Gene Summary

sperm antigen with calponin homology and coiled-coil domains 1-like
9530057A13Rik,  4932439K10Rik,  Specc1l,  4930470P14Rik,  Cytsa

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
hyperactivity Specc1lem1(IMPC)J HOM Early adult 2.33×10-09
decreased circulating calcium level Specc1lem1(IMPC)J HOM Early adult 3.05×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.


XRay Images Skull Lateral Orientation

9 Images


XRay Images Forepaw

9 Images


XRay Images Skull Dorso Ventral Orientation

9 Images

Electroretinography 3

Fundus file

5 Images


XRay Images Whole Body Lateral Orientation

9 Images


XRay Images Whole Body Dorso Ventral

9 Images

Eye Morphology

Images Slit Lamp

2 Images

Electrocardiogram (ECG)

Waveform Image

15 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Specc1l 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 Specc1l by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Specc1l by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bifid uvula, Cleft palate, Omphalocele OMIM:258320
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia, Abnormal blood phosphate concentration OMIM:615361
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Gilles De La Tourette Syndrome
Compulsive behaviors, Phonic tics, Motor tics, Attention deficit hyperactivity disorder, Self-mut... OMIM:137580
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Cleft palate OMIM:119550
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Anterior encephalocele, Bilateral cleft palate, Coloboma, Omphalocele, Cleft upper... OMIM:601357
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Hydrocephalus, Spina bifida, Omphalocele, Cleft palate, Holoprosencephaly ORPHA:945
Facial Clefting, Oblique, 1
Cleft upper lip, Tessier number 4 facial cleft, Cleft palate, Coloboma OMIM:600251
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Schisis Association
Congenital diaphragmatic hernia, Anencephaly, Encephalocele, Anal atresia, Spina bifida, Omphaloc... ORPHA:63862
Omphalocele ORPHA:660
Fetal Valproate Spectrum Disorder
Thin vermilion border, Narrow mouth, Omphalocele, Downturned corners of mouth, Long philtrum ORPHA:1906
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Neural tube defect OMIM:615041
Omphalocele, X-Linked
Omphalocele OMIM:310980
Omphalocele, Autosomal
Omphalocele OMIM:164750
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
2q33.1 deletion syndrome
Cleft palate, High palate, Inguinal hernia DECIPHER:51
Uvula, Bifid
Bifid uvula OMIM:192100
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Otodental Dysplasia
Agenesis of premolar, Delayed eruption of teeth, Coloboma, Enamel hypoplasia, Long philtrum, Toot... OMIM:166750
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Hydrocephalus, Omphalocele, Bifid uvula, Cleft palate, Unilateral cleft lip ORPHA:2736
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Hypercalcemia ORPHA:55881
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Microphthalmia/Coloboma 4
Coloboma OMIM:251505
Abruzzo-Erickson Syndrome
Coloboma, Cleft palate OMIM:302905
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Congenital diaphragmatic hernia, Sirenomelia, Anencephaly, Myelomeningocele, Omphalocele, Anal at... ORPHA:63260
Meckel Syndrome, Type 2
Anencephaly, Encephalocele, Meningocele, Omphalocele, Intestinal malrotation, Cleft palate OMIM:603194
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Non-midline cleft of the upper lip, Ectopic anus, Spina bifida, Cleft palate, Gastro... ORPHA:2476
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia OMIM:620152
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Coloboma, Orofacial cleft ORPHA:324416
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Meningocele, Hydrocephalus, Non-midline cleft of the upper lip, Narrow mouth, Omphalocele, Intest... ORPHA:3376
Non-Syndromic Metopic Craniosynostosis
Omphalocele ORPHA:3366
Caudal Duplication
Intestinal duplication, Spina bifida, Myelomeningocele, Omphalocele ORPHA:1756
Coloboma Of Macula With Type B Brachydactyly
Coloboma OMIM:120400
Hypothyroidism, Congenital, Nongoitrous, 4
Umbilical hernia, Macroglossia, Omphalocele OMIM:275100
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Microphthalmia/Coloboma 6
Coloboma OMIM:613703
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Cleft Soft Palate
Cleft soft palate OMIM:119570
Splenogonadal Fusion With Limb Defects And Micrognathia
Stillbirth, Crowded maxillary incisors, Multiple unerupted teeth OMIM:183300
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Stillbirth OMIM:265880
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
2Q24 Microdeletion Syndrome
Short philtrum, Coloboma, Abnormal oral frenulum morphology, Camptodactyly of finger, Cleft palate ORPHA:1617
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Ventral hernia, Anencephaly, Hydrocephalus, Omphalocele, Cleft u... OMIM:313850
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Pseudodiastrophic Dysplasia
Omphalocele ORPHA:85174
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Thin vermilion border, Inguinal hernia OMIM:180360
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Dysphagia, Impulsivity OMIM:620448
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Microphthalmia, Isolated 4
Coloboma OMIM:613094
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Cleft palate, Chorioretinal coloboma, Iris coloboma OMIM:120433
Craniofacial Microsomia 2
Submucous cleft palate, Bifid uvula, Dermal sinus tract OMIM:620444
Miller-Dieker Syndrome
Abnormal upper lip morphology, Omphalocele ORPHA:531
Trigonocephaly 1
Meckel diverticulum, Long philtrum, High, narrow palate, Omphalocele OMIM:190440
Distal Duplication 15Q
High palate, Anal atresia, Omphalocele, Camptodactyly of finger, Downturned corners of mouth, Lon... ORPHA:1707
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Frontonasal Dysplasia 1
Widely-spaced maxillary central incisors, Frontal cutaneous lipoma, Coloboma, Anterior basal ence... OMIM:136760
Bifid Uvula
Cleft lip, Bifid uvula, Submucous cleft soft palate ORPHA:99771
Hernia, Double Inguinal
Inguinal hernia OMIM:142350
Joubert Syndrome 15
Coloboma, Exencephaly OMIM:614464
Isolated Anencephaly
Congenital diaphragmatic hernia, Cleft lip, Omphalocele ORPHA:563609
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia ORPHA:2016
Constricting Bands, Congenital
Tessier cleft, Encephalocele, Omphalocele, Cleft upper lip, Cleft palate, Bladder exstrophy, Gast... OMIM:217100
Cleft Palate, Isolated
Anterior open-bite malocclusion, Gingival overgrowth, Cleft palate, Increased overbite OMIM:119540
Fryns Microphthalmia Syndrome
Tessier cleft, Bilateral cleft palate, Neural tube defect, Bilateral cleft lip OMIM:600776
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Anencephaly 2
Cleft maxillary alveolar ridge, Anencephaly, Median cleft palate, Median cleft upper lip OMIM:619452
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Omphalocele, Intestinal malrotation, Umbilical hernia, Iris colo... ORPHA:2143
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Colonic Atresia
Peptic ulcer, Omphalocele, Duodenal stenosis, Colonic atresia, Gastroschisis ORPHA:1198
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Omphalocele OMIM:613630
Pentalogy Of Cantrell
Congenital diaphragmatic hernia, Orofacial cleft, Anencephaly, Encephalocele, Hydrocephalus, Non-... ORPHA:1335
Congenital diaphragmatic hernia, Orofacial cleft, Anencephaly, Encephalocele, Hydrocephalus, Narr... ORPHA:63259
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Macroglossia, Delayed eruption of teeth OMIM:614450
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia OMIM:179800
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypercholesterolemia, Hypocalcemia OMIM:612526
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation OMIM:619970
Intellectual Developmental Disorder, Autosomal Recessive 67
Coloboma OMIM:618295
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Cleft palate, Ankyloglossia OMIM:303400
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia OMIM:618618
Hyperprolinemia, Type I
Hyperactivity, Hyperprolinemia, Motor stereotypy, Aggressive behavior OMIM:239500
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia, Esophageal atresia, Anal atresia, Omphalocele, Cleft palate ORPHA:95706
Isolated Hemihyperplasia
Myelomeningocele, Abnormality of the dentition, Inguinal hernia ORPHA:2128
Abruzzo-Erickson Syndrome
Abnormal palate morphology, Coloboma, Cleft palate, Chorioretinal coloboma, Iris coloboma ORPHA:921
Van Der Woude Syndrome 1
Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit OMIM:119300
Glycine Encephalopathy 1
Hyperactivity, Impulsivity, Restlessness, Hyperglycinemia, Aggressive behavior OMIM:605899
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Omphalocele ORPHA:2141
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Non-midline cleft of the upper lip, Cleft palate, Anencephaly ORPHA:1681
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Hydrocephalus, Anal atresia, Omphalocele, Camptodactyly of toe, Umbilical hernia... OMIM:175700
Robinow Syndrome, Autosomal Recessive 2
Ventral hernia, Cleft soft palate, Triangular mouth, Gingival overgrowth, Abnormality of the dent... OMIM:618529
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93324
Pai Syndrome
Encephalocele, Abnormal oral frenulum morphology, Midline central nervous system lipomas, Bifid u... ORPHA:1993
Biemond Syndrome Type 2
Hydrocephalus, Coloboma ORPHA:141333
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Downturned corners of mouth, Short philtrum, Omphalocele ORPHA:93267
Joubert Syndrome 16
Coloboma, Encephalocele OMIM:614465
Isolated Dandy-Walker Malformation
Cleft palate, Encephalocele ORPHA:217
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele OMIM:601163
Cleft Palate, Deafness, And Oligodontia
Agenesis of permanent teeth, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
15Q24 Microdeletion Syndrome
Congenital diaphragmatic hernia, Abnormal palate morphology, Thick lower lip vermilion, Coloboma,... ORPHA:94065
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Autoimmune Hypoparathyroidism
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:36913
Pseudotrisomy 13 Syndrome
Cyclopia, Encephalocele, Hydrocephalus, Anal atresia, Omphalocele, Median cleft palate, Cleft upp... OMIM:264480
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Iris coloboma OMIM:610023
Holoprosencephaly-Postaxial Polydactyly Syndrome
Orofacial cleft, Cyclopia, Encephalocele, Hydrocephalus, Narrow mouth, Anal atresia, Omphalocele,... ORPHA:2166
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:617113
Bladder Exstrophy
Bladder exstrophy, Inguinal hernia, Abnormality of the anus, Omphalocele, Intestinal malrotation,... ORPHA:93930
Parietal Foramina 1
Cleft upper lip, Cleft palate, Encephalocele OMIM:168500
Catifa Syndrome
Inguinal hernia, Delayed eruption of teeth, Tooth malposition, Increased overbite, Camptodactyly,... OMIM:618761
Holoprosencephaly 7
Semilobar holoprosencephaly, Solitary median maxillary central incisor, Alobar holoprosencephaly,... OMIM:610828
Trisomy 18
Congenital diaphragmatic hernia, Narrow palate, Cyclopia, Anencephaly, Esophageal atresia, Non-mi... ORPHA:3380
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Anorexia, Hypomagnesemia, Hypokalemia OMIM:175500
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Prune belly, Anal atresia, Omphalocele OMIM:601389
Baraitser-Winter Syndrome 2
Orofacial cleft, Coloboma, Wide mouth, Long philtrum, Thin upper lip vermilion OMIM:614583
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Inguinal hernia, Camptodactyly, Spina bifida, Long philtrum, Joint contracture of the hand OMIM:211960
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Polyphagia OMIM:606407
Solitary Median Maxillary Central Incisor
Cyclopia, Solitary median maxillary central incisor, Coloboma, Prominent median palatal raphe, Cl... OMIM:147250
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Large placenta, Inguinal hernia, Exaggerated cupid's bow, Diastasis recti, Wrist flexion contract... ORPHA:254528
Vacterl/Vater Association
Congenital diaphragmatic hernia, Occipital encephalocele, Anencephaly, Non-midline cleft of the u... ORPHA:887
Glycosylphosphatidylinositol Biosynthesis Defect 11
Inguinal hernia, High palate, Tented upper lip vermilion, Umbilical hernia, Macroglossia OMIM:616025
Boomerang Dysplasia
Aplasia/Hypoplasia of the abdominal wall musculature, Omphalocele ORPHA:1263
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior OMIM:301107
Anophthalmia Plus Syndrome
Tessier cleft, Bilateral cleft palate, Non-midline cleft of the upper lip, Spina bifida, Cleft pa... ORPHA:1104
Trisomy 1Q
Congenital diaphragmatic hernia, Hydrocephalus, Narrow mouth, Anal atresia, Omphalocele, Camptoda... ORPHA:261344
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft upper lip, Cleft palate, Atrophic gastritis, Stomach cancer OMIM:137215
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Iris coloboma, Abnormal adipose tissue morphology, Inguinal hern... ORPHA:2092
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Short philtrum, Exaggerated cupid's bow, Omphalocele, Intestinal malrotation, Smooth philtrum, Lo... OMIM:618316
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94089
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics OMIM:619927
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma OMIM:274270
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Chromosome 9P Deletion Syndrome
Narrow palate, Thin vermilion border, High, narrow palate, Inguinal hernia, High palate, Narrow m... OMIM:158170
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Umbilical hernia, Large placenta, Diastasis recti, Omphalocele ORPHA:254534
Coloboma Of Macula And Skeletal Anomalies
Macular coloboma, Contracture of the distal interphalangeal joint of the 5th finger, Cleft palate OMIM:216800
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit OMIM:606713
Coach Syndrome 2
Hydrocephalus, Coloboma, Chorioretinal coloboma OMIM:619111
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia ORPHA:398063
Pseudohypoparathyroidism, Type Ic
Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Fryns Syndrome
Congenital diaphragmatic hernia, Aganglionic megacolon, Non-midline cleft of the upper lip, Ectop... ORPHA:2059
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intestinal malrotation, Aqueductal stenosis, Omphalocele ORPHA:3035
Joubert Syndrome 14
Short philtrum, Encephalocele, Hydrocephalus, Meningocele, Coloboma, Cleft palate, Tented upper l... OMIM:614424
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Branchio-Oculo-Facial Syndrome
Orofacial cleft, Non-midline cleft of the upper lip, Coloboma, High palate, Everted lower lip ver... ORPHA:1297
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Hydrocephalus, Gingival overgrowth, Abnormal intestine morpholog... ORPHA:1834
Gillessen-Kaesbach-Nishimura Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Smooth philtrum, Omphalocele OMIM:263210
Otopalatodigital Syndrome Type 2
Encephalocele, Hydrocephalus, Oligodontia, Glossoptosis, Narrow mouth, Myelomeningocele, Omphaloc... ORPHA:90652
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Inguinal hernia, Coloboma, Downturned corners of mouth, Wide mouth, Smooth philtrum, Umbilical he... ORPHA:329224
Cloacal Exstrophy
Intestinal duplication, Myelomeningocele, Spina bifida, Omphalocele, Intestinal malrotation, Anal... ORPHA:93929
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Cleft palate, High palate, Inguinal hernia, Tooth agenesis ORPHA:1135
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Cleft Lip/Palate
Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-... ORPHA:199306
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Chorioretinal coloboma, Inguinal hernia, Umbilical hernia ORPHA:2196
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip... ORPHA:888
Acropectorovertebral Dysplasia
Camptodactyly of finger, High, narrow palate, Cleft palate, Spina bifida ORPHA:957
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Carpenter Syndrome 1
Spina bifida occulta, High palate, Camptodactyly, Omphalocele, Persistence of primary teeth, Umbi... OMIM:201000
Auriculocondylar Syndrome 2B
Mandibular condyle hypoplasia, Narrow mouth, Omphalocele OMIM:620458
Congenital diaphragmatic hernia, Cyclopia, Solitary median maxillary central incisor, Intestinal ... ORPHA:2162
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Omphalocele, Intestinal malrotation, Umbilical hernia, Iris colo... OMIM:222448
Acrocallosal Syndrome
Everted upper lip vermilion, Abnormal oral frenulum morphology, Bifid uvula, Wide mouth, Umbilica... OMIM:200990
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Anal atresia, Omphalocele, Incomplete cleft of the upper lip, Cleft palate, Lobula... OMIM:616300
Osteopathia Striata With Cranial Sclerosis
Anal stenosis, Flexion contracture of toe, Thick lower lip vermilion, Spina bifida occulta, Hydro... OMIM:300373
Verheij Syndrome
Coloboma, Cleft palate, Long philtrum, Branchial cyst, Thin upper lip vermilion OMIM:615583
Neural Tube Defects, Susceptibility To
Anencephaly, Spina bifida occulta, Lipoma, Hydrocephalus, Myelomeningocele, Multiple lipomas OMIM:182940
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Cleft palate, Natal tooth, Arthrogryposis multiplex congenita OMIM:217150
Hyperactivity, Hyperphenylalaninemia, Compulsive behaviors, Attention deficit hyperactivity disor... OMIM:261600
Hyperactivity, Hyperhistidinemia ORPHA:2157
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Short-Rib Thoracic Dysplasia 12
Anencephaly, Inguinal hernia, Hydrocephalus, Median cleft palate, Omphalocele, Intestinal malrota... OMIM:269860
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Coloboma, Cleft palate, Anal atresia OMIM:220210
Genetic Recurrent Myoglobinuria
Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia ORPHA:99845
Joubert Syndrome 23
Coloboma OMIM:616490
Colchicine Poisoning
Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Non-midline cleft of the upper lip, Cleft palate, Arthrogryposis multiplex congenita ORPHA:1484
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:2521
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia, Inguinal hernia, Short philtrum, Omphalocele, Cleft palate, Wide... OMIM:618454
Developmental And Epileptic Encephalopathy 89
Omphalocele, Neonatal death, Cleft palate, Flexion contracture, Smooth philtrum, Long philtrum, T... OMIM:619124
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Hypomagnesemia, Self-biting, Hypokalemia OMIM:618314
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Hydrolethalus Syndrome 2
Hydrocephalus, Cleft palate, Anencephaly OMIM:614120
Cleft palate, Myelomeningocele ORPHA:66637
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Sel... OMIM:619827
Kagami-Ogata Syndrome
Inguinal hernia, Diastasis recti, Omphalocele, Flexion contracture, Long philtrum OMIM:608149
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Coloboma, Everted lower lip vermilion, Wide mouth, Open mouth, Macroglossia OMIM:616789
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior ORPHA:101039
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ... ORPHA:2919
Stevenson-Carey Syndrome
Coloboma, Narrow mouth, Camptodactyly, Downturned corners of mouth, Pierre-Robin sequence, Joint ... OMIM:611961
Teebi Hypertelorism Syndrome 1
Dental crowding, Omphalocele, Natal tooth, Long philtrum, Thin upper lip vermilion OMIM:145420
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Thin upper lip vermilion, Omphalocele OMIM:601927
Timothy Syndrome
Hypocalcemia OMIM:601005
Otopalatodigital Syndrome, Type I
Selective tooth agenesis, Narrow mouth, Omphalocele, Cleft palate, Multiple impacted teeth OMIM:311300
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
3Mc Syndrome 1
Spina bifida occulta, Dental crowding, Diastasis recti, Omphalocele, Cleft upper lip, Cleft palat... OMIM:257920
Fibrochondrogenesis 1
Stillbirth, Narrow mouth, Camptodactyly, Omphalocele, Cleft palate, Long philtrum, Joint contract... OMIM:228520
Lethal Congenital Contracture Syndrome 10
Narrow palate, High palate, Omphalocele, Long philtrum, Macroglossia OMIM:617022
Miller-Dieker Lissencephaly Syndrome
Inguinal hernia, Duodenal atresia, Delayed eruption of teeth, Camptodactyly, Omphalocele, Thick u... OMIM:247200
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Intestinal obstruction, Omphalocele, Intestinal malrotation, Enamel hypoplasia, En... OMIM:243150
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Long philtrum, Omphalocele OMIM:617895
Blepharocheilodontic Syndrome 1
Neural tube defect, Conical tooth, Anal atresia, Cleft upper lip, Hypodontia OMIM:119580
Neuroleptic Malignant Syndrome
Hyperkalemia, Agitation, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concen... ORPHA:94093
Meckel Syndrome, Type 5
Occipital encephalocele, Cleft palate, Anencephaly, Cleft upper lip OMIM:611561
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Marcus-Gunn Syndrome
Cleft lip, Cleft palate, Coloboma ORPHA:91412
Mosaic Trisomy 1
Congenital diaphragmatic hernia, Orofacial cleft, Thick lower lip vermilion, Elbow flexion contra... ORPHA:1692
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Orofacial cleft, Cyclopia, Omphalocele, Holoprosencephaly, Median cleft upper lip, Iris coloboma ORPHA:3186
Robinow Syndrome, Autosomal Dominant 3
Triangular mouth, Dental malocclusion, Gingival overgrowth, Camptodactyly, Omphalocele, Downturne... OMIM:616894
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Chromosome 10Q26 Deletion Syndrome
High palate, Omphalocele, Smooth philtrum, Long philtrum, Thin upper lip vermilion OMIM:609625
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Hypodontia, Ectopic anus, High palate, Tracheoe... ORPHA:2745
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoalbuminemia, Hypoproteinemia, Hypomagnesemia ORPHA:90362
Coffin-Siris Syndrome 11
Esophageal atresia, Cleft soft palate, High palate, Downturned corners of mouth, Bifid uvula, Wid... OMIM:618779
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Coloboma, Exaggerated cupid's bow, Narrow mouth, Wide mouth, Smooth philtrum, Long philtrum OMIM:618659
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Camptodactyly of finger, Cleft palate, Narrow mouth, Omphalocele ORPHA:2021
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
C Syndrome
Thick anterior alveolar ridges, High palate, Omphalocele, Wide mouth, Accessory oral frenulum OMIM:211750
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence OMIM:192445
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Inappropriate laughter OMIM:618476
Neurooculocardiogenitourinary Syndrome
Downturned corners of mouth, Smooth philtrum, Coloboma OMIM:618652
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Cleft palate, Hydranencephaly OMIM:601355
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Juvenile Nephropathic Cystinosis
Polydipsia, Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic... ORPHA:411634
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Coloboma OMIM:613153
Pontocerebellar Hypoplasia, Type 11
Coloboma, Anal atresia OMIM:617695
Holoprosencephaly 11
Cleft lip, Cleft palate, Holoprosencephaly OMIM:614226
Generalized Pustular Psoriasis
Hypocalcemia, Hyponatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia OMIM:618440
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Long philtrum, Thin vermilion border, Gingival overgrowth, Coloboma ORPHA:464288
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Occipital encephalocele, Coloboma, Macroglossia ORPHA:370959
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Oculogastrointestinal Neurodevelopmental Syndrome
Coloboma, Anal atresia OMIM:619318
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Enlarged Parietal Foramina
Occipital encephalocele, Cleft lip, Cleft palate, Myelomeningocele ORPHA:60015
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concentration, Hyperammonemia... ORPHA:26793
Abnormal blood ion concentration, Hyponatremia, Hypokalemia, Hypocalcemia ORPHA:173
Neural tube defect, High palate, Abnormal uvula morphology, Lipodystrophy, Arthrogryposis multipl... ORPHA:79321
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior OMIM:615516
Holoprosencephaly-Caudal Dysgenesis Syndrome
Cyclopia, Cleft palate, Holoprosencephaly, Median cleft upper lip ORPHA:2165
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Anencephaly, Hydrocephalus, Anal atresia, Omphalocele, I... OMIM:249000
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Polyphagia, Hypocalcemic tetany, Hyperphosphatemia ORPHA:79444
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Coach Syndrome 1
Occipital encephalocele, Encephalocele, Coloboma, Esophageal varix, Wide mouth OMIM:216360
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Unilateral Ocular Duplication
Encephalocele, Midline facial cleft, Cleft palate, Median cleft upper lip, Iris coloboma ORPHA:3374
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Umbilical hernia, Intestinal malrotation, Microcolon, Omphalocele ORPHA:2241
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Non-midline cleft of the upper lip, Cleft palate, Lip pit ORPHA:1072
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Hypokalemia, Hypocalcemia, Hyponatremia, Dysphagia OMIM:617913
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Aniridia, Myelomeningocele, Intestinal malrotation, Umbilical he... OMIM:305600
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Melnick-Needles Syndrome
Omphalocele, Delayed eruption of teeth, Tooth malposition ORPHA:2484
Esophageal Atresia
Coloboma, Barrett esophagus, Esophagitis, Tracheoesophageal fistula, Omphalocele, Intestinal malr... ORPHA:1199
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac... OMIM:620141
Joubert Syndrome 22
Coloboma OMIM:615665
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia ORPHA:289157
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Familial Multiple Lipomatosis
Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw, Coloboma, Increased ad... ORPHA:199276
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Short philtrum, Dental crowding, Coloboma, High palate, Abnormality of the dentition, Microdontia... ORPHA:251028
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Kagami-Ogata Syndrome
Large placenta, Inguinal hernia, Diastasis recti, Omphalocele, Broad philtrum, Pursed lips ORPHA:254519
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele, Iris coloboma ORPHA:371428
Cree Mental Retardation Syndrome
Coloboma, Cleft soft palate OMIM:606851
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Trisomy 8Q
Orofacial cleft, Non-midline cleft of the upper lip, High palate, Everted lower lip vermilion, My... ORPHA:1752
2Q31.1 Microdeletion Syndrome
Thin vermilion border, Inguinal hernia, Coloboma, Everted lower lip vermilion, Camptodactyly of f... ORPHA:251014
Aase-Smith Syndrome I
Hydrocephalus, Cleft palate, Flexion contracture, Open mouth OMIM:147800
Marshall-Smith Syndrome
Short mandibular rami, Short philtrum, Hydrocephalus, Gingival overgrowth, Glossoptosis, High pal... OMIM:602535
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Fryns Syndrome
Stillbirth, Joint contracture of the hand, Aganglionic megacolon, Esophageal atresia, Meckel dive... OMIM:229850
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Polydipsia, Hyperphosphatemia, Hypercalcemia OMIM:617994
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hyperphosphatemia, Hypomagnesemia ORPHA:428
Gingival cleft, Anencephaly, Hydrocephalus, Cleft palate, Bifid uvula, Unilateral cleft lip, Subm... ORPHA:2189
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Coloboma, Flexion contracture OMIM:615249
Oeis Complex
Rectovaginal fistula, Hydrocephalus, Myelomeningocele, Omphalocele, Intestinal malrotation, Anal ... OMIM:258040
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
D-Lactic Aciduria With Gout
Aniridia, Inguinal hernia OMIM:245450
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Polyphagia, Hypocalcemic tetany, Hyperphosphatemia ORPHA:79443
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany ORPHA:73224
Manitoba Oculotrichoanal Syndrome
Anal stenosis, Anteriorly placed anus, Omphalocele OMIM:248450
Meckel Syndrome, Type 4
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Cleft palate OMIM:611134
Pagod Syndrome
Congenital diaphragmatic hernia, Encephalocele, Meningocele, Spina bifida, Omphalocele ORPHA:991
Igg4-Related Thyroid Disease
Hypocalcemia, Dysphagia ORPHA:64744
Bosma Arhinia Microphthalmia Syndrome
Dental malocclusion, Inguinal hernia, Coloboma, High palate, Hypoplasia of teeth, Cleft palate, C... OMIM:603457
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Branchial anomaly, Oligodontia, Coloboma, High palate, Furrowed tongue, Downturned corners of mou... ORPHA:453499
Orofaciodigital Syndrome Xix
Narrow palate, Cleft soft palate, Midline notching of lower lip, High palate, Narrow mouth, Micro... OMIM:620107
Nasopalpebral Lipoma-Coloboma Syndrome
Coloboma, Lipomas of eyelids OMIM:167730
Bartsocas-Papas Syndrome 1
Tessier cleft, Anal stenosis, Inguinal hernia, Anal atresia, Omphalocele, Oral synechia, Cleft up... OMIM:263650
Myoectodermal Gonadal Dysgenesis Syndrome
Thin vermilion border, Hypodontia, Diastasis recti, Anal atresia, Omphalocele, Pyloric stenosis, ... OMIM:618419
Charge Syndrome
Aqueductal stenosis, Abnormal soft palate morphology, Delayed eruption of teeth, Coloboma, Narrow... ORPHA:138
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased circulating prealbumin concentration, Hypomagnesemia, Abnormal blood ion ... ORPHA:37042
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Hypoalbuminemia, Elevated circulating creatinine concentration, Elevated circulatin... ORPHA:36234
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia, Addictive alcohol use ORPHA:31826
Exstrophy-Epispadias Complex
Anal stenosis, Inguinal hernia, Hydrocephalus, Anal atresia, Omphalocele, Spina bifida, Bladder e... ORPHA:322
Hypercalcemia ORPHA:436
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Simpson-Golabi-Behmel Syndrome
Congenital diaphragmatic hernia, High, narrow palate, Inguinal hernia, Aplasia/Hypoplasia of the ... ORPHA:373
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele ORPHA:3329
Microphthalmia, Syndromic 5
Coloboma, Cleft palate OMIM:610125
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Hydrocephalus, Coloboma, Meningoencephalocele, Anal atresia, Congenital ... OMIM:236670
Kabuki Syndrome
Congenital diaphragmatic hernia, Orofacial cleft, Widely spaced teeth, Hydrocephalus, Coloboma, H... ORPHA:2322
Celiac Disease, Susceptibility To, 1
Hypocalcemia OMIM:212750
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Compulsive behaviors, Hypercalcemia, Motor stereotypy, Attention deficit hyperactivity disorder, ... ORPHA:476126
C Syndrome
Congenital diaphragmatic hernia, Thin vermilion border, Gingival overgrowth, Abnormality of the a... ORPHA:1308
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Velocardiofacial Syndrome
Hypocalcemia, Aggressive behavior OMIM:192430
Birk-Barel Syndrome
Short philtrum, High palate, Bifid uvula, Submucous cleft soft palate, Tented upper lip vermilion OMIM:612292
Meckel Syndrome, Type 3
Hydrocephalus, Occipital encephalocele, Cleft palate OMIM:607361
Omphalocele, Bifid uvula, Wide mouth, Lipodystrophy, Smooth philtrum, Long philtrum, Thin upper l... ORPHA:79328
Hypophosphatasia, Infantile
Anorexia, Hypercalcemia, Elevated plasma pyrophosphate OMIM:241500
Hypomagnesemia 3, Renal
Polydipsia, Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentratio... OMIM:248250
Hyperparathyroidism, Neonatal Severe
Polydipsia, Calcinosis, Hypercalcemia, Hypophosphatemia OMIM:239200
Fraser Syndrome
Orofacial cleft, Anal stenosis, Encephalocele, Dental crowding, Ectopic anus, High palate, Myelom... ORPHA:2052
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Cleft palate OMIM:243440
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia OMIM:259720
Coloboma ORPHA:324737
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Specc1L-Related Hypertelorism Syndrome
Orofacial cleft, Advanced eruption of teeth, Thin vermilion border, Everted lower lip vermilion, ... ORPHA:1519
Melnick-Needles Syndrome
Stillbirth, Delayed eruption of teeth, Tooth malposition, Omphalocele, Cleft palate OMIM:309350
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
High, narrow palate, Intestinal pseudo-obstruction, Branchial anomaly, Abnormality of primary tee... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
High, narrow palate, Intestinal pseudo-obstruction, Branchial anomaly, Abnormality of primary tee... ORPHA:352665
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Holoprosencephaly 3
Cyclopia, Solitary median maxillary central incisor, Bifid uvula, Holoprosencephaly, Cleft palate... OMIM:142945
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hair-pulling, Nail-biting, Hypocalcemia, Polyphagia, Fixated interests, Motor stereotypy, Attenti... OMIM:620330
Congenital Disorder Of Glycosylation, Type Iq
Coloboma OMIM:612379
Omphalocele Syndrome, Shprintzen-Goldberg Type
Downturned corners of mouth, Thin upper lip vermilion, Anal atresia, Omphalocele ORPHA:3164
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Long philtrum, Exencephaly, Encephalocele ORPHA:2211
Acrocephalopolydactylous Dysplasia
Hypoplasia of the small intestine, Hypoplastic colon, Omphalocele OMIM:200995
Ablepharon Macrostomia Syndrome
Thin vermilion border, Microdontia, Omphalocele, Camptodactyly of finger, Wide mouth, Umbilical h... ORPHA:920
Codas Syndrome
Rectovaginal fistula, Delayed eruption of teeth, Anal atresia, Omphalocele, Enamel hypoplasia OMIM:600373
Gitelman Syndrome
Polydipsia, Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Salt craving ORPHA:358
Pearson Syndrome
Hypokalemia, Hypocalcemia, Hyperalaninemia, Hypomagnesemia, Hypophosphatemia, Dysphagia ORPHA:699
Hydrolethalus Syndrome 1
Anencephaly, Omphalocele, Cleft palate, Severe hydrocephalus, Median cleft upper lip OMIM:236680
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Large placenta, Short philtrum, Diastasis recti, Narrow mouth, Camptodactyly, Omphalocele, Interp... ORPHA:96334
Heterotaxy, Visceral, 1, X-Linked
Aqueductal stenosis, Hydrocephalus, Posteriorly placed anus, Myelomeningocele, Omphalocele, Anal ... OMIM:306955
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
Autosomal Dominant Keratitis
Coloboma, Aniridia ORPHA:2334
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hypercalcemia, Hyperphosphatemia OMIM:211900
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Hypercalcemia, Polyphagia ORPHA:251004
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Esophageal atresia, Meckel diverticulum, Congenital shortened small intestine, Diastasis recti, T... OMIM:265380
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Chromosome 17Q12 Duplication Syndrome
Smooth philtrum, Esophageal atresia, Cleft soft palate OMIM:614526
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormality of dental color, Coloboma, Abnormal dental morphology OMIM:163200
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Limb Body Wall Complex
Congenital diaphragmatic hernia, Short umbilical cord, Ventral hernia, Anencephaly, Encephalocele... ORPHA:2369
Robinow Syndrome, Autosomal Dominant 2
Triangular mouth, Cleft soft palate, Dental crowding, Oligodontia, Gingival overgrowth, Abnormali... OMIM:616331
Genitourinary And/Or Brain Malformation Syndrome
Ileal atresia, Omphalocele, Holoprosencephaly, Long philtrum, Jejunal atresia OMIM:618820
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Large placenta, Inguinal hernia, Diastasis recti, Omphalocele, L... ORPHA:116
Oculopalatocerebral Syndrome
Cleft palate, Remnants of the hyaloid vascular system OMIM:257910
Phakomatosis Pigmentokeratotica
Coloboma, Spina bifida ORPHA:2874
Okamoto Syndrome
Anal stenosis, Open bite, Exaggerated median tongue furrow, Omphalocele, Intestinal malrotation, ... ORPHA:2729
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Combined Immunodeficiency-Enteropathy Spectrum
Rectal abscess, Omphalocele, Intestinal malrotation, Jejunoileal ulceration, Intestinal atresia ORPHA:436252
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Nasopalpebral Lipoma-Coloboma Syndrome
Coloboma, Multiple lipomas, Lipomas of eyelids ORPHA:2399
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia, Anencephaly, Hydrocephalus, Retinal coloboma, Cleft palate, Occi... OMIM:616546
Charge Syndrome
Anal stenosis, Iris coloboma, Esophageal atresia, Coloboma, Tracheoesophageal fistula, Omphalocel... OMIM:214800
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Hyponatremia, Hyperkalemia ORPHA:544482
Thauvin-Robinet-Faivre Syndrome
Inguinal hernia, Coloboma, Retinal coloboma, Thick vermilion border, Macroglossia OMIM:617107
Cerebrocostomandibular Syndrome
Hydranencephaly, Meningocele, Short hard palate, Glossoptosis, Myelomeningocele, Spina bifida, Cl... ORPHA:1393
Shprintzen Omphalocele Syndrome
Thin vermilion border, Anal atresia, Omphalocele OMIM:182210
Acute Adrenal Insufficiency
Hyperkalemia, Anorexia, Hyperuricemia, Increased circulating renin level, Hyponatremia, Hypercalc... ORPHA:95409
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Inguinal hernia, Tooth malposition, Bifid uvula, Cleft palate, Failure of eruption of permanent t... ORPHA:2250
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia ORPHA:466650
Microcephaly 30, Primary, Autosomal Recessive
Pierre-Robin sequence, Thin upper lip vermilion, Cleft soft palate OMIM:620183
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Coloboma OMIM:617306
22Q11.2 Deletion Syndrome
Hypocalcemia, Attention deficit hyperactivity disorder ORPHA:567
Late-Onset Isolated Acth Deficiency
Anorexia, Hyponatremia, Hypercalcemia, Hyperuricemia ORPHA:199299
Otopalatodigital Syndrome, Type Ii
Hydrocephalus, Narrow mouth, Omphalocele, Spina bifida, Cleft palate, Umbilical hernia, Elbow con... OMIM:304120
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Hypoalbuminemia, Unconjugated hyperbilirubinemia OMIM:613658
Amish Lethal Microcephaly
Cleft soft palate, Death in infancy ORPHA:99742
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Hennekam Syndrome
Hypocalcemia ORPHA:2136
Anterior Segment Dysgenesis 2
Coloboma, Aniridia OMIM:610256
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Spinal Cord Injury
Hypercalcemia ORPHA:90058
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Ablepharon-Macrostomia Syndrome
Ventral hernia, Camptodactyly, Short upper lip, Omphalocele, Wide mouth, Anteriorly placed anus OMIM:200110
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Rubinstein-Taybi Syndrome 1
Narrow palate, High, narrow palate, Spina bifida occulta, Dental crowding, Coloboma, High palate,... OMIM:180849
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Coloboma, Retinal coloboma, Spina bifida, Long philtrum, Thin upper lip vermilion, Iris coloboma ORPHA:508498
Sacral Defect With Anterior Meningocele
Myeloschisis, Meningocele, Hydrocephalus, Rectal abscess, Dermal sinus tract, Myelomeningocele, S... OMIM:600145
Bohring-Opitz Syndrome
Coloboma, Bilateral wrist flexion contracture, Congenital contracture, Prominent palatine ridges,... ORPHA:97297
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia ORPHA:667
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypocalcemia, Impulsivity, Stereotypical body rocking, Hypomagnesemia, Dysphagia, Bruxism OMIM:619503
Osteopetrosis With Renal Tubular Acidosis
Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:2785
Renpenning Syndrome 1
Short philtrum, Coloboma, High palate, Narrow mouth, Anal atresia, Camptodactyly, Cleft palate, T... OMIM:309500
Cardiac Diverticulum
Diastasis recti, Omphalocele, Abdominal wall defect, Umbilical hernia ORPHA:1686
Liver Disease, Severe Congenital
Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, Hyperalaninemia, Hyponatremia, Hyperammonemia,... OMIM:619991
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Cyclopia, Solitary median maxillary central incisor, Alobar holopros... OMIM:301043
Isolated Posterior Meningocele
Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele ORPHA:268810
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft hard palate ORPHA:166016
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Broad alveolar ridges, Coloboma, High palate, Furrowed tongue, Smooth philtrum, Cleft lip, Duoden... OMIM:616975
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate OMIM:604757
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High, narrow palate, Short uvula, Short philtrum, Hydrocephalus, Coloboma, High palate, Ankyloglo... OMIM:619475
Addison Disease
Hyperkalemia, Anorexia, Hyperuricemia, Increased circulating renin level, Hyponatremia, Hypercalc... ORPHA:85138
Beckwith-Wiedemann Syndrome
Macroglossia, Diastasis recti, Omphalocele OMIM:130650
Monosomy 13Q34
Hypercalcemia ORPHA:96168
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Everted lower lip vermilion, Intestinal malrotation, Bifid uvula... OMIM:601803
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Tessier cleft, Esophageal atresia, Ectopic anus, Anal atresia, Omphalocele, Cleft upper lip, Long... ORPHA:93271
Acro-Renal-Ocular Syndrome
Aganglionic megacolon, Coloboma, Chorioretinal coloboma, Optic disc coloboma, Iris coloboma ORPHA:959
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93325
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Long philtrum, Coloboma OMIM:615877
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Cheilitis, Aganglionic megacolon, Inguinal hernia, Abnormal dental enamel morphology, Omphalocele... ORPHA:2273
Hypercalcemia OMIM:171300
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Aganglionic megacolon, Inguinal hernia, Omphalocele, Cleft palate, Neonatal death, Umbilical hernia OMIM:308205
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Hypercalcemia, Hypophosphatemia, Dysphagia ORPHA:99880
Semilobar Holoprosencephaly
Cyclopia, Neural tube defect, Solitary median maxillary central incisor, Hydrocephalus, High pala... ORPHA:220386
Alobar Holoprosencephaly
Cyclopia, Neural tube defect, Solitary median maxillary central incisor, Hydrocephalus, High pala... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Cyclopia, Neural tube defect, Solitary median maxillary central incisor, Hydrocephalus, High pala... ORPHA:93926
Lobar Holoprosencephaly
Cyclopia, Neural tube defect, Solitary median maxillary central incisor, Hydrocephalus, High pala... ORPHA:93924
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula... OMIM:601678
Digeorge Syndrome
Hypocalcemia, Attention deficit hyperactivity disorder OMIM:188400
Parathyroid Carcinoma
Polydipsia, Hypercalcemia, Hypophosphatemia, Dysphagia ORPHA:143
Loeys-Dietz Syndrome 5
Cleft soft palate, High palate, Eosinophilic infiltration of the esophagus, Bifid uvula, Cleft pa... OMIM:615582
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Narrow palate, Supernumerary tooth, Dental crowding, Coloboma, Talon cusp, Intestinal malrotation... ORPHA:353281
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia ORPHA:249
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia ORPHA:29073
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Coloboma ORPHA:85167
Orofaciodigital Syndrome Type 10