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 (1198 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
Pontocerebellar Hypoplasia, Type 12	Primary microcephaly, Cerebral atrophy, Death in infancy, Lateral ventricle dilatation, Micrognat...	OMIM:618266
Holoprosencephaly 5	Hydrocephalus, Lobar holoprosencephaly, Semilobar holoprosencephaly, Alobar holoprosencephaly, La...	OMIM:609637
Adams-Oliver Syndrome 2	Macrocephaly, Polymicrogyria, Cerebral atrophy, Hydrocephalus, Lateral ventricle dilatation, Micr...	OMIM:614219
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Ventriculomegaly, Microcephaly, Cerebellar hypoplasia, Micrognathia, Agenesis of ...	OMIM:616570
Band Heterotopia	Macrocephaly, Polymicrogyria, Hydrocephalus, Lateral ventricle dilatation, Ventriculomegaly, Agen...	OMIM:600348
X-Linked Parkinsonism-Spasticity Syndrome	Lateral ventricle dilatation, Diffuse cerebral atrophy, Dilated third ventricle	ORPHA:363654
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Type II lissencephaly, Aplasia of the inferior half of the cerebellar vermis, Hydrocephalus, Hypo...	OMIM:613154
Microphthalmia, Isolated, With Coloboma 5	Iris coloboma, Bilateral microphthalmos, Holoprosencephaly, Microphthalmia, Chorioretinal colobom...	OMIM:611638
Congenital Hydrocephalus	Colpocephaly, Macrocephaly, Abnormal cortical gyration, Iris coloboma, Hydrocephalus, Ventriculom...	ORPHA:2185
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Hypoplasia of the pons, Dandy-Walker malformation, Lateral ventricle dilatation, Optic nerve hypo...	OMIM:618736
Polymicrogyria Due To Tubb2B Mutation	Polymicrogyria, Abnormal caudate nucleus morphology, Abnormal corpus callosum morphology, Schizen...	ORPHA:300573
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly, Optic nerve hypopl...	OMIM:618890
Familial Median Cleft Of The Upper And Lower Lips	Diastema, Irregular dentition, Abnormal mandible morphology, Cleft upper lip, Median cleft lip, A...	ORPHA:401942
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Rhizomelic leg shortening, Occipital encephalocele, Open operculum, Ventriculomegaly, Cerebellar ...	ORPHA:397715
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos, Diffuse cerebral atrophy, Lateral ventricle dilatation, Corpus callosum...	ORPHA:77299
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Cerebral atrophy, Simplified gyral pattern, Lateral ventricle dilatation, Leukoencephalopathy, Co...	OMIM:619244
Unilateral Hemispheric Polymicrogyria	Cortical dysplasia, Cerebral hypoplasia, Lateral ventricle dilatation, Thick cerebral cortex	ORPHA:101071
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Simplified gyral pattern, Death in infancy, Periventricular cysts, Lateral ventricle dilatation, ...	OMIM:617668
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Cerebellar hypoplasia, Micrognathia, Optic atrophy, Dandy-Walker malformation	ORPHA:1538
Craniotelencephalic Dysplasia	Frontal encephalocele, Hydrocephalus, Septo-optic dysplasia, Microphthalmia, Lissencephaly, Micro...	ORPHA:1528
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Cerebral atrophy, Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Optic ne...	OMIM:617296
Aicardi Syndrome	Polymicrogyria, Prominence of the premaxilla, Choroid plexus cyst, Partial agenesis of the corpus...	OMIM:304050
Alg2-Cdg	Iris coloboma, Lateral ventricle dilatation, Microcephaly, Hypoplasia of the corpus callosum, Hyp...	ORPHA:79326
Congenital Muscular Dystrophy With Cerebellar Involvement	Type II lissencephaly, Polymicrogyria, Diffuse white matter abnormalities, Hydrocephalus, Olivopo...	ORPHA:370959
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Primary microcephaly, Thin corpus callosum, Partial agenesis of the corpus callosum, Dysgenesis o...	OMIM:615771
Intellectual Developmental Disorder, X-Linked 103	Polymicrogyria, Short palm, Lateral ventricle dilatation	OMIM:300982
Oculocerebrocutaneous Syndrome	Orbital encephalocele, Anophthalmia, Microphthalmia, Agenesis of corpus callosum, Hypoplasia of t...	OMIM:164180
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Intellectual Developmental Disorder, Autosomal Recessive 69	Hyperplasia of the maxilla, Ataxia, Ventriculomegaly	OMIM:618383
Lissencephaly 4	Colpocephaly, Primary microcephaly, Simplified gyral pattern, Cerebellar hypoplasia, Lissencephal...	OMIM:614019
Polyrrhinia	Abnormal third ventricle morphology, Lateral ventricle dilatation	ORPHA:141091
Pineocytoma	Increased CSF protein concentration, Episodic ataxia, Difficulty walking, Hydrocephalus	ORPHA:251912
Dihydropyrimidine Dehydrogenase Deficiency	Cerebral atrophy, Microphthalmia, Microcephaly, Optic atrophy, Agenesis of corpus callosum, Coloboma	OMIM:274270
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Macrocephaly, Type II lissencephaly, Hypoplasia of the olfactory bulb, Optic nerve hypoplasia, Ce...	ORPHA:300570
Pontocerebellar Hypoplasia, Type 1A	Neuronal loss in basal ganglia, Hypoplasia of the pons, Lateral ventricle dilatation, Microcephal...	OMIM:607596
Oligodontia	Oligodontia, Widely spaced teeth, Short dental root, Agenesis of mandibular premolar, Delayed eru...	ORPHA:99798
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebral atrophy, Partial agenesis of the corpus callosum, Hypoplasia of the pons, Simplified gyr...	OMIM:616171
Hydrolethalus	Retrognathia, Hydrocephalus, Absent septum pellucidum, Microphthalmia, Anencephaly, Micromelia, M...	ORPHA:2189
Martsolf Syndrome 2	Hypoplasia of the corpus callosum, Microcephaly, Lateral ventricle dilatation	OMIM:619420
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Type II lissencephaly, Hydrocephalus, Occipital encephalocele, Microphthalmia, Ventriculomegaly, ...	ORPHA:324416
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Primary microcephaly, Simplified gyral pattern, Lateral ventricle dilatation, Cerebral white matt...	ORPHA:284417
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Hydrocephalus, Relative macrocephaly, Ventriculomegaly, Microcephaly, Small hand, Cerebral white ...	ORPHA:500055
Cach Syndrome	T2 hypointense thalamus, Cerebral atrophy, Lateral ventricle dilatation, Dysgyria, Microcephaly, ...	ORPHA:135
Duplication Of The Pituitary Gland	Encephalocele, Retrognathia, Abnormality of the pituitary gland, Abnormal hypothalamus morphology...	ORPHA:314621
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, Cerebral atrophy, Mandibular prognathia, Lateral ventricle dilatation, Microphthalm...	ORPHA:464738
Alexander Disease Type I	Abnormal thalamic MRI signal intensity, Focal T2 hyperintense basal ganglia lesion, Hydrocephalus...	ORPHA:363717
Hemiparkinsonism-Hemiatrophy Syndrome	Hemiatrophy, Cerebral cortical hemiatrophy, Lateral ventricle dilatation	ORPHA:306669
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lens coloboma, Retrognathia, Umbilical hernia, Mandibular prognathia, Lateral ventricle dilatatio...	OMIM:618914
Leukoencephalopathy, Progressive, With Ovarian Failure	Periventricular leukomalacia, Progressive leukoencephalopathy, Lateral ventricle dilatation, Leuk...	OMIM:615889
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Death in childhood, Type II lissencephaly, Agenesis of cerebellar vermis, Hydrocephalus, Hypoplas...	OMIM:613153
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Macrocephaly, Retrognathia, Lateral ventricle dilatation, Dysplastic corpus callosum, Periventric...	ORPHA:544488
Walker-Warburg Syndrome	Macrocephaly, Abnormal cortical gyration, Polymicrogyria, Macrogyria, Iris coloboma, Hydrocephalu...	ORPHA:899
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Retrognathia, Simplified gyral pattern, Decreased thalamic volume, Hypoplasia of the brainstem, M...	OMIM:619072
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Macrocephaly, Perisylvian polymicrogyria, Lateral ventricle dilatation, Ventriculomegaly, Spina b...	OMIM:618291
Solitary Median Maxillary Central Incisor	Cyclopia, Holoprosencephaly, Decreased response to growth hormone stimulation test, Microphthalmi...	OMIM:147250
Hypotonia, Infantile, With Psychomotor Retardation	Hypoplasia of the corpus callosum, Lateral ventricle dilatation	OMIM:616816
Florid Cemento-Osseous Dysplasia	Periapical bone loss, Abnormal cementum morphology, Atrophy of alveolar ridges, Abnormality of pr...	ORPHA:83451
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Death in childhood, Thin corpus callosum, Partial agenesis of the corpus callosum, Lateral ventri...	OMIM:619517
Microphthalmia, Syndromic 12	Retrognathia, Microphthalmia, Neonatal death, Micrognathia, Anophthalmia	OMIM:615524
Severe X-Linked Intellectual Disability, Gustavson Type	Lateral ventricle dilatation, Dilated fourth ventricle, Microcephaly, Cerebellar hypoplasia, Micr...	ORPHA:3078
Hydrocephalus, Congenital, 1	Ventriculomegaly, Hydrocephalus	OMIM:236600
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Abnormality of the anterior commissure, Hydrocephalus, Hypoplasia of the pons, Fusion of the left...	OMIM:617542
Warburg Micro Syndrome 1	Cerebral atrophy, Perisylvian polymicrogyria, Microphthalmia, Enlarged sylvian cistern, Microceph...	OMIM:600118
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Type II lissencephaly, Hydrocephalus, Microphthalmia, Ventriculomegaly, Cerebellar hypoplasia	OMIM:614830
Tubulinopathy-Associated Dysgyria	Macrocephaly, Abnormality of the internal capsule, Abnormal corpus callosum morphology, Hypoplasi...	ORPHA:467166
Malan Overgrowth Syndrome	Macrocephaly, Optic disc hypoplasia, Optic disc pallor, Lateral ventricle dilatation, Ventriculom...	ORPHA:420179
Pyruvate Dehydrogenase E1-Alpha Deficiency	Polymicrogyria, Cerebral atrophy, Partial agenesis of the corpus callosum, Basal ganglia cysts, L...	ORPHA:79243
Chudley-Mccullough Syndrome	Ventriculomegaly, Hydrocephalus, Partial agenesis of the corpus callosum, Dysplastic corpus callosum	OMIM:604213
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Cerebral atrophy, Basal ganglia calcification, Abnormal upper motor neuron morphology, Lateral ve...	OMIM:221770
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Lateral ventricle dilatation, Ventriculomegaly, Abnormal cerebral white matter morphology, Abnorm...	OMIM:613443
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Lissencephaly 8	Type II lissencephaly, Polymicrogyria, Occipital encephalocele, Microphthalmia, Ventriculomegaly,...	OMIM:617255
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Iris coloboma, Hydrocephalus, 11 pairs of ribs, Holoprosencephaly, Microphthalmia, Agenesis of co...	ORPHA:77298
D-2-Hydroxyglutaric Aciduria 1	Macrocephaly, Lateral ventricle dilatation, Subependymal cysts, Micrognathia, Multifocal cerebral...	OMIM:600721
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Ventriculomegaly And Arthrogryposis	Ventriculomegaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Micrognathia	OMIM:619501
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Short corpus callosum, Lateral ventricle dilatation	OMIM:619972
Craniopharyngioma	Hypopituitarism, Increased circulating prolactin concentration, Abnormal hypothalamus morphology,...	ORPHA:54595
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Ventriculomegaly, Gait disturbance, Normal pressure hydrocephalus	OMIM:611808
Rhombencephalosynapsis	Macrocephaly, Agenesis of cerebellar vermis, Hydrocephalus, Septo-optic dysplasia, Aganglionic me...	ORPHA:59315
Craniosynostosis 6	Lateral ventricle dilatation, Spina bifida occulta, Microcephaly, Agenesis of corpus callosum, Da...	OMIM:616602
Microphthalmia, Isolated, With Coloboma 10	Chorioretinal coloboma, Anophthalmia, Iris coloboma, Microphthalmia	OMIM:616428
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Focal cortical dysplasia, Hydrocephalus, Microphthalmia, Facial palsy, Hypoplasia of the brainste...	OMIM:613155
Craniotelencephalic Dysplasia	Frontal encephalocele, Absent septum pellucidum, Microphthalmia, Optic nerve hypoplasia, Lissence...	OMIM:218670
X-Linked Intellectual Disability, Wilson Type	Mandibular prognathia, Microcephaly, Lateral ventricle dilatation	ORPHA:85290
Baraitser-Winter Syndrome 2	Retrognathia, Secondary microcephaly, Microphthalmia, Ventriculomegaly, Pachygyria, Lissencephaly...	OMIM:614583
Pallister-Hall-Like Syndrome	Macrocephaly, Hydrocephalus, Short ribs, Occipital encephalocele, Death in infancy, Micromelia, H...	OMIM:241800
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Shortening of all distal phalanges of the fingers, Thin corpus callosum, Microcephaly, Lateral ve...	OMIM:615716
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Thin corpus callosum, Lateral ventricle dilatation, Microphthalmia, Microcephaly, Hypoplasia of t...	OMIM:614105
Hydrolethalus Syndrome 2	Hydrocephalus, Ventriculomegaly, Cleft palate, Anencephaly, Micrognathia, Agenesis of corpus call...	OMIM:614120
Intellectual Developmental Disorder, Autosomal Dominant 48	Macrocephaly, Polymicrogyria, Umbilical hernia, Lateral ventricle dilatation, Hypoplasia of the b...	OMIM:617751
Polymicrogyria With Optic Nerve Hypoplasia	Colpocephaly, Polymicrogyria, Optic nerve hypoplasia, Dysplastic corpus callosum, Hypoplasia of t...	ORPHA:250972
Autosomal Recessive Spastic Paraplegia Type 11	Hypothalamic atrophy, Focal T2 hyperintense basal ganglia lesion, Abnormal substantia nigra morph...	ORPHA:2822
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Agenesis of corpus callosum, Hydrocephalus	OMIM:166990
Malan Syndrome	Retrognathia, Mandibular prognathia, Hyperplasia of the premaxilla, Everted lower lip vermilion, ...	OMIM:614753
Holoprosencephaly 9	Bilateral cleft lip and palate, Partial agenesis of the corpus callosum, Hydrocephalus, Malar fla...	OMIM:610829
Leptin Receptor Deficiency	Pituitary hypothyroidism, Decreased response to growth hormone stimulation test, Abnormal hypotha...	OMIM:614963
Filippi Syndrome	Serrated incisors, Abnormality of dental morphology, Microdontia, Thin vermilion border, Hypodont...	OMIM:272440
Glutamine Deficiency, Congenital	Lateral ventricle dilatation, Neonatal death, Micromelia, Subependymal cysts, Hypoplasia of the c...	OMIM:610015
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Abnormal periventricular white matter morphology, Microcephaly, Dilated third ventricle	OMIM:619725
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Ventriculomegaly, Hydrocephalus	OMIM:615938
Alg13-Cdg	Abnormal lateral ventricle morphology, Global brain atrophy	ORPHA:324422
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ventriculomegaly, Ataxia, Hydrocephalus	OMIM:618709
Regional Odontodysplasia	Abnormal dental pulp morphology, Mandibular pain, Carious teeth, Short dental root, Eruption fail...	ORPHA:83450
Atypical Teratoid Rhabdoid Tumor	Ataxia, Hydrocephalus	ORPHA:99966
Edinburgh Malformation Syndrome	Hydrocephalus, U-Shaped upper lip vermilion, Failure to thrive	OMIM:129850
Amelogenesis Imperfecta	Abnormal jaw morphology, Multiple unerupted teeth, Fragile teeth, Abnormality of permanent molar ...	ORPHA:88661
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Cleft Lip/Palate	Abnormality of dental eruption, Unilateral cleft palate, Abnormal number of permanent teeth, Clef...	ORPHA:199306
Fryns Microphthalmia Syndrome	Neural tube defect, Anophthalmia, Microphthalmia	OMIM:600776
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Abnormality of the dentition, Periodontitis, Gingivitis, Hydrocephalus	ORPHA:1008
Melanocytic Nevus Syndrome, Congenital	Open mouth, Deep philtrum, Everted lower lip vermilion, Long philtrum, Prominence of the premaxilla	OMIM:137550
Paganini-Miozzo Syndrome	Malar flattening, Mandibular prognathia, Lateral ventricle dilatation	OMIM:301025
Anencephaly 2	Anophthalmia, Anencephaly	OMIM:619452
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Microphthalmia, Microcephaly, Anophthalmia	OMIM:613885
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Lateral ventricle dilatation, Macrocephaly, Dilated third ventricle, Hydrocephalus	OMIM:619575
Oculoskeletodental Syndrome	Retrognathia, Enamel hypoplasia, Dysplastic corpus callosum, Short 5th finger, Focal white matter...	ORPHA:557003
Trisomy 1Q	Macrocephaly, Hydrocephalus, Ventriculomegaly, Microretrognathia, Cerebellar hypoplasia, Agenesis...	ORPHA:261344
Global Developmental Delay With Or Without Impaired Intellectual Development	Lateral ventricle dilatation	OMIM:618330
Masa Syndrome	Ventriculomegaly, Agenesis of corpus callosum, Shuffling gait, Hydrocephalus	OMIM:303350
Intellectual Developmental Disorder, Autosomal Recessive 68	Small for gestational age, Hypoplasia of the maxilla, Hydrocephalus	OMIM:618302
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Hydranencephaly, Holoprosencephaly, Micrognathia, Microcephaly, Aplasia/Hypoplasia of the cerebel...	ORPHA:2570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Macrocephaly, Type II lissencephaly, Polymicrogyria, Retrognathia, Death in childh...	OMIM:614643
Dystonia 30	Diffuse cerebral atrophy, Hypothalamic hamartoma, Globus pallidus hypointensity on susceptibility...	OMIM:619291
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Ventriculomegaly, Hydrocephalus	OMIM:615937
Bilateral Generalized Polymicrogyria	Hypoplasia of the corpus callosum, Microcephaly, Lateral ventricle dilatation, Diffuse white matt...	ORPHA:208447
Ventriculomegaly With Defects Of The Radius And Kidney	Forearm undergrowth, Absent radius, Hydrocephalus, Lateral ventricle dilatation, Ventriculomegaly...	OMIM:602200
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microcephaly, Microphthalmia	OMIM:616335
Cofs Syndrome	Death in infancy, Cerebral calcification, Microphthalmia, Microcephaly, Aplasia/Hypoplasia of the...	ORPHA:1466
Slc35A2-Cdg	Cerebral atrophy, Short tibia, Lateral ventricle dilatation, Elevated circulating thyroid-stimula...	ORPHA:356961
Combined Oxidative Phosphorylation Defect Type 39	Abnormal corpus callosum morphology, Cerebral atrophy, Optic disc pallor, Decreased nerve conduct...	ORPHA:565624
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Abnormal basal ganglia morphology, Decreased thalamic volume, Hypoplasia of the olfactory bulb	OMIM:618646
Pontocerebellar Hypoplasia, Type 13	Hypoplasia of the pons, Lateral ventricle dilatation, Microcephaly, Hypoplasia of the corpus call...	OMIM:618606
Peroxisome Biogenesis Disorder 6A (Zellweger)	Colpocephaly, Pachygyria, Neonatal death	OMIM:614870
Liang-Wang Syndrome	Macroglossia, Diastema, Ataxia, Everted lower lip vermilion, Downturned corners of mouth, Gingiva...	OMIM:618729
Methylmalonic Acidemia With Homocystinuria	Gait disturbance, Hydrocephalus, Failure to thrive	ORPHA:26
Microphthalmia With Brain And Digit Anomalies	Inferior cerebellar vermis hypoplasia, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Mic...	ORPHA:139471
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Type II lissencephaly, Progressive microcephaly, Abnormally large globe, Hydrocephalus, Microphth...	OMIM:615249
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy	Diffuse cerebral atrophy, Decreased thalamic volume, Secondary microcephaly, Hypoplasia of the br...	OMIM:613668
Gombo Syndrome	Microcephaly, Microphthalmia	OMIM:233270
Biemond Syndrome Type 2	Coloboma, Microphthalmia, Hydrocephalus	ORPHA:141333
Holoprosencephaly 7	Median cleft palate, Partial agenesis of the corpus callosum, Hydrocephalus, Median cleft lip and...	OMIM:610828
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Microphthalmia, Syndromic 3	Optic nerve aplasia, Missing ribs, Microphthalmia, Optic nerve hypoplasia, Hypothalamic hamartoma...	OMIM:206900
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Secondary microcephaly, Death in infancy, Optic disc pallor, Microphthalmia, Neonatal death, Vent...	OMIM:613730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Type II lissencephaly, Polymicrogyria, Hydrocephalus, Hypoplasia of the pons, Microphthalmia, Opt...	OMIM:615181
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Macrocephaly, Agenesis of corpus callosum, Interhypothalamic adhesion	OMIM:618929
Atkin-Flaitz Syndrome	Abnormality of the dentition, Everted lower lip vermilion, Thick vermilion border, Maxillary late...	ORPHA:1193
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Colpocephaly, Macrocephaly, Iris coloboma, Hydrocephalus, Communicating hydrocephalus, Simplified...	OMIM:615219
Peroxisome Biogenesis Disorder 12A (Zellweger)	Decreased body weight, Prominence of the premaxilla, Hydrocephalus	OMIM:614886
Otodental Syndrome	Abnormal dental pulp morphology, Agenesis of premolar, Taurodontia, Abnormal dental enamel morpho...	ORPHA:2791
Joubert Syndrome 3	Frontal polymicrogyria, Thin corpus callosum, Lateral ventricle dilatation, Enlarged fossa interp...	OMIM:608629
Coasy Protein-Associated Neurodegeneration	Abnormal caudate nucleus morphology, Abnormal globus pallidus morphology, Abnormality of thalamus...	ORPHA:397725
Dystonia 31	Abnormal posturing, Difficulty walking	OMIM:619565
Dentin Dysplasia, Type I	Oligodontia, Periapical bone loss, Taurodontia, Enamel hypoplasia, Microdontia, Short dental root...	OMIM:125400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Combined Oxidative Phosphorylation Deficiency 51	Optic atrophy, Cerebral atrophy, Focal T2 hyperintense thalamic lesion	OMIM:619057
Rubinstein-Taybi Syndrome 2	High palate, Retrognathia, Talon cusp, Narrow palate, Dental malocclusion, Carious teeth, Microgn...	OMIM:613684
Intellectual Developmental Disorder, Autosomal Dominant 56	Secondary microcephaly, Thin corpus callosum, Lateral ventricle dilatation	OMIM:617854
Dislocation Of The Hip-Dysmorphism Syndrome	Malar flattening, Narrow mouth, Abnormal palate morphology, Prominence of the premaxilla	ORPHA:2412
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Giant Axonal Neuropathy 1, Autosomal Recessive	Macrocephaly, Lateral ventricle dilatation, Facial palsy	OMIM:256850
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Polymicrogyria, Hydrocephalus, Microphthalmia, Ventriculomegaly, Megalencephaly, Progressive macr...	OMIM:602501
Orofaciodigital Syndrome Type 14	Partial agenesis of the corpus callosum, Open operculum, Dilated fourth ventricle, Microretrognat...	ORPHA:434179
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Malar flattening, Short 4th metacarpal, Micrognathia, Ventriculomegaly, Shor...	ORPHA:264200
Congenital Toxoplasmosis	Hydrocephalus, Cerebral calcification, Ventriculomegaly, Microphthalmia, Microcephaly	ORPHA:858
Fried Syndrome	High palate, Short philtrum, Gait disturbance, Hydrocephalus	ORPHA:85335
Intellectual Developmental Disorder, Autosomal Dominant 21	Cleft palate, Ventriculomegaly, Narrow mouth, Long philtrum, Thin vermilion border, Incisor macro...	OMIM:615502
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Malar prominence, Microphthalmia, Ventriculomegaly, Abnormality of peripheral nerve conduction, M...	ORPHA:48431
Bresek Syndrome	Iris coloboma, Hydrocephalus, Microphthalmia, Optic nerve hypoplasia, Aganglionic megacolon, Neon...	ORPHA:85284
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	T2 hypointense thalamus, Basal ganglia calcification, Leukoencephalopathy, Hypoplasia of the corp...	OMIM:618193
Dandy-Walker Syndrome	Dilated fourth ventricle, Truncal ataxia, Hydrocephalus	OMIM:220200
Cerebrooculonasal Syndrome	Encephalocele, Macrocephaly, Iris coloboma, Hydrocephalus, Malar flattening, Dandy-Walker malform...	OMIM:605627
Leukoencephalopathy With Dystonia And Motor Neuropathy	Decreased motor nerve conduction velocity, Focal T2 hyperintense thalamic lesion, Leukoencephalop...	OMIM:613724
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Death in childhood, Primary microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Microce...	OMIM:619847
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Gait ataxia, Thin upper lip vermilion, Truncal ataxia, Hyperplasia of the maxilla	OMIM:618587
Frontonasal Dysplasia 1	Pericallosal lipoma, Hypoplastic frontal sinuses, Anterior basal encephalocele, Microphthalmia, C...	OMIM:136760
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Microcephaly, Lateral ventricle dilatation	OMIM:619278
Lissencephaly Due To Tuba1A Mutation	Polymicrogyria, Partial agenesis of the corpus callosum, Perisylvian polymicrogyria, Hypoplastic ...	ORPHA:171680
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Abnormal lateral ventricle morphology, Hypoplasia of the corpus callosum, Cerebellar hypoplasia	ORPHA:488635
Temtamy Syndrome	Iris coloboma, Hypoplasia of teeth, Short 2nd toe, Microphthalmia, Ventriculomegaly, Thick corpus...	OMIM:218340
Skraban-Deardorff Syndrome	Widely spaced teeth, Cleft palate, Hyperplasia of the maxilla, Ventriculomegaly, Thick upper lip ...	OMIM:617616
Clark-Baraitser syndrome	Maxillary lateral incisor microdontia, Prominent median palatal raphe, Exaggerated median tongue ...	OMIM:300602
Intellectual Disability, Birk-Barel Type	Open mouth, Broad philtrum, High, narrow palate, Tented upper lip vermilion, Incisor macrodontia,...	ORPHA:166108
Vacterl With Hydrocephalus	Retrognathia, Spina bifida, Hydrocephalus, Aqueductal stenosis, Hypoplasia of the radius, Microph...	ORPHA:3412
Central Neurocytoma	Abnormal lateral ventricle morphology, Cerebral calcification, Hydrocephalus	ORPHA:73256
Pseudo-Torch Syndrome 2	Polymicrogyria, Lateral ventricle dilatation, Cerebral calcification, Ventriculomegaly, Microceph...	OMIM:617397
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Progressive microcephaly, Lateral ventricle dilatation, Dysplastic corpus callosum, Ventriculomeg...	ORPHA:488627
Hydrocephalus, Autosomal Dominant	Dandy-Walker malformation, Hydrocephalus	OMIM:123155
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Colpocephaly, Polymicrogyria, Retrognathia, Cerebral atrophy, Schizencephaly, Hydrocephalus, Micr...	OMIM:620156
Non Rare In Europe: Central Precocious Puberty	Hypothalamic hamartoma, Increased circulating gonadotropin level, Hydrocephalus	ORPHA:759
Osteopetrosis, Autosomal Recessive 7	Death in childhood, Hydrocephalus, Increased head circumference, Death in infancy, Lateral ventri...	OMIM:612301
Cerebrooculofacioskeletal Syndrome 1	Death in childhood, Diffuse cerebral atrophy, Basal ganglia calcification, Microphthalmia, Microg...	OMIM:214150
Developmental And Epileptic Encephalopathy 36	Microretrognathia, Hydrocephalus	OMIM:300884
Holoprosencephaly	Encephalocele, Macrocephaly, Spinal dysraphism, Cyclopia, Iris coloboma, Hydrocephalus, Hypoplasi...	ORPHA:2162
Kohlschutter-Tonz Syndrome-Like	Global brain atrophy, Secondary microcephaly, Death in adolescence, Amelogenesis imperfecta, Enam...	OMIM:619229
Williams-Beuren Region Duplication Syndrome	Small for gestational age, Diastema, High palate, Gait disturbance, Hydrocephalus, Decreased resp...	OMIM:609757
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Microcephaly-Microcornea Syndrome, Seemanova Type	Retrognathia, Microcephaly, Microphthalmia	ORPHA:2528
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Primary microcephaly, Abnormal caudate nucleus morphology, Retrognathia, Lateral ventricle dilata...	ORPHA:293725
Intellectual Disability And Myopathy Syndrome	Dental malocclusion, Thin upper lip vermilion, Incisor macrodontia, Widely-spaced maxillary centr...	OMIM:619719
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Optic atrophy, Abnormal cerebral white matter morphology, Cerebral atrophy, Dilated third ventricle	ORPHA:314404
Distal Deletion 10Q	Inferior cerebellar vermis hypoplasia, Facial diplegia, Short metatarsal, Lateral ventricle dilat...	ORPHA:96148
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Agenesis of corpus callosum, Delayed eruption of primary teeth, Mic...	OMIM:300952
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Abnormal caudate nucleus morphology, Secondary microcephaly, Lateral ventricle dilatation, Pachyg...	ORPHA:2148
Developmental And Epileptic Encephalopathy 66	Broad-based gait, Widely spaced teeth, Everted lower lip vermilion, Downturned corners of mouth, ...	OMIM:618067
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Miscarriage, T2 hypointense thalamus, Cerebral atrophy, Optic disc pallor, Hyperintensity of cere...	ORPHA:1947
Glutaric Acidemia I	Macrocephaly, Lateral ventricle dilatation, Hydrocephalus	OMIM:231670
Proboscis Lateralis	Macrocephaly, Abnormal facial skeleton morphology, Cyclopia, Abnormal corpus callosum morphology,...	ORPHA:141099
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia, Coloboma	OMIM:251505
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus, Rhizomelia, Death in infancy, Microphthalmia, Short palm, Cerebellar hypoplasia, M...	ORPHA:163966
Anophthalmia Plus Syndrome	Anophthalmia, Iris coloboma, Spina bifida	ORPHA:1104
Congenital Disorder Of Glycosylation, Type Iig	Progressive microcephaly, Cerebral atrophy, Rhizomelia, Lateral ventricle dilatation, Microcephal...	OMIM:611209
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Parietal cortical atrophy, Thin corpus callosum, Lateral ventricle dilatation, Reduced cerebral w...	OMIM:620075
Diencephalic Syndrome	Decreased body weight, Cachexia, Everted lower lip vermilion, Hydrocephalus	ORPHA:1672
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Hemifacial Hyperplasia	Dental malocclusion, Hypoplasia of the maxilla	OMIM:133900
3P25.3 Microdeletion Syndrome	Congenital pseudoarthrosis of the clavicle, Mandibular prognathia, Microphthalmia, Acromesomelia,...	ORPHA:435638
Chromosome 6Q24-Q25 Deletion Syndrome	Hydrocephalus, Lateral ventricle dilatation, Small hand, Probst bundles, Agenesis of corpus callosum	OMIM:612863
Cog5-Cdg	Retrognathia, Diffuse cerebral atrophy, Lateral ventricle dilatation, Microcephaly, Cerebral whit...	ORPHA:263487
Mmep Syndrome	Mandibular prognathia, Microcephaly, Microphthalmia	ORPHA:3434
Mosaic Trisomy 1	Macrocephaly, Polymicrogyria, Lateral ventricle dilatation, Microphthalmia, Microretrognathia, Ce...	ORPHA:1692
Joubert Syndrome 14	Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Malar flattening, Micro...	OMIM:614424
Congenital Disorder Of Glycosylation, Type Iid	Dandy-Walker malformation, Hydrocephalus	OMIM:607091
Cohen Syndrome	Small for gestational age, Open mouth, Decreased response to growth hormone stimulation test, Hig...	OMIM:216550
Lowry-Maclean Syndrome	Retrognathia, Hydrocephalus, Talon cusp, Cleft palate, High, narrow palate, Downturned corners of...	ORPHA:2409
Gómez-López-Hernández Syndrome	Thin vermilion border, Ataxia, Hydrocephalus	ORPHA:1532
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Basal ganglia calcification, Thalamic calcification	OMIM:618824
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia, Coloboma	OMIM:613703
Microphthalmia, Syndromic 5	Microphthalmia, Optic nerve hypoplasia, Ectopic posterior pituitary, Anophthalmia, Coloboma	OMIM:610125
Fanconi Anemia, Complementation Group I	Colpocephaly, Short 1st metacarpal, Short thumb, Absent septum pellucidum, Decreased response to ...	OMIM:609053
Amelocerebrohypohidrotic Syndrome	Hydrocephalus, Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental ...	ORPHA:1946
Huntington Disease-Like 1	Gait disturbance, Ventriculomegaly, Gait ataxia, Abnormal posturing, Weight loss, Dysmetria	ORPHA:157941
Pierpont Syndrome	Short finger, Abnormal cortical gyration, Primary microcephaly, Malar flattening, Microphthalmia,...	ORPHA:487825
Basal Ganglia Calcification, Idiopathic, 5	Cerebral calcification, Basal ganglia calcification, Thalamic calcification	OMIM:615483
Linear Skin Defects With Multiple Congenital Anomalies 2	Optic disc pallor, Microphthalmia, Microcephaly, Hypoplasia of the corpus callosum, Agenesis of c...	OMIM:300887
Trisomy 13	Iris coloboma, Malar flattening, Microphthalmia, Aplasia/Hypoplasia of the iris, Optic atrophy, A...	ORPHA:3378
Tetraamelia-Multiple Malformations Syndrome	Iris coloboma, Hydrocephalus, Missing ribs, Septo-optic dysplasia, Tetraamelia, Microphthalmia, M...	ORPHA:3301
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus	Open bite, Hyperplasia of the maxilla, Dental crowding	OMIM:613671
Epilepsy, Pyridoxine-Dependent	Hydrocephalus	OMIM:266100
Joubert Syndrome 15	Exencephaly, Ataxia	OMIM:614464
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Broad philtrum, Ventriculomegaly, Long philtrum, Micrognathia, Agenesis of corpus ...	OMIM:618577
Pontocerebellar Hypoplasia, Type 15	Agenesis of corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus	OMIM:619302
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Hypoplasia of the pons, Hypoplasia of the corpus callosum, Anophthalmia, Occipital cortical atrophy	ORPHA:411986
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Type II lissencephaly, Polymicrogyria, Hydrocephalus, Dandy-Walker malformation, Occipital enceph...	OMIM:236670
Temtamy Preaxial Brachydactyly Syndrome	Oligodontia, Abnormality of the dentition, Tooth malposition, Widely-spaced maxillary central inc...	ORPHA:363417
Meckel Syndrome	Encephalocele, Hydrocephalus, Anophthalmia, Lobar holoprosencephaly, Microphthalmia, Anencephaly,...	ORPHA:564
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydranencephaly, Hydrocephalus, Micrognathia, Ventriculomegaly, Cleft palate, Agenesis of corpus ...	OMIM:225790
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Retinal coloboma, Microphthalmia, Hydrocephalus	OMIM:601794
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Polymicrogyria, Microphthalmia, Optic nerve hypoplasia, Dysplastic corpus callosum, Microcephaly,...	OMIM:614833
Stromme Syndrome	Iris coloboma, Hydrocephalus, Microphthalmia, Optic nerve hypoplasia, Stillbirth, Microcephaly, C...	OMIM:243605
Microphthalmia, Syndromic 11	Agenesis of corpus callosum, Microphthalmia, Agenesis of pineal gland	OMIM:614402
Classic Pantothenate Kinase-Associated Neurodegeneration	Gait disturbance, Inability to walk, Tip-toe gait, Abnormality of the tongue, Abnormal posturing,...	ORPHA:216866
X-Linked Intellectual Disability, Sutherland-Haan Type	Small for gestational age, Mandibular prognathia, Decreased body weight, Hypoplasia of the maxilla	ORPHA:93950
1Q21.1 Microduplication Syndrome	Hydrocephalus, Failure to thrive	ORPHA:250994
Obsolete: Isolated Optic Nerve Hypoplasia/Aplasia	Optic disc hypoplasia, Optic nerve hypoplasia, Ventriculomegaly, Unilateral microphthalmos, Chori...	ORPHA:137902
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Open mouth, Hydrocephalus, Umbilical hernia, Abnormal oral cavity morphology, Micrognathia, Short...	ORPHA:1516
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Microphthalmia	ORPHA:1574
Congenital Disorder Of Deglycosylation 2	Macrocephaly, Polymicrogyria, Thin corpus callosum, Partial agenesis of the corpus callosum, Reti...	OMIM:619775
Meckel Syndrome, Type 4	Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Microphthalmia, Anencep...	OMIM:611134
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly, Hypoplasia of the corpus callosum, Cerebellar hypoplasia	ORPHA:401815
Marshall-Smith Syndrome	High palate, Eclabion, Decreased body weight, Retrognathia, Irregular dentition, Hydrocephalus, U...	OMIM:602535
Baraitser-Winter Syndrome 1	Retrognathia, Iris coloboma, Microphthalmia, Ventriculomegaly, Pachygyria, Microcephaly, Choriore...	OMIM:243310
Subependymal Nodular Heterotopia	Partial agenesis of the corpus callosum, Myelomeningocele, Meningocele, Abnormal ethmoid bone mor...	ORPHA:101030
Intellectual Developmental Disorder, Autosomal Dominant 70	Retrognathia, Hydrocephalus, Malar flattening, Mandibular prognathia, Failure to thrive, Microgna...	OMIM:620157
Curry-Jones Syndrome	Iris coloboma, Microphthalmia, Ventriculomegaly, Optic disc coloboma, Agenesis of corpus callosum	ORPHA:1553
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Basal ganglia calcification, Thalamic calcification	OMIM:618317
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Hydrocephalus	OMIM:619470
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Malar flattening, Ventriculomegaly, Agenesis of corpus callosum, Hypoplasia of the...	OMIM:109120
Microcephaly 20, Primary, Autosomal Recessive	Microlissencephaly, Simplified gyral pattern, Microphthalmia, Optic nerve hypoplasia, Small cereb...	OMIM:617914
Microcephaly, Amish Type	Hypoplasia of the fovea, Primary microcephaly, Partial agenesis of the corpus callosum, Cerebella...	OMIM:607196
Dworschak-Punetha Neurodevelopmental Syndrome	Colpocephaly, Optic disc hypoplasia, Dysplastic corpus callosum, Microcephaly, Agenesis of corpus...	OMIM:619955
Temtamy Syndrome	Macrocephaly, Iris coloboma, Microphthalmia, Short toe, Chorioretinal coloboma, Aplasia/Hypoplasi...	ORPHA:1777
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Macrocephaly, Hydrocephalus, Hypoplasia of the calcaneus, Rhizomelia, Microphthalmia, Distal shor...	OMIM:300863
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hydrocephalus, Umbilical hernia, Holoprosencephaly, Cleft palate, Narrow mouth, Mi...	ORPHA:2166
Oculodentodigital Dysplasia, Autosomal Recessive	Hypoplasia of teeth, Failure to thrive, Dental crowding, Narrow mouth, Hypoplasia of the primary ...	OMIM:257850
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Micrognathia, Microphthalmia, Abnormality of thalamus morphology	ORPHA:404440
Bainbridge-Ropers Syndrome	Inferior cerebellar vermis hypoplasia, Retrognathia, Malar flattening, Death in infancy, Lateral ...	OMIM:615485
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Colpocephaly, Thin corpus callosum, Hydrocephalus, Ventriculomegaly, Microcephaly, Micrognathia, ...	OMIM:619833
Acalvaria	Cleft palate, Spina bifida, Holoprosencephaly, Hydrocephalus	ORPHA:945
Microphthalmia, Isolated 8	Microphthalmia, Optic nerve hypoplasia, True anophthalmia, Anophthalmia, Retinal coloboma	OMIM:615113
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures	Widely-spaced incisors, Smooth philtrum, Subependymal cysts, Thin upper lip vermilion, Hypoplasia...	OMIM:618737
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydranencephaly, Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Dandy-Walker malformation	OMIM:617967
Amoebiasis Due To Free-Living Amoebae	Abnormal hypothalamus morphology, Abnormal basal ganglia morphology, Encephalomalacia, Cerebral e...	ORPHA:68
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebral atrophy, Lateral ventricle dilatation, Ventriculomegaly, Cerebral white matter hypoplasi...	ORPHA:572798
Microphthalmia With Limb Anomalies	High palate, Hydrocephalus, Cleft palate, Failure to thrive, Macrodontia, Long philtrum, Thin ver...	ORPHA:1106
Weaver Syndrome	Macrocephaly, Retrognathia, Short fourth metatarsal, Short ribs, Umbilical hernia, Absent septum ...	OMIM:277590
Papillary Tumor Of The Pineal Region	Increased CSF protein concentration, Episodic ataxia, Difficulty walking, Hydrocephalus	ORPHA:251915
Dental Anomalies And Short Stature	Oligodontia, Widely spaced teeth, Amelogenesis imperfecta, Mandibular prognathia, Microdontia, Hy...	OMIM:601216
Aicardi-Goutieres Syndrome 9	Diffuse leukoencephalopathy, Cerebral atrophy, Basal ganglia calcification, Lateral ventricle dil...	OMIM:619487
Amish Lethal Microcephaly	Spina bifida, Death in infancy, Ventriculomegaly, Microcephaly, Micrognathia, Lissencephaly, Opti...	ORPHA:99742
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Rhizomelia, Agenesis of corpus callosum, Microphthalmia, Micrognathia	ORPHA:93267
Otodental Dysplasia	Agenesis of premolar, Tooth ankylosis, Taurodontia, Enamel hypoplasia, Long philtrum, Delayed eru...	OMIM:166750
Hartsfield Syndrome	Encephalocele, Lobar holoprosencephaly, Microphthalmia, Aplasia/Hypoplasia of the corpus callosum...	ORPHA:2117
Corpus Callosum, Partial Agenesis Of, X-Linked	Ventriculomegaly, High palate, Partial agenesis of the corpus callosum, Hydrocephalus	OMIM:304100
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Amelogenesis imperfecta, Taurodontia, Enamel hypoplasia, Generalized microdontia	OMIM:104530
Microcephaly-Micromelia Syndrome	Forearm undergrowth, Absent radius, Missing ribs, Simplified gyral pattern, Aqueductal stenosis, ...	OMIM:251230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Type II lissencephaly, Hydrocephalus, Death in infancy, Microphthalmia, Buphthalmo...	OMIM:613150
Neurocardiofaciodigital Syndrome	Retrognathia, Optic disc pallor, Lateral ventricle dilatation, Microcephaly, Hypoplasia of the co...	OMIM:619869
Temple Syndrome	Small for gestational age, High palate, Overweight, Bifid uvula, Hydrocephalus, Truncal obesity, ...	OMIM:616222
Leigh Syndrome With Cardiomyopathy	Neuronal loss in basal ganglia, Abnormal caudate nucleus morphology, Global brain atrophy, Diffus...	ORPHA:70474
Omphalocele-Cleft Palate Syndrome, Lethal	Cleft palate, Bifid uvula, Hydrocephalus	OMIM:258320
Alexander Disease	Increased CSF protein concentration, Dysmetria, Ataxia, Hydrocephalus	OMIM:203450
Halperin-Birk Syndrome	Death in childhood, Colpocephaly, Umbilical hernia, Semilobar holoprosencephaly, Ventriculomegaly...	OMIM:618651
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Cerebral atrophy, Simplified gyral pattern, Optic disc pallor, Microphthalmia, Pachygyria, Microc...	OMIM:251270
Nanophthalmos 4	Optic disc drusen, Microphthalmia	OMIM:615972
Tricho-Dento-Osseous Syndrome	Widely spaced teeth, Taurodontia, Enamel hypomineralization, Microdontia, Dental enamel pits, Per...	ORPHA:3352
Frontal Encephalocele	Encephalocele, Spina bifida, Hydrocephalus	ORPHA:1931
Dandy-Walker Malformation With Postaxial Polydactyly	Hydrocephalus, Dilated fourth ventricle, Microretrognathia, Dandy-Walker malformation, Truncal at...	OMIM:220220
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lateral ventricle dilatation	OMIM:619995
Holoprosencephaly 2	Cyclopia, Aplasia of the premaxilla, Iris coloboma, Anterior pituitary agenesis, Malar flattening...	OMIM:157170
Chiari Malformation Type Ii	Cervical myelopathy, Ataxia, Myelomeningocele, Spina bifida, Hydrocephalus, Agenesis of corpus ca...	OMIM:207950
Prader-Willi Syndrome Due To Translocation	Retrognathia, Decreased response to growth hormone stimulation test, Lateral ventricle dilatation...	ORPHA:177907
Split Lower Lip	Abnormality of the dentition, Abnormal lower lip morphology, Narrow maxilla, Lower lip pit	OMIM:183400
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lewy bodies, Neurofibrillary tangles, Lateral ventricle dilatation, Cerebral cortical atrophy	OMIM:607485
Maxillonasal Dysplasia	Tooth agenesis, Mandibular prognathia, Microdontia, Cleft palate, Open bite, Hypoplasia of the ma...	ORPHA:1248
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly, Polymicrogyria, Microcephaly, Cerebellar hypoplasia	OMIM:618731
Neural Tube Defects, Susceptibility To	Myelomeningocele, Anencephaly, Spina bifida occulta, Hydrocephalus	OMIM:182940
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Decreased body weight, Hypoplasia of the maxilla, Short philtrum	ORPHA:93945
X-Linked Intellectual Disability Due To Gria3 Mutations	Open mouth, Short upper lip, Slender build, Malar flattening, Mandibular prognathia, Narrow palat...	ORPHA:364028
Keppen-Lubinsky Syndrome	Lateral ventricle dilatation, Microcephaly, Abnormally large globe, Micrognathia	OMIM:614098
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Crowded maxillary incisors, Obesity	ORPHA:397973
Edinburgh Malformation Syndrome	Hydrocephalus, Failure to thrive, Narrow mouth, Downturned corners of mouth, Thin vermilion borde...	ORPHA:1895
Microphthalmia, Syndromic 13	Iris coloboma, Chorioretinal coloboma, Microcephaly, Microphthalmia	OMIM:300915
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormality of the diencephalon, Cyclopia, Holoprosencephaly, Microcephaly	ORPHA:2165
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Macrocephaly, Polymicrogyria, Hydrocephalus, Microphthalmia, Buphthalmos, Cerebral calcification,...	OMIM:616538
Frontorhiny	Encephalocele, Hypopituitarism, Pericallosal lipoma, Iris coloboma, Hypoplastic frontal sinuses, ...	ORPHA:391474
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Cockayne Syndrome Type 2	Mandibular prognathia, Enamel hypoplasia, Delayed eruption of primary teeth, Hypoplasia of the pr...	ORPHA:90322
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Macrocephaly, Abnormal corpus callosum morphology, Lateral ventricle dilatation, Abnormal cerebra...	ORPHA:457279
Adams-Oliver Syndrome 4	Umbilical hernia, Microphthalmia, Aplasia of the middle phalanx of the 4th toe, Short toe, Absent...	OMIM:615297
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Spinal dysraphism, Hydrocephalus, Meningocele, Mandibular prognathia, Holoprosence...	ORPHA:1908
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Small pituitary gland, Lateral ventricle dilatation, Ventriculomegaly, Hypoplasia ...	OMIM:619479
20P12.3 Microdeletion Syndrome	Malar flattening, Ventriculomegaly, Narrow mouth, Long philtrum, Hypoplasia of the maxilla	ORPHA:261295
Tooth Agenesis, Selective, X-Linked, 1	Oligodontia, Tooth agenesis, Anodontia, Selective tooth agenesis, Aplasia of the maxilla, Agenesi...	OMIM:313500
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	High palate, Inability to walk, Increased CSF protein concentration, Ventriculomegaly, Agenesis o...	OMIM:218000
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Macrocephaly, Secondary microcephaly, Malar flattening, Absent septum pellucidum, Increased head ...	OMIM:300868
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Malar flattening, Abnormal palate morphology, Hypoplasia of the maxilla, Hydrocephalus	ORPHA:93262
Split-Hand/Foot Malformation 3	High palate, Cleft palate, Narrow mouth, Microretrognathia, Hypoplasia of the maxilla	OMIM:246560
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormal thalamic MRI signal intensity, Secondary microcephaly, Decreased nerve conduction veloci...	ORPHA:485421
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Premature loss of teeth, Short philtrum, Thin vermilion border, Hypoplasia of the maxilla	OMIM:156510
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	High palate, Hydrocephalus, Malar flattening, Mandibular prognathia, Abnormal dental enamel morph...	ORPHA:2180
Juvenile Neuronal Ceroid Lipofuscinosis	Focal T2 hyperintense basal ganglia lesion, Cerebral atrophy, Optic disc pallor, Focal T2 hyperin...	ORPHA:79264
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Secondary microcephaly, Optic disc hypoplasia, Hypoplasia of the brainstem, Cerebellar hypoplasia...	OMIM:619306
Charge Syndrome	Abnormal cranial nerve morphology, Iris coloboma, Aqueductal stenosis, Dandy-Walker malformation,...	ORPHA:138
Hydranencephaly	Primary microcephaly, Thalamic edema, Atrophic pituitary gland, Optic nerve hypoplasia, Ventricul...	ORPHA:2177
Congenital Varicella Syndrome	Micromelia, Cerebral cortical atrophy, Microcephaly, Microphthalmia	ORPHA:291
Rere-Related Neurodevelopmental Syndrome	Iris coloboma, Microphthalmia, Ventriculomegaly, Chorioretinal coloboma, Micrognathia, Optic atro...	ORPHA:494344
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Open mouth, Inability to walk, Macrodontia of permanent maxillary central incisor, Thick vermilio...	OMIM:620114
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Inability to walk, Ataxia, Hydrocephalus	OMIM:618174
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Type II lissencephaly, Polymicrogyria, Hypoplasia of the pyramidal tract, Hydrocep...	OMIM:253800
Trichothiodystrophy 4, Nonphotosensitive	Retrognathia, Partial agenesis of the corpus callosum, Hypoplasia of teeth, Microphthalmia, Micro...	OMIM:234050
Focal Dermal Hypoplasia	Short metatarsal, Microcephaly, Foot oligodactyly, Iris coloboma, Hydrocephalus, Microphthalmia, ...	OMIM:305600
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus, Umbilical hernia, Mandibular prognathia, Microdontia, Everted lower lip vermilion,...	OMIM:601499
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Abnormal palate morphology, Hydrocephalus, Deep philtrum, Thin vermilion border, Carious teeth, T...	ORPHA:2701
Warburg Micro Syndrome 3	Polymicrogyria, Secondary microcephaly, Microphthalmia, Ventriculomegaly, Microcephaly, Micrognat...	OMIM:614222
Temtamy Preaxial Brachydactyly Syndrome	Diastema, Deep philtrum, Talon cusp, Microdontia, Cleft palate	OMIM:605282
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Death in childhood, Hypoplasia of the frontal lobes, Short thumb, Micromelia, Microcephaly, Cereb...	OMIM:210710
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Enamel hypoplasia, Carious teeth, Conical incisor	OMIM:614564
X-Linked Lissencephaly With Abnormal Genitalia	Death in infancy, Aganglionic megacolon, Ventriculomegaly, Pachygyria, Microcephaly, Micrognathia...	ORPHA:452
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Retrognathia, Hydrocephalus, Ventriculomegaly, Micrognathia, Dandy-Walker malformation	ORPHA:163961
Microphthalmia, Isolated, With Coloboma 7	Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia	OMIM:614497
Microphthalmia, Isolated 4	Microphthalmia, Coloboma	OMIM:613094
Intellectual Developmental Disorder, Autosomal Dominant 36	Open mouth, Inability to walk, Hydrocephalus, Ventriculomegaly, Tented upper lip vermilion, Gait ...	OMIM:616362
Joubert Syndrome 21	Encephalocele, Chronic sinusitis, Short ribs, Occipital encephalocele, Optic atrophy, Hypoplasia ...	OMIM:615636
Developmental And Epileptic Encephalopathy 1	Global brain atrophy, Microcephaly, Microphthalmia, Ventriculomegaly	OMIM:308350
Monosomy 18P	Holoprosencephaly, Microphthalmia, Carious teeth, Microcephaly, Micrognathia	ORPHA:1598
Intellectual Developmental Disorder, X-Linked, Syndromic 14	High palate, Mandibular prognathia, Slender build, Hypoplasia of the maxilla	OMIM:300676
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla, Shuffling gait	OMIM:300266
Temple Syndrome	Small for gestational age, Bifid uvula, Hydrocephalus, Decreased response to growth hormone stimu...	ORPHA:254516
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hydrocephalus, Malar flattening, Umbilical hernia, Long philtrum, Thin vermilion border, Microgna...	ORPHA:171839
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the ribs, Bilateral microphthalmos, Iris coloboma, Spina bifida, Hydrocepha...	ORPHA:2839
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Abnormal posturing, Micrognathia, Failure to thrive	OMIM:614857
Gabriele-De Vries Syndrome	Malar flattening, Micrognathia, Lateral ventricle dilatation, Cortical dysplasia	OMIM:617557
Pierpont Syndrome	Short finger, Malar flattening, Microphthalmia, Short toe, Short palm, Microcephaly, Short foot	OMIM:602342
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Microphthalmia, Ventriculomegaly, Short pa...	OMIM:241410
Pseudotrisomy 13 Syndrome	Encephalocele, Polymicrogyria, Cyclopia, Hydrocephalus, Holoprosencephaly, Microphthalmia, Microc...	OMIM:264480
2Q24 Microdeletion Syndrome	Microphthalmia, Coloboma	ORPHA:1617
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Autosomal Recessive Distal Osteolysis Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla	ORPHA:2776
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	High palate, Ataxia, Abnormality of primary teeth, Tented upper lip vermilion, Incisor macrodonti...	ORPHA:438216
Progeria-Short Stature-Pigmented Nevi Syndrome	Short distal phalanx of finger, Dental malocclusion, Microcephaly, Micrognathia, Abnormality of t...	ORPHA:2959
Intellectual Developmental Disorder, Autosomal Dominant 65	Ataxia, Micrognathia, Tented upper lip vermilion, Downturned corners of mouth, Long philtrum, Thi...	OMIM:619320
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Mandibular condyle hypoplasia, Micrognathia, Hypoplasia of the premaxilla	ORPHA:2975
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Small for gestational age, Slender build, Hypoplasia of the maxilla, Failure to thrive	OMIM:608154
Microphthalmia With Limb Anomalies	Foot oligodactyly, Retrognathia, Microphthalmia, Fibular hypoplasia, Anophthalmia, Hand oligodactyly	OMIM:206920
Holoprosencephaly 13, X-Linked	Colpocephaly, Cyclopia, Septo-optic dysplasia, Semilobar holoprosencephaly, Optic nerve hypoplasi...	OMIM:301043
Nance-Horan Syndrome	Screwdriver-shaped incisors, Mulberry molar, Diastema, Supernumerary maxillary incisor	OMIM:302350
Developmental And Epileptic Encephalopathy 31B	Colpocephaly, Thin corpus callosum, Secondary microcephaly, Ventriculomegaly, Reduced cerebral wh...	OMIM:620352
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Mandibular prognathia, Basal ganglia calcification, Enamel h...	ORPHA:90321
Fanconi Anemia, Complementation Group R	Absent thumb, Microcephaly, Microphthalmia, Hydrocephalus	OMIM:617244
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Notched primary central incisor	OMIM:620062
Xeroderma Pigmentosum, Complementation Group G	Microcephaly, Microphthalmia	OMIM:278780
Developmental Delay With Variable Neurologic And Brain Abnormalities	Thin corpus callosum, Microcephaly, Microphthalmia, Micrognathia	OMIM:619694
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Retrognathia, Bifid uvula, Hydrocephalus, Umbilical hernia, Failure to thrive, Cleft palate, Prot...	OMIM:612938
Nanophthalmos	Microphthalmia	ORPHA:35612
Combined Oxidative Phosphorylation Defect Type 7	Abnormal thalamic MRI signal intensity, Facial diplegia, Abnormal cerebral white matter morpholog...	ORPHA:254930
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Chorioretinal coloboma, Iris coloboma, Microphthalmia	ORPHA:1473
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Retrognathia, Gait disturbance, Hydrocephalus, Microdontia, Ventriculomegaly, Cleft palate, Abnor...	ORPHA:1812
1Q44 Microdeletion Syndrome	Biparietal narrowing, Optic disc hypoplasia, Hydrocephalus, Ventriculomegaly, Microcephaly, Micro...	ORPHA:238769
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	High palate, Inability to walk, Ataxia, Difficulty walking, Failure to thrive, Long philtrum, Smo...	ORPHA:481152
Microphthalmia With Linear Skin Defects Syndrome	Retrognathia, Hydrocephalus, Absent septum pellucidum, Abnormal dental enamel morphology, Microph...	ORPHA:2556
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Umbilical hernia, Gait disturbance, High, narrow palate, Hydrocephalus	ORPHA:2181
Craniofacial Dyssynostosis With Short Stature	Ventriculomegaly, Malar flattening, Agenesis of corpus callosum, Hydrocephalus	OMIM:218350
Pelvis-Shoulder Dysplasia	Iris coloboma, Hypoplastic scapulae, Short clavicles, Microphthalmia, Spina bifida occulta, Optic...	OMIM:169550
Schisis Association	Encephalocele, Small for gestational age, Unilateral cleft lip, Spina bifida, Anencephaly, Cleft ...	ORPHA:63862
Panhypophysitis	Abnormal thalamic MRI signal intensity, Increased circulating prolactin concentration, Gonadotrop...	ORPHA:95513
Hydrocephalus-Obesity-Hypogonadism Syndrome	High, narrow palate, Hydrocephalus, Obesity	ORPHA:2183
Hereditary Cryohydrocytosis With Reduced Stomatin	Macrocephaly, Communicating hydrocephalus, Intracerebral periventricular calcifications, Decrease...	ORPHA:168577
Multicentric Carpotarsal Osteolysis Syndrome	Inability to walk, Hypoplasia of the maxilla, Micrognathia	OMIM:166300
Microgastria-Limb Reduction Defect Syndrome	Abnormal cortical gyration, Absent hand, Short thumb, Phocomelia, Absent septum pellucidum, Micro...	ORPHA:2538
New-Onset Refractory Status Epilepticus	Abnormal thalamic MRI signal intensity, Focal T2 hyperintense basal ganglia lesion, Global brain ...	ORPHA:363558
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Oligodontia, Retrognathia, Conical incisor, Malar flattening, Umbilical hernia, Narrow mouth, Nar...	OMIM:235510
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Wide mouth, Obesity	OMIM:616521
Microphthalmia, Isolated 5	Optic disc drusen, Optic disc pallor, Microphthalmia	OMIM:611040
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
Curry-Jones Syndrome	Hemimegalencephaly, Polymicrogyria, Iris coloboma, Microphthalmia, Lipomyelomeningocele, Occipita...	OMIM:601707
Greig Cephalopolysyndactyly Syndrome	Umbilical hernia, Agenesis of corpus callosum, Hydrocephalus	ORPHA:380
Aicardi Syndrome	Partial agenesis of the corpus callosum, Cleft palate, Ventriculomegaly, Short philtrum, Cleft up...	ORPHA:50
Joubert Syndrome 2	Encephalocele, Macrocephaly, Agenesis of cerebellar vermis, Abnormal corpus callosum morphology, ...	OMIM:608091
Muscle-Eye-Brain Disease	Meningocele, Gait disturbance, Holoprosencephaly, Hydrocephalus	ORPHA:588
Mohr Syndrome	High palate, Hydrocephalus, Malar flattening, Accessory oral frenulum, Cleft palate, Median cleft...	OMIM:252100
Uruguay Faciocardiomusculoskeletal Syndrome	Retrognathia, Difficulty walking, Everted lower lip vermilion, Hyperplasia of the maxilla, Waddli...	OMIM:300280
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Dandy-Walker malformation, Microphthalmia, Porencephalic cyst, Hypoplasia of the i...	OMIM:613001
Sandestig-Stefanova Syndrome	Primary microcephaly, Retrognathia, Microphthalmia, Ventriculomegaly, Hypoplasia of the corpus ca...	OMIM:618804
Noonan Syndrome 14	Lateral ventricle dilatation	OMIM:619745
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, Cerebral atrophy, Microphthalmia, Ventriculomegaly, Microcephaly, Hypoplasia of the...	OMIM:616449
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Iris coloboma, Microphthalmia, Coloboma	OMIM:610023
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Short umbilical cord, Lateral ventricle dilatation, Short femur, Microcephaly, Hyp...	OMIM:618367
Aarskog-Scott Syndrome	Abnormality of the dentition, Umbilical hernia, Cleft palate, Everted lower lip vermilion, Long p...	ORPHA:915
Facial Clefting, Oblique, 1	Microphthalmia, Coloboma	OMIM:600251
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Chorioretinal coloboma, Iris coloboma, Microphthalmia	OMIM:120433
Jacobsen Syndrome	Macrocephaly, Iris coloboma, Hydrocephalus, Missing ribs, Holoprosencephaly, Microphthalmia, Chor...	OMIM:147791
Camptodactyly Syndrome, Guadalajara Type 1	Abnormality of dental eruption, High palate, Spina bifida, Mandibular prognathia, Narrow mouth, D...	ORPHA:1327
Autosomal Recessive Spastic Paraplegia Type 77	Loss of ambulation, Retrognathia, Scissor gait, Macrodontia of permanent maxillary central incisor	ORPHA:466722
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Holoprosencephaly, Aqueductal stenosis, Agenesis of corpus callosum, Hydrocephalus	ORPHA:2182
Pettigrew Syndrome	Hydrocephalus, Choreoathetosis, Aqueductal stenosis, Mandibular prognathia, Calvarial osteosclero...	OMIM:304340
Fibular Hemimelia	Foot oligodactyly, Spina bifida, Limb undergrowth, Short tibia, Short femur, Proximal femoral foc...	ORPHA:93323
Mandibulofacial Dysostosis With Alopecia	Trismus, Everted lower lip vermilion, Cleft palate, Dental crowding, Glossoptosis, Micrognathia, ...	OMIM:616367
Mohr-Tranebjaerg Syndrome	Abnormal posturing	OMIM:304700
Familial Acute Necrotizing Encephalopathy	Cerebral edema, Abnormal putamen morphology, Abnormality of thalamus morphology	ORPHA:88619
Adenohypophysitis	Abnormal thalamic MRI signal intensity, Increased circulating prolactin concentration, Gonadotrop...	ORPHA:95512
Meckel Syndrome, Type 2	Encephalocele, Meningocele, Microphthalmia, Anencephaly, Dandy-Walker malformation	OMIM:603194
16Q24.3 Microdeletion Syndrome	Colpocephaly, Biparietal narrowing, Optic nerve hypoplasia, Ventriculomegaly, Micrognathia, Hypop...	ORPHA:261250
Crouzon Syndrome	Narrow palate, Hypoplasia of the maxilla, Hydrocephalus	ORPHA:207
Mycophenolate Mofetil Embryopathy	Iris coloboma, Hydrocephalus, Microphthalmia, Short palm, Chorioretinal coloboma, Micrognathia, A...	ORPHA:268249
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Steppage gait, Inability to walk by childhood/adolescence, Hydrocephalus	ORPHA:99947
Microphthalmia, Isolated, With Coloboma 3	Iris coloboma, Microphthalmia	OMIM:610092
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia	OMIM:611038
3Mc Syndrome 2	High palate, Broad philtrum, Cleft palate, Downturned corners of mouth, Cleft upper lip, Prominen...	OMIM:265050
Microphthalmia, Syndromic 8	Mandibular prognathia, Microcephaly, Microphthalmia	OMIM:601349
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Cleft palate, Anencephaly, Non-midline cleft lip, Spina bifida	ORPHA:2476
Infantile Sialic Acid Storage Disease	High palate, Gingival overgrowth, Hydrocephalus, Failure to thrive	OMIM:269920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Type II lissencephaly, Polymicrogyria, Hydrocephalus, Malar flattening, Microphthalmia, Buphthalm...	OMIM:253280
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aplasia/Hypoplasia of the ribs, Abnormal optic disc morphology, Iris coloboma, Spina bifida, Mand...	ORPHA:508498
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Japanese Encephalitis	Abnormality of the internal capsule, Abnormal caudate nucleus morphology, Paucity of anterior hor...	ORPHA:79139
Distal 7Q11.23 Microduplication Syndrome	Frontal encephalocele, Hydrocephalus	ORPHA:261102
Marden-Walker Syndrome	Inferior cerebellar vermis hypoplasia, Dandy-Walker malformation, Microphthalmia, Hypoplasia of t...	OMIM:248700
Amelogenesis Imperfecta, Type Ic	Taurodontia, Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion,...	OMIM:204650
Triploidy	Macroglossia, Hydrocephalus, Meningocele, Holoprosencephaly, Cleft palate, Narrow mouth, Non-midl...	ORPHA:3376
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Lujan-Fryns Syndrome	High palate, Abnormality of the dentition, Dental crowding, Micrognathia, Short philtrum, Hypopla...	ORPHA:776
Angelman Syndrome	Macroglossia, Ataxia, Widely spaced teeth, Mandibular prognathia, Progressive gait ataxia, Protru...	OMIM:105830
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors, Micrognathia	OMIM:610706
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypoplasia of the frontal lobes, Olivopontocerebellar hypoplasia, Optic nerve hypoplasia, Ventric...	ORPHA:468631
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Death in infancy, Focal T2 hyperintense thalamic lesion	OMIM:619046
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Short thumb, Microphthalmia, Anencephaly, Advanced eruption of teeth, Micrognathia...	OMIM:619148
Microphthalmia, Syndromic 6	Inferior cerebellar vermis hypoplasia, Retrognathia, Aplasia of the optic tract, Coloboma, Microp...	OMIM:607932
Gracile Bone Dysplasia	Death in infancy, Aniridia, Microphthalmia, Hydrocephalus	OMIM:602361
Spondyloenchondrodysplasia	Short distal phalanx of finger, Abnormal lateral ventricle morphology, Limb undergrowth, Decrease...	ORPHA:1855
Cerebrooculofacioskeletal Syndrome 2	Death in childhood, Microcephaly, Microphthalmia, Micrognathia	OMIM:610756
Helsmoortel-Van Der Aa Syndrome	Short lower limbs, Decreased response to growth hormone stimulation test, Lateral ventricle dilat...	OMIM:615873
Congenital Muscular Dystrophy, Fukuyama Type	Ventriculomegaly, Gait disturbance, Hydrocephalus	ORPHA:272
Leigh Syndrome	Abnormal thalamic MRI signal intensity, Focal T2 hyperintense basal ganglia lesion, Neuronal loss...	ORPHA:506
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Emanuel Syndrome	High palate, Tooth malposition, Bifid uvula, Hydrocephalus, Submucous cleft lip, Broad jaw, Ventr...	ORPHA:96170
Neuroferritinopathy	Abnormal thalamic MRI signal intensity, T2 hypointense thalamus, Abnormal caudate nucleus morphol...	ORPHA:157846
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Agenesis of corpus callosum, Hydrocephalus	OMIM:307000
Seckel Syndrome 2	Cerebellar hypoplasia, Microcephaly, Microphthalmia, Micrognathia	OMIM:606744
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Microphthalmia, Ventriculomegaly, Chorioretinal coloboma, Optic disc colobom...	OMIM:120200
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Narrow mouth, Hydrocephalus	ORPHA:83473
Intellectual Developmental Disorder, X-Linked 30	High palate, Open mouth, Hydrocephalus, Thick upper lip vermilion, Thin upper lip vermilion	OMIM:300558
Fg Syndrome Type 1	Open mouth, High palate, Slender build, Hydrocephalus, Malar flattening, Umbilical hernia, Broad-...	ORPHA:93932
Obsolete: Arnold-Chiari Malformation Type Ii	Partial agenesis of the corpus callosum, Myelomeningocele, Meningocele, Hydrocephalus, Aqueductal...	ORPHA:1136
Charge Syndrome	Absent radius, Absent tibia, Short thumb, Malar flattening, Umbilical hernia, Iris coloboma, Holo...	OMIM:214800
Neurofaciodigitorenal Syndrome	Abnormality of the philtrum, Abnormal oral mucosa morphology, Mandibular prognathia, Hypoplasia o...	ORPHA:2673
Pycnodysostosis	High palate, Abnormality of the dentition, Overweight, Persistence of primary teeth, Delayed erup...	ORPHA:763
Braddock-Carey Syndrome 2	Retrognathia, Microcephaly, Microphthalmia	OMIM:619981
Congenital Disorder Of Glycosylation, Type Iim	Cerebral atrophy, Mandibular prognathia, Enamel hypoplasia, Lateral ventricle dilatation, Microce...	OMIM:300896
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Agenesis of cerebellar vermis, Agenesis of corpus callosum, Microphthalmia, Encephalocele	ORPHA:228390
Albers-Schönberg Osteopetrosis	Abnormality of the dentition, Mandibular osteomyelitis, Carious teeth, Hydrocephalus	ORPHA:53
Cataract 9, Multiple Types	Iris coloboma, Microphthalmia	OMIM:604219
Joubert Syndrome 22	Agenesis of cerebellar vermis, Temporal cortical atrophy, Microphthalmia, Hypoplasia of the corpu...	OMIM:615665
Cat-Eye Syndrome	Chorioretinal coloboma, Iris coloboma, Microphthalmia	ORPHA:195
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Emanuel Syndrome	High palate, Hydrocephalus, Broad jaw, Ventriculomegaly, Cleft palate, Failure to thrive, Dental ...	OMIM:609029
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Small for gestational age, High palate, Hyperplasia of the maxilla, Failure to thrive, Micrognathia	OMIM:620194
Microcephaly-Capillary Malformation Syndrome	Small for gestational age, Cleft palate, Extra-axial cerebrospinal fluid accumulation, Failure to...	OMIM:614261
Ritscher-Schinzel Syndrome 3	Short first metatarsal, Death in infancy, Relative macrocephaly, Shortening of all distal phalang...	OMIM:619135
Kapur-Toriello Syndrome	Polymicrogyria, Iris coloboma, Microphthalmia, Dysplastic corpus callosum, Pachygyria, Retinal co...	ORPHA:2328
Tay-Sachs Disease	Abnormal thalamic MRI signal intensity, Global brain atrophy, Ventriculomegaly, Hypointensity of ...	ORPHA:845
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia	OMIM:601809
Craniofacial-Deafness-Hand Syndrome

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