosis	ORPHA:675
Pancreas, Annular	High intestinal obstruction, Duodenal stenosis	OMIM:167750
Frontofacionasal Dysplasia	Microphthalmia, Cleft palate, Brushfield spots, Aplasia/Hypoplasia of the eyebrow, Absent inner e...	ORPHA:1791
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Protruding tongue, Iris hypopigmentation,...	ORPHA:411511
Baraitser-Winter Syndrome 1	Highly arched eyebrow, Failure to thrive, Microphthalmia, Low posterior hairline	OMIM:243310
Mosaic Variegated Aneuploidy Syndrome 2	Cafe-au-lait spot, Small for gestational age, Sparse hair, Duodenal atresia	OMIM:614114
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Intestinal polyposis, Stomach cancer, Multiple cafe-au-lait spots, Abnormality of...	ORPHA:1052
Congenital Disorder Of Glycosylation, Type Ib	Failure to thrive, Steatorrhea, Protein-losing enteropathy, Villous atrophy	OMIM:602579
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmented skin patches, High, narrow palate, Hypopigmentation of hair, Hyperpigmentation of t...	ORPHA:3214
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia	OMIM:613730
Squalene Synthase Deficiency	Failure to thrive in infancy, Optic nerve hypoplasia, Abnormality of hair pigmentation	OMIM:618156
Curry-Jones Syndrome	High anterior hairline, Microphthalmia, Anal stenosis, Intestinal pseudo-obstruction, Hirsutism, ...	OMIM:601707
Congenital Primary Aphakia	Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita...	ORPHA:83461
Muenke Syndrome	Hypopigmented skin patches, Hypermelanotic macule, High, narrow palate, Hypopigmentation of hair	ORPHA:53271
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia, Abnormal eyelash morphology, High palate, Failure to thrive, Cleft ...	OMIM:206920
Rere-Related Neurodevelopmental Syndrome	Gastroesophageal reflux, Microphthalmia, Broad eyebrow, Dysphagia	ORPHA:494344
Subaortic Stenosis-Short Stature Syndrome	Obesity, Microphthalmia	ORPHA:3191
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Protruding tongue, Iris hypopigmentation,...	ORPHA:98795
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Anteriorly placed anus, Anal atresia, Ocular albinism	ORPHA:1352
Hydrolethalus	Microphthalmia, Anophthalmia, Bifid uvula, Cleft palate, Submucous cleft hard palate	ORPHA:2189
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Duodenal ulcer, Esophageal ulceration, Gastric ulcer	OMIM:618372
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	High anterior hairline, Microphthalmia, Synophrys, Sparse eyebrow, Cleft palate, Thick eyebrow, S...	OMIM:620098
3Q29 Microduplication Syndrome	Microphthalmia, Aniridia, Ectopic anus, High palate, Obesity, Cleft palate	ORPHA:251038
Rothmund-Thomson Syndrome, Type 2	Premature graying of hair, Nail dystrophy, Microphthalmia, Absent eyelashes, High palate, Sparse ...	OMIM:268400
Gracile Bone Dysplasia	Failure to thrive, Microphthalmia, Aniridia, Ankyloglossia	OMIM:602361
Cohen Syndrome	Microphthalmia, High, narrow palate, Thick hair, Abnormal eyelash morphology, Long eyelashes, Abn...	ORPHA:193
Systemic Sclerosis	Irregular hyperpigmentation, Nail bed telangiectasia, Abnormality of the gastrointestinal tract, ...	ORPHA:90291
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp...	ORPHA:2334
Alg1-Cdg	Protein-losing enteropathy, Abnormality of the gastrointestinal tract	ORPHA:79327
Bartsocas-Papas Syndrome 2	Bilateral cleft palate, Microphthalmia	OMIM:619339
Myoclonic-Astatic Epilepsy	Microphthalmia, Frontal balding	ORPHA:1942
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, High palate, Horizontal eyebrow, Low anterior hairline, Frontal upsweep...	ORPHA:369891
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Unilateral microphthalmos	OMIM:615085
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Meckel Syndrome, Type 5	Microphthalmia, Cleft palate	OMIM:611561
Multiple Benign Circumferential Skin Creases On Limbs	Irregular hyperpigmentation, Microphthalmia, Cleft palate, Generalized hirsutism	ORPHA:2505
Oculofaciocardiodental Syndrome	Microphthalmia, Highly arched eyebrow, Intestinal malrotation, Cleft palate, Submucous cleft hard...	ORPHA:2712
Hypohidrotic Ectodermal Dysplasia	Irregular hyperpigmentation, Trichorrhexis nodosa, Breast aplasia, Abnormality of the nail, Abnor...	ORPHA:238468
Mpi-Cdg	Failure to thrive, Gastrointestinal hemorrhage, Protein-losing enteropathy	ORPHA:79319
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Warburg Micro Syndrome 3	Narrow palate, Microphthalmia, Low anterior hairline, Hypertrichosis	OMIM:614222
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia, Abnormal eyelash morphology, Sparse eyebrow, Widow's peak	ORPHA:2399
Fetal Alcohol Syndrome	Microphthalmia, Cleft palate, Generalized hirsutism	ORPHA:1915
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, High palate	OMIM:619053
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Duodenal ulcer, Rectal prolapse, Esophageal food impaction, Gastroesophageal reflux, Intestinal p...	OMIM:147060
Oculopalatocerebral Syndrome	Microphthalmia, Cleft palate	OMIM:257910
Temtamy Syndrome	Highly arched eyebrow, Microphthalmia	OMIM:218340
Waardenburg Syndrome, Type 2E	Premature graying of hair, Hypopigmented skin patches, Heterochromia iridis, Hypoplasia of the ir...	OMIM:611584
Microphthalmia, Syndromic 5	Optic nerve hypoplasia, Microphthalmia, Cleft palate, Anophthalmia	OMIM:610125
Feingold Syndrome	Esophageal atresia, Duodenal atresia	ORPHA:1305
Marden-Walker Syndrome	High, narrow palate, Microphthalmia, High palate, Pyloric stenosis, Cleft palate, Zollinger-Ellis...	OMIM:248700
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Gastroesophageal reflux, High palate, Furrowed tongue, Cleft palate, Sparse hair	OMIM:616449
Warburg Micro Syndrome 4	Microphthalmia, Hirsutism, Low anterior hairline	OMIM:615663
Fanconi Anemia, Complementation Group N	Microphthalmia, Hyperpigmentation of the skin, Anal atresia, Cafe-au-lait spot, Small for gestati...	OMIM:610832
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia, Cleft palate, High palate	ORPHA:163649
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia, Broad eyebrow, Gastroesophageal reflux, Small nail, Duodenal atresia, High palate...	OMIM:616975
Fanconi Anemia, Complementation Group I	Cafe-au-lait spot, Optic nerve hypoplasia, Microphthalmia, Decreased body weight	OMIM:609053
Kapur-Toriello Syndrome	Intestinal malrotation, Microphthalmia, Cleft palate, Low posterior hairline	OMIM:244300
Fanconi Anemia, Complementation Group R	Microphthalmia, Anal atresia	OMIM:617244
Mungan Syndrome	Hypoperistalsis, Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum	OMIM:611376
Carney Complex, Type 1	Multiple lentigines, Red hair, Hirsutism, Profuse pigmented skin lesions, Freckling	OMIM:160980
Stevenson-Carey Syndrome	Microphthalmia, Gastroesophageal reflux	OMIM:611961
Anterior Segment Dysgenesis 2	Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia	OMIM:610256
Chromosome 13Q33-Q34 Deletion Syndrome	Microphthalmia, High palate, Anal atresia, Cafe-au-lait spot, Pyloric stenosis, Anteriorly placed...	OMIM:619148
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Small nail, High palate, Sparse eyebrow, Cleft palate, Supernumerary nipple	OMIM:612530
Neurooculocardiogenitourinary Syndrome	Microphthalmia	OMIM:618652
Incontinentia Pigmenti	Irregular hyperpigmentation, Hypopigmented skin patches, Microphthalmia, Hypoplastic fingernail, ...	ORPHA:464
Refractory Celiac Disease	Protein-losing enteropathy, Jejunitis, Weight loss, Villous atrophy	ORPHA:398063
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Cafe-au-lait spot, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:618541
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Microphthalmia, Macroglossia	ORPHA:370959
Frontonasal Dysplasia 2	Microphthalmia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Alopecia totalis, Fine hair	OMIM:613451
Syndromic Diarrhea	Trichorrhexis nodosa, Villous atrophy, Gastritis, Hypopigmentation of hair, Brittle hair, General...	ORPHA:84064
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia, Sparse eyelashes, Failure to thrive, Sparse hair, Fine hair	OMIM:257850
Congenital Tracheal Stenosis	Meckel diverticulum, Abnormal gastrointestinal tract morphology, Anal atresia, Tracheoesophageal ...	ORPHA:141127
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia, Patchy alopecia, Sparse eyelashes, Failure to thrive, Sparse eyebrow, Sparse hair	OMIM:302960
Classic Phenylketonuria	Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:79254
3P25.3 Microdeletion Syndrome	High, narrow palate, Microphthalmia, Cleft palate, Pyloric stenosis	ORPHA:435638
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Premature graying of hair, Hypopigmented skin patches, Aganglionic megacolon, Hypopigmentation of...	ORPHA:163746
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypopigmentation of hair, Hypopigmentation of the skin, Protruding tongue, Iris hypopigmentation,...	ORPHA:98794
Distal Deletion 12Q	High, narrow palate, Esophageal atresia, Small nail, Pyloric stenosis, Obesity, Microglossia, Fai...	ORPHA:96149
Micro Syndrome	High palate, Microphthalmia, Abnormality of retinal pigmentation, Generalized hirsutism	ORPHA:2510
3Q29 Microdeletion Syndrome	Microphthalmia, Gastroesophageal reflux, High palate, Failure to thrive, Abnormality of skin pigm...	ORPHA:65286
Oculoskeletodental Syndrome	Protein-losing enteropathy, Low posterior hairline, Low anterior hairline, Macroglossia, Small fo...	OMIM:618440
Encephalocraniocutaneous Lipomatosis	Microphthalmia, Hypoplasia of the iris, Linear hyperpigmentation, Alopecia	OMIM:613001
Refsum Disease	Nail dysplasia, Microphthalmia, Abnormality of retinal pigmentation	ORPHA:773
Cog8-Cdg	Failure to thrive, Protein-losing enteropathy	ORPHA:95428
Feingold Syndrome Type 1	Gastrointestinal atresia, Esophageal atresia, Anal atresia, Jejunal atresia, Duodenal atresia	ORPHA:391641
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Fraser Syndrome 2	Microphthalmia, Anal atresia, Intestinal malrotation, Low anterior hairline, Rectal atresia	OMIM:617666
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Small nail, Synophrys, Cafe-au-lait spot, Failure to thrive, Cleft palate, Thin e...	ORPHA:364577
Heart And Brain Malformation Syndrome	High, narrow palate, Microphthalmia, Gastroesophageal reflux	OMIM:616920
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Vitreoretinochoroidopathy	Microphthalmia, Pigmentary retinopathy	OMIM:193220
Ohdo Syndrome, X-Linked	High anterior hairline, Microphthalmia, Decreased body weight, High palate, Cafe-au-lait spot, Sp...	OMIM:300895
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Optic disc hypoplasia, Duodenal polyposis, Adenomatous colonic polyposis, High palate, Low poster...	ORPHA:261584
Congenital Disorder Of Glycosylation, Type Ih	Failure to thrive, Protein-losing enteropathy	OMIM:608104
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma	OMIM:618914
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Obesity, Red hair	OMIM:609734
Microform Holoprosencephaly	Cleft palate, Duodenal atresia	ORPHA:280200
Teebi-Shaltout Syndrome	Microphthalmia, High, narrow palate, Highly arched eyebrow, Slow-growing hair, Cleft palate, Low ...	OMIM:272950
Mosaic Variegated Aneuploidy Syndrome 1	Cleft palate, Small for gestational age, Duodenal atresia	OMIM:257300
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic nerve hypoplasia, Bilateral microphthalmos, Severe failure to thrive, Duodenal atresia	ORPHA:468631
Hallermann-Streiff Syndrome	Microphthalmia, High, narrow palate, Abnormality of hair texture, Glossoptosis, Sparse eyelashes,...	ORPHA:2108
Martsolf Syndrome 1	Microphthalmia, High palate, Low posterior hairline, Abnormal toenail morphology, Low anterior ha...	OMIM:212720
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Rectal prolapse, Protein-losing enteropathy, Melena, High, narrow pa...	ORPHA:79076
Joubert Syndrome 14	Highly arched eyebrow, Microphthalmia, Cleft palate	OMIM:614424
Hallermann-Streiff Syndrome	Narrow palate, Microphthalmia, High, narrow palate, High palate, Sparse scalp hair, Sparse eyelas...	OMIM:234100
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Horizontal eyebrow, Microphthalmia, Cleft palate	OMIM:618571
Dyrk1A-Related Intellectual Disability Syndrome	Breast hypoplasia, Gastroesophageal reflux, Pyloric stenosis, Failure to thrive, Small for gestat...	ORPHA:464306
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia, Bifid uvula, Cleft palate, Submucous cleft hard palate	ORPHA:899
Blepharophimosis, Ptosis, And Epicanthus Inversus	Highly arched eyebrow, Microphthalmia, High palate, Sparse pubic hair	OMIM:110100
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Small nail, Long eyebrows, Long eyelashes, Cleft palate, Widow's peak	OMIM:201180
Holoprosencephaly 13, X-Linked	Gastroesophageal reflux, Optic nerve hypoplasia, Median cleft palate, Septo-optic dysplasia, Clef...	OMIM:301043
Oculodentodigital Dysplasia	Microphthalmia, Slow-growing hair, High palate, Fragile nails, Cleft palate, Sparse hair, Fine ha...	OMIM:164200
Frontorhiny	Bifid tongue, Microphthalmia, Cleft palate, Widow's peak	ORPHA:391474
Visceral Myopathy 1	Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Intestinal pseudo-obstruc...	OMIM:155310
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia, Hypoplastic nipples, High palate, Cleft palate	OMIM:156610
Galloway-Mowat Syndrome 1	Microphthalmia, Small nail, Hypopigmentation of the skin, High palate, Hypoplasia of the iris, Sm...	OMIM:251300
Miller-Dieker Lissencephaly Syndrome	Failure to thrive, Cleft palate, Duodenal atresia	OMIM:247200
Koolen-De Vries Syndrome	Narrow palate, High, narrow palate, Hypopigmentation of hair, Abnormality of hair texture, Pylori...	ORPHA:96169
Chediak-Higashi Syndrome	Hypopigmentation of hair, Silver-gray hair, Hypopigmentation of the skin, Giant melanosomes in me...	OMIM:214500
Zollinger-Ellison Syndrome	Peptic ulcer, Duodenal ulcer, Gastrointestinal hemorrhage, Intestinal obstruction, Esophagitis, H...	ORPHA:913
Meckel Syndrome, Type 4	Microphthalmia, Cleft palate	OMIM:611134
Tetraamelia-Multiple Malformations Syndrome	Anal atresia, Microphthalmia, Septo-optic dysplasia	ORPHA:3301
Familial Adenomatous Polyposis 4	Gastric adenocarcinoma, Duodenal polyposis, Adenomatous colonic polyposis	OMIM:617100
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Vacterl With Hydrocephalus	Microphthalmia, Esophageal atresia, Anophthalmia, Anal atresia, Tracheoesophageal fistula	ORPHA:3412
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
Feingold Syndrome 1	Gastrointestinal atresia, Esophageal atresia, High palate, Tracheoesophageal fistula, Jejunal atr...	OMIM:164280
Degcags Syndrome	Premature graying of hair, Microphthalmia, Hypopigmentation of the skin, Low posterior hairline, ...	OMIM:619488
Linear Skin Defects With Multiple Congenital Anomalies 3	Failure to thrive, Microphthalmia, Hyperpigmented streaks	OMIM:300952
Gardner Syndrome	Gastrointestinal carcinoma, Adenomatous colonic polyposis, Pilomatrixoma, Small intestine carcino...	ORPHA:79665
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abnormally large globe, Protein-losing enteropathy, High palate, Hypertrichosis	ORPHA:1655
Jacobsen Syndrome	Aplasia/Hypoplasia of the eyebrow, Ectopic anus, Intestinal malrotation, Pyloric stenosis, Abnorm...	ORPHA:2308
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Linear Nevus Sebaceus Syndrome	Irregular hyperpigmentation, Microphthalmia, Melanocytic nevus, Alopecia	ORPHA:2612
Ritscher-Schinzel Syndrome 3	Highly arched eyebrow, Microphthalmia	OMIM:619135
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Freckling, Pigmentary retinopathy	OMIM:610651
Cerebrooculofacioskeletal Syndrome 4	Failure to thrive in infancy, Bilateral microphthalmos, Decreased body weight	OMIM:610758
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Hypopigmentation of hair, Hypopigmentation of the skin, Long eyelash...	ORPHA:79430
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Failure to thrive, Small for gestational age, Gastroesophageal reflux, Duodenal atresia	ORPHA:464311
Aicardi Syndrome	Microphthalmia, Intestinal polyposis, Gastroesophageal reflux, Sparse lateral eyebrow, Abnormalit...	ORPHA:50
Fanconi Anemia, Complementation Group L	Microphthalmia, Esophageal atresia, Tracheoesophageal fistula, Anal atresia, Cafe-au-lait spot, C...	OMIM:614083
Trisomy 18	Narrow palate, Microphthalmia, Esophageal atresia, Cachexia, Anal atresia, Abnormal toenail morph...	ORPHA:3380
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Mosaic Trisomy 9	Microphthalmia, Small nail, High palate, Intestinal malrotation, Cleft palate	ORPHA:99776
Treacher-Collins Syndrome	Microphthalmia, Rectovaginal fistula, Abnormal hair morphology, Absent eyelashes, Glossoptosis, H...	ORPHA:861
Momo Syndrome	Large for gestational age, Bilateral microphthalmos, High palate, Obesity, Hyperconvex nail	ORPHA:2563
Warburg Micro Syndrome 2	Microphthalmia, Low anterior hairline	OMIM:614225
Galloway-Mowat Syndrome 3	Failure to thrive, Microphthalmia, High palate, Hiatus hernia	OMIM:617729
2Q31.1 Microdeletion Syndrome	Microphthalmia, Abnormal hair morphology, Synophrys, Cleft palate, Low anterior hairline, Hypopla...	ORPHA:251014
Fanconi Anemia, Complementation Group E	Cafe-au-lait spot, Microphthalmia, Small for gestational age, Hyperpigmentation of the skin	OMIM:600901
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia, Bifid uvula	OMIM:241410
Microvillus Inclusion Disease	Abnormal small intestinal villus morphology, Villous atrophy	ORPHA:2290
Brittle Cornea Syndrome 1	Red hair	OMIM:229200
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, High, narrow palate, Sparse scalp hair, Furrowed tongue, Sparse eyebrow, Cleft pa...	ORPHA:464738
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Esophageal atresia, Meckel diverticulum, Congenital shortened small intestine, Tracheoesophageal ...	OMIM:265380
Oculo-Palato-Cerebral Syndrome	High, narrow palate, Microphthalmia, Cleft palate, Aplasia/Hypoplasia of the nails	ORPHA:2714
Fanconi Anemia	Hypopigmented skin patches, Irregular hyperpigmentation, Microphthalmia, Aganglionic megacolon, A...	ORPHA:84
Bartsocas-Papas Syndrome 1	Microphthalmia, Anal stenosis, Small nail, Absent eyelashes, Sparse scalp hair, Anal atresia, Abs...	OMIM:263650
Microphthalmia/Coloboma 12	Microphthalmia, Optic nerve aplasia	OMIM:120200
Apc-Related Attenuated Familial Adenomatous Polyposis	Gastrointestinal carcinoma, Duodenal polyposis, Adenomatous colonic polyposis, Pilomatrixoma, Eso...	ORPHA:247806
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Cleft palate, High palate, Pigmentary retinopathy	OMIM:614230
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia, Anal atresia, Sparse eyebrow, Cleft palate, Lobulated tongue, Hamartoma of tongue...	OMIM:616300
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Cleft palate	ORPHA:2728
Plasminogen Deficiency, Type I	Duodenal ulcer	OMIM:217090
Fanconi Anemia, Complementation Group A	Cafe-au-lait spot, Abnormality of skin pigmentation, Microphthalmia, Small for gestational age	OMIM:227650
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Small nail, High palate, Exaggerated median tongue furrow, Synophrys, Cafe-au-lai...	OMIM:608670
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Protein-losing enteropathy, Stomach cancer, Rectal polyposis, Hamart...	ORPHA:2929
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia, Anal atresia, Cleft palate, Colonic atresia, Anteriorly placed anus, Pigmentary r...	OMIM:309801
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Cleft palate, High palate, Protein-losing enteropathy, Hypertrichosis	OMIM:235255
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Lymphedema-Distichiasis Syndrome	Microphthalmia, Yellow nails, Cleft palate, Distichiasis	OMIM:153400
Trichothiodystrophy	Numerous pigmented freckles, Alopecia of scalp, Dystrophic fingernails, Bilateral microphthalmos,...	ORPHA:33364
8Q21.11 Microdeletion Syndrome	Iris hypopigmentation, Microphthalmia, High palate	ORPHA:284160
Duane-Radial Ray Syndrome	Microphthalmia, Aganglionic megacolon, Anal stenosis, Optic disc hypoplasia, Anal atresia	OMIM:607323
Vici Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, High palate, Median cleft palate, Failure...	OMIM:242840
Focal Dermal Hypoplasia	Nail dysplasia, Nail dystrophy, Microphthalmia, Aniridia, Ridged nail, Linear hyperpigmentation, ...	OMIM:305600
Fanconi Anemia, Complementation Group D2	Microphthalmia, Esophageal atresia, Tracheoesophageal fistula, Cafe-au-lait spot, Abnormality of ...	OMIM:227646
Spondyloocular Syndrome	Duodenal ulcer, Decreased body weight, Low posterior hairline	OMIM:605822
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Dubowitz Syndrome	Microphthalmia, Gastroesophageal reflux, High palate, Sparse scalp hair, Hypoplasia of the iris, ...	OMIM:223370
Norrie Disease	Buphthalmos, Microphthalmia, Hypoplasia of the iris	OMIM:310600
Cousin Syndrome	Microphthalmia, Facial hirsutism, Cleft palate, Low anterior hairline, Microglossia	OMIM:260660
Familial Adenomatous Polyposis 1	Duodenal polyposis, Hyperpigmentation of the skin, Adenomatous colonic polyposis, Small intestine...	OMIM:175100
Coffin-Siris Syndrome 1	Duodenal ulcer, Gastric ulcer, High palate, Sparse scalp hair, Long eyelashes, Intestinal malrota...	OMIM:135900
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia, Scarring alopecia of scalp	OMIM:618727
Jacobsen Syndrome	Microphthalmia, Abnormal eyelash morphology, Pyloric stenosis, Failure to thrive, Macular hypoplasia	OMIM:147791
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos, Cleft palate, Facial hirsutism, Microglossia	ORPHA:2839
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Failure to thrive, Obesity, Abdominal obe...	ORPHA:398079
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia, Long eyelashes	OMIM:615877
Mosaic Trisomy 1	Hypoplastic thumbnail, Microphthalmia, Cleft palate, Small nail	ORPHA:1692
Holoprosencephaly	Microphthalmia, Gastroesophageal reflux, Anophthalmia, Highly arched eyebrow, Median cleft palate...	ORPHA:2162
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Narrow palate, Rectal prolapse, Protein-losing enteropathy, Intestinal lymphangiectasia, Hirsutism	OMIM:235510
Joubert Syndrome 2	Failure to thrive, Microphthalmia, High palate	OMIM:608091
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia, Cleft palate, Macroglossia	OMIM:613150
Cockayne Syndrome B	Microphthalmia, Severe failure to thrive, Abnormal hair morphology, Pigmentary retinopathy, Hypop...	OMIM:133540
Microphthalmia With Linear Skin Defects Syndrome	Hypopigmented skin patches, Microphthalmia, Hyperpigmentation of the skin, Abnormality of the nai...	ORPHA:2556
Oculocerebral Hypopigmentation Syndrome, Cross Type	Aplasia/Hypoplasia affecting the eye, Iris hypopigmentation, Hypopigmentation of hair, Ocular alb...	ORPHA:2719
Heterotaxy, Visceral, 1, X-Linked	Posteriorly placed anus, Anal atresia, Failure to thrive, Hypoplastic toenails, Duodenal atresia	OMIM:306955
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology	ORPHA:2847
Microphthalmia, Syndromic 3	Microphthalmia, Esophageal atresia, Anophthalmia, Optic nerve hypoplasia, Optic nerve aplasia	OMIM:206900
Pseudotrisomy 13 Syndrome	Microphthalmia, Median cleft palate, Anal atresia	OMIM:264480
Fontaine Progeroid Syndrome	Microphthalmia, High, narrow palate, Gastroesophageal reflux, Small nail, Hypoplastic nipples, Sp...	OMIM:612289
Premature Aging Syndrome, Penttinen Type	Failure to thrive, Microphthalmia, Sparse hair	OMIM:601812
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia, Low posterior hairline, Anal atresia, Cleft palate, Hamartoma of tongue, Esophage...	OMIM:617925
Fanconi Anemia, Complementation Group C	Cafe-au-lait spot, Microphthalmia, Small for gestational age, Hyperpigmentation of the skin	OMIM:227645
Mycophenolate Mofetil Embryopathy	Microphthalmia, Tracheoesophageal fistula, Hypoplastic toenails	ORPHA:268249
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Gastroesophageal reflux, Increased body weight, Hypopigmentation of the...	ORPHA:398069
1Q21.1 Microdeletion Syndrome	Failure to thrive, Microphthalmia, High palate, Ankyloglossia	ORPHA:250989
Duane Retraction Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Aniridia, Optic disc hypoplasia, Anorect...	ORPHA:233
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia, Bifid uvula, Cleft palate, Submucous cleft hard palate	ORPHA:2250
Immunodeficiency 31C	Protein-losing enteropathy, Gastrointestinal eosinophilia, Weight loss, Intussusception, Villous ...	OMIM:614162
Microcephaly-Micromelia Syndrome	Microphthalmia, Cleft palate	OMIM:251230
Brittle Cornea Syndrome	Cleft palate, Abnormality of hair pigmentation	ORPHA:90354
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Microphthalmia, Buphthalmos, Macular hypoplasia	ORPHA:91495
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Leukonychia, Microphthalmia, Abnormal hair morphology, Anophthalmia, Abnormal eyelash morphology,...	ORPHA:2526
Scedosporiosis	Abnormal jejunum morphology	ORPHA:449280
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Hyperpigmentation of the skin, Stellate iris, Hypopigmentation of the s...	ORPHA:177907
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Microphthalmia, Optic nerve hypoplasia, Anal atresia, Cleft palate, Buphthalmos	OMIM:236670
Pallister-Hall Syndrome	Nail dysplasia, Microphthalmia, Anal atresia, Cleft palate, Microglossia, Anteriorly placed anus	OMIM:146510
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Tarp Syndrome	Glossoptosis, Failure to thrive, Cleft palate, Abnormal hair pattern, Thick eyebrow, Abnormal duo...	ORPHA:2886
Monosomy 9P	Microphthalmia, Thin nail, Highly arched eyebrow, High palate, Low posterior hairline, Synophrys,...	ORPHA:261112
Holoprosencephaly-Postaxial Polydactyly Syndrome	Intestinal malrotation, Microphthalmia, Cleft palate, Anal atresia	ORPHA:2166
Menke-Hennekam Syndrome 2	Duodenal ulcer	OMIM:618333
Fraser Syndrome 1	Bilateral microphthalmos, Anophthalmia, Small nail, Absent eyelashes, Absent eyebrow, Extension o...	OMIM:219000
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Microphthalmia, Buphthalmos	OMIM:221900
Neuroocular Syndrome	Microphthalmia, Short uvula, Brittle hair, Highly arched eyebrow, Small nail, Stellate iris, Dist...	OMIM:619539
Charge Syndrome	Microphthalmia, Anal stenosis, Esophageal atresia, Anophthalmia, Unilateral microphthalmos, Trach...	OMIM:214800
Mend Syndrome	Microphthalmia, High palate, Failure to thrive, Cleft palate, Spotty hypopigmentation	ORPHA:401973
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Hypopigmentation of hair, High palate, Coarse hair, Widow's peak	ORPHA:1974
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Failure to thrive, Iris hypopigmentation,...	ORPHA:98754
Myhre Syndrome	Microphthalmia, Obesity, Cleft palate, Thick eyebrow, Sparse hair, Fine hair, Small for gestation...	OMIM:139210
Atelis Syndrome 2	Microphthalmia, High palate, Gastroesophageal reflux	OMIM:620185
Immunodeficiency 82 With Systemic Inflammation	Duodenal ulcer, Villous atrophy, Gastritis, Anoperineal fistula, Crohn's disease, Weight loss, Co...	OMIM:619381
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of hair, Hypopigmentation of the skin, Failure to thrive, Iris hypopigmentation,...	ORPHA:98793
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Nail dystrophy, Microphthalmia, Gastroesophageal reflux, Small nail, Hypoplastic nipples, Absent ...	OMIM:620186
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of hair, Hypopigmentation of the skin, Failure to thrive, Iris hypopigmentation,...	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of hair, Hypopigmentation of the skin, Failure to thrive, Iris hypopigmentation,...	ORPHA:177901
Microphthalmia, Lenz Type	Microphthalmia	ORPHA:568
Multiple Endocrine Neoplasia Type 1	Hematemesis, Duodenal ulcer, Peptic ulcer, Melena, Gastroesophageal reflux, Large cafe-au-lait ma...	ORPHA:652
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Supernumerary nipple	ORPHA:1236
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia, Abnormality of retinal pigmentation	ORPHA:85167
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia, Sparse eyelashes, Sparse eyebrow, Cleft palate, Widow's peak	ORPHA:306542
Prader-Willi Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Failure to thrive, Abdominal obesity, Xer...	ORPHA:739
22Q11.2 Deletion Syndrome	Hypopigmented skin patches, Microphthalmia, Gastrointestinal hemorrhage, Aganglionic megacolon, A...	ORPHA:567
Cockayne Syndrome Type 3	Premature graying of hair, Microphthalmia, Dry hair, Gastroesophageal reflux	ORPHA:90324
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia	OMIM:253800
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia, High palate, Failure to thrive, Abnormal eyebrow morphology, C...	ORPHA:1106
Renpenning Syndrome 1	Microphthalmia, Brittle hair, High palate, Anal atresia, Sparse lateral eyebrow, Cleft palate, Sp...	OMIM:309500
Iniencephaly	Anal atresia, Duodenal atresia	ORPHA:63259
Whim Syndrome	Abnormal small intestine morphology, Parotitis, Vitiligo	ORPHA:51636
Basal Cell Nevus Syndrome 1	Hamartomatous stomach polyps, Microphthalmia, Cleft palate	OMIM:109400
Holoprosencephaly 7	Bilateral microphthalmos, Microphthalmia, Bilateral cleft palate, Unilateral cleft palate, Median...	OMIM:610828
Oculoauricular Syndrome	Microphakia, Phthisis bulbi, Microphthalmia, Macular hypoplasia	OMIM:612109
Aicardi Syndrome	Microphthalmia, Sparse lateral eyebrow, Cleft palate, Hepatoblastoma, Hiatus hernia	OMIM:304050
Familial Adenomatous Polyposis	Neoplasm of the gallbladder, Duodenal polyposis, Colorectal polyposis, Neoplasm of the gastrointe...	ORPHA:733
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Microphthalmia	OMIM:614643
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Cleft palate, High palate, Synophrys	OMIM:603457
Histiocytoid Cardiomyopathy	Failure to thrive, Microphthalmia, Cleft palate, Congenital aphakia	ORPHA:137675
Branchiooculofacial Syndrome	Premature graying of hair, Microphthalmia, Hypoplastic fingernail, Gastroesophageal reflux, Anoph...	OMIM:113620
Metachromatic Leukodystrophy	Abnormal stomach morphology, Intussusception, Neoplasm of the gallbladder, Abnormal duodenum morp...	ORPHA:512
Oculocerebrorenal Syndrome Of Lowe	Narrow palate, Microphthalmia, Gastroesophageal reflux, Generalized hypopigmentation, Sparse scal...	ORPHA:534
Townes-Brocks Syndrome 1	Anal stenosis, Rectovaginal fistula, Gastroesophageal reflux, Anal atresia, Tracheoesophageal fis...	OMIM:107480
Acro-Renal-Ocular Syndrome	Microphthalmia, Aganglionic megacolon, Optic disc hypoplasia	ORPHA:959
Smith-Lemli-Opitz Syndrome	Aganglionic megacolon, Hypopigmentation of hair, Gastroesophageal reflux, Abnormal eyelash morpho...	ORPHA:818
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Steinfeld Syndrome	Microphthalmia, Bifid uvula, Median cleft palate	OMIM:184705
Meckel Syndrome 14	Microphthalmia	OMIM:619879
Yunis-Varon Syndrome	Microphthalmia, Severe failure to thrive, Bilateral microphthalmos, High, narrow palate, Glossopt...	ORPHA:3472
Phace Association	Optic nerve hypoplasia, Microphthalmia	OMIM:606519
Heterotaxy, Visceral, 5, Autosomal	Intestinal malrotation, Duodenal atresia	OMIM:270100
Monosomy 9Q22.3	Large for gestational age, Microphthalmia	ORPHA:77301
Cockayne Syndrome	Microphthalmia, Gastroesophageal reflux, Cachexia, Pigmentary retinopathy, Abnormality of retinal...	ORPHA:191
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Microphthalmia, Hypertrichosis	ORPHA:508498
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Small for gestational age	OMIM:127000
Pierson Syndrome	Microphthalmia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Rieger anomaly, Macular h...	OMIM:609049
Adams-Oliver Syndrome 1	Microphthalmia, Small nail, Cleft palate, Supernumerary nipple, Alopecia	OMIM:100300
Roberts Syndrome	Microphthalmia, Cleft palate, High palate, Sparse hair	ORPHA:3103
Diets-Jongmans Syndrome	Duodenal atresia	OMIM:618846
Chédiak-Higashi Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Large clumps of pigment irregularly distr...	ORPHA:167
Meckel Syndrome	Microphthalmia, Anophthalmia, Furrowed tongue, Cleft palate, Aplasia/Hypoplasia of the tongue, Ap...	ORPHA:564
Microphthalmia, Syndromic 2	Microphthalmia, Anophthalmia, Decreased body weight, Bifid uvula, Thick eyebrow, Laterally curved...	OMIM:300166
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia, Cleft palate, Low anterior hairline, Synophrys	OMIM:616734
Fraser Syndrome	Microphthalmia, Anal stenosis, Anorectal anomaly, Anophthalmia, Ectopic anus, High palate, Anal a...	ORPHA:2052
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Microphthalmia	OMIM:608940
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Sparse hair	OMIM:620005
Treacher Collins Syndrome 1	Bilateral microphthalmos, Preauricular hair displacement, Cleft soft palate, Cleft palate, Sparse...	OMIM:154500
Frontofacionasal Dysplasia	Absent inner eyelashes, Microphthalmia, Bifid uvula	OMIM:229400
Traboulsi Syndrome	Microphthalmia, Bifid uvula, High palate	OMIM:601552
Menkes Disease	Woolly hair, Gastrointestinal hemorrhage, Hypopigmentation of hair, Sparse hair	ORPHA:565
Hypoplasminogenemia	Duodenal ulcer	ORPHA:722
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia, Frontal balding, Long lower eyelashes, Highly arched eyebrow, High palate, Synoph...	OMIM:612474
Proboscis Lateralis	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, High palate, Abnormal eyebrow morphology, A...	ORPHA:141099
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia, High palate, Aplasia/Hypoplasia of the nails	OMIM:609945
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Charge Syndrome	Microphthalmia, Gastroesophageal reflux, Anophthalmia, Highly arched eyebrow, Abnormal soft palat...	ORPHA:138
Meckel Syndrome, Type 1	Microphthalmia, Anal atresia, Intestinal malrotation, Cleft palate, Lobulated tongue	OMIM:249000
Phace Syndrome	Optic nerve hypoplasia, Microphthalmia, Heterochromia iridis, Lens coloboma	ORPHA:42775
Witteveen-Kolk Syndrome	High anterior hairline, Medial flaring of the eyebrow, Microphthalmia, High, narrow palate, Gastr...	OMIM:613406
Cystinosis, Nephropathic	Hypopigmentation of hair, Hypopigmentation of the skin, Failure to thrive, Dysphagia, Weight loss...	OMIM:219800
Diarrhea 10, Protein-Losing Enteropathy Type	Protein-losing enteropathy, Hematochezia	OMIM:618183
Microphthalmia, Syndromic 9	Bilateral microphthalmos, Anophthalmia	OMIM:601186
Monosomy 13Q14	Microphthalmia, Abnormality of the gastrointestinal tract	ORPHA:1587
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, High palate, Supernumerary nipple	OMIM:613884
Tetraamelia Syndrome 1	Microphthalmia, Cleft palate, Anal atresia	OMIM:273395
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Short hard palate, Optic nerve hypoplasia, Bilateral cleft palate, ...	OMIM:610829
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	High palate, Intestinal malrotation, Cleft palate, Abnormal duodenum morphology, Hiatus hernia	OMIM:601776
Mowat-Wilson Syndrome	Microphthalmia, Aganglionic megacolon, Broad eyebrow, Pyloric stenosis, Cleft palate, Abnormal en...	OMIM:235730
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Protein-losing enteropathy, Esophageal varix, Cholangiocarcinoma, He...	ORPHA:731
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Microphthalmia	OMIM:259770
8Q24.3 Microdeletion Syndrome	Bilateral microphthalmos, Gastrointestinal hemorrhage, Gastroesophageal reflux, Highly arched eye...	ORPHA:508488
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia, High palate, Failure to thrive, Bifid uvula, Cleft palate, Microglo...	OMIM:607932
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Pallister-Hall Syndrome	Nail dysplasia, Large for gestational age, Microphthalmia, Anal atresia, Bifid uvula, Cleft palat...	ORPHA:672
Neu-Laxova Syndrome 1	Absent eyelashes, Microphthalmia, Cleft palate	OMIM:256520
Townes-Brocks Syndrome	Microphthalmia, Rectovaginal fistula, Anal atresia, Rectoperineal fistula, Failure to thrive, Ant...	ORPHA:857
Liver Disease, Severe Congenital	Nail dystrophy, Protein-losing enteropathy, Chronic gastritis, Failure to thrive, Dry hair	OMIM:619991
Norrie Disease	Microphthalmia, Aplasia/Hypoplasia of the lens, Cachexia, Hypoplasia of the iris, Failure to thrive	ORPHA:649
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Microphthalmia	OMIM:309000
Mowat-Wilson Syndrome	Microphthalmia, Aganglionic megacolon, Cleft hard palate, Broad eyebrow, Decreased body weight, H...	ORPHA:2152
Holoprosencephaly 2	Microphthalmia, Bilateral cleft palate, Median cleft palate, Bifid uvula, Submucous cleft hard pa...	OMIM:157170
Holoprosencephaly 1	Microphthalmia, Median cleft palate	OMIM:236100
Microphthalmia, Syndromic 1	Microphthalmia, Aganglionic megacolon, Rectal prolapse, High, narrow palate, Anophthalmia, High p...	OMIM:309800
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia, Aganglionic megacolon, Cleft hard palate, Broad eyebrow, Pyloric stenosis, Failur...	ORPHA:261537
Roberts-Sc Phocomelia Syndrome	Microphthalmia, High palate, Cafe-au-lait spot, Cleft palate, Sparse hair	OMIM:268300
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia, Aganglionic megacolon, Cleft hard palate, Broad eyebrow, Highly arched eyebrow, P...	ORPHA:261552
Hydrolethalus Syndrome 1	Microphthalmia, Cleft palate	OMIM:236680
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos	ORPHA:93325
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microphthalmia, Hypoplasia of the iris	OMIM:175780
Craniofacial Microsomia 1	Microphthalmia, Cleft palate, Anophthalmia	OMIM:164210

Histopathology

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

There is no histopathology data for Ldaf1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ldaf1.

No publications found that use IMPC mice or data for Ldaf1.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Ldaf1^{em1(IMPC)Kmpc}	Exon Deletion	Mice
Ldaf1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ldaf1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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