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Gene: Hesx1 MGI:96071

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Gene Summary

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

Order Alleles

IMPC Data Collections

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

Download data as:  TSV  XLS

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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

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Gross Morphology Embryo E18.5

Images

4 Images

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Electrocardiogram (ECG)

Waveform Image

15 Images

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X-ray

XRay Images Skull Lateral Orientation

8 Images

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Download thumbnail Download
MicroCT E18.5

Embryo reconstruction

9 Images

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Gross Morphology Placenta E18.5

Images

2 Images

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X-ray

XRay Images Whole Body Dorso Ventral

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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X-ray

XRay Images Forepaw

8 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

8 Images

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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
Anophthalmia, Microphthalmia ORPHA:85275
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly, Anophthalmia, Iris coloboma, Bilateral microphthalmos, Microphthalmia, Chorior... OMIM:611638
Microphthalmia, Isolated, With Coloboma 10
Iris coloboma, Microcoria, Anophthalmia, Microphthalmia OMIM:616428
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Microphthalmia, Isolated, With Coloboma 7
Coloboma, Microphthalmia OMIM:614497
Fryns Microphthalmia Syndrome
Bilateral cleft lip and palate, Anophthalmia, Facial cleft, Microphthalmia OMIM:600776
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Microphthalmia, Isolated 3
Anophthalmia, Sclerocornea, Microphthalmia OMIM:611038
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract, Microphthalmia OMIM:610092
Microphthalmia, Isolated, With Coloboma 4
Coloboma, Microphthalmia OMIM:251505
Facial Clefting, Oblique, 1
Cleft upper lip, Facial cleft, Cleft palate OMIM:600251
Frontonasal Dysplasia 3
Brachycephaly, Facial cleft, Cleft palate, Microphthalmia OMIM:613456
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Coloboma, Hypoplasia of the fovea, Optic disc hypoplasia OMIM:613703
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Nanophthalmos 4
Microphthalmia OMIM:615972
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ... ORPHA:95494
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Cleft upper lip, High, narrow palate, Cleft palate, Optic nerve hypoplasia, Brachyturricephaly, F... OMIM:607597
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Abnormality of the anterior commissure, Agen... OMIM:617542
Cerebrooculonasal Syndrome
High palate, U-Shaped upper lip vermilion, Long philtrum, Microdontia, Anophthalmia, Widely space... ORPHA:66625
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Microphthalmia, Isolated 4
Coloboma, Microphthalmia OMIM:613094
Anencephaly 2
Anophthalmia, Median cleft palate, Median cleft lip, Cleft of alveolar ridge of maxilla OMIM:619452
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Hypotelorism, Decreased response to growth hormone stimulation t... OMIM:147250
Cataract 11, Multiple Types
Cataract, Microphthalmia OMIM:610623
Anophthalmia Plus Syndrome
Cleft palate, Anophthalmia, Bilateral cleft lip and palate, Facial cleft, Non-midline cleft lip ORPHA:1104
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Bulbous nose, Cerebral atrophy, Absent septum pellucidum, Microcephaly, Hypoplasia of the corpus ... OMIM:618492
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract, Microphthalmia OMIM:604219
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Gombo Syndrome
Delayed puberty, Microphthalmia OMIM:233270
3Q13 Microdeletion Syndrome
Macrocephaly, Hypertelorism, Anteverted nares, Cryptorchidism, Agenesis of corpus callosum, Wide ... ORPHA:1621
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Microcornea, Microphthalmia ORPHA:2432
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Cleft ala nasi, Anophthalmia, Hypoplasia of the corpus callosum, Microphth... OMIM:164180
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Low-set ears, Bulbous nose, Frontal cortical atrophy, Depressed nasal bridge, Microcephaly, Parie... OMIM:618766
Syngnathia
Cleft palate OMIM:119550
Warburg Micro Syndrome 1
Perisylvian polymicrogyria, Low-set ears, Deeply set eye, Cerebral atrophy, Microcephaly, Macroti... OMIM:600118
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Lissencephaly 4
Cerebellar hypoplasia, Lissencephaly, Primary microcephaly, Simplified gyral pattern, Colpocephal... OMIM:614019
Non-Acquired Panhypopituitarism
Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ... ORPHA:90695
Microcephaly 17, Primary, Autosomal Recessive
Bulbous nose, Hypertelorism, Microcephaly, Cerebellar hypoplasia, Macrotia, Simplified gyral patt... OMIM:617090
Microphthalmia, Isolated 8
Retinal coloboma, Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia OMIM:615113
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Macrocephaly, Aplasia/Hypoplasia of the cerebellar vermis, Low-set ears, Posterior... OMIM:300864
Chudley-Mccullough Syndrome
Hydrocephalus, Dysplastic corpus callosum, Cerebellar hypoplasia, Hypoplasia of the corpus callos... OMIM:604213
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Oculomaxillofacial Dysostosis
Aplasia/Hypoplasia affecting the eye, Cleft palate, Abnormality of the dentition, Facial cleft, M... ORPHA:1794
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Microcephaly, Cortical dysplasia, Hypoplasia of the corpus callosum, Frontal polymicrogyria, Liss... OMIM:614039
Frontonasal Dysplasia 1
Low-set ears, Conductive hearing impairment, Broad nasal tip, Bifid nose, Coloboma, Bifid nasal t... OMIM:136760
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Microcephaly, Cortical dysplasia, Cerebellar hypoplasia, Hypoplasia of the... OMIM:608716
Dihydropyrimidine Dehydrogenase Deficiency
Cerebral atrophy, Microcephaly, Coloboma, Optic atrophy, Microphthalmia, Agenesis of corpus callosum OMIM:274270
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Thickened helices, Low-set ears, Deeply set eye, Hypertelorism, Supernumerary nipple, Macrocephal... OMIM:618929
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Cleft palate, Microphthalmia OMIM:221950
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Unilateral polymicrogyria... OMIM:610031
Frontofacionasal Dysplasia
Cleft palate, Non-midline cleft lip, Facial cleft, Microphthalmia, Brachycephaly, Midface retrusion ORPHA:1791
Hydrolethalus
Low-set ears, Hydrocephalus, Deeply set eye, Absent septum pellucidum, Abnormality of the sense o... ORPHA:2189
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum, Microphthalmia OMIM:614402
Congenital Primary Aphakia
Congenital aphakia, Microphthalmia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segme... ORPHA:83461
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Macrocephaly, Large basal ganglia, Hypoplasia of the corpus callosum, Polymicrogyria, Primary mic... ORPHA:300570
Acrofacial Dysostosis, Weyers Type
Hypodontia, Abnormality of the dentition, Advanced eruption of teeth, Conical tooth, Solitary med... ORPHA:952
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Macrocephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Hypertelorism, Agenesis of cor... ORPHA:166024
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Microphthalmia OMIM:614830
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Microphthalmia, Syndromic 12
Cryptorchidism, Anophthalmia, Microphthalmia OMIM:615524
Band Heterotopia
Hydrocephalus, Macrocephaly, Polymicrogyria, Subcortical band heterotopia, Agenesis of corpus cal... OMIM:600348
Foveal Hypoplasia 2
Posterior embryotoxon, Hypoplasia of the fovea, Microphthalmia OMIM:609218
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Mild malformation of corti... ORPHA:500166
Meckel Syndrome, Type 8
Low-set ears, Depressed nasal ridge, Microcephaly, Anophthalmia, Short nose, Microphthalmia, Ence... OMIM:613885
Holoprosencephaly 7
Hydrocephalus, Hypotelorism, Alobar holoprosencephaly, Macrocephaly, Holoprosencephaly, Panhypopi... OMIM:610828
Biemond Syndrome Type 2
Coloboma, Hydrocephalus, Microphthalmia ORPHA:141333
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Large earlobe, Sensorineural hearing impairment, Broad nasal tip, Hypoplasia of the corpus callos... OMIM:612948
Nanophthalmos
Microphthalmia ORPHA:35612
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Death in childhood, Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of cer... OMIM:613153
Developmental And Epileptic Encephalopathy 88
Depressed nasal bridge, Hypoplasia of the pons, Inferior cerebellar vermis hypoplasia, Partial ag... OMIM:618959
Mental Retardation Syndrome, Belgian Type
Deeply set eye, Hypergonadotropic hypogonadism, Cleft ala nasi, Coloboma, Wide nose, Diabetes mel... OMIM:249599
Lissencephaly 3
Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Agyria, Cerebellar vermis hypopl... OMIM:611603
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Large earlobe, Bulbous nose, Hypoplasia of the corpus callosum, Hypertelorism, Agenesis of corpus... ORPHA:262767
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Coloboma, Microphthalmia OMIM:120433
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Hypertelorism, Hypoplasia of the corpus callosum, Short nose, Proptosis, Anteverte... OMIM:618577
Schizencephaly
Cerebral cortical atrophy, Agenesis of corpus callosum, Schizencephaly OMIM:269160
Duplication Of The Pituitary Gland
Abnormality of the pituitary gland, Hypertelorism, Abnormal hypothalamus morphology, Microcephaly... ORPHA:314621
Corpus Callosum, Agenesis Of
Microcephaly, Macrocephaly, Agenesis of corpus callosum OMIM:217990
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Microphthalmia, Sclerocornea OMIM:269400
Craniotelencephalic Dysplasia
Hydrocephalus, Microcephaly, Agenesis of corpus callosum, Arrhinencephaly, Cerebellar hypoplasia,... ORPHA:1528
Septooptic Dysplasia
Decreased response to growth hormone stimulation test, Absent septum pellucidum, Optic nerve hypo... OMIM:182230
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae, Microphthalmia OMIM:156900
Van Der Woude Syndrome 2
Cleft upper lip, Anodontia, Cleft palate OMIM:606713
Acromelic Frontonasal Dysostosis
Hypertelorism, Cryptorchidism, Encephalocele, Broad nasal tip, Bifid nose, Hypoplasia of the corp... OMIM:603671
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Iris coloboma, Microphthalmia, Cho... ORPHA:231736
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Frontal bossing, Pierre-Robin sequence, Cleft palate OMIM:311895
Thyroid Hormone Metabolism, Abnormal, 1
Hypothyroidism, Decreased circulating free T3, Elevated circulating thyroid-stimulating hormone c... OMIM:609698
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, Narrow mouth, Facial cleft, Cleft palate OMIM:239800
Craniopharyngioma
Enlarged pituitary gland, Hydrocephalus, Type II diabetes mellitus, Abnormal hypothalamus morphol... ORPHA:54595
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Coloboma, Hydrocephalus, Occipital encephalocele, Microphthalmia ORPHA:324416
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Bilateral cleft lip and palate, Facial cleft OMIM:601357
Walker-Warburg Syndrome
Low-set ears, Hydrocephalus, Protruding ear, Macrocephaly, Pachygyria, Absent septum pellucidum, ... ORPHA:899
Cerebrooculofacioskeletal Syndrome 1
Sensorineural hearing impairment, Deeply set eye, Basal ganglia calcification, Microcephaly, Deat... OMIM:214150
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microcornea, Iris coloboma, Cataract, Microphthalmia, Agenesis of corpus callosum, ... ORPHA:139471
Trisomy 1Q
Low-set ears, Hydrocephalus, Hypotelorism, Hypertelorism, Macrocephaly, Depressed nasal bridge, A... ORPHA:261344
Sub-Cortical Nodular Heterotopia
Abnormal basal ganglia morphology, Polymicrogyria, Hypoplasia of the corpus callosum, Abnormal ce... ORPHA:101029
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Depressed nasal bridge, Microcephaly, Agenesis of corpus callosum, Decreased response to growth h... OMIM:615286
Supernumerary Nostril
Facial cleft ORPHA:141096
Microcephaly 16, Primary, Autosomal Recessive
Microcephaly, Cryptorchidism, Simplified gyral pattern, Agenesis of corpus callosum OMIM:616681
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum, Anterior hypopituitarism OMIM:601016
Combined Oxidative Phosphorylation Deficiency 25
Low-set ears, Decreased response to growth hormone stimulation test, Cerebral atrophy, Depressed ... OMIM:616430
Microform Holoprosencephaly
Hypotelorism, Holoprosencephaly, Panhypopituitarism, Microcephaly, Maternal diabetes, Narrow nasa... ORPHA:280200
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Cerebellar hypoplasia, Primary microcephaly, Agenesis of corpus callosum, Polymicrogyria ORPHA:171703
Holoprosencephaly
Abnormal antihelix morphology, Hydrocephalus, Macrocephaly, Depressed nasal ridge, Depressed nasa... ORPHA:2162
Craniotelencephalic Dysplasia
Hypotelorism, Absent septum pellucidum, Optic nerve hypoplasia, Agenesis of corpus callosum, Arrh... OMIM:218670
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Microphthalmia ORPHA:2528
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Hypergon... OMIM:614963
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Death in infancy, ... OMIM:619302
Pettigrew Syndrome
Sensorineural hearing impairment, High-frequency hearing impairment, Hydrocephalus, Deeply set ey... OMIM:304340
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Large earlobe, Prominent ear helix, Bulbous nose, Broad nasal tip, Anophthalmia, Hypoplasia of th... ORPHA:411986
Lissencephaly, X-Linked, 1
Agyria, Lissencephaly, Death in infancy, Pachygyria, Agenesis of corpus callosum OMIM:300067
Masa Syndrome
Microcephaly, Hydrocephalus, Macrocephaly, Agenesis of corpus callosum OMIM:303350
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Triopia
Cleft palate, Dolichocephaly, Midline facial cleft, Frontal bossing, Median cleft lip ORPHA:3374
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Holoprosencephaly, Anophthalmia, Iris coloboma, Microphthalmia, Agenesis of corpus... ORPHA:77298
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Macrocephaly, Umbilical hernia, Hypertelorism, Agenesis of corpus callosum, Wide n... ORPHA:380
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Low-set ears, Microphthalmia, Cryptorchidism, Hypertelorism, Depressed nasal bridge, Bifid nose, ... ORPHA:228390
Baraitser-Winter Syndrome 1
Sensorineural hearing impairment, Low-set ears, Hypertelorism, Pachygyria, Overfolded helix, Micr... OMIM:243310
Mental Retardation, X-Linked, With Craniofacial Dysmorphism
Frontal bossing, Plagiocephaly, Brachycephaly OMIM:300064
Non-Distal Trisomy 10Q
Aplasia/Hypoplasia affecting the eye, Convex nasal ridge, Hypertelorism, Depressed nasal bridge, ... ORPHA:1695
Pierpont Syndrome
Large fleshy ears, Deeply set eye, Hypertelorism, Broad nasal tip, Microcephaly, Hearing impairme... OMIM:602342
Congenital Muscular Dystrophy With Cerebellar Involvement
Decreased thalamic volume, Hydrocephalus, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the... ORPHA:370959
Holoprosencephaly 9
Hydrocephalus, Hypotelorism, Decreased response to growth hormone stimulation test, Cryptorchidis... OMIM:610829
Autosomal Recessive Spastic Paraplegia Type 69
Hearing impairment, Cerebral cortical atrophy, Agenesis of corpus callosum, Aplasia/Hypoplasia of... ORPHA:401830
Pyruvate Dehydrogenase E1-Alpha Deficiency
Flared nostrils, Cerebral atrophy, Basal ganglia cysts, Microcephaly, Anteverted nares, Agenesis ... OMIM:312170
Imagawa-Matsumoto Syndrome
Macrocephaly, Hypertelorism, Polymicrogyria, Umbilical hernia, Cryptorchidism, Agenesis of corpus... OMIM:618786
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Frontal encephalocele, Bifid nasal tip, Wide nose, Choanal atresia, Underdeveloped nasal alae, Hy... ORPHA:521308
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum, Death in infancy ORPHA:85334
Forsythe-Wakeling Syndrome
Deeply set eye, Microcephaly, Macrotia, Low-set ears, Prominent nasal bridge OMIM:613606
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Iris coloboma, Microphthalmia OMIM:610023
Baraitser-Winter Syndrome 2
Abnormal pinna morphology, Hypertelorism, Coloboma, Hearing impairment, Lissencephaly, Microphtha... OMIM:614583
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia OMIM:278780
Joubert Syndrome 14
Low-set ears, Hydrocephalus, Deeply set eye, Hypertelorism, Coloboma, Posteriorly rotated ears, M... OMIM:614424
Microhydranencephaly
Microcephaly, Cerebellar hypoplasia, Proptosis, Macrotia, Pachygyria, Hydranencephaly, Prominent ... OMIM:605013
Pierpont Syndrome
Uplifted earlobe, Deeply set eye, Hypertelorism, Macrotia, Abnormal cortical gyration, Hearing im... ORPHA:487825
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Cataract, Microphthalmia OMIM:601794
Usmani-Riazuddin Syndrome, Autosomal Recessive
Low-set ears, Hypertelorism, Posteriorly rotated ears, Agenesis of corpus callosum OMIM:619548
Alazami Syndrome
Deeply set eye, Depressed nasal bridge, Microcephaly, Wide nose, Low-set ears, Wide nasal bridge OMIM:615071
Stromme Syndrome
Low-set ears, Hydrocephalus, Stillbirth, Deeply set eye, Optic nerve hypoplasia, Microcephaly, Ce... OMIM:243605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Sensorineural hearing impairment, Hydrocephalus, Abnormally large globe, Microcephaly, Cerebellar... OMIM:615249
Pituicytoma
Abnormality of the pituitary gland, Decreased serum testosterone concentration, Decreased respons... ORPHA:251623
Anterior Segment Dysgenesis 5
Posterior embryotoxon, Hypoplasia of the fovea, Microcornea, Rieger anomaly, Hypoplasia of the ir... OMIM:604229
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus, Deeply set eye, Microcephaly, Short nose, Macrotia, Anteverted nares, Prominent na... OMIM:300558
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Deeply set eye, Macrocephaly, Microtia, Neonatal death, Anteverted nares, Underdeveloped nasal alae OMIM:612138
Combined Oxidative Phosphorylation Deficiency 50
Partial agenesis of the corpus callosum, Microcephaly, Adrenal insufficiency OMIM:619025
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Iris coloboma, Cataract, Microphthalmia OMIM:212550
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:401820
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Cerebral cortical atrophy, Microcephaly, Hypoplasia of the pons, Optic atrophy, Hearing impairmen... OMIM:617669
Cofs Syndrome
Sensorineural hearing impairment, Cerebral cortical atrophy, Microphthalmia, Cerebral calcificati... ORPHA:1466
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Temporal cortical atrophy, Deeply set eye, Frontal cortical atrophy, Aplasia/Hypoplasia of the ce... ORPHA:137831
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Bulbous nose, Dysplastic corpus callosum, Small basal ganglia, Cerebral atrophy, Deeply set eye, ... OMIM:616900
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Microcephaly, Optic atrophy, Optic disc pallor, Proptosis, Prominent nose, Micr... OMIM:616171
Holoprosencephaly 5
Hydrocephalus, Hypotelorism, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Depres... OMIM:609637
17Q21.31 Microduplication Syndrome
Anteverted nares, Microcephaly, Short nose, Delayed puberty ORPHA:217340
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Deeply set eye, Macrocephaly, Decreased response to growth hormone stimulation tes... OMIM:609757
Ventriculomegaly And Arthrogryposis
Cerebellar hypoplasia, Agenesis of corpus callosum OMIM:619501
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Colpocephaly, Agenesis of cor... ORPHA:250972
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Cleft palate, Non-midline cleft lip ORPHA:1074
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Hypodontia, Lip pit, Frontal bossing, Facial cleft, Microphthalmia, Abnormal palate morphology, B... ORPHA:1236
Mental Retardation, Buenos Aires Type
Low-set ears, Hydrocephalus, Protruding ear, Microcephaly, Partial agenesis of the corpus callosu... OMIM:249630
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sensorineural hearing impairment, Deeply set eye, Broad nasal tip, Broad columella, Hypothyroidis... OMIM:617763
Pontocerebellar Hypoplasia, Type 6
Deeply set eye, Cerebral atrophy, Microcephaly, Death in childhood, Cerebellar hypoplasia, Progre... OMIM:611523
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Depressed nasal bridge, Thyroid hypoplasia, Umbilica... ORPHA:226307
Lissencephaly Syndrome, Norman-Roberts Type
Low-set ears, Hypertelorism, Cerebral calcification, 4-layered lissencephaly, Hypoplasia of the c... ORPHA:89844
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Hypertelorism, Microphthalmia, Low-set ears, Agenesis of corpus callosum, Wide nasal bridge ORPHA:93267
Orofaciodigital Syndrome Xv
Anteverted nares, Hypertelorism, Agenesis of corpus callosum, Wide nasal bridge OMIM:617127
Isolated Dandy-Walker Malformation
Frontal bossing, Cleft palate, Platybasia, Prominent occiput ORPHA:217
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Cataract, Bilateral microphthalmos OMIM:608763
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Pallister-Hall-Like Syndrome
Hydrocephalus, Macrocephaly, Hypothalamic hamartoma, Depressed nasal bridge, Anterior hypopituita... OMIM:241800
Microcephaly 3, Primary, Autosomal Recessive
Sensorineural hearing impairment, Small cerebral cortex, Microcephaly, Mixed hearing impairment, ... OMIM:604804
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Cerebral cortical atrophy, Deeply set eye, Holoprosencephaly, Microcephaly, Abnormality of the di... ORPHA:2570
Masa Syndrome
Agenesis of corpus callosum ORPHA:2466
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Bulbous nose, Abnormal pinna morphology, Macrocephaly, Hypoplasia of the corpus callosum, Optic a... OMIM:616975
Congenital Neuronal Ceroid Lipofuscinosis
Cerebral hypoplasia, Low-set ears, Microcephaly, Cerebellar hypoplasia, Aplasia/Hypoplasia of the... ORPHA:168486
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Macrocephaly, Hypertelorism, Umbilical hernia, Cryptorchidism, Agenesis of corpus ... OMIM:175700
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Ectopic posterior pituitary, Microphthalmia, Cryptorchidism OMIM:610125
Diabetes Insipidus, Neurohypophyseal
Decreased circulating osteocalcin level, Wide nose, Short nose, Central diabetes insipidus, Hyper... OMIM:125700
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Conductive hearing impairment, Cerebral atrophy, Agenesi... ORPHA:85179
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Aplasia/Hypoplasia involving the nose, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, L... ORPHA:990
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Thick corpus callosum, Sensorineural hearing impairment, Abnormality of the endocrine system, Dee... ORPHA:464288
Dworschak-Punetha Neurodevelopmental Syndrome
Large earlobe, Dysplastic corpus callosum, Depressed nasal bridge, Microcephaly, Cupped ear, Opti... OMIM:619955
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Posterior embryotoxon, Iris coloboma, Cataract, Microphthalmia ORPHA:1473
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Microcephaly, Dysplastic corpus callosum OMIM:618276
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Partia... OMIM:304100
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Large earlobe, Hydrocephalus, Cavum septum pellucidum, Depressed nasal bridge, Polymicrogyria, Mi... OMIM:602501
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Treacher-Collins Syndrome
High palate, Wide mouth, Cleft upper lip, Tooth agenesis, Narrow mouth, Cleft palate, Open bite, ... ORPHA:861
Xq27.3Q28 Duplication Syndrome
Bulbous nose, Deeply set eye, Decreased testicular size, Hypogonadism, Cryptorchidism ORPHA:261483
Microphthalmia, Syndromic 13
Coloboma, Microphthalmia OMIM:300915
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
14Q22Q23 Microdeletion Syndrome
Hypertelorism, Cryptorchidism, Abnormality of the hypothalamus-pituitary axis, Cupped ear, Anopht... ORPHA:264200
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Decreased circulating free T3, Abnormal circulating insulin concentration, Elevated circulating t... ORPHA:171706
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal basal ganglia morphology, Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callo... ORPHA:255182
Chromosome 3Q13.31 Deletion Syndrome
Low-set ears, Hypertelorism, Alobar holoprosencephaly, Decreased testicular size, Macrotia, Crypt... OMIM:615433
Dystonia 30
Diffuse cerebral atrophy, Globus pallidus hypointensity on susceptibility-weighted imaging, Hypot... OMIM:619291
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum OMIM:619101
6Q25 Microdeletion Syndrome
Sensorineural hearing impairment, Abnormal pinna morphology, Microcephaly, Low-set, posteriorly r... ORPHA:251056
Joubert Syndrome With Renal Defect
Hydrocephalus, Aganglionic megacolon, Biparietal narrowing, Abnormality of the hypothalamus-pitui... ORPHA:220497
Pontocerebellar Hypoplasia, Type 14
Hypoplasia of the pons, Cerebellar hypoplasia, Death in infancy, Simplified gyral pattern, Agenes... OMIM:619301
Adenylosuccinate Lyase Deficiency
Microcephaly, Short nose, Hypointensity of cerebral white matter on MRI, Anteverted nares, Low-se... ORPHA:46
X-Linked Intellectual Disability, Cilliers Type
Deeply set eye, Decreased serum testosterone concentration, Cryptorchidism, Hypergonadotropic hyp... ORPHA:163971
Isolated Exencephaly
Holoprosencephaly, Depressed nasal bridge, Maternal diabetes, Aplasia/Hypoplasia of the cerebellu... ORPHA:563612
Microphthalmia, Syndromic 3
Sensorineural hearing impairment, Cryptorchidism, Bilateral sensorineural hearing impairment, Hyp... OMIM:206900
Mmep Syndrome
Cryptorchidism, Microphthalmia ORPHA:3434
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Bulbous nose, Deeply set eye, Protruding ear, Broad nasal tip, Depressed nasal bridge, Microcepha... ORPHA:480907
Acromelic Frontonasal Dysplasia
Hypoplasia of the olfactory bulb, Hypertelorism, Cryptorchidism, Encephalocele, Broad nasal tip, ... ORPHA:1827
Congenital Laryngomalacia
Cleft palate, Non-midline cleft lip ORPHA:2373
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Low-set ears, Remnants of the hyaloid vascular system, Hydrocephalus, Deeply set eye, Macrocephal... OMIM:614643
Joubert Syndrome 37
Low-set ears, Deeply set eye, Hypertelorism, Hypoplasia of the corpus callosum, Wide nose, Cerebe... OMIM:619185
Bresek Syndrome
Low-set ears, Hydrocephalus, Protruding ear, Convex nasal ridge, Optic nerve hypoplasia, Microcep... ORPHA:85284
Bowen Syndrome Of Multiple Malformations
Death in childhood, Agenesis of corpus callosum OMIM:211200
Holoprosencephaly 11
Hypotelorism, Holoprosencephaly, Microcephaly, Proptosis, Agenesis of corpus callosum OMIM:614226
Microphthalmia With Limb Anomalies
High palate, Cleft upper lip, Cleft palate, Anophthalmia, Frontal bossing, Deep philtrum, Microph... OMIM:206920
Cerebrooculonasal Syndrome
Low-set ears, Hydrocephalus, Conductive hearing impairment, Hypertelorism, Macrocephaly, Optic ne... OMIM:605627
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Cavum septum pellucidum, Microcephaly, Cortical dysplasia, Hypoplasia... ORPHA:300573
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Sensorineural hearing impairment, Hyposmia, Hypogonadotropic hypogonadism, Agenesis of corpus cal... OMIM:147950
Hartsfield Syndrome
Hypertelorism, Depressed nasal bridge, Low-set, posteriorly rotated ears, Microphthalmia, Encepha... ORPHA:2117
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Thick upper lip vermilion, Cleft palate, Abnormality of the dentition, Short philtrum, Thin upper... OMIM:226440
Fetal Akinesia Syndrome, X-Linked
Stillbirth, Agenesis of corpus callosum, Arrhinencephaly OMIM:300073
Oculocerebrocutaneous Syndrome
Wide mouth, Calvarial skull defect, Facial cleft, Oral cleft ORPHA:1647
Donnai-Barrow Syndrome
Sensorineural hearing impairment, Low-set ears, Macrocephaly, Broad nasal tip, Depressed nasal br... OMIM:222448
Joubert Syndrome With Ocular Defect
Hydrocephalus, Aganglionic megacolon, Biparietal narrowing, Retinal coloboma, Abnormality of the ... ORPHA:220493
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Cataract, Microphthalmia, Posterior synechiae o... OMIM:610256
Perlman Syndrome
Low-set ears, Hyperinsulinemia, Abnormal pancreas morphology, Deeply set eye, Macrocephaly, Short... ORPHA:2849
Congenital Disorder Of Glycosylation, Type Iiq
Diffuse cerebral atrophy, Secondary microcephaly, Small pituitary gland, Hypoplasia of the corpus... OMIM:617395
O'Donnell-Luria-Rodan Syndrome
Macrocephaly, Deeply set eye, Abnormal cerebral white matter morphology, Cryptorchidism, Abnormal... OMIM:618512
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Hypertelorism, Microcephaly, Hearing impairment, Short columella, Low-set ears, Agenesis of corpu... OMIM:619989
14Q11.2 Microdeletion Syndrome
Deeply set eye, Depressed nasal bridge, Low-set, posteriorly rotated ears, Short nose, Hypertelorism ORPHA:261120
Chromosome 1Q41-Q42 Deletion Syndrome
Low-set ears, Deeply set eye, Hypertelorism, Supernumerary nipple, Hypotelorism, Holoprosencephal... OMIM:612530
Cleft Palate, Isolated
Gingival overgrowth, Anterior open-bite malocclusion, Increased overbite, Cleft palate OMIM:119540
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Low-set ears, Hydrocephalus, Agenesis of cerebellar vermis, Short nose, Cerebellar vermis hypopla... ORPHA:163961
Chromosome 13Q33-Q34 Deletion Syndrome
Deeply set eye, Hypertelorism, Cryptorchidism, Low hanging columella, Dandy-Walker malformation, ... OMIM:619148
Oculocerebrodental Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Dysplastic corpus callosum, Foca... ORPHA:557003
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Large earlobe, Depressed nasal bridge, Microcephaly, Partial agenesis of the corpus callosum, Opt... OMIM:618346
Maternal Uniparental Disomy Of Chromosome X
Depressed nasal bridge, Microcephaly, Agenesis of corpus callosum, Primary gonadal insufficiency ORPHA:261519
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Short nose, Macrotia, Progressive microcephaly, Hypertelorism, Dandy-Walk... ORPHA:438178
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Anteverted nares, Cerebral cortical atrophy, Deeply set eye, Hypoplasia of the corpus callosum OMIM:618859
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Partial agenesis of the corpus callosum OMIM:233810
Autosomal Recessive Spastic Paraplegia Type 11
Cerebral cortical atrophy, Frontal cortical atrophy, Orthostatic hypotension, Hypoplasia of the c... ORPHA:2822
16P13.11 Microdeletion Syndrome
Sensorineural hearing impairment, Low-set ears, Holoprosencephaly, Depressed nasal bridge, Microc... ORPHA:261236
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Optic nerve hypoplasia, Microcephaly, Polymicrogyria, Lissencephaly, ... OMIM:614833
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Facial diplegia, Decreased sensory nerve conduction velocity, Decreased motor nerve conduction ve... OMIM:218000
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Bulbous nose, Deeply set eye, Cerebral atrophy, Depressed nasal bridge, Macrotia, Anteverted nares OMIM:617268
Intellectual Developmental Disorder, Autosomal Dominant 36
Hydrocephalus, Microcephaly, Hypoplasia of the corpus callosum, Anteverted nares, Hypertelorism, ... OMIM:616362
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Flared nostrils, Low-set ears, Deeply set eye, Decreased response to growth hormone stimulation t... ORPHA:280679
Adams-Oliver Syndrome 2
Low-set ears, Bulbous nose, Protruding ear, Macrocephaly, Cerebral atrophy, Depressed nasal bridg... OMIM:614219
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Hydrocephalus, Macrocephaly, Proptosis, Rieger anomaly, Abnorma... OMIM:109120
Gaba-Transaminase Deficiency
Cerebellar hypoplasia, Death in childhood, Agenesis of corpus callosum OMIM:613163
Glycine Encephalopathy
Agenesis of corpus callosum, Death in infancy OMIM:605899
Holoprosencephaly, Recurrent Infections, And Monocytosis
Abnormal pinna morphology, Holoprosencephaly, Microcephaly, Cryptorchidism, Agenesis of corpus ca... OMIM:610680
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Hypertelorism, Macrocephaly, Agenesis of corpus callosum ORPHA:459074
Craniosynostosis 2
Supernumerary tooth, Craniosynostosis, Brachyturricephaly, Frontal bossing, Bicoronal synostosis,... OMIM:604757
Cutis Laxa, Autosomal Recessive, Type Iib
Bulbous nose, Hydrocephalus, Deeply set eye, Hypertelorism, Hypotelorism, Protruding ear, Microce... OMIM:612940
Chromosome 14Q11-Q22 Deletion Syndrome
Low-set ears, Abnormal pinna morphology, Deeply set eye, Depressed nasal bridge, Microcephaly, Hy... OMIM:613457
Trisomy 13
Calvarial skull defect, High, narrow palate, Cleft palate, Abnormality of the dentition, Long phi... ORPHA:3378
Lissencephaly 7 With Cerebellar Hypoplasia
Microcephaly, Cerebellar hypoplasia, Neonatal death, Agyria, Lissencephaly, Death in infancy, Age... OMIM:616342
Malan Overgrowth Syndrome
Deeply set eye, Macrocephaly, Depressed nasal bridge, Hypoplasia of the corpus callosum, Lateral ... ORPHA:420179
Developmental And Epileptic Encephalopathy 73
Sensorineural hearing impairment, Microcephaly, Hypoplasia of the corpus callosum, Narrow nasal b... OMIM:618379
Mucolipidosis Iv
Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Hypergastrinemia OMIM:252650
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Low-set ears, Bulbous nose, Deeply set eye, Cerebral atrophy, Low hanging columella, Hypoplasia o... OMIM:618494
Coach Syndrome 2
Hydrocephalus, Coloboma, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Chorioretinal... OMIM:619111
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Low-set ears, Hydrocephalus, Deeply set eye, Hypertelorism, Supernumerary nipple, Macrocephaly, D... ORPHA:1812
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum, Protruding ear ORPHA:2508
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Leukoencephalopathy, Low-set ears, Cerebral atrophy, Dilated third ventricle, Microcephaly, Corpu... OMIM:619244
Cornelia De Lange Syndrome 5
Deeply set eye, Hypertelorism, Broad nasal tip, Depressed nasal bridge, Microcephaly, Hearing imp... OMIM:300882
Acrofacial Dysostosis, Catania Type
Tooth agenesis, Abnormality of the dentition, Carious teeth, Facial cleft, Abnormal palate morpho... ORPHA:1786
Lissencephaly 6 With Microcephaly
Bulbous nose, Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Partial agenesis o... OMIM:616212
Frontonasal Dysplasia 2
Calvarial skull defect, Anterior plagiocephaly, Parietal foramina, Craniosynostosis, Widely space... OMIM:613451
Intellectual Developmental Disorder, Autosomal Recessive 39
Deeply set eye, Microcephaly, Prominent nose, Macrotia, Anteverted ears OMIM:615541
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Thick upper lip vermilion, Wide mouth, Brachycephaly, Thick lower lip vermilion OMIM:309545
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Hypotelorism, Alobar holoprosencephaly, Microphthalmia, ... OMIM:157170
Congenital Disorder Of Deglycosylation 2
Macrocephaly, Hypothalamic hamartoma, Retinal coloboma, Microtia, Cleft earlobe, Polymicrogyria, ... OMIM:619775
5Q14.3 Microdeletion Syndrome
Deeply set eye, Frontal cortical atrophy, Optic nerve hypoplasia, Hypoplasia of the corpus callos... ORPHA:228384
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Anencephaly, Cortical dysplasia, Cerebellar hypoplasia, Optic nerve dysplasia, Typ... OMIM:615287
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Aplasia/Hypoplasia affecting the eye, Hydrocephalus, Microtia, Depressed nasal ... ORPHA:1914
Lissencephaly, X-Linked, 2
Low-set ears, Lissencephaly, Decreased testicular size, Pachygyria, Prominent nasal bridge, Agene... OMIM:300215
2Q24 Microdeletion Syndrome
Abnormality iris morphology, Cataract, Microphthalmia ORPHA:1617
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Microcephaly, Short nose, Proptosis, Anteverted nares, Low-set ears, Poste... ORPHA:1832
Peho-Like Syndrome
Polymicrogyria, Hypoplasia of the corpus callosum, Optic atrophy, Short nose, Lissencephaly, Prog... OMIM:617507
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Low-set ears, Depressed nasal bridge, Abnormal cerebral white matter morphology, Short nose, Abno... OMIM:613443
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Low-set ears, Depressed nasal bridge, Microcephaly, Hypoplasia of the corpus callosum, Lissenceph... OMIM:618142
Foxg1 Syndrome
Hypoplasia of the corpus callosum, Optic disc hypoplasia, Progressive microcephaly, Pachygyria, A... ORPHA:561854
Chromosome 5P13 Duplication Syndrome
Low-set ears, Bulbous nose, Hypotelorism, Macrocephaly, Proptosis, Hypertelorism, Agenesis of cor... OMIM:613174
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Protruding ear, Deeply set eye, Macrocephaly, Microcephaly, Decreased testicular size, Cryptorchi... ORPHA:85279
Septopreoptic Holoprosencephaly
Perisylvian polymicrogyria, Precocious puberty, Microcephaly, Abnormal septum pellucidum morpholo... ORPHA:280195
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Primary hypothyroidism, Goiter, Agenesis of corpus callosum OMIM:225040
Pontocerebellar Hypoplasia, Type 10
Cerebral cortical atrophy, Microcephaly, Hypoplasia of the corpus callosum, Abnormal cerebral whi... OMIM:615803
Intellectual Developmental Disorder, Autosomal Dominant 65
Bulbous nose, Noncommunicating hydrocephalus, Macrotia, Anteverted nares, Low-set ears, Posterior... OMIM:619320
Encephalopathy Due To Sulfite Oxidase Deficiency
Microcephaly, Short nose, Deeply set eye ORPHA:833
Temtamy Syndrome
Low-set ears, Macrocephaly, Convex nasal ridge, Iris coloboma, Microphthalmia, Hypertelorism, Cho... ORPHA:1777
1Q21.1 Microdeletion Syndrome
Sensorineural hearing impairment, Bulbous nose, Hydrocephalus, Deeply set eye, Microcephaly, Iris... ORPHA:250989
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Thick corpus callosum, Low-set ears, Sensorineural hearing impairment, Deeply set eye, Hypotelori... OMIM:618672
Intellectual Disability-Strabismus Syndrome
Low-set ears, Hypertelorism, Decreased response to growth hormone stimulation test, Cryptorchidis... ORPHA:363528
Al-Raqad Syndrome
Microcephaly, Short nose, Deeply set eye, Low-set ears OMIM:616459
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Low-set ears, Hydrocephalus, Hypertelorism, Cerebral atrophy, Microtia, Depressed nasal bridge, A... ORPHA:171839
Mitochondrial Complex I Deficiency, Nuclear Type 16
Optic atrophy, Caudate atrophy, Agenesis of corpus callosum, Adrenal insufficiency OMIM:618238
Frontorhiny
Congenital conductive hearing impairment, Basal encephalocele, Hypertelorism, Encephalocele, Apla... ORPHA:391474
Mosaic Trisomy 9
High palate, Cleft palate, Intestinal malrotation, Prominent occiput, Facial cleft, Microphthalmi... ORPHA:99776
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus, Aplasia/Hypoplasia involving the nose, Microtia, Optic atrophy, Iris coloboma, Sep... ORPHA:3301
Bardet-Biedl Syndrome 7
Depressed nasal bridge, Hypertelorism, Deeply set eye, Hypogonadism OMIM:615984
Craniosynostosis 4
Macrocephaly, Depressed nasal bridge, Optic nerve hypoplasia, Proptosis, Ectopic posterior pituit... OMIM:600775
Wilson-Turner Syndrome
Deeply set eye, Microtia, Broad nasal tip, Hypogonadotropic hypogonadism, Cryptorchidism ORPHA:3459
Desanto-Shinawi Syndrome
Sensorineural hearing impairment, Bulbous nose, Deeply set eye, Abnormal pinna morphology, Depres... OMIM:616708
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Microcephaly, Deeply set eye OMIM:300471
Radio-Tartaglia Syndrome
Large earlobe, Low-set ears, Bulbous nose, Prominent nasal tip, Precocious puberty, Deeply set ey... OMIM:619312
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Spina bifida occulta, Agenesis of c... OMIM:618736
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Low-set ears, Depressed nasal bridge, Short nose, Anteverted nares, Hypertelorism OMIM:614069
Warburg Micro Syndrome 4
Perisylvian polymicrogyria, Cerebral cortical atrophy, Deeply set eye, Decreased motor nerve cond... OMIM:615663
Nabais Sa-De Vries Syndrome, Type 1
Bulbous nose, Deeply set eye, Depressed nasal bridge, Optic nerve hypoplasia, Short nose, Primary... OMIM:618828
Nizon-Isidor Syndrome
Bulbous nose, Deeply set eye, Depressed nasal bridge, Hypoplasia of the corpus callosum, Iris col... OMIM:618872
Christianson Syndrome
Cerebral cortical atrophy, Deeply set eye, Microcephaly, Aplasia/Hypoplasia of the cerebellum, De... ORPHA:85278
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
High palate, Tooth agenesis, Cleft palate, Microphthalmia, Midface retrusion ORPHA:1135
Sulfite Oxidase Deficiency, Isolated
Deeply set eye, Cerebral atrophy, Microcephaly, Cerebellar hypoplasia, Delayed eruption of teeth,... OMIM:272300
Craniosynostosis 6
Sensorineural hearing impairment, Microcephaly, Spina bifida occulta, Hypertelorism, Agenesis of ... OMIM:616602
X-Linked Intellectual Disability, Schimke Type
Cerebral cortical atrophy, Deeply set eye, Narrow nasal bridge, Hearing impairment, Secondary mic... ORPHA:85285
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Macrocephaly, Short nose, Deeply set eye ORPHA:2429
Combined Oxidative Phosphorylation Deficiency 2
Neonatal death, Low-set ears, Agenesis of corpus callosum OMIM:610498
Septo-Optic Dysplasia Spectrum
Sensorineural hearing impairment, Absent septum pellucidum, Optic nerve hypoplasia, Abnormality o... ORPHA:3157
Even-Plus Syndrome
Dysplastic corpus callosum, Depressed nasal ridge, Microtia, Bifid nasal tip, Short nose, Agenesi... OMIM:616854
Pituitary Carcinoma
Pituitary growth hormone cell adenoma, Enlarged pituitary gland, Elevated circulating growth horm... ORPHA:300385
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Protruding ear, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Cerebellar vermis... OMIM:616819
Borjeson-Forssman-Lehmann Syndrome
Deeply set eye, Microcephaly, Delayed puberty, Macrotia, Cryptorchidism OMIM:301900
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
8P23.1 Duplication Syndrome
Adrenal insufficiency, Deeply set eye, Hypertelorism, Wide nose, Hearing impairment ORPHA:251076
Temtamy Syndrome
Low-set ears, Convex nasal ridge, Iris coloboma, Hypertelorism, Agenesis of corpus callosum, Lop ... OMIM:218340
Pseudotrisomy 13 Syndrome
Low-set ears, Hydrocephalus, Hypotelorism, Cryptorchidism, Holoprosencephaly, Microcephaly, Cereb... OMIM:264480
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:613038
Pituitary Stalk Interruption Syndrome
Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Adrenal hypoplasia, Ectopic poste... ORPHA:95496
Microgastria-Limb Reduction Defects Association
Cryptorchidism, Fusion of the left and right thalami, Arrhinencephaly, Polymicrogyria, Anophthalm... OMIM:156810
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypoplasia of the corpus callosum, Polymicrogyria, Optic disc pallor, Proptosis, Simplified gyral... ORPHA:468631
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Sensorineural hearing impairment, Protruding ear, Deeply set eye, Persistence of primary teeth, M... OMIM:618342
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Thick corpus callosum, Sensorineural hearing impairment, Bulbous nose, Dysplastic corpus callosum... ORPHA:544488
Ritscher-Schinzel Syndrome 4
Deeply set eye, Hypertelorism, Hypotelorism, Wide nasal bridge, Cerebellar hypoplasia, Proptosis,... OMIM:619435
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
Microcephaly, Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Primary microcepha... ORPHA:466688
Cortical Blindness, Retardation, And Postaxial Polydactyly
Short nose OMIM:218010
Hyperphosphatasia With Mental Retardation Syndrome 6
Large earlobe, Deeply set eye, Thickened ears, Depressed nasal bridge, Death in childhood, Death ... OMIM:616809
Charge Syndrome
Overfolded helix, Depressed nasal bridge, Delayed eruption of teeth, Aplasia/Hypoplasia of the ce... ORPHA:138
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Low-set ears, Cerebral cortical atrophy, Deeply set eye, Thin corpus callosum, Macrocephaly, Depr... OMIM:619720
Fanconi Anemia, Complementation Group I
Conductive hearing impairment, Decreased response to growth hormone stimulation test, Absent sept... OMIM:609053
Amish Lethal Microcephaly
Microcephaly, Optic atrophy, Cerebellar vermis hypoplasia, Lissencephaly, Death in infancy, Spina... ORPHA:99742
Marden-Walker Syndrome
Low-set ears, Hypertelorism, Microcephaly, Cerebellar hypoplasia, Inferior cerebellar vermis hypo... OMIM:248700
Weiss-Kruszka Syndrome
Horizontal crus of helix, Protruding ear, Microtia, Overfolded helix, Cupped ear, Hypoplasia of t... OMIM:618619
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inapprop... OMIM:300888
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bulbous nose, Deeply set eye, Depressed nasal bridge, Cerebellar hypoplasia, Hypoplasia of the co... ORPHA:284169
Cat-Eye Syndrome
Iris coloboma, Chorioretinal coloboma, Microphthalmia ORPHA:195
Cerebrooculofacioskeletal Syndrome 2
Deeply set eye, Convex nasal ridge, Microcephaly, Death in childhood, Microphthalmia, Hearing imp... OMIM:610756
Chromosome 13Q14 Deletion Syndrome
Low-set ears, Bulbous nose, Hypotelorism, Supernumerary nipple, Holoprosencephaly, Absent septum ... OMIM:613884
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Low-set ears, Hydrocephalus, Relative macrocephaly, Depressed nasal bridge, Mild hearing impairme... ORPHA:459061
Congenital Disorder Of Glycosylation, Type Iy
Microcephaly, Deeply set eye, Hypoplasia of the corpus callosum, Macrotia OMIM:300934
4Q21 Microdeletion Syndrome
Low-set ears, Depressed nasal bridge, Cerebellar hypoplasia, Hearing impairment, Hypertelorism, A... ORPHA:238750
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Bulbous nose, Depressed nasal bridge, Microcephaly, Hypoplasia of the corpus callosum, Short nose... OMIM:614105
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Deeply set eye, Broad nasal tip, Depressed nasal bridge, Microcephaly, Anteverted nares, Pseudohy... OMIM:617157
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Partial agenesis of the corpus callosum, Optic atrophy, Microcephaly, Hypertelorism OMIM:245349
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Short nose, Low-set, posteriorly rotated ears ORPHA:2015
Myopia 27, Autosomal Dominant
Increased axial length of the globe OMIM:618827
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Hydrocephalus, Cataract, Microphthalmia OMIM:615181
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Microcephaly, Hypoplasia of the corpus callosum, Abnormal globus pallidus morphology, Hypertelori... OMIM:618603
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, Optic nerve hypoplasia, Unilateral microphthalmos, Optic disc hypoplasia, Aplasi... ORPHA:137902
Absent Eyebrows And Eyelashes With Mental Retardation
Microcephaly, Short nose, Convex nasal ridge, Encephalocele OMIM:200130
Gand Syndrome
Broad nasal tip, Hypertelorism, Deeply set eye, Wide nasal bridge OMIM:615074
Hartsfield Syndrome
Low-set ears, Hypotelorism, Hypertelorism, Microcephaly, Wide nose, Posteriorly rotated ears, Gon... OMIM:615465
Van Der Woude Syndrome 1
Cleft upper lip, Hypodontia, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Freeman-Sheldon Syndrome
Deeply set eye, Hypertelorism, Depressed nasal ridge, Hearing impairment, Cryptorchidism, Underde... ORPHA:2053
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Protruding ear, Microcephaly, Hypoplasia of the corpus callosum, Optic atrophy, Short nose, Death... ORPHA:1495
Emanuel Syndrome
Low-set ears, Hydrocephalus, Deeply set eye, Severe hearing impairment, Cerebral atrophy, Low han... ORPHA:96170
Developmental Delay With Or Without Dysmorphic Facies And Autism
Bulbous nose, Depressed nasal bridge, Hypoplasia of the corpus callosum, Polymicrogyria, Short no... OMIM:618454
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Low-set ears, Deeply set eye, Convex nasal ridge, Decreased response to growth hormone stimulatio... OMIM:241410
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Hydranencephaly, Agenesis of corpus callosum,... OMIM:225790
Chromosome Xq27.3-Q28 Duplication Syndrome
Bulbous nose, Deeply set eye, Decreased serum testosterone concentration, Cryptorchidism, Decreas... OMIM:300869
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Anophthalmia, Microcornea, Cataract, Microphthalmia, Sclerocornea OMIM:615877
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism OMIM:301033
Intellectual Developmental Disorder, Autosomal Recessive 45
Bulbous nose, Deeply set eye, Anteverted nares, Hypertelorism, Wide nasal bridge OMIM:615979
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Macrocephaly, Deeply set eye, Frontal cortical atrophy OMIM:300699
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Bulbous nose, Deeply set eye, Microcephaly, Macrotia, Hypertelorism, Wide nasal bridge ORPHA:261304
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Low-set ears, Deeply set eye, Decreased response to growth hormone stimulation test, Hypergonadot... OMIM:300845
17P13.3 Microduplication Syndrome
Hypertelorism, Hypoplasia of the corpus callosum, Wide nose, Short nose, Low-set ears ORPHA:217385
Cerebrooculofacioskeletal Syndrome 4
Deeply set eye, Microcephaly, Death in childhood, Cerebellar hypoplasia, Polymicrogyria, Low-set,... OMIM:610758
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hydrocephalus, Hypoplasia of the corpus callosum, Polymicrogyria, Optic atrophy, Agyria, Micropht... OMIM:236670
Neurooculocardiogenitourinary Syndrome
Sensorineural hearing impairment, Low-set ears, Hypertelorism, Coloboma, Microphthalmia, Bilatera... OMIM:618652
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Sensorineural hearing impairment, Low-set ears, Deeply set eye, Hypoplasia of the corpus callosum... ORPHA:423479
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Low-set ears, Conductive hearing impairment, Cryptorchidism, Depressed nasal bridge, Microcephaly... OMIM:616910
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Deeply set eye, Periventricular white matter hyperintensities, Postnatal macrocephaly, Microtia OMIM:618158
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Sensorineural hearing impairment, Deeply set eye, Cerebral atrophy, Microcephaly, Hypoplasia of t... ORPHA:464282
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Low-set ears, Bulbous nose, Overfolded helix, Small cerebral cortex, Periventricular leukomalacia... OMIM:617360
Lissencephaly 8
Microcephaly, Cerebellar hypoplasia, Polymicrogyria, Hypoplasia of the corpus callosum, Optic atr... OMIM:617255
Thomas Syndrome
Dolichocephaly, Cleft palate, Cleft upper lip ORPHA:3316
Trichothiodystrophy 4, Nonphotosensitive
Cerebral cortical atrophy, Microcephaly, Macrotia, Partial agenesis of the corpus callosum, Optic... OMIM:234050
Growth Hormone Deficiency, Isolated Partial
Decreased response to growth hormone stimulation test, Small pituitary gland OMIM:615925
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Microtia, Anotia, Bifid nose, Atresia of the external auditory canal, Hearing impa... ORPHA:268249
Rhombencephalosynapsis
Hydrocephalus, Macrocephaly, Fusion of the left and right thalami, Low-set, posteriorly rotated e... ORPHA:59315
Cockayne Syndrome Type 2
Anophthalmia, Subcortical white matter calcifications, Male hypogonadism, Cryptorchidism, Delayed... ORPHA:90322
Amoebiasis Due To Free-Living Amoebae
Abnormal basal ganglia morphology, Abnormal hypothalamus morphology, Hyposmia, Abnormality of the... ORPHA:68
Spinocerebellar Ataxia 23
Agenesis of corpus callosum OMIM:610245
1Q41Q42 Microdeletion Syndrome
Deeply set eye, Hypotelorism, Holoprosencephaly, Hypergonadotropic hypogonadism, Broad nasal tip,... ORPHA:250999
6P22 Microdeletion Syndrome
Hydrocephalus, Deeply set eye, Hypotelorism, Overfolded helix, Hearing impairment, Low-set ears ORPHA:251046
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Sensorineural hearing impairment, Abnormal pinna morphology, Macrocephaly, Cupped ear, Optic disc... ORPHA:52055
Rhyns Syndrome
Hearing impairment, Hypopituitarism, Deeply set eye ORPHA:140976
Kapur-Toriello Syndrome
Low-set ears, Bulbous nose, Dysplastic corpus callosum, Retinal coloboma, Polymicrogyria, Atresia... ORPHA:2328
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Decreased thalamic volume, Cerebral cortical atrophy, Microcephaly, Cerebellar hypoplasia, Hypopl... OMIM:619072
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Microphthalmia ORPHA:363741
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal antihelix morphology, Bulbous nose, Protruding ear, Depressed nasal bridge, Microcephaly... ORPHA:261144
Intellectual Developmental Disorder, Autosomal Dominant 22
Low-set ears, Abnormal pinna morphology, Long nose, Depressed nasal bridge, Microcephaly, Hyperte... OMIM:612337
Smith-Magenis Syndrome
Conductive hearing impairment, Precocious puberty, Deeply set eye, Depressed nasal bridge, Microc... ORPHA:819
Fumarase Deficiency
Relative macrocephaly, Cerebral atrophy, Depressed nasal bridge, Open operculum, Microcephaly, Po... OMIM:606812
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Short nose, Macrocephaly, Hypertelorism OMIM:613670
Vici Syndrome
Sensorineural hearing impairment, Cerebral cortical atrophy, Hypotelorism, Depressed nasal tip, H... ORPHA:1493
Familial Congenital Mirror Movements
Morphological abnormality of the corticospinal tract, Hypogonadotropic hypogonadism, Agenesis of ... ORPHA:238722
Intellectual Developmental Disorder, Autosomal Dominant 52
Sensorineural hearing impairment, Low-set ears, Deeply set eye, Hypertelorism, Cryptorchidism, Ma... OMIM:617796
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Low-set ears, Bulbous nose, Protruding ear, Overfolded helix, Hypoplasia of the corpus callosum, ... ORPHA:481152
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Lissencephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:619466
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Hypoplasia of the corpus callosum, Abnormal location of ears, Cryptorchidism, Agen... OMIM:218350
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Sensorineural hearing impairment, Low-set ears, Deeply set eye, Microcephaly, Hypoplasia of the c... OMIM:615966
Non-Syndromic Bicoronal Craniosynostosis
Brachycephaly, Midface retrusion ORPHA:35099
Apert Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Hydrocephalus, Convex nasal ridg... ORPHA:87
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Macrocephaly, Aqueductal stenosis, Absent septum pellucidum, Corticospinal tract h... OMIM:307000
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Agenesis of corpus callosum OMIM:614120
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia OMIM:601349
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Microphthalmia, Cryptorchidism ORPHA:2470
Linear Skin Defects With Multiple Congenital Anomalies 2
Microcephaly, Hypoplasia of the corpus callosum, Optic disc pallor, Short nose, Hypertelorism, Po... OMIM:300887
Autosomal Recessive Primary Microcephaly
Microcephaly, Pachygyria, Agenesis of corpus callosum, Hypoplasia of the frontal lobes ORPHA:2512
Congenital Disorder Of Glycosylation, Type Iu
Hypotelorism, Cerebellar hypoplasia, Optic atrophy, Cerebral white matter atrophy, Short nose, De... OMIM:615042
Spastic Paraplegia 11, Autosomal Recessive
Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Degeneration of the lateral cortico... OMIM:604360
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Sensorineural hearing impairment, Low-set ears, Macrocephaly, Cupped ear, Mixed hearing impairmen... OMIM:300472
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus, Cryptorchidism, Low-set, posteriorly rotated ears, Hearing impairment, Short nose,... ORPHA:2701
Meckel Syndrome
Hydrocephalus, Hypertelorism, Cryptorchidism, Depressed nasal ridge, Pancreatic fibrosis, Microce... ORPHA:564
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
3Mc Syndrome 3
Cleft upper lip, Facial cleft, Cleft palate OMIM:248340
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Protruding ear, Abnormally large globe, Microcephaly, Optic atrophy, Cryptorchidism, Agenesis of ... OMIM:300004
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Kleefstra Syndrome 2
Plagiocephaly, Midface retrusion, Bifid uvula, Everted lower lip vermilion OMIM:617768
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus, Deeply set eye, Cerebral atrophy, Long nose, Depressed nasal bridge, Cerebellar hy... OMIM:618590
Beare-Stevenson Cutis Gyrata Syndrome
Hydrocephalus, Depressed nasal bridge, Low-set, posteriorly rotated ears, Optic atrophy, Proptosi... OMIM:123790
Desmosterolosis
Large earlobe, Low-set ears, Hydrocephalus, Macrocephaly, Absent septum pellucidum, Macrogyria, D... ORPHA:35107
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Basal ganglia cysts, Anteverted nares, Low-set ears, Posteriorly rotated ears, Agenesis of corpus... OMIM:613623
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Low-set ears, Prominent nasal tip, Cerebral atrophy, Cavum septum pellucidum, Dil... ORPHA:464738
Genitopatellar Syndrome
Low-set ears, Hypertelorism, Microcephaly, Delayed eruption of teeth, Hearing impairment, Wide no... ORPHA:85201
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Coloboma, Microphthalmia OMIM:617306
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Low-set ears, Deeply set eye, Hypertelorism, Macrocephaly, Depressed nasal bridge, Anteverted nar... OMIM:618316
Coffin-Siris Syndrome 11
Uplifted earlobe, Bulbous nose, Depressed nasal bridge, Hypertelorism, Agenesis of corpus callosum OMIM:618779
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Depressed nasal bridge, Periventricular leukomalacia, Microcephaly, Optic atrophy,... OMIM:619833
20Q11.2 Microdeletion Syndrome
Hearing impairment, Hypertelorism, Deeply set eye ORPHA:444051
Developmental And Epileptic Encephalopathy 75
Cerebral cortical atrophy, Frontal cortical atrophy, Hypoplasia of the corpus callosum, Optic atr... OMIM:618437
Chromosome 20Q11-Q12 Deletion Syndrome
Hearing impairment, Hypertelorism, Deeply set eye OMIM:614257
1Q44 Microdeletion Syndrome
Hydrocephalus, Microcephaly, Optic disc hypoplasia, Hypertelorism, Biparietal narrowing, Agenesis... ORPHA:238769
Braddock-Carey Syndrome 1
Microcephaly, Macrotia, Anteverted nares, Posteriorly rotated ears, Agenesis of corpus callosum, ... OMIM:619980
Intellectual Developmental Disorder, Autosomal Dominant 2
Deeply set eye, Cholesteatoma OMIM:614113
Clark-Baraitser Syndrome
Large earlobe, Low-set ears, Low hanging columella, Depressed nasal bridge, Microcephaly, Short n... OMIM:617752
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased response to growth hormone stimulation test, Hypoplasia of the corpus callosum, Ectopic... ORPHA:67045
Developmental Delay With Variable Neurologic And Brain Abnormalities
Thin corpus callosum, Microcephaly, Macrotia, Wide nose, Microphthalmia, Anteverted nares OMIM:619694
Mosaic Variegated Aneuploidy Syndrome 1