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Gene: Dlgap1 MGI:1346065

Gene Summary

Name:

DLG associated protein 1

Synonyms:

Sapap1, Gkap, D17Bwg0511e, SAPAP1, DAP-1 beta, GKAP/SAPAP, 4933422O14Rik

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	Dlgap1^em1(IMPC)Tcp	HOM	Early adult	9.74×10^-07
small adrenal glands	Dlgap1^em1(IMPC)Tcp	HOM	Early adult	0.00
decreased exploration in new environment	Dlgap1^em1(IMPC)Tcp	HOM	Early adult	1.83×10^-08
microphthalmia	Dlgap1^em1(IMPC)Tcp	HOM	Early adult	0.00
abnormal skin morphology	Dlgap1^em1(IMPC)Tcp	HOM	Early adult	0.00
abnormal eye morphology	Dlgap1^em1(IMPC)Tcp	HOM	Early 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 Ophthalmoscopy

97 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

Images Slit Lamp

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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Human diseases caused by Dlgap1 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 Dlgap1 (0 diseases)
Human diseases predicted to be associated with Dlgap1 (480 diseases)

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

The table below shows human diseases predicted to be associated to Dlgap1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Major Affective Disorder 1	Mania, Depression	OMIM:125480
Major Depressive Disorder	Depression	OMIM:608516
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Short attention span, Hyperactivity	DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3	Short attention span, Hyperactivity	OMIM:608443
Autism, Susceptibility To, 20	Impaired social interactions	OMIM:618830
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Schizophrenia 15	Hyperactivity	OMIM:613950
Nanophthalmos 2	Microphthalmia	OMIM:609549
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Gombo Syndrome	Microphthalmia, Delayed puberty	OMIM:233270
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Hereditary Geniospasm	Abnormal social behavior	ORPHA:53372
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Abnormal social behavior	ORPHA:436151
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Hyperlysinemia, Type I	Short attention span, Hyperactivity, Cognitive impairment	OMIM:238700
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Mental deterioration, Depression, ...	OMIM:219080
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Hartnup Disorder	Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder	OMIM:234500
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability	OMIM:605899
Microphthalmia, Isolated 4	Microphthalmia, Absent testis	OMIM:613094
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Congenital adrenal hyperplasia, Increased circulating ACTH level	OMIM:613571
Intellectual Developmental Disorder, Autosomal Dominant 67	Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder, Hypothyroidism, Mo...	OMIM:619927
Lipoid Congenital Adrenal Hyperplasia	Congenital adrenal hyperplasia, Adrenogenital syndrome	OMIM:201710
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Nanophthalmos	Microphthalmia	ORPHA:35612
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Hyperactivity	OMIM:274270
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level	OMIM:103900
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster...	ORPHA:403
Nanophthalmos 4	Microphthalmia	OMIM:615972
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Pigmented Nodular Adrenocortical Disease, Primary, 4	Diabetes mellitus, Adrenal hyperplasia, Depression, Increased circulating cortisol level, Primary...	OMIM:615830
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, Hypogonadism	ORPHA:2528
Phenylketonuria	Hyperactivity, Aggressive behavior, Depression, Irritability, Attention deficit hyperactivity dis...	OMIM:261600
Trichotillomania	Hair-pulling	OMIM:613229
Landau-Kleffner Syndrome	Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Depression, Memory impairm...	ORPHA:98818
Mmep Syndrome	Microphthalmia, Cryptorchidism	ORPHA:3434
Biemond Syndrome Type 2	Hypogonadism, Microphthalmia, Hypogonadotropic hypogonadism, Delayed puberty	ORPHA:141333
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent...	OMIM:275000
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
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc...	ORPHA:3453
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:404
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Depression, Increased...	OMIM:615954
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Hyperaldosteronism, Familial, Type Iii	Polydipsia, Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level	OMIM:613677
Familial Hyperaldosteronism Type Iii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:251274
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome	OMIM:201910
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Macro...	ORPHA:3077
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Diminished ability to concentrate, Recurrent hand flapping, S...	OMIM:615516
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:189427
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia, Cryptorchidism	OMIM:615524
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Cofs Syndrome	Microphthalmia, Hypogonadism	ORPHA:1466
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome	OMIM:202110
X-Linked Adrenoleukodystrophy	Hyperactivity, Aggressive behavior, Increased circulating ACTH level, Dementia, Adrenal insuffici...	ORPHA:43
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of pineal gland	OMIM:614402
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ...	ORPHA:90793
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Short attention span, Hyperactivity, Diabetes mellitus, Hyperthyroidism, Aggressive behavior, Hyp...	ORPHA:449291
Primary Unilateral Adrenal Hyperplasia	Glucocortocoid-insensitive primary hyperaldosteronism, Polydipsia, Adrenal hyperplasia, Decreased...	ORPHA:231580
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Abnormal circulating renin, Hyperaldosteronism, Dexamethasone-suppressible p...	ORPHA:369929
Congenital Toxoplasmosis	Microphthalmia, Cognitive impairment	ORPHA:858
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Myoclonic-Astatic Epilepsy	Microphthalmia, Hyperactivity, Abnormal emotion, Attention deficit hyperactivity disorder	ORPHA:1942
Pierpont Syndrome	Microphthalmia, Cryptorchidism	ORPHA:487825
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia, Cryptorchidism	OMIM:164180
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Hypogonadism, Cryptorchidism	OMIM:601794
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Impulsivity, Aggressive behavior, Lens coloboma, Self-injurious behavior, Microphthalmia, Abnorma...	OMIM:618914
Pierpont Syndrome	Microphthalmia, Cryptorchidism	OMIM:602342
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:152950
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Warburg Micro Syndrome 1	Microphthalmia, Cryptorchidism	OMIM:600118
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Hypogonadism, Cryptorchidism	ORPHA:363741
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:1135
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:48431
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Dysphagia	OMIM:308350
11Q22.2Q22.3 Microdeletion Syndrome	Abnormal social behavior	ORPHA:444002
17Q12 Microduplication Syndrome	Microphthalmia, Self-injurious behavior	ORPHA:261272
Microphthalmia, Syndromic 8	Microphthalmia, Cryptorchidism	OMIM:601349
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos, Tongue thrusting	ORPHA:77299
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen...	ORPHA:90791
Hsd10 Disease	Abnormal social behavior	ORPHA:391417
Rere-Related Neurodevelopmental Syndrome	Cryptorchidism, Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia, Mic...	ORPHA:494344
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Cryptorchidism	OMIM:613730
Norrie Disease	Aggressive behavior, Hypoplasia of the iris, Buphthalmos, Dementia, Microphthalmia	OMIM:310600
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia, Attention deficit hyperactivity disorder	OMIM:617914
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Progressive neurologic deterioration, Cryptorchidism	OMIM:214150
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Restlessness, Hyperactivity, Aggressive behavior, Cryptorchidism, Bilateral microphthalmos, Agita...	ORPHA:369891
Meckel Syndrome, Type 8	Microphthalmia, Anophthalmia	OMIM:613885
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Type I diabetes mellitus	ORPHA:290
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ...	ORPHA:85327
Lissencephaly 8	Microphthalmia	OMIM:617255
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level	ORPHA:96181
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Insulin-Like Growth Factor I Deficiency	Hyperactivity, Short attention span, Decreased serum insulin-like growth factor 1, Elevated circu...	OMIM:608747
Trisomy 13	Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the iris, Cognitive impairment, Microphthalmia	ORPHA:3378
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Supernumerary nipple, Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive b...	OMIM:620098
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia, Attention deficit hyperactivity disorder, Compulsive behaviors, Cryptorchidism	ORPHA:404440
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Familial Gestational Hyperthyroidism	Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin...	ORPHA:99819
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Isosexual precocious puberty	ORPHA:2788
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia	ORPHA:93267
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent...	OMIM:201810
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Decreased circulating cortisol level, Adrenal hyperplasia, Increased circulating ACTH level, Abno...	ORPHA:90790
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia	OMIM:610125
Female Restricted Epilepsy With Intellectual Disability	Abnormal social behavior	ORPHA:101039
Childhood Absence Epilepsy	Abnormal social behavior, Depression	ORPHA:64280
Bresek Syndrome	Decreased testicular size, Microphthalmia, Optic nerve hypoplasia, Cryptorchidism	ORPHA:85284
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ...	OMIM:202010
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Moebius Syndrome	Microphthalmia, Hypogonadotropic hypogonadism, Decreased testicular size, Dysphagia	OMIM:157900
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin...	ORPHA:424
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Solitary Median Maxillary Central Incisor	Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim...	OMIM:147250
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph...	ORPHA:95699
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Type II diabetes mellitus	ORPHA:3191
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Dysphagia	OMIM:612379
Temtamy Syndrome	Microphthalmia, Self-mutilation	OMIM:218340
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Neurooculocardiogenitourinary Syndrome	Bilateral cryptorchidism, Microphthalmia	OMIM:618652
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Dysphagia, Cryptorchidism	OMIM:618494
Microphthalmia With Brain And Digit Anomalies	Abnormality of the hypothalamus-pituitary axis, Microphthalmia, Anophthalmia, Cryptorchidism	ORPHA:139471
Frontonasal Dysplasia 1	Microphthalmia	OMIM:136760
Joubert Syndrome 37	Microphthalmia, Decreased testicular size, Cryptorchidism	OMIM:619185
3P25.3 Microdeletion Syndrome	Microphthalmia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:435638
Meckel Syndrome, Type 5	Microphthalmia, Bile duct proliferation	OMIM:611561
Hyperthyroidism, Nonautoimmune	Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Increased circulatin...	OMIM:609152
Matthew-Wood Syndrome	Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Microphthalmia, Annular pancreas	ORPHA:2470
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Monosomy 18P	Microphthalmia, Hypothyroidism	ORPHA:1598
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
3Q29 Microdeletion Syndrome	Microphthalmia, Depression, Attention deficit hyperactivity disorder, Aggressive behavior	ORPHA:65286
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Fanconi Anemia, Complementation Group S	Microphthalmia, Ovarian carcinoma, Ovarian neoplasm	OMIM:617883
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia, Hypogonadism, Cryptorchidism	ORPHA:228390
Hydrolethalus	Microphthalmia, Anophthalmia, Cryptorchidism	ORPHA:2189
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ...	OMIM:241410
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Fanconi Anemia, Complementation Group I	Microphthalmia, Hypothyroidism, Optic nerve hypoplasia, Decreased response to growth hormone stim...	OMIM:609053
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Fetal Alcohol Syndrome	Microphthalmia, Cognitive impairment	ORPHA:1915
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia	OMIM:610756
Baraitser-Winter Syndrome 1	Microphthalmia, Cryptorchidism	OMIM:243310
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Congenital Fibrinogen Deficiency	Microphthalmia, Hemorrhagic ovarian cyst, Decreased testicular size	ORPHA:335
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia, Cryptorchidism	ORPHA:77298
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Optic nerve hypoplasia	ORPHA:370959
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Meckel Syndrome, Type 2	Microphthalmia, Bile duct proliferation	OMIM:603194
Warburg Micro Syndrome 4	Microphthalmia, Decreased testicular size, Cryptorchidism	OMIM:615663
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Adrenal gland agenesis	OMIM:611812
Sandestig-Stefanova Syndrome	Microphthalmia	OMIM:618804
Joubert Syndrome 14	Microphthalmia, Irritability	OMIM:614424
Chromosome 13Q33-Q34 Deletion Syndrome	Microphthalmia, Hyperactivity, Aggressive behavior, Cryptorchidism	OMIM:619148
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
1Q21.1 Microdeletion Syndrome	Microphthalmia, Depression, Attention deficit hyperactivity disorder, Cryptorchidism	ORPHA:250989
Trichothiodystrophy 3, Photosensitive	Bilateral cryptorchidism, Microphthalmia	OMIM:616395
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia, Unilateral cryptorchidism	OMIM:206920
Rodrigues Blindness	Microphthalmia	OMIM:268320
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
48,Xxxy Syndrome	Irritability, Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior	ORPHA:96263
Meckel Syndrome, Type 4	Microphthalmia, Bile duct proliferation	OMIM:611134
Lamb-Shaffer Syndrome	Abnormal social behavior	ORPHA:530983
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Tetraamelia Syndrome 1	Microphthalmia, Adrenal gland agenesis	OMIM:273395
Atelis Syndrome 2	Microphthalmia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia,...	OMIM:620185
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Warburg Micro Syndrome 3	Microphthalmia, Decreased testicular size	OMIM:614222
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Supernumerary nipple, Cryptorchidism	OMIM:612530
Marden-Walker Syndrome	Microphthalmia, Cryptorchidism	OMIM:248700
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia, Cryptorchidism	ORPHA:899
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Metachromatic Leukodystrophy, Late Infantile Form	Emotional lability, Abnormal social behavior	ORPHA:309256
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Phace Association	Microphthalmia, Optic nerve hypoplasia, Lingual thyroid, Congenital hypothyroidism	OMIM:606519
Microphthalmia, Lenz Type	Microphthalmia, Self-injurious behavior, Cryptorchidism	ORPHA:568
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos	ORPHA:2399
Micro Syndrome	Microphthalmia, Delayed puberty, Cryptorchidism	ORPHA:2510
Metachromatic Leukodystrophy, Juvenile Form	Emotional lability, Abnormal social behavior	ORPHA:309263
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Gracile Bone Dysplasia	Aniridia, Microphthalmia	OMIM:602361
Xeroderma Pigmentosum, Complementation Group D	Mental deterioration, Microphthalmia	OMIM:278730
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Cognitive impairment, Microphthalmia, Supernumerary nipple	ORPHA:1236
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Refsum Disease	Microphthalmia	ORPHA:773
Ritscher-Schinzel Syndrome 3	Microphthalmia, Cryptorchidism	OMIM:619135
Frontorhiny	Microphthalmia, Hypopituitarism, Diabetes insipidus	ORPHA:391474
Pseudotrisomy 13 Syndrome	Microphthalmia, Adrenal hypoplasia, Cryptorchidism	OMIM:264480
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia, Cryptorchidism	ORPHA:3301
Hydrolethalus Syndrome 1	Microphthalmia, Adrenal gland dysgenesis	OMIM:236680
Dubowitz Syndrome	Short attention span, Hyperactivity, Cryptorchidism, Hypoplasia of the iris, Microphthalmia	OMIM:223370
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Martsolf Syndrome 1	Microphthalmia, Hypogonadotropic hypogonadism, Cryptorchidism	OMIM:212720
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Cryptorchidism	ORPHA:2505
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia	OMIM:120200
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Cryptorchidism	ORPHA:2728
Incontinentia Pigmenti	Cognitive impairment, Microphthalmia, Attention deficit hyperactivity disorder, Supernumerary nipple	ORPHA:464
Metachromatic Leukodystrophy, Adult Form	Emotional lability, Abnormal social behavior, Depression	ORPHA:309271
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia, Cryptorchidism	OMIM:613001
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Warburg Micro Syndrome 2	Microphthalmia, Cryptorchidism	OMIM:614225
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Anterio...	OMIM:206900
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Thyroid C cell hyperplasia	OMIM:300952
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	OMIM:616449
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia, Hypoplastic nipples	OMIM:156610
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Cholelithiasis, Aggressive behavior	ORPHA:464738
Fanconi Anemia, Complementation Group D2	Hypergonadotropic hypogonadism, Cryptorchidism, Attention deficit hyperactivity disorder, Microph...	OMIM:227646
Kapur-Toriello Syndrome	Microphthalmia, Cryptorchidism	OMIM:244300
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Cryptorchidism, Abnormal repetitive mannerisms, Depression, Buphthalmos, Abn...	ORPHA:534
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Microphthalmia, Anophthalmia	OMIM:615877
Holoprosencephaly-Postaxial Polydactyly Syndrome	Adrenal hypoplasia, Cryptorchidism, Microphthalmia, Abnormality of the hypothalamus-pituitary axi...	ORPHA:2166
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Hypogonadism	OMIM:601675
Monosomy 9Q22.3	Microphthalmia, Hyperactivity, Ovarian fibroma	ORPHA:77301
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Holoprosencephaly	Anophthalmia, Diabetes mellitus, Cryptorchidism, Panhypopituitarism, Cognitive impairment, Microp...	ORPHA:2162
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Hypogonadism	OMIM:610651
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Hallermann-Streiff Syndrome	Microphthalmia, Hyperactivity, Cryptorchidism	OMIM:234100
Cohen Syndrome	Microphthalmia, Delayed puberty, Cryptorchidism	ORPHA:193
Fanconi Anemia, Complementation Group F	Microphthalmia, Decreased response to growth hormone stimulation test, Cryptorchidism	OMIM:603467
Adams-Oliver Syndrome	Microphthalmia	ORPHA:974
Frontonasal Dysplasia 2	Bilateral cryptorchidism, Microphthalmia	OMIM:613451
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia, Increased circulating gonadotropin level	OMIM:110100
Holoprosencephaly 9	Anophthalmia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response to growth...	OMIM:610829
8Q21.11 Microdeletion Syndrome	Microphthalmia, Cryptorchidism	ORPHA:284160
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Mend Syndrome	Microphthalmia, Hyperactivity, Aggressive behavior, Cryptorchidism	ORPHA:401973
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Incontinentia Pigmenti	Hypoplasia of the fovea, Supernumerary nipple, Breast aplasia, Hypoplastic nipples, Microphthalmi...	OMIM:308300
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Fanconi Anemia, Complementation Group L	Microphthalmia, Attention deficit hyperactivity disorder	OMIM:614083
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Cryptorchidism	OMIM:614230
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Focal Dermal Hypoplasia	Hypoplasia of the iris, Microphthalmia, Cognitive impairment	ORPHA:2092
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia, Hypogonadism, Cryptorchidism	ORPHA:2250
Trisomy 18	Microphthalmia, Cognitive impairment, Cryptorchidism	ORPHA:3380
Mosaic Trisomy 9	Microphthalmia, Cryptorchidism	ORPHA:99776
Early-Onset Autosomal Dominant Alzheimer Disease	Abnormal social behavior	ORPHA:1020
Fanconi Anemia, Complementation Group E	Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism	OMIM:600901
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia, Annular pancreas, Attention deficit hyperactivity disorder, Cryptorchidism	OMIM:616975
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia	OMIM:302960
2Q31.1 Microdeletion Syndrome	Microphthalmia, Abnormality of the hypothalamus-pituitary axis, Cryptorchidism	ORPHA:251014
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia	OMIM:613150
Dihydropyrimidine Dehydrogenase Deficiency	Irritability, Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior	ORPHA:1675
Fanconi Anemia, Complementation Group A	Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism	OMIM:227650
Fryns Syndrome	Microphthalmia, Cryptorchidism	ORPHA:2059
Vacterl With Hydrocephalus	Microphthalmia, Anophthalmia, Cryptorchidism	ORPHA:3412
Premature Aging Syndrome, Penttinen Type	Microphthalmia, Elevated circulating thyroid-stimulating hormone concentration	OMIM:601812
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Ohdo Syndrome, X-Linked	Microphthalmia, Cryptorchidism	OMIM:300895
Mosaic Trisomy 1	Microphthalmia	ORPHA:1692
Momo Syndrome	Abnormality of the thyroid gland, Bilateral microphthalmos	ORPHA:2563
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Buphthalmos, Microphthalmia, Optic nerve hypoplasia, Cryptorchidism	OMIM:236670
Fg Syndrome Type 1	Abnormal social behavior	ORPHA:93932
Charge Syndrome	Anophthalmia, Hypogonadotropic hypogonadism, Cryptorchidism, Abnormality of the adrenal glands, A...	ORPHA:138
Norrie Disease	Aplasia/Hypoplasia of the lens, Diabetes mellitus, Cryptorchidism, Hypoplasia of the iris, Self-i...	ORPHA:649
Duane-Radial Ray Syndrome	Microphthalmia, Optic disc hypoplasia	OMIM:607323
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia	OMIM:253800
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Jacobsen Syndrome	Microphthalmia, Annular pancreas, Macular hypoplasia, Cryptorchidism	OMIM:147791
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Hyperthyroidism, Cholelithiasis, Cryptorchidism, Depression, Hypoplasia of th...	ORPHA:567
Treacher-Collins Syndrome	Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia of the thymus, Microphthalmia, Thyr...	ORPHA:861
Joubert Syndrome 2	Microphthalmia	OMIM:608091
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Microphthalmia	OMIM:251300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Optic nerve hypoplasia	OMIM:614643
Fanconi Anemia, Complementation Group C	Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism	OMIM:227645
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Macroorchidism, Unilateral microphthalmos	OMIM:618874
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Microphthalmia	OMIM:127000
Doors Syndrome	Adrenal hyperplasia, Congenital hypothyroidism	ORPHA:79500
Phace Syndrome	Optic nerve hypoplasia, Lens coloboma, Ectopic thyroid, Microphthalmia, Hypothyroidism	ORPHA:42775
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Stromme Syndrome	Microphthalmia, Optic nerve hypoplasia	OMIM:243605
Oculoauricular Syndrome	Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia	OMIM:612109
Meckel Syndrome 14	Microphthalmia	OMIM:619879
Rothmund-Thomson Syndrome, Type 2	Microphthalmia, Annular pancreas, Hypogonadism, Cryptorchidism	OMIM:268400
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia, Cryptorchidism	OMIM:616300
Meckel Syndrome	Anophthalmia, Pancreatic fibrosis, Pancreatic cysts, Cryptorchidism, Aplasia/Hypoplasia of the ir...	ORPHA:564
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis, Hypoplastic ni...	OMIM:620186
Pallister-Hall Syndrome	Thyroid hypoplasia, Adrenal hypoplasia, Precocious puberty, Cryptorchidism, Adrenocorticotropic h...	ORPHA:672
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Abnormal repetitive mannerisms, Optic nerve hypoplasia	ORPHA:508498
Linear Nevus Sebaceus Syndrome	Microphthalmia, Adenoma sebaceum	ORPHA:2612
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro...	OMIM:609049
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Fraser Syndrome 2	Microphthalmia, Hypoplasia of the thymus	OMIM:617666
Steinfeld Syndrome	Microphthalmia, Absent gallbladder	OMIM:184705
Basal Cell Nevus Syndrome 1	Microphthalmia, Ovarian fibroma, Ovarian carcinoma	OMIM:109400
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos	ORPHA:2839
Cousin Syndrome	Microphthalmia	OMIM:260660
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Hallermann-Streiff Syndrome	Microphthalmia, Hypothyroidism, Cryptorchidism	ORPHA:2108
Cockayne Syndrome Type 3	Cognitive impairment, Microphthalmia, Progressive neurologic deterioration	ORPHA:90324
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Intellectual Developmental Disorder, Autosomal Dominant 38	Hair-pulling	OMIM:616393
Cockayne Syndrome	Diabetes mellitus, Cryptorchidism, Absence of pubertal development, Cognitive impairment, Delayed...	ORPHA:191
Histiocytoid Cardiomyopathy	Microphthalmia, Congenital aphakia, Polycystic ovaries	ORPHA:137675
Histidinemia	Hyperactivity	ORPHA:2157
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic nerve hypoplasia, Cryptorchidism, Bilateral microphthalmos, Self-injurious behavior, Abnorm...	ORPHA:468631
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Aicardi Syndrome	Precocious puberty, Microphthalmia, Delayed puberty	ORPHA:50
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Hypothyroidism	ORPHA:1052
Microphthalmia, Syndromic 9	Cryptorchidism, Anophthalmia, Bilateral microphthalmos	OMIM:601186
Cat Eye Syndrome	Microphthalmia	OMIM:115470
Prader-Willi Syndrome Due To Translocation	Abnormal social behavior, Impaired social interactions	ORPHA:177907
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Hypothyroidism, Cryptorchidism	OMIM:620005
Fanconi Anemia	Cryptorchidism, Aplasia/Hypoplasia of the iris, Hypogonadism, Microphthalmia, Abnormality of the ...	ORPHA:84
Mycophenolate Mofetil Embryopathy	Microphthalmia	ORPHA:268249
Charge Syndrome	Hypoparathyroidism, Anophthalmia, Hypogonadotropic hypogonadism, Decreased response to growth hor...	OMIM:214800
Acro-Renal-Ocular Syndrome	Microphthalmia, Optic disc hypoplasia	ORPHA:959
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia, Absent gallbladder	OMIM:617925
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Oculo-Palato-Cerebral Syndrome	Microphthalmia	ORPHA:2714
Meckel Syndrome, Type 1	Microphthalmia, Bile duct proliferation, Adrenal hypoplasia, Cryptorchidism	OMIM:249000
Bartsocas-Papas Syndrome 1	Bilateral cryptorchidism, Microphthalmia	OMIM:263650
Holoprosencephaly 7	Microphthalmia, Bilateral microphthalmos, Panhypopituitarism	OMIM:610828
Cockayne Syndrome B	Hypoplasia of the iris, Microphthalmia, Cryptorchidism	OMIM:133540
Microphthalmia, Syndromic 2	Anophthalmia, Cryptorchidism, Phthisis bulbi, Adrenal insufficiency, Microphthalmia, Hypothyroidism	OMIM:300166
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia, Cryptorchidism	ORPHA:1106
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Hypogonadotropic hypogonadism, Cryptorchidism	OMIM:603457
Holoprosencephaly 1	Microphthalmia, Diabetes insipidus, Adrenal hypoplasia	OMIM:236100
Trichothiodystrophy	Cryptorchidism, Bilateral microphthalmos	ORPHA:33364
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Aicardi Syndrome	Precocious puberty, Microphthalmia	OMIM:304050
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia	ORPHA:2526
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Anophthalmia	ORPHA:2538
Fryns Syndrome	Microphthalmia, Ectopic pancreatic tissue, Cryptorchidism	OMIM:229850
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia, Cryptorchidism	OMIM:609945
Witteveen-Kolk Syndrome	Hyperactivity, Unilateral cryptorchidism, Decreased response to growth hormone stimulation test, ...	OMIM:613406
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hair-pulling	ORPHA:447997
Monosomy 9P	Microphthalmia, Cryptorchidism	ORPHA:261112
Autosomal Dominant Kenny-Caffey Syndrome	Congenital hypoparathyroidism, Bilateral microphthalmos, Decreased testicular size, Abnormal circ...	ORPHA:93325
Degcags Syndrome	Microphthalmia, Choking episodes, Oral-pharyngeal dysphagia, Cryptorchidism	OMIM:619488
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Absent gallbladder	ORPHA:3186
Microphthalmia, Syndromic 6	Anophthalmia, Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Microphthalmia, Anterior h...	OMIM:607932
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Hyperactivity, Optic nerve hypoplasia, Bilateral microphthalmos, Tic...	ORPHA:508488
Neuroocular Syndrome	Hypoplasia of the fovea, Microphthalmia, Lens coloboma, Attention deficit hyperactivity disorder	OMIM:619539
Roberts Syndrome	Microphthalmia, Cryptorchidism	ORPHA:3103
Myhre Syndrome	Microphthalmia, Cryptorchidism	OMIM:139210
Lowe Oculocerebrorenal Syndrome	Microphthalmia, Abnormal repetitive mannerisms, Aggressive behavior, Cryptorchidism	OMIM:309000
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia	OMIM:309801
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia, Anophthalmia, Abnormal testis morphology	ORPHA:2556
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia	OMIM:601552
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Supernumerary nipple, Cryptorchidism	OMIM:613884
Fontaine Progeroid Syndrome	Microphthalmia, Absent nipple, Hypoplastic nipples, Cryptorchidism	OMIM:612289
Koolen-De Vries Syndrome Due To A Point Mutation	Abnormal social behavior, Inappropriate laughter, Overfriendliness	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Abnormal social behavior, Inappropriate laughter, Overfriendliness	ORPHA:363958
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia, Cryptorchidism	OMIM:616734
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi	OMIM:259770
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:612474
Holoprosencephaly 2	Anterior pituitary agenesis, Microphthalmia, Diabetes insipidus, Adrenal hypoplasia	OMIM:157170
Focal Dermal Hypoplasia	Anophthalmia, Supernumerary nipple, Cryptorchidism, Hypoplastic nipples, Aniridia, Microphthalmia	OMIM:305600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Choreoacanthocytosis	Hair-pulling, Socially inappropriate behavior	ORPHA:2388
Niemann-Pick Disease Type C	Abnormal social behavior, Low frustration tolerance, Depression	ORPHA:646
Yunis-Varon Syndrome	Microphthalmia, Bilateral microphthalmos, Cryptorchidism	ORPHA:3472
Proboscis Lateralis	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	ORPHA:141099
Tuberous Sclerosis Complex	Abnormal social behavior, Depression	ORPHA:805
Monosomy 22Q13.3	Hair-pulling	ORPHA:48652
Adams-Oliver Syndrome 1	Microphthalmia, Supernumerary nipple	OMIM:100300
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia	OMIM:608670
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Renpenning Syndrome 1	Microphthalmia, Decreased testicular size	OMIM:309500
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
Fraser Syndrome	Microphthalmia, Anophthalmia, Cryptorchidism	ORPHA:2052
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia	ORPHA:306542
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hair-pulling	OMIM:620330
Fraser Syndrome 1	Cryptorchidism, Anophthalmia, Abnormal thymus morphology, Bilateral microphthalmos	OMIM:219000
Neu-Laxova Syndrome 1	Microphthalmia, Cryptorchidism	OMIM:256520
Treacher Collins Syndrome 1	Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morphology	OMIM:154500
Branchiooculofacial Syndrome	Anophthalmia, Supernumerary nipple, Cryptorchidism, Microphthalmia, Ectopic thymus tissue	OMIM:113620
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Abnormal social behavior	ORPHA:314647
Williams Syndrome	Overfriendliness, Abnormal social behavior, Depression	ORPHA:904
Mowat-Wilson Syndrome	Microphthalmia, Supernumerary nipple, Cryptorchidism	OMIM:235730
Townes-Brocks Syndrome	Microphthalmia, Hypothyroidism, Delayed puberty, Cryptorchidism	ORPHA:857
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Cryptorchidism, Dysphagia, Hydrocele testis, Bruxism, Microphthalmia, Abnormal repetitive mannerisms	ORPHA:261537
Mowat-Wilson Syndrome	Cryptorchidism, Dysphagia, Hydrocele testis, Bruxism, Microphthalmia, Abnormal repetitive mannerisms	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Cryptorchidism, Dysphagia, Hydrocele testis, Bruxism, Microphthalmia, Abnormal repetitive mannerisms	ORPHA:261552
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia	OMIM:175780
Microphthalmia, Syndromic 1	Anophthalmia, Aggressive behavior, Cryptorchidism, Microphthalmia, Self-mutilation	OMIM:309800
Roberts-Sc Phocomelia Syndrome	Microphthalmia, Cryptorchidism	OMIM:268300
Craniofacial Microsomia 1	Microphthalmia, 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 Dlgap1

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 Dlgap1.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Dissecting indirect genetic effects from peers in laboratory mice.	Genome biology (July 2021)	Dlgap1^em1(IMPC)Tcp	PMC8311926

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MGI Allele	Allele Type	Produced
Dlgap1^{tm270970(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Dlgap1^em1(IMPC)Tcp	Exon Deletion	Mice

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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Gene: Dlgap1 MGI:1346065

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

Gross Pathology and Tissue Collection

X-ray

X-ray

X-ray

Eye Morphology

X-ray

Electrocardiogram (ECG)

Human diseases caused by Dlgap1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data