Gene Summary

Name:
ventral anterior homeobox 1
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Vax1tm1b(KOMP)Mbp HOM   Early adult 0.00
increased circulating alkaline phosphatase level Vax1tm1b(KOMP)Mbp HET   Early adult 2.23×10-05
decreased circulating glucose level Vax1tm1b(KOMP)Mbp HET Early adult 7.39×10-09
abnormal sinus arrhythmia Vax1tm1b(KOMP)Mbp HET Early adult 6.49×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote Not available
Eye N/A heterozygote 50% (1 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thalamus N/A heterozygote 100% (2 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 2)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Adult LacZ

LacZ Images Section

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

6 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

3 Images

Auditory Brain Stem Response

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

7 Images

Electroretinography 2

Rod and cone PDF

4 Images

Human diseases caused by Vax1 mutations

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

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

The table below shows human diseases associated to Vax1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Cleft palate, Cleft upper lip, Agenesis of corpus callosum OMIM:614402

The table below shows human diseases predicted to be associated to Vax1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Holoprosencephaly 7
Hypoplastic nasal septum, Hypoplasia of the premaxilla, Alobar holoprosencephaly, Bilateral cleft... OMIM:610828
Melanocytic Nevus Syndrome, Congenital
Broad nasal tip, Long philtrum, Anteverted nares, Open mouth, Prominence of the premaxilla, Narro... OMIM:137550
Microphthalmia/Coloboma 4
Coloboma OMIM:251505
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Malan Syndrome
Ventriculomegaly, Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla,... OMIM:614753
Microphthalmia/Coloboma 5
Orofacial cleft, Holoprosencephaly, Iris coloboma, Chorioretinal coloboma OMIM:611638
Familial Median Cleft Of The Upper And Lower Lips
Diastema, Abnormal mandible morphology, Cleft upper lip, Cleft lower lip, Irregular dentition, Me... ORPHA:401942
Holoprosencephaly 2
Bifid uvula, Anterior pituitary agenesis, Alobar holoprosencephaly, Semilobar holoprosencephaly, ... OMIM:157170
Dislocation Of The Hip-Dysmorphism Syndrome
Wide nasal bridge, Depressed nasal ridge, Anteverted nares, Narrow mouth, Malar flattening, Abnor... ORPHA:2412
Holoprosencephaly 4
Depressed nasal bridge, Semilobar holoprosencephaly, Depressed nasal tip, Median cleft palate, Me... OMIM:142946
Maxillonasal Dysplasia
Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Tooth agenesis, Open bi... ORPHA:1248
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Depressed nasal ridge, Tooth agenesis, Bilateral cleft palate, Meningocele, Absent nasal septal c... ORPHA:2003
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Retrognathia, Anteverted nares, Micrognathia, Median cleft palate, Gingiva... ORPHA:1832
Microphthalmia, Isolated 4
Coloboma OMIM:613094
Intellectual Developmental Disorder, Autosomal Recessive 69
Microcephaly, Ventriculomegaly, Hyperplasia of the maxilla OMIM:618383
Chudley-Mccullough Syndrome
Polymicrogyria, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Cerebellar hypopla... OMIM:604213
Holoprosencephaly 11
Cleft lip, Agenesis of corpus callosum, Microcephaly, Holoprosencephaly, Cleft palate OMIM:614226
Intellectual Developmental Disorder With Or Without Peripheral Neuropathy
Wide nasal bridge, Retrognathia OMIM:619844
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Cleft upper lip, Anterior encephalocele, Absent septum pellucidum, Bilateral cleft... OMIM:601357
Rubinstein-Taybi Syndrome 2
Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Intestinal malrotation, Prominen... OMIM:613684
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Fusion of the left and right thalami, Hydrocephalus, Agen... OMIM:617542
Distal Monosomy 7Q36
Optic atrophy, Micrognathia, Microcephaly, Holoprosencephaly, Wide mouth, Non-midline cleft of th... ORPHA:1636
Carey-Fineman-Ziter Syndrome 2
High, narrow palate, Dental crowding, Velopharyngeal insufficiency, Underdeveloped nasal alae, Do... OMIM:619941
Isolated Arrhinia
Tessier cleft, Underdeveloped nasal alae, Midline defect of the nose, Aplasia/Hypoplasia of the n... ORPHA:1134
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide nasal bridge, Cholelithiasis, Prominent nose, Prominence of the premaxilla, Microcephaly, Hy... OMIM:614886
Filippi Syndrome
Wide nasal bridge, Underdeveloped nasal alae, Serrated incisors, Abnormal dental morphology, Cryp... OMIM:272440
Coloboma Of Macula With Type B Brachydactyly
Coloboma OMIM:120400
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Cerebral atrophy, Agenesis of corpus callosum, Microcephaly, Coloboma OMIM:274270
Seckel Syndrome 4
Microcephaly, Retrognathia, Underdeveloped nasal alae OMIM:613676
Intellectual Developmental Disorder, Autosomal Recessive 68
Wide nasal bridge, Microcephaly, Hypoplasia of the maxilla, Hydrocephalus OMIM:618302
Microphthalmia/Coloboma 6
Coloboma OMIM:613703
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Micr... OMIM:614039
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Cerebellar vermis hypoplasia, Polymicrogyria, Hypoplasia of the brainstem, Hypoplasia of the corp... OMIM:610031
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Type II lissencephaly, Orofacial cleft, Coloboma, Hydrocephalus, Retinal... ORPHA:324416
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla, Subependymal cysts, Bulbous nose, Thin upper lip vermilion, Smooth phi... OMIM:618737
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... ORPHA:199306
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration, Death in infancy, Agenesis of corpus callosum ORPHA:85334
Schizencephaly
Cerebral cortical atrophy, Schizencephaly, Agenesis of corpus callosum OMIM:269160
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Atkin-Flaitz Syndrome
Abnormality of the dentition, Broad nasal tip, Macrocephaly, Anteverted nares, Everted lower lip ... ORPHA:1193
Intellectual Developmental Disorder, X-Linked 104
Wide nasal bridge, Bifid nasal tip, High palate, Retrognathia OMIM:300983
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lissencephaly, Death in childhood, A... OMIM:613153
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Optic atrophy, Parietal cortical atrophy, Narrow mouth, Death in childhood, Death in infancy, Age... OMIM:618766
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
20P12.3 Microdeletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Ventriculomegaly, Long phil... ORPHA:261295
Craniotelencephalic Dysplasia
Optic atrophy, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Hydrocephalus, F... ORPHA:1528
Holoprosencephaly-Caudal Dysgenesis Syndrome
Median cleft upper lip, Microcephaly, Abnormality of the diencephalon, Cyclopia, Holoprosencephal... ORPHA:2165
Frontonasal Dysplasia 1
Wide nasal bridge, Bifid nasal tip, Hypoplasia of the maxilla, Broad nasal tip, Cranium bifidum o... OMIM:136760
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Mandibular osteomyelitis, Dental malocclusion, Periapical bone loss... ORPHA:83451
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Microglossia, Narrow mouth, Abnormal cranial nerve morphology, Agenesis of corpus callosum, Mandi... ORPHA:990
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Cerebral cortical atrophy, Holoprosencephaly, Microcephaly ORPHA:2523
Distal Deletion 13Q
Iris coloboma, Optic atrophy, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Microceph... ORPHA:1590
Solitary Median Maxillary Central Incisor
Cleft upper lip, Decreased response to growth hormone stimulation test, Prominent median palatal ... OMIM:147250
Holoprosencephaly 9
Hypoplasia of the premaxilla, Alobar holoprosencephaly, Cryptorchidism, Bilateral cleft palate, S... OMIM:610829
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Retrognathia, Open mouth, Malar flattening, Macrocephaly, Short nose OMIM:613670
Autosomal Recessive Distal Osteolysis Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Broad nasal tip ORPHA:2776
Recon Progeroid Syndrome
Dental crowding, Underdeveloped nasal alae, Anteverted nares, Prominent nasal bridge, Prominence ... OMIM:620370
Clark-Baraitser syndrome
Broad nasal tip, Exaggerated median tongue furrow, Thick lower lip vermilion, Anteverted nares, P... OMIM:300602
17Q11.2 Microduplication Syndrome
Abnormal dental enamel morphology, Thick nasal alae, Malar flattening, Microcephaly, Enamel hypop... ORPHA:139474
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Micrognathia, Thin upper lip vermilion, Short nose, Cleft palate ORPHA:2015
Acalvaria
Holoprosencephaly, Cleft palate, Hydrocephalus, Spina bifida ORPHA:945
Microcephaly 8, Primary, Autosomal Recessive
Primary microcephaly, Retrognathia OMIM:614673
Duplication Of The Pituitary Gland
Retrognathia, Volvulus, Encephalocele, Agenesis of corpus callosum, Congenital stationary night b... ORPHA:314621
Monosomy 18P
Wide nasal bridge, Tooth malposition, Carious teeth, Downturned corners of mouth, Micrognathia, H... ORPHA:1598
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Hypoplastic anterior commissure, Dysgenesis of the basal ganglia, Hypoplasia of the corpus callos... OMIM:600638
Peho-Like Syndrome
Ventriculomegaly, Retrognathia, Open mouth, Progressive microcephaly, Short nose OMIM:617507
Pierre Robin Syndrome
Micrognathia, Cleft palate, Glossoptosis, Pierre-Robin sequence OMIM:261800
Mesomelic Limb Shortening And Bowing
Micrognathia, Retrognathia, Cleft palate OMIM:249710
Lowry-Maclean Syndrome
High, narrow palate, Choanal atresia, Hypoplasia of the maxilla, Retrognathia, Downturned corners... ORPHA:2409
Pontocerebellar Hypoplasia, Type 15
Hypoplasia of the brainstem, Death in infancy, Agenesis of corpus callosum, Cerebellar hypoplasia... OMIM:619302
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Aplasia/Hypoplasia invo... ORPHA:1529
Polyrrhinia
Abnormal external nose morphology, Lateral ventricle dilatation, Supernumerary naris, Orofacial c... ORPHA:141091
Microhydranencephaly, X-Linked
Microcephaly, Holoprosencephaly OMIM:306990
Aminopterin/Methotrexate Embryofetopathy
Wide nasal bridge, Spinal dysraphism, Micrognathia, Encephalocele, Anencephaly, Microcephaly, Hyd... ORPHA:1908
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Hypoplasia of the maxilla, Prominent nasal bridge, Macrocephaly, High palate, Mandibular prognathia OMIM:300676
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Decreased testicular size, Prominent nasal bridge, Cryptorchidism, Mic... ORPHA:85279
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Cerebral cortical atrophy, Hydranencephaly, Aplasia/Hypoplasia of the corpus callosum, Micrognath... ORPHA:2570
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Optic atrophy, Hypoplasia of the corpus callosum OMIM:613162
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Optic nerve hypoplasia, Lateral ventricle dilatation, Abnormal thalamus morphology, Polymicrogyri... ORPHA:300570
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Pontocerebellar Hypoplasia, Type 14
Hypoplasia of the pons, Hypoplasia of the brainstem, Death in infancy, Agenesis of corpus callosu... OMIM:619301
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... OMIM:166750
Corpus Callosum, Partial Agenesis Of, X-Linked
Inferior cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, ... OMIM:304100
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:610021
Skraban-Deardorff Syndrome
Depressed nasal bridge, Ventriculomegaly, Hyperplasia of the maxilla, Widely spaced teeth, Thick ... OMIM:617616
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Abnormality of the dentition, Abnormal cerebral white matter morpholo... ORPHA:500166
Microcephaly-Microcornea Syndrome, Seemanova Type
Retrognathia, Hypogonadism, Narrow mouth, Microcephaly, High palate ORPHA:2528
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Convex nasal ridge, Thin vermilion border, Short philtrum, Premature l... OMIM:156510
Fetal Akinesia Deformation Sequence 4
Wide nasal bridge, Retrognathia, Micrognathia, Cryptorchidism, High palate OMIM:618393
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Wide nasal bridge, Ventriculomegaly, Dental crowding, Retrognathia, Thick lower lip vermilion, Pe... OMIM:618342
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities
Wide nasal bridge, Retrognathia, Long philtrum, Wide mouth, Cryptorchidism, Thin upper lip vermil... OMIM:619595
Intellectual Disability, Birk-Barel Type
High, narrow palate, Broad nasal tip, Narrow nasal bridge, Micrognathia, Open mouth, Tented upper... ORPHA:166108
Holoprosencephaly 3
Bifid uvula, Depressed nasal bridge, Cleft lip, Ventriculomegaly, Abnormality of the nose, Probos... OMIM:142945
Lissencephaly 4
Agenesis of corpus callosum, Cerebellar hypoplasia, Colpocephaly, Primary microcephaly, Lissencep... OMIM:614019
Perlman Syndrome
High, narrow palate, Wide nasal bridge, Retrognathia, Abnormal pancreas morphology, Anteverted na... ORPHA:2849
Intellectual Developmental Disorder, Autosomal Recessive 41
Ventriculomegaly, Broad nasal tip, Retrognathia, Macrocephaly, High palate, Mandibular prognathia OMIM:615637
Intellectual Developmental Disorder, Autosomal Dominant 21
Ventriculomegaly, Long philtrum, Narrow mouth, Cryptorchidism, Microcephaly, Thin vermilion borde... OMIM:615502
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar vermis hypoplasia, Retinal dysplasia, Focal polymicrogyria, Dysgenesis of the basal ga... OMIM:615771
Intellectual Developmental Disorder, Autosomal Dominant 70
Wide nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Retrognathia, Postnatal macrocepha... OMIM:620157
Agnathia-Otocephaly Complex
Microglossia, Aglossia, Micrognathia, Narrow mouth, Agenesis of corpus callosum, Mandibular aplas... OMIM:202650
Sub-Cortical Nodular Heterotopia
Abnormal cerebral cortex morphology, Polymicrogyria, Abnormal basal ganglia morphology, Hypoplasi... ORPHA:101029
Microphthalmia, Syndromic 12
Wide nasal bridge, Broad nasal tip, Retrognathia, Intestinal malrotation, Micrognathia, Cryptorch... OMIM:615524
Jawad Syndrome
Prominent nose, Primary microcephaly, Retrognathia OMIM:251255
Liang-Wang Syndrome
Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Downturned corners of mout... OMIM:618729
Microphthalmia/Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma OMIM:614497
Otodental Syndrome
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Delayed eruption of teeth,... ORPHA:2791
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Neurogenic bladder, Pachygyria, Abnormality of the anterior commissure, Thin corpus callosum, Opt... ORPHA:572013
Bamforth-Lazarus Syndrome
Choanal atresia, Retrognathia, Congenital hypothyroidism, Thyroid agenesis, Cleft palate ORPHA:1226
Lambotte Syndrome
Semilobar holoprosencephaly, Retrognathia, Narrow mouth, Microcephaly, Convex nasal ridge OMIM:245552
Microform Holoprosencephaly
Cyclopia, Panhypopituitarism, Tented upper lip vermilion, Agenesis of corpus callosum, Solitary m... ORPHA:280200
Coach Syndrome 2
Cerebellar vermis hypoplasia, Chorioretinal coloboma, Agenesis of corpus callosum, Coloboma, Hydr... OMIM:619111
Cornelia De Lange Syndrome 5
Depressed nasal bridge, Ventriculomegaly, Broad nasal tip, Retrognathia, Downturned corners of mo... OMIM:300882
Acitretin/Etretinate Embryopathy
Hypoplastic nasal septum, Anteverted nares, Micrognathia, Median cleft palate, Hypoplasia of the ... ORPHA:40366
Lujan-Fryns Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Macrocephaly, Micrognat... ORPHA:776
Triploidy
Iris coloboma, Aplasia/Hypoplasia of the corpus callosum, Intestinal malrotation, Micrognathia, N... ORPHA:3376
Lissencephaly, X-Linked, 1
Death in infancy, Agenesis of corpus callosum, Pachygyria, Agyria, Lissencephaly OMIM:300067
Pierre Robin Sequence With Facial And Digital Anomalies
Micrognathia, Cleft palate, Glossoptosis, Pierre-Robin sequence OMIM:311895
Hartsfield Syndrome
Non-midline cleft of the upper lip, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Lob... ORPHA:2117
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... ORPHA:79299
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Decreased thalamic volume, Retrognathia, Long philtrum, Microcephaly, High palate OMIM:619072
Isolated Pierre Robin Syndrome
Micrognathia, Cleft palate, Glossoptosis ORPHA:718
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebellar... OMIM:608716
Pontocerebellar Hypoplasia, Type 1F
Depressed nasal bridge, Retrognathia, Long philtrum, Anteverted nares, Smooth philtrum, Microceph... OMIM:619304
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Cerebellar hypoplasia, Polymicrogyria, Primary microcephaly, Agenesis of corpus callosum ORPHA:171703
Lissencephaly 3
Cerebellar vermis hypoplasia, Polymicrogyria, Hypoplasia of the brainstem, Hypoplasia of the corp... OMIM:611603
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Wide nasal bridge, Ventriculomegaly, Retrognathia, Long philtrum, Prominent nasal bridge, Microce... OMIM:619556
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Hypoplasia of the pons, Cerebral atrophy, Retinopathy, Cerebellar hypoplasia, Micr... OMIM:616171
Cerebrooculofacioskeletal Syndrome 3
Cerebellar hypoplasia, Microcephaly, Cleft palate, Agenesis of corpus callosum OMIM:616570
Fetal Akinesia Syndrome, X-Linked
Stillbirth, Agenesis of corpus callosum OMIM:300073
Craniotelencephalic Dysplasia
Absent septum pellucidum, Agenesis of corpus callosum, Cerebellar hypoplasia, Frontal encephaloce... OMIM:218670
Polymicrogyria With Optic Nerve Hypoplasia
Polymicrogyria, Hypoplasia of the brainstem, Agenesis of corpus callosum, Dysplastic corpus callo... ORPHA:250972
Arthrogryposis, Distal, Type 1C
Bifid uvula, Cleft lip, Retrognathia, Pursed lips, Narrow mouth, Cryptorchidism, Thin vermilion b... OMIM:619110
Coloboma Of Macula
Macular coloboma OMIM:120300
Cohen Syndrome
High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill... OMIM:216550
Pierre Robin Syndrome And Oligodactyly
Micrognathia, Cleft palate, Pierre-Robin sequence OMIM:172880
3Mc Syndrome 2
Wide nasal bridge, Downturned corners of mouth, Cleft upper lip, Depressed nasal tip, Prominent n... OMIM:265050
Spastic Paraplegia 81, Autosomal Recessive
Bifid uvula, Optic atrophy, Retinal vascular tortuosity, Periventricular white matter hyperintens... OMIM:618768
Ck Syndrome
Dental crowding, Retrognathia, Micrognathia, Prominent nasal bridge, Malar flattening, Microcepha... OMIM:300831
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Long philtrum, Cleft palate, Short nose ORPHA:90653
Braddock-Carey Syndrome 2
Retrognathia, Bulbous nose, Microcephaly, Wide mouth, Cleft palate, Pierre-Robin sequence OMIM:619981
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Microretrognathia, Narrow mouth, High palate, Cleft palate OMIM:246560
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Depressed nasal bridge, Delayed eruption of teeth, Underdeveloped nasal alae, Abnormal dental mor... ORPHA:2025
X-Linked Intellectual Disability, Porteous Type
Short philtrum, Bulbous nose, Hypoplasia of the maxilla, Mandibular prognathia ORPHA:93945
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Abnormal number of incisors, Prominent nose, Retrognathia, Cryptorchidism ORPHA:2958
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Umbilical hernia, Intestinal malrotation, Micrognathia, Narrow mout... ORPHA:2166
Keipert Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Prominent nasal bridge, Tented upper lip vermi... ORPHA:2662
Holoprosencephaly 13, X-Linked
Alobar holoprosencephaly, Semilobar holoprosencephaly, Micrognathia, Median cleft palate, Submuco... OMIM:301043
X-Linked Intellectual Disability, Sutherland-Haan Type
Hypoplasia of the maxilla, Decreased testicular size, Microcephaly, Anal atresia, Mandibular prog... ORPHA:93950
Corpus Callosum, Agenesis Of
Microcephaly, Agenesis of corpus callosum OMIM:217990
Macrocephaly, Acquired, With Impaired Intellectual Development
Probst bundles, Thin corpus callosum, Long philtrum, Agenesis of corpus callosum OMIM:618286
Intellectual Developmental Disorder, Autosomal Recessive 45
Wide nasal bridge, Retrognathia, Bulbous nose, Anteverted nares, Thick vermilion border OMIM:615979
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Absent septum pellucidum, Agenesis of corpus callosum, Hydrocephalus, Aqueductal stenosis, Holopr... ORPHA:2182
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Optic atrophy, Periventricular leukomalacia, Agenesis of corpus callosum OMIM:618324
Intellectual Disability And Myopathy Syndrome
Broad nasal tip, Dental malocclusion, Thin upper lip vermilion, Incisor macrodontia, Widely-space... OMIM:619719
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities
Bifid uvula, Ventriculomegaly, Retrognathia, Dilated fourth ventricle, Agenesis of corpus callosu... OMIM:620428
Microcephaly 17, Primary, Autosomal Recessive
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cere... OMIM:617090
Chromosome 3Q13.31 Deletion Syndrome
Short philtrum, High palate, Alobar holoprosencephaly, Agenesis of corpus callosum OMIM:615433
Axenfeld-Rieger Syndrome, Type 2
Wide nasal bridge, Hypoplasia of the maxilla, Anal stenosis, Umbilical hernia, Cryptorchidism, Mi... OMIM:601499
Isolated Exencephaly
Depressed nasal bridge, Hypoplasia of the frontal bone, Abnormal facial skeleton morphology, Agen... ORPHA:563612
Mandibulofacial Dysostosis With Alopecia
Wide nasal bridge, Hypoplasia of the maxilla, Dental crowding, Micrognathia, Delayed eruption of ... OMIM:616367
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Cerebral atrophy, Hypoplasia of the brainstem, Absent septum pellucidum, Hypoplasia of the corpus... OMIM:618492
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Choanal atresia, Hypoplasia of the maxilla, Malar flattening, Abnormal palate morphology, Hydroce... ORPHA:93262
Intellectual Developmental Disorder, Autosomal Recessive 70
Wide nasal bridge, Microcephaly, Retrognathia OMIM:618402
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate OMIM:119540
Seckel Syndrome 5
Retrognathia, Selective tooth agenesis, Micrognathia, Prominent nasal bridge, Cryptorchidism, Oli... OMIM:613823
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Wide nasal bridge, Ventriculomegaly, Velopharyngeal insufficiency, Long philtrum, Intestinal malr... OMIM:614701
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of corpus callosum ORPHA:401830
Baraitser-Winter Syndrome 2
Retrognathia, Long philtrum, Secondary microcephaly, Agenesis of corpus callosum, Thin upper lip ... OMIM:614583
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Coloboma, Cleft palate, Cleft upper lip OMIM:600251
Axenfeld-Rieger Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Anal stenosis, Microdontia,... ORPHA:782
Prieto Syndrome
Abnormality of the dentition, Prominent nose, Retrognathia, Cryptorchidism OMIM:309610
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of corpus callosum ORPHA:401820
8Q22.1 Microdeletion Syndrome
Wide nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Abnormality of the dentition... ORPHA:178303
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Optic atrophy, Decreased thalamic volume, Occipital encephalo... ORPHA:370959
Lissencephaly Due To Tuba1A Mutation
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Dysgenesis of the basal ganglia, Polymicrog... ORPHA:171680
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Micrognathia, Narrow mouth, Everted lower lip vermilion, Cleft palate ORPHA:2016
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Retrognathia, Micrognathia, Submucous cleft hard palate, Microcephaly, Mandibular pr... ORPHA:2521
Muscle-Eye-Brain Disease
Optic atrophy, Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Isolated Corpus Callosum Agenesis
Agenesis of corpus callosum ORPHA:200
Aarskog-Scott Syndrome
Wide nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Delayed eruption of t... ORPHA:915
49,Xxxxy Syndrome
Depressed nasal ridge, Depressed nasal bridge, Carious teeth, Delayed eruption of teeth, Abnormal... ORPHA:96264
Pallister-Hall-Like Syndrome
Depressed nasal bridge, Microglossia, Occipital encephalocele, Macrocephaly, Micrognathia, Median... OMIM:241800
Lowry-Maclean Syndrome
Convex nasal ridge, Microcephaly, Delayed eruption of teeth, Cleft palate OMIM:600252
Ventriculomegaly And Arthrogryposis
Cerebellar hypoplasia, Agenesis of corpus callosum OMIM:619501
Masa Syndrome
Microcephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:303350
Temtamy Preaxial Brachydactyly Syndrome
Tooth malposition, Hypoplasia of the maxilla, Abnormality of canine, Abnormality of the dentition... ORPHA:363417
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio... OMIM:257850
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Palpitations, Hypoketotic hypoglycemia, R... ORPHA:324575
Chromosome 1Q41-Q42 Deletion Syndrome
Depressed nasal bridge, Ventriculomegaly, Broad nasal tip, Cleft upper lip, Supernumerary nipple,... OMIM:612530
Developmental And Epileptic Encephalopathy 88
Inferior cerebellar vermis hypoplasia, Hypoplasia of the pons, Progressive microcephaly, Everted ... OMIM:618959
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Wide nasal bridge, Choanal atresia, Bifid nasal tip, Downturned corners of mouth, Underdeveloped ... ORPHA:521308
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hypoplasia of the brainstem, Type II lissencephaly, Agenesis of corpus callosum, Cerebellar hypop... OMIM:615249
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Hypoplasia of the pons, Lateral ventricle dilatation, Dysgen... ORPHA:300573
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Retrognathia, Broad columella, Lateral ventricle dilatation, Thick nasal alae, Bulbous nose, Depr... ORPHA:293725
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Wide nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Anteverted nares, Abnormality of p... ORPHA:438216
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus
Open bite, Dental crowding, Hyperplasia of the maxilla OMIM:613671
Chromosome 3Pter-P25 Deletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Retrognathia, Downturned corners of m... OMIM:613792
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Aicardi Syndrome
Precocious puberty, Dilated third ventricle, Lateral ventricle dilatation, Cleft upper lip, Antev... OMIM:304050
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Holoprosencephaly, Hydrocephalus OMIM:617967
Marshall-Smith Syndrome
Cryptorchidism, Irregular dentition, Prominence of the premaxilla, Agenesis of corpus callosum, H... OMIM:602535
Parc Syndrome
Microretrognathia, Cleft palate OMIM:600331
Autism Spectrum Disorder Due To Auts2 Deficiency
Wide nasal bridge, Retrognathia, Umbilical hernia, Anteverted nares, Micrognathia, Narrow mouth, ... ORPHA:352490
Mismatch Repair Cancer Syndrome 4
Colon cancer, Adenomatous colonic polyposis, Agenesis of corpus callosum OMIM:619101
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Malar flattening, Hypodontia, Alveolar pro... ORPHA:2972
Craniopharyngioma
Optic atrophy, Increased circulating prolactin concentration, Hypopituitarism, Cerebral calcifica... ORPHA:54595
Band Heterotopia
Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Hydrocephalus, Subcort... OMIM:600348
6Q16 Microdeletion Syndrome
Depressed nasal bridge, Retrognathia, Bulbous nose, Anteverted nares, Micrognathia, Macrocephaly ORPHA:171829
Orofaciodigital Syndrome Xix
Wide nasal bridge, Narrow palate, Bifid nasal tip, Carious teeth, Retrognathia, Underdeveloped na... OMIM:620107
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Retrognathia, Anteverted nares, Prominent nasal bridge, High palate, Wide mouth OMIM:615722
Microcephaly 16, Primary, Autosomal Recessive
Simplified gyral pattern, Open mouth, Primary microcephaly, Agenesis of corpus callosum OMIM:616681
Intellectual Developmental Disorder, Autosomal Recessive 67
Coloboma OMIM:618295
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Retrognathia, Umbilical hernia, Secondary microcephaly, Anteverted nares, Protruding... OMIM:612938
Cardioacrofacial Dysplasia 1
Conical tooth, Hypoplasia of the maxilla, Diastema, Overhanging nasal tip, Short philtrum, Access... OMIM:619142
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Microglossia, Microretrognathia, Prominent nasal bridge, Narrow mouth,... ORPHA:1307
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Pursed lips, Aglossia, Micrognathia, Malar flattening, Choanal stenosis OMIM:241310
Usmani-Riazuddin Syndrome, Autosomal Recessive
High palate, Agenesis of corpus callosum OMIM:619548
Cortical Dysplasia, Complex, With Other Brain Malformations 11
High, narrow palate, Ventriculomegaly, Retrognathia, Long philtrum, Micrognathia, Ileus, Agenesis... OMIM:620156
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hypoplasia of the maxilla, Dental crowding, Narrow nose, Narrow nasal bridge, Micrognathia, Promi... OMIM:309520
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Meckel diverticulum, Retrognathia, Thick nasal alae, Micrognathia, Hydrocephalu... ORPHA:163961
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Crowded maxillary incisors, Macrocephaly ORPHA:397973
Mandibulofacial Dysostosis-Microcephaly Syndrome
Hypoplasia of the maxilla, Secondary microcephaly, Micrognathia, Malar flattening, Short nose, Cl... ORPHA:79113
Propionic Acidemia
Hypoglycemia, Arrhythmia, Hyperammonemia, Cardiomyopathy ORPHA:35
1Q41Q42 Microdeletion Syndrome
Depressed nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Cryptorchidism, Submucous cle... ORPHA:250999
Orofaciodigital Syndrome Ii
Bifid nasal tip, Hypoplasia of the maxilla, Broad nasal tip, Depressed nasal bridge, Micrognathia... OMIM:252100
Oculoauriculofrontonasal Syndrome
Bifid nasal tip, Cleft lip, Underdeveloped nasal alae, Micrognathia, Narrow mouth, Encephalocele,... ORPHA:398156
Alg13-Cdg
Abnormal lateral ventricle morphology, Anteverted nares, Long philtrum ORPHA:324422
Halperin-Birk Syndrome
Optic atrophy, Semilobar holoprosencephaly, Micrognathia, Death in childhood, Agenesis of corpus ... OMIM:618651
Crouzon Syndrome
Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Convex nasal ridge, Narrow palate ORPHA:207
Dental Anomalies And Short Stature
Hypoplasia of the maxilla, Widely spaced teeth, Oligodontia, Microdontia, Amelogenesis imperfecta... OMIM:601216
Abruzzo-Erickson Syndrome
Coloboma OMIM:302905
Epilepsy, Progressive Myoclonic, 9
Simplified gyral pattern, Microglossia, Agenesis of corpus callosum OMIM:616540
Warburg Micro Syndrome 1
Cerebellar vermis hypoplasia, Optic atrophy, Cerebral atrophy, Narrow mouth, Hypoplasia of the co... OMIM:600118
Developmental And Epileptic Encephalopathy 66
Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Downturned corners of mout... OMIM:618067
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Notched primary central incisor, Hydrocele testis, Microcephaly, Macrocephaly OMIM:620062
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Triangular mouth, Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesis of corpus callosum ORPHA:166024
Myasthenic Syndrome, Congenital, 23, Presynaptic
Agenesis of corpus callosum OMIM:618197
Pfeiffer Syndrome
Choanal atresia, Hypoplasia of the maxilla, Depressed nasal bridge, Dental crowding, Choanal sten... OMIM:101600
Walker-Warburg Syndrome
Lissencephaly, Bifid uvula, Abnormal cortical gyration, Retinal dystrophy, Optic atrophy, Abnorma... ORPHA:899
Treacher Collins Syndrome 4
Micrognathia, Malar flattening, Microcephaly, Choanal stenosis, Cleft palate OMIM:618939
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Long philtrum, Agenesis of corpus callosum, Thin upper lip vermilion, Short philtrum, Smooth phil... OMIM:618929
Hartsfield Syndrome
Hypoplasia of the frontal bone, Alobar holoprosencephaly, Semilobar holoprosencephaly, Cleft uppe... OMIM:615465
Joubert Syndrome 14
Cerebellar vermis hypoplasia, Optic atrophy, Hypoplasia of the brainstem, Agenesis of cerebellar ... OMIM:614424
Teebi Hypertelorism Syndrome 2
Depressed nasal bridge, Broad nasal tip, Delayed eruption of teeth, Microdontia, Thin upper lip v... OMIM:619736
Catifa Syndrome
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Anteverted nares, Increas... OMIM:618761
Congenital Disorder Of Glycosylation, Type Iiy
Cerebral cortical atrophy, Thin corpus callosum, Microcephaly, Agenesis of corpus callosum OMIM:620200
Oculoskeletodental Syndrome
Wide nasal bridge, Depressed nasal bridge, Abnormality of the dentition, Broad columella, Retrogn... ORPHA:557003
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal corpus striat... ORPHA:397725
Weiss-Kruszka Syndrome
Dysplastic corpus callosum, Broad philtrum, Decreased response to growth hormone stimulation test... ORPHA:502430
16P13.11 Microdeletion Syndrome
Cleft upper lip, Exaggerated cupid's bow, Agenesis of corpus callosum, Thin upper lip vermilion, ... ORPHA:261236
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Cardiomyopathy OMIM:609016
Foxp1 Syndrome
Recurrent upper respiratory tract infections, Broad nasal tip, Retrognathia, Downturned corners o... ORPHA:391372
Biemond Syndrome Type 2
Coloboma, Hydrocephalus ORPHA:141333
Pontocerebellar Hypoplasia, Type 12
Primary microcephaly, Micrognathia, Lateral ventricle dilatation OMIM:618266
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Polymicrogyria, Type II lissencephaly, Agyria, Encephalocele, Agenesis of corpus c... OMIM:253800
Joubert Syndrome 16
Coloboma, Encephalocele, Dandy-Walker malformation, Retinal dystrophy OMIM:614465
Cardiomyopathy, Dilated, 2F
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:619747
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Masa Syndrome
Agenesis of corpus callosum ORPHA:2466
Monosomy 5P
Wide nasal bridge, Microcephaly, High palate, Microretrognathia ORPHA:281
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Wide nasal bridge, Hypoplasia of the maxilla, Ventriculomegaly, Agenesis of corpus callosum, High... OMIM:218000
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Thin upper lip vermilion, Hyperplasia of the maxilla OMIM:618587
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Hypoplasia of the maxilla, Microretrognathia, Long philtrum, Anteverted nares, Thick vermilion bo... ORPHA:228396
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Convex nasal ridge, Abnormal palate morphology ORPHA:1540
3Q13 Microdeletion Syndrome
Long philtrum, Agenesis of corpus callosum ORPHA:1621
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Carious teeth, Abnormality of the nose, Retrognathia, Malar flattening, Abnormal palate morphology ORPHA:1390
Developmental Delay, Dysmorphic Facies, And Brain Anomalies
Depressed nasal bridge, Retrognathia, Microcephaly, Deep philtrum, Mandibular prognathia OMIM:620535
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Wide nasal bridge, Retrognathia, Long philtrum, Partial agenesis of the corpus callosum, Macrocep... OMIM:620250
Orofacial Cleft 13
Retrognathia, Cleft soft palate, Micrognathia, Malar flattening, Oligodontia OMIM:613857
Intellectual Disability, Wolff Type
Wide nasal bridge, Microretrognathia, Thick lower lip vermilion, Bulbous nose, Cryptorchidism, Ab... ORPHA:3080
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly OMIM:300706
Pancreatic Agenesis-Holoprosencephaly Syndrome
Abnormal external nose morphology, Neonatal insulin-dependent diabetes mellitus, Semilobar holopr... ORPHA:556955
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Recurrent upper respiratory tract infections, Retrognathia, Anteverted na... OMIM:614069
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Depressed nasal bridge, Ventriculomegaly, Micrognathia, Tented upper lip vermilion, Exaggerated c... OMIM:619833
Hydrolethalus
Bifid uvula, Gingival cleft, Retrognathia, Unilateral cleft lip, Micrognathia, Cryptorchidism, Su... ORPHA:2189
Orofaciodigital Syndrome Xvii
High, narrow palate, Ventriculomegaly, Retrognathia, Prominent nose, Median cleft upper lip OMIM:617926
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Microcephaly, Motor axonal neuropathy OMIM:618276
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Iris coloboma OMIM:610023
Joubert Syndrome 15
Coloboma, Retinopathy, Exencephaly, Retinal dystrophy OMIM:614464
Distal Xq28 Microduplication Syndrome
Epistaxis, Hypoplasia of the maxilla, Broad nasal tip, Recurrent upper respiratory tract infectio... ORPHA:293939
Dystonia 30
Diffuse cerebral atrophy, Globus pallidus hypointensity on susceptibility-weighted imaging, Hypot... OMIM:619291
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
High palate, Enamel hypoplasia, Retrognathia OMIM:617915
Mosaic Trisomy 14
Wide nasal bridge, Anteverted nares, Micrognathia, Prominent nasal bridge, Cryptorchidism, Ectopi... ORPHA:1703
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Temporomandibular... OMIM:614669
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Cleft palate, Agenesis of corpus callosum OMIM:614120
Atelosteogenesis, Type Iii
Depressed nasal bridge, Hypoplasia of the maxilla, Micrognathia, Malar flattening, Cleft palate OMIM:108721
Congenital Arthrogryposis With Anterior Horn Cell Disease
Retrognathia, Micrognathia, Cryptorchidism, Microcephaly, High palate OMIM:611890
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Leukoencephalopathy, Reduced cerebral white matter volume, Secondary microcephaly, Dysplastic cor... OMIM:620317
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Ventriculomegaly, Downturned corners of mouth, Lateral ventricle dilatati... OMIM:613443
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Cerebral atrophy, Agenesis of corpus callosum ORPHA:85179
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Hyperplasia of the maxilla, Prominent nose, Micrognathia, Microcephaly, High palate, Diabetes mel... OMIM:620194
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Thin vermilion border, Retrognathia, Cleft palate ORPHA:2631
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Lissencephaly 7 With Cerebellar Hypoplasia
Downturned corners of mouth, Death in infancy, Neonatal death, Agenesis of corpus callosum, Cereb... OMIM:616342
Vissers-Bodmer Syndrome
Holoprosencephaly OMIM:619033
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Lateral ventricle dilatation, Retinal pigment epithelial mottling, Tented upper lip vermilion, De... OMIM:619517
Alfadhel Syndrome
Retrognathia, Bulbous nose, Smooth philtrum, Microcephaly, Thin vermilion border, Short philtrum OMIM:620655
Hamel Cerebro-Palato-Cardiac Syndrome
Wide nasal bridge, Bulbous nose, Micrognathia, Narrow mouth, Malar flattening, Microcephaly, Clef... ORPHA:93946
Verheij Syndrome
Wide nasal bridge, Broad nasal tip, Retrognathia, Long philtrum, Branchial cyst, Anteverted nares... OMIM:615583
Gaba-Transaminase Deficiency
Retrognathia, Agenesis of corpus callosum OMIM:613163
Orofaciodigital Syndrome Xiv
Natal tooth, Occipital encephalocele, Micrognathia, Hypoplasia of the corpus callosum, Holoprosen... OMIM:615948
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Depressed nasal bridge, Ventriculomegaly, Hypoplasia of the zygomatic bone, Retrognathia, Supernu... ORPHA:1812
Gorlin-Chaudhry-Moss Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the nasal bone, Um... ORPHA:2095
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Hypoplasia of the pons, Lateral ventricle dilatation, Agenesis of corpus callosum, Microcephaly, ... OMIM:618736
Fetal Akinesia Deformation Sequence 2
Wide nasal bridge, Micrognathia, Tented upper lip vermilion, Cryptorchidism, High palate, Cleft p... OMIM:618388
Nance-Horan Syndrome
Diastema, Supernumerary maxillary incisor, Prominent nose, Prominent nasal bridge, Mulberry molar... OMIM:302350
Baraitser-Winter Syndrome 1
Wide nasal bridge, Ventriculomegaly, Retrognathia, Long philtrum, Cleft upper lip, Anteverted nar... OMIM:243310
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Wide nasal bridge, Broad nasal tip, Lateral ventricle dilatation, Tented upper lip vermilion, Thi... OMIM:615716
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the dentition, Ventriculomegaly, Carious teeth, Dental malocclusion, Velopharyngea... ORPHA:363444
Cleft Velum
Hypoplasia of the maxilla, Cleft soft palate, Velopharyngeal insufficiency ORPHA:99772
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal corpus callosum morphology, Cerebral atrophy, Periventricular cysts, Abnormal basal gang... ORPHA:255182
2Q24 Microdeletion Syndrome
Short philtrum, Abnormal oral frenulum morphology, Coloboma, Cleft palate ORPHA:1617
Endocrine-Cerebroosteodysplasia
Wide nasal bridge, Ventriculomegaly, Natal tooth, Thick upper lip vermilion, Depressed nasal tip,... OMIM:612651
Joubert Syndrome 23
Dysplastic corpus callosum, Coloboma OMIM:616490
Crouzon Syndrome
Hypoplasia of the maxilla, Dental crowding, Deviated nasal septum, Hydrocephalus, High palate, Ma... OMIM:123500
Coffin-Siris Syndrome 6
High, narrow palate, Depressed nasal bridge, Broad nasal tip, Retrognathia, Micrognathia, Deep ph... OMIM:617808
Dysostosis, Stanescu Type
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of the zygomat... ORPHA:1798
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Retrognathia, Long philtrum, Anteverted nares, Microcephaly, High palate OMIM:619026
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Chorioretinal coloboma, Agenesis of corpus callosum, Microcephaly, Colpocephaly, M... OMIM:615219
Rapp-Hodgkin Syndrome
Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Depressed nasal bridge, Velopharyngeal ins... OMIM:129400
Pseudotrisomy 13 Syndrome
Cleft upper lip, Polymicrogyria, Median cleft palate, Encephalocele, Agenesis of corpus callosum,... OMIM:264480
Odontochondrodysplasia
Depressed nasal bridge, Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia, Short... ORPHA:166272
Sandestig-Stefanova Syndrome
Wide nasal bridge, Ventriculomegaly, Retrognathia, Orofacial cleft, Primary microcephaly, Convex ... OMIM:618804
6Q25 Microdeletion Syndrome
Wide nasal bridge, Ventriculomegaly, Long philtrum, Micrognathia, Malar flattening, Agenesis of c... ORPHA:251056
Abruzzo-Erickson Syndrome
Chorioretinal coloboma, Malar flattening, Abnormal palate morphology, Coloboma, Iris coloboma, Cl... ORPHA:921
Dentin Dysplasia, Type I
Periapical bone loss, Microdontia, Taurodontia, Oligodontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Optic atrophy, Cleft soft palate, Death in infancy, Agenesis of cor... ORPHA:99742
Nager Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Micrognathia, Abnormal palate morpho... ORPHA:245
Pontocerebellar Hypoplasia, Type 11
Hypoplasia of the pons, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebella... OMIM:617695
Holoprosencephaly
Encephalocele, Cryptorchidism, Dandy-Walker malformation, Holoprosencephaly, Choanal atresia, Dep... ORPHA:2162
Frontorhiny
Cranium bifidum occultum, Hypoplasia of the maxilla, Hypopituitarism, Hypoplastic frontal sinuses... ORPHA:391474
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Conical incisor, Carious teeth, Enamel hypoplasia, Convex nasal ridge OMIM:614564
Holoprosencephaly 14
Alobar holoprosencephaly, Cleft lip, Cyclopia, Absent septum pellucidum, Median cleft upper lip, ... OMIM:619895
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Split Lower Lip
Abnormality of the dentition, Narrow maxilla, Abnormal lower lip morphology, Lower lip pit OMIM:183400
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Agenesis of corpus callosum, Tracheoesophageal fistula, Esophageal atresia, Hydrocephalus, Holopr... ORPHA:77298
Adams-Oliver Syndrome 2
Depressed nasal bridge, Lateral ventricle dilatation, Bulbous nose, Micrognathia, Microcephaly, H... OMIM:614219
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Ventriculomegaly, Malar flattening, Agenesis of corpus callosum, Hydro... OMIM:109120
Acrofacial Dysostosis, Catania Type
Carious teeth, Prominent nose, Micrognathia, Malar flattening, Cryptorchidism, Microcephaly, Spin... OMIM:101805
Temtamy Preaxial Brachydactyly Syndrome
Optic atrophy, Diastema, Microdontia, Deep philtrum, Talon cusp, Cleft palate OMIM:605282
Temple Syndrome
Precocious puberty, Bifid uvula, Depressed nasal bridge, Maturity-onset diabetes of the young, Re... OMIM:616222
Chromosome 13Q14 Deletion Syndrome
Chorioretinal coloboma, Micrognathia, Absent septum pellucidum, Hypoplasia of the corpus callosum... OMIM:613884
Distal 17P13.1 Microdeletion Syndrome
Hypoplasia of the zygomatic bone, Retrognathia, Prominent nasal bridge, Increased overbite, Micro... ORPHA:319171
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Abnormal lateral ventricle morphology, Wide nose ORPHA:488635
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Carious teeth, Delayed eruption of teeth, Long philtrum, Prominent nas... ORPHA:50814
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Congenital Disorder Of Glycosylation, Type 2V
Wide nasal bridge, Retrognathia, Underdeveloped nasal alae, Bulbous nose, Thin upper lip vermilio... OMIM:619493
Aarskog-Scott Syndrome
Wide nasal bridge, Hypoplasia of the maxilla, Elevated circulating luteinizing hormone level, Cle... OMIM:305400
Bangstad Syndrome
Retrognathia, Insulin-resistant diabetes mellitus, Goiter, Convex nasal ridge, Primary gonadal in... OMIM:210740
Microcephaly-Capillary Malformation Syndrome
Hypoplasia of the maxilla, Progressive microcephaly, Short nose, Cleft palate, Wide nose OMIM:614261
Autosomal Recessive Spastic Paraplegia Type 11
Cerebral cortical atrophy, Hypothalamic atrophy, Lateral ventricle dilatation, Abnormal substanti... ORPHA:2822
Cog7-Cdg
Retrognathia, Micrognathia, Narrow mouth, Progressive microcephaly, Primary microcephaly ORPHA:79333
Marshall Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Abnormality of the dentitio... ORPHA:560
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Aicardi Syndrome
Precocious puberty, Ventriculomegaly, Cleft upper lip, Partial agenesis of the corpus callosum, I... ORPHA:50
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Wide nasal bridge, Retrognathia, Micrognathia, Malar flattening, Cryptorchidism, Microcephaly, Hi... ORPHA:98791
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Flared nostrils, Retrognathia, Long philtrum, Decreased response to growth hormone stimulation te... ORPHA:280679
Isotretinoin Syndrome
Depressed nasal bridge, Micrognathia, Spina bifida occulta, Biparietal narrowing, Cleft palate ORPHA:2305
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Hypoplasia of the maxilla, Elevated circulating luteinizing hormone level, Type I diabetes mellit... ORPHA:3044
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Depressed nasal bridge, Retrognathia, Micrognathia, Agenesis of corpus callosum, Microcephaly, Hi... OMIM:618142
Robin Sequence-Oligodactyly Syndrome
Abnormality of the dentition, Micrognathia, Cleft palate, Glossoptosis ORPHA:3104
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... ORPHA:3286
Stromme Syndrome
Cerebellar vermis hypoplasia, Retinal vascular tortuosity, Intestinal malrotation, Wide mouth, Ag... OMIM:243605
Combined Oxidative Phosphorylation Deficiency 50
Microcephaly, Partial agenesis of the corpus callosum OMIM:619025
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Microcephaly, Partial agenesis of the corpus callosum, Optic atrophy, High palate OMIM:245349
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Type I diabetes mellitus, Abnormal oral glucose tolerance, Hypertrophic cardiomyopathy, Hyperinsu... ORPHA:276580
Myopathy, Centronuclear, 5
Bifid uvula, Retrognathia, Micrognathia, Narrow mouth, High palate OMIM:615959
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Tooth malposition, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, ... OMIM:618603
2Q32Q33 Microdeletion Syndrome
Dental crowding, Long philtrum, Decreased testicular size, Anteverted nares, Micrognathia, Promin... ORPHA:251019
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Death in infancy, Hydrocephalus, Cleft palate OMIM:258320
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Retrognathia, Micrognathia, Prominent nasal bridge, Dysplastic corpus callosum, Microcephaly, Wid... OMIM:604273
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Orbital encephalocele, Cleft pala... OMIM:164180
Dworschak-Punetha Neurodevelopmental Syndrome
Optic disc hypoplasia, Microdontia, Dysplastic corpus callosum, Microcephaly, Colpocephaly, Agene... OMIM:619955
Crisponi/Cold-Induced Sweating Syndrome 1
Depressed nasal bridge, Carious teeth, Retrognathia, Long philtrum, Anteverted nares, Micrognathi... OMIM:272430
Lethal Congenital Contracture Syndrome 11
Microretrognathia, Retrognathia OMIM:617194
Mitochondrial Complex I Deficiency, Nuclear Type 16
Optic atrophy, Caudate atrophy, Agenesis of corpus callosum OMIM:618238
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Wide nasal bridge, Depressed nasal bridge, Cleft lip, Retrognathia, Supernumerary nipple, Bulbous... OMIM:620098
X-Linked Intellectual Disability Due To Gria3 Mutations
Macrodontia of permanent maxillary central incisor, Macrocephaly, Thick vermilion border, Open mo... ORPHA:364028
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Microglossia, Underdeveloped nasal alae, Cleft mandible, Bulbous nose, Sho... ORPHA:364577
Basilicata-Akhtar Syndrome
Precocious puberty, Ventriculomegaly, Retrognathia, Downturned corners of mouth, Anteverted nares... OMIM:301032
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Optic atrophy, Partial agenesis of the corpus callosum, Tented upper lip vermilion, Alveolar ridg... OMIM:618346
Mucolipidosis Iv
Optic atrophy, Retinal degeneration, Dysplastic corpus callosum, Microcephaly, Cerebral dysmyelin... OMIM:252650
Glycine Encephalopathy 1
Death in infancy, Agenesis of corpus callosum OMIM:605899
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia OMIM:232700
Apert Syndrome
Bifid uvula, Hypoplasia of the maxilla, Choanal atresia, Depressed nasal bridge, Delayed eruption... ORPHA:87
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Long philtrum, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Hydrocephalus, Bro... OMIM:618577
Hyperinsulinism Due To Ucp2 Deficiency
Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Hypoketotic hypoglycemia, Palpitations, Reac... ORPHA:276556
Ring Chromosome 7 Syndrome
Wide nasal bridge, Bifid uvula, Ventriculomegaly, Narrow naris, Prominent crus of helix, Hypogona... ORPHA:1449
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, Cholelithiasis, Diastema... OMIM:300534
Premature Aging Syndrome, Penttinen Type
Hypoplasia of the maxilla, Delayed eruption of teeth, Retrognathia, Elevated circulating thyroid-... OMIM:601812
Auriculocondylar Syndrome 3
Bifid uvula, Micrognathia, Retrognathia, Glossoptosis OMIM:615706
Trisomy 18