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Gene: Specc1l MGI:1921642

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased thigmotaxis Specc1lem1(IMPC)J HOM Early adult 5.63×10-05
hyperactivity Specc1lem1(IMPC)J HOM Early adult 2.47×10-09
decreased circulating calcium level Specc1lem1(IMPC)J HOM Early adult 3.47×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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Electroretinography 3

Fundus file

5 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

15 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

8 Images

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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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Facial Clefting, Oblique, 1
Coloboma, Cleft palate, Cleft upper lip OMIM:600251
Teebi Hypertelorism Syndrome 1
Omphalocele, Thin upper lip vermilion, Natal tooth, Dental crowding, Long philtrum OMIM:145420
Specc1L-Related Hypertelorism Syndrome
Omphalocele, Orofacial cleft, Thin vermilion border, Everted lower lip vermilion, Long philtrum, ... ORPHA:1519

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Schizophrenia 15
Hyperactivity OMIM:613950
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele, Hydrocephalus, Bifid uvula, Cleft palate OMIM:258320
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Compulsive behaviors OMIM:618830
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Omphalocele
Omphalocele ORPHA:660
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Acalvaria
Omphalocele, Spina bifida, Hydrocephalus, Cleft palate, Holoprosencephaly ORPHA:945
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele, Bilateral cleft palate, Bilateral cleft lip, Cleft upper lip, Anterior encephalocele... OMIM:601357
Schisis Association
Omphalocele, Encephalocele, Congenital diaphragmatic hernia, Spina bifida, Anencephaly, Tracheoes... ORPHA:63862
Fetal Valproate Spectrum Disorder
Omphalocele, Narrow mouth, Downturned corners of mouth, Thin vermilion border, Long philtrum ORPHA:1906
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Type II lissencephaly OMIM:615041
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Omphalocele, X-Linked
Omphalocele OMIM:310980
Syngnathia
Cleft palate OMIM:119550
Omphalocele, Autosomal
Omphalocele OMIM:164750
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
2q33.1 deletion syndrome
Inguinal hernia, High palate, Cleft palate DECIPHER:51
Facial Clefting, Oblique, 1
Coloboma, Cleft palate, Cleft upper lip OMIM:600251
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Coloboma, Pulp calcification, T... OMIM:166750
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Uvula, Bifid
Bifid uvula OMIM:192100
Hypoparathyroidism, Familial Isolated, 1
Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Lethal Omphalocele-Cleft Palate Syndrome
Omphalocele, Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Bifid uvula ORPHA:2736
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Microphthalmia, Isolated, With Coloboma 4
Coloboma OMIM:251505
Abruzzo-Erickson Syndrome
Coloboma, Cleft palate OMIM:302905
Meckel Syndrome, Type 2
Omphalocele, Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Cleft palate OMIM:603194
Craniorachischisis
Omphalocele, Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephal... ORPHA:63260
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Coloboma, Occipital encephalocele, Hydrocephalus, Orofacial cleft ORPHA:324416
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Ectopic anus, Gastroschisis ORPHA:2476
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Non-Syndromic Metopic Craniosynostosis
Omphalocele ORPHA:3366
Triploidy
Omphalocele, Intestinal malrotation, Non-midline cleft lip, Hydrocephalus, Meningocele, Cleft pal... ORPHA:3376
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Caudal Duplication
Omphalocele, Myelomeningocele, Intestinal duplication, Spina bifida ORPHA:1756
Hypothyroidism, Congenital, Nongoitrous, 4
Omphalocele, Macroglossia, Umbilical hernia OMIM:275100
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Coloboma Of Macula With Type B Brachydactyly
Coloboma OMIM:120400
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Microphthalmia, Isolated, With Coloboma 6
Coloboma OMIM:613703
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Isolated Anencephaly
Omphalocele, Cleft lip, Congenital diaphragmatic hernia ORPHA:563609
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Non-midline cleft lip, Cleft palate ORPHA:1074
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth OMIM:183300
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Hyperglycinemia OMIM:605899
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Adamantinoma
Hypercalcemia ORPHA:55881
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Pyknoachondrogenesis
Stillbirth OMIM:265880
Thoracoabdominal Syndrome
Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Cleft upper lip, Hydrocephalus, Ane... OMIM:313850
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Cleft palate, Coloboma, Abnormal oral frenulum morphology, Short philtrum ORPHA:1617
Rhiny
Inguinal hernia, Thin vermilion border OMIM:180360
Pseudodiastrophic Dysplasia
Omphalocele ORPHA:85174
Cleft Soft Palate
Cleft soft palate OMIM:119570
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Microphthalmia, Isolated 4
Coloboma OMIM:613094
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft palate, Iris coloboma, Chorioretinal coloboma, Cleft upper lip OMIM:120433
Trigonocephaly 1
Omphalocele, High, narrow palate, Meckel diverticulum, Long philtrum OMIM:190440
Hartnup Disorder
Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94090
Miller-Dieker Syndrome
Omphalocele, Abnormal upper lip morphology ORPHA:531
Distal Duplication 15Q
Omphalocele, Camptodactyly of finger, Downturned corners of mouth, High palate, Long philtrum, An... ORPHA:1707
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Autoimmune Hypoparathyroidism
Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seiz... ORPHA:36913
Frontonasal Dysplasia 1
Frontal cutaneous lipoma, Pericallosal lipoma, Median cleft lip, Anterior basal encephalocele, Wi... OMIM:136760
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Hernia, Double Inguinal
Inguinal hernia OMIM:142350
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Joubert Syndrome 15
Coloboma, Exencephaly OMIM:614464
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth ORPHA:2016
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate OMIM:119540
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia OMIM:238700
Donnai-Barrow Syndrome
Omphalocele, Intestinal malrotation, Congenital diaphragmatic hernia, Umbilical hernia, Iris colo... ORPHA:2143
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Hyperprolinemia, Aggressive behavior OMIM:239500
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Anencephaly 2
Median cleft lip, Anencephaly, Median cleft palate, Cleft maxillary alveolar ridge OMIM:619452
Colonic Atresia
Omphalocele, Peptic ulcer, Duodenal stenosis, Gastroschisis, Colonic atresia ORPHA:1198
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Fetal Encasement Syndrome
Omphalocele, Congenital diaphragmatic hernia OMIM:613630
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Pentalogy Of Cantrell
Omphalocele, Encephalocele, Congenital diaphragmatic hernia, Non-midline cleft lip, Hydrocephalus... ORPHA:1335
Iniencephaly
Omphalocele, Encephalocele, Congenital diaphragmatic hernia, Spina bifida, Myelomeningocele, Hydr... ORPHA:63259
Intellectual Developmental Disorder, Autosomal Recessive 67
Coloboma OMIM:618295
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Macroglossia, Delayed eruption of teeth OMIM:614450
Constricting Bands, Congenital
Omphalocele, Encephalocele, Cleft upper lip, Cleft palate, Gastroschisis, Bladder exstrophy OMIM:217100
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Isolated Hemihyperplasia
Inguinal hernia, Myelomeningocele, Abnormality of the dentition ORPHA:2128
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Abruzzo-Erickson Syndrome
Cleft palate, Coloboma, Chorioretinal coloboma, Iris coloboma, Abnormal palate morphology ORPHA:921
Non-Syndromic Posterior Hypospadias
Omphalocele, Congenital diaphragmatic hernia, Esophageal atresia, Cleft palate, Anal atresia ORPHA:95706
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Depres... OMIM:261600
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Congenital diaphragmatic hernia ORPHA:2141
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Attention deficit hyperactivity disorder OMIM:617028
Pai Syndrome
Encephalocele, Median cleft lip, Midline central nervous system lipomas, Cleft palate, Bifid uvul... ORPHA:1993
Diprosopus
Non-midline cleft lip, Anencephaly, Cleft palate ORPHA:1681
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Short philtrum, Downturned corners of mouth ORPHA:93267
Biemond Syndrome Type 2
Coloboma, Hydrocephalus ORPHA:141333
Joubert Syndrome 16
Encephalocele, Coloboma OMIM:614465
Isolated Dandy-Walker Malformation
Encephalocele, Cleft palate ORPHA:217
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Intestinal malrotation, Congenital diaphragmatic hernia OMIM:601163
Catifa Syndrome
Delayed eruption of teeth, Inguinal hernia, Cleft lip, Cleft palate, Increased overbite, Camptoda... OMIM:618761
15Q24 Microdeletion Syndrome
Smooth philtrum, Congenital diaphragmatic hernia, Abnormality of the dentition, Myelomeningocele,... ORPHA:94065
Robinow Syndrome, Autosomal Recessive 2
Ventral hernia, Omphalocele, Cleft soft palate, Abnormality of the dentition, Gingival overgrowth... OMIM:618529
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior OMIM:301107
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Holoprosencephaly-Postaxial Polydactyly Syndrome
Omphalocele, Encephalocele, Intestinal malrotation, Hydrocephalus, Cleft palate, Orofacial cleft,... ORPHA:2166
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Iris coloboma OMIM:610023
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Bladder Exstrophy
Omphalocele, Inguinal hernia, Intestinal malrotation, Umbilical hernia, Bladder exstrophy, Abnorm... ORPHA:93930
Holoprosencephaly 7
Omphalocele, Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Alobar holoprosenceph... OMIM:610828
Parietal Foramina 1
Encephalocele, Cleft palate, Cleft upper lip OMIM:168500
Hypotonia-Cystinuria Syndrome
Polyphagia, Hypocalcemia OMIM:606407
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Anorexia, Hypomagnesemia OMIM:175500
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Fryns Microphthalmia Syndrome
Neural tube defect, Bilateral cleft lip and palate OMIM:600776
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Pseudotrisomy 13 Syndrome
Omphalocele, Encephalocele, Cleft upper lip, Hydrocephalus, Holoprosencephaly, Cyclopia, Anal atr... OMIM:264480
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Trisomy 18
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Spina bifida, Esophageal a... ORPHA:3380
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Omphalocele, Prune belly, Anal atresia OMIM:601389
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Inguinal hernia, Spina bifida, Camptodactyly, Joint contracture of the hand, Long philtrum OMIM:211960
Baraitser-Winter Syndrome 2
Thin upper lip vermilion, Orofacial cleft, Wide mouth, Coloboma, Long philtrum OMIM:614583
Solitary Median Maxillary Central Incisor
Cleft upper lip, Prominent median palatal raphe, Coloboma, Holoprosencephaly, Torus palatinus, So... OMIM:147250
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Glycosylphosphatidylinositol Biosynthesis Defect 11
Inguinal hernia, Tented upper lip vermilion, Macroglossia, High palate, Umbilical hernia OMIM:616025
Boomerang Dysplasia
Omphalocele, Aplasia/Hypoplasia of the abdominal wall musculature ORPHA:1263
Vacterl/Vater Association
Omphalocele, Occipital encephalocele, Congenital diaphragmatic hernia, Non-midline cleft lip, Ane... ORPHA:887
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Omphalocele, Inguinal hernia, Exaggerated cupid's bow, Diastasis recti, Large placenta, Flexion c... ORPHA:254528
Trisomy 1Q
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Hydrocephalus, Cleft palat... ORPHA:261344
Focal Dermal Hypoplasia
Omphalocele, Inguinal hernia, Abnormal dental morphology, Abnormal dental enamel morphology, Cong... ORPHA:2092
Pseudohypoparathyroidism Type 1B
Calcinosis, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypoc... ORPHA:94089
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma OMIM:274270
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Omphalocele, Thin upper lip vermilion, Exaggerated cupid's bow, Intestinal malrotation, Short phi... OMIM:618316
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Chromosome 9P Deletion Syndrome
Omphalocele, Thin upper lip vermilion, Inguinal hernia, High, narrow palate, Deep philtrum, Narro... OMIM:158170
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Umbilical hernia, Diastasis recti, Large placenta ORPHA:254534
Coach Syndrome 2
Coloboma, Hydrocephalus, Chorioretinal coloboma OMIM:619111
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Coloboma Of Macula And Skeletal Anomalies
Macular coloboma, Cleft palate, Contracture of the distal interphalangeal joint of the 5th finger OMIM:216800
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Fryns Syndrome
Omphalocele, Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malr... ORPHA:2059
Joubert Syndrome 14
Encephalocele, Tented upper lip vermilion, Hydrocephalus, Meningocele, Cleft palate, Coloboma, Sh... OMIM:614424
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Irritability, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele, Intestinal malrotation, Aqueductal stenosis ORPHA:3035
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Congenital diaphragmatic hernia, Hydrocephalus, Tracheoesophageal fistula, Gingival ... ORPHA:1834
Branchio-Oculo-Facial Syndrome
Deep philtrum, Non-midline cleft lip, Orofacial cleft, Atypical scarring of skin, Coloboma, Tooth... ORPHA:1297
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Flexion contracture, Smooth philtrum, Congenital diaphragmatic hernia OMIM:263210
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Otopalatodigital Syndrome Type 2
Omphalocele, Encephalocele, Camptodactyly of finger, Myelomeningocele, Pierre-Robin sequence, Hyd... ORPHA:90652
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Umbilical hernia, Inguinal hernia, Macular coloboma, Chorioretinal coloboma ORPHA:2196
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... ORPHA:199306
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Acropectorovertebral Dysplasia
High, narrow palate, Spina bifida, Camptodactyly of finger, Cleft palate ORPHA:957
Cloacal Exstrophy
Omphalocele, Intestinal malrotation, Spina bifida, Myelomeningocele, Intestinal duplication, Blad... ORPHA:93929
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... ORPHA:3077
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Omphalocele, Natal tooth, Encephalocele, Hamartoma of tongue, Cleft lip, Cleft palate, Incomplete... OMIM:616300
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Thin upper lip vermilion, Inguinal hernia, Diastema, Downturned corners of mouth, Wide mouth, Col... ORPHA:329224
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hyperactivity, Hypokalemia, Self-biting OMIM:618314
Acrocallosal Syndrome
Downturned corners of mouth, Coloboma, High palate, Short philtrum, Prominent palatine ridges, Bi... OMIM:200990
Carpenter Syndrome 1
Omphalocele, Persistence of primary teeth, Spina bifida occulta, Agenesis of permanent teeth, Hig... OMIM:201000
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Osteopathia Striata With Cranial Sclerosis
Omphalocele, Natal tooth, Anal stenosis, Dental crowding, Intestinal malrotation, Cleft upper lip... OMIM:300373
Anophthalmia Plus Syndrome
Spina bifida, Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate, Iris coloboma ORPHA:1104
Donnai-Barrow Syndrome
Omphalocele, Intestinal malrotation, Congenital diaphragmatic hernia, Umbilical hernia, Iris colo... OMIM:222448
Verheij Syndrome
Branchial cyst, Thin upper lip vermilion, Cleft palate, Coloboma, Long philtrum OMIM:615583
Holoprosencephaly
Omphalocele, Encephalocele, Median cleft lip, Bilateral cleft lip, Congenital diaphragmatic herni... ORPHA:2162
Intermediate Osteopetrosis
Hypocalcemia ORPHA:210110
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Natal tooth, Cleft palate OMIM:217150
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Multiple lipomas, Lipoma, Spina bifida occulta OMIM:182940
Ritscher-Schinzel Syndrome 1
Anal atresia, Hydrocephalus, Coloboma, Cleft palate OMIM:220210
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Tooth agenesis, Inguinal hernia, High palate, Cleft palate ORPHA:1135
Developmental Delay With Or Without Dysmorphic Facies And Autism
Omphalocele, Thin upper lip vermilion, Inguinal hernia, Congenital diaphragmatic hernia, Cleft li... OMIM:618454
Joubert Syndrome 23
Coloboma OMIM:616490
Developmental And Epileptic Encephalopathy 89
Omphalocele, Thin upper lip vermilion, Flexion contracture, Cleft palate, Long philtrum, Neonatal... OMIM:619124
Short-Rib Thoracic Dysplasia 12
Omphalocele, Natal tooth, Inguinal hernia, Median cleft lip, Intestinal malrotation, Hamartoma of... OMIM:269860
Pseudohypoparathyroidism Type 1C
Calcinosis, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Polyp... ORPHA:79444
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Autosomal Dominant Hypocalcemia
Depression, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Emotional lability ORPHA:428
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
3Mc Syndrome 1
Omphalocele, Dental crowding, Diastasis recti, Cleft upper lip, Cleft lip, Abnormality of the abd... OMIM:257920
Cholera
Hyponatremia, Abnormal blood ion concentration, Irritability, Hypokalemia, Hypocalcemia ORPHA:173
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:2521
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Arthrogryposis multiplex congenita, Non-midline cleft lip, Cleft palate ORPHA:1484
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Cleft palate OMIM:614120
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Kagami-Ogata Syndrome
Omphalocele, Inguinal hernia, Diastasis recti, Flexion contracture, Long philtrum OMIM:608149
Diaphanospondylodysostosis
Myelomeningocele, Cleft palate ORPHA:66637
Hypocalcemic Vitamin D-Dependent Rickets
Irritability, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia ORPHA:289157
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Wide mouth, Macroglossia, Coloboma, Everted lower lip vermilion, Open mouth OMIM:616789
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Transient hyperphenylalaninemia, Aggressive behavior OMIM:612716
Marcus-Gunn Syndrome
Cleft lip, Coloboma, Cleft palate ORPHA:91412
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen ORPHA:94059
Otopalatodigital Syndrome, Type I
Omphalocele, Selective tooth agenesis, Cleft palate, Multiple impacted teeth, Narrow mouth OMIM:311300
Stevenson-Carey Syndrome
Pierre-Robin sequence, Downturned corners of mouth, Coloboma, Narrow mouth, Joint contracture of ... OMIM:611961
Lethal Congenital Contracture Syndrome 10
Omphalocele, Narrow palate, Macroglossia, High palate, Long philtrum OMIM:617022
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hyperkalemia, H... ORPHA:94093
Teebi Hypertelorism Syndrome 1
Omphalocele, Thin upper lip vermilion, Natal tooth, Dental crowding, Long philtrum OMIM:145420
Fibrochondrogenesis 1
Omphalocele, Cleft palate, Stillbirth, Narrow mouth, Joint contracture of the hand, Camptodactyly... OMIM:228520
Hypophosphatasia
Irritability, Hypercalcemia ORPHA:436
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Blepharocheilodontic Syndrome 1
Cleft upper lip, Conical tooth, Neural tube defect, Hypodontia, Anal atresia OMIM:119580
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Omphalocele, Thin upper lip vermilion OMIM:601927
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysmal burst... OMIM:618718
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Omphalocele, Abnormality of... OMIM:247200
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Omphalocele, Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rect... OMIM:243150
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Long philtrum OMIM:617895
Meckel Syndrome, Type 5
Occipital encephalocele, Anencephaly, Cleft palate, Cleft upper lip OMIM:611561
Robinow Syndrome, Autosomal Dominant 3
Omphalocele, Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, Agenesis of perma... OMIM:616894
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Inappropriate laughter OMIM:618476
Mosaic Trisomy 1
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Thick lower lip vermilion,... ORPHA:1692
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Omphalocele, Median cleft lip, Orofacial cleft, Holoprosencephaly, Cyclopia, Iris coloboma ORPHA:3186
Opitz Gbbb Syndrome
Omphalocele, Natal tooth, Inguinal hernia, Congenital diaphragmatic hernia, Cleft lip, Tracheoeso... ORPHA:2745
Rhabdoid Tumor
Irritability, Hypercalcemia ORPHA:69077
Holoprosencephaly 11
Cleft lip, Holoprosencephaly, Cleft palate OMIM:614226
Timothy Syndrome
Hypocalcemia OMIM:601005
Chromosome 10Q26 Deletion Syndrome
Omphalocele, Thin upper lip vermilion, High palate, Long philtrum, Smooth philtrum OMIM:609625
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Fibrochondrogenesis
Omphalocele, Camptodactyly of finger, Cleft palate, Narrow mouth ORPHA:2021
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior OMIM:615516
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
C Syndrome
Omphalocele, Accessory oral frenulum, Wide mouth, High palate, Thick anterior alveolar ridges OMIM:211750
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Exaggerated cupid's bow, Wide mouth, Coloboma, Narrow mouth, Smooth philtrum, Long philtrum OMIM:618659
Enlarged Parietal Foramina
Cleft lip, Occipital encephalocele, Myelomeningocele, Cleft palate ORPHA:60015
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Cleft palate OMIM:601355
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Coloboma, Hydrocephalus OMIM:613153
Pontocerebellar Hypoplasia, Type 11
Coloboma, Anal atresia OMIM:617695
Coffin-Siris Syndrome 11
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi... OMIM:618779
Neurooculocardiogenitourinary Syndrome
Downturned corners of mouth, Coloboma, Smooth philtrum OMIM:618652
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Coloboma, Thin vermilion border, Gingival overgrowth, Long philtrum ORPHA:464288
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Oculogastrointestinal Neurodevelopmental Syndrome
Coloboma, Anal atresia OMIM:619318
Pseudohypoparathyroidism Type 1A
Calcinosis, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Polyp... ORPHA:79443
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Generalized Pustular Psoriasis
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Congenital Muscular Dystrophy With Cerebellar Involvement
Macroglossia, Occipital encephalocele, Hydrocephalus, Coloboma ORPHA:370959
Meckel Syndrome, Type 1
Smooth philtrum, Thin upper lip vermilion, Natal tooth, Omphalocele, Occipital encephalocele, Int... OMIM:249000
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
D-Lactic Aciduria With Gout
Aniridia, Inguinal hernia OMIM:245450
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia, Dysphagia OMIM:617913
Holoprosencephaly-Caudal Dysgenesis Syndrome
Cyclopia, Median cleft lip, Holoprosencephaly, Cleft palate ORPHA:2165
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Omphalocele, Umbilical hernia, Microcolon, Intestinal malrotation ORPHA:2241
Alg3-Cdg
Lipodystrophy, Macroglossia, Neural tube defect, High palate, Arthrogryposis multiplex congenita,... ORPHA:79321
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia OMIM:618440
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Anteriorly placed anus, Oligodontia, Chorioretinal coloboma, Spi... OMIM:305600
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Esophageal varix, Wide mouth, Coloboma OMIM:216360
Melnick-Needles Syndrome
Omphalocele, Tooth malposition, Delayed eruption of teeth ORPHA:2484
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Esophageal Atresia
Omphalocele, Barrett esophagus, Intestinal malrotation, Cleft lip, Pyloric stenosis, Tracheoesoph... ORPHA:1199
Ethylene Glycol Poisoning
Hyperkalemia, Addictive alcohol use, Hypocalcemia, Euphoria ORPHA:31826
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Cleft palate, Non-midline cleft lip, Lip pit ORPHA:1072
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Velocardiofacial Syndrome
Emotional lability, Hypocalcemia, Aggressive behavior OMIM:192430
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormality of upper lip vermillion, Dental crowding, Abnormality of the dentition, Narrow mouth,... ORPHA:251028
Joubert Syndrome 22
Coloboma OMIM:615665
Familial Multiple Lipomatosis
Odontogenic keratocysts of the jaw, Lipodystrophy, Increased adipose tissue, Coloboma, Premature ... ORPHA:199276
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Depression OMIM:212750
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Kagami-Ogata Syndrome
Omphalocele, Pursed lips, Inguinal hernia, Diastasis recti, Large placenta, Broad philtrum ORPHA:254519
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele, Iris coloboma ORPHA:371428
Hypophosphatasia, Infantile
Irritability, Elevated plasma pyrophosphate, Hypercalcemia, Anorexia OMIM:241500
Fryns Syndrome
Omphalocele, Meckel diverticulum, Tented upper lip vermilion, Aganglionic megacolon, Intestinal m... OMIM:229850
Trisomy 8Q
Camptodactyly of finger, Non-midline cleft lip, Myelomeningocele, Cleft palate, Orofacial cleft, ... ORPHA:1752
2Q31.1 Microdeletion Syndrome
Inguinal hernia, Camptodactyly of finger, Deep philtrum, Optic disc coloboma, Cleft palate, Downt... ORPHA:251014
Aase-Smith Syndrome I
Open mouth, Flexion contracture, Hydrocephalus, Cleft palate OMIM:147800
Marshall-Smith Syndrome
Eclabion, Irregular dentition, Omphalocele, Pyloric stenosis, Hydrocephalus, Gingival overgrowth,... OMIM:602535
Manitoba Oculotrichoanal Syndrome
Omphalocele, Anal stenosis, Anteriorly placed anus OMIM:248450
Igg4-Related Thyroid Disease
Hypocalcemia, Dysphagia ORPHA:64744
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Oeis Complex
Omphalocele, Intestinal malrotation, Myelomeningocele, Hydrocephalus, Anteriorly placed anus, Rec... OMIM:258040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Coloboma, Hydrocephalus, Flexion contracture OMIM:615249
Cree Mental Retardation Syndrome
Coloboma, Cleft soft palate OMIM:606851
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypercalcemia, Depression OMIM:600740
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Hydrolethalus
Hydrocephalus, Submucous cleft hard palate, Anencephaly, Cleft palate, Gingival cleft, Unilateral... ORPHA:2189
Srd5A3-Cdg
Coloboma, Oligodontia ORPHA:324737
Unilateral Ocular Duplication
Encephalocele, Median cleft lip, Iris coloboma, Cleft palate ORPHA:3374
Bosma Arhinia Microphthalmia Syndrome
Inguinal hernia, Cleft lip, Dental malocclusion, Cleft palate, Hypoplasia of teeth, Coloboma, Hig... OMIM:603457
Osteopetrosis, Autosomal Recessive 5
Irritability, Hypocalcemia, Hyperbilirubinemia OMIM:259720
Pagod Syndrome
Omphalocele, Encephalocele, Spina bifida, Congenital diaphragmatic hernia, Meningocele ORPHA:991
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Myoectodermal Gonadal Dysgenesis Syndrome
Smooth philtrum, Omphalocele, Diastasis recti, Pyloric stenosis, Thin vermilion border, Hypodonti... OMIM:618419
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Cleft palate OMIM:611134
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Hyperparathyroidism, Neonatal Severe
Calcinosis, Polydipsia, Hypercalcemia, Hypophosphatemia OMIM:239200
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cleft palate, Furrowed tongue, Downturned corners of mouth, Macroglossia, Oligodontia, Coloboma, ... ORPHA:453499
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behavior... ORPHA:476126
Fraser Syndrome
Omphalocele, Encephalocele, Anal stenosis, Dental crowding, Cleft upper lip, Myelomeningocele, De... ORPHA:2052
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Restlessness, Abnormal fear-induced behavior, Abnormal circulating porphyrin concen... ORPHA:100924
Exstrophy-Epispadias Complex
Omphalocele, Anal stenosis, Inguinal hernia, Spina bifida, Hydrocephalus, Cystocele, Abnormality ... ORPHA:322
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Nasopalpebral Lipoma-Coloboma Syndrome
Coloboma, Lipomas of eyelids OMIM:167730
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... ORPHA:36234
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Simpson-Golabi-Behmel Syndrome
Omphalocele, Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic hernia, Cleft upp... ORPHA:373
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity, Polyphagia OMIM:275000
Bartsocas-Papas Syndrome 1
Omphalocele, Anal stenosis, Inguinal hernia, Cleft upper lip, Flexion contracture, Cleft palate, ... OMIM:263650
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb... ORPHA:37042
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele ORPHA:3329
C Syndrome
Omphalocele, Accessory oral frenulum, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the ... ORPHA:1308
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Cleft upper lip, Meningoencephalocele, Hydrocephalus, Cleft palate, Colo... OMIM:236670
Kabuki Syndrome
Abnormal dental morphology, Lip pit, Abnormality of the dentition, Congenital diaphragmatic herni... ORPHA:2322
Microphthalmia, Syndromic 5
Coloboma, Cleft palate OMIM:610125
Birk-Barel Syndrome
Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft palate, Bifid uvula OMIM:612292
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... OMIM:620330
Alg9-Cdg
Omphalocele, Thin upper lip vermilion, Villous atrophy, Lipodystrophy, Wide mouth, Long philtrum,... ORPHA:79328
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Depression, Irritability, Self-injurious behavior, Abnormal t... ORPHA:449291
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Cleft palate OMIM:607361
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Orofaciodigital Syndrome Xix
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m... OMIM:620107
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Cleft palate OMIM:243440
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Citrullinemia Type Ii
Restlessness, Hyperactivity, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyper... ORPHA:247585
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Specc1L-Related Hypertelorism Syndrome
Omphalocele, Orofacial cleft, Thin vermilion border, Everted lower lip vermilion, Long philtrum, ... ORPHA:1519
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Holoprosencephaly 3
Cleft lip, Cleft palate, Holoprosencephaly, Solitary median maxillary central incisor, Cyclopia, ... OMIM:142945
Melnick-Needles Syndrome
Omphalocele, Delayed eruption of teeth, Cleft palate, Stillbirth, Tooth malposition OMIM:309350
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Open bi... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Open bi... ORPHA:352665
Omphalocele Syndrome, Shprintzen-Goldberg Type
Omphalocele, Thin upper lip vermilion, Downturned corners of mouth, Anal atresia ORPHA:3164
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Congenital Disorder Of Glycosylation, Type Iq
Coloboma OMIM:612379
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Gitelman Syndrome
Salt craving, Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Polydipsia ORPHA:358
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Pearson Syndrome
Dysphagia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Hyperalaninemia ORPHA:699
Ablepharon Macrostomia Syndrome
Omphalocele, Camptodactyly of finger, Wide mouth, Thin vermilion border, Microdontia, Umbilical h... ORPHA:920
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hypoplasia of the small intestine, Omphalocele OMIM:200995
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Codas Syndrome
Delayed eruption of teeth, Omphalocele, Rectovaginal fistula, Enamel hypoplasia, Anal atresia OMIM:600373
Hydrolethalus Syndrome 1
Omphalocele, Median cleft lip, Anencephaly, Cleft palate, Severe hydrocephalus OMIM:236680
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Exencephaly, Long philtrum ORPHA:2211
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Omphalocele, Tented upper lip vermilion, Interphalangeal joint contracture of finger, Diastasis r... ORPHA:96334
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Omphalocele, Diastasis recti, Intestinal malrotation, Esophageal atresia, Cleft lip, Tracheoesoph... OMIM:265380
Heterotaxy, Visceral, 1, X-Linked
Omphalocele, Posteriorly placed anus, Aqueductal stenosis, Myelomeningocele, Hydrocephalus, Anal ... OMIM:306955
Autosomal Dominant Keratitis
Aniridia, Coloboma ORPHA:2334
Limb Body Wall Complex
Ventral hernia, Encephalocele, Diastasis recti, Congenital diaphragmatic hernia, Spina bifida, Cl... ORPHA:2369
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Genitourinary And/Or Brain Malformation Syndrome
Omphalocele, Jejunal atresia, Ileal atresia, Holoprosencephaly, Long philtrum OMIM:618820
Isotretinoin-Like Syndrome
Hypocalcemia ORPHA:2306
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Anorexia, Hyperkalemia, Hyperuricemia ORPHA:199299
Beckwith-Wiedemann Syndrome
Omphalocele, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Large placenta, C... ORPHA:116
Okamoto Syndrome
Omphalocele, Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Intesti... ORPHA:2729
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Cleft palate OMIM:257910
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Acute Adrenal Insufficiency
Hyponatremia, Salt craving, Hypercalcemia, Anorexia, Hyperkalemia, Increased circulating renin le... ORPHA:95409
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Cleft soft palate, Smooth philtrum OMIM:614526
Phakomatosis Pigmentokeratotica
Coloboma, Spina bifida ORPHA:2874
22Q11.2 Deletion Syndrome
Hypocalcemia, Attention deficit hyperactivity disorder, Depression ORPHA:567
Charge Syndrome
Omphalocele, Anal stenosis, Cleft upper lip, Esophageal atresia, Tracheoesophageal fistula, Cleft... OMIM:214800
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Intestinal malrotation, Jejunoileal ulceration, Rectal abscess, Intestinal atresia ORPHA:436252
Nasopalpebral Lipoma-Coloboma Syndrome
Coloboma, Lipomas of eyelids, Multiple lipomas ORPHA:2399
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia, Hamartoma of tongue, Accessory oral frenulum, Hydrocephalus, Ane... OMIM:616546
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Shprintzen Omphalocele Syndrome
Omphalocele, Thin vermilion border, Anal atresia OMIM:182210
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the dentition, Denta... OMIM:616331
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Schimmelpenning-Feuerstein-Mims Syndrome
Coloboma, Abnormality of dental color OMIM:163200
Cerebrocostomandibular Syndrome
Spina bifida, Myelomeningocele, Meningocele, Cleft palate, Glossoptosis, Hydranencephaly, Short h... ORPHA:1393
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Inguinal hernia, Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teet... ORPHA:2250
Thauvin-Robinet-Faivre Syndrome
Inguinal hernia, Macroglossia, Coloboma, Retinal coloboma, Thick vermilion border OMIM:617107
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia ORPHA:544482
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Coloboma OMIM:617306
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:466650
Otopalatodigital Syndrome, Type Ii
Omphalocele, Elbow contracture, Spina bifida, Hydrocephalus, Cleft palate, Narrow mouth, Umbilica... OMIM:304120
Anterior Segment Dysgenesis 2
Aniridia, Coloboma OMIM:610256
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Sacral lipoma, Re... OMIM:600145
Hennekam Syndrome
Hypocalcemia ORPHA:2136
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate OMIM:620183
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... OMIM:619991
Ablepharon-Macrostomia Syndrome
Ventral hernia, Omphalocele, Short upper lip, Anteriorly placed anus, Wide mouth, Camptodactyly OMIM:200110
Bohring-Opitz Syndrome
Cleft lip, Bilateral wrist flexion contracture, Cleft palate, Coloboma, Congenital contracture, P... ORPHA:97297
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Impulsivity, Hypomagnesemia, Bruxism, Stereotypical body rocking, Low frustration tolerance, Hypo... OMIM:619503
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia OMIM:613658
Rubinstein-Taybi Syndrome 1
Thin upper lip vermilion, Dental crowding, Spina bifida, High, narrow palate, Talon cusp, Dental ... OMIM:180849
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures ORPHA:405
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Argininemia
Hyperactivity, Anorexia, Hyperammonemia, Irritability, Hyperargininemia OMIM:207800
Osteopetrosis With Renal Tubular Acidosis
Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:2785
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thin upper lip vermilion, Spina bifida, Coloboma, Retinal coloboma, Long philtrum, Iris coloboma ORPHA:508498
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia ORPHA:667
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Amish Lethal Microcephaly
Death in infancy, Cleft soft palate ORPHA:99742
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cleft lip, Furrowed tongue, Coloboma, High palate, Broad alveolar ridges, Smooth philtrum, Duoden... OMIM:616975
Holoprosencephaly 13, X-Linked
Median cleft lip, Alobar holoprosencephaly, Submucous cleft hard palate, Cleft palate, Semilobar ... OMIM:301043
Renpenning Syndrome 1
Thin upper lip vermilion, Macrodontia, Cleft palate, Coloboma, Camptodactyly, High palate, Short ... OMIM:309500
Addison Disease
Hyponatremia, Salt craving, Hypercalcemia, Anorexia, Hyperkalemia, Increased circulating renin le... ORPHA:85138
Cardiac Diverticulum
Omphalocele, Umbilical hernia, Abdominal wall defect, Diastasis recti ORPHA:1686
Vitamin D-Dependent Rickets, Type 2A
Irritability, Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Thin upper lip vermilion, High, narrow palate, Short uvula, Hydrocephalus, Broad philtrum, Colobo... OMIM:619475
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft hard palate ORPHA:166016
Beckwith-Wiedemann Syndrome
Omphalocele, Macroglossia, Diastasis recti OMIM:130650
Acro-Renal-Ocular Syndrome
Aganglionic megacolon, Optic disc coloboma, Coloboma, Chorioretinal coloboma, Iris coloboma ORPHA:959
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Omphalocele, Inguinal hernia, Aganglionic megacolon, Cleft palate, Neonatal death, Umbilical hernia OMIM:308205
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Coloboma, Long philtrum OMIM:615877
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia ORPHA:99880
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate OMIM:604757
Monosomy 13Q34
Hypercalcemia ORPHA:96168
Popliteal Pterygium Syndrome
Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Spina bifida occulta, Bifid uvula OMIM:119500
Parathyroid Carcinoma
Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia ORPHA:143
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Non-midline cleft li... ORPHA:1071
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Omphalocele, Inguinal hernia, Aganglionic megacolon, Abnormal dental enamel morphology, Camptodac... ORPHA:2273
Pallister-Killian Syndrome
Tented upper lip vermilion, Congenital diaphragmatic hernia, Flexion contracture, Anteriorly plac... OMIM:601803
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Omphalocele, Cleft upper lip, Esophageal atresia, Ectopic anus, Long philtrum, Bifid tongue, Anal... ORPHA:93271
Digeorge Syndrome
Hypocalcemia, Attention deficit hyperactivity disorder OMIM:188400
Semilobar Holoprosencephaly
Median cleft lip, Hydrocephalus, Flexion contracture, Cleft palate, Neural tube defect, High pala... ORPHA:220386
Alobar Holoprosencephaly
Median cleft lip, Hydrocephalus, Flexion contracture, Cleft palate, Neural tube defect, High pala... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Median cleft lip, Hydrocephalus, Flexion contracture, Cleft palate, Neural tube defect, High pala... ORPHA:93926
Lobar Holoprosencephaly
Median cleft lip, Hydrocephalus, Flexion contracture, Cleft palate, Neural tube defect, High pala... ORPHA:93924
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Velopha... ORPHA:2751
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... OMIM:601678
Pheochromocytoma
Hypercalcemia OMIM:171300
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Natal tooth, Dental crowding, Intestinal malrotation, Carious teeth, Supernumerary tooth, Talon c... ORPHA:353281
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Loeys-Dietz Syndrome 5
Tented upper lip vermilion, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus... OMIM:615582
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia ORPHA:249
Vipoma
Hypokalemia, Hypercalcemia, Anorexia ORPHA:97282
Ppoma
Hypercalcemia, Anorexia ORPHA:97278
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Glucagonoma
Hypercalcemia, Anorexia, Depression ORPHA:97280
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Coloboma ORPHA:85167
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
Cerebrocostomandibular Syndrome
Anal stenosis, Cleft soft palate, Carious teeth, Cleft lip, Pierre-Robin sequence, Cleft palate, ... OMIM:117650
Orofaciodigital Syndrome Type 10
Cleft soft palate, Accessory oral frenulum, Long philtrum ORPHA:2756
Somatostatinoma
Hypercalcemia, Anorexia ORPHA:97283
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Natal tooth, Dental crowding, Intestinal malrotation, Carious teeth, Supernumerary tooth, Talon c... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Natal tooth, Dental crowding, Intestinal malrotation, Carious teeth, Supernumerary tooth, Talon c... ORPHA:353277
Grfoma
Hypercalcemia, Anorexia ORPHA:97261
Microphthalmia, Syndromic 3
Esophageal atresia, Coloboma OMIM:206900
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Inguinal hernia, Aganglionic megacolon, Abnormality of the gingiva, An... ORPHA:798
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Short philtrum, Cleft soft palate, Smooth philtrum ORPHA:293725
Roberts-Sc Phocomelia Syndrome
Ankle flexion contracture, Cleft upper lip, Hydrocephalus, Frontal encephalocele, Elbow flexion c... OMIM:268300
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Cleft hard palate, Submucou... OMIM:300990
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate ORPHA:93316
Limb-Mammary Syndrome
Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Bifid uvula ORPHA:69085
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Coloboma, Hydrocephalus, Everted lower lip vermilion OMIM:253280
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Eclabion, Thin upper lip vermilion, Cleft soft palate, High, narrow palate, Deep philtrum, Cleft ... OMIM:619950
Microphthalmia, Syndromic 6
Cleft palate, Coloboma, High palate, Microglossia, Bifid uvula OMIM:607932
Proximal Renal Tubular Acidosis
Coloboma, Enamel hypomineralization, Malabsorption ORPHA:47159
Treacher Collins Syndrome 1
Cleft soft palate, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Narrow mouth OMIM:154500
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Anorexia, Depression ORPHA:652
Williams Syndrome
Hypercalcemia, Elevated circulating creatine kinase concentration, Depression, Compulsive behavio... ORPHA:904
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Submucous cleft soft palate, Cleft soft palate ORPHA:2282
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inguinal hernia, Aqueductal stenosis, Hydrocephalus, Esophageal varix, Coloboma, Everted lower li... OMIM:619534
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Williams-Beuren Syndrome
Obsessive-compulsive trait, Hypercalcemia, Attention deficit hyperactivity disorder OMIM:194050
Hardikar Syndrome
Cleft soft palate, Intestinal malrotation, Celiac disease, Esophageal varix, Bilateral cleft lip ... OMIM:301068
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Downturned corners of mouth, Intestinal malrotation, Cleft soft palate, Smooth philtrum OMIM:619321
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Cleft soft palate OMIM:614557
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures OMIM:612301
Sotos Syndrome
Hypercalcemia, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:821
Diamond-Blackfan Anemia
Cleft lip, High palate, Cleft soft palate, Adenocarcinoma of the colon ORPHA:124
Sarcoidosis
Hypercalcemia ORPHA:797
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Pyloric stenosis, Supernumerary tooth, Widely spaced teeth, Cleft soft palate ORPHA:268261
Viss Syndrome
Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa... OMIM:619472

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Specc1l

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Specc1l.

No publications found that use IMPC mice or data for Specc1l.

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MGI Allele Allele Type Produced
Specc1lem1(IMPC)J Exon Deletion Mice

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