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Gene: Hesx1 MGI:96071

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	Allele	Zyg	Life Stage
abnormal facial morphology	Hesx1^em1(IMPC)J	HOM	E18.5
abnormal head shape	Hesx1^em1(IMPC)J	HOM	E18.5
anophthalmia	Hesx1^em1(IMPC)J	HOM	E18.5
cleft palate	Hesx1^em1(IMPC)J	HOM	E18.5
preweaning lethality, complete penetrance	Hesx1^em1(IMPC)J	HOM	Early adult
facial cleft	Hesx1^em1(IMPC)J	HOM	E18.5

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lacZ Expression

Expression data not available

Associated Images

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

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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X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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Electroretinography 3

Fundus file

1 Images

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X-ray

XRay Images Forepaw

8 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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X-ray

XRay Images Skull Lateral Orientation

8 Images

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MicroCT E18.5

Embryo reconstruction

11 Images

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X-ray

XRay Images Whole Body Dorso Ventral

8 Images

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Gross Morphology Placenta E18.5

Images

2 Images

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Auditory Brain Stem Response

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

8 Images

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Electrocardiogram (ECG)

Waveform Image

15 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.

Human diseases associated with Hesx1 (6 diseases)
Human diseases predicted to be associated with Hesx1 (1537 diseases)

The table below shows human diseases associated to Hesx1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:95494
Septooptic Dysplasia	Optic disc hypoplasia, Optic nerve hypoplasia, Decreased response to growth hormone stimulation t...	OMIM:182230
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
Septo-Optic Dysplasia Spectrum	Septo-optic dysplasia, Diabetes insipidus, Optic nerve hypoplasia, Absent septum pellucidum, Ante...	ORPHA:3157
Pituitary Stalk Interruption Syndrome	Death in infancy, Septo-optic dysplasia, Ectopic posterior pituitary, Adrenal hypoplasia, Cryptor...	ORPHA:95496
Kallmann Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi...	ORPHA:478

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

Disease	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	Wide nose, Anteverted nares, Microcephaly, Microphthalmia, Macrotia, Thin corpus callosum	OMIM:619694
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Cerebellar vermis hypoplasia, Depressed nasal bridge, Microcephaly, Cerebral atrophy, Prominent a...	OMIM:615802
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Mixed hearing impairment, Prominent nasal bridge, Choanal atresia, Lop ear, Bilateral cryptorchid...	OMIM:300472
Basel-Vanagaite-Smirin-Yosef Syndrome	Anteverted nares, Uplifted earlobe, Microcephaly, Hypertelorism, Cerebral atrophy, Hypoplasia of ...	OMIM:616449
20Q11.2 Microdeletion Syndrome	Deeply set eye, Hearing impairment, Hypertelorism	ORPHA:444051
Chromosome 20Q11-Q12 Deletion Syndrome	Deeply set eye, Hearing impairment, Hypertelorism	OMIM:614257
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Failure of eruption of permanent teeth, Cryptorchidism, Single naris, Anosmia, Hypo...	ORPHA:2250
Glutathionuria	Agenesis of corpus callosum, Hypotelorism	OMIM:231950
Developmental And Epileptic Encephalopathy 75	Optic disc pallor, Anteverted nares, Hypertelorism, Optic atrophy, Wide nasal bridge, Proptosis, ...	OMIM:618437
Intellectual Developmental Disorder, Autosomal Dominant 2	Deeply set eye, Cholesteatoma	OMIM:614113
Spastic Paraplegia 11, Autosomal Recessive	Degeneration of the lateral corticospinal tracts, Hypoplasia of the corpus callosum, Abnormal per...	OMIM:604360
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Cerebellar vermis hypoplasia, Depressed nasal bridge, Posteriorly rotated ears, Long nose, Hydroc...	OMIM:618590
Nabais Sa-De Vries Syndrome, Type 2	Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Prominent nose, Hypertelorism, ...	OMIM:618829
Familial Congenital Mirror Movements	Abnormal corticospinal tract morphology, Agenesis of corpus callosum, Hypogonadotropic hypogonadism	ORPHA:238722
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Wide nose, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test,...	OMIM:300845
Craniofacial Dyssynostosis With Short Stature	Cryptorchidism, Hydrocephalus, Abnormal location of ears, Hypoplasia of the corpus callosum, Agen...	OMIM:218350
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Low-set, posteriorly rotated ears, Anteverted nares, Hypertelorism, Cryptorchidism, Hydrocephalus...	ORPHA:2701
Fg Syndrome 3	Relative macrocephaly, Death in infancy, Cryptorchidism, Sensorineural hearing impairment, Agenes...	OMIM:300406
Holoprosencephaly 14	Anteverted nares, Absent septum pellucidum, Proboscis, Alobar holoprosencephaly, Aqueductal steno...	OMIM:619895
Desmosterolosis	Low-set, posteriorly rotated ears, Depressed nasal bridge, Absent septum pellucidum, Abnormal cor...	ORPHA:35107
20P13 Microdeletion Syndrome	Posteriorly rotated ears, Prominent nasal bridge, Abnormal pinna morphology, Hypertelorism, Micro...	ORPHA:313781
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Posteriorly rotated ears, Hypertelorism, Long nose, Partial agenesis of the corpus callosum, Bulb...	OMIM:620113
Curry-Jones Syndrome	Hypertelorism, Optic disc coloboma, Microphthalmia, Agenesis of corpus callosum, Iris coloboma	ORPHA:1553
Verheij Syndrome	Branchial cyst, Anteverted nares, Optic nerve hypoplasia, Microcephaly, Broad nasal tip, Wide nas...	OMIM:615583
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Abnormally large globe, Microcephaly, Cryptorchidism, Optic atrophy, Protruding ear, Agenesis of ...	OMIM:300004
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Plagiocephaly, Flat occiput, Brachycephaly	ORPHA:2898
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Anteverted nares, Depressed nasal bridge, Underfolded helix, Prominent nose, Hypertelorism, Crypt...	OMIM:618316
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Optic nerve dysplasia, Cerebral atrophy, Deeply set eye,...	OMIM:617296
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp...	ORPHA:2182
Tubulinopathy-Associated Dysgyria	Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Macrocephaly, Abnormal thalam...	ORPHA:467166
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Deeply set eye, Prominent nasal bridge, Broad columella, Leukoencephalopathy	ORPHA:457365
1Q44 Microdeletion Syndrome	Optic disc hypoplasia, Microcephaly, Hypertelorism, Hydrocephalus, Biparietal narrowing, Agenesis...	ORPHA:238769
Holoprosencephaly-Caudal Dysgenesis Syndrome	Hypertelorism, Microcephaly, Proptosis, Holoprosencephaly, Low-set ears, Cyclopia, Abnormality of...	ORPHA:2165
Monosomy 18P	Microcephaly, Wide nasal bridge, Protruding ear, Abnormal antihelix morphology, Holoprosencephaly...	ORPHA:1598
Developmental And Epileptic Encephalopathy 108	Thin corpus callosum, Small pituitary gland	OMIM:620115
Bangstad Syndrome	Microcephaly, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Deeply ...	ORPHA:1227
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, Abnormal pinna morphology, Abno...	ORPHA:556955
Braddock-Carey Syndrome 1	Anteverted nares, Posteriorly rotated ears, Microcephaly, Wide nasal bridge, Macrotia, Agenesis o...	OMIM:619980
Kleefstra Syndrome 2	Plagiocephaly, Bifid uvula, Everted lower lip vermilion, Midface retrusion	OMIM:617768
Al-Raqad Syndrome	Deeply set eye, Short nose, Low-set ears, Microcephaly	OMIM:616459
Chromosome 6Pter-P24 Deletion Syndrome	Depressed nasal bridge, Posteriorly rotated ears, Hypertelorism, Hydrocephalus, Sensorineural hea...	OMIM:612582
Meckel Syndrome, Type 5	Microphthalmia, Occipital encephalocele, Anencephaly	OMIM:611561
Proboscis Lateralis	Anophthalmia, Optic nerve hypoplasia, Proboscis, Choanal atresia, Hypertelorism, Optic disc colob...	ORPHA:141099
Difference Of Sex Development-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Deeply set eye, Microtia, Hypogonadism, Severe sensorineural h...	ORPHA:2983
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Cleft palate, Plagiocephaly, Downturned corners of mouth, Ectopic anus, Short philtrum	ORPHA:94066
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cryptorchidism, Dysplastic corpus callosum	OMIM:620135
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Cerebellar vermis hypoplasia, Microcephaly, Sensorineural hearing impairment, Simplified gyral pa...	OMIM:615966
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Diabetes mellitus, Prominent nose, Microcephaly, Deeply set eye, Chorioretinal coloboma, Macrotia	OMIM:620194
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Hydrocephalus, Low-set ears, Short nose, Aplasia/Hypoplasia af...	ORPHA:1895
Genitopatellar Syndrome	Delayed eruption of teeth, Wide nose, Prominent nasal bridge, Prominent nose, Microcephaly, Crypt...	ORPHA:85201
Brain Malformations With Or Without Urinary Tract Defects	Anteverted nares, Overfolded helix, Hypoplasia of the corpus callosum, Macrocephaly, Low-set ears...	OMIM:613735
Fraser Syndrome 1	Cleft ala nasi, Anophthalmia, Abnormal thymus morphology, Choanal stenosis, Conductive hearing im...	OMIM:219000
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Cataract	OMIM:251270
Semilobar Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Proboscis, Microcephal...	ORPHA:220386
Alobar Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Proboscis, Microcephal...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Proboscis, Microcephal...	ORPHA:93926
Lobar Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Proboscis, Microcephal...	ORPHA:93924
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Microcephaly, Co...	OMIM:617260
Ring Chromosome 8 Syndrome	Short nose, Anteverted nares, Round ear	ORPHA:1450
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Short nose, Anteverted nares	ORPHA:1355
Intellectual Developmental Disorder, X-Linked 91	Short nose	OMIM:300577
Coasy Protein-Associated Neurodegeneration	Abnormal globus pallidus morphology, Abnormal caudate nucleus morphology, Eye of the tiger anomal...	ORPHA:397725
Joubert Syndrome 22	Microphthalmia, Coloboma	OMIM:615665
Inverted Duplicated Chromosome 15 Syndrome	Low-set, posteriorly rotated ears, Broad nasal tip, Precocious puberty, Cryptorchidism, Microceph...	ORPHA:3306
Rajab Interstitial Lung Disease With Brain Calcifications 2	Microcephaly, Periventricular cysts, Deeply set eye, Hypopituitarism, Hypothyroidism	OMIM:619013
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Low-set, posteriorly rotated ears, Adrenal hypoplasia, Microcephaly, Cryptorchidis...	ORPHA:2166
Coloboma Of Macula With Type B Brachydactyly	Coloboma	OMIM:120400
Congenital Toxoplasmosis	Cerebral calcification, Microcephaly, Hydrocephalus, Microphthalmia, Hearing impairment	ORPHA:858
Non-Distal Duplication 13Q	Microcephaly, Cryptorchidism, Aplasia/Hypoplasia of the earlobes, Hypotelorism, Abnormal antiheli...	ORPHA:1702
Chromosome 3Q29 Duplication Syndrome	Microcephaly, Abnormally large globe, Bulbous nose, Wide nasal bridge, Macrocephaly, Short nose	OMIM:611936
Kleefstra Syndrome Due To 9Q34 Microdeletion	Anteverted nares, Absent septum pellucidum, Microcephaly, Hypertelorism, Cryptorchidism, Subcorti...	ORPHA:96147
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia, Cleft palate, Facial cleft, Hypoplasia of the frontal bone	ORPHA:306542
Ring Chromosome 22 Syndrome	Absent septum pellucidum, Microcephaly, Bulbous nose, Wide nasal base, Macrotia, Agenesis of corp...	ORPHA:1446
Frank-Ter Haar Syndrome	Delayed eruption of teeth, Depressed nasal bridge, Hypertelorism, Wide nasal bridge, Protruding e...	ORPHA:137834
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Depressed nasal bridge, Hydrocephalus, Optic atrophy, Deeply set eye, Macrocephaly, Aplasia/Hypop...	ORPHA:60040
Encephalocraniocutaneous Lipomatosis	Cryptorchidism, Hydrocephalus, Cortical dysplasia, Porencephalic cyst, Hypoplasia of the iris, Ce...	OMIM:613001
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Prominent nose, Microcephaly, Abnormal cerebral white matter morphology, Deeply set eye, Hypoplas...	ORPHA:391307
Combined Oxidative Phosphorylation Deficiency 54	Dysplastic corpus callosum, Hypergonadotropic hypogonadism, Periventricular white matter hyperint...	OMIM:619737
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra...	OMIM:617914
Micro Syndrome	Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Anteverted nares, Microcephaly, ...	ORPHA:2510
Intellectual Developmental Disorder, Autosomal Recessive 65	Abnormal pinna morphology, Prominent nasal bridge, Supernumerary nipple, Cryptorchidism, Partial ...	OMIM:618109
Megalencephaly	Macroorchidism, Deeply set eye, Wide nasal bridge, Macrocephaly	ORPHA:2477
Mosaic Trisomy 8	Wide nose, Anteverted nares, Abnormal pinna morphology, Broad nasal tip, Hypertelorism, Cryptorch...	ORPHA:96061
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Optic nerve hypoplasia, Hearing impairment, Alobar holoprosencephaly, Micr...	OMIM:301043
Intellectual Developmental Disorder, Autosomal Dominant 47	Prominent nasal bridge, Supernumerary nipple, Microcephaly, Cryptorchidism, Cerebral atrophy, Dee...	OMIM:617635
Bartsocas-Papas Syndrome 2	Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium	OMIM:619339
Coffin-Siris Syndrome 11	Depressed nasal bridge, Uplifted earlobe, Hypertelorism, Bulbous nose, Agenesis of corpus callosum	OMIM:618779
Microphthalmia-Brain Atrophy Syndrome	Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Bilateral microphthalmos, Latera...	ORPHA:77299
Rhiny	Short nose, Anteverted nares	OMIM:180360
Microcephaly 26, Primary, Autosomal Dominant	Prominent nasal bridge, Microcephaly, Hypertelorism, Dysplastic corpus callosum, Simplified gyral...	OMIM:619179
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Anteverted nares, Depressed nasal bridge, Choanal atresia, Prominent nasal bridge, H...	OMIM:123790
Chopra-Amiel-Gordon Syndrome	Microcephaly, Flared nostrils, Deeply set eye, Macrocephaly, Thick nasal alae	OMIM:619504
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Death in infancy, Hydrocephalus, Depressed nasal ridge, Cerebellar hypoplasia, Low-set ears, Micr...	ORPHA:163966
Isolated Arrhinia	Microphthalmia, Facial cleft	ORPHA:1134
Hydrolethalus Syndrome 2	Anencephaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:614120
Camptodactyly Syndrome, Guadalajara Type 1	Attached earlobe, Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Sp...	ORPHA:1327
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Decreased thalamic volume, Abnormal basal ganglia morphology, Hypoplasia of the olfactory bulb	OMIM:618646
Luo-Schoch-Yamamoto Syndrome	Wide nose, Depressed nasal bridge, Anteverted nares, Abnormal pinna morphology, Hypertelorism, De...	OMIM:619460
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Hypertelorism, Microcephaly, Anteverted ears, Deeply set eye, Cerebellar hypoplasia, Short nose	OMIM:618087
Desmosterolosis	Relative macrocephaly, Hypoplastic nasal bridge, Anteverted nares, Posteriorly rotated ears, Micr...	OMIM:602398
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Death in infancy, Microcephaly, Hydrocephalus, Partial absence of cerebellar vermi...	OMIM:613150
1p36 microdeletion syndrome	Deeply set eye	DECIPHER:18
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus, Depressed nasal ridge, Low-set ears, Macrocephaly, Microphthalmia, Short nose	OMIM:300863
Parietal Foramina 1	Parietal foramina, Cleft palate, Cleft upper lip	OMIM:168500
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Decreased motor nerve conduction velocity, Slender nose, Microcephaly, Cryptorchidism, Optic atro...	OMIM:615419
Subependymal Nodular Heterotopia	Occipital encephalocele, Partial agenesis of the corpus callosum, Meningocele, Myelomeningocele, ...	ORPHA:101030
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Optic atrophy, Hypoplasi...	OMIM:253800
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip	OMIM:137215
Meckel Syndrome 12	Agenesis of cerebellar vermis, Anteverted nares, Microcephaly, Wide nasal bridge, Cerebellar hypo...	OMIM:616258
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Cerebral calcification, Hydrocephalus, Bulbous nose, Optic atrophy, Cerebellar hypoplasia, Macroc...	OMIM:618476
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Wide nose, Anteverted nares, Hypertelorism, Deeply set eye, Microtia, Low-set ears, Macrocephaly,...	OMIM:619056
Silent Sinus Syndrome	Deeply set eye	ORPHA:71276
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Hypogonadotropic hypogonadism, Optic atrophy, Abnormal basal ganglia m...	ORPHA:447896
Miller-Dieker Syndrome	Anteverted nares, Lissencephaly, Hypoplasia of the corpus callosum, Short nose, Cerebral cortical...	ORPHA:531
Mitochondrial Myopathy And Sideroblastic Anemia	Short nose, Delayed puberty, Microcephaly	ORPHA:2598
Vacterl With Hydrocephalus	Anophthalmia, Spina bifida, Aqueductal stenosis, Hydrocephalus, Microcornea, Microphthalmia	ORPHA:3412
Amyotrophy, Hereditary Neuralgic	Depressed nasal bridge, Hypotelorism, Deeply set eye, Brachial plexus neuropathy, Low-set ears, L...	OMIM:162100
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Deeply set eye	OMIM:619058
2q37 monosomy	Deeply set eye	DECIPHER:44
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome	Prominent nasal bridge, Microcephaly, Cryptorchidism, Deeply set eye, Low-set ears	ORPHA:502434
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Anteverted nares, Depressed nasal bridge, Abnormal pinna morphology, Microcephaly, Hypertelorism,...	OMIM:217980
Satb2-Associated Syndrome Due To A Pathogenic Variant	Abnormal cerebral white matter morphology, Abnormality of globe location, Deeply set eye	ORPHA:576283
Lowry-Maclean Syndrome	Choanal atresia, Delayed eruption of primary teeth, Microcephaly, Bilateral cryptorchidism, Hydro...	ORPHA:2409
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Depressed nasal bridge, Decreased response to growth hormone stimulation test, Underdeveloped nas...	OMIM:616007
Burn-Mckeown Syndrome	Prominent nasal bridge, Hypertelorism, Wide nasal bridge, Short nose, Bilateral choanal atresia	ORPHA:1200
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Microcephaly, Anosmia, Hypogonadism, Short nose, Short nasal septum, Hear...	OMIM:302950
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Caudate atrophy, Basal ganglia calcification, T2 hypointense thalamus, Leukoencephalopathy, Hypop...	OMIM:618193
Oculogastrointestinal Neurodevelopmental Syndrome	Coloboma, Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Frontal bossing, Thin upper lip vermilion, Craniosynostosis, Pyloric stenosis, Brachycephaly, Hig...	ORPHA:314575
Prader-Willi Syndrome Due To Translocation	Narrow nasal bridge, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulat...	ORPHA:177907
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microcornea, Microphthalmia, Cataract	ORPHA:48431
Cerebrofacioarticular Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Bilateral choanal atresia/stenosis, Dysplastic corpus...	ORPHA:314679
Rodrigues Blindness	Microcornea, Microphthalmia, Sclerocornea	OMIM:268320
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti...	ORPHA:231720
Bohring-Opitz Syndrome	Anteverted nares, Depressed nasal bridge, Supernumerary nipple, Microcephaly, Hypertelorism, Post...	OMIM:605039
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly,...	OMIM:225790
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, Deeply set eye, Delayed puberty, Short nose	ORPHA:496790
Craniosynostosis 3	Partial agenesis of the corpus callosum	OMIM:615314
10Q22.3Q23.3 Microduplication Syndrome	Hypotelorism, Deeply set eye, Low-set ears, Microcephaly	ORPHA:276422
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Low-set, posteriorly rotated ears, Short nose, Proptosis	ORPHA:2370
Developmental Delay With Or Without Dysmorphic Facies And Autism	Cerebellar vermis hypoplasia, Hypotelorism, Deeply set eye, Anteverted nares, Depressed nasal bri...	OMIM:618454
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Sanjad-Sakati Syndrome	Hypoparathyroidism, Low-set, posteriorly rotated ears, Depressed nasal bridge, Microcephaly, Exte...	ORPHA:2323
Congenital Disorder Of Glycosylation, Type 2V	Underdeveloped nasal alae, Hypertelorism, Bulbous nose, Wide nasal bridge, Protruding ear, Hydroc...	OMIM:619493
Heart And Brain Malformation Syndrome	Attached earlobe, Cerebellar vermis hypoplasia, Anteverted nares, Depressed nasal bridge, Posteri...	OMIM:616920
Stevenson-Carey Syndrome	Anteverted nares, Posteriorly rotated ears, Underdeveloped nasal alae, Coloboma, Cerebellar hypop...	OMIM:611961
Joubert Syndrome 23	Dysplastic corpus callosum	OMIM:616490
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Chorioretinal ...	OMIM:120200
Focal Dermal Hypoplasia	Cleft ala nasi, Anophthalmia, Chorioretinal coloboma, Spina bifida occulta, Agenesis of corpus ca...	OMIM:305600
Monosomy 13Q34	Posteriorly rotated ears, Epistaxis, Prominent nasal bridge, Broad nasal tip, Prominent nose, Mic...	ORPHA:96168
Congenital Disorder Of Glycosylation, Type Iq	Cerebellar vermis hypoplasia, Depressed nasal bridge, Hypertelorism, Optic atrophy, Coloboma, Low...	OMIM:612379
Pelvis-Shoulder Dysplasia	Microphthalmia, Spina bifida occulta, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
3C Syndrome	Death in infancy, Depressed nasal bridge, Adrenal hypoplasia, Hypertelorism, Hydrocephalus, Optic...	ORPHA:7
Chromosome 2Q37 Deletion Syndrome	Wide nose, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Sensorineural hearing impai...	OMIM:600430
Acrocephalopolydactyly	Short nose, Microtia, Depressed nasal ridge, Hypertelorism	ORPHA:221054
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Optic disc pallor, Optic nerve hypoplasia, Prominent nasal bridge, Microcephaly, Hypoplasia of th...	OMIM:300749
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome	Deeply set eye, Microcephaly	ORPHA:85280
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of...	ORPHA:199306
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Posteriorly rotated ears, Narrow nasal ridge, Microcephaly, Aqueductal stenosis, Hypoplasia of th...	OMIM:619512
Richieri-Costa/Guion-Almeida Syndrome	Microcephaly, Hypotelorism, Deeply set eye, Spina bifida occulta, Iris coloboma, Hearing impairment	OMIM:268850
Aicardi Syndrome	Cerebellar vermis hypoplasia, Anteverted nares, Spina bifida, Microcephaly, Dilated third ventric...	OMIM:304050
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Anophthalmia, Hypertelorism, Sensorineural hearing impair...	OMIM:615636
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Hearing impairment, Long nose, Dysplastic corpus callosum, Mild microcephaly, Deeply set eye, Low...	ORPHA:363444
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy	Diffuse cerebral atrophy, Secondary microcephaly, Decreased thalamic volume, Hypoplasia of the br...	OMIM:613668
Joubert Syndrome 38	Decreased serum insulin-like growth factor 1, Cerebellar vermis hypoplasia, Ectopic posterior pit...	OMIM:619476
Trisomy 9P	Hypertelorism, Abnormal nasal morphology, Microcephaly, Impacted tooth, Protruding ear, Deeply se...	ORPHA:236
Chromosome 6Q24-Q25 Deletion Syndrome	Probst bundles, Anteverted nares, Hydrocephalus, Cupped ear, Lateral ventricle dilatation, Low-se...	OMIM:612863
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Glycogen Storage Disease Iii	Deeply set eye, Depressed nasal bridge, Broad nasal tip	OMIM:232400
Mosaic Variegated Aneuploidy Syndrome 2	Depressed nasal bridge, Decreased response to growth hormone stimulation test, Microcephaly, Bulb...	OMIM:614114
Ssr4-Cdg	Absent septum pellucidum, Microcephaly, Deeply set eye, Hypoplasia of the corpus callosum, Abnorm...	ORPHA:370927
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Posteriorly rotated ears, Optic nerve hypoplasia, Microcephaly, Hypertelorism, Cryptorchidism, La...	OMIM:301056
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Anophthalmia, Dolichocephaly, High, narrow palate, Plagiocephaly, Long philtrum, Aniridia	ORPHA:1101
Culler-Jones Syndrome	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cryptorchidism, Hypotelorism, Hypogon...	OMIM:615849
Pyruvate Dehydrogenase E1-Beta Deficiency	Periventricular cysts, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypoplasia of the corp...	ORPHA:255138
Bilateral Perisylvian Polymicrogyria	Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Choanal atresia, Microcephaly, Perisyl...	ORPHA:98889
Linear Skin Defects With Multiple Congenital Anomalies 3	Delayed eruption of primary teeth, Thyroid C cell hyperplasia, Lateral ventricle dilatation, Micr...	OMIM:300952
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Wide nose, Diabetes mellitus, Anteverted nares, Microcephaly, Sensorineural hearing impairment, H...	ORPHA:391408
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Microphthalmia	OMIM:611134
Amish Lethal Microcephaly	Death in infancy, Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Optic atrophy, Lissen...	ORPHA:99742
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Deeply set eye, Microtia, Horner syndrome	OMIM:141300
Intellectual Developmental Disorder, X-Linked 108	Deeply set eye	OMIM:301024
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures	Plagiocephaly, Frontal bossing, Dental crowding	OMIM:619264
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Agenesis of corpus callosum	OMIM:207950
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Hypointensity of cerebral white matter on MRI, Depressed nasal bridge, Hypertelorism, Deeply set ...	OMIM:300860
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Mild microcephaly	ORPHA:453521
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Depressed nasal bridge, Focal polymicrogyria, Microcephaly, Cryptorchidism, Dysplastic corpus cal...	OMIM:619103
Arthrogryposis, Distal, Type 2A	Abnormal auditory evoked potentials, Microcephaly, Underdeveloped nasal alae, Cryptorchidism, Wid...	OMIM:193700
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Depressed nasal bridge, Decreased response to growth hormone stimulation test, Adrenal hypoplasia...	OMIM:614732
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Hypoplasia of the pons, Partial agenesis of the corpus callosum, Hypoplasia of the optic tract, O...	ORPHA:500144
Sotos Syndrome	Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Broad nasal tip, Hyperteloris...	OMIM:117550
Leukodystrophy, Hypomyelinating, 10	Anteverted nares, Reduced cerebral white matter volume, Bulbous nose, Cerebral atrophy, Hypoplasi...	OMIM:616420
Pai Syndrome	Encephalocele, Nasal polyposis, Depressed nasal bridge, Hypertelorism, Aplasia/Hypoplasia of the ...	ORPHA:1993
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Posteriorly rotated ears, Broad nasal tip, Hypertelorism, Porenceph...	OMIM:277170
Oculopalatocerebral Syndrome	Microphthalmia, Leukocoria	OMIM:257910
Jacobsen Syndrome	Anteverted nares, Depressed nasal bridge, Microcephaly, Hypertelorism, Cryptorchidism, Hydrocepha...	OMIM:147791
Craniosynostosis 2	Frontal bossing, Turricephaly, Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supern...	OMIM:604757
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Anteverted nares, Decreased response to growth hormone stimulation tes...	OMIM:615866
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Depressed nasal bridge, Microcephaly, Cerebral atrophy, Progressive microcephaly, Bi...	OMIM:617802
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Narrow nasal bridge, Prominent nasal bridge, Long nose, Low-set ears, Macrocephaly, Macroorchidis...	OMIM:309520
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Anophthalmia, Delayed eruption of primary teeth, Basal gangl...	ORPHA:90321
Nance-Horan Syndrome	Microcornea, Microphthalmia, Cataract	ORPHA:627
8P Inverted Duplication/Deletion Syndrome	Anteverted nares, Hypertelorism, Precocious puberty, Cryptorchidism, Abnormality of dental erupti...	ORPHA:96092
Charge Syndrome	Anophthalmia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Par...	OMIM:214800
Insulin-Like Growth Factor I, Resistance To	Rieger anomaly, Diabetes mellitus, Microcephaly, Wide nasal bridge, Increased circulating insulin...	OMIM:270450
Alkuraya-Kucinskas Syndrome	Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Hypertelorism, Hydrocephalus,...	OMIM:617822
Severe X-Linked Intellectual Disability, Gustavson Type	Abnormal pinna morphology, Microcephaly, Recurrent upper respiratory tract infections, Optic atro...	ORPHA:3078
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Depressed nasal bridge, Optic nerve hypoplasia, Broad nasal tip, Hypertelorism, Abnormal cerebral...	ORPHA:363686
Lenz-Majewski Hyperostotic Dwarfism	Relative macrocephaly, Anterior pituitary hypoplasia, Choanal atresia, Microcephaly, Hyperteloris...	OMIM:151050
19P13.13 Microdeletion Syndrome	Anteverted nares, Optic nerve hypoplasia, Depressed nasal bridge, Hypertelorism, Corpus callosum ...	ORPHA:357001
Joubert Syndrome 18	Occipital encephalocele, Agenesis of cerebellar vermis, Agenesis of corpus callosum	OMIM:614815
Pallister-Hall Syndrome	Thyroid dysgenesis, Natal tooth, Decreased circulating cortisol level, Anteverted nares, Decrease...	OMIM:146510
Microphthalmia With Linear Skin Defects Syndrome	Wide nose, Anophthalmia, Absent septum pellucidum, Microcephaly, Hydrocephalus, Wide nasal bridge...	ORPHA:2556
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Cerebellar vermis hypoplasia, Optic disc hypoplasia, Hypertelorism, Wide nasal bridge, Depressed ...	OMIM:619306
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Opacification of the ...	OMIM:310600
Cebalid Syndrome	Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Hypertelorism, Abnormal pinna...	OMIM:618774
Opitz Gbbb Syndrome	Abnormal nasopharynx morphology, Cerebellar vermis hypoplasia, Anteverted nares, Posteriorly rota...	OMIM:300000
Horner Syndrome, Congenital	Congenital Horner syndrome, Deeply set eye	OMIM:143000
Basilicata-Akhtar Syndrome	Anteverted nares, Wide nasal ridge, Abnormal pinna morphology, Precocious puberty, Deeply set eye...	OMIM:301032
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum	OMIM:614111
Orofaciodigital Syndrome I	Abnormal cortical gyration, Microcephaly, Pancreatic cysts, Underdeveloped nasal alae, Myelomenin...	OMIM:311200
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Microcornea, Buphthalmos, Posterior synech...	OMIM:221900
Genitourinary And/Or Brain Malformation Syndrome	Aplasia of the nasal bone, Streak ovary, Absent septum pellucidum, Hypertelorism, Dysplastic corp...	OMIM:618820
Smith-Kingsmore Syndrome	Depressed nasal bridge, Reduced cerebral white matter volume, Megalencephaly, Hypertelorism, Cryp...	OMIM:616638
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Hypogonadotropic hypogonadism, Microcephaly, Central adrenal insufficiency, Small pituitary gland...	OMIM:612079
Microcephaly 13, Primary, Autosomal Recessive	Microcephaly, Prominent nose, Partial agenesis of the corpus callosum, Simplified gyral pattern, ...	OMIM:616051
Microphthalmia, Syndromic 2	Anophthalmia, Anteverted ears, Hypothyroidism, Iris coloboma, Dandy-Walker malformation, Persiste...	OMIM:300166
Harel-Yoon Syndrome	Deeply set eye, Short nose, Optic atrophy	OMIM:617183
Rere-Related Neurodevelopmental Syndrome	Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Anteverted nares, Choanal atresi...	ORPHA:494344
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Depressed nasal bridge, Posteriorly rotated ears, Bulbous nose, Deeply set eye, Low-set ears, Mac...	OMIM:618430
Nasopalpebral Lipoma-Coloboma Syndrome	Depressed nasal bridge, Hypertelorism, Cupped ear, Wide nasal bridge, Coloboma, Low-set ears, Mic...	OMIM:167730
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Uplifted earlobe, Cortical dysplasia, Prot...	OMIM:613406
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Diabetes mellitus, Broad nasal tip, Hypertelorism, Recurrent upper respiratory tract infections, ...	ORPHA:391372
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Anteverted nares, Depressed nasal bridge, Abnormal nasal morphology, Cryptorchidism, Wide nasal b...	ORPHA:404440
Gomez-Lopez-Hernandez Syndrome	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Anteverted nares, Decreased response...	OMIM:601853
X-Linked Lissencephaly With Abnormal Genitalia	Death in infancy, Aganglionic megacolon, Microcephaly, Cryptorchidism, Pachygyria, Agenesis of co...	ORPHA:452
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nose, Microcephaly, Hypertelorism, Abnormality of cartilage of external ear, Recurrent upper...	ORPHA:2399
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Tented upper lip vermilion, Brachycephaly, Long philtrum	OMIM:619972
Kleefstra Syndrome	Delayed eruption of teeth, Anteverted nares, Thickened helices, Supernumerary nipple, Microcephal...	ORPHA:261494
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Distal Xq28 Microduplication Syndrome	Epistaxis, Broad nasal tip, Microcephaly, Recurrent upper respiratory tract infections, Deeply se...	ORPHA:293939
Congenital Disorder Of Glycosylation, Type Iit	Posteriorly rotated ears, Prominent nasal bridge, Hypertelorism, Microcephaly, Pineal cyst, Abnor...	OMIM:618885
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Posteriorly rotated ears, Hypertelorism, Microcephaly, Deeply set eye, Microtia, Low-set ears, Ma...	OMIM:618089
Bartsocas-Papas Syndrome 1	Anal stenosis, Cleft upper lip, Facial cleft, Cleft palate, Oral synechia, Microphthalmia, Anal a...	OMIM:263650
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Microcephaly-Micromelia Syndrome	Wide nose, Microcephaly, Aqueductal stenosis, Simplified gyral pattern, Aplasia/Hypoplasia of the...	OMIM:251230
3P25.3 Microdeletion Syndrome	Cerebral white matter atrophy, Depressed nasal bridge, Anteverted nares, Prominent nose, Sensorin...	ORPHA:435638
Grubben-De Cock-Borghgraef Syndrome	Partial agenesis of the corpus callosum	ORPHA:2101
Syngap1-Related Developmental And Epileptic Encephalopathy	Anteverted ears, Deeply set eye, Macrotia, Microcephaly	ORPHA:544254
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Microcephaly, Hypoplasia of the pons, Optic atrophy, Simplified gyral pattern, Cerebellar hypopla...	OMIM:617669
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Microcephaly, Precocious puberty, Delayed eruption of permanent teeth, Short nose	OMIM:619356
Distal 22Q11.2 Microduplication Syndrome	Branchial fistula, Wide nose, Microcephaly, Hypertelorism, Cryptorchidism, Hydrocephalus, Bulbous...	ORPHA:261337
Fanconi Anemia, Complementation Group S	Anteverted nares, Prominent nasal bridge, Microcephaly, Underdeveloped nasal alae, Hypertelorism,...	OMIM:617883
Thakker-Donnai Syndrome	Communicating hydrocephalus, Anteverted nares, Posteriorly rotated ears, Hypertelorism, Bulbous n...	ORPHA:1780
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Anteverted nares, Prominent nasal bridge, Microcephaly, Hypertelorism, Perisylvian polymicrogyria...	OMIM:618443
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Diffuse cerebral atrophy, Secondary microcephaly, Hypoplasia of the corpus callosum, Primary micr...	ORPHA:289266
Mosaic Trisomy 1	Cerebellar vermis hypoplasia, Depressed nasal bridge, Abnormal pinna morphology, Wide nasal bridg...	ORPHA:1692
Joubert Syndrome 2	Encephalocele, Agenesis of cerebellar vermis, Depressed nasal bridge, Hypertelorism, Hydrocephalu...	OMIM:608091
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Broad nasal tip, Bulbous nose, Protruding ear, Deeply set eye, Abnormal antihelix morphology, Hyp...	ORPHA:3041
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Cataract	OMIM:618805
Gracile Bone Dysplasia	Aniridia, Microphthalmia, Hydrocephalus, Death in infancy	OMIM:602361
Cdkl5-Deficiency Disorder	Deeply set eye	ORPHA:505652
Meckel Syndrome, Type 2	Encephalocele, Microphthalmia, Meningocele, Anencephaly	OMIM:603194
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Agenesis of corpus callosum, Microcephaly	ORPHA:1496
Congenital Myopathy 22A, Classic	Wide nasal bridge, Deeply set eye, Normal pressure hydrocephalus, Proptosis, Neonatal death	OMIM:620351
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Hypertelorism, Sensorineural heari...	ORPHA:1529
Maxillonasal Dysplasia, Binder Type	Large earlobe, Short nose, Short columella, Depressed nasal bridge	OMIM:155050
Fryns Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Aganglionic megacolon, Hypertelorism, Crypto...	ORPHA:2059
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Paganini-Miozzo Syndrome	Posteriorly rotated ears, Deeply set eye, Lateral ventricle dilatation, Microtia, Low-set ears	OMIM:301025
Combined Oxidative Phosphorylation Deficiency 51	Focal T2 hyperintense thalamic lesion, Optic atrophy, Cerebral atrophy, Hearing impairment	OMIM:619057
Bohring-Opitz Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Microcephaly, Hypert...	ORPHA:97297
Delpire-Mcneill Syndrome	Cortical dysplasia, Agenesis of corpus callosum, Bilateral sensorineural hearing impairment	OMIM:619083
15Q14 Microdeletion Syndrome	Prominent nasal bridge, Microcephaly, Deeply set eye, Biparietal narrowing, Low-set ears, Convex ...	ORPHA:261190
Trisomy 18	Low-set, posteriorly rotated ears, Cyclopia, Choanal atresia, Spina bifida, Microcephaly, Hyperte...	ORPHA:3380
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Depressed nasal bridge, Hypertelorism, Cryptorchidism, Bulbous nose, Bilateral microphthalmos, Wi...	ORPHA:369891
Trisomy 12P	Supernumerary nipple, Hypertelorism, Wide nasal bridge, Aplasia/Hypoplasia of the iris, Abnormal ...	ORPHA:1699
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Thin upper lip vermilion, Optic nerve hypoplasia, Thick lower lip vermilion, Cranial asymmetry, L...	ORPHA:137634
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Relative macrocephaly, Wide nose, Prominent nasal bridge, Convex nasal ridge, Microcephaly, Crypt...	ORPHA:251028
Developmental And Epileptic Encephalopathy 31B	Reduced cerebral white matter volume, Optic atrophy, Colpocephaly, Secondary microcephaly, Low-se...	OMIM:620352
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Depressed nasal bridge, Hypertelorism, Broad nasal tip, Proptosis, Sho...	OMIM:619736
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Cerebellar vermis hypoplasia, Prominent nose, Long nose, Cryptorchidism, Hypotelorism, Deeply set...	OMIM:300486
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Deeply set eye, Hypoplasia of the corpus callosum	ORPHA:521390
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Aganglionic megacolon, Posteriorly rotated ears, Broad nasal tip, Abnormally large globe, Hyperte...	OMIM:239300
Curry-Jones Syndrome	Megalencephaly, Lipomyelomeningocele, Hemimegalencephaly, Microphthalmia, Occipital meningocele, ...	OMIM:601707
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin...	OMIM:620303
Distal Deletion 10Q	Abnormal morphology of the vestibule of the inner ear, Prominent nasal bridge, Microcephaly, Prom...	ORPHA:96148
2Q37 Microdeletion Syndrome	Anteverted nares, Depressed nasal bridge, Supernumerary nipple, Microcephaly, Underdeveloped nasa...	ORPHA:1001
Mowat-Wilson Syndrome	Uplifted earlobe, Large basal ganglia, Deeply set eye, Chorioretinal coloboma, Agenesis of corpus...	OMIM:235730
Trigonocephaly 1	Hypotelorism, Short nose, Wide nasal bridge, Microcephaly	OMIM:190440
Fraser Syndrome	Encephalocele, Death in infancy, Low-set, posteriorly rotated ears, Cleft ala nasi, Depressed nas...	ORPHA:2052
Toriello-Carey Syndrome	Aganglionic megacolon, Thickened helices, Hearing impairment, Microcephaly, Abnormal pinna morpho...	ORPHA:3338
Macrocephaly-Intellectual Disability-Autism Syndrome	Depressed nasal bridge, Hypertelorism, Hurthle cell thyroid adenoma, Thyroid carcinoma, Macroceph...	ORPHA:210548
Meckel Syndrome, Type 1	Occipital encephalocele, Natal tooth, Adrenal hypoplasia, Microcephaly, Hypertelorism, Cryptorchi...	OMIM:249000
Smith-Magenis Syndrome	Abnormality of the thyroid gland, Deeply set eye, Wide nasal bridge, Hearing impairment	OMIM:182290
Monosomy 9P	Anteverted nares, Depressed nasal bridge, Choanal atresia, Microcephaly, Hypertelorism, Cryptorch...	ORPHA:261112
Warburg Micro Syndrome 3	Decreased testicular size, Microcephaly, Macrotia, Optic atrophy, Secondary microcephaly, Hypopla...	OMIM:614222
Braddock-Carey Syndrome 2	Microcephaly, Bulbous nose, Atresia of the external auditory canal, Microphthalmia, Hearing impai...	OMIM:619981
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Cerebellar vermis hypoplasia, Uplifted earlobe, Large basal ganglia, Deeply set eye, Agenesis of ...	ORPHA:261552
Neu-Laxova Syndrome 1	Wide nose, Spina bifida, Hypertelorism, Cryptorchidism, Macrotia, Depressed nasal ridge, Proptosi...	OMIM:256520
Apert Syndrome	Delayed eruption of teeth, Depressed nasal bridge, Absent septum pellucidum, Choanal atresia, Meg...	OMIM:101200
Webb-Dattani Syndrome	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Cryptorchid...	OMIM:615926
Duane Retraction Syndrome	Narrow internal auditory canal, Optic disc hypoplasia, Anteverted nares, Microcephaly, External e...	ORPHA:233
Microcephaly-Capillary Malformation Syndrome	Wide nose, Hypertelorism, Optic atrophy, Simplified gyral pattern, Cerebral atrophy, Hypoplasia o...	OMIM:614261
Recon Progeroid Syndrome	Attached earlobe, Anteverted nares, Prominent nasal bridge, Narrow nasal ridge, Underdeveloped na...	OMIM:620370
Monosomy 13Q14	Prominent nasal bridge, Microcephaly, Hypertelorism, Wide nasal bridge, Protruding ear, Holoprose...	ORPHA:1587
Sandestig-Stefanova Syndrome	Wide nasal bridge, Hypoplasia of the corpus callosum, Primary microcephaly, Low-set ears, Microph...	OMIM:618804
Spinocerebellar Ataxia-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Optic atrophy, Proptosis, Macrocephaly, Apla...	ORPHA:1185
Pontocerebellar Hypoplasia Type 2	Dysplastic corpus callosum, Progressive microcephaly, Abnormal cortical gyration, Hypoplasia of t...	ORPHA:2524
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Cerebellar vermis hypoplasia, Anteverted nares, Hypertelorism, Optic atrophy...	OMIM:619383
21Q22.11Q22.12 Microdeletion Syndrome	Anteverted nares, Microcephaly, Hypertelorism, Bulbous nose, Microtia, Hypoplastic nipples, Low-s...	ORPHA:261323
Lessel-Kreienkamp Syndrome	Wide nasal bridge, Deeply set eye, Hypoplastic helices, Overfolded helix, Hearing impairment	OMIM:619149
Hydrolethalus Syndrome 1	Abnormal pinna morphology, Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Sti...	OMIM:236680
Wieacker-Wolff Syndrome, Female-Restricted	Anteverted nares, Facial palsy, Posteriorly rotated ears, Microcephaly, Deeply set eye, Low-set ears	OMIM:301041
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Microphthalmia	OMIM:152950
Combined Oxidative Phosphorylation Deficiency 24	Microcephaly, Optic atrophy, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Hear...	OMIM:616239
Bachmann-Bupp Syndrome	Macrocephaly at birth, Cerebral calcification, Focal polymicrogyria, Hypertelorism, Cryptorchidis...	OMIM:619075
Marshall-Smith Syndrome	Bilateral cryptorchidism, Choanal stenosis, Shallow orbits, Death in childhood, Pachygyria, Agene...	OMIM:602535
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia	ORPHA:1806
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Deeply set eye, Death in adolescence, Microcephaly	OMIM:619059
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt...	ORPHA:300373
Tbck-Related Intellectual Disability Syndrome	Hyperthyroidism, Decreased response to growth hormone stimulation test, Microcephaly, Cryptorchid...	ORPHA:488632
Cach Syndrome	Microcephaly, T2 hypointense thalamus, Progressive macrocephaly, Optic atrophy, Cerebral atrophy,...	ORPHA:135
Trisomy 8P	Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Microcephaly, Hypertelorism, ...	ORPHA:264450
Jacobsen Syndrome	Low-set, posteriorly rotated ears, Death in infancy, Anteverted nares, Spina bifida, Iris colobom...	ORPHA:2308
12Q14 Microdeletion Syndrome	Wide nose, Diabetes mellitus, Prominent nasal bridge, Microcephaly, Hypertelorism, Deeply set eye...	ORPHA:94063
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Death in infancy, Anteverted nares, Aganglionic megacolon, Microcephaly, Hypertelorism, Cryptorch...	ORPHA:847
Cockayne Syndrome B	Slender nose, Abnormal pinna morphology, Prominent nasal bridge, Abnormal auditory evoked potenti...	OMIM:133540
Progressive Hemifacial Atrophy	Deeply set eye	ORPHA:1214
Panhypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot...	ORPHA:95513
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Underdeveloped superior crus of antihelix, Posteriorly rotated ears, H...	ORPHA:369950
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A...	OMIM:613986
Short Syndrome	Delayed eruption of teeth, Rieger anomaly, Underdeveloped nasal alae, Insulin-resistant diabetes ...	OMIM:269880
Distal 17P13.1 Microdeletion Syndrome	Prominent nasal bridge, Unilateral polymicrogyria, Microcephaly, Protruding ear, Deeply set eye	ORPHA:319171
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Narrow nasal base, Wide nose, Cleft ala nasi, Elevated circulating luteinizing hormone level, Dee...	ORPHA:3044
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Diffuse cerebral atrophy, Microcephaly, Hypertelorism, Optic atrophy, Deeply set eye, Retractile ...	OMIM:617193
Immunodeficiency 49	Natal tooth, Posteriorly rotated ears, Reduced cerebral white matter volume, Hypertelorism, Umbil...	OMIM:617237
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Cataract, Corneal opacity	ORPHA:290
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1	Optic disc pallor, Death in infancy, Microcephaly, Optic atrophy, Cerebral atrophy, Deeply set eye	OMIM:614388
Houge-Janssens Syndrome 1	Deeply set eye, Hydrocephalus, Hypertelorism, Macrocephaly	OMIM:616355
Microphthalmia, Syndromic 6	Anophthalmia, Adrenal hypoplasia, Uplifted earlobe, Protruding ear, Coloboma, Abnormality of the ...	OMIM:607932
Microphthalmia, Isolated, With Coloboma 9	Microcornea, Microphthalmia, Iris coloboma, Sclerocornea	OMIM:615145
Short Stature, Microcephaly, And Endocrine Dysfunction	Diabetes mellitus, Prominent nasal bridge, Microcephaly, Long nose, Cryptorchidism, Broad nasal t...	OMIM:616541
Pontocerebellar Hypoplasia, Type 10	Reduced cerebral white matter volume, Microcephaly, Underdeveloped nasal alae, Cryptorchidism, Bu...	OMIM:615803
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Underdeveloped nasal alae, Meningocele, Prot...	ORPHA:2031
Distal Duplication 18Q	Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Choanal atresia, Cry...	ORPHA:1716
Ritscher-Schinzel Syndrome 3	Relative macrocephaly, Death in infancy, Cerebellar vermis hypoplasia, Anteverted nares, Hypertel...	OMIM:619135
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Depressed nasal bridge, Anteverted nares, Cerebral atrophy, Deeply set eye, Hypoplasia of the cor...	OMIM:618797
Microphthalmia, Syndromic 9	Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Wide nasal bridge, Low-set ears, Neonatal...	OMIM:601186
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Spina bifida, Microcephaly, Facial palsy, Wide nasal bridge, Coloboma, Ab...	ORPHA:508498
Basal Ganglia Calcification, Idiopathic, 5	Basal ganglia calcification, Cerebral calcification, Thalamic calcification	OMIM:615483
Giant Axonal Neuropathy	Abnormal pituitary gland morphology	ORPHA:643
Fumarase Deficiency	Relative macrocephaly, Anteverted nares, Depressed nasal bridge, Microcephaly, Hypertelorism, Opt...	OMIM:606812
Raine Syndrome	Natal tooth, Death in infancy, Cerebral calcification, Depressed nasal bridge, Choanal atresia, M...	OMIM:259775
Intellectual Developmental Disorder, Autosomal Recessive 71	Abnormally large globe, Cryptorchidism, Deeply set eye, Macrocephaly, Macrotia	OMIM:618504
Coffin-Siris Syndrome	Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Microcephaly, Broad nasal ti...	ORPHA:1465
Chromosome 22Q11.2 Deletion Syndrome, Distal	Deeply set eye, Underdeveloped nasal alae	OMIM:611867
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
15Q Overgrowth Syndrome	Low-set, posteriorly rotated ears, Mixed hearing impairment, Posteriorly rotated ears, Hypertelor...	ORPHA:314585
Crouzon Syndrome With Acanthosis Nigricans	Brachycephaly, Craniosynostosis, Midface retrusion	OMIM:612247
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Dysplastic corpus callosum, Simplified gyral pattern, Microcephaly	OMIM:620001
Moebius Syndrome	Abnormal nasopharynx morphology, Hypogonadotropic hypogonadism, Depressed nasal bridge, Abnormal ...	OMIM:157900
Toriello-Lacassie-Droste Syndrome	Anteverted nares, Absent septum pellucidum, Aganglionic megacolon, Proptosis, Macrocephaly, Short...	ORPHA:3339
8P23.1 Microdeletion Syndrome	Prominent nasal bridge, Microcephaly, External ear malformation, Cryptorchidism, Wide nasal bridg...	ORPHA:251071
Baker-Gordon Syndrome	Prominent nasal tip, Short nose	OMIM:618218
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Low-set ears, Deeply set eye, Optic nerve hypoplasia, Hypoplasia of the corpus callosum	OMIM:618381
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Hypertelorism, Bulbous nose, Wide nasal bridge, Protruding ear, Retinal coloboma, Low-set ears, M...	OMIM:618571
Peho Syndrome	Anteverted nares, Microcephaly, External ear malformation, Hydrocephalus, Porencephalic cyst, Opt...	ORPHA:2836
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Globus pallidus calcification, Bulbous nose, Wide nasal bridge, Short nose, Macrotia	OMIM:620292
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hydrocele testis, Dysplastic corpus callosum, Neonatal death	OMIM:618810
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Prominent nasal bridge, Microcephaly, Cryptorchidism, Recurrent upper respiratory tract infection...	OMIM:300534
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Agenesis of corpus callosum	OMIM:250620
Adenohypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot...	ORPHA:95512
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lens coloboma, Cupped ear, Lateral ventricle dilatation, Umbilical hernia, Hypoplasia of the corp...	OMIM:618914
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Depressed nasal bridge, Anteverted nares, Hypertelorism, Proptosis, Death in childhood, Short nose	OMIM:618961
Halperin-Birk Syndrome	Hearing impairment, Optic atrophy, Colpocephaly, Death in childhood, Umbilical hernia, Agenesis o...	OMIM:618651
Fanconi Anemia, Complementation Group D2	Hypergonadotropic hypogonadism, Microcephaly, Hypertelorism, Cryptorchidism, Hydrocephalus, Hypot...	OMIM:227646
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Deeply set eye, Prominent nasal bridge, Low-set ears	OMIM:618480
Stankiewicz-Isidor Syndrome	Hypertelorism, Prominent nose, Cryptorchidism, Pineal cyst, Abnormal optic disc morphology, Low-s...	OMIM:617516
Congenital Disorder Of Glycosylation, Type Il	Depressed nasal bridge, Hypertelorism, Microcephaly, Low-set ears, Short nose, Global brain atrophy	OMIM:608776
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Basal ganglia calcification, Thalamic calcification	OMIM:618824
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Developmental cataract, Microcornea, Bupht...	ORPHA:91495
Fanconi Anemia, Complementation Group R	Microphthalmia, Hydrocephalus	OMIM:617244
Branchiooculofacial Syndrome	Anophthalmia, Conductive hearing impairment, Ectopic thymus tissue, Hypoplastic superior helix, I...	OMIM:113620
Vitreoretinochoroidopathy	Microcornea, Microphthalmia, Pulverulent cataract, Developmental cataract	OMIM:193220
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Death in infancy, Intracerebral periventricular calcifications, Posteriorly rotated ears, Microce...	OMIM:608836
Tetrasomy 5P	Pericallosal lipoma, Anteverted nares, Posteriorly rotated ears, Hypertelorism, Hydrocephalus, Wi...	ORPHA:3309
Microgastria-Limb Reduction Defect Syndrome	Frontal bossing, Anophthalmia, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal ...	ORPHA:2538
Potocki-Shaffer Syndrome	Short nose, Wide nasal bridge, Underdeveloped nasal alae	OMIM:601224
16P11.2P12.2 Microdeletion Syndrome	Anteverted nares, Abnormal pinna morphology, Long nose, Bulbous nose, Hypotelorism, Deeply set ey...	ORPHA:261211
Opitz Gbbb Syndrome	Natal tooth, Enlarged ovaries, Anteverted nares, Posteriorly rotated ears, Hearing impairment, Mi...	ORPHA:2745
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Optic nerve hypoplasia, Supernumerary nipple, Microcephaly, Underdeveloped nasal alae, Cryptorchi...	ORPHA:453504
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Stapes ankylosis, Anteverted nares, Microcephaly, Hypertelorism, Wide nasal bridge, Lobar holopro...	OMIM:614701
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Cerebellar vermis hypoplasia, Anteverted nares, Microcephaly, Broad nasal tip, Hypertelorism, Bul...	OMIM:300966
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Optic nerve hypoplasia, Supernumerary nipple, Microcephaly, Underdeveloped nasal alae, Cryptorchi...	ORPHA:352665
Proximal 16P11.2 Microduplication Syndrome	Abnormal basal ganglia MRI signal intensity, Hypertelorism, Microcephaly, Deeply set eye, Microtia	ORPHA:370079
Oculoauricular Syndrome	Cataract, Sclerocornea, Phthisis bulbi, Spina bifida occulta, Developmental cataract, Microcornea...	OMIM:612109
Linear Skin Defects With Multiple Congenital Anomalies 1	Absent septum pellucidum, Microcephaly, Hydrocephalus, Colpocephaly, Microphthalmia, Agenesis of ...	OMIM:309801
Beaulieu-Boycott-Innes Syndrome	Long nose, Deeply set eye, Low hanging columella, Microcephaly	OMIM:613680
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Hypertelorism, Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, Deeply set eye, Secondar...	OMIM:616875
Acrocallosal Syndrome	Posteriorly rotated ears, Abnormal pinna morphology, Persistence of primary teeth, Hypertelorism,...	OMIM:200990
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Anteverted nares, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hypertelorism, Hydroce...	ORPHA:457284
Peho Syndrome	Optic atrophy, Hypoplasia of the corpus callosum, Short nose, Pachygyria, Polymicrogyria, Progres...	OMIM:260565
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Microcephaly, Hypotelorism, Holoprosencephaly, Aplasia of the nose, Atresia o...	ORPHA:3186
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Underdeveloped nasal alae, Long nose, Deeply set eye, Large earlobe, L...	OMIM:257850
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Hypertelorism, Wide nasal bridge, Abnormal antihelix morphology, Large ear...	ORPHA:1438
Rhyns Syndrome	Decreased response to growth hormone stimulation test, Sensorineural hearing impairment, Pituitar...	OMIM:602152
Marfanoid-Progeroid-Lipodystrophy Syndrome	Prominent nasal bridge, Narrow nasal ridge, Hydrocephalus, Deeply set eye, Proptosis, Macrocephal...	OMIM:616914
Opitz-Kaveggia Syndrome	Relative macrocephaly, Choanal atresia, Prominent nose, Hypertelorism, Cryptorchidism, Partial ag...	OMIM:305450
Gangliocytoma	Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar...	ORPHA:251937
Skin Creases, Congenital Symmetric Circumferential, 1	Depressed nasal bridge, Posteriorly rotated ears, Microcephaly, Hypertelorism, Hypoplastic nipple...	OMIM:156610
Pitt-Hopkins Syndrome	Supernumerary nipple, Microcephaly, Cryptorchidism, Flared nostrils, Cupped ear, Wide nasal bridg...	OMIM:610954
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Death in infancy, Cerebellar vermis hypoplasia, Wide nasal bridge, Deeply set eye	OMIM:620070
Alazami Syndrome	Deeply set eye, Wide nose, Low-set ears, Mild microcephaly	ORPHA:319671
17Q12 Microduplication Syndrome	Microphthalmia, Cortical dysplasia, Deeply set eye	ORPHA:261272
Koolen-De Vries Syndrome Due To A Point Mutation	Decreased response to growth hormone stimulation test, Pineal cyst, Protruding ear, Thick nasal a...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Pineal cyst, Protruding ear, Thick nasal a...	ORPHA:363958
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Microcephaly, Partial agenesis of the corpus callosum, Neuronal loss in the cerebral cortex, Abno...	ORPHA:86822
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Optic disc pallor, Miscarriage, T2 hypointense thalamus, Cerebral atrophy, Hyperintensity of cere...	ORPHA:1947
Seckel Syndrome 2	Microphthalmia, Prominent nose, Cerebellar hypoplasia, Microcephaly	OMIM:606744
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Diabetes mellitus, Posteriorly rotated ears, Microcephaly, Prominent nose, Broad nasal tip, Hyper...	OMIM:614813
Fetal Hydantoin Syndrome	Low-set, posteriorly rotated ears, Abnormal pinna morphology, Hypertelorism, Microcephaly, Crypto...	ORPHA:1912
Aica-Ribosiduria	Wide mouth, Thin upper lip vermilion, Brachycephaly	ORPHA:250977
Borjeson-Forssman-Lehmann Syndrome	Microcephaly, Cryptorchidism, Deeply set eye, Large earlobe, Hypogonadism, Macrocephaly, Decrease...	ORPHA:127
Acromicric Dysplasia	Decreased nerve conduction velocity, Bulbous nose, Anteverted nares, Short nose	ORPHA:969
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Posteriorly rotated ears, Prominent nasal bridge, Underdeveloped nasal alae, Microcephaly, Crypto...	ORPHA:2083
Vici Syndrome	Schizencephaly, Cerebellar vermis hypoplasia, Depressed nasal bridge, Wide nose, Microcephaly, Hy...	OMIM:242840
Craniofrontonasal Syndrome	Hypertelorism, Bifid nasal tip, Cryptorchidism, Wide nasal bridge, Hypoplastic nasal tip, Agenesi...	OMIM:304110
Pitt-Hopkins Syndrome	Anteverted nares, Prominent nasal bridge, Supernumerary nipple, Microcephaly, Aganglionic megacol...	ORPHA:2896
X-Linked Intellectual Disability, Cantagrel Type	Short nose, Cerebral cortical atrophy, Hypoplasia of the corpus callosum	ORPHA:85277
Orofaciodigital Syndrome V	Unilateral cryptorchidism, Aganglionic megacolon, Microcephaly, Hypertelorism, Optic disc colobom...	OMIM:174300
Phelan-Mcdermid Syndrome	Microcephaly, Hypertelorism, Bulbous nose, Wide nasal bridge, Protruding ear, Deeply set eye, Con...	OMIM:606232
Spondylo-Ocular Syndrome	Cataract, Microphthalmia, Aplasia/Hypoplasia of the lens, Iris hypopigmentation	ORPHA:85194
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Choanal atresia, Depressed nasal bridge, Hypertelorism, Bilateral cryptorchidis...	OMIM:619859
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microcornea, Iris transillumination defect, Cataract, Microphthalmia	OMIM:617306
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Microcephaly, Optic atrophy, Cerebral atrophy, Large earlobe, Secondary microcephaly, ...	OMIM:615851
Nance-Horan Syndrome	Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract	OMIM:302350
Acrofacial Dysostosis Syndrome Of Rodriguez	Posteriorly rotated ears, Hypertelorism, Prominent nose, Wide nasal bridge, Deeply set eye, Low-s...	OMIM:201170
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Deeply set eye, Macrotia, Optic atrophy	ORPHA:1154
Chondrodysplasia-Difference Of Sex Development Syndrome	Microcephaly, Hypoplasia of the iris, Deeply set eye, Chorioretinal coloboma, Macrotia, Cerebral ...	ORPHA:1422
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Attached earlobe, Posteriorly rotated ears, Supernumerary nipple, Broad nasal tip, Hypertelorism,...	OMIM:619194
Ring Chromosome 13 Syndrome	Hypoplasia of the gallbladder, Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears...	ORPHA:96176
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Basal ganglia calcification, Thalamic calcification	OMIM:618317
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Aganglionic megacolon, Microcephaly, Megalencephaly, Hydrocephalus, Wide nasal bridge, Hydrocele ...	OMIM:613603
Myoectodermal Gonadal Dysgenesis Syndrome	Posteriorly rotated ears, Elevated circulating luteinizing hormone level, Underdeveloped nasal al...	OMIM:618419
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Short nose, Spina bifida occulta	ORPHA:1514
Fetal Trimethadione Syndrome	Depressed nasal bridge, Microcephaly, Overfolded helix, Abnormal helix morphology, Low-set ears, ...	ORPHA:1913
Maxillonasal Dysplasia	Depressed nasal bridge, Depressed nasal ridge, Short columella, Abnormal nostril morphology, Shor...	ORPHA:1248
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Hydrocephalus, Cataract	OMIM:616538
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism, Short nose, Uplifted earlobe, Hypertelorism	OMIM:300143
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Septo-optic dysplasia, Cerebellar vermis hypoplasia, Anteverted nare...	OMIM:619841
Short Syndrome	Diabetes mellitus, Hypertelorism, Sensorineural hearing impairment, Wide nasal bridge, Hypoplasia...	ORPHA:3163
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Cleft palate, Plagiocephaly, Decreased calvarial ossification, Trigonocephaly	OMIM:618265
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Multifocal...	ORPHA:488627
Otodental Syndrome	Cataract, Lens coloboma, Microcornea, Microphthalmia, Iris coloboma	ORPHA:2791
Wolf-Hirschhorn Syndrome	Rieger anomaly, Abnormal pinna morphology, Absent septum pellucidum, Microcephaly, Precocious pub...	OMIM:194190
X-Linked Intellectual Disability Due To Gria3 Mutations	Cerebellar vermis hypoplasia, Uplifted earlobe, Cryptorchidism, Deeply set eye, Hypoplasia of the...	ORPHA:364028
Cousin Syndrome	Posteriorly rotated ears, Hypertelorism, Hydrocephalus, Deeply set eye, Low-set ears, Macrocephal...	OMIM:260660
Alagille Syndrome	Hypertelorism, Long nose, Cryptorchidism, Protruding ear, Deeply set eye, Delayed puberty, Spina ...	ORPHA:52
Dyrk1A-Related Intellectual Disability Syndrome	Optic disc pallor, Narrow nasal tip, Anterior pituitary hypoplasia, Prominent nasal bridge, Micro...	ORPHA:464306
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Dysplastic corpus callosum, Microcephaly	OMIM:604273
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Depressed nasal bridge, Anteverted nares, Hypertelorism, Recurrent upper respiratory tract infect...	OMIM:614069
Fryns Syndrome	Ectopic pancreatic tissue, Anteverted nares, Aganglionic megacolon, Hypertelorism, Cryptorchidism...	OMIM:229850
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyd...	ORPHA:91350
Multiple Endocrine Neoplasia, Type I	Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno...	OMIM:131100
Kapur-Toriello Syndrome	Cryptorchidism, Bulbous nose, Retinal coloboma, Low-set ears, Conductive hearing impairment, Micr...	OMIM:244300
Mandibulofacial Dysostosis-Microcephaly Syndrome	Absent tragus, Overfolded helix, Abnormal middle ear morphology, Abnormal antihelix morphology, L...	ORPHA:79113
Zttk Syndrome	Relative macrocephaly, Absent gallbladder, Depressed nasal bridge, Dysplastic corpus callosum, Op...	OMIM:617140
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Prominent nose, Partial agenesis of the corpus callosum, Microlisse...	OMIM:210710
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Corneal opacity	ORPHA:2788
Myoclonic-Astatic Epilepsy	Anteverted nares, Microcephaly, Wide nasal bridge, Microphthalmia, Thick nasal alae	ORPHA:1942
Combined Oxidative Phosphorylation Deficiency 25	Depressed nasal bridge, Anteverted nares, Hypertelorism, Hypoplasia of the pons, Sensorineural he...	OMIM:616430
Pituitary Hormone Deficiency, Combined, 3	Anterior hypopituitarism, Gonadotropin deficiency, Decreased response to growth hormone stimulati...	OMIM:221750
Phace Syndrome	Optic nerve hypoplasia, Microcephaly, Hypothyroidism, Lens coloboma, Cerebellar hypoplasia, Ectop...	ORPHA:42775
Cono-Spondylar Dysplasia	Partial agenesis of the corpus callosum, Anteverted nares, Low-set ears, Hypertelorism	ORPHA:420794
Distal Duplication 5Q	Prominent nasal bridge, Microcephaly, Hypertelorism, Cryptorchidism, Aplasia/Hypoplasia of the ga...	ORPHA:96097
Monosomy 9Q22.3	Delayed eruption of teeth, Ovarian fibroma, Hydrocephalus, Thickened ears, Umbilical hernia, Calc...	ORPHA:77301
Alexander Disease	Cerebral calcification, Diabetes mellitus, Facial palsy, Megalencephaly, Aqueductal stenosis, Hyp...	ORPHA:58
3Q27.3 Microdeletion Syndrome	Slender nose, Thick corpus callosum, Deeply set eye, Low-set ears, Small earlobe, Convex nasal ridge	ORPHA:397695
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Depressed nasal bridge, Microcephaly, Wide nasal bridge, Deeply set eye, Bilateral sensorineural ...	OMIM:619418
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Posteriorly rotated ears, Spina bifida, Broad nasal tip, Hypertelorism, Cyst of the ductus choled...	OMIM:619480
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Supernumerary nipple, Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Lo...	ORPHA:457279
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Cryptorchidism, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty	OMIM:612702
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Microcephaly, Sensorineural hearing impairment, Hypoplasia of the corpus cal...	ORPHA:544503
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Chromosome 1P36 Deletion Syndrome, Distal	Depressed nasal ridge, Deeply set eye, Conductive hearing impairment, Thickened helices, Pachygyr...	OMIM:607872
8Q21.11 Microdeletion Syndrome	Wide nose, Underdeveloped nasal alae, Hypertelorism, Cryptorchidism, Abnormality of the sense of ...	ORPHA:284160
Acrodysostosis	Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Hypertelorism, Cryptorchidis...	ORPHA:950
Xeroderma Pigmentosum, Complementation Group F	Aplasia/Hypoplasia involving the central nervous system, Deeply set eye, Hearing impairment, Micr...	OMIM:278760
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Cerebral cortical atrophy, Macrocephaly, Advanced eruption of teeth, Shor...	OMIM:617865
Fetal Alcohol Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Microcephaly, Biparietal narrowing, Micropht...	ORPHA:1915
Coffin-Siris Syndrome 12	Hypotelorism, Protruding ear, Deeply set eye, Hippocampal atrophy, Hypothyroidism, Simple ear, An...	OMIM:619325
Aarskog-Scott Syndrome	Anteverted nares, Elevated circulating luteinizing hormone level, Hypertelorism, Bilateral crypto...	OMIM:305400
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft palate, Cleft upper lip	OMIM:179400
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Short nose, Protruding ear, Cerebral atrophy, Hypertelorism	OMIM:615539
Birk-Landau-Perez Syndrome	Microcephaly, Optic atrophy, Progressive sensorineural hearing impairment, Pachygyria, Agenesis o...	OMIM:617595
Oculodentodigital Dysplasia	Narrow nasal bridge, Cerebral calcification, Anteverted nares, Abnormality of the nose, Underdeve...	ORPHA:2710
Tetrasomy 18P	Low-set, posteriorly rotated ears, Short nose, Microcephaly	ORPHA:3307
Leigh Syndrome	Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, Sensorineural hearin...	ORPHA:506
Femoral-Facial Syndrome	Maternal diabetes, Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, Microtia, Low-set e...	ORPHA:1988
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Relative macrocephaly, Natal tooth, Prominent nose, Hypertelorism, Cryptorchidism,...	OMIM:616300
2Q31.1 Microdeletion Syndrome	Microcephaly, Hypertelorism, Cryptorchidism, Bulbous nose, Optic disc coloboma, Coloboma, Proptos...	ORPHA:251014
Spinocerebellar Ataxia With Epilepsy	Optic atrophy, Focal T2 hyperintense thalamic lesion, Cerebral infarct	ORPHA:254881
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Depressed nasal bridge, Anteverted nares, Long nose, Cryptorchidism, Bulbous nose, Deeply set eye...	OMIM:620224
3Q29 Microduplication Syndrome	Microcephaly, Wide nasal bridge, Biparietal narrowing, Low-set ears, Macrocephaly, Aniridia, Micr...	ORPHA:251038
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Depressed nasal bridge, Anteverted nares, Hypertelorism, Microphthalmia, Short nose	ORPHA:163649
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Premature thelarche, Microcephaly, Abnorma...	ORPHA:268261
Craniosynostosis, Herrmann-Opitz Type	Hypertelorism, Abnormal antihelix morphology, Microtia, Short nose, Convex nasal ridge	ORPHA:2145
16P12.1P12.3 Triplication Syndrome	Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Bulbous nose, La...	ORPHA:485405
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Absent septu...	OMIM:615287
Fetal Valproate Spectrum Disorder	Short nose, Depressed nasal ridge	ORPHA:1906
Melanocytic Nevus Syndrome, Congenital	Anteverted nares, Narrow nasal ridge, Hypertelorism, Broad nasal tip, Short nose	OMIM:137550
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Wide nose, Anophthalmia, Anteverted nares, Microcephaly, Optic atrophy, Wide nasal bridge, Protru...	ORPHA:2526
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Anteverted nares, Posteriorly rotated ears, Microcephaly, Hypertelorism, Wide nasal bridge, Large...	OMIM:616897
De Barsy Syndrome	Delayed eruption of teeth, Cerebellar vermis hypoplasia, Hypertelorism, Cryptorchidism, Deeply se...	ORPHA:2962
Achondrogenesis	Umbilical hernia, Short nose, Anteverted nares, Macrocephaly	ORPHA:932
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hypoplasia of the iris, Hydrocephalus, Nasofrontal encephalocele, Small pituitary gland	OMIM:614195
Pfeiffer Syndrome Type 1	Depressed nasal bridge, Hypertelorism, Aqueductal stenosis, Proptosis, Low-set ears, Short nose, ...	ORPHA:93258
Cardiofaciocutaneous Syndrome 1	Relative macrocephaly, Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Hypert...	OMIM:115150
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic nerve hypoplasia, Convex nasal ridge, Microcephaly, Hydrocephalus, Optic atrophy, Deeply se...	OMIM:619321
Jaberi-Elahi Syndrome	Depressed nasal bridge, Microcephaly, Globus pallidus hypointensity on susceptibility-weighted im...	OMIM:617988
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome	Depressed nasal bridge, Uplifted earlobe, Hypertelorism, Hearing impairment, Protruding ear, Deep...	ORPHA:412069
Pfeiffer Syndrome	Depressed nasal bridge, Choanal atresia, Hypertelorism, Hydrocephalus, Choanal stenosis, Shallow ...	OMIM:101600
Microphthalmia, Lenz Type	Delayed eruption of teeth, Low-set, posteriorly rotated ears, Microcephaly, External ear malforma...	ORPHA:568
Peroxisome Biogenesis Disorder 5A (Zellweger)	Death in infancy, Hypertelorism, Cryptorchidism, Sensorineural hearing impairment, Optic nerve dy...	OMIM:614866
Osteopathia Striata With Cranial Sclerosis	Natal tooth, Posteriorly rotated ears, Facial palsy, Hypertelorism, Partial agenesis of the corpu...	OMIM:300373
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Cerebral white matter atrophy, Optic atrophy, Hypotelorism, Cerebellar hypoplasia, Abnormal periv...	ORPHA:329178
Steinfeld Syndrome	Absent gallbladder, Abnormal pinna morphology, Retinal coloboma, Holoprosencephaly, Aplasia of th...	OMIM:184705
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Microcephaly	OMIM:308350
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Aplasia of the nasal bone, Prominent nasal bridge, Hypertelorism, Sens...	OMIM:601812
Coffin-Siris Syndrome 4	Narrow nasal bridge, Wide nose, Anteverted nares, Depressed nasal bridge, Microcephaly, Wide nasa...	OMIM:614609
7Q11.23 Microduplication Syndrome	Low-set, posteriorly rotated ears, Broad nasal tip, Hypertelorism, Cryptorchidism, Hydrocephalus,...	ORPHA:96121
14Q24.1Q24.3 Microdeletion Syndrome	Prominent nasal bridge, Hypertelorism, Cryptorchidism, Wide nasal bridge, Short nose	ORPHA:401935
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Deeply set eye, Macrotia, Wide nasal bridge, Hypertelorism	ORPHA:2575
Kury-Isidor Syndrome	Deeply set eye, Anteverted nares, Low-set ears	OMIM:619762
Basal Cell Nevus Syndrome 1	Ovarian fibroma, Spina bifida, Hypertelorism, Hydrocephalus, Wide nasal bridge, Ovarian carcinoma...	OMIM:109400
Xp21 Deletion Syndrome	Hypogonadotropic hypogonadism, Hypertelorism, Primary adrenal insufficiency, Adrenal insufficienc...	ORPHA:261476
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Depressed nasal bridge, Microcephaly, Hypertelorism, Bulbous nose, Wide nasal bridge, Overfolded ...	OMIM:617061
Lenz-Majewski Hyperostotic Dwarfism	Absent septum pellucidum, Choanal atresia, Facial palsy, Hypertelorism, Cryptorchidism, Hydroceph...	ORPHA:2658
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Choanal stenosis, Conductive hearing impairment, Severe sensorineural hearing imp...	OMIM:620186
Galloway-Mowat Syndrome 3	Microcephaly, Hypertelorism, Simplified gyral pattern, Cerebral atrophy, Deeply set eye, Lissence...	OMIM:617729
Rubinstein-Taybi Syndrome 1	Premature thelarche, Prominent nose, Bilateral cryptorchidism, Coloboma, Deeply set eye, Spina bi...	OMIM:180849
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Small pituitary gland	OMIM:614880
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Death in infancy, Diabetes mellitus, Underdeveloped nasal alae, Microc...	ORPHA:2315
Cockayne Syndrome A	Slender nose, Abnormal pinna morphology, Abnormal auditory evoked potentials, Microcephaly, Promi...	OMIM:216400
Pfeiffer Syndrome Type 2	Depressed nasal bridge, Choanal atresia, Hypertelorism, Aqueductal stenosis, Hydrocephalus, Propt...	ORPHA:93259
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Partial agenesis of the corpus callosum, Thin corpus callosum	OMIM:619653
Achondrogenesis Type 1B	Umbilical hernia, Short nose, Anteverted nares, Macrocephaly	ORPHA:93298
Hallermann-Streiff Syndrome	Natal tooth, Prominent nasal bridge, Spina bifida, Underdeveloped nasal alae, Microcephaly, Crypt...	OMIM:234100
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Optic disc pallor, Prominent nasal bridge, Microcephaly, Cryptorchidism, Protruding ear, Deeply s...	ORPHA:464311
Congenital Disorder Of Glycosylation, Type Iif	Hypotelorism, Deeply set eye, Microcephaly	OMIM:603585
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Deeply set eye, Cerebral cortical atrophy, Microcephaly	OMIM:619428
Aicardi Syndrome	Microcephaly, Precocious puberty, Partial agenesis of the corpus callosum, Optic disc coloboma, O...	ORPHA:50
Cdags Syndrome	Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Rectourethral fistula, Brachycepha...	OMIM:603116
Codas Syndrome	Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Sensorineural hearing impair...	ORPHA:1458
Facial Paresis, Hereditary Congenital, 3	Depressed nasal bridge, Anteverted nares, Facial palsy, Posteriorly rotated ears, Sensorineural h...	OMIM:614744
Meier-Gorlin Syndrome 6	Anteverted nares, Decreased response to growth hormone stimulation test, Depressed nasal bridge, ...	OMIM:616835
Carnitine Palmitoyltransferase Ii Deficiency	Cerebral calcification, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal basal ganglia morph...	ORPHA:157
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Anteverted nares, Depressed nasal bridge, Abnormal pinna morphology, Aplasia/Hypoplasia of the ce...	ORPHA:75389
Pallister-Hall Syndrome	Adrenal hypoplasia, Gonadotropin deficiency, Depressed nasal ridge, Holoprosencephaly, Low-set, p...	ORPHA:672
Leber Congenital Amaurosis 8	Deeply set eye, Macular coloboma	OMIM:613835
Chromosome Xq13 Duplication Syndrome	Hyperintensity of cerebral white matter on MRI, Deeply set eye, Posteriorly rotated ears	OMIM:301069
Odontochondrodysplasia	Delayed eruption of teeth, Death in infancy, Short nose, Depressed nasal bridge	ORPHA:166272
20Q11.2 Microduplication Syndrome	Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Microcephaly, Crypto...	ORPHA:363659
Achondrogenesis Type 1A	Umbilical hernia, Short nose, Anteverted nares, Macrocephaly	ORPHA:93299
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short nose, Proptosis, Wide nasal bridge, Hearing impairment	OMIM:614078
Waardenburg Syndrome Type 1	Aganglionic megacolon, Spina bifida, Underdeveloped nasal alae, Congenital sensorineural hearing ...	ORPHA:894
Pterygium Colli, Isolated	Short nose, Protruding ear	OMIM:177990
Stickler Syndrome Type 1	Short nose, Proptosis, Sensorineural hearing impairment	ORPHA:90653
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Cleft palate, Non-midline cleft lip, Lip pit	ORPHA:1072
Autosomal Recessive Cutis Laxa Type 2A	Thick cerebral cortex, Dysplastic corpus callosum, Secondary microcephaly, Primary microcephaly, ...	ORPHA:357058
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Death in infancy, Deeply set eye, Death in childhood	OMIM:619064
D-Glyceric Aciduria	Optic nerve hypoplasia, Microcephaly, Sensorineural hearing impairment, Deeply set eye, Cerebral ...	OMIM:220120
Wiedemann-Rautenstrauch Syndrome	Hypotelorism, Deeply set eye, Hypoplasia of the thymus, Small earlobe, Agenesis of corpus callosu...	OMIM:264090
Microphthalmia With Limb Anomalies	Low-set, posteriorly rotated ears, Death in infancy, Depressed nasal bridge, Cryptorchidism, Hydr...	ORPHA:1106
Tetrasomy 12P	Delayed eruption of teeth, Short nose, Anteverted nares, Hypertelorism	ORPHA:884
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Cavum septum pellucidum, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, H...	OMIM:619074
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Brachycephaly, Craniosynostosis	OMIM:614416
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu...	OMIM:278730
Subaortic Stenosis-Short Stature Syndrome	Low-set, posteriorly rotated ears, Microphthalmia, Anteverted nares, Type II diabetes mellitus	ORPHA:3191
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Microcephaly, Cryptorchidism, Hypotelorism, Deeply set eye, Atresia of the external auditory cana...	OMIM:602471
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Microcephaly	DECIPHER:52
Fibular Hemimelia	Anophthalmia, Spina bifida	ORPHA:93323
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Depressed nasal bridge, Posteriorly rotated ears, Microcephaly, Broad nasal tip, Cryptorchidism, ...	OMIM:309590
Prolactinoma	Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra...	ORPHA:2965
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in infancy, Wide nose, Depressed nasal bridge, Anteverted nares, Microtia, Low-set ears, De...	OMIM:613320
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpituitarism, Ant...	ORPHA:91351
Intellectual Developmental Disorder, Autosomal Dominant 1	Cerebellar vermis hypoplasia, Prominent nose, Microcephaly, Hypertelorism, Bulbous nose, Cupped e...	OMIM:156200
Mend Syndrome	Prominent nasal bridge, Abnormal auditory evoked potentials, Hypertelorism, Cryptorchidism, Hydro...	ORPHA:401973
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Anteverted nares, Choanal atresia, Posteriorly rotated ears, Microcephaly, Overfolded helix, Hypo...	OMIM:301044
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Microcephaly, Abnormality of the th...	ORPHA:209905
Norrie Disease	Narrow nasal bridge, Diabetes mellitus, Aplasia/Hypoplasia of the lens, Remnants of the hyaloid v...	ORPHA:649
Pde4D Haploinsufficiency Syndrome	Depressed nasal bridge, Posteriorly rotated ears, Prominent nose, Hypertelorism, Cryptorchidism, ...	ORPHA:439822
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dysplastic corpus callosum, Hypothyroidism, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618569
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Aganglionic megacolon, Broad nasal tip, Microcephaly, Hypertelorism, Sensorineural hearing impair...	OMIM:614207
Arthrogryposis, Distal, Type 5	Deeply set eye, Protruding ear	OMIM:108145
Chromosome 8Q21.11 Deletion Syndrome	Underdeveloped nasal alae, Hypertelorism, Cryptorchidism, Sensorineural hearing impairment, Wide ...	OMIM:614230
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Deeply set eye, Sensorineural hearing impairment	OMIM:608154
Acrodysostosis 2 With Or Without Hormone Resistance	Diabetes mellitus, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Congenital hypothyro...	OMIM:614613
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Deeply set eye	OMIM:617915
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Depressed nasal bridge, Posteriorly rotated ears, Broad nasal tip, Hypertelorism, Bulbous nose, W...	ORPHA:466950
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Anteverted nares, Posteriorly rotated ears, Microcephaly, Cryptorchidi...	OMIM:247200
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Microcephaly, Cerebral atrophy, Deeply set eye, Type II diabetes mellitus, Hypoplasia of the corp...	OMIM:618891
Yunis-Varon Syndrome	Narrow nasal base, Anteverted nares, Abnormal pinna morphology, Hypertelorism, Cryptorchidism, Hy...	ORPHA:3472
Galloway-Mowat Syndrome 1	Narrow nasal ridge, Microcephaly, Prominent nose, Hypertelorism, Macrotia, Optic atrophy, Cerebra...	OMIM:251300
Toluene Embryopathy	Microcephaly, Cryptorchidism, Protruding ear, Biparietal narrowing, Low-set ears, Short nose	ORPHA:1920
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Relative macrocephaly, Narrow nasal bridge, Prominent nose, Dysplastic corpus callosum, Cryptorch...	OMIM:300967
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Small earlobe, Prominent nasal bridge, Underdeveloped nasal alae, Microcephaly, Hypertelorism, Bu...	ORPHA:364577
Fg Syndrome 5	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:300581
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Abnormal pinna morphology, Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, Deeply set e...	ORPHA:480898
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Prominent nasal bridge, Bifid nasal tip, Sensorineural hearing impairm...	ORPHA:2712
Microlissencephaly-Micromelia Syndrome	Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Liss...	ORPHA:50810
White-Kernohan Syndrome	Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Dysplastic corpus callosum, ...	OMIM:619426
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Cerebral atrophy, Abnormal cerebral white matter morphology, Focal T2 hyperint...	ORPHA:79264
Molybdenum Cofactor Deficiency, Complementation Group B	Diffuse cerebral atrophy, Microcephaly, Hypertelorism, Cerebral atrophy, Hypoplasia of the corpus...	OMIM:252160
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Depressed nasal bridge, Anteverted nares, Optic nerve hypoplasia, Broad nasal tip, Hypertelorism,...	ORPHA:221139
Orofaciodigital Syndrome Type 14	Low-set, posteriorly rotated ears, Microcephaly, Bilateral cryptorchidism, Partial agenesis of th...	ORPHA:434179
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Natal tooth, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Mic...	OMIM:615948
Wiedemann-Rautenstrauch Syndrome	Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Deeply set eye, Age...	ORPHA:3455
Combined Oxidative Phosphorylation Deficiency 53	Dysplastic corpus callosum, Secondary microcephaly	OMIM:619423
Malan Syndrome	Advanced eruption of teeth, Short nose, Hypoplasia of the corpus callosum, Macrocephaly	OMIM:614753
Momo Syndrome	Delayed eruption of teeth, Underfolded helix, Hypertelorism, Abnormality of the thyroid gland, Bi...	ORPHA:2563
Martsolf Syndrome 1	Depressed nasal bridge, Hypogonadotropic hypogonadism, Posteriorly rotated ears, Microcephaly, Br...	OMIM:212720
Perlman Syndrome	Depressed nasal bridge, Cryptorchidism, Wide nasal bridge, Pancreatic islet-cell hyperplasia, Low...	OMIM:267000
Cardiofaciocutaneous Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Hypertelorism, Crypt...	ORPHA:1340
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Depressed nasal bridge, Anteverted nares, Microcephaly, Long nose, Bulbous nose, Deeply set eye, ...	ORPHA:508533
Xfe Progeroid Syndrome	Microcephaly, Optic atrophy, Death in adolescence, Deeply set eye, Convex nasal ridge, Hearing im...	OMIM:610965
Joubert Syndrome 16	Encephalocele, Coloboma	OMIM:614465
Trichothiodystrophy	Cerebral dysmyelination, Microcephaly, Hypertelorism, Cryptorchidism, Partial agenesis of the cor...	ORPHA:33364
Faciocardiorenal Syndrome	Cleft palate, Plagiocephaly, Hypodontia, Narrow mouth, Smooth philtrum	ORPHA:1973
Wolf-Hirschhorn Syndrome	Low-set, posteriorly rotated ears, Microcephaly, Hypertelorism, Cryptorchidism, Optic atrophy, Wi...	ORPHA:280
Cutis Laxa, Autosomal Recessive, Type Iiib	Posteriorly rotated ears, Narrow nasal ridge, Hypertelorism, Underdeveloped nasal alae, Cryptorch...	OMIM:614438
Distal 22Q11.2 Microdeletion Syndrome	Branchial fistula, Prominent nasal bridge, Choanal atresia, Underdeveloped nasal alae, Microcepha...	ORPHA:261330
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Hypogonadotropic hypogonadism, Hypertelorism, Anosmia, Abnormal nostril morphology, Short nose	ORPHA:1295
Diamond-Blackfan Anemia 8	Short nose, Wide nasal bridge, Hypertelorism	OMIM:612563
Ohdo Syndrome	Depressed nasal bridge, Anteverted nares, Cryptorchidism, Wide nasal bridge, Microtia, Short nose...	OMIM:249620
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Frontal bossing, Cleft upper lip, Esophageal atresia, Facial cleft, Ectopic anus, Long philtrum, ...	ORPHA:93271
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Intracerebral periventricular calcifications, Cerebral calcification, Cerebellar vermis hypoplasi...	ORPHA:228308
Autosomal Dominant Omodysplasia	Cryptorchidism, Short nose, Depressed nasal bridge, Hypertelorism	ORPHA:93328
Ruvalcaba Syndrome	Microcephaly, Cryptorchidism, Delayed puberty, Short nose, Convex nasal ridge	ORPHA:3121
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Simplified gyral pattern, Protruding ear, Deeply set eye, Cerebellar hemisphere hypoplasia, Absen...	ORPHA:500150
Deafness-Craniofacial Syndrome	Deeply set eye, Sensorineural hearing impairment, Wide nasal bridge, Underdeveloped nasal alae	ORPHA:3241
Hypomandibular Faciocranial Dysostosis	Aplasia/Hypoplasia of the tongue, Craniosynostosis, Narrow mouth, Brachycephaly, Cleft palate, Mi...	ORPHA:1790
Chromosome 16P13.3 Duplication Syndrome	Wide nose, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Hypertelorism, Cry...	OMIM:613458
Meningioma	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th...	ORPHA:2495
Melas	Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonadism, Aplasia/Hypoplasia of the c...	ORPHA:550
Neurodevelopmental Disorder With Language Delay And Seizures	Diffuse cerebral atrophy, Cryptorchidism, Hypothalamic hamartoma, Hypothyroidism, Thin corpus cal...	OMIM:619908
Pelizaeus-Merzbacher Disease In Female Carriers	Hyperintensity of cerebral white matter on MRI, Deeply set eye, Hypertelorism, Abnormal corpus ca...	ORPHA:280229
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Elevated circula...	ORPHA:289548
Mosaic Variegated Aneuploidy Syndrome	Low-set, posteriorly rotated ears, Wide nose, Microcephaly, Depressed nasal ridge, Aplasia/Hypopl...	ORPHA:1052
Orofaciodigital Syndrome Type 6	Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Prominent nasal bridge, Broad na...	ORPHA:2754
Marshall-Smith Syndrome	Anteverted nares, Choanal atresia, Hypertelorism, Optic atrophy, Proptosis, Cerebellar hypoplasia...	ORPHA:561
Neurodegeneration With Brain Iron Accumulation 2A	Decreased nerve conduction velocity, Optic atrophy, Cerebral atrophy, Short nose, Hearing impairment	OMIM:256600
Teebi Hypertelorism Syndrome 1	Natal tooth, Depressed nasal bridge, Anteverted nares, Hypertelorism, Wide nasal bridge, Hydrocel...	OMIM:145420
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Thick cerebral cortex, Anteverted nares, Broad nasal tip, Hypertelorism, Progressive microcephaly...	ORPHA:357074
Histiocytoid Cardiomyopathy	Hydrocephalus, Optic atrophy, Polycystic ovaries, Microphthalmia, Agenesis of corpus callosum, Co...	ORPHA:137675
Achondrogenesis, Type Ii	Frontal bossing, Abnormally large globe, Brachycephaly, Cleft palate, Long philtrum	OMIM:200610
Say-Barber-Miller Syndrome	Low-set, posteriorly rotated ears, Prominent nasal bridge, Broad nasal tip, Microcephaly, Cryptor...	ORPHA:3132
Congenital Heart Defects And Skeletal Malformations Syndrome	Long nose, Cryptorchidism, Deeply set eye, Short nose, Narrow nose	OMIM:617602
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Elevated circulating luteinizing hormon...	ORPHA:168558
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Aganglionic megacolon, Prominent nasal bridge, Posteriorly rotated ears, Bulbous nose, Cupped ear...	OMIM:613870
Combined Oxidative Phosphorylation Deficiency 12	Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko...	OMIM:614924
Trichothiodystrophy 1, Photosensitive	Death in infancy, Microcephaly, Protruding ear, Hypogonadism, Microphthalmia, Short nose, Macrotia	OMIM:601675
17Q24.2 Microdeletion Syndrome	Otosclerosis, Decreased response to growth hormone stimulation test, Hypertelorism, Wide nasal br...	ORPHA:529962
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Anteverted nares, Posteriorly rotated ears, Low-set ears, Conductive hearing impairment, Short no...	OMIM:617877
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Short nasal bridge, Microcephaly, Pachygyria, Hydrocephalus, Optic atrophy, Aplasia/Hypoplasia of...	OMIM:253280
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Posteriorly rotated ears, Abnormal cortical gyration, Cessation of head growth, Short nose, Optic...	OMIM:617527
Chromosome 19Q13.11 Deletion Syndrome, Distal	Anteverted nares, Underdeveloped nasal alae, Microcephaly, Cryptorchidism, Wide nasal bridge, Low...	OMIM:613026
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Prominent nose, Microcephaly, Bulbous nose, Elevated cir...	OMIM:620185
Duane-Radial Ray Syndrome	Abnormal nasopharynx morphology, Optic disc hypoplasia, Choanal atresia, Facial palsy, Aganglioni...	OMIM:607323
Dermotrichic Syndrome	Aganglionic megacolon, Short nose, Macrotia, Depressed nasal bridge	ORPHA:99688
Smith-Lemli-Opitz Syndrome	Diffuse cerebral atrophy, Partial agenesis of the corpus callosum, Holoprosencephaly, Dandy-Walke...	OMIM:270400
Orofaciodigital Syndrome Type 5	Aganglionic megacolon, Hypertelorism, Agenesis of corpus callosum, Microcephaly	ORPHA:2919
Simpson-Golabi-Behmel Syndrome	Low-set, posteriorly rotated ears, Death in infancy, Anteverted nares, Supernumerary nipple, Hype...	ORPHA:373
New-Onset Refractory Status Epilepticus	Focal T2 hyperintense basal ganglia lesion, Abnormal basal ganglia MRI signal intensity, Abnormal...	ORPHA:363558
Igg4-Related Thyroid Disease	Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland...	ORPHA:64744
Developmental And Epileptic Encephalopathy 49	Cerebral calcification, Microcephaly, Basal ganglia calcification, Hydrocephalus, Dysplastic corp...	OMIM:617281
Mandibulofacial Dysostosis, Guion-Almeida Type	Anteverted nares, Choanal atresia, Microcephaly, Overfolded helix, Microtia, Atresia of the exter...	OMIM:610536
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Anteverted nares, Microcephaly, Hypertelorism, Hydrocephalus, Bulbous nose, Cupped ear, Wide nasa...	OMIM:619475
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Microcephaly, Bifid nasal tip, Unilateral microphthalmos, Macrocephaly, Macroorchidism, Polymicro...	OMIM:618874
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Depressed nasal bridge, Anteverted nares, Microcephaly, Broad nasal tip, Hypertelorism, Optic dis...	OMIM:617157
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros...	ORPHA:95699
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Narrow nasal ridge, Underdeveloped nasal alae, Cortical dysplasia, Deeply set eye, Hypoplasia of ...	OMIM:618343
Trisomy 20P	Low-set, posteriorly rotated ears, Anteverted nares, Spina bifida, Hypertelorism, Cryptorchidism,...	ORPHA:261318
Crouzon Syndrome	Frontal bossing, Dental crowding, Sagittal craniosynostosis, Brachycephaly, High palate, Lambdoid...	OMIM:123500
Pelviscapular Dysplasia	Abnormal pinna morphology, Hypertelorism, Deeply set eye, Low-set ears, Macrocephaly, Hearing imp...	ORPHA:93333
Rabson-Mendenhall Syndrome	Increased pineal volume, Enlarged ovaries, Wide nose, Anteverted nares, Prominent nasal bridge, P...	ORPHA:769
Pfeiffer Syndrome Type 3	Depressed nasal bridge, Choanal atresia, Hypertelorism, Aqueductal stenosis, Proptosis, Low-set e...	ORPHA:93260
Monosomy 22Q13.3	Bulbous nose, Wide nasal bridge, Deeply set eye, Macrocephaly, Umbilical hernia, Macrotia, Agenes...	ORPHA:48652
Non-24-Hour Sleep-Wake Syndrome	Abnormal pineal melatonin secretion	ORPHA:73267
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Depressed nasal bridge, Posteriorly rotated ears, Hypertelorism, Cryptorchidism, Cerebral atrophy...	OMIM:601353
Aymé-Gripp Syndrome	Depressed nasal bridge, Posteriorly rotated ears, Hypertelorism, Cryptorchidism, Hydrocephalus, S...	ORPHA:1272
Neurodevelopmental Disorder With Absent Language And Variable Seizures	Deeply set eye, Proptosis	OMIM:618707
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Hydranencephaly	Dysgenesis of the thalamus, Optic nerve hypoplasia, Thalamic edema, Hypotelorism, Infantile senso...	ORPHA:2177
Developmental And Epileptic Encephalopathy 84	Deeply set eye, Large earlobe, Microcephaly	OMIM:618792
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Cataract, Developmental cataract	OMIM:616395
Joubert Syndrome 15	Coloboma, Exencephaly	OMIM:614464
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Wide nose, Anteverted nares, Decreased response to growth hormone stimulation test, Supernumerary...	OMIM:213980
3Q29 Microdeletion Syndrome	Prominent nasal bridge, Microcephaly, Low-set ears, Macrocephaly, Microphthalmia, Short nose, Mac...	ORPHA:65286
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Aganglionic megacolon, Broad nasal tip, Microcephaly, Hypertelorism, Wide nasal bridge, Short nos...	OMIM:614749
Congenital Myopathy 22B, Severe Fetal	Wide nasal bridge, Leukoencephalopathy, Deeply set eye, Proptosis, Low-set ears, Short nose	OMIM:620369
Gaucher Disease, Perinatal Lethal	Depressed nasal bridge, Anteverted nares, Microcephaly, Hypertelorism, Microtia, Low-set ears, Ne...	OMIM:608013
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Frontal bossing, Abnormal dental morphology, Abnormal dental enamel morphology, Parietal foramina...	ORPHA:85199
Cohen Syndrome	Prominent nasal bridge, Microcephaly, Cryptorchidism, Sensorineural hearing impairment, Aplasia/H...	ORPHA:193
Robinow Syndrome, Autosomal Dominant 2	Mixed hearing impairment, Depressed nasal bridge, Anteverted nares, Hypertelorism, Cryptorchidism...	OMIM:616331
Robinow Syndrome, Autosomal Recessive 2	Relative macrocephaly, Anteverted nares, Posteriorly rotated ears, Broad nasal tip, Hypertelorism...	OMIM:618529
Oculocerebral Hypopigmentation Syndrome, Cross Type	Depressed nasal bridge, Anteverted nares, Microcephaly, Cryptorchidism, Sensorineural hearing imp...	ORPHA:2719
Combined Oxidative Phosphorylation Defect Type 7	Optic atrophy, Abnormal thalamic MRI signal intensity, Abnormal cerebral white matter morphology,...	ORPHA:254930
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Deeply set eye, Wide nasal bridge	ORPHA:2314
Cenani-Lenz Syndrome	Hypertelorism, Protruding ear, Proptosis, Short nose, Hypothyroidism, Convex nasal ridge, Hearing...	ORPHA:3258
Cerebrofaciothoracic Dysplasia	Low-set, posteriorly rotated ears, Wide nose, Cerebellar vermis hypoplasia, Hypertelorism, Hypopl...	ORPHA:1394
Hypotonia, Ataxia, And Delayed Development Syndrome	Cerebellar vermis hypoplasia, Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears,...	OMIM:617330
Sheehan Syndrome	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot...	ORPHA:91355
Adenylosuccinase Deficiency	Anteverted nares, Microcephaly, Cerebral atrophy, Low-set ears, Short nose	OMIM:103050
Gabriele-De Vries Syndrome	Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Cryptorchidism, ...	ORPHA:506358
Neuroferritinopathy	Caudate atrophy, Abnormal putamen morphology, T2 hypointense thalamus, Abnormal thalamic MRI sign...	ORPHA:157846
Wiedemann-Steiner Syndrome	Decreased response to growth hormone stimulation test, Microcephaly, Hypertelorism, Wide nasal br...	ORPHA:319182
Spondylodysplastic Ehlers-Danlos Syndrome	Low-set, posteriorly rotated ears, Agenesis of pineal gland, Anteverted nares, Optic nerve hypopl...	ORPHA:536471
Oculodentodigital Dysplasia	Narrow nasal bridge, Anteverted nares, Abnormal pinna morphology, Microcephaly, Underdeveloped na...	OMIM:164200
Neuromuscular Oculoauditory Syndrome	Posteriorly rotated ears, Decreased nerve conduction velocity, Sensorineural hearing impairment, ...	OMIM:618733
Meckel Syndrome 14	Occipital encephalocele, Anteverted nares, Hypertelorism, Holoprosencephaly, Low-set ears, Microp...	OMIM:619879
Frontofacionasal Dysplasia	Underdeveloped nasal alae, Hypertelorism, Bifid nose, Midline defect of the nose, Cranium bifidum...	OMIM:229400
Intellectual Developmental Disorder, X-Linked 98	Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Underdeveloped nasal alae, Long...	OMIM:300912
Cockayne Syndrome	High-frequency sensorineural hearing impairment, Optic disc pallor, Cerebral calcification, Diabe...	ORPHA:191
Cutis Laxa, Autosomal Recessive, Type Iia	Anteverted nares, Microcephaly, Low-set ears, Short nose, Pachygyria, Polymicrogyria, Dandy-Walke...	OMIM:219200
Congenital Fibrinogen Deficiency	Microphthalmia, Developmental cataract	ORPHA:335
Atelosteogenesis, Type I	Encephalocele, Depressed nasal bridge, Hypertelorism, Cryptorchidism, Stillbirth, Proptosis, Low-...	OMIM:108720
Pelvis-Shoulder Dysplasia	Abnormal pinna morphology, Spina bifida, Hydrocephalus, Bilateral microphthalmos, Microtia, Retin...	ORPHA:2839
Mucopolysaccharidosis, Type Iiid	Depressed nasal bridge, Anteverted nares, Hypertelorism, Recurrent upper respiratory tract infect...	OMIM:252940
Fontaine Progeroid Syndrome	Death in infancy, Cerebellar vermis hypoplasia, Absent nipple, Depressed nasal bridge, Posteriorl...	OMIM:612289
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Short nose, Anteverted nares	OMIM:619854
Fanconi Anemia, Complementation Group L	Hypertelorism, Hydrocephalus, Wide nasal bridge, Depressed nasal tip, Anotia, Microtia, Cerebella...	OMIM:614083
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Developmental And Epileptic Encephalopathy 2	Deeply set eye, Anteverted nares, Progressive microcephaly	OMIM:300672
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Microcephaly, Wide nasal bridge, Buphthalmos, Short nose, Hypothyroidism	OMIM:618005
Cadds	Abnormal cerebral white matter morphology, Short nose, Adrenal hypoplasia, Sensorineural hearing ...	ORPHA:369942
Dubowitz Syndrome	Delayed eruption of teeth, Prominent nasal bridge, Broad nasal tip, Microcephaly, Cryptorchidism,...	OMIM:223370
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Cerebellar vermis hypoplasia, Uplifted earlobe, Large basal ganglia, Deeply set eye, Agenesis of ...	ORPHA:261537
Lathosterolosis	Cerebral calcification, Anteverted nares, Microcephaly, Bulbous nose, Meningocele, Biparietal nar...	ORPHA:46059
Cockayne Syndrome Type 3	Optic disc pallor, Cerebral white matter atrophy, Basal ganglia calcification, Deeply set eye, Pr...	ORPHA:90324
Genitopatellar Syndrome	Delayed eruption of teeth, Wide nose, Prominent nasal bridge, Microcephaly, Prominent nose, Hypot...	OMIM:606170
Hemimegalencephaly	Cranial asymmetry	ORPHA:99802
Orofaciodigital Syndrome Type 1	Choanal atresia, Underdeveloped nasal alae, Pancreatic cysts, Hypertelorism, Wide nasal bridge, A...	ORPHA:2750
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Hypergonadotropic hypogonadism, Microcephaly, Insulin-resistant diabete...	ORPHA:2959
Blepharophimosis, Ptosis, And Epicanthus Inversus	Depressed nasal bridge, Increased circulating gonadotropin level, Cupped ear, Wide nasal bridge, ...	OMIM:110100
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Depressed nasal bridge, Anteverted nares, Cerebral atrophy, Cerebellar hypoplasia, Low-set ears, ...	OMIM:615398
Familial Acute Necrotizing Encephalopathy	Abnormal putamen morphology, Abnormal thalamus morphology, Cerebral edema	ORPHA:88619
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,...	OMIM:601552
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormal basal ganglia MRI signal intensity, Optic disc pallor, Decreased nerve conduction veloci...	ORPHA:485421
1P36 Deletion Syndrome	Low-set, posteriorly rotated ears, Depressed nasal bridge, Microcephaly, Cryptorchidism, Hypothyr...	ORPHA:1606
Autosomal Recessive Omodysplasia	Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Cryptorchidism, Low-set ears,...	ORPHA:93329
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Microcephaly, Hypertelorism, ...	OMIM:301040
Rhizomelic Dysplasia, Patterson-Lowry Type	Wide nose, Depressed nasal ridge, Short nose	ORPHA:2831
Congenital Disorder Of Glycosylation, Type Iie	Death in infancy, Wide nose, Sensorineural hearing impairment, Cerebral atrophy, Hypoplasia of th...	OMIM:608779
Bosma Arhinia Microphthalmia Syndrome	Hypogonadotropic hypogonadism, Choanal atresia, Absent tragus, Hypertelorism, Abnormal pinna morp...	OMIM:603457
Ogden Syndrome	Maternal diabetes, Protruding ear, Deeply set eye, Depressed nasal bridge, Hypertelorism, Cryptor...	OMIM:300855
Marshall Syndrome	Cerebral calcification, Depressed nasal bridge, Anteverted nares, Hypertelorism, Sensorineural he...	ORPHA:560
Fanconi Anemia, Complementation Group F	Microphthalmia, Cryptorchidism, Decreased response to growth hormone stimulation test, Microcephaly	OMIM:603467
Degcags Syndrome	Anteverted nares, Prominent nasal bridge, Hearing impairment, Microcephaly, Prominent nose, Crypt...	OMIM:619488
Stormorken Syndrome	Hypotelorism, Deeply set eye, Epistaxis, Prominent nose	OMIM:185070
Ohdo Syndrome, X-Linked	Depressed nasal bridge, Posteriorly rotated ears, Prominent nose, Hypertelorism, Cryptorchidism, ...	OMIM:300895
Distal Deletion 9P	Low-set, posteriorly rotated ears, Hypertelorism, Aplasia/Hypoplasia of the earlobes, Wide nasal ...	ORPHA:1642
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Deeply set eye, Low-set ears, Microcephaly	OMIM:600987
Otopalatodigital Syndrome Type 2	Encephalocele, Depressed nasal bridge, Abnormal pinna morphology, Hypertelorism, Myelomeningocele...	ORPHA:90652
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anteverted nares, Anterior pituitary hypoplasia, Depressed nasal bridge, Hypertelorism, Aqueducta...	OMIM:619534
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Hypertelorism, Cupped ear, Ov...	OMIM:614080
Helsmoortel-Van Der Aa Syndrome	Anteverted nares, Decreased response to growth hormone stimulation test, Facial palsy, Broad nasa...	OMIM:615873
Familial Exudative Vitreoretinopathy	Microphthalmia, Cataract	ORPHA:891
Teebi-Shaltout Syndrome	Broad nasal tip, Underdeveloped nasal alae, Microcephaly, Hypertelorism, Wide nasal bridge, Low-s...	OMIM:272950
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Depressed nasal bridge, Hypertelorism, Microcephaly, Microtia, Low-set ears, Short nose	OMIM:616723
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Short nose, Depressed nasal bridge, Macrocephaly	ORPHA:2835
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Duplicated tragus, Hydrocephalus, Sensorineural hearing im...	OMIM:164210
Nablus Mask-Like Facial Syndrome	Small earlobe, Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Hypertelorism,...	OMIM:608156
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microcephaly, Cupped ear, Wide nasal bridge, Microtia, Microphthalmia	ORPHA:1352
Achard Syndrome	Broad skull, Brachycephaly	OMIM:100700
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Intracerebral periventricular calcifications, Microcephaly, Decrease...	ORPHA:168577
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Anteverted nares, Depressed nasal bridge, Microcephaly, Increased axial length of the globe, Abno...	ORPHA:513456
Bone Marrow Failure Syndrome 3	Microcephaly, Pancreatic steatosis, Cryptorchidism, Hypertelorism, Cupped ear, Deeply set eye, Hy...	OMIM:617052
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia, Ectopia pupillae, Astigmatism, Cataract	OMIM:618727
Peters Plus Syndrome	Low-set, posteriorly rotated ears, Microtia, second degree, Anteverted nares, Depressed nasal bri...	ORPHA:709
Stuve-Wiedemann Syndrome 1	Death in infancy, Anteverted nares, Deeply set eye, Abnormal autonomic nervous system physiology,...	OMIM:601559
Adams-Oliver Syndrome	Encephalocele, Hydrocephalus, Porencephalic cyst, Microphthalmia, Periventricular leukomalacia	ORPHA:974
Diaphanospondylodysostosis	Depressed nasal bridge, Hypertelorism, Depressed nasal ridge, Low-set ears, Short nose, Polymicro...	OMIM:608022
Ring Chromosome 7 Syndrome	Small earlobe, Anteverted nares, Prominent nasal bridge, Microcephaly, Prominent crus of helix, W...	ORPHA:1449
Myhre Syndrome	Prominent nasal bridge, Microcephaly, Hypertelorism, Cryptorchidism, Deeply set eye, Microtia, Lo...	OMIM:139210
Chops Syndrome	Anteverted nares, Microcephaly, Hypertelorism, Cryptorchidism, Optic atrophy, Proptosis, Thickene...	OMIM:616368
Trisomy 10P	Absent gallbladder, Anteverted nares, Periventricular white matter hypodensities, Depressed nasal...	ORPHA:171929
C Syndrome	Anteverted nares, Posteriorly rotated ears, Microcephaly, Cryptorchidism, Wide nasal bridge, Low-...	OMIM:211750
Prolidase Deficiency	Depressed nasal bridge, Hypertelorism, Concave nasal ridge, Proptosis, Short nose	OMIM:170100
Baller-Gerold Syndrome	Mixed hearing impairment, Posteriorly rotated ears, Optic nerve hypoplasia, Prominent nasal bridg...	OMIM:218600
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Depressed nasal bridge, Anteverted nares, Hypertelorism, Low-set ears, Short nose	OMIM:242860
Tsh-Secreting Pituitary Adenoma	Enlarged pituitary gland, Hyperthyroidism, Hypogonadotropic hypogonadism, Female hypogonadism, El...	ORPHA:91347
Refsum Disease	Microphthalmia, Cataract	ORPHA:773
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Basal ganglia calcification, Hypogonadism, Microcephaly	OMIM:610651
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Deeply set eye	OMIM:305390
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Anteverted nares, Thickened helices, Microcephaly, Precocious puberty, Prominent nose, Bulbous no...	OMIM:619950
Bartsocas-Papas Syndrome	Short nose, Underdeveloped nasal alae, Microcephaly	ORPHA:1234
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Khan-Khan-Katsanis Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Sensorineural hearing impairment, Buphthalmos, Colpoc...	OMIM:618460
Fg Syndrome Type 1	Optic nerve hypoplasia, Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum,...	ORPHA:93932
Angelman Syndrome	Deeply set eye, Secondary microcephaly, Cerebral cortical atrophy	OMIM:105830
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Nasal polyposis, Iris coloboma, Hypertelorism	OMIM:155145
Down Syndrome	Depressed nasal bridge, Aganglionic megacolon, Depressed nasal ridge, Type II diabetes mellitus, ...	ORPHA:870
Marden-Walker Syndrome	Posteriorly rotated ears, Absent septum pellucidum, Microcephaly, Hydrocephalus, Cerebellar hypop...	ORPHA:2461
Chromosome 10Q22.3-Q23.2 Deletion Syndrome	Hypertelorism, Breast aplasia, Deeply set eye, Macrocephaly	OMIM:612242
X-Linked Dominant Chondrodysplasia Punctata	Abnormal pinna morphology, Depressed nasal bridge, Hypertelorism, Sensorineural hearing impairmen...	ORPHA:35173
Fibrochondrogenesis 1	Depressed nasal bridge, Anteverted nares, Abnormal pinna morphology, Stillbirth, Proptosis, Low-s...	OMIM:228520
Plaa-Associated Neurodevelopmental Disorder	Low-set, posteriorly rotated ears, Cerebral white matter atrophy, Abnormal cortical gyration, Mic...	ORPHA:521426
Japanese Encephalitis	Decreased motor nerve conduction velocity, Abnormal substantia nigra morphology, Facial palsy, Ab...	ORPHA:79139
Encephalocraniocutaneous Lipomatosis	Cerebral calcification, Absent septum pellucidum, Cerebral atrophy, Subcortical cerebral atrophy,...	ORPHA:2396
Arboleda-Tham Syndrome	Posteriorly rotated ears, Prominent nasal bridge, Microcephaly, Bilateral cryptorchidism, Bifid n...	OMIM:616268
Faundes-Banka Syndrome	Premature thelarche, Underdeveloped nasal alae, Hypertelorism, Cryptorchidism, Bulbous nose, Cupp...	OMIM:619376
Spondyloepiphyseal Dysplasia, Nishimura Type	Short nose	OMIM:618618
Van Esch-O'Driscoll Syndrome	Depressed nasal bridge, Hypogonadotropic hypogonadism, Microcephaly, Cerebral atrophy, Protruding...	OMIM:301030
Antley-Bixler Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Choanal atresia, Hypertelorism, Proptosis, S...	ORPHA:83
Linear Nevus Sebaceus Syndrome	Cerebral calcification, Porencephalic cyst, Aplasia/Hypoplasia of the corpus callosum, Adenoma se...	ORPHA:2612
Desbuquois Dysplasia 1	Short nose, Concave nasal ridge, Depressed nasal bridge, Proptosis	OMIM:251450
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Natal tooth, Depressed nasal bridge, Abnormal pinna morphology, Hypertelorism...	OMIM:617925
Schneckenbecken Dysplasia	Umbilical hernia, Short nose, Stillbirth, Macrocephaly	OMIM:269250
22Q11.2 Deletion Syndrome	Hypoplasia of the thymus, Conductive hearing impairment, Small earlobe, Hypothyroidism, Hypoparat...	ORPHA:567
Deeah Syndrome	Death in infancy, Decreased response to growth hormone stimulation test, Anterior pituitary hypop...	OMIM:619004
Mandibuloacral Dysplasia With Type B Lipodystrophy	Death in early adulthood, Narrow nasal ridge, Insulin-resistant diabetes mellitus, Hyperinsulinem...	OMIM:608612
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Depressed nasal bridge, Posteriorly rotated ears, Broad nasal tip, Hypertelorism, Bulbous nose, S...	ORPHA:466943
Intellectual Developmental Disorder, Autosomal Dominant 29	Wide nose, Hypertelorism, Cryptorchidism, Deeply set eye, Low-set ears, Hearing impairment	OMIM:616078
Kaufman Oculocerebrofacial Syndrome	Optic disc pallor, Depressed nasal bridge, Anteverted nares, Abnormal pinna morphology, Microceph...	OMIM:244450
Macrocephaly/Autism Syndrome	Depressed nasal bridge, Hydrocele testis, Biparietal narrowing, Short nose, Postnatal macrocephaly	OMIM:605309
Gapo Syndrome	Depressed nasal bridge, Anteverted nares, Facial palsy, Hypertelorism, Optic atrophy, Protruding ...	OMIM:230740
Schinzel-Giedion Syndrome	Choanal stenosis, Shallow orbits, Streak ovary, Hypertelorism, Abnormal cochlea morphology, Propt...	ORPHA:798
Mowat-Wilson Syndrome	Cerebellar vermis hypoplasia, Uplifted earlobe, Large basal ganglia, Deeply set eye, Conductive h...	ORPHA:2152
Mietens Syndrome	Wide nose, Wide nasal bridge, Short nose, Microcephaly	ORPHA:2557
Focal Dermal Hypoplasia	Narrow nasal bridge, Spina bifida, Hypoplasia of the iris, Umbilical hernia, Chorioretinal colobo...	ORPHA:2092
Intellectual Developmental Disorder, Autosomal Dominant 38	Depressed nasal bridge, Microcephaly, Cerebral atrophy, Deeply set eye, Low-set ears	OMIM:616393
Coffin-Siris Syndrome 1	Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Abnormal pinna morphology, Mi...	OMIM:135900
Rothmund-Thomson Syndrome, Type 2	Delayed eruption of teeth, Depressed nasal bridge, Underfolded helix, Hypertelorism, Cryptorchidi...	OMIM:268400
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Cerebral calcification, Hypergonadotropic hypogonadism, Decreased resp...	ORPHA:79444
Tetrasomy 9P	Absent gallbladder, Convex nasal ridge, Hypertelorism, Cryptorchidism, Hydrocephalus, Bulbous nos...	ORPHA:3310
Skin Creases, Congenital Symmetric Circumferential, 2	Depressed nasal bridge, Posteriorly rotated ears, Uplifted earlobe, Microcephaly, Hypertelorism, ...	OMIM:616734
Otopalatodigital Syndrome, Type I	Hypertelorism, Wide nasal bridge, Multiple impacted teeth, Conductive hearing impairment, Short nose	OMIM:311300
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Death in infancy, Sensorineural hearing impairment, Focal T2 hyperintense thalamic lesion	OMIM:619046
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascular system, Hypoplas...	OMIM:609049
Localized Scleroderma	Deeply set eye, Proptosis, Hashimoto thyroiditis, Abnormality of the nose	ORPHA:90289
Brachytelephalangic Chondrodysplasia Punctata	Mixed hearing impairment, Optic disc hypoplasia, Optic nerve hypoplasia, Broad nasal tip, Depress...	ORPHA:79345
Temtamy Preaxial Brachydactyly Syndrome	Abnormally large globe, Optic atrophy, Abnormal optic disc morphology, Low-set ears, Severe senso...	ORPHA:363417
Multiple Benign Circumferential Skin Creases On Limbs	Microcornea, Microphthalmia	ORPHA:2505
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Microcephaly, Prominent nose, H...	OMIM:612474
Fanconi Anemia	Aganglionic megacolon, Choanal atresia, Spina bifida, Microcephaly, Hypertelorism, Cryptorchidism...	ORPHA:84
Combined Oxidative Phosphorylation Defect Type 23	Abnormal basal ganglia MRI signal intensity, Abnormal thalamic MRI signal intensity	ORPHA:444013
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short nose	ORPHA:1389
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Depressed nasal bridge, Microcephaly, Hypertelorism, Proptosis, Increased size of nasopharyngeal ...	ORPHA:457395
Oculocerebral Hypopigmentation Syndrome, Preus Type	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Abnormality of the diencephalon, Hearing imp...	ORPHA:2720
Lathosterolosis	Anteverted nares, Bilobate gallbladder, Microcephaly, Myelomeningocele, Wide nasal bridge, Cerebr...	OMIM:607330
Prader-Willi Syndrome	Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Cry...	ORPHA:739
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Short ear, Wide nose, Anteverted nares, Abnormal cortical gyration, Bulbous nose, Deeply set eye,...	ORPHA:314647
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Axillary apocrine gland hypoplasia, H...	OMIM:181450
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Cryptorchidism, Microcephaly	ORPHA:2728
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Wide nose, Anteverted nares, Depressed nasal bridge, Miscarriage, Microcephaly, Posteriorly rotat...	ORPHA:96334
Hallermann-Streiff Syndrome	Natal tooth, Choanal atresia, Microcephaly, Underdeveloped nasal alae, Cryptorchidism, Cerebellar...	ORPHA:2108
Carey-Fineman-Ziter Syndrome	Cerebral calcification, Anteverted nares, Facial palsy, Microcephaly, Aplasia/Hypoplasia of the c...	ORPHA:1358
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Anteverted nares, Sensorineural hearing impairment, Porencephalic cyst, Low-set ears, Shallow orb...	OMIM:612394
Oculoectodermal Syndrome	Depressed nasal bridge, Supernumerary nipple, Wide nasal bridge, Pineal cyst, Proptosis, Macrocep...	OMIM:600268
Oculo-Palato-Cerebral Syndrome	Remnants of the hyaloid vascular system, Microcephaly, Aplasia/Hypoplasia of the corpus callosum,...	ORPHA:2714
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate	ORPHA:2736
Fibrochondrogenesis 2	Short nose, Anteverted nares	OMIM:614524
Acute Disseminated Encephalomyelitis	Hypointensity of cerebral white matter on MRI, Diffuse white matter abnormalities, Abnormal thala...	ORPHA:83597
Intellectual Developmental Disorder, Autosomal Dominant 68	Posteriorly rotated ears, Microcephaly, Bulbous nose, Deeply set eye, Absent earlobe	OMIM:619934
Sandhoff Disease, Infantile Form	Abnormal thalamic MRI signal intensity, Progressive macrocephaly, Cerebral cortical atrophy	ORPHA:309155
Craniosynostosis And Dental Anomalies	Delayed eruption of teeth, Frontal bossing, Turricephaly, Flat occiput, Dental crowding, Sagittal...	OMIM:614188
Peroxisome Biogenesis Disorder 4B	Hypertelorism, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic atrop...	OMIM:614863
Molybdenum Cofactor Deficiency, Complementation Group A	Microcephaly, Hypertelorism, Cerebral atrophy, Hypoplasia of the corpus callosum, Macrocephaly, S...	OMIM:252150
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Lateral ventricle dilatation, Small pituitary gland, Hypoplasia of the corpus callosum	OMIM:619479
Au-Kline Syndrome	Wide nasal ridge, Supernumerary nipple, Prominent nasal bridge, Underdeveloped nasal alae, Crypto...	OMIM:616580
Menke-Hennekam Syndrome 1	Narrow nasal bridge, Short ear, Prominent inferior crus of antihelix, Anteverted nares, Depressed...	OMIM:618332
Renpenning Syndrome 1	Hearing impairment, Microcephaly, Bulbous nose, Cupped ear, Wide nasal bridge, Cerebral atrophy, ...	OMIM:309500
Alg9-Cdg	Low-set, posteriorly rotated ears, Depressed nasal bridge, Underdeveloped nasal alae, Hypertelori...	ORPHA:79328
Marshall Syndrome	Depressed nasal bridge, Anteverted nares, Hypertelorism, Sensorineural hearing impairment, Calcif...	OMIM:154780
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Eruption failure, Short nose, Secondary microcephaly, Primary microcephaly	ORPHA:476126
Acrofrontofacionasal Dysostosis 1	Cleft upper lip, Brachycephaly, Cleft palate, Wide mouth, Oligodontia, Microphthalmia	OMIM:201180
Pyruvate Carboxylase Deficiency	Cerebral white matter atrophy, Periventricular cysts, Increased caudate lactate level, Hyperinten...	ORPHA:3008
Phace Association	Microphthalmia, Optic nerve hypoplasia, Lingual thyroid, Congenital hypothyroidism	OMIM:606519
Opsismodysplasia	Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Hypertelorism, Macrocephaly, ...	OMIM:258480
Thrombocytopenia 6	Spontaneous, recurrent epistaxis, Deeply set eye, Hypotelorism	OMIM:616937
Stormorken-Sjaastad-Langslet Syndrome	Deeply set eye	ORPHA:3204
Robinow Syndrome, Autosomal Dominant 3	Depressed nasal bridge, Anteverted nares, Hypertelorism, Cryptorchidism, Wide nasal bridge, Propt...	OMIM:616894
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Partial agenesis of the corpus callosum, Low-set ears, Microcephaly	OMIM:617478
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Anteverted nares, Microcephaly, Hypertelorism, Cryptorchidism, Wide nasal bridge, Microtia, Short...	ORPHA:2282
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Posteriorly rotated ears, Deeply set eye, Multinodular goiter, Microcephaly	OMIM:620189
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Microcephaly, Cryptorchidism, Increased circulating...	ORPHA:2232
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Microphthalmia, Basal ganglia calcification	OMIM:127000
Orofaciodigital Syndrome Type 4	Wide nose, Microtia, third degree, Monorchism, Choanal atresia, Posteriorly rotated ears, Microce...	ORPHA:2753
Roberts-Sc Phocomelia Syndrome	Posteriorly rotated ears, Abnormal pinna morphology, Microcephaly, Underdeveloped nasal alae, Cry...	OMIM:268300
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Short nose, Hypertelorism	OMIM:266810
Ctcf-Related Neurodevelopmental Disorder	Low-set, posteriorly rotated ears, Anteverted nares, Broad nasal tip, Microcephaly, Cryptorchidis...	ORPHA:363611
1P21.3 Microdeletion Syndrome	Broad nasal tip, Deeply set eye, Long ear, Macrocephaly, Short nose	ORPHA:293948
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Congenital Horner syndrome, Delayed eruption of teeth, Depressed nasal bridge, Decreased response...	OMIM:619503
Phosphoribosylpyrophosphate Synthetase Superactivity	Depressed nasal bridge, Cryptorchidism, Sensorineural hearing impairment, Hypotelorism, Low-set e...	OMIM:300661
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Nasal polyposis, Absent outer dynein arms, Anosmia, Chronic rhinitis...	OMIM:244400
Musculocontractural Ehlers-Danlos Syndrome	Low-set, posteriorly rotated ears, Hypertelorism, External ear malformation, Cryptorchidism, Prot...	ORPHA:2953
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Deeply set eye, Sensorineural hearing impairment, Prominent nasal bridge	OMIM:609944
Robinow Syndrome	Mixed hearing impairment, Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Bro...	ORPHA:97360
Simpson-Golabi-Behmel Syndrome, Type 1	Cerebellar vermis hypoplasia, Anteverted nares, Depressed nasal bridge, Supernumerary nipple, Hyp...	OMIM:312870
Geroderma Osteodysplasticum	Deeply set eye, Hypertelorism, Microcephaly	OMIM:231070
Osteoglophonic Dysplasia	Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Choanal atresia, Hypertelori...	OMIM:166250
Sim1-Related Prader-Willi-Like Syndrome	Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Absence of...	ORPHA:398079
Oculocerebrorenal Syndrome Of Lowe	Delayed eruption of teeth, Death in infancy, Hyperparathyroidism, Low-set, posteriorly rotated ea...	ORPHA:534
Tetraamelia Syndrome 1	Choanal atresia, Hydrocephalus, Single naris, Adrenal gland agenesis, Low-set ears, Microphthalmia	OMIM:273395
Lymphedema-Distichiasis Syndrome	Microphthalmia, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions	OMIM:153400
Poikiloderma With Neutropenia	Depressed nasal bridge, Hypertelorism, Underdeveloped nasal alae, Recurrent sinusitis, Short nose	OMIM:604173
Chondrodysplasia Punctata 2, X-Linked Dominant	Abnormal pinna morphology, Concave nasal ridge, Microphthalmia, Dandy-Walker malformation, Hearin...	OMIM:302960
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Macrocephaly at birth, Anteverted nares, Hypertelorism, Partial absence of cerebellar vermis, Ove...	ORPHA:280633
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Mixed hearing impairment, Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Hyd...	ORPHA:536467
Ayme-Gripp Syndrome	Depressed nasal bridge, Posteriorly rotated ears, Hypertelorism, Sensorineural hearing impairment...	OMIM:601088
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Posteriorly rotated ears, Prominent nasal bridge, Underdeveloped nasal alae, Microcephaly, Hypert...	OMIM:608670
Neuroocular Syndrome	Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Microcephaly, Unilateral deafne...	OMIM:619539
Peters-Plus Syndrome	Posteriorly rotated ears, Bilobate gallbladder, Microcephaly, Hypertelorism, Cryptorchidism, Hydr...	OMIM:261540
Baller-Gerold Syndrome	Narrow nasal bridge, Prominent nasal bridge, Hypertelorism, Hypotelorism, Proptosis, Conductive h...	ORPHA:1225
Achondrogenesis, Type Ia	Hypoplastic nasal bridge, Anteverted nares, Depressed nasal bridge, Stillbirth, Low-set ears, Sho...	OMIM:200600
Pseudohypoparathyroidism Type 1A	Delayed eruption of teeth, Cerebral calcification, Hypergonadotropic hypogonadism, Decreased resp...	ORPHA:79443
Tay-Sachs Disease	Hypointensity of cerebral white matter on MRI, Precocious puberty, Progressive macrocephaly, Abno...	ORPHA:845
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Aganglionic megacolon, Absent septum pellucidum, Choanal atresia, Microcephaly, Cryptorchidism, S...	ORPHA:2273
Robinow Syndrome, Autosomal Recessive 1	Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Hypertelorism, Cryptorchidism...	OMIM:268310
Autosomal Recessive Robinow Syndrome	Low-set, posteriorly rotated ears, Death in infancy, Depressed nasal bridge, Anteverted nares, Hy...	ORPHA:1507
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia, Ectopia pupillae, Corneal opacity, Lens subluxation	ORPHA:85167
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Pseudohypoparat...	ORPHA:94089
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Anteverted nares, Depressed nasal bridge, Hypertelorism, Splenop...	OMIM:269150
Okamoto Syndrome	Depressed nasal bridge, Anteverted nares, Microcephaly, Underdeveloped nasal alae, Abnormally lar...	ORPHA:2729
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Low-set, posteriorly rotated ears, Mixed hearing impairment, Anteverted nares, Decreased response...	ORPHA:444077
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose, Shallow orbits	ORPHA:1129
Adams-Oliver Syndrome 1	Encephalocele, Supernumerary nipple, Microcephaly, Cortical dysplasia, Hypoplasia of the corpus c...	OMIM:100300
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Death in infancy, Cerebellar vermis hypoplasia, Anteverted nares, Microcephaly, Hypertelorism, Pa...	OMIM:220111
Incontinentia Pigmenti	Hypoplasia of the fovea, Delayed eruption of teeth, Supernumerary nipple, Microcephaly, Breast ap...	OMIM:308300
Alagille Syndrome 1	Depressed nasal bridge, Hypertelorism, Long nose, Bulbous nose, Deeply set eye, Concave nasal rid...	OMIM:118450
Primary Ciliary Dyskinesia	Nasal polyposis, Hydrocephalus, Nasal congestion, Chronic rhinitis, Conductive hearing impairment...	ORPHA:244
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Low-set ears, Depressed nasal bridge, Anteverted nares, Short nose	ORPHA:314655
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Hypertelorism, Macrotia, Sensorineural hearing impairment, Protruding ear, Deeply set eye, Retina...	ORPHA:500095
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Wide nose, Anteverted nares, Thyroid carcinoma, Macrocephaly, Sho...	ORPHA:109
Opsismodysplasia	Short nose, Depressed nasal bridge, Macrocephaly	ORPHA:2746
Intellectual Developmental Disorder, Autosomal Dominant 54	Deeply set eye, Delayed eruption of primary teeth, Microcephaly	OMIM:617799
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Relative macrocephaly, Depressed nasal bridge, Anteverted nares, Hypertelorism, Bulbous nose, Con...	OMIM:271510
Thauvin-Robinet-Faivre Syndrome	Hypertelorism, Sensorineural hearing impairment, Protruding ear, Coloboma, Deeply set eye, Retina...	OMIM:617107
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Optic disc coloboma, Coloboma, Chorioretinal coloboma, Microphthalmia, Iri...	ORPHA:959
Roberts Syndrome	Underdeveloped nasal alae, Hypertelorism, Cryptorchidism, Microcephaly, External ear malformation...	ORPHA:3103
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, Dy...	ORPHA:466791
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microcephaly, Hypertelorism, Cryptorchidism, Cupped ear, Wide nasal bridge, Overfolded helix, Mic...	OMIM:609945
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Cryptorchidism, Low insertio...	OMIM:619005
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Hypertelorism, Sensorineural hearing impairment, Narrow naris, Short nose	OMIM:122880
Incontinentia Pigmenti	Delayed eruption of teeth, Supernumerary nipple, Umbilical hernia, Microphthalmia, Spina bifida o...	ORPHA:464
Nicolaides-Baraitser Syndrome	Narrow nasal bridge, Anteverted nares, Posteriorly rotated ears, Microcephaly, Cryptorchidism, Bu...	OMIM:601358
Autosomal Dominant Kenny-Caffey Syndrome	Persistence of primary teeth, Basal ganglia calcification, Bilateral microphthalmos, Congenital h...	ORPHA:93325
Heterotaxy, Visceral, 2, Autosomal	Agenesis of corpus callosum, Microcephaly	OMIM:605376
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hydrocephalus, Cerebral calcification, Optic atrophy, Short nose	ORPHA:505248
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Depressed nasal bridge, Microcephaly, Cryptorchidism, Depressed nasal tip, Microtia, Low-set ears...	OMIM:620005
Right Atrial Isomerism	Agenesis of corpus callosum	OMIM:208530
Loeys-Dietz Syndrome 4	Deeply set eye, Hypertelorism	OMIM:614816
Fanconi Anemia, Complementation Group E	Microphthalmia, Cryptorchidism, Hypergonadotropic hypogonadism, Microcephaly	OMIM:600901
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Agenesis of corpus callosum	OMIM:613091
Xq21 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi...	ORPHA:1435
Mandibuloacral Dysplasia With Type B Lipodystrophy	Short nose, Proptosis, Convex nasal ridge, Delayed puberty	ORPHA:90154
Neonatal Marfan Syndrome	Wide nasal bridge, Deeply set eye, Low-set ears, Crumpled ear, Decreased testicular size	ORPHA:284979
Hereditary Sensory And Autonomic Neuropathy Type 5	Deeply set eye	ORPHA:64752
Townes-Brocks Syndrome	External ear malformation, Cryptorchidism, Agenesis of corpus callosum, Abnormal tragus morpholog...	ORPHA:857
Papillorenal Syndrome	Microphthalmia, Cataract, Lens luxation	OMIM:120330
Primrose Syndrome	Cerebral calcification, Diabetes mellitus, Hypergonadotropic hypogonadism, Anteverted nares, Depr...	OMIM:259050
Barth Syndrome	Deeply set eye, Macrotia	OMIM:302060
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res...	ORPHA:293978
Microphthalmia, Syndromic 1	Anophthalmia, Aganglionic megacolon, Abnormal pinna morphology, Microcephaly, Cryptorchidism, Opt...	OMIM:309800
Autosomal Dominant Robinow Syndrome	Wide nose, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Hypertelorism, Cry...	ORPHA:3107
Fanconi Anemia, Complementation Group A	Microphthalmia, Cryptorchidism, Hypergonadotropic hypogonadism, Microcephaly	OMIM:227650
Specc1L-Related Hypertelorism Syndrome	Prominent nasal bridge, Hypertelorism, Cryptorchidism, Wide nasal bridge, Proptosis, Low-set ears...	ORPHA:1519
Intrahepatic Cholestasis Of Pregnancy	Abnormal pineal melatonin secretion, Hypothyroidism	ORPHA:69665
Aceruloplasminemia	Diabetes mellitus, Abnormal pancreas morphology, Abnormal thalamic MRI signal intensity, Abnormal...	ORPHA:48818
Fraser Syndrome 2	Wide nose, Underdeveloped nasal alae, Hypoplasia of the thymus, Atresia of the external auditory ...	OMIM:617666
Floating-Harbor Syndrome	Posteriorly rotated ears, Prominent nasal bridge, Prominent nose, Underdeveloped nasal alae, Cryp...	OMIM:136140
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal opacity, Hydrocephalus, Polycoria, Developmental cataract, Microcornea, Hypoplasia of the...	OMIM:175780
Acrocephalopolydactylous Dysplasia	Abnormal pinna morphology, Pancreatic fibrosis, Hypertelorism, Low-set ears, Short nose	OMIM:200995
Lipoid Proteinosis	Nasal polyposis, Cerebral calcification	ORPHA:530
Floating-Harbor Syndrome	Narrow nasal bridge, Broad nasal tip, Precocious puberty, Cryptorchidism, Long nose, Persistence ...	ORPHA:2044
Spondylometaphyseal Dysplasia, Sedaghatian Type	Pachygyria, Agenesis of corpus callosum, Cerebellar hypoplasia	ORPHA:93317
Cat Eye Syndrome	Hypertelorism, Umbilical hernia, Chorioretinal coloboma, Low-set ears, Microphthalmia, Iris colob...	OMIM:115470
Magel2-Related Prader-Willi-Like Syndrome	Premature pubarche, Precocious puberty, Cryptorchidism, Absence of pubertal development, Central ...	ORPHA:398069
Asthma, Nasal Polyps, And Aspirin Intolerance	Nasal polyposis	OMIM:208550
Blomstrand Lethal Chondrodysplasia	Natal tooth, Depressed nasal bridge, Anteverted nares, Proptosis, Low-set ears, Short nose	ORPHA:50945
Mismatch Repair Cancer Syndrome 1	Agenesis of corpus callosum	OMIM:276300
Faciodigitogenital Syndrome, Autosomal Recessive	Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Hypertelorism, Cryptorchidism...	OMIM:227330
C Syndrome	Low-set, posteriorly rotated ears, Death in infancy, Anteverted nares, Depressed nasal bridge, Mi...	ORPHA:1308
Noonan Syndrome 3	Hypoplastic nasal bridge, Anteverted nares, Posteriorly rotated ears, Hypertelorism, Cryptorchidi...	OMIM:609942
Robinow Syndrome, Autosomal Dominant 1	Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Pe...	OMIM:180700
Trichorhinophalangeal Syndrome, Type Ii	Prominent nose, Bilateral cryptorchidism, Microcephaly, Bulbous nose, Recurrent upper respiratory...	OMIM:150230
Fanconi Anemia, Complementation Group C	Microphthalmia, Cryptorchidism, Hypergonadotropic hypogonadism, Microcephaly	OMIM:227645
Ciliary Dyskinesia, Primary, 42	Recurrent sinusitis, Nasal polyposis, Chronic rhinitis	OMIM:618695
17Q11 Microdeletion Syndrome	Depressed nasal bridge, Hypertelorism, Precocious puberty, Glomus jugular tumor, Deeply set eye, ...	ORPHA:97685
Phocomelia, Schinzel Type	Cryptorchidism, Short nose, Meningocele, Protruding ear	ORPHA:2879
Rajab Interstitial Lung Disease With Brain Calcifications 1	Cerebral calcification, Microcephaly, Cerebral atrophy, Hypotelorism, Deeply set eye, Bile duct p...	OMIM:613658
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Cryptorchidism, Sensorineural hearing impairment, Agenesis of corpus callosum	OMIM:618748
Ciliary Dyskinesia, Primary, 19	Rhinitis, Nasal polyposis, Recurrent sinusitis, Absent inner and outer dynein arms	OMIM:614935
Yunis-Varon Syndrome	Cerebellar vermis hypoplasia, Absent nipple, Anteverted nares, Microcephaly, Hypertelorism, Crypt...	OMIM:216340
Cholera	Deeply set eye, Miscarriage	ORPHA:173
Peutz-Jeghers Syndrome	Pancreatic adenocarcinoma, Nasal polyposis, Neoplasm of the nose, Abnormality of the nose, Enlarg...	ORPHA:2869
Immunodeficiency 13	Recurrent sinusitis, Nasal polyposis, Recurrent upper respiratory tract infections	OMIM:615518
Ciliary Dyskinesia, Primary, 2	Nasal polyposis, Hearing impairment, Absent inner and outer dynein arms	OMIM:606763
Ciliary Dyskinesia With Defective Radial Spokes	Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis	OMIM:242670
Arterial Tortuosity Syndrome	Hypertelorism, Short nose, Macrotia, Macrocephaly	ORPHA:3342
Acute Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal thalamic MRI signal intensity, Abnormal auditory evoke...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal thalamic MRI signal intensity, Abnormal auditory evoke...	ORPHA:529808
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Abnormal thalamic MRI signal intensity, Bilateral sensorineural hearing impairment	ORPHA:70595
Ciliary Dyskinesia, Primary, 22	Nasal polyposis, Rhinitis, Recurrent sinusitis, Absent inner and outer dynein arms	OMIM:615444
Coffin-Lowry Syndrome	Wide nose, Anteverted nares, Microcephaly, Hypertelorism, Sensorineural hearing impairment, Thick...	OMIM:303600
Cornelia De Lange Syndrome	Delayed eruption of teeth, Low-set, posteriorly rotated ears, Anteverted nares, Choanal atresia, ...	ORPHA:199
Ciliary Dyskinesia, Primary, 30	Nasal congestion, Absent outer dynein arms, Nasal polyposis	OMIM:616037
Aprosencephaly And Cerebellar Dysgenesis	Aprosencephaly	OMIM:601374
Spondylocarpotarsal Synostosis Syndrome	Mixed hearing impairment, Anteverted nares, Hypertelorism, Broad nasal tip, Sensorineural hearing...	OMIM:272460
Dend Syndrome	Short nose, Anteverted nares, Thickened ears	ORPHA:79134
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Short nose, Epistaxis	OMIM:277450
Autoimmune Polyendocrinopathy Type 3	Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Primary adrenal insufficiency, Thy...	ORPHA:227982
Ciliary Dyskinesia, Primary, 5	Recurrent sinusitis, Nasal polyposis, Chronic rhinitis	OMIM:608647
Williams Syndrome	Protruding ear, Abnormality of the diencephalon, Spina bifida occulta, Hypothyroidism, Low-set, p...	ORPHA:904
Autosomal Recessive Faciodigitogenital Syndrome	Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Hypertelorism, Overfolded hel...	ORPHA:1974
Ciliary Dyskinesia, Primary, 35	Nasal polyposis, Chronic rhinitis	OMIM:617092
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Nasal polyposis, Recurrent sinusitis	OMIM:620197
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Prominent nasal tip, Short nose, Hemiballismus	ORPHA:522077
Autoimmune Polyendocrinopathy Type 4	Hypergonadotropic hypogonadism, Primary adrenal insufficiency, Anterior pituitary dysgenesis, Thy...	ORPHA:227990
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Iris atrophy, Phthisis bulbi, Cataract	OMIM:259770
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Small earlobe, Anteverted nares, Posteriorly rotated ears, Microcephaly, Long nose, Cryptorchidis...	OMIM:619522
Ciliary Dyskinesia, Primary, 15	Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis	OMIM:613808
Peroxisome Biogenesis Disorder 12A (Zellweger)	Scaphocephaly, Cranial asymmetry	OMIM:614886
Sponastrime Dysplasia	Relative macrocephaly, Aplasia of the nasal bone, Wide nose, Anteverted nares, Depressed nasal br...	ORPHA:93357
Bare Lymphocyte Syndrome, Type I	Nasal polyposis	OMIM:604571
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hypertelorism, Deeply set eye, Low-set ears, Neonatal death, Annular pancreas	OMIM:265380
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Cerebellar vermis hypoplasia, Posteriorly rotated ears, Optic nerve hypoplasia, Microcephaly, Bro...	OMIM:620330
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent nipple, Depressed nasal bridge, Underdeveloped nasal alae, Aplasia/Hypoplastia of the eccr...	OMIM:305100
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Thalamic hemorrhage, Cerebral calcification, Abnormal basal ganglia morphology	ORPHA:464321
Microcephaly 29, Primary, Autosomal Recessive	Deeply set eye, Simplified gyral pattern, Primary microcephaly	OMIM:620047
Viss Syndrome	Depressed nasal bridge, Prominent nasal bridge, Posteriorly rotated ears, Microcephaly, Hypertelo...	OMIM:619472
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Posteriorly rotated ears, Hypertelorism, Cryptorchidism, Protruding ear, Short columella, Low-set...	OMIM:601776
Fibromuscular Dysplasia, Multifocal	Deeply set eye, Narrow nose	OMIM:619329
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Absent septum pellucidum, Abnormality of the endocrine system, Cryptorchidism, Precocious puberty...	ORPHA:438213
Schimmelpenning-Feuerstein-Mims Syndrome	Abnormality of dental color, Cranial asymmetry	OMIM:163200
Marfan Syndrome	Hypoplasia of the iris, Deeply set eye, Microspherophakia, Increased axial length of the globe	OMIM:154700
Stickler Syndrome	Anteverted nares, Depressed nasal bridge, Hypertelorism, Sensorineural hearing impairment, Depres...	ORPHA:828
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Depressed nasal bridge, Hypertelorism, Depressed nasal ridge, Concave nasal ridge, Proptosis, Cal...	OMIM:271665
Arthrogryposis, Distal, Type 4	Cranial asymmetry	OMIM:609128
Geleophysic Dysplasia 2	Short nose, Hypertelorism	OMIM:614185
Bickerstaff Brainstem Encephalitis	Decreased motor nerve conduction velocity, Facial palsy, Abnormal thalamic MRI signal intensity, ...	ORPHA:79138
Acromesomelic Dysplasia 1	Short nose	OMIM:602875
Geleophysic Dysplasia 1	Thickened helices, Short nose, Anteverted nares	OMIM:231050
Pallister-Killian Syndrome	Relative macrocephaly, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Super...	OMIM:601803
Igg4-Related Ophthalmic Disease	Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Thyroiditis, Sialadenitis	ORPHA:449563
Omodysplasia 1	Depressed nasal bridge, Cryptorchidism, Wide nasal bridge, Umbilical hernia, Short nose	OMIM:258315
Eosinophilic Granulomatosis With Polyangiitis	Nasal polyposis	ORPHA:183
Benign Schwannoma	Nasal polyposis, Facial palsy, Abnormality of the twelfth cranial nerve, Vestibular schwannoma, A...	ORPHA:252164
Neutral Lipid Storage Myopathy	Sensorineural hearing impairment, Diabetes mellitus, Pineal cyst	ORPHA:98908
Williams-Beuren Syndrome	Diabetes mellitus, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Sensorineural heari...	OMIM:194050
Lowe Oculocerebrorenal Syndrome	Microphthalmia, Cryptorchidism, Periventricular cysts	OMIM:309000
Treacher Collins Syndrome 1	Choanal atresia, Cryptorchidism, Bilateral microphthalmos, Microtia, Abnormal parotid gland morph...	OMIM:154500
Femoral-Facial Syndrome	Abnormal pinna morphology, Maternal diabetes, Underdeveloped nasal alae, Cryptorchidism, Low-set ...	OMIM:134780
Aspartylglucosaminuria	Hypertelorism, Wide nasal bridge, Microtia, Macroorchidism, Umbilical hernia, Short nose	ORPHA:93
Vascular Ehlers-Danlos Syndrome	Narrow nasal bridge, Hypertelorism, Cryptorchidism, Aplasia/Hypoplasia of the earlobes, Protrudin...	ORPHA:286
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Narrow nasal ridge, Low-set ears, Type I diabetes mellitus, Short nose, ...	OMIM:606721
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Ovarian cyst, Nasal polyposis, Precocious puberty with Sertoli cell tumor	OMIM:175200
Kallmann Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi...	ORPHA:478
Igg4-Related Kidney Disease	Sialadenitis, Abnormality of the anterior pituitary, Thyroiditis	ORPHA:449395
Granulomatosis With Polyangiitis	Concave nasal ridge, Nasal mucosa vasculitis	OMIM:608710
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Penile Agenesis	Posteriorly rotated ears, Depressed nasal bridge, Maternal diabetes, Cryptorchidism, Short nose	ORPHA:49
Sarcoidosis	Abnormal nasal mucosa morphology, Hyperthyroidism, Diabetes insipidus, Facial palsy, Enlarged lac...	ORPHA:797
Cystic Fibrosis	Nasal polyposis, Hearing impairment	ORPHA:586
Cystic Fibrosis	Nasal polyposis	OMIM:219700

Histopathology

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

There is no histopathology data for Hesx1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hesx1.

No publications found that use IMPC mice or data for Hesx1.

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MGI Allele	Allele Type	Produced
Hesx1^em1(IMPC)J	Exon Deletion	Mice
Hesx1^{tm220947(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Hesx1 MGI:96071

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Gross Morphology Embryo E18.5

X-ray

Electroretinography 3

X-ray

Eye Morphology

X-ray

MicroCT E18.5

X-ray

Gross Morphology Placenta E18.5

Auditory Brain Stem Response

Electrocardiogram (ECG)

Human diseases caused by Hesx1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data