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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	5.85×10^-07
microphthalmia	Ldaf1^{em1(IMPC)Kmpc}	HOM	Late adult	0.00
abnormal eye morphology	Ldaf1^{em1(IMPC)Kmpc}	HOM	Late adult	0.00
abnormal duodenum morphology	Ldaf1^{em1(IMPC)Kmpc}	HOM	Late adult	0.00
abnormal coat/hair pigmentation	Ldaf1^{em1(IMPC)Kmpc}	HOM	Late adult	8.34×10^-08

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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	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	Bilateral cleft palate, Synophrys, Bilateral microphthalmos, Cleft palate, Microphthalmia, Unilat...	OMIM:610828
Iniencephaly	Anal atresia, Duodenal atresia	ORPHA:63259
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia, Abnormality of retinal pigmentation	ORPHA:85167
Prader-Willi Syndrome	Hypopigmentation of hair, Frontal upsweep of hair, Generalized hypopigmentation, Hypopigmentation...	OMIM:176270
Steinfeld Syndrome	Microphthalmia, Bifid uvula, Median cleft lip and palate	OMIM:184705
Whim Syndrome	Abnormal small intestine morphology, Parotitis, Vitiligo	ORPHA:51636
Menkes Disease	Gastrointestinal hemorrhage, Hypopigmentation of hair, Malabsorption, Sparse hair, Woolly hair	ORPHA:565
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia	OMIM:253800
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Basal Cell Nevus Syndrome 1	Microphthalmia, Hamartomatous stomach polyps, Cleft palate	OMIM:109400
Renpenning Syndrome 1	Brittle hair, Cleft palate, High palate, Sparse hair, Microphthalmia, Anal atresia, Sparse latera...	OMIM:309500
Aicardi Syndrome	Hiatus hernia, Cleft palate, Hepatoblastoma, Microphthalmia, Sparse lateral eyebrow	OMIM:304050
Cockayne Syndrome Type 3	Premature graying of hair, Microphthalmia, Dry hair, Gastroesophageal reflux	ORPHA:90324
Oculocerebrorenal Syndrome Of Lowe	Sparse scalp hair, Malabsorption, Narrow palate, Fine hair, Buphthalmos, Gastroesophageal reflux,...	ORPHA:534
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Synophrys, High palate, Cleft palate	OMIM:603457
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Optic nerve hypoplasia	OMIM:614643
Multiple Endocrine Neoplasia Type 1	Duodenal ulcer, Peptic ulcer, Hematemesis, Large cafe-au-lait macules with irregular margins, Mel...	ORPHA:652
Branchiooculofacial Syndrome	Anophthalmia, Supernumerary nipple, Malrotation of colon, Pyloric stenosis, Cleft palate, Low pos...	OMIM:113620
Oculoauricular Syndrome	Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia	OMIM:612109
Metachromatic Leukodystrophy	Abnormal stomach morphology, Abnormal duodenum morphology, Intussusception, Neoplasm of the gallb...	ORPHA:512
Acro-Renal-Ocular Syndrome	Aganglionic megacolon, Microphthalmia, Optic disc hypoplasia	ORPHA:959
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Mend Syndrome	Microphthalmia, High palate, Spotty hypopigmentation, Cleft palate	ORPHA:401973
Papillorenal Syndrome	Microphthalmia	OMIM:120330
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Aganglionic megacolon, Intestinal malrotation, Anorectal anomaly, Hy...	ORPHA:567
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Duodenal ulcer, Gastritis, Colitis, Anoperineal fistula, Crohn's disease	OMIM:619381
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Cleft palate, Bilateral cleft lip and palate, Microphthalmi...	OMIM:610829
Smith-Lemli-Opitz Syndrome	Hypopigmentation of hair, Aganglionic megacolon, Abnormal eyelash morphology, Pyloric stenosis, B...	ORPHA:818
Meckel Syndrome 14	Microphthalmia	OMIM:619879
Myhre Syndrome	Cleft palate, Fine hair, Sparse hair, Microphthalmia, Thick eyebrow	OMIM:139210
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro...	OMIM:609049
Adams-Oliver Syndrome 1	Alopecia, Supernumerary nipple, Cleft palate, Small nail, Microphthalmia	OMIM:100300
Microphthalmia With Limb Anomalies	Abnormal eyebrow morphology, Cleft palate, High palate, Microphthalmia, True anophthalmia	ORPHA:1106
Diets-Jongmans Syndrome	Duodenal atresia	OMIM:618846
Roberts Syndrome	Sparse hair, Microphthalmia, High palate, Cleft palate	ORPHA:3103
Chédiak-Higashi Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl...	ORPHA:167
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Optic nerve hypoplasia, Hypertrichosis	ORPHA:508498
Meckel Syndrome	Anophthalmia, Aplasia/Hypoplasia of the tongue, Cleft palate, Furrowed tongue, Aplasia/Hypoplasia...	ORPHA:564
Fraser Syndrome	Anal stenosis, Anophthalmia, Abnormal hair pattern, Ectopic anus, High palate, Microphthalmia, Bi...	ORPHA:2052
Treacher Collins Syndrome 1	Sparse lower eyelashes, Cleft soft palate, Bilateral microphthalmos, Cleft palate, Abnormal parot...	OMIM:154500
Townes-Brocks Syndrome 1	Anal stenosis, Rectoperineal fistula, Tracheoesophageal fistula, Gastroesophageal reflux, Rectova...	OMIM:107480
Hypoplasminogenemia	Duodenal ulcer	ORPHA:722
Yunis-Varon Syndrome	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	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98754
Prader-Willi Syndrome	Xerostomia, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:739
Frontofacionasal Dysplasia	Microphthalmia, Bifid uvula, Absent inner eyelashes	OMIM:229400
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177904
Histiocytoid Cardiomyopathy	Microphthalmia, Cleft palate, Congenital aphakia	ORPHA:137675
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177901
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia, Synophrys, Low anterior hairline, Cleft palate	OMIM:616734
Heterotaxy, Visceral, 5, Autosomal	Intestinal malrotation, Duodenal atresia	OMIM:270100
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Sparse hair, Microphthalmia	OMIM:620005
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Cockayne Syndrome	Abnormality of retinal pigmentation, Dry hair, Fine hair, Pigmentary retinopathy, Gastroesophagea...	ORPHA:191
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia, High palate, Bifid uvula	OMIM:601552
Proboscis Lateralis	Abnormal eyebrow morphology, Anophthalmia, Abnormal location of the eyebrow, Optic nerve hypoplas...	ORPHA:141099
Meckel Syndrome, Type 1	Intestinal malrotation, Cleft palate, Lobulated tongue, Microphthalmia, Anal atresia	OMIM:249000
Phace Syndrome	Microphthalmia, Lens coloboma, Heterochromia iridis, Optic nerve hypoplasia	ORPHA:42775
Charge Syndrome	Anophthalmia, Highly arched eyebrow, Abnormal soft palate morphology, Tracheoesophageal fistula, ...	ORPHA:138
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia, High palate, Aplasia/Hypoplasia of the nails	OMIM:609945
Monosomy 9Q22.3	Microphthalmia	ORPHA:77301
Tetraamelia Syndrome 1	Microphthalmia, Anal atresia, Cleft palate	OMIM:273395
Microphthalmia, Syndromic 2	Anophthalmia, Phthisis bulbi, Submucous cleft hard palate, Laterally curved eyebrow, Microphthalm...	OMIM:300166
Monosomy 13Q14	Abnormality of the gastrointestinal tract, Microphthalmia	ORPHA:1587
Diarrhea 10, Protein-Losing Enteropathy Type	Hematochezia, Protein-losing enteropathy	OMIM:618183
Microphthalmia, Syndromic 9	Anophthalmia, Bilateral microphthalmos	OMIM:601186
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, High palate, Supernumerary nipple	OMIM:613884
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Frontal balding, Highly arched eyebrow, Synophrys, High palate, Long lower eyelashes, Microphthal...	OMIM:612474
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Cholangiocarcinoma, Esophageal varix, Protein-losing enteropathy, He...	ORPHA:731
Witteveen-Kolk Syndrome	Medial flaring of the eyebrow, Hyperconvex nail, High, narrow palate, Fine hair, High palate, Gas...	OMIM:613406
Cystinosis, Nephropathic	Hypopigmentation of hair, Oral-pharyngeal dysphagia, Retinal pigment epithelial mottling, Pigment...	OMIM:219800
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Intestinal malrotation, Hiatus hernia, Cleft palate, High palate, Abnormal duodenum morphology	OMIM:601776
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi	OMIM:259770
Mowat-Wilson Syndrome	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	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Optic nerve hypoplasia, Highly arched eyebrow, Bilateral microphthal...	ORPHA:508488
Neu-Laxova Syndrome 1	Absent eyelashes, Microphthalmia, Cleft palate	OMIM:256520
Pallister-Hall Syndrome	Cleft palate, Nail dysplasia, Microphthalmia, Microglossia, Bifid uvula, Anal atresia	ORPHA:672
Microphthalmia, Syndromic 6	Anophthalmia, Cleft palate, High palate, Microphthalmia, Microglossia, Bifid uvula	OMIM:607932
Holoprosencephaly 2	Submucous cleft hard palate, Bilateral cleft lip and palate, Microphthalmia, Bifid uvula, Median ...	OMIM:157170
Townes-Brocks Syndrome	Rectoperineal fistula, Anteriorly placed anus, Rectovaginal fistula, Microphthalmia, Anal atresia	ORPHA:857
Holoprosencephaly 1	Microphthalmia, Median cleft lip and palate	OMIM:236100
Liver Disease, Severe Congenital	Chronic gastritis, Dry hair, Protein-losing enteropathy, Nail dystrophy	OMIM:619991
Microphthalmia, Syndromic 1	Anophthalmia, Aganglionic megacolon, High, narrow palate, Rectal prolapse, Pyloric stenosis, High...	OMIM:309800
Mowat-Wilson Syndrome	Aganglionic megacolon, Cleft hard palate, Pyloric stenosis, Gastrointestinal dysmotility, Enteroc...	ORPHA:2152
Roberts-Sc Phocomelia Syndrome	Cleft palate, High palate, Sparse hair, Microphthalmia, Cafe-au-lait spot	OMIM:268300
Hydrolethalus Syndrome 1	Microphthalmia, Cleft palate	OMIM:236680
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos	ORPHA:93325
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aganglionic megacolon, Cleft hard palate, Pyloric stenosis, Cleft palate, Submucous cleft of soft...	ORPHA:261537
Lowe Oculocerebrorenal Syndrome	Microphthalmia	OMIM:309000
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:649
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aganglionic megacolon, Highly arched eyebrow, Cleft hard palate, Pyloric stenosis, Cleft palate, ...	ORPHA:261552
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia	OMIM:175780
Craniofacial Microsomia 1	Microphthalmia, Anophthalmia, Cleft palate	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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