Gene Summary

Name:
homeobox gene expressed in ES cells
Synonyms:
HES-1,  Rpx

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Hesx1em1(IMPC)J HOM   Early adult 0.00
cleft palate Hesx1em1(IMPC)J HOM E18.5 0.00
anophthalmia Hesx1em1(IMPC)J HOM E18.5 0.00
abnormal head shape Hesx1em1(IMPC)J HOM E18.5 0.00
facial cleft Hesx1em1(IMPC)J HOM E18.5 0.00
abnormal facial morphology Hesx1em1(IMPC)J HOM E18.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

Gross Morphology Embryo E18.5

Images

4 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

Electroretinography 3

Fundus file

1 Images

X-ray

XRay Images Forepaw

8 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

MicroCT E18.5

Embryo reconstruction

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

Gross Morphology Placenta E18.5

Images

2 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Electrocardiogram (ECG)

Waveform Image

15 Images

Human diseases caused by Hesx1 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.

The table below shows human diseases predicted to be associated to Hesx1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Holoprosencephaly, Chorioretinal coloboma, Microphthalmia... OMIM:611638
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Microcoria, Anophthalmia, Iris coloboma OMIM:616428
Facial Clefting, Oblique, 1
Microphthalmia, Tessier number 4 facial cleft, Cleft palate, Cleft upper lip OMIM:600251
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Facial cleft, Bilateral cleft lip and palate OMIM:600776
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia, Sclerocornea OMIM:611038
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Coloboma OMIM:251505
Microphthalmia, Isolated 2
Microphthalmia, Opacification of the corneal stroma OMIM:610093
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Frontonasal Dysplasia 3
Microphthalmia, Facial cleft, Brachycephaly, Cleft palate OMIM:613456
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Abnormality of the anterior commissure, Hydrocephalus, Agen... OMIM:617542
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Frontal bossing, Optic nerve hypoplasia, Cleft upper lip, High, narrow palate, Bilateral micropht... OMIM:607597
Cerebrooculonasal Syndrome
Anophthalmia, Brachycephaly, Facial cleft, Widely spaced teeth, High palate, Solitary median maxi... ORPHA:66625
Cataract 11, Multiple Types
Microphthalmia, Cataract, Developmental cataract OMIM:610623
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Microphthalmia, Isolated 4
Microphthalmia, Coloboma OMIM:613094
Anencephaly 2
Anophthalmia, Median cleft lip, Median cleft palate, Cleft maxillary alveolar ridge OMIM:619452
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Decreased response to growth ho... OMIM:147250
Anophthalmia Plus Syndrome
Anophthalmia, Non-midline cleft lip, Facial cleft, Cleft palate, Bilateral cleft lip and palate ORPHA:1104
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Anteverted nares, Absent septum pellucidum, Microcephaly, Prominent nose, Bulbous nose, Simplifie... OMIM:618492
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:604219
Lissencephaly 4
Simplified gyral pattern, Wide nasal bridge, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, ... OMIM:614019
Oculocerebrocutaneous Syndrome
Cleft ala nasi, Anophthalmia, Cryptorchidism, Orbital encephalocele, Hypoplasia of the corpus cal... OMIM:164180
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Gombo Syndrome
Microphthalmia, Delayed puberty OMIM:233270
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Microphthalmia, Corneal opacity ORPHA:2432
3Q13 Microdeletion Syndrome
Anteverted nares, Hypertelorism, Cryptorchidism, Wide nasal bridge, Macrocephaly, Agenesis of cor... ORPHA:1621
Syngnathia
Cleft palate OMIM:119550
Macrocephaly, Acquired, With Impaired Intellectual Development
Narrow nasal bridge, Probst bundles, Unilateral cryptorchidism, Anteverted nares, Macrocephaly, A... OMIM:618286
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Death in infancy, Depressed nasal bridge, Microcephaly, Cryptorchidism, Bulbous nose, Optic atrop... OMIM:618766
Warburg Micro Syndrome 1
Cerebellar vermis hypoplasia, Anteverted nares, Microcephaly, Cryptorchidism, Perisylvian polymic... OMIM:600118
Microcephaly 17, Primary, Autosomal Recessive
Hypertelorism, Bulbous nose, Simplified gyral pattern, Microlissencephaly, Hypoplasia of the brai... OMIM:617090
Microphthalmia, Isolated 8
Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True anophthalmia OMIM:615113
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hy... OMIM:604213
Oculomaxillofacial Dysostosis
Median cleft lip, Abnormality of the dentition, Facial cleft, Cleft palate, Aplasia/Hypoplasia af... ORPHA:1794
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co... OMIM:610031
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Microcephaly, Hypoplasia of the pons, Prominent nose, Partial agenesis of the ... OMIM:616171
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp... OMIM:614039
Microphthalmia, Syndromic 12
Neonatal death, Microphthalmia, Anophthalmia OMIM:615524
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Depressed nasal bridge, Posteriorly rotated ears, Supernumerary nipple, Hypertelorism, Cryptorchi... OMIM:618929
Frontonasal Dysplasia 1
Pericallosal lipoma, Broad nasal tip, Bifid nasal tip, Hypertelorism, Conductive hearing impairme... OMIM:136760
Dihydropyrimidine Dehydrogenase Deficiency
Microcephaly, Optic atrophy, Cerebral atrophy, Coloboma, Microphthalmia, Agenesis of corpus callosum OMIM:274270
Microcephaly 5, Primary, Autosomal Recessive
Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Proptosis, Cer... OMIM:608716
Frontofacionasal Dysplasia
Non-midline cleft lip, Brachycephaly, Cleft palate, Facial cleft, Microphthalmia, Midface retrusion ORPHA:1791
Acrofacial Dysostosis, Weyers Type
Abnormality of the dentition, Conical tooth, Facial cleft, Abnormal oral frenulum morphology, Sol... ORPHA:952
Congenital Primary Aphakia
Microphthalmia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye,... ORPHA:83461
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Simplified gyral pattern, ... ORPHA:300570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Hydrocephalus OMIM:614830
Hydrolethalus
Low-set, posteriorly rotated ears, Anophthalmia, Absent septum pellucidum, Cryptorchidism, Hydroc... ORPHA:2189
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Focal polymicrogyria, Dysgenesis of the basal ganglia, Partial agenesis of the corpus callosum, C... OMIM:615771
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy... OMIM:600638
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Hypertelorism, Wide nasal bridge, Cerebral atrophy, Hypoplasia of the corpus callosum, Macrocepha... ORPHA:166024
Nanophthalmos 4
Microphthalmia OMIM:615972
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Facial cleft, Bilateral cleft lip, Cleft upper lip OMIM:601357
Craniotelencephalic Dysplasia
Low-set, posteriorly rotated ears, Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal en... ORPHA:1528
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Congenital Varicella Syndrome
Microphthalmia, Cataract ORPHA:291
Cerebrooculofacioskeletal Syndrome 3
Microcephaly, Cerebellar hypoplasia, Low-set ears, Microphthalmia, Agenesis of corpus callosum OMIM:616570
Nanophthalmos
Microphthalmia ORPHA:35612
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia, Posterior embryotoxon, Astigmatism OMIM:609218
Biemond Syndrome Type 2
Microphthalmia, Hydrocephalus, Coloboma ORPHA:141333
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cataract, Iris coloboma OMIM:120433
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... OMIM:217300
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... ORPHA:500166
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Simp... OMIM:613153
Developmental And Epileptic Encephalopathy 88
Depressed nasal bridge, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Inferior... OMIM:618959
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Hypertelorism, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Proptosis, Hyp... OMIM:618577
Septooptic Dysplasia
Optic disc hypoplasia, Optic nerve hypoplasia, Decreased response to growth hormone stimulation t... OMIM:182230
Pierre Robin Sequence With Facial And Digital Anomalies
Frontal bossing, Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:311895
Schizencephaly
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy OMIM:269160
Corpus Callosum, Agenesis Of
Macrocephaly, Agenesis of corpus callosum, Microcephaly OMIM:217990
Duplication Of The Pituitary Gland
Encephalocele, Microcephaly, Hypertelorism, Abnormal pituitary gland morphology, Abnormal hypotha... ORPHA:314621
Craniopharyngioma
Enlarged pituitary gland, Papilledema, Cerebral calcification, Hypogonadotropic hypogonadism, Abn... ORPHA:54595
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Pontocerebellar Hypoplasia, Type 15
Death in infancy, Partial agenesis of the corpus callosum, Hydrocephalus, Simplified gyral patter... OMIM:619302
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Microcephaly, Depressed nasal ridge, Low-se... OMIM:613885
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Chorioretinal coloboma, Microphtha... ORPHA:231736
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Thin corpus callosum, Abnormality of the anterior commissure, Pachygyria, Optic nerve hypoplasia ORPHA:572013
Hypertelorism, Microtia, Facial Clefting Syndrome
Narrow mouth, Facial cleft, Cleft palate, Cleft upper lip OMIM:239800
Lissencephaly 3
Cerebellar vermis hypoplasia, Agyria, Microcephaly, Hypoplasia of the brainstem, Lissencephaly, H... OMIM:611603
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Occipital encephalocele, Hydrocephalus, Coloboma ORPHA:324416
Microphthalmia With Brain And Digit Anomalies
Cataract, Anophthalmia, Sclerocornea, Microcornea, Microphthalmia, Agenesis of corpus callosum, I... ORPHA:139471
Walker-Warburg Syndrome
Anophthalmia, Posteriorly rotated ears, Absent septum pellucidum, Abnormal cortical gyration, Mic... ORPHA:899
Linear Skin Defects With Multiple Congenital Anomalies 2
Optic disc pallor, Posteriorly rotated ears, Microcephaly, Hypertelorism, Hypoplasia of the corpu... OMIM:300887
Lissencephaly 9 With Complex Brainstem Malformation
Cerebellar vermis hypoplasia, Depressed nasal bridge, Microcephaly, Hypoplasia of the pons, Hyper... OMIM:618325
Holoprosencephaly
Anophthalmia, Depressed nasal ridge, Hypotelorism, Deeply set eye, Absent nares, Holoprosencephal... ORPHA:2162
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Depressed nasal bridge, Agenesis of corpus callosum, Decreased response to growth hormone stimula... OMIM:615286
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ... OMIM:620317
Sub-Cortical Nodular Heterotopia
Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Abnormal cerebral cortex mo... ORPHA:101029
Holoprosencephaly 7
Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hypotelorism, Hypoplasia of th... OMIM:610828
Trisomy 1Q
Wide nose, Anophthalmia, Depressed nasal bridge, Hypertelorism, Cryptorchidism, Hydrocephalus, Hy... ORPHA:261344
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Unilateral Ocular Duplication
Frontal bossing, Median cleft lip, Midline facial cleft, Cleft palate, Dolichocephaly ORPHA:3374
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary microcephaly ORPHA:171703
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Diffuse cerebral atrophy, Prominent nasal bridge, Microcephaly, Promin... OMIM:214150
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia, Anteverted nares, Prominent nasal bridge, Broad nasal tip, Hypoplasia of the pons, ... ORPHA:411986
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Sclerocornea, Hydrocephalus, Holoprosencephaly, Microphthalmia, Agenesis of corpus ... ORPHA:77298
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Absent septum pellucidum, Frontal encephalocele, Hypotelorism, Lissenceph... OMIM:218670
Microform Holoprosencephaly
Narrow nasal bridge, Anteverted nares, Choanal atresia, Maternal diabetes, Microcephaly, Midnasal... ORPHA:280200
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Microphthalmia, Cataract ORPHA:2528
Supernumerary Nostril
Facial cleft ORPHA:141096
Lissencephaly, X-Linked, 1
Death in infancy, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Agyria OMIM:300067
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Anterior synechiae of the anterior chamber,... OMIM:269400
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Holoprosencephaly 9
Anophthalmia, Depressed nasal bridge, Optic nerve hypoplasia, Abnormal cortical gyration, Microce... OMIM:610829
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hypoplasia of t... ORPHA:370959
Masa Syndrome
Macrocephaly, Hydrocephalus, Agenesis of corpus callosum, Microcephaly OMIM:303350
Greig Cephalopolysyndactyly Syndrome
Hypertelorism, Hydrocephalus, Wide nasal bridge, Macrocephaly, Umbilical hernia, Agenesis of corp... ORPHA:380
Imagawa-Matsumoto Syndrome
Wide nasal ridge, Hypertelorism, Cryptorchidism, Macrocephaly, Umbilical hernia, Polymicrogyria, ... OMIM:618786
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Anteverted nares, Depressed nasal bridge, Hypertelorism, Abnormal cerebral white matter morpholog... OMIM:613443
Fetal Akinesia Syndrome, X-Linked
Stillbirth, Agenesis of corpus callosum OMIM:300073
Autosomal Recessive Spastic Paraplegia Type 69
Agenesis of corpus callosum, Cerebral cortical atrophy, Hearing impairment, Aplasia/Hypoplasia of... ORPHA:401830
X-Linked Neurodegenerative Syndrome, Bertini Type
Death in infancy, Agenesis of corpus callosum ORPHA:85334
Microcephaly 16, Primary, Autosomal Recessive
Cryptorchidism, Agenesis of corpus callosum, Simplified gyral pattern, Primary microcephaly OMIM:616681
Non-Distal Duplication 10Q
Low-set, posteriorly rotated ears, Depressed nasal bridge, Microcephaly, Hypertelorism, Cryptorch... ORPHA:1695
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Agenesis of cerebellar vermis, Anteverted nares, Depressed nasal bridge, Underdeve... ORPHA:228390
Pierpont Syndrome
Posteriorly rotated ears, Wide nasal ridge, Abnormal cortical gyration, Hypertelorism, Uplifted e... ORPHA:487825
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Iris coloboma, Coloboma OMIM:610023
Pierpont Syndrome
Wide nose, Posteriorly rotated ears, Broad nasal tip, Microcephaly, Cryptorchidism, Hypertelorism... OMIM:602342
Usmani-Riazuddin Syndrome, Autosomal Recessive
Posteriorly rotated ears, Agenesis of corpus callosum, Low-set ears, Hypertelorism OMIM:619548
Baraitser-Winter Syndrome 1
Anteverted nares, Microcephaly, Hypertelorism, Cryptorchidism, Sensorineural hearing impairment, ... OMIM:243310
Forsythe-Wakeling Syndrome
Prominent nasal bridge, Microcephaly, Deeply set eye, Low-set ears, Macrotia OMIM:613606
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hydrocephalus, Cataract OMIM:601794
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract OMIM:278780
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Wide nose, Abnormal nasal bone morphology, Choanal atresia, Underdeveloped nasal alae, Bifid nasa... ORPHA:521308
Stromme Syndrome
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Prominent nasal bridge, Microcephaly, Hyper... OMIM:243605
Baraitser-Winter Syndrome 2
Abnormal pinna morphology, Hypertelorism, Coloboma, Secondary microcephaly, Lissencephaly, Microp... OMIM:614583
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... OMIM:604229
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microcephaly, Abnormally large globe, Hydrocephalus, Sensorineural hearing impairment, Coloboma, ... OMIM:615249
Orofaciodigital Syndrome Xv
Cerebellar vermis hypoplasia, Anteverted nares, Hypertelorism, Wide nasal bridge, Low-set ears, A... OMIM:617127
Pituicytoma
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... ORPHA:251623
Combined Oxidative Phosphorylation Deficiency 50
Partial agenesis of the corpus callosum, Adrenal insufficiency, Microcephaly OMIM:619025
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Cerebellar vermis hypoplasia, Anteverted nares, Prominent nasal bridge, Dysplastic corpus callosu... OMIM:616900
Autosomal Recessive Spastic Paraplegia Type 67
Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:401820
Cofs Syndrome
Death in infancy, Cerebral calcification, Microcephaly, Abnormal nasal morphology, Sensorineural ... ORPHA:1466
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Caudate atrophy, Aplasia/Hypoplasia of the cerebellar vermis, Prominent nose, Partial absence of ... ORPHA:137831
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Anteverted nares, Underdeveloped nasal alae, Deeply set eye, Microtia, Macrocephaly, Neonatal death OMIM:612138
Congenital Disorder Of Glycosylation, Type Iiy
Thin corpus callosum, Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly OMIM:620200
Williams-Beuren Region Duplication Syndrome
Cerebellar vermis hypoplasia, Decreased response to growth hormone stimulation test, Broad nasal ... OMIM:609757
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of cor... ORPHA:250972
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Frontal bossing, Lip pit, Brachycephaly, Facial cleft, Hypodontia, Microphthalmia, Abnormal palat... ORPHA:1236
Polymicrogyria Due To Tubb2B Mutation
Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dysgenesis of the basal... ORPHA:300573
Intellectual Developmental Disorder, X-Linked 30
Anteverted nares, Prominent nasal bridge, Microcephaly, Hydrocephalus, Deeply set eye, Short nose... OMIM:300558
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Non-midline cleft lip, Cleft palate ORPHA:1074
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
17Q21.31 Microduplication Syndrome
Short nose, Anteverted nares, Delayed puberty, Microcephaly ORPHA:217340
Ventriculomegaly And Arthrogryposis
Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:619501
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Myasthenic Syndrome, Congenital, 23, Presynaptic
Agenesis of corpus callosum OMIM:618197
Microhydranencephaly
Prominent nasal bridge, Microcephaly, Macrotia, Hypoplasia of the brainstem, Proptosis, Cerebella... OMIM:605013
Pontocerebellar Hypoplasia, Type 11
Microcephaly, Hypoplasia of the pons, Bulbous nose, Coloboma, Cerebellar hypoplasia, Hypoplasia o... OMIM:617695
Isolated Dandy-Walker Malformation
Prominent occiput, Frontal bossing, Cleft palate, Platybasia ORPHA:217
Adams-Oliver Syndrome 2
Depressed nasal bridge, Microcephaly, Hypertelorism, Hydrocephalus, Bulbous nose, Optic atrophy, ... OMIM:614219
Pontocerebellar Hypoplasia, Type 14
Death in infancy, Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brainstem, ... OMIM:619301
Microphthalmia, Syndromic 13
Microcornea, Microphthalmia, Iris coloboma OMIM:300915
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro... ORPHA:2334
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Partial agenesis of the corpus callosum, Deeply set eye, Hypoplasia of the brainstem, Death in ch... OMIM:614643
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Posteriorly rotated ears, Microcephaly, Hydrocephalus, Bulbous nose,... OMIM:615219
Joubert Syndrome 14
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Prominent nasal bridg... OMIM:614424
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia OMIM:610125
Pallister-Hall-Like Syndrome
Occipital encephalocele, Death in infancy, Depressed nasal bridge, Microcephaly, Hydrocephalus, H... OMIM:241800
Alazami Syndrome
Wide nose, Depressed nasal bridge, Microcephaly, Wide nasal bridge, Deeply set eye, Retractile te... OMIM:615071
Lissencephaly Syndrome, Norman-Roberts Type
Wide nose, Cerebral calcification, 4-layered lissencephaly, Hypertelorism, Wide nasal bridge, Mic... ORPHA:89844
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Hypertelorism, Wide nasal bridge, Low-set ears, Microphthalmia, Agenesis of corpus callosum ORPHA:93267
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Macrocephaly, Polymicr... OMIM:600348
Masa Syndrome
Agenesis of corpus callosum ORPHA:2466
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Cerebral white matter atrophy ORPHA:599373
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Microcephaly OMIM:618276
Greig Cephalopolysyndactyly Syndrome
Hypertelorism, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Macrocephaly, Umbilical hernia, ... OMIM:175700
Temtamy Syndrome
Hypertelorism, Lop ear, Thick corpus callosum, Chorioretinal coloboma, Low-set ears, Microphthalm... OMIM:218340
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... ORPHA:226307
Microcephaly 10, Primary, Autosomal Recessive
Choanal atresia, Reduced cerebral white matter volume, Prominent nasal bridge, Simplified gyral p... OMIM:615095
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Optic atrophy, Periventricular leukomalacia, Agenesis of corpus callosum OMIM:618324
Microcephaly 3, Primary, Autosomal Recessive
Mixed hearing impairment, Microcephaly, Prominent nose, Partial agenesis of the corpus callosum, ... OMIM:604804
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Corneal opacity, Microphthalmia, Posterior embryotoxon, Iris coloboma ORPHA:1473
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Anteverted nares, Microcephaly, Abnormality of the endocrine system, Cryptorchidism, Hyperteloris... ORPHA:464288
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Hypotelorism, Coloboma, Deeply set eye, Ant... OMIM:616975
Treacher-Collins Syndrome
Frontal bossing, Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, ... ORPHA:861
Dworschak-Punetha Neurodevelopmental Syndrome
Depressed nasal bridge, Optic disc hypoplasia, Microcephaly, Dysplastic corpus callosum, Cupped e... OMIM:619955
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Hypertelorism, Microcephaly, Short columella, Low-set ears, Agenesis of corpus callosum, Hearing ... OMIM:619989
Acromelic Frontonasal Dysplasia
Encephalocele, Anterior pituitary hypoplasia, Broad nasal tip, Bifid nasal tip, Cryptorchidism, H... ORPHA:1827
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum OMIM:619101
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia involving the nose, Absent nares, Holoprose... ORPHA:990
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Depressed nasal bridge, Megalencephaly, Hypertelorism, Hydrocephalus, Progressive macrocephaly, L... OMIM:602501
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment, Partial agenesis of the corpus callosum, Agenesis of corpus callos... ORPHA:85179
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Bulbous nose, Deeply set eye, Hypogonadism, Decreased testicular size ORPHA:261483
Dystonia 30
Diffuse cerebral atrophy, Globus pallidus hypointensity on susceptibility-weighted imaging, Hypot... OMIM:619291
6Q25 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Hypertelorism, Microcephaly, Sensor... ORPHA:251056
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia, Diabetes insipidus, Anterior pituitary hypoplasia, Adrenal hyp... ORPHA:264200
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Microcephaly, Periventricular cysts, Cerebral atrophy, Abnormal basal ganglia morphology, Hypopla... ORPHA:255182
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Convex nasal ridge, Microcephaly, Cryptorchidism, ... ORPHA:85284
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Congenital Neuronal Ceroid Lipofuscinosis
Microcephaly, Wide nasal bridge, Neuronal loss in the cerebral cortex, Aplasia/Hypoplasia of the ... ORPHA:168486
Lissencephaly Due To Tuba1A Mutation
Cerebellar vermis hypoplasia, Agyria, Optic nerve hypoplasia, Aganglionic megacolon, Microcephaly... ORPHA:171680
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Cerebrooculonasal Syndrome
Encephalocele, Cerebellar vermis hypoplasia, Anteverted nares, Optic nerve hypoplasia, Proboscis,... OMIM:605627
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, ... OMIM:206900
Adenylosuccinate Lyase Deficiency
Hypointensity of cerebral white matter on MRI, Anteverted nares, Microcephaly, Low-set ears, Shor... ORPHA:46
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth ORPHA:2016
Isolated Exencephaly
Depressed nasal bridge, Anterior pituitary hypoplasia, Maternal diabetes, Proptosis, Holoprosence... ORPHA:563612
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Joubert Syndrome With Renal Defect
Encephalocele, Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Anteverted nares,... ORPHA:220497
Corpus Callosum, Partial Agenesis Of, X-Linked
Aganglionic megacolon, Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Cere... OMIM:304100
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Microcephaly, Bulbous nose, Protruding... ORPHA:480907
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Depressed nasal bridge, Anteverted nares, Bulbous nose, Cerebral atrophy, Abnormal cerebral white... OMIM:617268
Cortical Dysplasia, Complex, With Other Brain Malformations 12
Cryptorchidism, Dysgenesis of the basal ganglia, Wide nasal bridge, Lissencephaly, Cerebellar hyp... OMIM:620316
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Microcephaly, Corpus callosum atrophy, Cryptorchidism, Prominent nose, Simplified gyral pattern, ... OMIM:619244
Holoprosencephaly 11
Microcephaly, Hypotelorism, Proptosis, Holoprosencephaly, Agenesis of corpus callosum OMIM:614226
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Prominent nasal bridge, Microcephaly, Cryptorchidism, Increased c... ORPHA:163971
Chromosome 3Q13.31 Deletion Syndrome
Hypertelorism, Alobar holoprosencephaly, Cryptorchidism, Low-set ears, Macrotia, Agenesis of corp... OMIM:615433
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate OMIM:119540
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the cerebellum, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, De... ORPHA:2570
Oculocerebrocutaneous Syndrome
Wide mouth, Facial cleft, Calvarial skull defect, Orofacial cleft ORPHA:1647
Hartsfield Syndrome
Encephalocele, Low-set, posteriorly rotated ears, Depressed nasal bridge, Hypertelorism, Aplasia/... ORPHA:2117
Joubert Syndrome 37
Wide nose, Cerebellar vermis hypoplasia, Anteverted nares, Posteriorly rotated ears, Hyperteloris... OMIM:619185
Pyruvate Dehydrogenase E1-Alpha Deficiency
Anteverted nares, Microcephaly, Flared nostrils, Wide nasal bridge, Cerebral atrophy, Basal gangl... OMIM:312170
Epilepsy, Progressive Myoclonic, 9
Agenesis of corpus callosum, Simplified gyral pattern OMIM:616540
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Hypertelor... ORPHA:163961
Congenital Disorder Of Deglycosylation 2
Cerebellar vermis hypoplasia, Hypertelorism, Partial agenesis of the corpus callosum, Short colum... OMIM:619775
Oculoskeletodental Syndrome
Depressed nasal bridge, Dysplastic corpus callosum, Sensorineural hearing impairment, Wide nasal ... ORPHA:557003
Lissencephaly 6 With Microcephaly
Anteverted nares, Microcephaly, Partial agenesis of the corpus callosum, Bulbous nose, Macrotia, ... OMIM:616212
Vitamin K Antagonist Embryofetopathy
Anteverted nares, Choanal atresia, Depressed nasal bridge, Hypertelorism, Myelomeningocele, Hydro... ORPHA:1914
Donnai-Barrow Syndrome
Depressed nasal bridge, Posteriorly rotated ears, Broad nasal tip, Hypertelorism, Partial agenesi... OMIM:222448
Temtamy Syndrome
Hypertelorism, Aplasia/Hypoplasia of the corpus callosum, Chorioretinal coloboma, Macrocephaly, L... ORPHA:1777
Joubert Syndrome With Ocular Defect
Encephalocele, Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Anteverted nares,... ORPHA:220493
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Depressed nasal bridge, Microcephaly, Partial agenesis of the corpus callosum, Optic atrophy, Lar... OMIM:618346
Pontocerebellar Hypoplasia, Type 6
Cerebellar vermis hypoplasia, Prominent nasal bridge, Microcephaly, Cerebral atrophy, Deeply set ... OMIM:611523
14Q11.2 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Depressed nasal bridge, Hypertelorism, Deeply set eye, Short nose ORPHA:261120
Hogue-Janssen Syndrome 2
Anteverted nares, Microcephaly, Hypertelorism, Hydrocephalus, Hypoplasia of the corpus callosum, ... OMIM:616362
Perlman Syndrome
Anteverted nares, Posteriorly rotated ears, Cryptorchidism, Abnormal pancreas morphology, Hyperin... ORPHA:2849
Acromelic Frontonasal Dysostosis
Encephalocele, Tubulonodular pericallosal lipoma, Remnants of the hyaloid vascular system, Optic ... OMIM:603671
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Hypertelorism, Macrotia, Short nose, Dandy-Walker malformation, Progressi... ORPHA:438178
Chromosome 1Q41-Q42 Deletion Syndrome
Anteverted nares, Depressed nasal bridge, Supernumerary nipple, Microcephaly, Broad nasal tip, Cr... OMIM:612530
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Wide nose, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... ORPHA:280679
O'Donnell-Luria-Rodan Syndrome
Cryptorchidism, Abnormal cerebral white matter morphology, Deeply set eye, Macrocephaly, Abnormal... OMIM:618512
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Hypertelorism, Agenesis of corpus callosum, Macrocephaly ORPHA:459074
Acrofacial Dysostosis, Catania Type
Smooth philtrum, Abnormality of the dentition, Carious teeth, Facial cleft, Tooth agenesis, Abnor... ORPHA:1786
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Abnormal substantia nigra morphology, Hypothalamic atrophy, Lateral vent... ORPHA:2822
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Delayed eruption of teeth, Posteriorly rotated ears, Choanal atresia, Hearing impa... OMIM:619148
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hypogonadotropic hypogonadism, Choanal atresia, Cryptorchidism, Sensorineural hearing impairment,... OMIM:147950
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Anteverted nares, Depressed nasal bridge, Microcephaly, Hypertelorism, Bulbous nose, Lateral vent... OMIM:614105
Trisomy 13
Median cleft lip, Anophthalmia, Abnormality of the dentition, High, narrow palate, Cleft palate, ... ORPHA:3378
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Microphthalmia, ... OMIM:614833
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Deeply set eye, Anteverted nares, Cerebral cortical atrophy, Hypoplasia of the corpus callosum OMIM:618859
Malan Overgrowth Syndrome
Optic disc pallor, Depressed nasal bridge, Optic disc hypoplasia, Deeply set eye, Lateral ventric... ORPHA:420179
Maternal Uniparental Disomy Of Chromosome X
Depressed nasal bridge, Primary gonadal insufficiency, Agenesis of corpus callosum, Microcephaly ORPHA:261519
Mmep Syndrome
Microphthalmia, Cryptorchidism ORPHA:3434
Al-Gazali-Bakalinova Syndrome
Depressed nasal bridge, Hypertelorism, Wide nasal bridge, Hypoplasia of the corpus callosum, Macr... OMIM:607131
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Broad nasal tip, Microcephaly, Hypertelorism, Wide nasal bridge, Large earlobe, Lateral ventricle... OMIM:615716
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Depressed nasal bridge, Supernumerary nipple, Hypertelorism, Cryptorchidism, Hydrocephalus, Agene... ORPHA:1812
Cutis Laxa, Autosomal Recessive, Type Iib
Narrow nasal ridge, Microcephaly, Hypertelorism, Bulbous nose, Hydrocephalus, Hypotelorism, Protr... OMIM:612940
5Q14.3 Microdeletion Syndrome
Agenesis of cerebellar vermis, Anteverted nares, Optic nerve hypoplasia, Deeply set eye, Hypoplas... ORPHA:228384
Glycine Encephalopathy 1
Death in infancy, Agenesis of corpus callosum OMIM:605899
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Microcephaly, Sensorineural hearing impairment, Hypoplasia of the corpus cal... OMIM:618379
Coach Syndrome 2
Cerebellar vermis hypoplasia, Hydrocephalus, Coloboma, Chorioretinal coloboma, Agenesis of corpus... OMIM:619111
Gaba-Transaminase Deficiency
Agenesis of corpus callosum, Cerebellar hypoplasia, Death in childhood OMIM:613163
Intellectual Developmental Disorder, Autosomal Recessive 39
Prominent nose, Anteverted ears, Microcephaly, Deeply set eye, Macrotia OMIM:615541
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Abnormal auditory evoked potentials, Hypertelorism, Hydrocephalus, Sensorineural ... OMIM:109120
Periventricular Nodular Heterotopia 7
Optic disc pallor, Anteverted nares, Hypertelorism, Cryptorchidism, Cortical dysplasia, Sensorine... OMIM:617201
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Wide mouth, Thick lower lip vermilion, Thick upper lip vermilion, Brachycephaly OMIM:309545
Cornelia De Lange Syndrome 5
Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Microcephaly, Broad nasal tip, ... OMIM:300882
16P13.11 Microdeletion Syndrome
Anteverted nares, Depressed nasal bridge, Cyclopia, Microcephaly, Cryptorchidism, Sensorineural h... ORPHA:261236
Holoprosencephaly 2
Aplasia of the nasal bone, Diabetes insipidus, Remnants of the hyaloid vascular system, Adrenal h... OMIM:157170
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Hypertelorism, Decreased nerve conduction velocity, Di... OMIM:218000
Lethal Osteosclerotic Bone Dysplasia
Anteverted nares, Posteriorly rotated ears, Microcephaly, Depressed nasal ridge, Proptosis, Low-s... ORPHA:1832
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Protruding ear, Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly ORPHA:2508
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Spina... OMIM:618736
Lissencephaly 7 With Cerebellar Hypoplasia
Death in infancy, Microcephaly, Lissencephaly, Cerebellar hypoplasia, Neonatal death, Agenesis of... OMIM:616342
Mucolipidosis Iv
Dysplastic corpus callosum, Hypergastrinemia, Cerebral dysmyelination, Microcephaly OMIM:252650
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Anteverted nares, Hypertelorism, Sensorineural hearing impairment, Optic atrophy, Depressed nasal... OMIM:618672
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Decreased circulat... OMIM:241410
Frontonasal Dysplasia 2
Tessier number 13 facial cleft, Craniosynostosis, Conical tooth, Parietal foramina, Brachycephaly... OMIM:613451
1Q21.1 Microdeletion Syndrome
Microcephaly, Cryptorchidism, Hydrocephalus, Bulbous nose, Sensorineural hearing impairment, Wide... ORPHA:250989
Diabetes Insipidus, Neurohypophyseal
Wide nose, Hypertelorism, Decreased circulating osteocalcin level, Short nose, Central diabetes i... OMIM:125700
Intellectual Developmental Disorder, Autosomal Dominant 65
Anteverted nares, Posteriorly rotated ears, Bulbous nose, Wide nasal bridge, Noncommunicating hyd... OMIM:619320
Desanto-Shinawi Syndrome
Depressed nasal bridge, Posteriorly rotated ears, Abnormal pinna morphology, Hypertelorism, Bulbo... OMIM:616708
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Cleft palate, Tooth agenesis, High palate, Microphthalmia, Midface retrusion ORPHA:1135
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Depressed nasal bridge, Microcephaly, Hypertelorism, Lissencephaly, Hypoplasia of the corpus call... OMIM:618142
Foxg1 Syndrome
Optic disc hypoplasia, Hypoplasia of the corpus callosum, Pachygyria, Agenesis of corpus callosum... ORPHA:561854
Encephalopathy Due To Sulfite Oxidase Deficiency
Deeply set eye, Short nose, Microcephaly ORPHA:833
Even-Plus Syndrome
Bifid nasal tip, Dysplastic corpus callosum, Depressed nasal ridge, Microtia, Short nose, Agenesi... OMIM:616854
Lissencephaly, X-Linked, 2
Prominent nasal bridge, Wide nasal bridge, Lissencephaly, Low-set ears, Pachygyria, Agenesis of c... OMIM:300215
Peho-Like Syndrome
Optic atrophy, Lissencephaly, Hypoplasia of the corpus callosum, Short nose, Pachygyria, Polymicr... OMIM:617507
Cerebrooculofacioskeletal Syndrome 2
Prominent nose, Microcephaly, Deeply set eye, Death in childhood, Microphthalmia, Convex nasal ri... OMIM:610756
Craniosynostosis 4
Ectopic posterior pituitary, Depressed nasal bridge, Optic nerve hypoplasia, Hypertelorism, Propt... OMIM:600775
Combined Oxidative Phosphorylation Deficiency 31
Depressed nasal bridge, Anteverted nares, Microcephaly, Bulbous nose, Deeply set eye OMIM:617228
Frontorhiny
Encephalocele, Pericallosal lipoma, Low-set, posteriorly rotated ears, Hypertelorism, Congenital ... ORPHA:391474
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Anteverted nares, Depressed nasal bridge, Hypertelorism, Cryptorchidism, Hydrocephalus, Cerebral ... ORPHA:171839
Chung-Jansen Syndrome
Anteverted nares, Hypertelorism, Cryptorchidism, Deeply set eye, Large earlobe, Short nose, Macrotia OMIM:617991
Mitochondrial Complex I Deficiency, Nuclear Type 16
Caudate atrophy, Optic atrophy, Agenesis of corpus callosum, Adrenal insufficiency OMIM:618238
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Optic nerve hypoplasia, Prominent nasal bridge, Bulbous nose, Simplified ... OMIM:618828
Intellectual Disability-Strabismus Syndrome
Decreased serum insulin-like growth factor 1, Depressed nasal bridge, Decreased response to growt... ORPHA:363528
Mosaic Trisomy 9
Intestinal malrotation, Facial cleft, Cleft palate, Prominent occiput, High palate, Biparietal na... ORPHA:99776
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Facial palsy, Microcephaly, Hydrocephalus, Hypoplasia of the brains... OMIM:613155
2Q24 Microdeletion Syndrome
Microphthalmia, Cataract, Abnormality iris morphology ORPHA:1617
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Diabetes insipidus, Optic nerve hypoplasia, Absent septum pellucidum, Ante... ORPHA:3157
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Deeply set eye, Microcephaly OMIM:300471
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the nose, Septo-optic dysplasia, Cryptorchidism, Hydrocephalus, Opti... ORPHA:3301
Nizon-Isidor Syndrome
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Hypertelorism, Bulbous nose, De... OMIM:618872
Radio-Tartaglia Syndrome
Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Microcephaly, Precocious pubert... OMIM:619312
Chromosome 14Q11-Q22 Deletion Syndrome
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Depressed nasal bridge, Microcephaly, B... OMIM:613457
Microphthalmia, Isolated 5
Microphthalmia, Cataract OMIM:611040
Myopia 27, Autosomal Dominant
Increased axial length of the globe OMIM:618827
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Prominent nasal bridge, Microcephaly, Cryptorchidism, Protruding ear, Deeply set eye, Macrocephal... ORPHA:85279
Bardet-Biedl Syndrome 7
Deeply set eye, Depressed nasal bridge, Hypogonadism, Hypertelorism OMIM:615984
Christianson Syndrome
Death in early adulthood, Microcephaly, Abnormality of the nose, Aplasia/Hypoplasia of the corpus... ORPHA:85278
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:102200
Combined Oxidative Phosphorylation Deficiency 2
Neonatal death, Agenesis of corpus callosum, Low-set ears OMIM:610498
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Uplifted earlobe, Broad nasal tip, Cryptorchidism, Deeply set eye,... ORPHA:3459
Pituitary Stalk Interruption Syndrome
Death in infancy, Septo-optic dysplasia, Ectopic posterior pituitary, Adrenal hypoplasia, Cryptor... ORPHA:95496
Neurooculorenal Syndrome
Decreased circulating cortisol level, Cerebellar vermis hypoplasia, Ectopic posterior pituitary, ... OMIM:620305
Chromosome 6Q11-Q14 Deletion Syndrome
Prominent nasal bridge, Broad nasal tip, Bilateral cryptorchidism, Microcephaly, Hypertelorism, H... OMIM:613544
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Deeply set eye, Short nose, Macrocephaly ORPHA:2429
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth, Death in infancy, Microcephaly, Cerebral atrophy, Deeply set eye, Cere... OMIM:272300
X-Linked Intellectual Disability, Schimke Type
Narrow nasal bridge, Deeply set eye, Secondary microcephaly, Cerebral cortical atrophy, Hearing i... ORPHA:85285
8P23.1 Duplication Syndrome
Wide nose, Hypertelorism, Deeply set eye, Adrenal insufficiency, Hearing impairment ORPHA:251076
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Hydrocephalus, Cataract, Optic nerve hypoplasia OMIM:615181
Warburg Micro Syndrome 4
Decreased testicular size, Decreased motor nerve conduction velocity, Anteverted nares, Prominent... OMIM:615663
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Diabetes insipidus, Absent septum pellucidum, Depressed nasal bridge, Microce... OMIM:618500
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Hypertelorism, Bilateral cryptorchidism, Dysplastic corpus callosum, Bulbous nose, Macrotia, Sens... ORPHA:544488
Chromosome 5P13 Duplication Syndrome
Posteriorly rotated ears, Hypertelorism, Bulbous nose, Wide nasal bridge, Hypotelorism, Proptosis... OMIM:613174
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Hypertelorism, Microcephaly, Abnormal globus pallidus morphology, Hypoplasia of the corpus callos... OMIM:618603
Warburg Micro Syndrome 2
Prominent nasal bridge, Asymmetry of the ears, Microcephaly, Cryptorchidism, Macrotia, Optic atro... OMIM:614225
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Depressed nasal bridge, Choanal atresia, Posteriorly rotated ears, Bulbous nose, Deeply set eye, ... ORPHA:284169
Charge Syndrome
Anophthalmia, Aqueductal stenosis, Hypoplasia of the semicircular canal, Holoprosencephaly, Chori... ORPHA:138
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Cerebellar vermis hypoplasia, Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears,... OMIM:619720
Cat-Eye Syndrome
Microphthalmia, Iris coloboma, Chorioretinal coloboma ORPHA:195
Borjeson-Forssman-Lehmann Syndrome
Microcephaly, Cryptorchidism, Deeply set eye, Delayed puberty, Macrotia OMIM:301900
Pseudotrisomy 13 Syndrome
Encephalocele, Posteriorly rotated ears, Adrenal hypoplasia, Microcephaly, Cryptorchidism, Hydroc... OMIM:264480
Gand Syndrome
Deeply set eye, Hypertelorism, Wide nasal bridge, Broad nasal tip OMIM:615074
Alexander Disease Type I
Hydrocephalus, Progressive macrocephaly, Abnormal thalamic MRI signal intensity, Abnormal cerebra... ORPHA:363717
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Relative macrocephaly, Cerebellar vermis hypoplasia, Depressed nasal bridge, Hypertelorism, Hydro... ORPHA:459061
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Cerebellar vermis hypoplasia, Anteverted nares, Posteriorly rotated ears, Partial agenesis of the... OMIM:616819
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Craniosynostosis 6
Microcephaly, Hypertelorism, Sensorineural hearing impairment, Lateral ventricle dilatation, Spin... OMIM:616602
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test OMIM:615925
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Anteverted nares, Anterior pituitary hypoplasia, Red... OMIM:613038
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Microphthalmia With Limb Anomalies
Frontal bossing, Anophthalmia, Cleft upper lip, Deep philtrum, Cleft palate, High palate, Microph... OMIM:206920
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Cerebellar vermis hypoplasia, Posteriorly rotated ears, Hearing impairment, Cryptorchidism, Bulbo... OMIM:618494
Ritscher-Schinzel Syndrome 4
Hypertelorism, Cryptorchidism, Wide nasal bridge, Hypotelorism, Deeply set eye, Proptosis, Cerebe... OMIM:619435
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypoplasia of the pons, Cortical dysplasia, Simplified gyral pattern, Hypotelorism, Abnormal peri... ORPHA:468631
Thomas Syndrome
Cleft upper lip, Cleft palate, Dolichocephaly ORPHA:3316
Weiss-Kruszka Syndrome
Anteverted nares, Hearing impairment, Cupped ear, Overfolded helix, Protruding ear, Colpocephaly,... OMIM:618619
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Anteverted nares, Persistence of primary teeth, Microcephaly, Sensorineural hearing impairment, W... OMIM:618342
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Death in infancy, Depressed nasal bridge, Anteverted nares, Deeply set eye, Large earlobe, Death ... OMIM:616809
Adducted Thumbs Syndrome
Craniosynostosis, High, narrow palate, Velopharyngeal insufficiency, Cleft palate, High palate OMIM:201550
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Hypertelorism, Partial agenesis of the corpus callosum, Optic atrophy, Microcephaly OMIM:245349
Emanuel Syndrome
Delayed eruption of teeth, Hearing impairment, Microcephaly, Cryptorchidism, Hydrocephalus, Cereb... ORPHA:96170
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Anophthalmia, Sclerocornea, Microcornea, Ectopia pupillae, Microphthalmia OMIM:615877
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Low-set, posteriorly rotated ears, Short nose, Anteverted nares ORPHA:2015
Congenital Disorder Of Glycosylation, Type Iy
Deeply set eye, Macrotia, Hypoplasia of the corpus callosum, Microcephaly OMIM:300934
Chromosome 13Q14 Deletion Syndrome
Absent septum pellucidum, Supernumerary nipple, Anteverted ears, Cryptorchidism, Bulbous nose, Hy... OMIM:613884
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Anteverted nares, Posteriorly rotated ears, Broad nasal tip, Basal ganglia calcification, Broad c... OMIM:617763
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Anteverted nares, Microcephaly, ... ORPHA:466688
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Absent septum pellucidum, Microcephaly, Decreased response to growth horm... OMIM:609053
Glutamine Deficiency, Congenital
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Lateral ventricle dilatation, Hypopl... OMIM:610015
Freeman-Sheldon Syndrome
Underdeveloped nasal alae, Hypertelorism, Cryptorchidism, Depressed nasal ridge, Wide nasal bridg... ORPHA:2053
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Bainbridge-Ropers Syndrome
Deeply set eye, Choanal stenosis, Death in infancy, Anteverted nares, Depressed nasal bridge, Hyp... OMIM:615485
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Death in infancy, Microcephaly, Optic atrophy, Protruding ear, Hypoplasia of the corpus callosum,... ORPHA:1495
Mosaic Variegated Aneuploidy Syndrome 3
Deeply set eye, Convex nasal ridge, Low-set ears, Microcephaly OMIM:617598
Absent Eyebrows And Eyelashes With Mental Retardation
Encephalocele, Short nose, Convex nasal ridge, Microcephaly OMIM:200130
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Deeply set eye, Frontal cortical atrophy, Macrocephaly OMIM:300699
Pyruvate Dehydrogenase E1-Alpha Deficiency
Microcephaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Basal ganglia necrosis, ... ORPHA:79243
Intellectual Developmental Disorder, Autosomal Dominant 52
Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Microcephaly, Bilateral cryptor... OMIM:617796
Intellectual Developmental Disorder, Autosomal Recessive 79
Deeply set eye, Wide nasal bridge, Broad nasal tip OMIM:620393
Marden-Walker Syndrome
Anteverted nares, Microcephaly, Hypertelorism, Cryptorchidism, Hypoplasia of the brainstem, Cereb... OMIM:248700
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Macular coloboma, Underdeveloped nasal alae, Hypertelorism, Sensorineural hear... ORPHA:423479
Lissencephaly 8
Occipital encephalocele, Microcephaly, Optic atrophy, Hypoplasia of the brainstem, Cerebellar hyp... OMIM:617255
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Hypertelorism, Partial agenesis of the corpus callosum, Wide nasal bridge, Proptosis, Microtia, M... OMIM:620250
Central Precocious Puberty In Male
Abnormality of the testis size, Pituitary microadenoma, Hydrocephalus, Hypothalamic hamartoma, Ab... ORPHA:649929
4Q21 Microdeletion Syndrome
Depressed nasal bridge, Hypertelorism, Cerebellar hypoplasia, Low-set ears, Agenesis of corpus ca... ORPHA:238750
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Anteverted nares, Posteriorly rotated ears, Hypertelorism, Bulbous nose, Wide nasal bridge, Hypot... OMIM:613604
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Anteverted nares, Hypertelorism, Bulbous nose, Protruding ear, Hypoplasia of the brainstem, Progr... ORPHA:481152
Vici Syndrome
Death in infancy, Hypertelorism, Hypoplasia of the pons, Sensorineural hearing impairment, Optic ... ORPHA:1493
Hartsfield Syndrome
Wide nose, Diabetes insipidus, Posteriorly rotated ears, Microcephaly, Alobar holoprosencephaly, ... OMIM:615465
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Hypotelori... OMIM:620156
17P13.3 Microduplication Syndrome
Wide nose, Hypertelorism, Low-set ears, Hypoplasia of the corpus callosum, Short nose ORPHA:217385
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Bulbous nose, Deeply set eye, Hypogonad... OMIM:300869
Cerebrooculofacioskeletal Syndrome 4
Posteriorly rotated ears, Prominent nasal bridge, Microcephaly, Bilateral microphthalmos, Simplif... OMIM:610758
Mycophenolate Mofetil Embryopathy
Hypertelorism, Hydrocephalus, Anotia, Microtia, Bifid nose, Chorioretinal coloboma, Atresia of th... ORPHA:268249
Microcephaly, Amish Type
Hypoplasia of the fovea, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, O... OMIM:607196
Neurooculocardiogenitourinary Syndrome
Prominent nasal bridge, Hypertelorism, Bilateral cryptorchidism, Sensorineural hearing impairment... OMIM:618652
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Coloboma, Hypoplasia of the brainstem, Pachygyria, Agenesis of corpus ca... OMIM:236670
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Microtia, Deeply set eye, Postnatal macrocephaly, Periventricular white matter hyperintensities OMIM:618158
Rhombencephalosynapsis
Low-set, posteriorly rotated ears, Septo-optic dysplasia, Agenesis of cerebellar vermis, Antevert... ORPHA:59315
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Hypertelorism, Broad nasal tip, Short nose, Macrocephaly OMIM:613670
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Hypertelorism, Microcephaly, Bulbous nose, Wide nasal bridge, Deeply set eye, Macrotia ORPHA:261304
Meckel Syndrome
Encephalocele, Low-set, posteriorly rotated ears, Anophthalmia, Pancreatic fibrosis, Microcephaly... ORPHA:564
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Corneal scarring, Buphthalmos, Microphthalmia, Iris coloboma OMIM:212550
Emanuel Syndrome
Delayed eruption of primary teeth, Microcephaly, Hearing impairment, Cryptorchidism, Hydrocephalu... OMIM:609029
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Microcephaly, Simplified gyral pattern, Decreased thalamic volume, Hypoplasia of the brainstem, C... OMIM:619072
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Microcephaly, Cerebral atrophy, Deeply set eye, Hypoplasia of the corpus callosum, Polymicrogyria OMIM:614254
Smith-Magenis Syndrome
Anteverted nares, Depressed nasal bridge, Delayed eruption of primary teeth, Microcephaly, Precoc... ORPHA:819
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Abnormal pinna morphology, Prominent nasal bridge, Choanal atresia, Sensorineural hearing impairm... ORPHA:52055
Developmental And Epileptic Encephalopathy 64
Anteverted nares, Depressed nasal bridge, Microcephaly, Broad nasal tip, Deeply set eye, Low inse... OMIM:618004
Intellectual Developmental Disorder, Autosomal Recessive 45
Anteverted nares, Hypertelorism, Bulbous nose, Wide nasal bridge, Deeply set eye OMIM:615979
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Amoebiasis Due To Free-Living Amoebae
Facial palsy, Abnormal basal ganglia morphology, Abnormal hypothalamus morphology, Abnormal cereb... ORPHA:68
Holoprosencephaly 1
Proboscis, Facial cleft, Microphthalmia, Midface retrusion, Median cleft lip and palate OMIM:236100
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Posteriorly rotated ears, Prominent nasal bridge, Microcephaly, Hypertelorism, Bulbous nose, Spin... OMIM:617360
Cockayne Syndrome Type 2
Anophthalmia, Delayed eruption of primary teeth, Cryptorchidism, Male hypogonadism, Subcortical w... ORPHA:90322
Endocrine-Cerebroosteodysplasia
Natal tooth, Absent septum pellucidum, Adrenal hypoplasia, Focal polymicrogyria, Cryptorchidism, ... OMIM:612651
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Cerebral white matter atrophy, Microcephaly, Puberty and gonadal disorders, Hypertelorism, Sensor... ORPHA:464282
6P22 Microdeletion Syndrome
Hydrocephalus, Hypotelorism, Deeply set eye, Low-set ears, Overfolded helix, Hearing impairment ORPHA:251046
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Cataract ORPHA:363741
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Anteverted nares, Posteriorly rotated ears, Microcephaly, Delayed eruption of permanent teeth, Lo... OMIM:618506
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly OMIM:619466
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose, Primary microcephaly OMIM:245570
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Microphthalmia, Death in infancy OMIM:613730
Hydrocephalus, Congenital, X-Linked
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Macrocephaly, Corticospinal tract h... OMIM:307000
Rhyns Syndrome
Deeply set eye, Hypopituitarism, Hearing impairment ORPHA:140976
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Narrow nasal bridge, Cerebellar vermis hypoplasia, Depressed nasal bridge, Precocious puberty, Cr... OMIM:620073
1Q41Q42 Microdeletion Syndrome
Depressed nasal bridge, Hypergonadotropic hypogonadism, Broad nasal tip, Underdeveloped nasal ala... ORPHA:250999
Kapur-Toriello Syndrome
Posteriorly rotated ears, Dysplastic corpus callosum, Bulbous nose, Retinal coloboma, Atresia of ... ORPHA:2328
8Q24.3 Microdeletion Syndrome
Branchial cyst, Ectopic posterior pituitary, Anteverted nares, Optic nerve hypoplasia, Asymmetry ... ORPHA:508488
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity, Hypergonadotropic hypogonadism, Leukoencephalopathy, F... OMIM:613724
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Hypertelorism, Microcephaly, Cryptorchidism, Low-set ears, Conductive hea... OMIM:616910
Congenital Disorder Of Glycosylation, Type Iiq
Diffuse cerebral atrophy, Secondary microcephaly, Small pituitary gland, Hypoplasia of the corpus... OMIM:617395
Cog2-Cdg
Diffuse cerebral atrophy, Secondary microcephaly, Small pituitary gland, Hypoplasia of the corpus... ORPHA:435934
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Depressed nasal bridge, Posteriorly rotated ears, Microcephaly, Hypertelorism, Hydrocephalus, Opt... OMIM:619833
Spinocerebellar Ataxia 23
Agenesis of corpus callosum OMIM:610245
3Mc Syndrome 3
Facial cleft, Cleft palate, Cleft upper lip OMIM:248340
Agnathia-Otocephaly Complex
Wide nose, Holoprosencephaly, Low-set ears, Conductive hearing impairment, Agenesis of corpus cal... OMIM:202650
Clark-Baraitser Syndrome
Depressed nasal bridge, Anteverted nares, Microcephaly, Hypertelorism, Large earlobe, Low-set ear... OMIM:617752
Apert Syndrome
Delayed eruption of teeth, Depressed nasal bridge, Absent septum pellucidum, Choanal atresia, Hyp... ORPHA:87
Galloway-Mowat Syndrome 5
Hypertelorism, Deeply set eye, Large earlobe, Primary microcephaly, Pachygyria, Periventricular l... OMIM:617731
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Depressed nasal bridge, Supernumerary nipple, Microcephaly, Hypertelorism, Bulbous nose, Wide nas... OMIM:620098
Intellectual Developmental Disorder, Autosomal Dominant 7
Abnormal pinna morphology, Microcephaly, Bulbous nose, Hypotelorism, Deeply set eye, Thickened he... OMIM:614104
Matthew-Wood Syndrome
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Microphthalmia, Annular pancreas ORPHA:2470
Autosomal Recessive Primary Microcephaly
Pachygyria, Hypoplasia of the frontal lobes, Agenesis of corpus callosum, Microcephaly ORPHA:2512
Foxg1 Syndrome Due To 14Q12 Microdeletion
Depressed nasal bridge, Microcephaly, Bulbous nose, Protruding ear, Abnormal antihelix morphology... ORPHA:261144
Congenital Disorder Of Glycosylation, Type Iu
Death in infancy, Cerebral white matter atrophy, Optic atrophy, Hypotelorism, Secondary microceph... OMIM:615042
Mosaic Variegated Aneuploidy Syndrome 1
Wide nose, Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Microcephaly, Hypo... OMIM:257300
Intellectual Developmental Disorder, Autosomal Dominant 22
Depressed nasal bridge, Abnormal pinna morphology, Hypertelorism, Long nose, Microcephaly, Low-se... OMIM:612337
Basel-Vanagaite-Smirin-Yosef Syndrome
Prominent nasal tip, Anteverted nares, Cholelithiasis, Microcephaly, Hypertelorism, Cerebral atro... ORPHA:464738
Constricting Bands, Congenital
Facial cleft, Cleft palate, Cleft upper lip OMIM:217100
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia OMIM:601349
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Anterior pituitary hyp... ORPHA:67045
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal nostril morphology, Hypotelorism, Microcephaly ORPHA:3469
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Microcephaly, Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Death in chi... OMIM:619517
Pettigrew Syndrome
Cerebellar vermis hypoplasia, Cerebral calcification, Microcephaly, Aqueductal stenosis, Basal ga... OMIM:304340
Trichothiodystrophy 4, Nonphotosensitive
Anteverted nares, Microcephaly, Partial agenesis of the corpus callosum, Optic atrophy, Microphth... OMIM:234050
Donnai-Barrow Syndrome
Depressed nasal bridge, Posteriorly rotated ears, Hypertelorism, Sensorineural hearing impairment... ORPHA:2143
Developmental Delay With Variable Neurologic And Brain Abnormalities