Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal facial morphology Hesx1em1(IMPC)J HOM E18.5 0.00
abnormal head shape Hesx1em1(IMPC)J HOM E18.5 0.00
anophthalmia Hesx1em1(IMPC)J HOM E18.5 0.00
preweaning lethality, complete penetrance Hesx1em1(IMPC)J HOM   Early adult 0.00
cleft palate Hesx1em1(IMPC)J HOM E18.5 0.00
facial cleft Hesx1em1(IMPC)J HOM E18.5 0.00
decreased body length Hesx1em1(IMPC)J HET Early adult 1.85×10-24

Download data as:  TSV  XLS

Select physiological systems to view:
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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.

Electrocardiogram (ECG)

Waveform Image

15 Images

Gross Morphology Placenta E18.5

Images

2 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

X-ray

XRay Images Forepaw

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

Gross Morphology Embryo E18.5

Images

4 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Hesx1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Microphthalmia, Anophthalmia, Holoprosencephaly, Iris coloboma, Bilateral... OMIM:611638
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microcoria, Microphthalmia, Iris coloboma OMIM:616428
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Microphthalmia, Isolated, With Coloboma 7
Coloboma, Microphthalmia OMIM:614497
Fryns Microphthalmia Syndrome
Bilateral cleft lip and palate, Microphthalmia, Facial cleft, Anophthalmia OMIM:600776
Thyroid Hormone Metabolism, Abnormal
Elevated circulating thyroid-stimulating hormone concentration OMIM:609698
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Microphthalmia, Isolated 3
Sclerocornea, Anophthalmia, Microphthalmia OMIM:611038
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Cortical dysplasia, Polymicrogyria, Microcephaly OMIM:615771
Microphthalmia, Isolated, With Coloboma 4
Coloboma, Microphthalmia OMIM:251505
Facial Clefting, Oblique, 1
Cleft upper lip, Cleft palate, Facial cleft OMIM:600251
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Absent hippocampal commissure, Abnormality of the anterior commissure, Hydrocephalus, Fusion of t... OMIM:617542
Frontonasal Dysplasia 3
Microphthalmia, Cleft palate, Facial cleft, Brachycephaly OMIM:613456
Microphthalmia, Isolated, With Coloboma 6
Coloboma, Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea OMIM:613703
Pituitary Adenoma 5, Multiple Types
Pituitary adenoma OMIM:617540
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Combined Pituitary Hormone Deficiencies, Genetic Forms
Abnormal prolactin level, Agenesis of corpus callosum, Septo-optic dysplasia, Holoprosencephaly, ... ORPHA:95494
Schizencephaly
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy OMIM:269160
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Prominent nose, Absent septum pellucidum, Simplified gyral pattern, Hypoplasia of the brainstem, ... OMIM:618492
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Microcephaly OMIM:616335
Nanophthalmos 4
Microphthalmia OMIM:615972
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
High, narrow palate, Brachyturricephaly, Cleft palate, Facial cleft, Cleft upper lip, Optic nerve... OMIM:607597
Gombo Syndrome
Microphthalmia, Microcephaly OMIM:233270
Cerebrooculonasal Syndrome
Widely spaced teeth, High palate, Facial cleft, Microdontia, U-Shaped upper lip vermilion, Long p... ORPHA:66625
Solitary Median Maxillary Central Incisor
Anterior hypopituitarism, Midnasal stenosis, Microphthalmia, Holoprosencephaly, Anophthalmia, Cyc... OMIM:147250
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... ORPHA:500166
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Polymicrogyria, Hydrocephalu... OMIM:604213
Congenital Varicella Syndrome
Microcephaly, Microphthalmia, Cataract, Cerebral cortical atrophy ORPHA:291
Anencephaly 2
Anophthalmia, Anencephaly OMIM:619452
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Microphthalmia, Isolated 4
Coloboma, Microphthalmia OMIM:613094
Mental Retardation, Autosomal Dominant 22
Depressed nasal bridge, Hypertelorism, Abnormality of the pinna, Agenesis of corpus callosum, Mic... OMIM:612337
Non-Acquired Panhypopituitarism
Abnormal prolactin level, Hypogonadotropic hypogonadism, Pituitary hypothyroidism, Decreased circ... ORPHA:90695
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Simplified gyral pattern, Hearing impairment, Proptosis, Cerebellar hypopl... OMIM:608716
Cataract 11, Multiple Types
Microphthalmia, Cataract OMIM:610623
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Unilateral polymicrogyria, Lissencephaly, Pachygyria, Cerebellar hypoplasia, Hypoplasia of the co... OMIM:610031
3Q13 Microdeletion Syndrome
Hypertelorism, Wide nasal bridge, Macrocephaly, Anteverted nares, Cryptorchidism, Agenesis of cor... ORPHA:1621
Microcephaly 17, Primary, Autosomal Recessive
Microlissencephaly, Hypertelorism, Macrotia, Simplified gyral pattern, Hypoplasia of the brainste... OMIM:617090
Anophthalmia Plus Syndrome
Bilateral cleft lip and palate, Cleft palate, Facial cleft, Anophthalmia, Non-midline cleft lip ORPHA:1104
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Cryptorchidism, Hypoplasia of the corpus callosum, Agenesis of corp... OMIM:164180
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Microphthalmia, Cerebral atrophy, Coloboma, Agenesis of corpus callosum, Microcephaly OMIM:274270
Cataract 9, Multiple Types
Developmental cataract, Microphthalmia, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Warburg Micro Syndrome 1
Optic atrophy, Perisylvian polymicrogyria, Microphthalmia, Macrotia, Wide nasal bridge, Deeply se... OMIM:600118
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Optic atrophy, Death in infancy, Depressed nasal bridge, Frontal cortical atrophy, Bulbous nose, ... OMIM:618766
Microcephaly 13, Primary, Autosomal Recessive
Partial agenesis of the corpus callosum, Prominent nose, Simplified gyral pattern, Cerebellar hyp... OMIM:616051
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Dysplastic corpus callosum OMIM:613162
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Lissencephaly, Hypoplasia of the brainstem, Polymicrogyria, Hypoplasia of the corpus callosum, Co... OMIM:614039
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Hypertelorism, Wide nasal bridge, Macrocephaly, Cerebral atrophy, Hypoplasia of the corpus callos... ORPHA:166024
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity, Microphthalmia ORPHA:2432
Cerebrooculofacioskeletal Syndrome 2
Large beaked nose, Convex nasal ridge, Death in infancy, Microphthalmia, Hearing impairment, Micr... OMIM:610756
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Prominent nasal bridge, Deeply set eye, Sensorineural hearing impairment, Cerebel... OMIM:214150
Lissencephaly 4
Simplified gyral pattern, Cerebellar hypoplasia, Lissencephaly, Agenesis of corpus callosum, Micr... OMIM:614019
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Optic atrophy, Perisylvian polymicrogyria, Microphthal... OMIM:615663
Band Heterotopia
Subcortical band heterotopia, Macrocephaly, Polymicrogyria, Hydrocephalus, Agenesis of corpus cal... OMIM:600348
Syngnathia
Cleft palate OMIM:119550
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Pituitary hypothyroidism, Recurrent upper respiratory tract inf... OMIM:614963
Mental Retardation, Autosomal Dominant 47
Prominent nasal bridge, Microcephaly, Cerebral atrophy, Cryptorchidism, Deeply set eye OMIM:617635
Corpus Callosum, Agenesis Of
Macrocephaly, Agenesis of corpus callosum, Microcephaly OMIM:217990
Pettigrew Syndrome
Dandy-Walker malformation, Prominent nose, High-frequency hearing impairment, Sensorineural heari... OMIM:304340
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Large earlobe, Broad nasal tip, Sensorineural hearing impairment, Hypoplasia of the corpus callos... OMIM:612948
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Microphthalmia, Agenesis of corpus callosum OMIM:614402
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Large earlobe, Dandy-Walker malformation, Hypertelorism, Bulbous nose, Hypoplasia of the corpus c... ORPHA:262767
Developmental And Epileptic Encephalopathy 88
Partial agenesis of the corpus callosum, Depressed nasal bridge, Hypoplasia of the pons, Inferior... OMIM:618959
Lissencephaly 3
Lissencephaly, Pachygyria, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Polymicrogy... OMIM:611603
Sub-Cortical Nodular Heterotopia
Abnormal cerebral cortex morphology, Polymicrogyria, Abnormality of the basal ganglia, Hypoplasia... ORPHA:101029
Forsythe-Wakeling Syndrome
Macrotia, Prominent nasal bridge, Microcephaly, Deeply set eye OMIM:613606
Chromosome 1Q41-Q42 Deletion Syndrome
Depressed nasal bridge, Microphthalmia, Holoprosencephaly, Hypotelorism, Deeply set eye, Microtia... OMIM:612530
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Type II lissencephaly, Hydrocephalus OMIM:614830
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Prominent nose, Optic atrophy, Optic disc pallor, Microphthalmia, Simplified gyral pattern, Propt... OMIM:616171
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Optic nerve hypoplasia, Polymicrogyria, Agenesis of cor... ORPHA:250972
Oculomaxillofacial Dysostosis
Cleft palate, Facial cleft, Abnormality of the dentition, Median cleft lip, Aplasia/Hypoplasia af... ORPHA:1794
Pontocerebellar Hypoplasia, Type 6
Death in childhood, Prominent nasal bridge, Deeply set eye, Progressive microcephaly, Cerebellar ... OMIM:611523
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract, Microcephaly OMIM:278780
Hydrolethalus
Arrhinencephaly, Microphthalmia, Anencephaly, Anophthalmia, Low-set, posteriorly rotated ears, Ab... ORPHA:2189
Craniotelencephalic Dysplasia
Optic atrophy, Arrhinencephaly, Microphthalmia, Septo-optic dysplasia, Low-set, posteriorly rotat... ORPHA:1528
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Large earlobe, Broad nasal tip, Anophthalmia, Hypoplasia of the pons, Prominent ear helix, Promin... ORPHA:411986
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary microcephaly ORPHA:171703
Frontonasal Dysplasia 1
Conductive hearing impairment, Broad nasal tip, Microphthalmia, Short columella, Hypertelorism, W... OMIM:136760
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Prominent nose, Temporal cortical atrophy, Partial absence of cerebellar vermis, Caudate atrophy,... ORPHA:137831
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Depressed nasal bridge, Hypertelorism, Posteriorly rotated ears, Interhypothalamic Adhesion, Deep... OMIM:618929
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Microcephaly OMIM:618276
Combined Oxidative Phosphorylation Deficiency 25
Depressed nasal bridge, Short nose, Hypertelorism, Wide nasal bridge, Cerebral atrophy, Anteverte... OMIM:616430
Craniotelencephalic Dysplasia
Arrhinencephaly, Microphthalmia, Optic nerve hypoplasia, Absent septum pellucidum, Lissencephaly,... OMIM:218670
Meckel Syndrome, Type 8
Depressed nasal ridge, Microphthalmia, Anophthalmia, Short nose, Microcephaly OMIM:613885
Adenylosuccinate Lyase Deficiency
Anteverted nares, Hypointensity of cerebral white matter on MRI, Short nose, Microcephaly ORPHA:46
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Cleft palate, Microphthalmia OMIM:221950
Cutis Laxa, Autosomal Recessive, Type Iib
Hypotelorism, Hypertelorism, Narrow nasal ridge, Deeply set eye, Bulbous nose, Hydrocephalus, Pro... OMIM:612940
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dysgenesis of the hippocampus, Polymicrogyria, Cerebellar hypoplasia, Abnormality of thalamus mor... ORPHA:300570
Alazami Syndrome
Depressed nasal bridge, Wide nose, Wide nasal bridge, Deeply set eye, Microcephaly OMIM:615071
Autosomal Recessive Spastic Paraplegia Type 69
Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of corpus callosum, Cerebral cortical atrop... ORPHA:401830
Lissencephaly, X-Linked, 1
Death in infancy, Pachygyria, Agyria, Lissencephaly, Agenesis of corpus callosum OMIM:300067
Frontofacionasal Dysplasia
Cleft palate, Facial cleft, Microphthalmia, Brachycephaly, Non-midline cleft lip, Midface retrusion ORPHA:1791
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Chorioretinal coloboma, Posteriorly rotated ears, Aplasia/Hypoplasia of the cerebellar vermis, Ma... OMIM:300864
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Perisylvian polymicrogyria, Hypertelorism, Prominent nasal bridge, Deeply set eye, Cerebellar hyp... OMIM:618443
Septooptic Dysplasia
Diabetes insipidus, Optic disc hypoplasia, Optic nerve hypoplasia, Absent septum pellucidum, Ante... OMIM:182230
Acrofacial Dysostosis, Weyers Type
Hypodontia, Facial cleft, Solitary median maxillary central incisor, Advanced eruption of teeth, ... ORPHA:952
X-Linked Neurodegenerative Syndrome, Bertini Type
Death in infancy, Agenesis of corpus callosum ORPHA:85334
Diabetes Insipidus, Neurohypophyseal
Wide nose, Short nose, Hypertelorism, Central diabetes insipidus, Decreased circulating osteocalc... OMIM:125700
Non-Distal Trisomy 10Q
Convex nasal ridge, Depressed nasal bridge, Short nose, Low-set, posteriorly rotated ears, Hypert... ORPHA:1695
Congenital Primary Aphakia
Sclerocornea, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, M... ORPHA:83461
Cofs Syndrome
Optic atrophy, Death in infancy, Microphthalmia, Wide nasal bridge, Hypogonadism, Sensorineural h... ORPHA:1466
Craniopharyngioma
Optic atrophy, Central adrenal insufficiency, Enlarged pituitary gland, Type II diabetes mellitus... ORPHA:54595
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 level, D... ORPHA:171706
Intellectual Developmental Disorder, Autosomal Recessive 39
Prominent nose, Macrotia, Microcephaly, Deeply set eye OMIM:615541
Autosomal Recessive Spastic Paraplegia Type 67
Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of corpus callosum, Cerebral cortical atrophy ORPHA:401820
Microphthalmia, Syndromic 12
Anophthalmia, Cryptorchidism, Microphthalmia OMIM:615524
Pyruvate Dehydrogenase E1-Alpha Deficiency
Flared nostrils, Wide nasal bridge, Basal ganglia cysts, Cerebral atrophy, Anteverted nares, Agen... OMIM:312170
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Short nose, Hypertelorism, Wide nasal bridge, Hydrocephalus, Proptosis, Anteverted nares, Cryptor... OMIM:618577
Biemond Syndrome Type 2
Coloboma, Microphthalmia, Hydrocephalus ORPHA:141333
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Anteverted nares, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Deeply set eye OMIM:618859
Masa Syndrome
Macrocephaly, Hydrocephalus, Agenesis of corpus callosum, Microcephaly OMIM:303350
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Microphthalmia, Cataract, Microcephaly ORPHA:2528
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum, Anterior hypopituitarism OMIM:601016
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea, Posterior embryotoxon OMIM:609218
Microcephaly 16, Primary, Autosomal Recessive
Microcephaly, Cryptorchidism, Agenesis of corpus callosum, Simplified gyral pattern OMIM:616681
Holoprosencephaly 7
Short nose, Macrotia, Hypotelorism, Iris coloboma, Flat nasal alae, Macrocephaly, Panhypopituitar... OMIM:610828
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment, Partial agenesis of the corpus callosum, Hypoplastic hippocampus, ... ORPHA:85179
17Q21.31 Microduplication Syndrome
Anteverted nares, Short nose, Delayed puberty, Microcephaly ORPHA:217340
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Hypertelorism, Wide nasal bridge, Macrocephaly, Hydrocephalus, Agenesis of corp... ORPHA:380
Pierpont Syndrome
Abnormal cortical gyration, Microphthalmia, Wide nasal ridge, Macrotia, Posteriorly rotated ears,... ORPHA:487825
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Microcephaly OMIM:616570
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Optic atrophy, Hypoplasia of the pons, Hearing impairment, Microcephaly, Agenesis of corpus callo... OMIM:617669
Triopia
Cleft palate, Frontal bossing, Abnormality of the fontanelles or cranial sutures, Midline facial ... ORPHA:3374
Pierpont Syndrome
Broad nasal tip, Microphthalmia, Large fleshy ears, Wide nose, Short nose, Hypertelorism, Posteri... OMIM:602342
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Abnormality of the diencephalon, Holoprosencephaly, Deeply set eye, Microcephaly... ORPHA:2570
Ventriculomegaly And Arthrogryposis
Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:619501
Usmani-Riazuddin Syndrome, Autosomal Recessive
Hypertelorism, Posteriorly rotated ears, Agenesis of corpus callosum OMIM:619548
Pituicytoma
Increased circulating prolactin concentration, Hypogonadotropic hypogonadism, Pituitary hypothyro... ORPHA:251623
Nanophthalmos
Microphthalmia ORPHA:35612
Baraitser-Winter Syndrome 2
Microphthalmia, Hypertelorism, Abnormality of the pinna, Hearing impairment, Pachygyria, Coloboma... OMIM:614583
Mental Retardation Syndrome, Belgian Type
Wide nose, Cleft ala nasi, Diabetes mellitus, Hypergonadotropic hypogonadism, Coloboma, Deeply se... OMIM:249599
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Large earlobe, Progressive macrocephaly, Depressed nasal bridge, Megalencephaly, Microphthalmia, ... OMIM:602501
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Death in infancy, Simplified gyral pattern, Hypoplasia o... OMIM:619302
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Short nose, Hypertelorism, Abnormal cerebral white matter morphology, Ant... OMIM:613443
Intellectual Developmental Disorder, X-Linked 30
Short nose, Macrotia, Prominent nasal bridge, Deeply set eye, Hydrocephalus, Anteverted nares, Mi... OMIM:300558
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia, Abnormality of the hypothalamus-pituitary axis, Cryptorchidism, Age... ORPHA:139471
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Coloboma, Microphthalmia OMIM:120433
Walker-Warburg Syndrome
Abnormal cortical gyration, Optic atrophy, Dandy-Walker malformation, Protruding ear, Microphthal... ORPHA:899
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia, Sclerocornea, Cataract, Microcornea OMIM:269400
Dystonia 30
Hypothalamic hamartoma, Globus pallidus hypointensity on susceptibility-weighted imaging, Diffuse... OMIM:619291
Developmental And Epileptic Encephalopathy 73
Short nose, Sensorineural hearing impairment, Narrow nasal bridge, Hypoplasia of the corpus callo... OMIM:618379
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Sensorineural hearing impairment, Wide nasal bridge, Microcephaly, Deeply set eye OMIM:618342
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Schizencephaly, Hypoplasia of the pons, Dysgenesis of the basal gangl... ORPHA:300573
Pierre Robin Sequence With Facial And Digital Anomalies
Frontal bossing, Cleft palate, Pierre-Robin sequence, Glossoptosis OMIM:311895
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Lissencephaly, Sensorineural hearing impairment, Abnormally large globe, Progress... OMIM:615249
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia OMIM:606713
O'Donnell-Luria-Rodan Syndrome
Abnormal corpus callosum morphology, Macrocephaly, Abnormal cerebral white matter morphology, Cry... OMIM:618512
Masa Syndrome
Agenesis of corpus callosum ORPHA:2466
5Q14.3 Microdeletion Syndrome
Agenesis of cerebellar vermis, Optic nerve hypoplasia, Short nose, Frontal cortical atrophy, Ante... ORPHA:228384
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Dysplastic corpus callosum, Prominent nasal bridge, Cerebellar vermis hypoplasia, Bulbous nose, S... OMIM:616900
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Imagawa-Matsumoto Syndrome
Umbilical hernia, Wide nasal ridge, Hypertelorism, Macrocephaly, Polymicrogyria, Cryptorchidism, ... OMIM:618786
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft lip and palate, Facial cleft, Cleft upper lip OMIM:601357
Adams-Oliver Syndrome 2
Optic atrophy, Depressed nasal bridge, Microphthalmia, Hypertelorism, Bulbous nose, Polymicrogyri... OMIM:614219
Holoprosencephaly 5
Depressed nasal bridge, Lobar holoprosencephaly, Holoprosencephaly, Hypotelorism, Macrotia, Hyper... OMIM:609637
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Depressed nasal bridge, Macrotia, Bulbous nose, Cerebral atrophy, Anteverted nares, Deeply set eye OMIM:617268
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Coloboma, Type II lissencephaly, Microphthalmia, Hydrocephalus ORPHA:324416
Cubitus Valgus With Mental Retardation And Unusual Facies
Microcephaly, Deeply set eye OMIM:300471
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Remnants of the hyal... ORPHA:231736
Microphthalmia, Syndromic 3
Microphthalmia, Hypothalamic hamartoma, Anophthalmia, Hypogonadotropic hypogonadism, Optic nerve ... OMIM:206900
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, Facial cleft, Cleft palate, Narrow mouth OMIM:239800
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Broad nasal tip, Depressed nasal bridge, Hearing impairment, Deeply set eye, Bulbous nose, Anteve... ORPHA:480907
Fatty Acyl-Coa Reductase 1 Deficiency
Dandy-Walker malformation, Depressed nasal bridge, Short nose, Macrotia, Hypertelorism, Progressi... ORPHA:438178
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Hypertelorism, Hearing impairment, Abnormality of the pituitary... ORPHA:314621
Holoprosencephaly
Iris coloboma, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia of the cerebellum, Aplas... ORPHA:2162
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Periventricular cysts, Abnormal corpus callosum morphology, Abnormality of the basal ganglia, Hyp... ORPHA:255182
Baraitser-Winter Syndrome 1
Microphthalmia, Chorioretinal coloboma, Overfolded helix, Short nose, Hypertelorism, Wide nasal b... OMIM:243310
Orofaciodigital Syndrome Xv
Anteverted nares, Wide nasal bridge, Hypertelorism, Agenesis of corpus callosum OMIM:617127
Microform Holoprosencephaly
Maternal diabetes, Midnasal stenosis, Holoprosencephaly, Short nose, Cyclopia, Hypotelorism, Iris... ORPHA:280200
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Depressed nasal bridge, Agenesis of corpus... OMIM:615286
X-Linked Intellectual Disability, Schimke Type
Hearing impairment, Narrow nasal bridge, Secondary microcephaly, Cerebral cortical atrophy, Deepl... ORPHA:85285
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Depressed nasal ridge, Abnormality of the endocrine system, Hypertelorism, Thick corpus callosum,... ORPHA:464288
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland, Secondary microcephaly, Hypoplasia of the corpus callosum, Diffuse cerebra... OMIM:617395
Bowen Syndrome Of Multiple Malformations
Agenesis of corpus callosum, Death in childhood OMIM:211200
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Microphthalmia, Optic nerve hypoplasia, Polymicrogyria, Lissencephaly... OMIM:614833
Fetal Akinesia Syndrome, X-Linked
Stillbirth, Arrhinencephaly, Agenesis of corpus callosum OMIM:300073
Supernumerary Nostril
Facial cleft ORPHA:141096
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum OMIM:619101
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Microphthalmia, Hypoplasia of the pons, Death in childhood, Lissenceph... OMIM:613153
Combined Oxidative Phosphorylation Deficiency 50
Partial agenesis of the corpus callosum, Adrenal insufficiency, Microcephaly OMIM:619025
Peho-Like Syndrome
Optic atrophy, Short nose, Pachygyria, Progressive microcephaly, Hypoplasia of the corpus callosu... OMIM:617507
Microhydranencephaly
Hydranencephaly, Macrotia, Prominent nasal bridge, Pachygyria, Hypoplasia of the brainstem, Propt... OMIM:605013
Corpus Callosum, Partial Agenesis Of, X-Linked
Partial agenesis of the corpus callosum, Aganglionic megacolon, Inferior vermis hypoplasia, Hydro... OMIM:304100
Stromme Syndrome
Microphthalmia, Optic nerve hypoplasia, Short columella, Hypertelorism, Prominent nasal bridge, W... OMIM:243605
Hypothyroidism, Congenital, Nongoitrous, 8
Decreased circulating free T4 level, Central hypothyroidism, Inappropriately normal thyroid-stimu... OMIM:301033
Congenital Neuronal Ceroid Lipofuscinosis
Wide nasal bridge, Neuronal loss in the cerebral cortex, Pachygyria, Cerebellar hypoplasia, Cereb... ORPHA:168486
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dandy-Walker malformation, Chorioretinal coloboma, Abnormal cerebral cortex morphology, Agenesis ... ORPHA:163961
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Underdeveloped nasal alae, Wide nose, Abnormal nasal bone morphology, Hypertelorism, Wide nasal b... ORPHA:521308
Acromelic Frontonasal Dysostosis
Broad nasal tip, Hypertelorism, Wide nasal bridge, Bifid nose, Hypopituitarism, Cryptorchidism, H... OMIM:603671
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Periventricular white matter hyperintensities, Postnatal macrocephaly, Deeply set eye, Microtia OMIM:618158
Temtamy Syndrome
Convex nasal ridge, Microphthalmia, Chorioretinal coloboma, Hypertelorism, Iris coloboma, Macroce... ORPHA:1777
Lissencephaly Syndrome, Norman-Roberts Type
Microlissencephaly, Wide nose, Hypertelorism, Wide nasal bridge, Primary microcephaly, 4-layered ... ORPHA:89844
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Sclerocornea, Anophthalmia, Cataract, Microcornea, Ectopia pupillae OMIM:615877
Joubert Syndrome 37
Microphthalmia, Wide nose, Hypertelorism, Posteriorly rotated ears, Wide nasal bridge, Cerebellar... OMIM:619185
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Wide nasal bridge, Hypertelorism, Microphthalmia, Agenesis of corpus callosum ORPHA:93267
Holoprosencephaly 9
Abnormal cortical gyration, Partial agenesis of the corpus callosum, Depressed nasal bridge, Micr... OMIM:610829
Mental Retardation, X-Linked, With Craniofacial Dysmorphism
Plagiocephaly, Frontal bossing, Brachycephaly OMIM:300064
Hartsfield Syndrome
Depressed nasal bridge, Lobar holoprosencephaly, Microphthalmia, Hypertelorism, Low-set, posterio... ORPHA:2117
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia, Holoprosencephaly, Hydrocephalus, Cryptorchidism, Agenesis of corpu... ORPHA:77298
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Conductive hearing impairment, Depressed nasal ridge, Optic atrophy, Hypotelorism, Hypertelorism,... OMIM:618672
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Pallister-Hall-Like Syndrome
Death in infancy, Depressed nasal bridge, Hypothalamic hamartoma, Short nose, Macrocephaly, Hydro... OMIM:241800
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Optic atrophy, Microphthalmia, Annular pancreas, Hypoplasia of the pons, Hypotelorism, Abnormalit... OMIM:616975
Christianson Syndrome
Macrotia, Abnormality of the nose, Microcephaly, Aplasia/Hypoplasia of the cerebellum, Deeply set... ORPHA:85278
Congenital Disorder Of Glycosylation, Type Iy
Hypoplasia of the corpus callosum, Macrotia, Microcephaly, Deeply set eye OMIM:300934
Mental Retardation, Buenos Aires Type
Partial agenesis of the corpus callosum, Prominent nose, Hypertelorism, Wide nasal bridge, Hydroc... OMIM:249630
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Abnormal cranial nerve morphology, Holoprosencephaly, Low-set, posteriorly rotated ears, Aplasia/... ORPHA:990
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Coloboma, Ectopic posterior... OMIM:610125
X-Linked Intellectual Disability, Cilliers Type
Macrotia, Prominent nasal bridge, Absence of secondary sex characteristics, Increased circulating... ORPHA:163971
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Small cerebral cortex, Optic nerve hypoplasia, Simplified gyral pattern, Microcep... OMIM:617914
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Short nose, Posteriorly rotated ears, Proptosis, Anteverted nares, Microce... ORPHA:1832
Al-Raqad Syndrome
Short nose, Microcephaly, Deeply set eye OMIM:616459
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Optic atrophy, Death in infancy, Short nose, Protruding ear, Hypoplasia of the corpus callosum, M... ORPHA:1495
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Diffuse white matter abnormalities, Microphthalmia, Hypoplasia of the pons, Optic ... ORPHA:370959
Mmep Syndrome
Cryptorchidism, Microphthalmia, Microcephaly ORPHA:3434
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Partial agenesis of the corpus callosum OMIM:233810
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Leukoencephalopathy, Prominent nasal bridge, Broad columella, Deeply set eye ORPHA:457365
Pontocerebellar Hypoplasia, Type 10
Underdeveloped nasal alae, Short nose, Wide nasal bridge, Simplified gyral pattern, Microcephaly,... OMIM:615803
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Depressed nasal bridge, Microphthalmia, Short nose, Hypertelorism, Bulbous nose, Hypoplasia of th... OMIM:614105
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Partial agenesis of the corpus callosum, Optic atrophy, Depressed nasal bridge, Proptosis, Microc... OMIM:618346
Desanto-Shinawi Syndrome
Depressed nasal bridge, Hypertelorism, Abnormality of the pinna, Posteriorly rotated ears, Hearin... OMIM:616708
6Q25 Microdeletion Syndrome
Hypertelorism, Low-set, posteriorly rotated ears, Abnormality of the pinna, Wide nasal bridge, Se... ORPHA:251056
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Microphthalmia, Iris coloboma OMIM:610023
Cerebrooculonasal Syndrome
Anophthalmia, Short nose, Hypertelorism, Posteriorly rotated ears, Proboscis, Prominent nasal bri... OMIM:605627
Gaba-Transaminase Deficiency
Agenesis of corpus callosum, Cerebellar hypoplasia, Death in childhood OMIM:613163
Microphthalmia, Syndromic 13
Coloboma, Microphthalmia, Microcephaly OMIM:300915
Pontocerebellar Hypoplasia, Type 14
Death in infancy, Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brainstem, ... OMIM:619301
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Posteriorly rotated ears, Hearing impairment, Low hanging columella, Cerebellar vermis hypoplasia... OMIM:618494
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Optic nerve hypoplasia, Short nose, Prominent nasal bridge, Simplified gy... OMIM:618828
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Hypertelorism, Macrocephaly, Agenesis of corpus callosum ORPHA:459074
Glycine Encephalopathy
Death in infancy, Agenesis of corpus callosum OMIM:605899
Trisomy 1Q
Depressed nasal bridge, Anophthalmia, Wide nose, Hypotelorism, Hypertelorism, Macrocephaly, Hydro... ORPHA:261344
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hydrocephalus, Cataract OMIM:601794
Williams-Beuren Region Duplication Syndrome
Broad nasal tip, Overfolded helix, Cerebellar vermis hypoplasia, Macrocephaly, Hydrocephalus, Cry... OMIM:609757
17P13.3 Microduplication Syndrome
Short nose, Wide nose, Hypoplasia of the corpus callosum, Hypertelorism ORPHA:217385
Holoprosencephaly 11
Holoprosencephaly, Hypotelorism, Proptosis, Agenesis of corpus callosum, Microcephaly OMIM:614226
Anterior Segment Dysgenesis 5
Developmental cataract, Microphthalmia, Hypoplasia of the fovea, Posterior embryotoxon, Hypoplasi... OMIM:604229
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Small cerebral cortex, Hypertelorism, Posteriorly rotated ears, Wide nasal bridge, Hypoplasia of ... OMIM:617360
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Protruding ear, Cerebral cortical atrophy, Agenesis of corpus callosum, Microcephaly ORPHA:2508
Warburg Micro Syndrome 3
Optic atrophy, Microphthalmia, Short nose, Macrotia, Microcephaly, Polymicrogyria, Secondary micr... OMIM:614222
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia, Cataract, Iris coloboma OMIM:212550
Holoprosencephaly 2
Aplasia of the nose, Microphthalmia, Diabetes insipidus, Holoprosencephaly, Hypotelorism, Probosc... OMIM:157170
Hyperphosphatasia With Mental Retardation Syndrome 6
Large earlobe, Prominent nasal tip, Depressed nasal bridge, Deeply set eye, Bulbous nose, Antever... OMIM:616809
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test OMIM:615925
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Abnormal palate morphology, Hypodontia, Facial cleft, Microphthalmia, Brachycephaly, Frontal boss... ORPHA:1236
Craniosynostosis 4
Optic nerve hypoplasia, Short nose, Hypertelorism, Macrocephaly, Ectopic posterior pituitary OMIM:600775
Congenital Disorder Of Glycosylation, Type Iu
Optic atrophy, Death in infancy, Cerebral white matter atrophy, Short nose, Hypotelorism, Cerebel... OMIM:615042
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Thyroid hypoplasia, Decreased circulating follicle stimulating hormone concentration, Reduced rad... ORPHA:226307
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Protruding ear, Prominent nasal bridge, Deeply set eye, Macrocephaly, Cryptorchidism, Decreased t... ORPHA:85279
Chromosome 14Q11-Q22 Deletion Syndrome
Optic atrophy, Depressed nasal bridge, Wide nose, Short nose, Abnormality of the pinna, Deeply se... OMIM:613457
Malan Overgrowth Syndrome
Optic disc pallor, Depressed nasal bridge, Optic disc hypoplasia, Hypoplasia of the brainstem, Ma... ORPHA:420179
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Hypertelorism, Wide nasal bridge, Macrocephaly, Hydrocephalus, Cryptorchidism, ... OMIM:175700
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dandy-Walker malformation, Hypoplasia of the pons, Optic nerve hypoplasia, Dilation of lateral ve... OMIM:618736
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Linear Skin Defects With Multiple Congenital Anomalies 2
Optic disc pallor, Short nose, Hypertelorism, Posteriorly rotated ears, Hypoplasia of the corpus ... OMIM:300887
Jaberi-Elahi Syndrome
Optic atrophy, Depressed nasal bridge, Short nose, Protruding ear, Agenesis of corpus callosum, M... OMIM:617988
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft lip, Cleft palate, Tooth agenesis ORPHA:1074
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Depressed nasal bridge, Chorioretinal coloboma, Short nose, Posteriorly rotated ears, Hearing imp... ORPHA:284169
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Wide nasal bridge, Simplified gyral pattern, Deeply set eye, Sensorineural hearing impairment, Pa... OMIM:615966
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Facial diplegia, Decreased sensory nerve conduction ve... OMIM:218000
Isolated Dandy-Walker Malformation
Frontal bossing, Prominent occiput, Cleft palate, Platybasia ORPHA:217
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Rieger anomaly, Hypertelorism, Sensorineural hearing impairm... OMIM:109120
Cerebrooculofacioskeletal Syndrome 4
Low-set, posteriorly rotated ears, Prominent nasal bridge, Simplified gyral pattern, Deeply set e... OMIM:610758
Joubert Syndrome 14
Dandy-Walker malformation, Microphthalmia, Hypertelorism, Prominent nasal bridge, Posteriorly rot... OMIM:614424
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Miller-Dieker Syndrome
Short nose, Lissencephaly, Anteverted nares, Hypoplasia of the corpus callosum, Cerebral cortical... ORPHA:531
Bresek Syndrome
Protruding ear, Aganglionic megacolon, Convex nasal ridge, Microphthalmia, Optic nerve hypoplasia... ORPHA:85284
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Depressed nasal bridge, Short nose, Progressive microcephaly, Hypoplasia of the corpus callosum, ... OMIM:617802
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Prominent nose, Macrotia, Deeply set eye, Premature ovarian insufficiency, Abnormal cerebral whit... ORPHA:391307
Lissencephaly 6 With Microcephaly
Partial agenesis of the corpus callosum, Microlissencephaly, Macrotia, Simplified gyral pattern, ... OMIM:616212
Pituitary Stalk Interruption Syndrome
Death in infancy, Diabetes insipidus, Septo-optic dysplasia, Abnormality of the hypothalamus-pitu... ORPHA:95496
Parietal Foramina 1
Cleft upper lip, Cleft palate, Symmetrical, oval parietal bone defects, Parietal foramina OMIM:168500
Donnai-Barrow Syndrome
Partial agenesis of the corpus callosum, Broad nasal tip, Depressed nasal bridge, Hypoplasia of t... OMIM:222448
Mucolipidosis Iv
Hypergastrinemia, Cerebral dysmyelination, Dysplastic corpus callosum, Microcephaly OMIM:252650
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Ke... ORPHA:2334
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Dandy-Walker malformation, Partial agenesis of the corpus callosum, Microphthalmia, Remnants of t... OMIM:614643
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Hypertelorism, Macrotia, Wide nasal bridge, Deeply set eye, Bulbous nose, Microcephaly ORPHA:261304
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Broad nasal tip, Posteriorly rotated ears, Wide nasal base, Sensorineural hearing impairment, Bro... OMIM:617763
Encephalopathy Due To Sulfite Oxidase Deficiency
Ectopia lentis, Short nose, Microcephaly, Deeply set eye ORPHA:833
Coach Syndrome 2
Chorioretinal coloboma, Cerebellar vermis hypoplasia, Hydrocephalus, Coloboma, Agenesis of corpus... OMIM:619111
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Partial agenesis of the corpus callosum, Posteriorly rotated ears, Primary microcephaly, Cerebell... OMIM:616819
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Simplified gyral pattern, Pachygyria, Cerebral atrophy, Microcephaly OMIM:251270
Craniosynostosis 6
Dandy-Walker malformation, Hypertelorism, Abnormal corpus callosum morphology, Sensorineural hear... OMIM:616602
Cornelia De Lange Syndrome 5
Broad nasal tip, Depressed nasal bridge, Hypertelorism, Prominent nasal bridge, Hearing impairmen... OMIM:300882
Familial Congenital Mirror Movements
Morphological abnormality of the corticospinal tract, Hypogonadotropic hypogonadism, Dysgenesis o... ORPHA:238722
Rhyns Syndrome
Hearing impairment, Deeply set eye, Hypopituitarism ORPHA:140976
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency OMIM:167500
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re... OMIM:300888
14Q22Q23 Microdeletion Syndrome
Underdeveloped nasal alae, Diabetes insipidus, Anophthalmia, Hypertelorism, Abnormality of the hy... ORPHA:264200
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos, Cataract OMIM:608763
Borjeson-Forssman-Lehmann Syndrome
Macrotia, Deeply set eye, Cryptorchidism, Delayed puberty, Microcephaly OMIM:301900
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Short nose, Short columella, Hypertelorism, Abnormality of the septum pel... ORPHA:171839
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Cerebral white matter atrophy, Hypertelorism, Deeply set eye, Microcephaly, Sensorineural hearing... ORPHA:464282
Septopreoptic Holoprosencephaly
Perisylvian polymicrogyria, Megalencephaly, Abnormal corpus callosum morphology, Abnormality of t... ORPHA:280195
Chromosome 3Q29 Duplication Syndrome
Short nose, Wide nasal bridge, Abnormally large globe, Bulbous nose, Macrocephaly, Microcephaly OMIM:611936
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hypogonadotropic hypogonadism, Iris coloboma, Sensorineural hearing impairment, Choanal atresia, ... OMIM:147950
Chromosome 3Q13.31 Deletion Syndrome
Hypertelorism, Macrotia, Alobar holoprosencephaly, Cryptorchidism, Decreased testicular size, Age... OMIM:615433
Chromosome Xq27.3-Q28 Duplication Syndrome
Increased circulating gonadotropin level, Hypogonadism, Bulbous nose, Cryptorchidism, Decreased t... OMIM:300869
Ssr4-Cdg
Macrotia, Absent septum pellucidum, Deeply set eye, Abnormal periventricular white matter morphol... ORPHA:370927
Treacher-Collins Syndrome
Cleft palate, High palate, Wide mouth, Open bite, Facial cleft, Rectovaginal fistula, Cleft upper... ORPHA:861
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract ORPHA:1473
Xq27.3Q28 Duplication Syndrome
Hypogonadism, Bulbous nose, Premature ovarian insufficiency, Cryptorchidism, Decreased testicular... ORPHA:261483
Maternal Uniparental Disomy Of Chromosome X
Primary gonadal insufficiency, Depressed nasal bridge, Agenesis of corpus callosum, Microcephaly ORPHA:261519
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
Low-set, posteriorly rotated ears, Primary microcephaly, Cerebellar vermis hypoplasia, Anteverted... ORPHA:466688
Intellectual Developmental Disorder, Autosomal Dominant 65
Dysgenesis of the hippocampus, Macrotia, Noncommunicating hydrocephalus, Posteriorly rotated ears... OMIM:619320
Lissencephaly 7 With Cerebellar Hypoplasia
Agyria, Cerebellar hypoplasia, Lissencephaly, Agenesis of corpus callosum, Microcephaly OMIM:616342
Developmental And Epileptic Encephalopathy 75
Optic atrophy, Optic disc pallor, Short nose, Hypertelorism, Wide nasal bridge, Frontal cortical ... OMIM:618437
Microphthalmia, Isolated 8
Coloboma, Optic nerve hypoplasia, Microphthalmia OMIM:615113
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Nizon-Isidor Syndrome
Depressed nasal bridge, Hypertelorism, Prominent nasal bridge, Iris coloboma, Bulbous nose, Antev... OMIM:618872
Isolated Exencephaly
Maternal diabetes, Depressed nasal bridge, Posterior pituitary agenesis, Holoprosencephaly, Aplas... ORPHA:563612
Foxg1 Syndrome
Optic disc hypoplasia, Abnormal corpus callosum morphology, Pachygyria, Progressive microcephaly,... ORPHA:561854
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume, Hypoplasia of the olfactory bulb, Abnormality of the basal ganglia OMIM:618646
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Failure of eruption of permanent teeth, Hypoplasia of the olfactory bulb, Anophth... ORPHA:2250
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Primary hypothyroidism, Agenesis of corpus callosum, Goiter OMIM:225040
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Donnai-Barrow Syndrome
Depressed nasal bridge, Short nose, Hypertelorism, Posteriorly rotated ears, Iris coloboma, Senso... ORPHA:2143
Mental Retardation, Autosomal Recessive 45
Wide nasal bridge, Deeply set eye OMIM:615979
Chromosome 13Q33-Q34 Deletion Syndrome
Dandy-Walker malformation, Microphthalmia, Anencephaly, Hypertelorism, Posteriorly rotated ears, ... OMIM:619148
Combined Oxidative Phosphorylation Deficiency 12
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Leukoencephalopathy OMIM:614924
Joubert Syndrome With Renal Defect
Aganglionic megacolon, Abnormality of the hypothalamus-pituitary axis, Low-set, posteriorly rotat... ORPHA:220497
Oculocerebrodental Syndrome
Conductive hearing impairment, Dysplastic corpus callosum, Depressed nasal bridge, Wide nasal bri... ORPHA:557003
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia, Leukoencephalopathy, Polymicrogyria, Cataract, Hydrocepha... OMIM:615181
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Underdeveloped nasal alae, Depressed nasal bridge, Microphthalmia, Agenesis of cerebellar vermis,... ORPHA:228390
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1
Optic atrophy, Death in infancy, Microcephaly, Cerebral atrophy, Deeply set eye OMIM:614388
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft upper lip, Cleft palate, Stomach cancer OMIM:137215
Coasy Protein-Associated Neurodegeneration
Abnormal corpus striatum morphology, Abnormal globus pallidus morphology, Abnormal caudate nucleu... ORPHA:397725
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Death in childhood, Hypoplastic hippocampus, Thin corpus... OMIM:619517
Isolated Growth Hormone Deficiency, Type Iv
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Decreased s... OMIM:618157
Holoprosencephaly, Recurrent Infections, And Monocytosis
Holoprosencephaly, Abnormality of the pinna, Cryptorchidism, Agenesis of corpus callosum, Microce... OMIM:610680
Pituitary Carcinoma
Increased circulating prolactin concentration, Enlarged pituitary gland, Diabetes insipidus, Pitu... ORPHA:300385
Skin Creases, Congenital Symmetric Circumferential, 2
Depressed nasal bridge, Microphthalmia, Hypertelorism, Posteriorly rotated ears, Microtia, Crypto... OMIM:616734
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Orthostatic hypotension, Focal T2 hyperintense basal ganglia lesion, Abnorm... ORPHA:2822
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hyposmia, Leukoencephalopathy, Hypergonadotropic hypogonadism, Abnormality of thalamus morphology OMIM:613724
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Simplified gyral pattern, Decreased thalamic volume, Hypoplasia of the brainstem, Cerebellar hypo... OMIM:619072
Microphthalmia With Limb Anomalies
High palate, Cleft palate, Microphthalmia, Cleft upper lip, Anophthalmia, Deep philtrum, Frontal ... OMIM:206920
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Broad nasal tip, Depressed nasal bridge, Wide nasal bridge, Deeply set eye, Pseudohypoparathyroid... OMIM:617157
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Underdeveloped nasal alae, Optic disc pallor, Diabetes insipidus, Hypertelorism, Aplasia/Hypoplas... ORPHA:423479
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Abnormal globus pallidus morphology, Hypertelorism, Hypoplasia of the corpus callosum, Agenesis o... OMIM:618603
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Flared nostrils, Wide nose, Hypertelorism, Hypergonadotropic hypogonadism, Decreased response to ... ORPHA:280679
Chromosome 5P13 Duplication Syndrome
Hypotelorism, Hypertelorism, Wide nasal bridge, Bulbous nose, Macrocephaly, Proptosis, Agenesis o... OMIM:613174
Acromelic Frontonasal Dysplasia
Meningocele, Broad nasal tip, Hypoplasia of the olfactory bulb, Thick nasal alae, Hypertelorism, ... ORPHA:1827
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Microphthalmia, Aniridia, Congenital aphakia, Sclerocornea, Post... OMIM:610256
Temtamy Syndrome
Convex nasal ridge, Chorioretinal coloboma, Ectopia lentis, Hypertelorism, Iris coloboma, Lens lu... OMIM:218340
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Hypoplasia of the corpus callosum, Deeply set eye OMIM:618381
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Partial agenesis of the corpus callosum, Hypertelorism, Optic atrophy, Microcephaly OMIM:245349
Mental Retardation, Autosomal Dominant 7
Hypotelorism, Macrotia, Abnormality of the pinna, Deeply set eye, Microcephaly, Bulbous nose, Thi... OMIM:614104
Mitochondrial Complex I Deficiency, Nuclear Type 16
Optic atrophy, Adrenal insufficiency, Agenesis of corpus callosum, Caudate atrophy OMIM:618238
16P13.11 Microdeletion Syndrome
Depressed nasal bridge, Holoprosencephaly, Short nose, Cyclopia, Sensorineural hearing impairment... ORPHA:261236
Even-Plus Syndrome
Depressed nasal ridge, Dysplastic corpus callosum, Short nose, Microtia, Bifid nasal tip, Agenesi... OMIM:616854
Weiss-Kruszka Syndrome
Horizontal crus of helix, Colpocephaly, Overfolded helix, Short nose, Hearing impairment, Microti... OMIM:618619
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Short nose, Macrotia, Microcephaly OMIM:617061
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Conductive hearing impairment, Depressed nasal bridge, Short nose, Hypertelorism, Cryptorchidism,... OMIM:616910
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Dandy-Walker malformation, Hydranencephaly, Hypoplasia of the brainstem, Hydrocephalus, Cerebella... OMIM:225790
Trisomy 13
High, narrow palate, Cleft palate, Microphthalmia, Long philtrum, Anophthalmia, Aplasia/Hypoplasi... ORPHA:3378
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bulbous nose, Microcephaly, Deeply set eye OMIM:612474
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia ORPHA:2016
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Hypoplastic hippocampus, Agenesis of corpus callosum, Cerebral atrophy OMIM:600329
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Trigonocephaly, Prominent metopic ridge, Brachycephaly OMIM:275595
Oculocerebrocutaneous Syndrome
Facial cleft, Wide mouth, Calvarial skull defect, Oral cleft ORPHA:1647
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Dandy-Walker malformation, Anencephaly, Decreased testicular size, Hypoplasia of the brainstem, H... OMIM:615287
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Lissencephaly OMIM:619466
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Corticospinal tract hypoplasia, Absent septum pellucidum, Macrocephaly, Hydrocephalus, Agenesis o... OMIM:307000
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon, Holoprosencephaly, Hypertelorism, Proptosis, Cyclopia, Microcephaly ORPHA:2165
Joubert Syndrome With Ocular Defect
Aganglionic megacolon, Retinal coloboma, Abnormality of the hypothalamus-pituitary axis, Low-set,... ORPHA:220493
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose, Primary microcephaly OMIM:245570
Spinocerebellar Ataxia 23
Agenesis of corpus callosum OMIM:610245
Xk Aprosencephaly Syndrome
Hypotelorism, Microphthalmia, Abnormality of the nares, Microcephaly ORPHA:3469
14Q11.2 Microdeletion Syndrome
Depressed nasal bridge, Hypertelorism, Short nose, Low-set, posteriorly rotated ears, Deeply set eye ORPHA:261120
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Congenital hypoparathyroidism, Depressed nasal bridge, Convex nasal ridge, Posteriorly rotated ea... OMIM:241410
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Microcephaly, Deeply set eye ORPHA:85280
Trichothiodystrophy 4, Nonphotosensitive
Partial agenesis of the corpus callosum, Optic atrophy, Microphthalmia, Short nose, Macrotia, Mic... OMIM:234050
Hyperthyroidism, Familial Gestational
Hyperthyroidism, Increased circulating T4 level, Decreased thyroid-stimulating hormone level OMIM:603373
Autosomal Recessive Primary Microcephaly
Hypoplasia of the frontal lobes, Pachygyria, Agenesis of corpus callosum, Microcephaly ORPHA:2512
Cleft Palate, Isolated
Increased overbite, Cleft palate, Gingival overgrowth, Anterior open-bite malocclusion OMIM:119540
Lissencephaly, X-Linked, 2
Prominent nasal bridge, Wide nasal bridge, Pachygyria, Lissencephaly, Decreased testicular size, ... OMIM:300215
4Q21 Microdeletion Syndrome
Depressed nasal bridge, Hypertelorism, Hearing impairment, Cerebellar hypoplasia, Agenesis of cor... ORPHA:238750
Craniosynostosis 2
Brachyturricephaly, Brachycephaly, Cleft soft palate, Trigonocephaly, Supernumerary tooth, Cranio... OMIM:604757
Developmental Delay With Or Without Dysmorphic Facies And Autism
Narrow nose, Depressed nasal bridge, Short nose, Hypotelorism, Posteriorly rotated ears, Prominen... OMIM:618454
Perlman Syndrome
Short nose, Posteriorly rotated ears, Wide nasal bridge, Anteverted nares, Macrocephaly, Abnormal... ORPHA:2849
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Anterior pituitary hypoplasia, Ectopic posterior pi... ORPHA:67045
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Hypointensity of cerebral white matter on MRI, Depressed nasal bridge, Hypertelorism, Macrocephal... OMIM:300860
Heart And Brain Malformation Syndrome
Dandy-Walker malformation, Depressed nasal bridge, Microphthalmia, Global brain atrophy, Hypertel... OMIM:616920
Amish Lethal Microcephaly
Optic atrophy, Death in infancy, Cerebellar vermis hypoplasia, Spina bifida, Lissencephaly, Agene... ORPHA:99742
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Hypertelorism, Short nose, Deeply set eye, Cerebellar hypoplasia, Microcephaly OMIM:618087
Microgastria-Limb Reduction Defects Association
Arrhinencephaly, Anophthalmia, Absent gallbladder, Polymicrogyria, Porencephalic cyst, Cryptorchi... OMIM:156810
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Wide nose, Hypertelorism, Hypergonadotropic hypogonadism, Decreased response to growth hormone st... OMIM:300845
Cog2-Cdg
Small pituitary gland, Secondary microcephaly, Hypoplasia of the corpus callosum, Diffuse cerebra... ORPHA:435934
Xfe Progeroid Syndrome
Optic atrophy, Convex nasal ridge, Hearing impairment, Microcephaly, Deeply set eye OMIM:610965
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Dandy-Walker malformation, Agenesis of corpus callosum, Depressed nasal bridge, Hypertelorism, Ce... ORPHA:459061
Cockayne Syndrome Type 2
Anophthalmia, Delayed eruption of primary teeth, Male hypogonadism, Subcortical white matter calc... ORPHA:90322
Glutamine Deficiency, Congenital
Depressed nasal bridge, Neonatal death, Short nose, Wide nasal bridge, Anteverted nares, Dilation... OMIM:610015
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Microphthalmia, Septo-optic dysplasia, Iris coloboma, Aplasia/Hypoplasia involving... ORPHA:3301
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Hypertelorism, Prominent nasal bridge, Sensorineural hearing impairment, Bilatera... OMIM:618652
Amoebiasis Due To Free-Living Amoebae
Abnormal cerebral cortex morphology, Abnormal hypothalamus morphology, Facial palsy, Encephalomal... ORPHA:68
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Wide nose, Hypertelorism, Recurrent upper respiratory tract infections, Depressed... ORPHA:2399
Absent Eyebrows And Eyelashes With Mental Retardation
Short nose, Convex nasal ridge, Microcephaly OMIM:200130
Fumarase Deficiency
Optic atrophy, Depressed nasal bridge, Hypertelorism, Hypoplasia of the brainstem, Polymicrogyria... OMIM:606812
Verheij Syndrome
Short nose, Wide nasal bridge, Cerebral atrophy, Coloboma, Microcephaly OMIM:615583
Stevenson-Carey Syndrome
Underdeveloped nasal alae, Prominent nasal tip, Microphthalmia, Posteriorly rotated ears, Cerebel... OMIM:611961
Foxg1 Syndrome Due To 14Q12 Microdeletion
Depressed nasal bridge, Short nose, Bulbous nose, Abnormal antihelix morphology, Protruding ear, ... ORPHA:261144
Vici Syndrome
Optic atrophy, Death in infancy, Hypoplasia of the pons, Hypotelorism, Hypertelorism, Sensorineur... ORPHA:1493
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Depressed nasal bridge, Short nose, Hypertelorism, Deeply set eye, Aplasia/Hypoplasia of the cere... ORPHA:1812
Mosaic Trisomy 9
High palate, Cleft palate, Facial cleft, Large fontanelles, Microphthalmia, Intestinal malrotatio... ORPHA:99776
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Optic atrophy, Depressed nasal bridge, Long nose, Short nose, Posteriorly rotated ears, Cerebella... OMIM:618590
Fanconi Anemia, Complementation Group G
Microphthalmia, Microcephaly OMIM:614082
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Anencephaly, Hydrocephalus OMIM:614120
Spastic Paraplegia 11, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Abnormal periventricular white matter morpholog... OMIM:604360
10Q22.3Q23.3 Microduplication Syndrome
Hypotelorism, Microcephaly, Deeply set eye ORPHA:276422
Satb2-Associated Syndrome Due To A Pathogenic Variant
Abnormality of globe location, Deeply set eye, Abnormal cerebral white matter morphology ORPHA:576283
Mental Retardation, Autosomal Dominant 29
High palate, Brachycephaly, Narrow palate, Thin upper lip vermilion, Dental crowding OMIM:616078
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Absent septum pellucidum, Hydrocephalus, Agenesis of corpus callosum, Aqueduct... ORPHA:2182
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Caudate atrophy, Leukoencephalopathy, Basal ganglia calcification, T2 hypointense thalamus, Hypop... OMIM:618193
Trisomy 9P
Hypertelorism, Macrotia, Deeply set eye, Impacted tooth, Protruding ear, Abnormal nasal morpholog... ORPHA:236
Congenital Toxoplasmosis
Microphthalmia, Hearing impairment, Hydrocephalus, Cerebral calcification, Microcephaly ORPHA:858
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Short nose, Hearing impairment, Hypogonadism, Short nasal septum, Anosmia... OMIM:302950
Mental Retardation, X-Linked, Syndromic 12
Thick lower lip vermilion, Thick upper lip vermilion, Wide mouth, Brachycephaly OMIM:309545
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Optic atrophy, Depressed nasal bridge, Aplasia/Hypoplasia of the cerebellum, Macrocephaly, Polymi... ORPHA:60040
20P13 Microdeletion Syndrome
Hypertelorism, Prominent nasal bridge, Posteriorly rotated ears, Deeply set eye, Macrocephaly, Mi... ORPHA:313781
Radio-Tartaglia Syndrome
Large earlobe, Conductive hearing impairment, Prominent nasal tip, Depressed nasal bridge, Hypert... OMIM:619312
Curry-Jones Syndrome
Microphthalmia, Megalencephaly, Hemimegalencephaly, Polymicrogyria, Coloboma, Agenesis of corpus ... OMIM:601707
Pyruvate Dehydrogenase E1-Alpha Deficiency
Partial agenesis of the corpus callosum, Basal ganglia necrosis, Basal ganglia gliosis, Basal gan... ORPHA:79243
Leukodystrophy, Hypomyelinating, 10
Short nose, Hearing impairment, Microcephaly, Progressive microcephaly, Bulbous nose, Cerebral at... OMIM:616420
Xeroderma Pigmentosum, Complementation Group F
Deeply set eye, Aplasia/Hypoplasia involving the central nervous system, Microcephaly, Hearing im... OMIM:278760
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Abnormality of the pinna, Prominent nasal bridge, Optic disc coloboma, Hearing impairment, Sensor... ORPHA:52055
Thyroid Hormone Resistance, Selective Pituitary
Impaired sensitivity to thyroid hormone, Hyperthyroidism, Elevated circulating thyroid-stimulatin... OMIM:145650
Joubert Syndrome 22
Microphthalmia, Hypoplasia of the corpus callosum, Temporal cortical atrophy OMIM:615665
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Polymicrogyria, Cerebellar hypoplasia, Cerebral atrophy, Cerebral hypoplasia, Abnormal periventri... ORPHA:468631
Acrofacial Dysostosis, Catania Type
Carious teeth, Abnormal palate morphology, Smooth philtrum, Facial cleft, Abnormality of the dent... ORPHA:1786
Septo-Optic Dysplasia Spectrum
Maternal diabetes, Diabetes insipidus, Septo-optic dysplasia, Optic nerve hypoplasia, Abnormality... ORPHA:3157
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Microphthalmia, Retinal coloboma, Posteriorly rotated ears, Iris colo... ORPHA:2328
Microphthalmia-Brain Atrophy Syndrome
Corpus callosum atrophy, Diffuse cerebral atrophy, Dilation of lateral ventricles, Bilateral micr... ORPHA:77299
Warburg Micro Syndrome 2
Optic atrophy, Microphthalmia, Asymmetry of the ears, Global brain atrophy, Short nose, Macrotia,... OMIM:614225
Galloway-Mowat Syndrome 5
Hypertelorism, Hearing impairment, Microcephaly, Pachygyria, Deeply set eye OMIM:617731
Tremor-Ataxia-Central Hypomyelination Syndrome
Optic atrophy, Hypogonadotropic hypogonadism, Delayed eruption of teeth, Deeply set eye, Autonomi... ORPHA:447896
17Q12 Microduplication Syndrome
Microphthalmia, Cortical dysplasia, Deeply set eye ORPHA:261272
Emanuel Syndrome
Macrotia, Hearing impairment, Low hanging columella, Deeply set eye, Delayed eruption of primary ... OMIM:609029
Rajab Interstitial Lung Disease With Brain Calcifications 2
Periventricular cysts, Deeply set eye, Hypothyroidism, Hypopituitarism, Microcephaly OMIM:619013
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Cryptorchidism, Decreased testicular size OMIM:614880
1Q21.1 Microdeletion Syndrome
Microphthalmia, Wide nasal bridge, Deeply set eye, Sensorineural hearing impairment, Iris colobom... ORPHA:250989
Mycophenolate Mofetil Embryopathy
Microphthalmia, Chorioretinal coloboma, Hypertelorism, Bifid nose, Hearing impairment, Anotia, Ir... ORPHA:268249
Non-Distal Trisomy 13Q
Short nose, Hypotelorism, Aplasia/Hypoplasia affecting the eye, Aplasia/Hypoplasia of the earlobe... ORPHA:1702
Coffin-Siris Syndrome 11
Depressed nasal bridge, Hypertelorism, Bulbous nose, Uplifted earlobe, Agenesis of corpus callosum OMIM:618779
Wolfram-Like Syndrome
Male hypogonadism, Diabetes mellitus, Hypothyroidism, Central diabetes insipidus, Primary gonadal... ORPHA:411590
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Hypoplasia of the corpus callosum, Deeply set eye ORPHA:521390
Rhombencephalosynapsis
Aganglionic megacolon, Septo-optic dysplasia, Agenesis of cerebellar vermis, Short nose, Low-set,... ORPHA:59315
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dilated third ventricle, Dysplastic corpus callosum, Periventricular cysts, Hypertelorism, Macrot... ORPHA:544488
Bangstad Syndrome
Convex nasal ridge, Increased circulating cortisol level, Polycystic ovaries, Deeply set eye, Abn... ORPHA:1227
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Anteverted nares, Basal ganglia cysts, Posteriorly rotated ears, Agenesis of corpus callosum OMIM:613623
Alkuraya-Kucinskas Syndrome
Depressed nasal bridge, Short nose, Hypotelorism, Posteriorly rotated ears, Hypertelorism, Hypopl... OMIM:617822
Bardet-Biedl Syndrome 7
Hypogonadism, Hypertelorism, Depressed nasal bridge, Deeply set eye OMIM:615984
Meckel Syndrome 12
Wide nasal bridge, Cerebellar hypoplasia, Anteverted nares, Cerebral hypoplasia, Agenesis of corp... OMIM:616258
Luo-Schoch-Yamamoto Syndrome
Depressed nasal bridge, Wide nose, Hypertelorism, Abnormality of the pinna, Primary microcephaly,... OMIM:619460
Wilson-Turner Syndrome
Broad nasal tip, Hypogonadotropic hypogonadism, Microtia, Cryptorchidism, Deeply set eye ORPHA:3459
Ring Chromosome 22 Syndrome
Macrotia, Wide nasal base, Absent septum pellucidum, Bulbous nose, Agenesis of corpus callosum, M... ORPHA:1446