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Gene: Zic5 MGI:1929518

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

zinc finger protein of the cerebellum 5

Synonyms:

1700049L20Rik, odd-paired related, Opr

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Zic5 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 Zic5 (0 diseases)
Human diseases predicted to be associated with Zic5 (1208 diseases)

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

The table below shows human diseases predicted to be associated to Zic5 by phenotypic similarity.

Disease	Matching phenotypes	Source
Leukoencephalopathy With Vanishing White Matter 5	Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Dilated third ventricle,...	OMIM:620315
Pontocerebellar Hypoplasia, Type 12	Death in infancy, Micrognathia, Cerebral atrophy, Hypoplasia of the brainstem, Lateral ventricle ...	OMIM:618266
Adams-Oliver Syndrome 2	Microcephaly, Micrognathia, Hydrocephalus, Optic atrophy, Cerebral atrophy, Lateral ventricle dil...	OMIM:614219
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Macrocephaly, Polymicr...	OMIM:600348
Cerebrooculofacioskeletal Syndrome 3	Microcephaly, Micrognathia, Cerebellar hypoplasia, Microphthalmia, Agenesis of corpus callosum, V...	OMIM:616570
X-Linked Parkinsonism-Spasticity Syndrome	Lateral ventricle dilatation, Dilated third ventricle, Diffuse cerebral atrophy	ORPHA:363654
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Optic at...	OMIM:613154
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Lobar holoprosencephaly, ...	OMIM:609637
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Holoprosencephaly, Chorioretinal coloboma, Microphthalmia...	OMIM:611638
Congenital Hydrocephalus	Abnormal cortical gyration, Hydrocephalus, Optic atrophy, Small cerebral cortex, Colpocephaly, Li...	ORPHA:2185
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Spina...	OMIM:618736
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microcep...	OMIM:618890
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Optic atrophy, Lissenc...	ORPHA:1528
Polymicrogyria Due To Tubb2B Mutation	Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dysgenesis of the basal...	ORPHA:300573
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Microcephaly, Corpus callosum atrophy, Simplified gyral pattern, Cerebral atrophy, Leukoencephalo...	OMIM:619244
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Cerebellar vermis hypoplasia, Micrognathia, Abnormal optic disc morpholo...	ORPHA:397715
Familial Median Cleft Of The Upper And Lower Lips	Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Abnormal mandible morphology, A...	ORPHA:401942
Microphthalmia-Brain Atrophy Syndrome	Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Bilateral microphthalmos, Latera...	ORPHA:77299
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation, Cortical dysplasia, Thick cerebral cortex, Cerebral hypoplasia	ORPHA:101071
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Death in infancy, Microcephaly, Simplified gyral pattern, Periventricular cysts, Abnormal cerebra...	OMIM:617668
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Caudate atrophy, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, ...	OMIM:615574
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Micrognathia, Hydrocephalus, Optic atrophy, Cerebellar hypoplasia, Dandy-Walker malformation	ORPHA:1538
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Optic nerve dysplasia, Cerebral atrophy, Lateral ventric...	OMIM:617296
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Optic nerve hypoplasia, Type II lissencephaly,...	ORPHA:370959
Alg2-Cdg	Abnormal basal ganglia MRI signal intensity, Microcephaly, Lateral ventricle dilatation, Hypoplas...	ORPHA:79326
Aicardi Syndrome	Prominence of the premaxilla, Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Pachygyri...	OMIM:304050
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Focal polymicrogyria, Partial agenesis of...	OMIM:615771
Oculocerebrocutaneous Syndrome	Anophthalmia, Orbital encephalocele, Hypoplasia of the corpus callosum, Microphthalmia, Agenesis ...	OMIM:164180
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation, Polymicrogyria, Short palm	OMIM:300982
Intellectual Developmental Disorder, Autosomal Recessive 69	Ataxia, Ventriculomegaly, Hyperplasia of the maxilla	OMIM:618383
Pontocerebellar Hypoplasia, Type 1A	Neuronal loss in basal ganglia, Microcephaly, Hypoplasia of the pons, Hypoplasia of the ventral p...	OMIM:607596
Lissencephaly 4	Simplified gyral pattern, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, Primary microcephal...	OMIM:614019
Polyrrhinia	Lateral ventricle dilatation, Abnormal third ventricle morphology	ORPHA:141091
Dihydropyrimidine Dehydrogenase Deficiency	Microcephaly, Optic atrophy, Cerebral atrophy, Coloboma, Microphthalmia, Agenesis of corpus callosum	OMIM:274270
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Pineocytoma	Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking	ORPHA:251912
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Cerebellar vermis hypoplasia, Micrognathia, Partial agenesis of the corpus callosum, Simplified g...	ORPHA:300570
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Microcephaly, Hypoplasia of the pons, Micrognathia, Partial agenesis of the co...	OMIM:616171
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Macrocephaly at birth, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Coloboma, Microp...	ORPHA:324416
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cerebellar vermis hypoplasia, Micrognathia, Simplified gyral pattern, Lateral ventricle dilatatio...	ORPHA:284417
Martsolf Syndrome 2	Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly	OMIM:619420
Hydrolethalus	Anophthalmia, Absent septum pellucidum, Micromelia, Micrognathia, Hydrocephalus, Anencephaly, Mic...	ORPHA:2189
Cach Syndrome	Microcephaly, T2 hypointense thalamus, Progressive macrocephaly, Optic atrophy, Cerebral atrophy,...	ORPHA:135
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Microcephaly, Retrognathia, Cerebral atrophy, Lateral ventricle dilatation...	ORPHA:464738
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Relative macrocephaly, Cerebral white matter atrophy, Periventricular leukomalacia, Microcephaly,...	ORPHA:500055
Duplication Of The Pituitary Gland	Encephalocele, Microcephaly, Supernumerary tooth, Abnormal pituitary gland morphology, Abnormal h...	ORPHA:314621
Alexander Disease Type I	Hydrocephalus, Progressive macrocephaly, Abnormal thalamic MRI signal intensity, Abnormal cerebra...	ORPHA:363717
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Micrognathia, Lens coloboma, Lateral ventricle dilatation, Umbilical herni...	OMIM:618914
Hemiparkinsonism-Hemiatrophy Syndrome	Hemiatrophy, Lateral ventricle dilatation, Cerebral cortical hemiatrophy	ORPHA:306669
Leukoencephalopathy, Progressive, With Ovarian Failure	Progressive leukoencephalopathy, Lateral ventricle dilatation, Periventricular leukomalacia, Leuk...	OMIM:615889
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, Pachygyria, Hydroce...	OMIM:613153
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Retrognathia, Lateral v...	ORPHA:544488
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Microcephaly, Simplified gyral pattern, Decreased thalamic volume, Hypoplasia of the brainstem, C...	OMIM:619072
Walker-Warburg Syndrome	Dandy-Walker malformation, Anophthalmia, Absent septum pellucidum, Abnormal cortical gyration, Mi...	ORPHA:899
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation, Hypoplasia of the corpus callosum	OMIM:616816
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Cerebellar vermis hypoplasia, Micrognathia, Perisylvian polymicrogyria, Lateral ventricle dilatat...	OMIM:618291
Solitary Median Maxillary Central Incisor	Anophthalmia, Cyclopia, Decreased response to growth hormone stimulation test, Microcephaly, Colo...	OMIM:147250
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Abnormal mandib...	ORPHA:83451
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Microcephaly, Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Death in chi...	OMIM:619517
Microphthalmia, Syndromic 12	Anophthalmia, Micrognathia, Neonatal death, Microphthalmia, Retrognathia	OMIM:615524
Malan Overgrowth Syndrome	Optic disc pallor, Optic disc hypoplasia, Lateral ventricle dilatation, Hypoplasia of the brainst...	ORPHA:420179
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Microcephaly, Micrognathia, Optic atrophy, Lateral ventricle dilatation...	ORPHA:3078
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Abnormality of the anterior commissure, Hypoplasia of the pons, Hydrocephalus, Fusion of the left...	OMIM:617542
Warburg Micro Syndrome 1	Enlarged sylvian cistern, Cerebellar vermis hypoplasia, Microcephaly, Micrognathia, Perisylvian p...	OMIM:600118
Lissencephaly 8	Occipital encephalocele, Type II lissencephaly, Microcephaly, Optic atrophy, Hypoplasia of the br...	OMIM:617255
Tubulinopathy-Associated Dysgyria	Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Dysgyria, Macrocephaly, Abnor...	ORPHA:467166
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Ventriculomegaly, Hydrocephalus, Cerebellar hypoplasia, Microphthalmia, Type II lissencephaly	OMIM:614830
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Pyruvate Dehydrogenase E1-Alpha Deficiency	Periventricular leukomalacia, Microcephaly, Partial agenesis of the corpus callosum, Cerebral atr...	ORPHA:79243
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Basal ganglia calcification, Leukoencephalopathy, Cerebral atrophy, Lateral vent...	OMIM:221770
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Abnormal cerebral white matter morphology, Lateral ventricle dilatation...	OMIM:613443
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly	OMIM:604213
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Anophthalmia, Hydrocephalus, Holoprosencephaly, Microphthalmia, Agenesis of cor...	ORPHA:77298
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Ventriculomegaly And Arthrogryposis	Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly, Micrognathia	OMIM:619501
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Short corpus callosum, Lateral ventricle dilatation	OMIM:619972
D-2-Hydroxyglutaric Aciduria 1	Micrognathia, Multifocal cerebral white matter abnormalities, Subependymal cysts, Lateral ventric...	OMIM:600721
Rhombencephalosynapsis	Microretrognathia, Septo-optic dysplasia, Agenesis of cerebellar vermis, Aganglionic megacolon, H...	ORPHA:59315
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:616428
Craniosynostosis 6	Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Da...	OMIM:616602
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Facial palsy, Microcephaly, Hydrocephalus, Hypoplasia of the brains...	OMIM:613155
Craniopharyngioma	Enlarged pituitary gland, Papilledema, Cerebral calcification, Neoplasm of the anterior pituitary...	ORPHA:54595
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly	OMIM:611808
Pallister-Hall-Like Syndrome	Occipital encephalocele, Death in infancy, Micromelia, Microcephaly, Micrognathia, Hydrocephalus,...	OMIM:241800
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Abnormal periventricular white matter morphology, Dilated third ventricle, Microcephaly	OMIM:619725
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Microcephaly, Lateral ventricle dilatatio...	OMIM:617751
Baraitser-Winter Syndrome 2	Retrognathia, Coloboma, Secondary microcephaly, Lissencephaly, Microphthalmia, Pachygyria, Agenes...	OMIM:614583
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm...	OMIM:614753
X-Linked Intellectual Disability, Wilson Type	Mandibular prognathia, Lateral ventricle dilatation, Microcephaly	ORPHA:85290
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Lateral ventricle dilatation, Thin corpus callosum, Shortening of all distal phalanges of the fin...	OMIM:615716
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microphthalmia, Th...	OMIM:614105
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Po...	ORPHA:250972
Holoprosencephaly 9	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Hypoplasia ...	OMIM:610829
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Absent septum pellucidum, Frontal encephalocele, Lissencephaly, Cerebella...	OMIM:218670
Leptin Receptor Deficiency	Abnormal hypothalamus morphology, Pituitary hypothyroidism, Decreased response to growth hormone ...	OMIM:614963
Autosomal Recessive Spastic Paraplegia Type 11	Orthostatic hypotension, Abnormal substantia nigra morphology, Hyperintensity of cerebral white m...	ORPHA:2822
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Glutamine Deficiency, Congenital	Micromelia, Subependymal cysts, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, ...	OMIM:610015
Alg13-Cdg	Abnormal lateral ventricle morphology, Global brain atrophy	ORPHA:324422
Giant Axonal Neuropathy 1, Autosomal Recessive	Lateral ventricle dilatation, Facial palsy, Macrocephaly	OMIM:256850
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Amelogenesis Imperfecta	Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ...	ORPHA:88661
Fryns Microphthalmia Syndrome	Microphthalmia, Neural tube defect, Anophthalmia	OMIM:600776
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Microcephaly, Microphthalmia	OMIM:613885
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ataxia, Ventriculomegaly	OMIM:618709
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Deep philtrum, Everted lower lip vermilion, Long philtrum, Open mouth	OMIM:137550
Paganini-Miozzo Syndrome	Mandibular prognathia, Malar flattening, Lateral ventricle dilatation	OMIM:301025
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus, Ataxia	ORPHA:99966
Dystonia 30	Diffuse cerebral atrophy, Globus pallidus hypointensity on susceptibility-weighted imaging, Hypot...	OMIM:619291
Edinburgh Malformation Syndrome	U-Shaped upper lip vermilion, Hydrocephalus, Failure to thrive	OMIM:129850
Hydrolethalus Syndrome 2	Micrognathia, Hydrocephalus, Anencephaly, Cleft palate, Agenesis of corpus callosum, Ventriculome...	OMIM:614120
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Short 5th finger, Focal white matter lesions, Enamel hypoplasia, Retr...	ORPHA:557003
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus, Periodontitis, Gingivitis, Abnormality of the dentition	ORPHA:1008
Trisomy 1Q	Microretrognathia, Anophthalmia, Hydrocephalus, Cerebellar hypoplasia, Macrocephaly, Agenesis of ...	ORPHA:261344
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Death in infancy, Agyria, Remnants of the hyaloid vascular system, Optic nerve hyp...	OMIM:614643
Global Developmental Delay With Or Without Impaired Intellectual Development	Lateral ventricle dilatation	OMIM:618330
Filippi Syndrome	Thin vermilion border, Short philtrum, Hypodontia, Decreased body weight, Microdontia, Serrated i...	OMIM:272440
Combined Oxidative Phosphorylation Defect Type 39	Optic disc pallor, Microcephaly, Corpus callosum atrophy, Decreased nerve conduction velocity, De...	ORPHA:565624
Bilateral Generalized Polymicrogyria	Lateral ventricle dilatation, Microcephaly, Hypoplasia of the corpus callosum, Diffuse white matt...	ORPHA:208447
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia, Microcephaly	OMIM:616335
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation, Macrocephaly	OMIM:619575
Cofs Syndrome	Death in infancy, Cerebral calcification, Microcephaly, Micrognathia, Optic atrophy, Aplasia/Hypo...	ORPHA:1466
Ventriculomegaly With Defects Of The Radius And Kidney	Absent thumb, Absent radius, Hydrocephalus, Lateral ventricle dilatation, Forearm undergrowth, Ve...	OMIM:602200
Pontocerebellar Hypoplasia, Type 13	Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation,...	OMIM:618606
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Hydrocephalus, Small for gestational age	OMIM:618302
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Decreased thalamic volume, Abnormal basal ganglia morphology, Hypoplasia of the olfactory bulb	OMIM:618646
Masa Syndrome	Hydrocephalus, Agenesis of corpus callosum, Shuffling gait, Ventriculomegaly	OMIM:303350
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Liang-Wang Syndrome	Thin upper lip vermilion, Ataxia, Diastema, Gingival overgrowth, Downturned corners of mouth, Mac...	OMIM:618729
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Colpocephaly, Pachygyria	OMIM:614870
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Microcephaly, Chorioretinal coloboma, Microphthalmia, Inferior cerebellar vermis hy...	ORPHA:139471
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy	Diffuse cerebral atrophy, Secondary microcephaly, Decreased thalamic volume, Hypoplasia of the br...	OMIM:613668
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microcephaly, Abnormally large globe, Hydrocephalus, Coloboma, Hypoplasia of the brainstem, Progr...	OMIM:615249
Biemond Syndrome Type 2	Microphthalmia, Hydrocephalus, Coloboma	ORPHA:141333
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip, Median cleft lip and palate, Hypoplasia of the premaxil...	OMIM:610828
Gombo Syndrome	Microphthalmia, Microcephaly	OMIM:233270
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Failure to thrive, Gait disturbance	ORPHA:26
Anencephaly 2	Anophthalmia, Anencephaly	OMIM:619452
Coasy Protein-Associated Neurodegeneration	Abnormal globus pallidus morphology, Abnormal caudate nucleus morphology, Eye of the tiger anomal...	ORPHA:397725
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary hypoplasia, Microce...	OMIM:206900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Leukoencephalopathy, Hypoplasia of...	OMIM:615181
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Death in infancy, Secondary microcephaly, Cerebellar hypoplasia, Neonatal deat...	OMIM:613730
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Interhypothalamic adhesion, Agenesis of corpus callosum, Macrocephaly	OMIM:618929
2,4-Dienoyl-Coa Reductase Deficiency	Death in infancy, Microcephaly, Hydrocephalus, Optic atrophy, Cerebral atrophy, Colpocephaly, Hyp...	OMIM:616034
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Aplasia/Hypoplasia of the cerebellum, Microcephaly, Micrognathia, Aplasia/Hypoplasia of the corpu...	ORPHA:2570
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Microcephaly, Hydrocephalus, Optic atrophy, Simplified gyral pattern...	OMIM:615219
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Frontal polymicrogyria, Cerebellar vermis hypoplasia, Lateral v...	OMIM:608629
Dystonia 31	Abnormal posturing, Difficulty walking	OMIM:619565
Atkin-Flaitz Syndrome	Abnormality of the dentition, Obesity, Thick vermilion border, Everted lower lip vermilion, Maxil...	ORPHA:1193
Combined Oxidative Phosphorylation Deficiency 51	Focal T2 hyperintense thalamic lesion, Optic atrophy, Cerebral atrophy	OMIM:619057
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Hydrocephalus, Decreased body weight	OMIM:614886
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Rubinstein-Taybi Syndrome 2	Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow palate, High palate, Increas...	OMIM:613684
Dislocation Of The Hip-Dysmorphism Syndrome	Malar flattening, Prominence of the premaxilla, Abnormal palate morphology, Narrow mouth	ORPHA:2412
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Megalencephaly, Hydrocephalus, Progressive macrocephaly, Microphthalmia, Cavum septum pellucidum,...	OMIM:602501
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Microretrognathia, Microcephaly, Partial agenesis of the corpus callosu...	ORPHA:434179
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia, Anterior pituitary hypoplasia, Micrognathia, Short 4th metacar...	ORPHA:264200
Congenital Toxoplasmosis	Cerebral calcification, Microcephaly, Hydrocephalus, Microphthalmia, Ventriculomegaly	ORPHA:858
Intellectual Developmental Disorder, Autosomal Dominant 56	Lateral ventricle dilatation, Secondary microcephaly, Thin corpus callosum	OMIM:617854
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Intellectual Developmental Disorder, Autosomal Dominant 21	Ventriculomegaly, Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Incisor macro...	OMIM:615502
Fried Syndrome	Hydrocephalus, High palate, Short philtrum, Gait disturbance	ORPHA:85335
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ventriculomegaly, Micrognathia, Malar prominence, Microphthalmia, Cerebral cortical atrophy, Abno...	ORPHA:48431
Leukoencephalopathy With Dystonia And Motor Neuropathy	Decreased motor nerve conduction velocity, Focal T2 hyperintense thalamic lesion, Leukoencephalop...	OMIM:613724
Cerebrooculonasal Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Anophthalmia, Optic nerve hypoplasia, Hydrocephalus,...	OMIM:605627
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Caudate atrophy, T2 hypointense thalamus, Basal ganglia calcification, Leukoencephalopathy, Hypop...	OMIM:618193
Bresek Syndrome	Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Neonatal death, Micro...	ORPHA:85284
Slc35A2-Cdg	Cerebral white matter atrophy, Microcephaly, Cortical dysplasia, Cerebral atrophy, Abnormal cereb...	ORPHA:356961
Frontonasal Dysplasia 1	Pericallosal lipoma, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Anterior basal encep...	OMIM:136760
Skraban-Deardorff Syndrome	Broad-based gait, Micrognathia, Absent cupid's bow, Cleft palate, Widely spaced teeth, Thick uppe...	OMIM:617616
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Gait ataxia, Thin upper lip vermilion, Truncal ataxia, Hyperplasia of the maxilla	OMIM:618587
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Microretrognathia, Cerebellar vermis hypoplasia, Agyria, Optic nerve hy...	ORPHA:171680
Central Precocious Puberty In Male	Pituitary microadenoma, Hydrocephalus, Hypothalamic hamartoma	ORPHA:649929
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation, Microcephaly	OMIM:619278
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus, Truncal ataxia	OMIM:220200
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Death in childhood, Primary microce...	OMIM:619847
Temtamy Syndrome	Micrognathia, Thick corpus callosum, Hypoplasia of teeth, Short 2nd toe, Chorioretinal coloboma, ...	OMIM:218340
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Abnormal lateral ventricle morphology, Cerebellar hypoplasia, Hypoplasia of the corpus callosum	ORPHA:488635
Central Neurocytoma	Abnormal lateral ventricle morphology, Cerebral calcification, Hydrocephalus	ORPHA:73256
Developmental And Epileptic Encephalopathy 36	Microretrognathia, Hydrocephalus	OMIM:300884
Pseudo-Torch Syndrome 2	Cerebral calcification, Microcephaly, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymi...	OMIM:617397
Intellectual Disability, Birk-Barel Type	Tented upper lip vermilion, Micrognathia, High, narrow palate, Broad philtrum, Short philtrum, To...	ORPHA:166108
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Thick lower lip vermilion, Obesity, Prominent median palatal ra...	OMIM:300602
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Multifocal...	ORPHA:488627
Williams-Beuren Region Duplication Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Micrognathia, D...	OMIM:609757
Holoprosencephaly	Encephalocele, Anophthalmia, Cyclopia, Microcephaly, Hydrocephalus, Optic atrophy, Spinal dysraph...	ORPHA:2162
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Schizencephaly, Reduced cerebral white matter volume, Micrognathia, Hydrocephalus, Retrognathia, ...	OMIM:620156
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Diffuse cerebral atrophy, Microcephaly, Micrognathia, Basal ganglia ca...	OMIM:214150
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Ventriculomegaly, Microcephaly, Carious teeth, Small hand, Death in ad...	OMIM:619229
Osteopetrosis, Autosomal Recessive 7	Death in infancy, Hydrocephalus, Optic atrophy, Lateral ventricle dilatation, Increased head circ...	OMIM:612301
Intellectual Disability And Myopathy Syndrome	Widely-spaced maxillary central incisors, Thin upper lip vermilion, Dental malocclusion, Incisor ...	OMIM:619719
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, Retrognathia, Microcephaly	ORPHA:2528
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Distal Deletion 10Q	Microcephaly, Micrognathia, Short metatarsal, Facial diplegia, Lateral ventricle dilatation, Cere...	ORPHA:96148
Vacterl With Hydrocephalus	Absence of the sacrum, Anophthalmia, Spina bifida, Micrognathia, Aqueductal stenosis, Hydrocephal...	ORPHA:3412
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Choroid plexus cyst, Retrognathia, Lateral ventricle dilatation, Abnormal caudate nucleus morphol...	ORPHA:293725
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Cerebral white matter atrophy, Lateral ventricle dilatation, Abnormal caudate nucleus morphology,...	ORPHA:2148
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Broad-based gait, Downturned corners of mouth, Wide mouth, Everted lowe...	OMIM:618067
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Lateral ventricle dilatation, Agenesis of corpus callosum, Delayed eruption of pr...	OMIM:300952
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Coloboma, Microphthalmia	OMIM:610125
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Optic disc pallor, Miscarriage, T2 hypointense thalamus, Cerebral atrophy, Hyperintensity of cere...	ORPHA:1947
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Abnormal cerebral white matter morphology, Dilated third ventricle, Optic atrophy, Cerebral atrophy	ORPHA:314404
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Death in infancy, Rhizomelia, Micrognathia, Hydrocephalus, Short foot, Cerebellar hypoplasia, Sho...	ORPHA:163966
Proboscis Lateralis	Aplasia/Hypoplasia of the maxilla, Anophthalmia, Optic nerve hypoplasia, Abnormal paranasal sinus...	ORPHA:141099
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia, Coloboma	OMIM:251505
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Lateral ventricle dilatation, Parietal cortical atrophy, Thin corpus callosum, Reduced cerebral w...	OMIM:620075
Basal Ganglia Calcification, Idiopathic, 5	Basal ganglia calcification, Cerebral calcification, Thalamic calcification	OMIM:615483
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation, Macrocephaly	OMIM:231670
Anophthalmia Plus Syndrome	Anophthalmia, Iris coloboma, Spina bifida	ORPHA:1104
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Congenital Disorder Of Glycosylation, Type Iig	Cerebellar vermis hypoplasia, Rhizomelia, Microcephaly, Micrognathia, Small hand, Cerebral atroph...	OMIM:611209
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Cerebral white matter atrophy, Micrognathia, Congenital pseudoarthrosis of...	ORPHA:435638
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Joubert Syndrome 14	Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Hydrocephalus, Mening...	OMIM:614424
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Mmep Syndrome	Mandibular prognathia, Microphthalmia, Microcephaly	ORPHA:3434
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Basal ganglia calcification, Thalamic calcification	OMIM:618824
Mosaic Trisomy 1	Microretrognathia, Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar hypopla...	ORPHA:1692
Cohen Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Micrognathia, H...	OMIM:216550
Pierpont Syndrome	Abnormal cortical gyration, Short toe, Short finger, Primary microcephaly, Microphthalmia, Malar ...	ORPHA:487825
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Lowry-Maclean Syndrome	Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, ...	ORPHA:2409
Cog5-Cdg	Cerebral white matter atrophy, Diffuse cerebral atrophy, Microcephaly, Lateral ventricle dilatati...	ORPHA:263487
Huntington Disease-Like 1	Dysmetria, Gait ataxia, Weight loss, Gait disturbance, Abnormal posturing, Ventriculomegaly	ORPHA:157941
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Absent septum pellucidum, Decreased response to growth hormone stimulatio...	OMIM:609053
Linear Skin Defects With Multiple Congenital Anomalies 2	Optic disc pallor, Microcephaly, Hypoplasia of the corpus callosum, Microphthalmia, Agenesis of c...	OMIM:300887
Diencephalic Syndrome	Hydrocephalus, Everted lower lip vermilion, Cachexia, Decreased body weight	ORPHA:1672
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus, Partial agenesis of the corpus callosum, Agenesis of corpus callosum	OMIM:619302
Trisomy 13	Anophthalmia, Optic atrophy, Aplasia/Hypoplasia of the iris, Microphthalmia, Malar flattening, Ir...	ORPHA:3378
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Micrognathia, Missing ribs, Hydrocephalus, Optic atrophy, Microphthalmia, ...	ORPHA:3301
Amelocerebrohypohidrotic Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Hydrocephalus, Yellow-brown disco...	ORPHA:1946
Gómez-López-Hernández Syndrome	Hydrocephalus, Thin vermilion border, Ataxia	ORPHA:1532
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Microcephaly, Pac...	OMIM:236670
Spinocerebellar Ataxia With Epilepsy	Optic atrophy, Focal T2 hyperintense thalamic lesion, Cerebral infarct	ORPHA:254881
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Chromosome 6Q24-Q25 Deletion Syndrome	Probst bundles, Hydrocephalus, Small hand, Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:612863
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Hypoplasia of the pons, Occipital cortical atrophy, Anophthalmia, Hypoplasia of the corpus callosum	ORPHA:411986
Joubert Syndrome 15	Ataxia, Exencephaly	OMIM:614464
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ventriculomegaly, Micrognathia, Hydrocephalus, Long philtrum, Agenesis of corpus callosum, Broad ...	OMIM:618577
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Meckel Syndrome	Encephalocele, Anophthalmia, Microcephaly, Micrognathia, Hydrocephalus, Anencephaly, Optic atroph...	ORPHA:564
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Microphthalmia, ...	OMIM:614833
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum	OMIM:614402
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, ...	ORPHA:363417
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Akinesia, Micrognathia, Hydrocephalus, Cleft palate, Hydranencephaly, Agenesis ...	OMIM:225790
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus	Open bite, Dental crowding, Hyperplasia of the maxilla	OMIM:613671
Meckel Syndrome, Type 4	Encephalocele, Agenesis of cerebellar vermis, Microcephaly, Hydrocephalus, Meningocele, Anencepha...	OMIM:611134
Stromme Syndrome	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Micrognathia, Hydrocephalus, ...	OMIM:243605
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Hydrocephalus, Retinal coloboma	OMIM:601794
Classic Pantothenate Kinase-Associated Neurodegeneration	Inability to walk, Abnormality of the tongue, Weight loss, Tip-toe gait, Gait disturbance, Abnorm...	ORPHA:216866
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Hypoplasia of the maxilla, Small for gestational age, Decreased body weight	ORPHA:93950
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia, Optic atrophy	ORPHA:1574
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Partial agenesis of the corpus callosum, ...	ORPHA:101030
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum	ORPHA:401815
Congenital Disorder Of Deglycosylation 2	Cerebellar vermis hypoplasia, Micrognathia, Partial agenesis of the corpus callosum, Retinal colo...	OMIM:619775
1Q21.1 Microduplication Syndrome	Hydrocephalus, Failure to thrive	ORPHA:250994
Baraitser-Winter Syndrome 1	Microcephaly, Retrognathia, Lissencephaly, Chorioretinal coloboma, Microphthalmia, Pachygyria, Ag...	OMIM:243310
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Micrognathia, Hydrocephalus, Short philtrum, Abnormal oral cavity morphology, Umbilical hernia, O...	ORPHA:1516
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Basal ganglia calcification, Thalamic calcification	OMIM:618317
Marshall-Smith Syndrome	Microretrognathia, Eclabion, Prominence of the premaxilla, Irregular dentition, Short mandibular ...	OMIM:602535
Curry-Jones Syndrome	Optic disc coloboma, Microphthalmia, Agenesis of corpus callosum, Iris coloboma, Ventriculomegaly	ORPHA:1553
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus, Broad-based gait	OMIM:619470
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia, Abnormal thalamus morphology, Micrognathia	ORPHA:404440
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Hydrocephalus, Retrognathia, Mala...	OMIM:620157
Dworschak-Punetha Neurodevelopmental Syndrome	Optic disc hypoplasia, Microcephaly, Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus...	OMIM:619955
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hypoplasia of the premaxilla, Micrognathia, Hydrocephalus, Orofacial cleft, Cleft ...	ORPHA:2166
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Hydrocephalus, Hypoplasia of the calcaneus, Macrocephaly, Microphth...	OMIM:300863
Temtamy Syndrome	Micrognathia, Short toe, Aplasia/Hypoplasia of the corpus callosum, Chorioretinal coloboma, Macro...	ORPHA:1777
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc...	OMIM:257850
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypoplasia of the maxilla, Hydrocephalus, Malar flattening, Agenesis of corpus callosum, Ventricu...	OMIM:109120
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Microcephaly, Micrognathia, Hydrocephalus, Optic atrophy, Colpocephaly, Periventricular leukomala...	OMIM:619833
Microphthalmia, Isolated 8	Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True anophthalmia	OMIM:615113
Acalvaria	Cleft palate, Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Bainbridge-Ropers Syndrome	Death in infancy, Microcephaly, Micrognathia, Lateral ventricle dilatation, Hypoplasia of the cor...	OMIM:615485
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Thin upper lip vermilion, Hypoplasia of the maxilla, Subependymal cysts, Smooth philtrum, Widely-...	OMIM:618737
Amoebiasis Due To Free-Living Amoebae	Sinusitis, Facial palsy, Abnormal basal ganglia morphology, Abnormal hypothalamus morphology, Abn...	ORPHA:68
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Cerebral atrophy, Leukoencephalopathy, La...	ORPHA:572798
Recon Progeroid Syndrome	Prominence of the premaxilla, Dental crowding, Delayed eruption of permanent teeth, Thin vermilio...	OMIM:620370
Hartsfield Syndrome	Encephalocele, Aplasia/Hypoplasia of the corpus callosum, Lobar holoprosencephaly, Aplasia/Hypopl...	ORPHA:2117
Weaver Syndrome	Mandibular prognathia, Short fourth metatarsal, Absent septum pellucidum, Lateral ventricle dilat...	OMIM:277590
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Amish Lethal Microcephaly	Death in infancy, Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Micrognathia, Optic a...	ORPHA:99742
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Rhizomelia, Agenesis of corpus callosum, Micrognathia	ORPHA:93267
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Death in infancy, Type II lissencephaly, Microcephaly, Hydrocephalus, Partial abse...	OMIM:613150
Microcephaly-Micromelia Syndrome	Micromelia, Microcephaly, Aqueductal stenosis, Micrognathia, Short tibia, Absent thumb, Absent ra...	OMIM:251230
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ...	OMIM:601216
Aicardi-Goutieres Syndrome 9	Cerebral calcification, Microcephaly, Basal ganglia calcification, Optic atrophy, Diffuse leukoen...	OMIM:619487
Papillary Tumor Of The Pineal Region	Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking	ORPHA:251915
Nanophthalmos 4	Microphthalmia, Optic disc drusen	OMIM:615972
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Optic disc pallor, Cerebellar vermis hypoplasia, Microcephaly, Lateral ...	OMIM:619869
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Optic disc pallor, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Cerebellar hypoplasi...	OMIM:251270
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Partial agenesis of the corpus callosum, High palate, Ventriculomegaly	OMIM:304100
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau...	ORPHA:3352
Halperin-Birk Syndrome	Micrognathia, Optic atrophy, Colpocephaly, Death in childhood, Umbilical hernia, Agenesis of corp...	OMIM:618651
Temple Syndrome	Small for gestational age, Micrognathia, Overweight, Hydrocephalus, Obesity, Cleft palate, Trunca...	OMIM:616222
Prader-Willi Syndrome Due To Translocation	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Microcephal...	ORPHA:177907
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lateral ventricle dilatation	OMIM:619995
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Aplasia of the premaxilla, Malar flattening, Alobar holo...	OMIM:157170
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus, Bifid uvula, Cleft palate	OMIM:258320
Chiari Malformation Type Ii	Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Agenesis of corpus ca...	OMIM:207950
Dandy-Walker Malformation With Postaxial Polydactyly	Microretrognathia, Dilated fourth ventricle, Hydrocephalus, Truncal ataxia, Dandy-Walker malforma...	OMIM:220220
Alexander Disease	Hydrocephalus, Ataxia, Increased CSF protein concentration, Dysmetria	OMIM:203450
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Neurofibrillary tangles, Lateral ventricle dilatation, Lewy bodies, Cerebral cortical atrophy	OMIM:607485
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Obesity, Crowded maxillary incisors	ORPHA:397973
Split Lower Lip	Abnormal lower lip morphology, Lower lip pit, Abnormality of the dentition, Narrow maxilla	OMIM:183400
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Malar flattening, Narrow palate, Short upper lip, Short philtrum, Thick ve...	ORPHA:364028
Frontorhiny	Encephalocele, Pericallosal lipoma, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Aplas...	ORPHA:391474
Maxillonasal Dysplasia	Mandibular prognathia, Hypoplasia of the maxilla, Open bite, Cleft palate, Tooth agenesis, Microd...	ORPHA:1248
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly, Polymicrogyria, Cerebellar hypoplasia, Microcephaly	OMIM:618731
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Decreased body weight	ORPHA:93945
Microphthalmia With Limb Anomalies	Macrodontia, Hypoplasia of the premaxilla, Micrognathia, Hypoplasia of the maxilla, Cleft upper l...	ORPHA:1106
Microphthalmia, Syndromic 13	Microphthalmia, Iris coloboma, Chorioretinal coloboma, Microcephaly	OMIM:300915
Keppen-Lubinsky Syndrome	Lateral ventricle dilatation, Micrognathia, Abnormally large globe, Microcephaly	OMIM:614098
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cerebral calcification, Cerebellar vermis hypoplasia, Hydrocephalus, Buphthalmos, Hypoplasia of t...	OMIM:616538
Holoprosencephaly-Caudal Dysgenesis Syndrome	Cyclopia, Abnormality of the diencephalon, Holoprosencephaly, Microcephaly	ORPHA:2165
Cockayne Syndrome Type 2	Mandibular prognathia, Anophthalmia, Delayed eruption of primary teeth, Hypoplasia of the primary...	ORPHA:90322
Adams-Oliver Syndrome 4	Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Um...	OMIM:615297
Edinburgh Malformation Syndrome	Micrognathia, Hydrocephalus, Downturned corners of mouth, Thin vermilion border, Narrow mouth, Fa...	ORPHA:1895
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Cerebral atrophy, Abnormal cerebral white matter morphology, Focal T2 hyperint...	ORPHA:79264
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Lateral ventricle dilatation, Small pituitary gland, Hypoplasia of the corpus call...	OMIM:619479
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
20P12.3 Microdeletion Syndrome	Hypoplasia of the maxilla, Narrow mouth, Malar flattening, Ventriculomegaly, Long philtrum	ORPHA:261295
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Increased CSF protein concentration, Hypoplasia of the maxilla, Inability to walk, High palate, A...	OMIM:218000
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Macrocephaly, Cavum sept...	ORPHA:457279
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
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Mandibular prognathia, Micrognathia, Hydrocephalus, Meningocele, Anencephaly, Non-...	ORPHA:1908
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Death in infancy, Absent septum pellucidum, Microcephaly, Micrognathia, Abnormal cerebral white m...	OMIM:300868
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth	OMIM:246560
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Hypoplasia of the maxilla, Premature loss of teeth, Thin vermilion border, Short philtrum	OMIM:156510
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilio...	OMIM:620114
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
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Optic disc hypoplasia, Hypoplasia of the ...	OMIM:619306
Charge Syndrome	Delayed eruption of teeth, Anophthalmia, Facial palsy, Microcephaly, Aqueductal stenosis, Optic a...	ORPHA:138
Rere-Related Neurodevelopmental Syndrome	Cerebellar vermis hypoplasia, Micrognathia, Optic atrophy, Hypoplasia of the corpus callosum, Cho...	ORPHA:494344
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Malar flattening, Hydrocephalus, Abnormal palate morphology	ORPHA:93262
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Inability to walk, Hydrocephalus, Ataxia	OMIM:618174
Focal Dermal Hypoplasia	Anophthalmia, Short metatarsal, Foot oligodactyly, Chorioretinal coloboma, Spina bifida occulta, ...	OMIM:305600
Congenital Varicella Syndrome	Microphthalmia, Cerebral cortical atrophy, Micromelia, Microcephaly	ORPHA:291
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Abnormal dental enamel morphology, Hydrocephalus, Obesity, High palate, Ma...	ORPHA:2180
Trichothiodystrophy 4, Nonphotosensitive	Microcephaly, Partial agenesis of the corpus callosum, Optic atrophy, Hypoplasia of teeth, Microp...	OMIM:234050
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra...	OMIM:617914
Gabriele-De Vries Syndrome	Malar flattening, Lateral ventricle dilatation, Cortical dysplasia, Micrognathia	OMIM:617557
Warburg Micro Syndrome 3	Microcephaly, Micrognathia, Optic atrophy, Secondary microcephaly, Hypoplasia of the corpus callo...	OMIM:614222
Temtamy Preaxial Brachydactyly Syndrome	Diastema, Deep philtrum, Talon cusp, Cleft palate, Microdontia	OMIM:605282
Hydranencephaly	Ventriculomegaly, Optic nerve hypoplasia, Thalamic edema, Cerebral cortical atrophy, Primary micr...	ORPHA:2177
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Micromelia, Micrognathia, Partial agenesis of the corpus callosum, ...	OMIM:210710
Developmental And Epileptic Encephalopathy 1	Global brain atrophy, Microphthalmia, Ventriculomegaly, Microcephaly	OMIM:308350
Microphthalmia, Isolated 4	Microphthalmia, Coloboma	OMIM:613094
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Anophthalmia, Optic atrophy, Megalopapilla, Hypoplasia of...	OMIM:615636
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
X-Linked Lissencephaly With Abnormal Genitalia	Death in infancy, Aganglionic megacolon, Microcephaly, Micrognathia, Pachygyria, Agenesis of corp...	ORPHA:452
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Hypoplasia of the maxilla, Hydrocephalus, Short philtrum, Everted lower li...	OMIM:601499
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Carious teeth, Conical incisor, Enamel hypoplasia	OMIM:614564
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Hypoplasia of the maxilla, High palate, Slender build	OMIM:300676
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Carious teeth, Hydrocephalus, Thick lower lip vermilion, Deep philtrum, Thin vermilion border, Ab...	ORPHA:2701
Hogue-Janssen Syndrome 2	Tented upper lip vermilion, Inability to walk, Hydrocephalus, Gait ataxia, Open mouth, Agenesis o...	OMIM:616362
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Spina bifida, Micrognathia, ...	ORPHA:2839
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla, Shuffling gait	OMIM:300266
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Pseudotrisomy 13 Syndrome	Encephalocele, 11 pairs of ribs, Microcephaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypop...	OMIM:264480
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Abnormal posturing, Failure to thrive, Micrognathia	OMIM:614857
Monosomy 18P	Micrognathia, Carious teeth, Microcephaly, Holoprosencephaly, Microphthalmia	ORPHA:1598
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Thin upper lip vermilion, Broad-based gait, Tented upper lip vermilion, Ataxia, Abnormality of pr...	ORPHA:438216
Pierpont Syndrome	Microcephaly, Short toe, Short foot, Short finger, Short palm, Microphthalmia, Malar flattening	OMIM:602342
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Dandy-Walker malformation, Micrognathia, Hydrocephalus, Retrognathia, Ventriculomegaly	ORPHA:163961
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Microcephaly, Micrognathia, Small hand, Sh...	OMIM:241410
Intellectual Developmental Disorder, Autosomal Dominant 65	Thick upper lip vermilion, Tented upper lip vermilion, Ataxia, Micrognathia, Noncommunicating hyd...	OMIM:619320
Progeria-Short Stature-Pigmented Nevi Syndrome	Micrognathia, Microcephaly, Dental malocclusion, Abnormal thalamus morphology, Short distal phala...	ORPHA:2959
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Micrognathia, Hydrocephalus, Obesity, Thin vermilion border, Long philtrum, Umbilical hernia, Mal...	ORPHA:171839
Microphthalmia With Limb Anomalies	Anophthalmia, Hand oligodactyly, Fibular hypoplasia, Foot oligodactyly, Microphthalmia, Retrognathia	OMIM:206920
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia	ORPHA:2975
Nance-Horan Syndrome	Supernumerary maxillary incisor, Screwdriver-shaped incisors, Mulberry molar, Diastema	OMIM:302350
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Hypoplasia of the maxilla, Failure to thrive, Small for gestational age, Slender build	OMIM:608154
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Abnormality of the dentition	ORPHA:2776
Temple Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Hydrocephalus, ...	ORPHA:254516
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Optic nerve hypoplasia, Alobar holoprosencephaly, Microcephaly, Micrognath...	OMIM:301043
Developmental And Epileptic Encephalopathy 31B	Reduced cerebral white matter volume, Optic atrophy, Colpocephaly, Secondary microcephaly, Agenes...	OMIM:620352
Cockayne Syndrome Type 1	Mandibular prognathia, Absent brainstem auditory responses, Anophthalmia, Delayed eruption of pri...	ORPHA:90321
Fanconi Anemia, Complementation Group R	Microphthalmia, Hydrocephalus, Absent thumb, Microcephaly	OMIM:617244
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Notched primary central incisor	OMIM:620062
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Microcephaly	OMIM:278780
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia, Micrognathia, Thin corpus callosum, Microcephaly	OMIM:619694
2Q24 Microdeletion Syndrome	Microphthalmia, Coloboma	ORPHA:1617
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia, Optic atrophy, Iris coloboma, Chorioretinal coloboma	ORPHA:1473
Combined Oxidative Phosphorylation Defect Type 7	Optic atrophy, Abnormal thalamic MRI signal intensity, Abnormal cerebral white matter morphology,...	ORPHA:254930
Nanophthalmos	Microphthalmia	ORPHA:35612
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Ataxia, Hypoplasia of the maxilla, Inability to walk, Thin vermilion border, High palate, Difficu...	ORPHA:481152
Pelvis-Shoulder Dysplasia	Hypoplastic scapulae, Optic disc coloboma, Short clavicles, Microphthalmia, Spina bifida occulta,...	OMIM:169550
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Abnormal dental enamel morphology, Hydrocephalus, Cleft palate, Hypoplasia of the zygomatic bone,...	ORPHA:1812
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Protruding tongue, Hydrocephalus, Retrognathia, Alveolar ridge overgrowth, Cleft palate, Thin ver...	OMIM:612938
Curry-Jones Syndrome	Megalencephaly, Lipomyelomeningocele, Hemimegalencephaly, Microphthalmia, Occipital meningocele, ...	OMIM:601707
Hydrocephalus-Obesity-Hypogonadism Syndrome	High, narrow palate, Hydrocephalus, Obesity	ORPHA:2183
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Retrognathia, Gingival overgrowth, Narrow palate, Conical incisor, Oli...	OMIM:235510
New-Onset Refractory Status Epilepticus	Focal T2 hyperintense basal ganglia lesion, Abnormal basal ganglia MRI signal intensity, Abnormal...	ORPHA:363558
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Intracerebral periventricular calcifications, Microcephaly, Decrease...	ORPHA:168577
Multicentric Carpotarsal Osteolysis Syndrome	Hypoplasia of the maxilla, Inability to walk, Micrognathia	OMIM:166300
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Hydrocephalus, Op...	OMIM:608091
Schisis Association	Encephalocele, Small for gestational age, Spina bifida, Anencephaly, Cleft palate, Unilateral cle...	ORPHA:63862
Microphthalmia, Isolated 5	Microphthalmia, Optic disc pallor, Optic disc drusen	OMIM:611040
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Absent septum pellucidum, Abnormal dental enamel morphology, Microcephaly, Microgna...	ORPHA:2556
Craniofacial Dyssynostosis With Short Stature	Malar flattening, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:218350
Intellectual Developmental Disorder, Autosomal Dominant 39	Wide mouth, Hydrocephalus, Obesity	OMIM:616521
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Umbilical hernia, Hydrocephalus, Gait disturbance, High, narrow palate	ORPHA:2181
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Gait disturbance, Holoprosencephaly	ORPHA:588
Aicardi Syndrome	Prominence of the premaxilla, Cleft upper lip, Partial agenesis of the corpus callosum, Cleft pal...	ORPHA:50
Panhypophysitis	Orthostatic hypotension, Reduced circulating prolactin concentration, Adrenocorticotropic hormone...	ORPHA:95513
Sandestig-Stefanova Syndrome	Hypoplasia of the corpus callosum, Primary microcephaly, Microphthalmia, Retrognathia, Ventriculo...	OMIM:618804
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Porencephalic cyst, Cortical dysplasia, Hypoplasia of the iris, Cerebellar hypopla...	OMIM:613001
Uruguay Faciocardiomusculoskeletal Syndrome	Waddling gait, Thick vermilion border, Everted lower lip vermilion, Difficulty walking, Retrognat...	OMIM:300280
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Microphthalmia, Cavum septum p...	OMIM:616449
Mohr Syndrome	Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Hydrocephalus...	OMIM:252100
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Iris coloboma, Coloboma	OMIM:610023
Noonan Syndrome 14	Lateral ventricle dilatation	OMIM:619745
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Spina bifida, Open bite, Abnormality of dental eruption, Dental malocclusi...	ORPHA:1327
Adenohypophysitis	Orthostatic hypotension, Reduced circulating prolactin concentration, Adrenocorticotropic hormone...	ORPHA:95512
Aarskog-Scott Syndrome	Delayed eruption of teeth, Cleft upper lip, Hypoplasia of the maxilla, Abnormality of the dentiti...	ORPHA:915
Fibular Hemimelia	Anophthalmia, Short femur, Spina bifida, Short toe, Fibular hypoplasia, Proximal femoral focal de...	ORPHA:93323
Jacobsen Syndrome	Microcephaly, Micrognathia, Missing ribs, Hydrocephalus, Optic atrophy, Macular hypoplasia, Holop...	OMIM:147791
Greig Cephalopolysyndactyly Syndrome	Umbilical hernia, Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
1Q44 Microdeletion Syndrome	Ventriculomegaly, Exaggerated cupid's bow, Micrognathia, Hydrocephalus, Thin vermilion border, Hi...	ORPHA:238769
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Short femur, Microcephaly, Lateral ventricle dilatation, Short umbilical cord, Hyp...	OMIM:618367
Facial Clefting, Oblique, 1	Microphthalmia, Coloboma	OMIM:600251
Pettigrew Syndrome	Mandibular prognathia, Ventriculomegaly, Aqueductal stenosis, Hydrocephalus, Gait ataxia, Wide mo...	OMIM:304340
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Autosomal Recessive Spastic Paraplegia Type 77	Loss of ambulation, Macrodontia of permanent maxillary central incisor, Retrognathia, Scissor gait	ORPHA:466722
Mycophenolate Mofetil Embryopathy	Micrognathia, Hydrocephalus, Chorioretinal coloboma, Short palm, Microphthalmia, Agenesis of corp...	ORPHA:268249
Meckel Syndrome, Type 2	Encephalocele, Meningocele, Anencephaly, Microphthalmia, Dandy-Walker malformation	OMIM:603194
Mohr-Tranebjaerg Syndrome	Abnormal posturing	OMIM:304700
Familial Acute Necrotizing Encephalopathy	Abnormal putamen morphology, Abnormal thalamus morphology, Cerebral edema	ORPHA:88619
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:2182
16Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Micrognathia, Colpocephaly, Biparietal narrowing, Hypoplasia of the corpu...	ORPHA:261250
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Iris coloboma	OMIM:610092
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Microretrognathia, Aplasia/Hypoplasia of the ribs, Optic nerve hypoplasia,...	ORPHA:508498
Microphthalmia, Syndromic 8	Mandibular prognathia, Microphthalmia, Microcephaly	OMIM:601349
3Mc Syndrome 2	Prominence of the premaxilla, Cleft upper lip, Cleft palate, Downturned corners of mouth, High pa...	OMIM:265050
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus, Steppage gait, Inability to walk by childhood/adolescence	ORPHA:99947
Crouzon Syndrome	Hypoplasia of the maxilla, Hydrocephalus, Narrow palate	ORPHA:207
Marden-Walker Syndrome	Microcephaly, Micrognathia, Hypoplasia of the brainstem, Cerebellar hypoplasia, Microphthalmia, I...	OMIM:248700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Type II lissencephaly, Microcephaly, Micrognathia, Hydrocephalus, Optic atrophy, Aplasia/Hypoplas...	OMIM:253280
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Japanese Encephalitis	Decreased motor nerve conduction velocity, Abnormal substantia nigra morphology, Facial palsy, Pa...	ORPHA:79139
Angelman Syndrome	Mandibular prognathia, Broad-based gait, Ataxia, Protruding tongue, Hypoplasia of the maxilla, Ob...	OMIM:105830
Infantile Sialic Acid Storage Disease	Hydrocephalus, Failure to thrive, High palate, Gingival overgrowth	OMIM:269920
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypoplasia of the pons, Cortical dysplasia, Simplified gyral pattern, Abnormal periventricular wh...	ORPHA:468631
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Triploidy	Micrognathia, Hydrocephalus, Meningocele, Non-midline cleft lip, Cleft palate, Wide mouth, Macrog...	ORPHA:3376
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Micrognathia, Widely spaced teeth, Peg-shaped maxillary lateral incisors, Microdontia	OMIM:610706
Lujan-Fryns Syndrome	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, High pala...	ORPHA:776
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Death in infancy, Focal T2 hyperintense thalamic lesion	OMIM:619046
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Delayed eruption of teeth, Microcephaly, Micrognathia, Short thumb, Anencephaly, A...	OMIM:619148
Microphthalmia, Syndromic 6	Anophthalmia, Microcephaly, Micrognathia, Aplasia/Hypoplasia of the corpus callosum, Coloboma, Ap...	OMIM:607932
Helsmoortel-Van Der Aa Syndrome	Facial palsy, Decreased response to growth hormone stimulation test, Carious teeth, Small hand, P...	OMIM:615873
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Neuroferritinopathy	Caudate atrophy, Abnormal putamen morphology, T2 hypointense thalamus, Abnormal thalamic MRI sign...	ORPHA:157846
Cerebrooculofacioskeletal Syndrome 2	Death in childhood, Microphthalmia, Micrognathia, Microcephaly	OMIM:610756
Gracile Bone Dysplasia	Aniridia, Microphthalmia, Hydrocephalus, Death in infancy	OMIM:602361
Spondyloenchondrodysplasia	Delayed eruption of teeth, Abnormal lateral ventricle morphology, Cerebral calcification, Decreas...	ORPHA:1855
Seckel Syndrome 2	Microphthalmia, Micrognathia, Cerebellar hypoplasia, Microcephaly	OMIM:606744
Emanuel Syndrome	Delayed eruption of teeth, Broad jaw, Ventriculomegaly, Dental crowding, Micrognathia, Hydrocepha...	ORPHA:96170
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Chorioretinal ...	OMIM:120200
Leigh Syndrome	Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, Diffuse spongiform l...	ORPHA:506
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Gait disturbance, Ventriculomegaly	ORPHA:272
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Microphthalmia, Agenesis of cerebellar vermis, Agenesis of corpus callosum	ORPHA:228390
Braddock-Carey Syndrome 2	Microphthalmia, Retrognathia, Microcephaly	OMIM:619981
Fraser Syndrome 1	Encephalocele, Aplasia/Hypoplasia of the thumb, Anophthalmia, Abnormal cortical gyration, Aplasia...	OMIM:219000
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Abnormal oral mucosa morphology, Abnormality of the philtrum, Hypoplasia o...	ORPHA:2673
Fg Syndrome Type 1	Broad-based gait, Dental crowding, Malar flattening, Micrognathia, Hydrocephalus, Wide mouth, Fus...	ORPHA:93932
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Small for gestational age, Micrognathia, High palate, Failure to thrive, Hyperplasia of the maxilla	OMIM:620194
Intellectual Developmental Disorder, X-Linked 30	Thin upper lip vermilion, Hydrocephalus, High palate, Open mouth, Thick upper lip vermilion	OMIM:300558
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum	OMIM:307000
Congenital Disorder Of Glycosylation, Type Iim	Mandibular prognathia, Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Cerebellar h...	OMIM:300896
Joubert Syndrome 22	Agenesis of cerebellar vermis, Temporal cortical atrophy, Coloboma, Hypoplasia of the corpus call...	OMIM:615665
Pycnodysostosis	Obtuse angle of mandible, Decreased response to growth hormone stimulation test, Delayed eruption...	ORPHA:763
Cataract 9, Multiple Types	Microphthalmia, Iris coloboma	OMIM:604219
Cat-Eye Syndrome	Microphthalmia, Iris coloboma, Chorioretinal coloboma	ORPHA:195
Acromelic Frontonasal Dysplasia	Encephalocele, Median cleft lip, Anterior pituitary hypoplasia, Meningocele, Choroid plexus cyst,...	ORPHA:1827
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Absent septum pellucidum, Abnormal cortical gyration, Aplastic clavicle, Short thum...	ORPHA:2538
Tay-Sachs Disease	Ventriculomegaly, Hypointensity of cerebral white matter on MRI, Progressive macrocephaly, Abnorm...	ORPHA:845
Kapur-Toriello Syndrome	Dysplastic corpus callosum, Polymicrogyria, Retinal coloboma, Microphthalmia, Pachygyria, Iris co...	ORPHA:2328
Ritscher-Schinzel Syndrome 3	Relative macrocephaly, Death in infancy, Hypoplasia of the ulna, Cerebellar vermis hypoplasia, Mi...	OMIM:619135
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Cleft palate, Non-midline cleft lip, Anencephaly, Spina bifida	ORPHA:2476
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Mandibular prognathia, Microcephaly, Optic atrophy, Simplified gyral pattern, Microphthalmia	OMIM:152950
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Partial agenesis of the corpus callosum, Colpocephaly, Secondary microcephaly, Short sternum, Hyp...	OMIM:620113
Lissencephaly 5	Occipital encephalocele, Hydrocephalus	OMIM:615191
Microcephaly-Capillary Malformation Syndrome	Small for gestational age, Hypoplasia of the maxilla, Cleft palate, Extra-axial cerebrospinal flu...	OMIM:614261
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Narrow mouth	ORPHA:1529
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Narrow mouth	ORPHA:83473
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia	OMIM:601809
Sandhoff Disease, Infantile Form	Cerebral cortical atrophy, Progressive macrocephaly, Abnormal thalamic MRI signal intensity	ORPHA:309155
Emanuel Syndrome	Broad jaw, Ventriculomegaly, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hy...	OMIM:609029
Chromosome 1Q41-Q42 Deletion Syndrome	Microcephaly, Cerebellar hypoplasia, Holoprosencephaly, Microphthalmia, Ventriculomegaly	OMIM:612530
Cerebellar-Facial-Dental Syndrome	Micrognathia, Dental malocclusion, Alveolar ridge overgrowth, Taurodontia, Long philtrum, Macrodo...	ORPHA:444072
Albers-Schönberg Osteopetrosis	Carious teeth, Hydrocephalus, Mandibular osteomyelitis, Abnormality of the dentition	ORPHA:53
Micro Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Micrognathia, Optic atrophy, Aplasia/Hypoplasia of th...	ORPHA:2510
Fanconi Anemia, Complementation Group G	Microphthalmia, Microcephaly	OMIM:614082
Charge Syndrome	Hypoplasia of the ulna, Anophthalmia, Facial palsy, Decreased response to growth hormone stimulat...	OMIM:214800
Orofaciodigital Syndrome Type 2	Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Submucous cleft soft palate, Un...	ORPHA:2751
Coffin-Lowry Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental morphology, Hypoplasia of t...	ORPHA:192
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Thin upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Diastem...	OMIM:300534
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Cerebellar vermis hypoplasia, Disproportionate shortening of the tibia, Lateral ventricle dilatat...	OMIM:263520
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles	OMIM:264270
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Spina bifida, Long philtrum	OMIM:211960
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Cleft palate, Long philtrum	ORPHA:90653
Joubert Syndrome With Renal Defect	Encephalocele, Ataxia, Hydrocephalus, Cleft palate, Orofacial cleft, Gait disturbance, Agenesis o...	ORPHA:220497
Cerebrooculonasal Syndrome	Anophthalmia	ORPHA:66625
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Micrognathia, Hydrocephalus, Microdontia, Dentinogenesis imperfecta	OMIM:112240
Greig Cephalopolysyndactyly Syndrome	Umbilical hernia, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:175700
6P22 Microdeletion Syndrome	Hydrocephalus, Abnormal palate morphology	ORPHA:251046
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Persistence of primary teeth, Carious teeth, Mandibular osteomyelitis, Hyd...	OMIM:259710
Ritscher-Schinzel Syndrome 1	Decreased response to growth hormone stimulation test, Micrognathia, Hydrocephalus, Cleft palate,...	OMIM:220210
Rubinstein-Taybi Syndrome 1	Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, High palate, Spina...	OMIM:180849
Combined Oxidative Phosphorylation Defect Type 23	Abnormal basal ganglia MRI signal intensity, Abnormal thalamic MRI signal intensity	ORPHA:444013
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Tented upper lip vermilion, Ataxia, Hydrocephalus, Craniofacial osteosclerosis,...	OMIM:618476
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Relative macrocephaly, Periventricular leukomalacia, Optic nerve hypoplasia, Absent thumb, Hypopl...	ORPHA:500150
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening	OMIM:241310
Developmental And Speech Delay Due To Sox5 Deficiency	Exaggerated median tongue furrow, Dental crowding, Narrow palate, Hyperplasia of the maxilla	ORPHA:313892
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Rhizomelia, Coloboma, Macrocephaly, Microphthalmia	OMIM:615877
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Cleft palate, Micrognathia	OMIM:243440
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus, High palate, Long philtrum, Malar flattening, Failure to thrive, Agenesis of corpu...	OMIM:612940
Xk Aprosencephaly Syndrome	Microphthalmia, Microcephaly	ORPHA:3469
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Diastema, Short philtrum	OMIM:619142
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Micrognathia, Hydrocephalus, Cleft palate, Widely spaced teeth, Agenesis of corpus callosum, Dand...	ORPHA:459061
Weiss-Kruszka Syndrome	Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly	OMIM:618619
Aicardi-Goutieres Syndrome 4	Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis	OMIM:610333
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus, Gait disturbance	OMIM:236690
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Hypoplasia of the maxilla, High palate	ORPHA:85279
Microphthalmia, Syndromic 9	Neonatal death, Anophthalmia, Bilateral microphthalmos, Micrognathia	OMIM:601186
Pfeiffer Syndrome	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Hydrocephalus, High palate	OMIM:101600
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Relative macrocephaly, Micrognathia, Coloboma, Macrocephaly, Microphthalmia, Cavum septum pellucidum	OMIM:617306
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Hydrocephalus, Narro...	ORPHA:87
Gorlin Syndrome	Mandibular prognathia, Hydrocephalus, Carious teeth	ORPHA:377
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus, Small for gestational age, Gait disturbance	OMIM:613330
Coach Syndrome 2	Hydrocephalus, Agenesis of corpus callosum	OMIM:619111
Krabbe Disease	Hydrocephalus, Failure to thrive, Increased CSF protein concentration	OMIM:245200
Tenorio Syndrome	Mandibular prognathia, Hydrocephalus, Wide mouth, Macroglossia, Gait disturbance, Recurrent aphth...	OMIM:616260
Marshall Syndrome	Malar flattening, Micrognathia, Absent frontal sinuses, Thick lower lip vermilion, Pierre-Robin s...	OMIM:154780
Chromosome 1P36 Deletion Syndrome, Distal	11 pairs of ribs, Optic disc pallor, Microcephaly, Hydrocephalus, Polymicrogyria, Optic atrophy, ...	OMIM:607872
L1 Syndrome	Aqueductal stenosis, Hydrocephalus, Gait disturbance	ORPHA:275543
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Ring Chromosome 10 Syndrome	Microphthalmia, Aganglionic megacolon, Micrognathia	ORPHA:1438
Congenital Disorder Of Glycosylation, Type Iq	Cerebellar vermis hypoplasia, Optic atrophy, Coloboma, Microphthalmia, Polymicrogyria	OMIM:612379
Fryns Syndrome	Aganglionic megacolon, Micrognathia, Microphthalmia, Dandy-Walker malformation, Agenesis of corpu...	ORPHA:2059
Vitamin K Antagonist Embryofetopathy	Macroglossia, Myelomeningocele, Hydrocephalus	ORPHA:1914
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
1Q21.1 Microdeletion Syndrome	Microcephaly, Hydrocephalus, Short foot, Microphthalmia, Agenesis of corpus callosum, Iris coloboma	ORPHA:250989
Czeizel-Losonci Syndrome	Spina bifida, Micrognathia, Myelomeningocele, Hydrocephalus, High palate, Spina bifida occulta	ORPHA:2437
Keipert Syndrome	Hypoplasia of the maxilla, Tented upper lip vermilion, Exaggerated cupid's bow	ORPHA:2662
Orofaciodigital Syndrome I	Microretrognathia, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Myelome...	OMIM:311200
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, ...	ORPHA:861
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Microcephaly, Colpocephaly, Hypoplasia of ...	OMIM:617260
Crouzon Syndrome	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Hydrocephalus, High palate	OMIM:123500
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Relative macrocephaly, Microretrognathia, Natal tooth, Rhizomelia, Short tibia, Hy...	OMIM:616300
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Sporadic Infantile Bilateral Striatal Necrosis	Gait ataxia, Abnormal posturing, Gait disturbance, Titubation	ORPHA:225147
Adams-Oliver Syndrome	Encephalocele, Hydrocephalus, Porencephalic cyst, Absent toe, Absent hand, Microphthalmia, Perive...	ORPHA:974
Meningioma	Enlarged pituitary gland, Papilledema, Hypothalamic hypothyroidism, Facial palsy, Reduced circula...	ORPHA:2495
Cousin Syndrome	Hypoplastic scapulae, Rhizomelia, Micrognathia, Hydrocephalus, Mesomelia, Macrocephaly, Hydranenc...	OMIM:260660
Chromosome 6Pter-P24 Deletion Syndrome	Tented upper lip vermilion, Dental crowding, Malar flattening, Cleft upper lip, Hydrocephalus, Hi...	OMIM:612582
Cerebellofaciodental Syndrome	Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion, Ventriculom...	OMIM:616202
Linear Skin Defects With Multiple Congenital Anomalies 1	Absent septum pellucidum, Microcephaly, Hydrocephalus, Colpocephaly, Microphthalmia, Agenesis of ...	OMIM:309801
Oculocerebral Hypopigmentation Syndrome, Preus Type	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Abnormality of the diencephalon	ORPHA:2720
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Small for gestational age, Hypoplasia of the ma...	OMIM:101800
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Dental crowding, Hypoplasia of the maxilla, Thick lower lip vermilion, Ti...	ORPHA:293939
Diabetic Embryopathy	Hydrocephalus, Micrognathia, Cleft palate, Spinal dysraphism	ORPHA:1926
Pontocerebellar Hypoplasia, Type 7	Ataxia, Micrognathia, Hydrocephalus, Deep philtrum, Choreoathetosis, High palate, Tongue fascicul...	OMIM:614969
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Thin upper lip vermilion, Abnormal dental enamel morphology, Micrognathia,...	ORPHA:439822
Moebius Syndrome	Micrognathia, Facial diplegia, Hypoplasia of the brainstem, Lower limb undergrowth, Microphthalmi...	OMIM:157900
Vici Syndrome	Everted upper lip vermilion, Median cleft lip, Micrognathia, Cleft upper lip, Cleft palate, High ...	OMIM:242840
Cerebrofacioarticular Syndrome	Irregular dentition, Ataxia, Micrognathia, Hypoplasia of the maxilla, Dysplastic corpus callosum,...	ORPHA:314679
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly, Open mouth, Gait ataxia	OMIM:616355
Myopathy, Centronuclear, X-Linked	High palate, Hydrocephalus, Dental malocclusion, Dandy-Walker malformation	OMIM:310400
Trisomy 17P	Micrognathia, Hydrocephalus, Orofacial cleft, Cleft palate, Wide mouth, Macroglossia, High palate...	ORPHA:261290
Joubert Syndrome With Ocular Defect	Encephalocele, Ataxia, Hydrocephalus, Cleft palate, Orofacial cleft, Gait disturbance, Agenesis o...	ORPHA:220493
Jackson-Weiss Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Abnormal palate morphology	ORPHA:1540
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor	OMIM:602400
Martsolf Syndrome 1	Enlarged sylvian cistern, Short metacarpal, Microcephaly, Micrognathia, Hypoplasia of the maxilla...	OMIM:212720
Congenital Disorder Of Glycosylation, Type Iil	Hydrocephalus, Retrognathia, Enamel hypoplasia, Failure to thrive, Ventriculomegaly	OMIM:614576
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo...	ORPHA:50814
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Anophthalmia, Remnants of the hyaloid vascular system, Microcephaly, P...	OMIM:300166
Rabin-Pappas Syndrome	Mandibular prognathia, Failure to thrive in infancy, Micrognathia, Hydrocephalus, Obesity, Malar ...	OMIM:620155
Galloway-Mowat Syndrome 1	Dandy-Walker malformation, Microcephaly, Micrognathia, Optic atrophy, Cerebral atrophy, Hypoplasi...	OMIM:251300
Xeroderma Pigmentosum, Complementation Group B	Microcephaly, Decreased nerve conduction velocity, Basal ganglia calcification, Optic atrophy, Mi...	OMIM:610651
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Anophthalmia, Hypoplasia of the maxilla, Aniridia, Umbilical hernia	ORPHA:1101
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Conical...	ORPHA:289
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Short distal phalanx of the thumb, Spina bifida, Hydrocephalus, Short ribs...	OMIM:109400
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Failure of eruption of permanent teeth, Hypoplasia of the olfactory bulb, Microphth...	ORPHA:2250
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Short foot, Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele	OMIM:607597
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Cleft upper lip, Hyd...	OMIM:239300
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Lateral ventricle dilatation, Iris coloboma	OMIM:181270
2Q31.1 Microdeletion Syndrome	Microcephaly, Micrognathia, Optic disc coloboma, Short foot, Coloboma, Short palm, Microphthalmia...	ORPHA:251014
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula	ORPHA:2736
Rapp-Hodgkin Syndrome	Conical tooth, Hypoplasia of the maxilla, Carious teeth, Cleft upper lip, Velopharyngeal insuffic...	OMIM:129400
Mosaic Trisomy 9	Spina bifida, Microcephaly, Micrognathia, Micromelia, Biparietal narrowing, Microphthalmia, Dandy...	ORPHA:99776
Isolated Cleft Lip	Small for gestational age, Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-mi...	ORPHA:199302
B4Galt1-Cdg	Thin upper lip vermilion, Small for gestational age, Hydrocephalus, Long philtrum, Dandy-Walker m...	ORPHA:79332
Frontofacionasal Dysplasia	Encephalocele, Hypoplasia of olfactory tract, Hypoplasia of the corpus callosum, Microphthalmia, ...	ORPHA:1791
Chromosome 13Q14 Deletion Syndrome	Absent septum pellucidum, Micrognathia, Umbilical hernia, Holoprosencephaly, Hypoplasia of the co...	OMIM:613884
Orofaciodigital Syndrome Vi	11 pairs of ribs, Cerebellar vermis hypoplasia, Short femur, Micrognathia, Porencephalic cyst, Hy...	OMIM:277170
Oculogastrointestinal Neurodevelopmental Syndrome	Coloboma, Bilateral microphthalmos, Unilateral microphthalmos, Microcephaly	OMIM:619318
15Q Overgrowth Syndrome	Mandibular prognathia, Microretrognathia, Dandy-Walker malformation, Dental crowding, Micrognathi...	ORPHA:314585
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence...	ORPHA:364577
Andersen Cardiodysrhythmic Periodic Paralysis	Thin upper lip vermilion, Dental crowding, Short mandibular rami, Persistence of primary teeth, H...	OMIM:170390
Meckel Syndrome, Type 5	Microphthalmia, Occipital encephalocele, Anencephaly	OMIM:611561
Desmosterolosis	Micrognathia, Hydrocephalus, Submucous cleft hard palate, Retrognathia, Cleft palate, Narrow mout...	ORPHA:35107
Carpenter Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Persistence of primary teeth, Obesity, Agenesis of perma...	OMIM:201000
Desmosterolosis	Micrognathia, Hydrocephalus, Partial agenesis of the corpus callosum, Alveolar ridge overgrowth, ...	OMIM:602398
Acute Disseminated Encephalomyelitis	Hypointensity of cerebral white matter on MRI, Diffuse white matter abnormalities, Abnormal thala...	ORPHA:83597
Chronic Bilirubin Encephalopathy	Abnormal thalamic MRI signal intensity, Abnormal auditory evoked potentials	ORPHA:529808
Acute Bilirubin Encephalopathy	Abnormal thalamic MRI signal intensity, Abnormal auditory evoked potentials	ORPHA:529799
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Thin upper lip vermilion, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Deep philtrum...	OMIM:309520
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hydrocephalus, Pituitary hypothyroidism, Abnormality o...	ORPHA:91350
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Cleft upper lip, Hypoplasia of the maxilla, Cleft...	OMIM:305400
Neu-Laxova Syndrome 1	Spina bifida, Micrognathia, Micromelia, Choroid plexus cyst, Stillbirth, Lissencephaly, Cerebella...	OMIM:256520
Iniencephaly	Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Orofacial cleft, Spina...	ORPHA:63259
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth, Microdonti...	ORPHA:1307
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly	ORPHA:93274
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Secondary microcephaly, Coloboma	OMIM:618652
Waardenburg Syndrome Type 1	Mandibular prognathia, Tented upper lip vermilion, Spina bifida, Cleft upper lip, Meningocele, Cl...	ORPHA:894
Warburg Micro Syndrome 4	Decreased motor nerve conduction velocity, Perisylvian polymicrogyria, Optic atrophy, Secondary m...	OMIM:615663
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Micrognathia	ORPHA:2547
Tetrasomy 15Q26	Microretrognathia, Hydrocephalus, High palate, Dandy-Walker malformation	OMIM:614846
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Mandibular prognathia, Optic disc pallor, Cerebellar vermis hypoplasia, Microcephaly, Colpocephal...	OMIM:620083
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Microphthalmia, Coloboma	OMIM:167730
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus, Cleft palate, Cleft upper lip	ORPHA:398189
Hallermann-Streiff Syndrome	Natal tooth, Spina bifida, Microcephaly, Micrognathia, Supernumerary tooth, Optic disc coloboma, ...	OMIM:234100
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Tented upper lip vermilion, Dysplastic corpus callosum, Hydrocephalus, Short ph...	OMIM:617281
Fountain Syndrome	Craniofacial hyperostosis, Spina bifida, Thick lower lip vermilion, Gingival overgrowth, Wide mou...	ORPHA:3219
Otopalatodigital Syndrome Type 2	Encephalocele, Micrognathia, Myelomeningocele, Hydrocephalus, Hypoplastic frontal sinuses, Pierre...	ORPHA:90652
Osteopetrosis, Autosomal Recessive 1	Carious teeth, Hydrocephalus, Failure to thrive, Calvarial osteosclerosis	OMIM:259700
Dysostosis, Stanescu Type	Abnormal dental enamel morphology, Abnormality of the dentition, Hypoplasia of the maxilla, Cario...	ORPHA:1798
Monosomy 9Q22.3	Delayed eruption of teeth, Hydrocephalus, Umbilical hernia, Calcification of falx cerebri, Macroc...	ORPHA:77301
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Obesity, Orofacial cleft, Ventriculomegaly	OMIM:615630
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Cockayne Syndrome B	Mandibular prognathia, Abnormal auditory evoked potentials, Microcephaly, Decreased nerve conduct...	OMIM:133540
Mandibulofacial Dysostosis-Microcephaly Syndrome	Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Malar flattening	ORPHA:79113
Congenital Heart Defects And Skeletal Malformations Syndrome	Dental crowding, Carious teeth, Downturned corners of mouth, Thin vermilion border, High palate, ...	OMIM:617602
Trisomy 18	Microretrognathia, Spina bifida, Microcephaly, Anencephaly, Aplasia/Hypoplasia of the corpus call...	ORPHA:3380
Meckel Syndrome 14	Microretrognathia, Occipital encephalocele, Micrognathia, Holoprosencephaly, Microphthalmia, Retr...	OMIM:619879
Muenke Syndrome	Malar flattening, Hydrocephalus, High, narrow palate	ORPHA:53271
Choreoacanthocytosis	Caudate atrophy, Temporomandibular joint crepitus, Abnormal putamen morphology, Decreased amplitu...	ORPHA:2388
Kabuki Syndrome 1	Micrognathia, Microcephaly, Hydrocephalus, Lateral ventricle dilatation, Short 5th finger	OMIM:147920
Pallister-Hall Syndrome	Natal tooth, Decreased response to growth hormone stimulation test, Short 4th metacarpal, Holopro...	OMIM:146510
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus	OMIM:300886
Cohen Syndrome	Failure to thrive in infancy, Aplasia/Hypoplasia of the tongue, Macrodontia, Micrognathia, Hypopl...	ORPHA:193
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Eunuchoid habitus, Mandibular prognathia, Elevated circulating luteinizing hormone level, Hypopla...	ORPHA:3044
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Microcephaly, Micrognathia, Holoprosencephaly, Hypoplasia of the...	ORPHA:1587
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Monosomy 18Q	Mandibular prognathia, Hydrocephalus, Downturned corners of mouth, Wide mouth, Choreoathetosis, H...	ORPHA:1600
Cleft Velum	Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate	ORPHA:99772
Dystonia 1, Torsion, Autosomal Dominant	Inability to walk, Abnormal posturing	OMIM:128100
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Ataxia, Non-midline cleft lip, Meningocele, Bilateral cleft lip and palate, Tooth agenesis	ORPHA:2003
Nance-Horan Syndrome	Mandibular prognathia, Microphthalmia, Supernumerary tooth, Short metacarpal	ORPHA:627
Cerebrooculofacioskeletal Syndrome 4	Microcephaly, Micrognathia, Bilateral microphthalmos, Simplified gyral pattern, Cerebellar hypopl...	OMIM:610758
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Deep philtrum, Micrognathia	ORPHA:1237
Blepharocheilodontic Syndrome 1	Neural tube defect, Hypodontia, Cleft upper lip, Conical tooth	OMIM:119580
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ...	OMIM:184705
Khan-Khan-Katsanis Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Micrognathia, Buphthalmos, Colpocephaly, Ventriculome...	OMIM:618460
Metatropic Dysplasia	Hydrocephalus, Cleft palate	ORPHA:2635
Galloway-Mowat Syndrome 3	Microcephaly, Micrognathia, Simplified gyral pattern, Cerebral atrophy, Lissencephaly, Hypoplasia...	OMIM:617729
Nager Syndrome	Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip, Cleft palate, Wide mouth, Hypopla...	ORPHA:245
Raine Syndrome	Mandibular prognathia, Natal tooth, Micrognathia, Microdontia, Protruding tongue, Hydrocephalus, ...	OMIM:259775
Linear Nevus Sebaceus Syndrome	Cerebral calcification, Porencephalic cyst, Aplasia/Hypoplasia of the corpus callosum, Biparietal...	ORPHA:2612
Odontoonychodermal Dysplasia	Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary...	OMIM:257980
Neurodevelopmental Disorder With Language Delay And Seizures	Diffuse cerebral atrophy, Thin corpus callosum, Hypothalamic hamartoma	OMIM:619908
Fibrous Dysplasia Of Bone	Antalgic gait, Elevated circulating growth hormone concentration, Abnormal zygomatic bone morphol...	ORPHA:249
Heart And Brain Malformation Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, ...	OMIM:616920
Cole-Carpenter Syndrome 2	Microretrognathia, Hydrocephalus, High palate, Dentinogenesis imperfecta	OMIM:616294
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Micrognathia, Hydrocephalus, Cleft palate, Malar flattening	OMIM:224400
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Cleft palate	OMIM:607361
Microphthalmia, Lenz Type	Delayed eruption of teeth, Microcephaly, Optic disc coloboma, Aplasia/Hypoplasia of the corpus ca...	ORPHA:568
Meckel Syndrome, Type 1	Dilated fourth ventricle, Occipital encephalocele, Natal tooth, Microcephaly, Micrognathia, Large...	OMIM:249000
Osteopathia Striata With Cranial Sclerosis	Natal tooth, Paranasal sinus hypoplasia, Dental crowding, Micrognathia, Cleft upper lip, Hydrocep...	OMIM:300373
Mosaic Variegated Aneuploidy Syndrome 1	Ventriculomegaly, Small for gestational age, Micrognathia, Hydrocephalus, Cleft palate, Long phil...	OMIM:257300
Mend Syndrome	Abnormal auditory evoked potentials, Micrognathia, Hydrocephalus, Hypoplasia of the corpus callos...	ORPHA:401973
Fraser Syndrome	Encephalocele, Death in infancy, Anophthalmia, Microcephaly, Myelomeningocele, Dental malocclusio...	ORPHA:2052
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Hypoplasia of the maxilla, Thick vermilion border, Long philtrum	ORPHA:228396
Nasopalpebral Lipoma-Coloboma Syndrome	Microcephaly, Hypoplasia of the maxilla, Bilateral microphthalmos, Coloboma, Microphthalmia	ORPHA:2399
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Hydro...	ORPHA:91348
Lateral Meningocele Syndrome	Dental crowding, Micrognathia, Hydrocephalus, Meningocele, Cleft palate, High palate, Long philtr...	OMIM:130720
Marshall Syndrome	Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, Hypoplastic frontal sinuse...	ORPHA:560
Meier-Gorlin Syndrome 4	Micrognathia, Hypoplasia of the maxilla, Thick lower lip vermilion, Narrow mouth, Failure to thrive	OMIM:613804
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Acropectorovertebral Dysplasia	High, narrow palate, Cleft palate, Spina bifida	ORPHA:957
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Abnormal cortical gyration, Pachygyria, Exencephaly, Macrogyria, Lissencephaly, Po...	ORPHA:2211
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Stillbirth	OMIM:276950
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos, Optic atrophy, Facial palsy, Macrocephaly	OMIM:615085
Congenital Myopathy 22A, Classic	Waddling gait, Dental crowding, Micrognathia, Normal pressure hydrocephalus, High palate, Neonata...	OMIM:620351
Atelosteogenesis, Type Iii	Hypoplasia of the maxilla, Malar flattening, Cleft palate, Micrognathia	OMIM:108721
Mosaic Variegated Aneuploidy Syndrome	Microcephaly, Micrognathia, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Aplasia...	ORPHA:1052
Aase-Smith Syndrome I	Open mouth, Hydrocephalus, Dandy-Walker malformation, Cleft palate	OMIM:147800
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Malar flattening, Micrognathia, Hypoplasia of the maxilla,...	OMIM:164210
Peters-Plus Syndrome	Thin upper lip vermilion, Short lingual frenulum, Bilateral cleft lip, Exaggerated cupid's bow, M...	OMIM:261540
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Microcephaly, Missing ribs, Hypoplasia o...	ORPHA:3186
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Hydrocephalus, Gingival overgrowth, Narrow palate, High palate, Narrow mouth, Malar ...	OMIM:123790
Hydrolethalus Syndrome 1	Absent septum pellucidum, Abnormal cortical gyration, Micrognathia, Anencephaly, Upper limb under...	OMIM:236680
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Microcephaly	ORPHA:290
Nevus Comedonicus Syndrome	Spina bifida occulta, Spina bifida	ORPHA:64754
Skin Creases, Congenital Symmetric Circumferential, 1	Micrognathia, Microcephaly, Hypoplasia of the corpus callosum, Microphthalmia, Dandy-Walker malfo...	OMIM:156610
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Small pituitary gland, Nasofrontal encephalocele, Ventriculomegaly	OMIM:614195
Fetal Alcohol Syndrome	Microphthalmia, Micrognathia, Biparietal narrowing, Microcephaly	ORPHA:1915
Axenfeld-Rieger Syndrome	Hypoplasia of the maxilla, Microdontia, Everted lower lip vermilion, Hypodontia	ORPHA:782
Peho Syndrome	Ventriculomegaly, Hydrocephalus, Gingival overgrowth, Abnormal upper lip morphology, Malar flatte...	ORPHA:2836
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Absent thumb, Micrognathia, Absent radius, Hydrocephalus, Cerebellar hypoplas...	OMIM:614083
Endocrine-Cerebroosteodysplasia	Natal tooth, Thick upper lip vermilion, Median cleft lip, Bilateral cleft lip, Micrognathia, Hydr...	OMIM:612651
Oxoglutaric Aciduria	Hydrocephalus, Ataxia, Abnormal salivary gland morphology	ORPHA:31
Peroxisome Biogenesis Disorder 5A (Zellweger)	Death in infancy, Micrognathia, Optic nerve dysplasia, Optic atrophy, Macrogyria, Death in adoles...	OMIM:614866
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Difficulty walking, Occipit...	ORPHA:268810
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Selective tooth agenesis, Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Cleft palate...	OMIM:106260
Fanconi Anemia, Complementation Group S	Microphthalmia, Dental malocclusion, Microcephaly	OMIM:617883
Ehlers-Danlos Syndrome, Classic Type, 1	Umbilical hernia, Irregularly spaced teeth, Recurrent sinusitis, Narrow maxilla	OMIM:130000
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open bite, Open mouth	ORPHA:950
Duane-Radial Ray Syndrome	Hypoplasia of the ulna, Short humerus, Optic disc hypoplasia, Aganglionic megacolon, Facial palsy...	OMIM:607323
Joubert Syndrome	Encephalocele, Ataxia, Hydrocephalus, Orofacial cleft, Gait disturbance	ORPHA:475
Genitopalatocardiac Syndrome	Micrognathia, Hydrocephalus, Non-midline cleft lip, Cleft palate, Downturned corners of mouth	ORPHA:2075
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Wide mouth, Hydrocephalus, Failure to thrive, Ventriculomegaly	ORPHA:60040
Genitourinary And/Or Brain Malformation Syndrome	Absent septum pellucidum, Micrognathia, Dysplastic corpus callosum, Colpocephaly, Secondary micro...	OMIM:618820
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Micrognathia	ORPHA:3191
Nasu-Hakola Disease	Hydrocephalus, Ventriculomegaly	ORPHA:2770
Bartsocas-Papas Syndrome 2	Microphthalmia, Small hand, Micrognathia	OMIM:619339
Branchiooculofacial Syndrome	Anophthalmia, Agenesis of cerebellar vermis, Facial palsy, Microcephaly, Micrognathia, Short thum...	OMIM:113620
Warburg Micro Syndrome 2	Microcephaly, Optic atrophy, Secondary microcephaly, Hypoplasia of the corpus callosum, Microphth...	OMIM:614225
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Micrognathia, Hydrocephalus, Choroid plexus cyst, Ventriculomegaly	OMIM:617866
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia, Optic atrophy, Microcephaly	ORPHA:2526
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Delayed eruption of teeth, Agenesis of cerebellar vermis, Cerebellar vermi...	ORPHA:261537
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Retrog...	ORPHA:2462
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Microcephaly, Absent radiu...	ORPHA:1352
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, High palate, Micrognathia	OMIM:614437
Trisomy 20P	Spina bifida, Micrognathia, Abnormality of the dentition, Downturned corners of mouth, Abnormal p...	ORPHA:261318
Tetrasomy 5P	Micrognathia, Hydrocephalus, High palate, Long philtrum, Failure to thrive	ORPHA:3309
Phace Syndrome	Optic nerve hypoplasia, Microcephaly, Lens coloboma, Cerebellar hypoplasia, Microphthalmia, Agene...	ORPHA:42775
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Abnormal thalamic MRI signal intensity	ORPHA:70595
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Micrognathia, Optic atrophy, ...	OMIM:616975
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Dental crowding, Micrognathia, High, narrow palate, Meningocele, High ...	ORPHA:2789
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Bickerstaff Brainstem Encephalitis	Decreased motor nerve conduction velocity, Facial palsy, Abnormal thalamic MRI signal intensity, ...	ORPHA:79138
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia of the maxilla, T...	ORPHA:238468
3C Syndrome	Ventriculomegaly, Micrognathia, High, narrow palate, Hydrocephalus, Cleft palate, Orofacial cleft...	ORPHA:7
Acrofacial Dysostosis, Cincinnati Type	Micrognathia, Hypoplasia of the maxilla, Cleft palate, Decreased body weight, Retrognathia, Aplas...	OMIM:616462
Andersen-Tawil Syndrome	Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence of primary te...	ORPHA:37553
Holoprosencephaly 14	Ventriculomegaly, Median cleft lip, Alobar holoprosencephaly, Aqueductal stenosis, Cleft lip, Hyd...	OMIM:619895
Cole-Carpenter Syndrome	Communicating hydrocephalus, Delayed eruption of teeth, Abnormal dental enamel morphology, Microg...	ORPHA:2050
Distal Triplication 15Q	Micrognathia, Large for gestational age, Hydrocephalus, High palate, Retrognathia, Dandy-Walker m...	ORPHA:314588
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Stevenson-Carey Syndrome	Microphthalmia, Coloboma, Cerebellar hypoplasia, Hypoplasia of the corpus callosum	OMIM:611961
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hydrocephalus, Narrow palate, Cleft palate, Tooth agenesis, Hypoplasia of the zygomatic bone, Nar...	ORPHA:1555
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Palate fistula, Bilateral cleft lip	OMIM:616788
Isolated Klippel-Feil Syndrome	Cleft palate, Spina bifida	ORPHA:2345
Fanconi Anemia, Complementation Group D2	Microcephaly, Absent thumb, Short thumb, Hydrocephalus, Absent radius, Aplasia of the 1st metacar...	OMIM:227646
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Cerebellar vermis hypoplasia, Large basal ganglia, Agenesis of corpus call...	ORPHA:261552
Cleidocranial Dysplasia 2	Hypoplasia of the maxilla, Supernumerary tooth, Failure to thrive, Delayed eruption of primary teeth	OMIM:620099
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Hemiatrophy of upper limb, Microphthalmia, Micrognathia	ORPHA:163649
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Broad-based gait, Micrognathia, Abnormality of the gingiva, Absent c...	ORPHA:513456
Aceruloplasminemia	Abnormal thalamic MRI signal intensity, Abnormal corpus striatum morphology	ORPHA:48818
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Posterior lenticonus, Chorioretinal coloboma, Microphtha...	ORPHA:231736
Griscelli Syndrome	Encephalocele, Hydrocephalus, Ataxia	ORPHA:381
Cerebrocostomandibular Syndrome	Spina bifida, Micrognathia, Myelomeningocele, Meningocele, Cleft palate, Glossoptosis, Hydranence...	ORPHA:1393
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Meier-Gorlin Syndrome 5	Micrognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Thick vermilion border, Lon...	OMIM:613805
8Q22.1 Microdeletion Syndrome	Hypoplasia of the maxilla, Long philtrum, Submucous cleft hard palate, Abnormality of the dentition	ORPHA:178303
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Micrognathia, Hydrocephalus, Cleft palate, Narrow mouth	ORPHA:1865
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Everted upper lip vermilion, Micrognathia, Hydrocephalus, Deep philtrum, Short philtrum	OMIM:619951
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Alkuraya-Kucinskas Syndrome	Micrognathia, Hydrocephalus, High palate, Dandy-Walker malformation, Ventriculomegaly	OMIM:617822
Holoprosencephaly 1	Microcephaly, Alobar holoprosencephaly, Cerebellar hypoplasia, Microphthalmia, Cyclopia, Ethmocep...	OMIM:236100
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Umbilical hernia, Micrognathia, Microcephaly	ORPHA:2505
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pericallosal lipoma, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the frontal sinuses, Craniu...	ORPHA:306542
47,Xyy Syndrome	Increased circulating gonadotropin level, Hydrocephalus, Malar flattening	ORPHA:8
Icf Syndrome	Communicating hydrocephalus, Protruding tongue, Micrognathia, Macroglossia, Umbilical hernia	ORPHA:2268
Caudal Duplication	Myelomeningocele, Spina bifida	ORPHA:1756
Thanatophoric Dysplasia	Hydrocephalus, Ventriculomegaly	ORPHA:2655
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Ap...	ORPHA:3472
Neu-Laxova Syndrome 2	Spina bifida, Micrognathia, Cleft palate, High palate, Ventriculomegaly	OMIM:616038
Doors Syndrome	Thin upper lip vermilion, Short lingual frenulum, Abnormality of the dentition, Thick lower lip v...	ORPHA:79500
Ctcf-Related Neurodevelopmental Disorder	Thin upper lip vermilion, Small for gestational age, Abnormality of the dentition, Cleft palate, ...	ORPHA:363611
Proteus-Like Syndrome	Communicating hydrocephalus, Hydrocephalus, Mandibular prognathia, Open bite	ORPHA:2969
Gorlin-Chaudhry-Moss Syndrome	Hypoplasia of the maxilla, Umbilical hernia, Oligodontia, Abnormality of the dentition	ORPHA:2095
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Thin upper lip vermilion, Hydrocephalus, Downturned corners of mouth, Wide mouth, High palate, Ma...	OMIM:618590
Fanconi Anemia, Complementation Group J	Microphthalmia, Short thumb	OMIM:609054
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus, Downturned corners of mouth, Micrognathia	ORPHA:1064
Histiocytoid Cardiomyopathy	Hydrocephalus, Optic atrophy, Microphthalmia, Agenesis of corpus callosum, Congenital aphakia	ORPHA:137675
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Aqueductal stenosis, Hydrocephalus, Frontotemporal cerebral atroph...	OMIM:619534
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Hemiatrophy, Microphthalmia, Dandy-Walker malformation, Malar flattening, Ventriculom...	OMIM:302960
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Mandibular prognathia, Exaggerated cupid's bow, Micrognathia, Aqueductal stenosis, Narrow mouth, ...	OMIM:619512
Plasminogen Deficiency, Type I	Ventriculomegaly, Hydrocephalus, Gingival overgrowth, Gingivitis, Periodontitis, Dandy-Walker mal...	OMIM:217090
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Macrocephaly, Retrognathia, Microcephaly	OMIM:620098
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Microphthalmia, Inferior cerebellar vermis hypoplasia, Retinal coloboma	OMIM:618571
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Hydrocephalus, Hypoplasia of the zygomatic bone, Short ...	OMIM:613603
7Q11.23 Microduplication Syndrome	Thin upper lip vermilion, Short lingual frenulum, Micrognathia, Diastema, Hydrocephalus, Unsteady...	ORPHA:96121
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Persistence of primary teeth, Dental malocclusion, Optic atrophy, Microphthalmia, Enamel hypoplas...	OMIM:618727
Oculoauricular Syndrome	Short mandibular rami, Phthisis bulbi, Macular hypoplasia, Retinal coloboma, Microphakia, Chorior...	OMIM:612109
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Shprintzen-Goldberg Craniosynostosis Syndrome	Micrognathia, Hypoplasia of the maxilla, Hydrocephalus, Dental malocclusion, Narrow palate, High ...	OMIM:182212
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Cerebellar vermis hypoplasia, Cerebral atrophy, Hypoplasia of the corpus callosum, Microphthalmia...	OMIM:618494
Van Maldergem Syndrome 1	Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Dental ...	OMIM:601390
Congenital Sialidosis Type 2	Ataxia, Protruding tongue, Hydrocephalus, Gingival overgrowth, Dysmetria, Umbilical hernia	ORPHA:93400
Familial Exudative Vitreoretinopathy	Microphthalmia, Abnormal optic disc morphology, Microcephaly	ORPHA:891
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Microcephaly, Unilateral microphthalmos, Macrocephaly, Malar flattening, Enamel hypoplasia, Polym...	OMIM:618874
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Retinal coloboma	ORPHA:363741
Frontonasal Dysplasia 2	Encephalocele, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Microcephaly, Hypopla...	OMIM:613451
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Natal tooth, Abnormal lateral ventricle morphology, Dental crowding, Micrognathia, Carious teeth,...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Natal tooth, Abnormal lateral ventricle morphology, Dental crowding, Micrognathia, Carious teeth,...	ORPHA:353277
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Hydrocephalus, Thick lower lip vermilion, Macroglossia, Widely spaced ...	OMIM:309900
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max...	OMIM:211380
Wildervanck Syndrome	Meningocele	ORPHA:3456
Trichothiodystrophy	Cerebral dysmyelination, Microcephaly, Carious teeth, Hypoplasia of mandible relative to maxilla,...	ORPHA:33364
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Decreased response to growth hormone stimulation test, Micrognathia, Hydro...	OMIM:616007
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Cerebellar hypoplasia	OMIM:618805
Cardiofaciocutaneous Syndrome 1	Micrognathia, Open bite, Abnormality of the dentition, Hydrocephalus, Submucous cleft hard palate...	OMIM:115150
Alexander Disease	Ataxia, Aqueductal stenosis, Hydrocephalus, High palate, Gait disturbance, Failure to thrive, Age...	ORPHA:58
Kagami-Ogata Syndrome	Hypoplasia of the maxilla, Long philtrum, Retrognathia, Micrognathia	OMIM:608149
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus, Gingival overgrowth, Micrognathia	ORPHA:1834
Methylcobalamin Deficiency Type Cble	Hydrocephalus, Failure to thrive, Ventriculomegaly	ORPHA:2169
6Q Terminal Deletion Syndrome	Aplasia/Hypoplasia of the ribs, Micrognathia, Macrocephaly, Abnormal cerebral white matter morpho...	ORPHA:75857
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Natal tooth, Dental crowding, Carious teeth, Supernumerary tooth, Talon cusp, Dental malocclusion...	ORPHA:353281
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Myoclonic-Astatic Epilepsy	Microphthalmia, Microcephaly	ORPHA:1942
Joubert Syndrome 37	Microphthalmia, Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum	OMIM:619185
Neu-Laxova Syndrome	Ventriculomegaly, Abnormality of the philtrum, Spina bifida, Micrognathia, Trismus, Submucous cle...	ORPHA:2671
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus, Cleft palate, High palate, Malar flattening	ORPHA:93259
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hydrocephalus, Dental malocclusion, Cleft palat...	OMIM:101200
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Ataxia, Hydrocephalus, Gait disturbance, Failure to thrive, Ventriculomegaly	ORPHA:395
Opitz-Kaveggia Syndrome	Dental crowding, Micrognathia, Cleft upper lip, Hydrocephalus, Partial agenesis of the corpus cal...	OMIM:305450
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Micrognathia, Dental malocclusion, Localized hypoplasia of dental enamel, Conical incisor, Thin v...	ORPHA:73223
Orofaciodigital Syndrome Xiv	Microretrognathia, Occipital encephalocele, Natal tooth, Cerebellar vermis hypoplasia, Microcepha...	OMIM:615948
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Oculocerebrocutaneous Syndrome	Ventriculomegaly, Hydrocephalus, Orofacial cleft, Wide mouth, Dandy-Walker malformation	ORPHA:1647
Dominant Beta-Thalassemia	Failure to thrive in infancy, Abnormality of the dentition, Malar prominence, Hypopituitarism, Hy...	ORPHA:231226
Ciliary Dyskinesia, Primary, 43	Chronic sinusitis, Noncommunicating hydrocephalus	OMIM:618699
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Arboleda-Tham Syndrome	Microretrognathia, Mandibular prognathia, Thin upper lip vermilion, Cleft palate, Downturned corn...	OMIM:616268
3Q29 Microduplication Syndrome	Microcephaly, Biparietal narrowing, Macrocephaly, Aniridia, Microphthalmia, Iris coloboma	ORPHA:251038
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Short-Rib Thoracic Dysplasia 12	Natal tooth, Median cleft lip, Hamartoma of tongue, Hydrocephalus, Anencephaly, Lobulated tongue,...	OMIM:269860
Alobar Holoprosencephaly	Median cleft lip, Decreased response to growth hormone stimulation test, Inability to walk, Hydro...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Median cleft lip, Decreased response to growth hormone stimulation test, Inability to walk, Hydro...	ORPHA:93926
Lobar Holoprosencephaly	Median cleft lip, Decreased response to growth hormone stimulation test, Inability to walk, Hydro...	ORPHA:93924
Semilobar Holoprosencephaly	Median cleft lip, Decreased response to growth hormone stimulation test, Inability to walk, Hydro...	ORPHA:220386
Fryns Syndrome	Microretrognathia, Aganglionic megacolon, Short thumb, Hypoplasia of the optic tract, Stillbirth,...	OMIM:229850
Humero-Radial Synostosis	Meningocele	ORPHA:3265
Focal Dermal Hypoplasia	Abnormal dental enamel morphology, Spina bifida, Hypoplasia of the iris, Umbilical hernia, Short ...	ORPHA:2092
Tooth Agenesis, Selective, 4	Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ...	OMIM:150400
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Thoraco-Abdominal Enteric Duplication	Meningocele	ORPHA:1759
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor	OMIM:300291
Cowden Syndrome 5	Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, High palate, Narrow mouth	OMIM:615108
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Decreased response to growth hormone stimulation test, Micrognathia, Hypoplasia of the maxilla, L...	OMIM:213980
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Smith-Lemli-Opitz Syndrome	Microretrognathia, Death in infancy, Diffuse cerebral atrophy, Aganglionic megacolon, Micromelia,...	OMIM:270400
Momo Syndrome	Delayed eruption of teeth, Bilateral microphthalmos, Dental malocclusion, Taurodontia, Short ster...	ORPHA:2563
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Micrognathia	OMIM:614526
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Ataxia	ORPHA:1861
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, High, narrow palate, Hydrocephalus, High palate, Retrognathia	OMIM:616914
Van Maldergem Syndrome 2	Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Dental ...	OMIM:615546
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Veloph...	OMIM:209885
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypopituitarism, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate	ORPHA:90065
Fanconi Anemia	Hypoplasia of the ulna, Aganglionic megacolon, Spina bifida, Microcephaly, Micrognathia, Hydrocep...	ORPHA:84
Joubert Syndrome With Oculorenal Defect	Encephalocele, Hydrocephalus, Ataxia	ORPHA:2318
Trichothiodystrophy 3, Photosensitive	Carious teeth, Microphthalmia, Natal tooth	OMIM:616395
Neurooculorenal Syndrome	Ectopic posterior pituitary, Ventriculomegaly, Micrognathia, Aqueductal stenosis, Hydrocephalus, ...	OMIM:620305
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Absent thumb, Microcephaly, Short thumb, H...	OMIM:603467
Branchioskeletogenital Syndrome	Mandibular prognathia, Unilateral cleft palate, Abnormality of the dentition, Hypoplasia of the m...	ORPHA:1299
Lathosterolosis	Micrognathia, Meningocele, Gingival overgrowth, Downturned corners of mouth, High palate, Long ph...	ORPHA:46059
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Narrow philtrum, Retrognathia...	OMIM:601812
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Microphthalmia, Short thumb, Iris coloboma	ORPHA:2712
17Q12 Microduplication Syndrome	Microphthalmia, Cortical dysplasia	ORPHA:261272
Adams-Oliver Syndrome 1	Encephalocele, Periventricular leukomalacia, Microcephaly, Cortical dysplasia, Hypoplasia of the ...	OMIM:100300
Cowden Syndrome 6	Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, High palate, Narrow mouth	OMIM:615109
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Micrognathia, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia...	ORPHA:2754
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Thalamic hemorrhage, Cerebral calcification, Abnormal basal ganglia morphology	ORPHA:464321
Hajdu-Cheney Syndrome	Micrognathia, Absent frontal sinuses, Hydrocephalus, Dental malocclusion, High palate, Narrow mou...	OMIM:102500
Multiple Sulfatase Deficiency	Hydrocephalus, Ataxia, Increased CSF protein concentration, Ventriculomegaly	OMIM:272200
Pentalogy Of Cantrell	Encephalocele, Hydrocephalus, Non-midline cleft lip, Anencephaly, Cleft palate, Orofacial cleft	ORPHA:1335
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Short humerus, Optic disc hypoplasia, Aganglionic megacolon, Short hallux...	ORPHA:959
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Hypoplasia of teeth, Microcephaly	ORPHA:2728
Oculo-Palato-Cerebral Syndrome	Remnants of the hyaloid vascular system, Microcephaly, Small hand, Aplasia/Hypoplasia of the corp...	ORPHA:2714
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Umbilical hernia, Bilateral microphthalmos	ORPHA:369891
Phace Association	Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Cerebellar hypoplasia, Microphthalmia, Da...	OMIM:606519
Marden-Walker Syndrome	Micrognathia, Hydrocephalus, Submucous cleft hard palate, Retrognathia, Cleft palate, Narrow mout...	ORPHA:2461
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Retrognathia, Death in infancy, Microcephaly	OMIM:601675
Meckel Syndrome, Type 6	Occipital encephalocele, Cleft upper lip, Hydrocephalus, Anencephaly, Cleft palate	OMIM:612284
W Syndrome	Broad uvula, Submucous cleft hard palate, Agenesis of maxillary central incisor, Upper lip pit	ORPHA:2804
Neurocutaneous Melanocytosis	Ventriculomegaly, Meningocele, Dandy-Walker malformation	ORPHA:2481
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Mandibular prognathia, Thin upper lip vermilion, Anterior pituitary ...	OMIM:619841
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Mandibular prognathia, Large for gestational age, Gait ataxia, High ...	OMIM:617011
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Glossoptosis, Meningocele, Ventriculomegaly	ORPHA:2031
Fraser Syndrome 3	Hydrocephalus, Stillbirth, Micrognathia	OMIM:617667
Kapur-Toriello Syndrome	Short thumb, Polymicrogyria, Retinal coloboma, Microphthalmia, Pachygyria, Iris coloboma	OMIM:244300
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Abnormal dental enamel morphology, High, narrow palate, Hydrocephalus, Sub...	ORPHA:2658
Osteopetrosis, Autosomal Recessive 5	Micrognathia, Hydrocephalus, Gingival overgrowth, Stillbirth, Long philtrum, Ventriculomegaly	OMIM:259720
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Tetraamelia Syndrome 1	Microphthalmia, Hydrocephalus, Tetraamelia, Micrognathia	OMIM:273395
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:212550
Beta-Thalassemia Major	Failure to thrive in infancy, Abnormality of the dentition, Malar prominence, Hypopituitarism, Hy...	ORPHA:231214
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Inability to walk, Hydrocephalus, Gait disturban...	ORPHA:2356
Acitretin/Etretinate Embryopathy	Aplasia/Hypoplasia of the maxilla, High palate, Median cleft palate, Micrognathia	ORPHA:40366
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Mucopolysaccharidosis Type 1	Sinusitis, Hydrocephalus, Thick lower lip vermilion, Gingival overgrowth, Widely spaced teeth, Ev...	ORPHA:579
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Ataxia, Hydrocephalus, Orofacial cleft, Gait disturbance	ORPHA:1454
Hajdu-Cheney Syndrome	Micrognathia, Absent frontal sinuses, Open bite, Hydrocephalus, Abnormality of the dentition, Abn...	ORPHA:955
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Microcephaly, Aplasia/Hypoplasia of the cerebra...	OMIM:235730
Chromosome 17P13.1 Deletion Syndrome	Spina bifida, High, narrow palate, Hydrocephalus, High palate, Short philtrum, Everted lower lip ...	OMIM:613776
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Mandibular prognathia, Microphthalmia, Iris coloboma, Microcephaly	ORPHA:1236
Multicentric Osteolysis, Nodulosis, And Arthropathy	Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Gingival overgrowth, Gait dis...	OMIM:259600
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Coloboma, Hypoplastic iris stroma, Macular hyp...	ORPHA:2334
Kabuki Syndrome	Abnormal dental morphology, Lip pit, Abnormality of the dentition, Hydrocephalus, Obesity, Orofac...	ORPHA:2322
Thanatophoric Dysplasia, Type I	Neonatal death, Hydrocephalus	OMIM:187600
Faciocardiomelic Syndrome	Micrognathia, Large for gestational age, Dental malocclusion, Wide mouth, Long philtrum, Hyperpla...	OMIM:612731
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:603387
Dural Sinus Malformation	Myelopathy, Hydrocephalus, Ataxia	ORPHA:97339
Geroderma Osteodysplasticum	Mandibular prognathia, Hypoplasia of the maxilla, Malar flattening, Periodontitis	OMIM:231070
22Q11.2 Deletion Syndrome	Aganglionic megacolon, Abnormal dental enamel morphology, Spina bifida, Microcephaly, Micrognathi...	ORPHA:567
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Hypoplasia of the maxilla, Submucous cleft hard...	ORPHA:2588
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Fontaine Progeroid Syndrome	Mandibular prognathia, Death in infancy, Cerebellar vermis hypoplasia, Microcephaly, Micrognathia...	OMIM:612289
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Accessory oral frenulum, Hamartoma of tongue, Hydrocephalus, Anencephaly, Cleft palate, Occipital...	OMIM:616546
Nablus Mask-Like Facial Syndrome	Thin upper lip vermilion, Abnormality of the dentition, Hypoplasia of the maxilla, High palate, E...	OMIM:608156
Autosomal Recessive Spondylocostal Dysostosis	Meningocele, Cleft palate, Long philtrum, Umbilical hernia, Spina bifida occulta	ORPHA:2311
Primary Ciliary Dyskinesia	Hydrocephalus, Chronic sinusitis, Ventriculomegaly	ORPHA:244
Ear-Patella-Short Stature Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Submucous cleft hard palate, Retrog...	ORPHA:2554
Spondylocostal Dysostosis 4, Autosomal Recessive	Myelomeningocele, Spina bifida occulta, Hydrocephalus	OMIM:613686
Atelis Syndrome 2	Microphthalmia, Micrognathia, Remnants of the hyaloid vascular system, Microcephaly	OMIM:620185
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Microcephaly	OMIM:257910
Zttk Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Dysplastic corpus callosum, Submucous cl...	OMIM:617140
Arachnoiditis	Hydrocephalus	ORPHA:137817
Cowden Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, High palate, Narrow mouth	OMIM:158350
Medulloblastoma	Ataxia, Hydrocephalus, Dysmetria, Progressive cerebellar ataxia, Cerebellar ataxia associated wit...	ORPHA:616
Monosomy 9P	Malar flattening, Micrognathia, Microcephaly, Microphthalmia, Agenesis of corpus callosum	ORPHA:261112
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Malar flattening, Hydrocephalus, Long philtrum	OMIM:207410
Meier-Gorlin Syndrome 3	Microretrognathia, Micrognathia, Hypoplasia of the maxilla, Thick vermilion border, Narrow mouth,...	OMIM:613803
Witteveen-Kolk Syndrome	Microretrognathia, Short palm, Branchial fistula, Decreased response to growth hormone stimulatio...	OMIM:613406
7Q31 Microdeletion Syndrome	Hypoplasia of the maxilla, Wide mouth, Long philtrum	ORPHA:251061
Lhermitte-Duclos Disease	Macroglossia, Hydrocephalus, Ataxia	ORPHA:65285
Skin Creases, Congenital Symmetric Circumferential, 2	Micrognathia, Microcephaly, Carious teeth, Hypoplasia of the corpus callosum, Short palm, Microph...	OMIM:616734
Roberts-Sc Phocomelia Syndrome	Hypoplasia of the ulna, Short humerus, Microcephaly, Micrognathia, Aplasia of the ulna, Hydroceph...	OMIM:268300
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Short metacarpal, Optic atrophy, Microphthalmia, Malar flattening, Short d...	OMIM:201180
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the ma...	OMIM:305100
Waardenburg Syndrome, Type 1	Mandibular prognathia, Spina bifida, Myelomeningocele, Orofacial cleft, Smooth philtrum	OMIM:193500
Whipple Disease	Hydrocephalus, Ataxia, Cachexia	ORPHA:3452
Hallermann-Streiff Syndrome	Natal tooth, Micrognathia, Microcephaly, Supernumerary tooth, Small hand, Short foot, Cerebellar ...	ORPHA:2108
Cockayne Syndrome A	Mandibular prognathia, Ataxia, Delayed eruption of primary teeth, Carious teeth, Dental malocclus...	OMIM:216400
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Microretrognathia, Micrognathia, Narrow mouth, Hydrocephalus, Cleft palate, Long philtrum, Microd...	OMIM:245600
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Mandibular prognathia, Large for gestational age, Gait ataxia, High ...	ORPHA:457359
Mend Syndrome	Microretrognathia, Dandy-Walker malformation, Micrognathia, Hydrocephalus, High palate, Failure t...	OMIM:300960
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia, Iris coloboma, Macular coloboma	OMIM:615145
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Chand Syndrome	Ataxia, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of...	ORPHA:1401
Pseudoleprechaunism Syndrome, Patterson Type	Abnormal ethmoid bone morphology, Abnormal mandible condylar process morphology, Hyperplasia of t...	ORPHA:2976
Anterior Segment Dysgenesis 2	Coloboma, Anterior segment of eye aplasia, Aniridia, Microphthalmia, Congenital aphakia	OMIM:610256
Osteoglophonic Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Eruption failure, Hi...	OMIM:166250
Acrofacial Dysostosis 1, Nager Type	Micrognathia, Aqueductal stenosis, Trismus, Hydrocephalus, Cleft upper lip, Temporomandibular joi...	OMIM:154400
Osteogenesis Imperfecta	Delayed eruption of teeth, Abnormality of dental color, Small for gestational age, Abnormal denta...	ORPHA:666
Sandifer Syndrome	Abnormal posturing	ORPHA:71272
Distal Deletion 19P	Hypoplasia of the maxilla, Umbilical hernia, Short philtrum, Cleft palate	ORPHA:96129
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Cardiofaciocutaneous Syndrome	Failure to thrive in infancy, Hydrocephalus, Submucous cleft hard palate, Hypoplasia of the zygom...	ORPHA:1340
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Short metacarpal, Hypoplasia of the corpus callosum, Micrognathia	OMIM:614230
Fetal Akinesia Deformation Sequence 1	Small for gestational age, Micrognathia, High, narrow palate, Hydrocephalus, Cleft palate, Stillb...	OMIM:208150
Dubowitz Syndrome	Delayed eruption of teeth, Micrognathia, Microcephaly, Carious teeth, Hypoplasia of the iris, Mic...	OMIM:223370
Meier-Gorlin Syndrome 1	Small for gestational age, Micrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Th...	OMIM:224690
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Carious teeth, Hydrocephalus, Cervical myelopathy, Macroglossia, Umbil...	OMIM:253200
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascular system, Microcep...	OMIM:609049
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract	OMIM:600145
Cat Eye Syndrome	Micrognathia, Absent radius, Umbilical hernia, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:115470
Incontinentia Pigmenti	Delayed eruption of teeth, Abnormal dental enamel morphology, Absent hand, Umbilical hernia, Micr...	ORPHA:464
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a...	OMIM:129900
Microphthalmia, Syndromic 1	Anophthalmia, Aganglionic megacolon, Microcephaly, Optic disc coloboma, Agenesis of maxillary lat...	OMIM:309800
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Neonatal death, Hydrocephalus	OMIM:314390
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Ventriculomegaly, Spina bifida	ORPHA:1120
8Q21.11 Microdeletion Syndrome	Microphthalmia, Micrognathia, Aplasia/Hypoplasia of the corpus callosum	ORPHA:284160
Dubowitz Syndrome	Delayed eruption of teeth, Micrognathia, Abnormality of the dentition, Hydrocephalus, Submucous c...	ORPHA:235
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia, Malar flattening, Iris coloboma, Hypoplasia of the fron...	OMIM:229400
Achondroplasia	Hydrocephalus, Obesity	ORPHA:15
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Schizencephaly, Hydrocephalus, Porencephalic cyst, Cortical dysplasia, Leukoencephalopathy, Hypop...	OMIM:175780
Thanatophoric Dysplasia Type 1	Hydrocephalus, Ventriculomegaly	ORPHA:1860
Stickler Syndrome	Abnormal dental enamel morphology, Cachexia, Micrognathia, Hypoplasia of the maxilla, Cleft upper...	ORPHA:828
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Short thumb, Colpocephaly, Hypoplasia of the corpus callosum, Macrocephaly, Cerebral white matter...	ORPHA:477993
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Malar flattening	OMIM:122880
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus, Ataxia, Cachexia	ORPHA:220295
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia, Iris coloboma	OMIM:269400
Pallister-Hall Syndrome	Abnormal basal ganglia MRI signal intensity, Microretrognathia, Natal tooth, Adrenocorticotropic ...	ORPHA:672
Campomelic Dysplasia	Irregular dentition, Spina bifida, Micrognathia, Carious teeth, Hydrocephalus, Submucous cleft ha...	OMIM:114290
Hurler Syndrome	Hydrocephalus, Gingival overgrowth, Macroglossia, Thick vermilion border, Microdontia, Umbilical ...	OMIM:607014
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Ataxia, Abnormality of the dentition, Hydrocephalus, Macroglossia, Thi...	ORPHA:581
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Chronic sinusitis, Absent frontal sinuses	OMIM:244400
Myhre Syndrome	Mandibular prognathia, Thin upper lip vermilion, Small for gestational age, Ataxia, Hypoplasia of...	OMIM:139210
Incontinentia Pigmenti	Hypoplasia of the fovea, Delayed eruption of teeth, Microcephaly, Optic atrophy, Microphthalmia	OMIM:308300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal...	OMIM:615287
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Norrie Disease	Aplasia/Hypoplasia of the lens, Remnants of the hyaloid vascular system, Microcephaly, Optic atro...	ORPHA:649
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplasia of the ulna, Short metacarpal, Micrognathia, Microcephaly, Aplasia/hypoplasia of the h...	OMIM:609945
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Short thumb, Supernumerary tooth,...	OMIM:268400
Aprosencephaly And Cerebellar Dysgenesis	Aprosencephaly, Micrognathia	OMIM:601374
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Micrognathia, Carious teeth, Hydrocephalus, High palate, Long philtrum, Microdontia, Dentinogenes...	ORPHA:536467
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly, Cleft palate, Cleft upper lip	OMIM:313850
Van Den Ende-Gupta Syndrome	Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Cleft palate, High...	OMIM:600920
Refsum Disease	Microphthalmia, Short metacarpal	ORPHA:773
Goldberg-Shprintzen Syndrome	Hypoplasia of the maxilla, Oligodontia, Everted lower lip vermilion, Short philtrum, Thick vermil...	OMIM:609460
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Ataxia, Athetosis, Subependymal nodules, Ventriculomegaly	ORPHA:25
Thakker-Donnai Syndrome	Communicating hydrocephalus, Agenesis of corpus callosum, Downturned corners of mouth, Narrow mouth	ORPHA:1780
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	High, narrow palate, Short philtrum, High palate, Ataxia, Overweight, Obesity, Thick vermilion bo...	OMIM:619475
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	High, narrow palate, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:228308
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Narrow palate, Cleft palate, Open bite	ORPHA:794
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Branchial fistula, Micrognathia, Hydrocephalus, Macroglossia, High palate,...	ORPHA:261337
Dyskeratosis Congenita	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Taurodontia, Periodontiti...	ORPHA:1775
Osteootohepatoenteric Syndrome	Hydrocephalus, Failure to thrive, Weight loss	OMIM:619377
8Q24.3 Microdeletion Syndrome	Microretrognathia, Branchial cyst, Ectopic posterior pituitary, Short femur, Optic nerve hypoplas...	ORPHA:508488
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Neonatal death, Hydrocephalus	OMIM:616482
Oculodentodigital Dysplasia	Microcephaly, Carious teeth, Basal ganglia calcification, Abnormal cerebral white matter morpholo...	OMIM:164200
Koolen-De Vries Syndrome Due To A Point Mutation	Slender build, Decreased response to growth hormone stimulation test, Spina bifida, Small for ges...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Slender build, Decreased response to growth hormone stimulation test, Spina bifida, Small for ges...	ORPHA:363958
Multiple Sulfatase Deficiency	Hydrocephalus, Smooth philtrum	ORPHA:585
Trisomy 8P	Hydrocephalus, Cleft palate, Thin vermilion border, Retrognathia, Agenesis of corpus callosum, Bi...	ORPHA:264450
Isotretinoin-Like Syndrome	Hydrocephalus, Cleft palate, Micrognathia	ORPHA:2306
Wiedemann-Rautenstrauch Syndrome	Delayed eruption of teeth, Natal tooth, Dandy-Walker malformation, Small for gestational age, Mic...	OMIM:264090
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Neonatal Lupus Erythematosus	Hydrocephalus	ORPHA:398124
Achondroplasia	Malar flattening, Hydrocephalus	OMIM:100800
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly, Hand oligodactyly	OMIM:207770
Brachytelephalangic Chondrodysplasia Punctata	Hypoplasia of the maxilla, Hypoplasia of the anterior nasal spine	ORPHA:79345
Papillorenal Syndrome	Microphthalmia, Optic disc coloboma, Retinal coloboma	OMIM:120330
Mucopolysaccharidosis, Type Vii	Hydrocephalus, Gingival overgrowth, Macroglossia, Widely spaced teeth, Umbilical hernia	OMIM:253220
Greenberg Dysplasia	Micrognathia, Hypoplasia of the maxilla, Large placenta, Stillbirth, Neonatal death, Retrognathia	OMIM:215140
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Micrognathia, Short tibia, Fibular hypoplasia, Short ribs, Neonatal death, Microphth...	OMIM:617925
Mirage Syndrome	Hydrocephalus, Decreased body weight	OMIM:617053
Wolf-Hirschhorn Syndrome	Small for gestational age, Micrognathia, Cleft upper lip, Hydrocephalus, Cleft palate, Orofacial ...	OMIM:194190
Cockayne Syndrome Type 3	Optic disc pallor, Cerebral white matter atrophy, Carious teeth, Basal ganglia calcification, Pro...	ORPHA:90324
Renpenning Syndrome 1	Mandibular prognathia, Microcephaly, Micrognathia, Cerebral atrophy, Coloboma, Death in childhood...	OMIM:309500
3Q29 Microdeletion Syndrome	Microphthalmia, Macrocephaly, Microcephaly	ORPHA:65286
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia, Hypoplastic cervical vertebrae	ORPHA:35173
Marfan Syndrome	Dental crowding, Cachexia, Micrognathia, Open bite, Abnormal zygomatic bone morphology, High, nar...	ORPHA:558
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly	OMIM:219730
Limb Body Wall Complex	Encephalocele, Spina bifida, Cleft lip, Myelomeningocele, Hydrocephalus, Anencephaly, Cleft palat...	ORPHA:2369
Carnitine Palmitoyltransferase Ii Deficiency	Hydrocephalus, Agenesis of corpus callosum	ORPHA:157
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Death in infancy, Delayed eruption of teeth, Abnormal dental enamel morpho...	ORPHA:534
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Fanconi Anemia, Complementation Group B	Hydrocephalus, Ventriculomegaly	OMIM:300514
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Microcephaly, Hypoplasia of the radius, Mesomelic ...	ORPHA:3103
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Optic atrophy, Buphthalmos	OMIM:310600
Cockayne Syndrome	Optic disc pallor, Cerebral calcification, Cerebral dysmyelination, Delayed eruption of primary t...	ORPHA:191
Congenital Fibrinogen Deficiency	Microphthalmia	ORPHA:335
Fanconi Anemia, Complementation Group E	Absent thumb, Absent radius, Short thumb, Microcephaly, Microphthalmia	OMIM:600901
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ataxia, Hydrocephalus, Stomatitis, Failure to thrive, Glossitis, Smooth philtrum	ORPHA:79282
Ohdo Syndrome, X-Linked	Microphthalmia, Short thumb, Micrognathia	OMIM:300895
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Large for gestational age, Micrognathia, Large...	ORPHA:96334
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia, Increased circulating gonadotropin level	OMIM:110100
Axenfeld-Rieger Syndrome, Type 1	Thin upper lip vermilion, Decreased response to growth hormone stimulation test, Hypoplasia of th...	OMIM:180500
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hydrocephalus, Failure to thrive, Smooth philtrum	OMIM:277400
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Natal tooth, Facial palsy, Micrognathia, Carious teeth, Optic disc coloboma, Micr...	OMIM:620186
Ablepharon Macrostomia Syndrome	Hypoplasia of the maxilla, Wide mouth, Thin vermilion border, Hypoplasia of the zygomatic bone, M...	ORPHA:920
Fanconi Anemia, Complementation Group A	Absent thumb, Absent radius, Short thumb, Microcephaly, Microphthalmia	OMIM:227650
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Persistence of primary teeth, Carious teeth, Basal ganglia calcification, Bilateral ...	ORPHA:93325
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Weill-Marchesani Syndrome 1	Hypoplasia of the maxilla, Tooth malposition, Narrow palate	OMIM:277600
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Open mouth	ORPHA:457284
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia, Short metacarpal, Rhizomelia, Coloboma	ORPHA:85167
Degcags Syndrome	Microcephaly, Micrognathia, Short thumb, Hemihypotrophy of lower limb, Microphthalmia, Retrognath...	OMIM:619488
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Narrow mouth, High palate, Dec...	OMIM:617402
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Thin upper lip vermilion, Ataxia, Decreased response to growth hormone stimulation t...	ORPHA:3455
Rodrigues Blindness	Microphthalmia	OMIM:268320
Weill-Marchesani Syndrome 2	Hypoplasia of the maxilla, Narrow palate, High palate, Umbilical hernia, Tooth malposition	OMIM:608328
Genitopatellar Syndrome	Delayed eruption of teeth, Microcephaly, Micrognathia, Patellar aplasia, Colpocephaly, Pachygyria...	OMIM:606170
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a...	OMIM:604292
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Umbilical hernia, Hydrocephalus, High palate	OMIM:104350
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious...	OMIM:149730
Hec Syndrome	Communicating hydrocephalus	ORPHA:2119
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Micrognathia, Microcephaly, Aplasia of the distal phalanx of the 5th toe, Cleft mandible, Aplasia...	OMIM:608670
Aymé-Gripp Syndrome	Thin upper lip vermilion, Hydrocephalus, Cleft palate, Oligodontia, Narrow mouth, Ventriculomegal...	ORPHA:1272
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Robin Sequence With Cleft Mandible And Limb Anomalies	Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, Pierre-Robin sequence, C...	OMIM:268305
Phocomelia, Schinzel Type	High, narrow palate, Meningocele, Cleft palate, Micrognathia	ORPHA:2879
Bloom Syndrome	Malar flattening, Small for gestational age, Agenesis of maxillary lateral incisor	OMIM:210900
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Mandibular prognathia, Ataxia, Macroglossia, Abnormality of the sphe...	ORPHA:309282
Fanconi Anemia, Complementation Group C	Absent thumb, Absent radius, Short thumb, Microcephaly, Microphthalmia	OMIM:227645
Laurin-Sandrow Syndrome	Downturned corners of mouth, Hydrocephalus	ORPHA:2378
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Inability to walk, Macroglossia, Hydrocephalus, Thick vermilion border	ORPHA:505248
Tetrasomy 9P	Abnormal number of permanent teeth, Dental crowding, Abnormal dental enamel morphology, Median cl...	ORPHA:3310
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	11 pairs of ribs, Micrognathia, Microcephaly, Small hand, Microphthalmia	OMIM:620005
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Dental malocclusion, Hypoplasia of teeth, Coloboma, Microphthalmia	OMIM:603457
Pseudoaminopterin Syndrome	Micrognathia, Hydrocephalus, Orofacial cleft, High palate, Short philtrum, Microdontia	ORPHA:221120
Hurler Syndrome	Macroglossia, Hydrocephalus, Everted lower lip vermilion, Thick vermilion border	ORPHA:93473
Hypoplasminogenemia	Hydrocephalus, Gingival overgrowth, Gingivitis, Periodontitis, Dandy-Walker malformation	ORPHA:722
Singleton-Merten Syndrome 1	Waddling gait, Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Short dental r...	OMIM:182250
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Basal ganglia calcification, Papilledema, Macrocephaly	OMIM:127000
Floating-Harbor Syndrome	Broad-based gait, Small for gestational age, Persistence of primary teeth, Hypoplasia of the maxi...	ORPHA:2044
Bartsocas-Papas Syndrome 1	Short metacarpal, Hypoplastic scapulae, Micrognathia, Hypoplasia of the maxilla, Short thumb, Abs...	OMIM:263650
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia, Microcephaly	OMIM:278730
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Lower limb dysmetria, Micrognathia, Hydrocephalus, Abnormality of the sphenoid sinus, ...	ORPHA:363700
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Remnants of the hyaloid vascular system, Phthisis bulbi, Buphthalmos, Microphthalmia, Iris coloboma	OMIM:221900
H Syndrome	Hydrocephalus, Gingival overgrowth, Cleft upper lip	ORPHA:168569
Loeys-Dietz Syndrome 1	Micrognathia, Hydrocephalus, Cleft palate, Malar flattening, Retrognathia, Bifid uvula	OMIM:609192
Lymphedema-Distichiasis Syndrome	Microphthalmia, Micrognathia	OMIM:153400
Sirenomelia	Spina bifida, Sirenomelia	ORPHA:3169
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Dental malocclusion, Short finger, Microphthalmia, Retrognathia, Malar flattening	OMIM:601552
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Spondyloepimetaphyseal Dysplasia, Krakow Type	Hydrocephalus, High palate	OMIM:618162
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Failure to thrive in infancy, Micrognathia, Abnormality of the gingiva...	ORPHA:798
Nail-Patella Syndrome	Cleft palate, Spina bifida, Cleft upper lip	OMIM:161200
Full Nf2-Related Schwannomatosis	Myelopathy, Hydrocephalus, Unsteady gait	ORPHA:637
Sturge-Weber Syndrome	Hydrocephalus, Gingival overgrowth	ORPHA:3205
Baller-Gerold Syndrome	Micrognathia, Hydrocephalus, Cleft palate, Thin vermilion border, High palate, Narrow mouth, Long...	OMIM:218600
Peters Plus Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Micrognathia, Cleft upper lip, Hydrocephalus, ...	ORPHA:709
Teebi-Shaltout Syndrome	Microphthalmia, Microcephaly	OMIM:272950
Costello Syndrome	Micrognathia, Hydrocephalus, Thick lower lip vermilion, Macroglossia, High palate, Failure to thr...	OMIM:218040
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Exaggerated cupid's bow, Spina bifida, Partial agenesis of the corpus callosum, Thick vermilion b...	OMIM:619480
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Hypoplasia of the maxilla, Sup...	OMIM:614188
Jacobsen Syndrome	Ventriculomegaly, Spina bifida, Abnormal palate morphology, Long philtrum, Agenesis of corpus cal...	ORPHA:2308
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Elevated circulating luteinizing hormone level, High, narrow palate, Hydrocephalus, Stillbirth, E...	ORPHA:95699
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Ataxia	OMIM:616084
Neuroocular Syndrome	Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Microcephaly, Lens coloboma, Re...	OMIM:619539
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Hydrocephalus, Premature loss of primary teeth	ORPHA:667
Williams Syndrome	Death in early adulthood, Abnormal dental enamel morphology, Microcephaly, Micrognathia, Carious ...	ORPHA:904
Dextrocardia	Hydrocephalus	ORPHA:1666
Unilateral Polymicrogyria	Abnormal posturing	ORPHA:268943
Mowat-Wilson Syndrome	Mandibular prognathia, Focal cortical dysplasia, Delayed eruption of teeth, Agenesis of cerebella...	ORPHA:2152
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Broad-based gait, Cachexia, Hydrocephalus, Limb ataxia, Ventriculomegaly	ORPHA:2072
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus	ORPHA:1571
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Thin upper lip vermilion, Hydrocephalus, Short philtrum, Cleft palate	ORPHA:163979
Heterotaxy, Visceral, 1, X-Linked	Aqueductal stenosis, Myelomeningocele, Failure to thrive, Hydrocephalus	OMIM:306955
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Spina bifida	OMIM:162200
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Umbilical hernia, Ventriculomegaly	OMIM:618188
Otopalatodigital Syndrome, Type Ii	Spina bifida, Micrognathia, Hydrocephalus, Cleft palate, Stillbirth, Narrow mouth, Umbilical hern...	OMIM:304120
Coccidioidomycosis	CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Hypoglycorrhachia, Increased CSF pr...	ORPHA:228123
Phakomatosis Pigmentokeratotica	Spina bifida	ORPHA:2874
Lumbar Syndrome	Myelomeningocele, Spina bifida	ORPHA:83628
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Cleft soft palate, Hydrocephalus, Downturned corners of mouth, Abdominal obesity, Smooth philtrum	OMIM:619321
Lowe Oculocerebrorenal Syndrome	Microphthalmia, Enamel hypoplasia, Periventricular cysts, Ventriculomegaly	OMIM:309000
Thrombocytopenia-Absent Radius Syndrome	Malar flattening, Cleft palate, Spina bifida, Micrognathia	OMIM:274000
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Primrose Syndrome	Ataxia, Hypoplasia of the maxilla, Thick lower lip vermilion, Downturned corners of mouth, Trunca...	OMIM:259050
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Exaggerated median tongue furrow, Hydrocephalus, Submucous cleft lip, Dent...	OMIM:312870
Trichorhinophalangeal Syndrome, Type Ii	Mandibular prognathia, Thin upper lip vermilion, Micrognathia, Carious teeth, Deep philtrum, Prom...	OMIM:150230
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Micrognathia, Microcephaly, Microphthalmia, Malar flattening, Short distal...	OMIM:612474
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Cleft of chin, Cleft palate, Narrow palate, Malar flattening	OMIM:101400
Arima Syndrome	Wide mouth, Occipital meningocele, Dilated fourth ventricle, Ataxia	OMIM:243910
Loeys-Dietz Syndrome 2	Micrognathia, Hydrocephalus, Cleft palate, Umbilical hernia, Retrognathia, Malar flattening, Bifi...	OMIM:610168
Cloacal Exstrophy	Myelomeningocele, Spina bifida	ORPHA:93929
Split Cord Malformation	Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus	ORPHA:573278
Isolated Arrhinia	Microphthalmia, Hypoplasia of the nasal bone	ORPHA:1134
Glycogen Storage Disease Of Heart, Lethal Congenital	Macroglossia, Hydrocephalus	OMIM:261740
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hydrocephalus, Gait disturbance, Abnormal palate morphology	ORPHA:3042
Gaucher Disease	Hydrocephalus, Ataxia, Gingival bleeding, Ventriculomegaly	ORPHA:355
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Temporomandibular joint ankylosis, Gingival overgrowth, Macroglossia...	ORPHA:580
Townes-Brocks Syndrome	Aplasia/Hypoplasia of the 3rd toe, Chorioretinal coloboma, Microphthalmia, Agenesis of corpus cal...	ORPHA:857
Pagod Syndrome	Encephalocele, Meningocele, Spina bifida	ORPHA:991
Knobloch Syndrome 1	Occipital encephalocele, Ataxia, Occipital meningocele, Spina bifida occulta, Ventriculomegaly	OMIM:267750
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus	ORPHA:137667
Cryptococcosis	Hydrocephalus	ORPHA:1546
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi, Microcephaly	OMIM:259770
Coffin-Siris Syndrome 12	Micrognathia, Velopharyngeal insufficiency, Submucous cleft hard palate, Noncommunicating hydroce...	OMIM:619325
Oeis Complex	Myelomeningocele, Hydrocephalus	OMIM:258040
Fraser Syndrome 2	Microphthalmia	OMIM:617666
Lymphangioleiomyomatosis	Hydrocephalus	ORPHA:538
Neurofibromatosis Type 1	Hydrocephalus, Ataxia	ORPHA:636
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Meningocele	ORPHA:1010
Treacher Collins Syndrome 1	Malar flattening, Bilateral microphthalmos, Micrognathia	OMIM:154500
Tuberous Sclerosis Complex	Pituitary adenoma, Noncommunicating hydrocephalus, Subependymal nodules	ORPHA:805
Vater/Vacterl Association	Occipital encephalocele, Failure to thrive, Spina bifida, Patent urachus	OMIM:192350
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Waddling gait	OMIM:300106
Townes-Brocks Syndrome 1	Umbilical hernia, Hydrocephalus, Small for gestational age, Holoprosencephaly	OMIM:107480
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Occipital meningocele, High palate, Narrow palate	OMIM:276820

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 Zic5

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 Zic5.

No publications found that use IMPC mice or data for Zic5.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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