Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
AE binding protein 2
Synonyms:
B230313N05Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Aebp2 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.

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

The table below shows human diseases predicted to be associated to Aebp2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hirschsprung Disease, Susceptibility To, 1
Constipation, Enterocolitis, Abdominal distention, Vomiting, Abnormality of enteric ganglion morp... OMIM:142623
Trehalase Deficiency
Malabsorption, Abdominal distention, Abdominal pain, Diarrhea, Vomiting ORPHA:103909
Waardenburg Syndrome, Type 4B
Aganglionic megacolon, Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White f... OMIM:613265
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Secretory diarrhea, Inflammation of the large intestine, Elevated fecal sodium OMIM:616868
Congenital Sucrase-Isomaltase Deficiency
Diarrhea, Abdominal distention, Vomiting, Abdominal colic ORPHA:35122
Dyschromatosis Universalis Hereditaria
Hypermelanotic macule, Freckling, Spotty hypopigmentation, Multiple cafe-au-lait spots, Hypopigme... ORPHA:241
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Malabsorption, Abdominal distention, Abdominal pain, Vomiting, Nausea, Abnormal small ... ORPHA:103907
Piebald Trait
Piebaldism, Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Whi... OMIM:172800
Griscelli Syndrome, Type 1
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... OMIM:214450
Tietz Syndrome
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... ORPHA:42665
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Aganglionic megacolon, Hypopigmentation of hair, Heterochromia iridi... ORPHA:2885
Hirschsprung Disease
Constipation, Abdominal pain, Diarrhea, Intestinal obstruction, Intestinal polyposis, Nausea and ... ORPHA:388
Waardenburg Syndrome Type 2
Aganglionic megacolon, Hypopigmentation of hair, Heterochromia iridis, White forelock, Premature ... ORPHA:895
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Constipation, Abdominal pain, Hypopigmentation of hair, Inte... ORPHA:897
Volvulus Of Midgut
Abdominal distention, Constipation, Neonatal intestinal obstruction, Intestinal malrotation, Volv... OMIM:193250
Waardenburg Syndrome, Type 4A
Aganglionic megacolon, Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White f... OMIM:277580
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Colonic Atresia
Abdominal distention, Colonic atresia OMIM:303650
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Episodic abdominal pain, Abnormal autonomic nervous system physiology, Intestinal malrotation, Vo... OMIM:243180
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2435
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... OMIM:619947
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Intestinal Dysmotility Syndrome
High palate, Abdominal distention, Feeding difficulties, Projectile vomiting, Diarrhea, Decreased... OMIM:620045
Congenital Pancreatic Cyst
Anorexia, Abdominal distention, Vomiting, Abdominal pain ORPHA:313906
Atresia Of Small Intestine
Abdominal distention, Feeding difficulties, Intestinal malrotation, Vomiting, Intestinal hypoplas... ORPHA:1201
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Abdominal distention, Vomiting, Villous atrophy, Dep... OMIM:619445
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Short-segment aganglionic megacolon, Chronic constipation OMIM:619465
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair, Athetosis OMIM:257800
Abcd Syndrome
Albinism, White eyelashes, White eyebrow, Abnormal auditory evoked potentials, Total intestinal a... OMIM:600501
Dilution, Pigmentary
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair OMIM:126070
Cap Polyposis
Constipation, Abdominal distention, Abdominal pain, Diarrhea, Hematochezia, Colorectal polyposis,... ORPHA:160148
Secondary Short Bowel Syndrome
Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dys... ORPHA:95427
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2819
Congenital Short Bowel Syndrome
Abdominal distention, Intestinal atresia, Steatorrhea, Projectile vomiting, Intestinal malrotatio... OMIM:615237
Primary Peritoneal Carcinoma
Abdominal distention, Constipation, Abdominal pain, Peritonitis, Nausea and vomiting ORPHA:168829
Visceral Myopathy 1
Constipation, Abdominal distention, Abdominal pain, Diarrhea, Megaduodenum, Vomiting, Malnutritio... OMIM:155310
Isolated Polycystic Liver Disease
Abdominal distention, Gastroesophageal reflux, Abdominal pain, Feeding difficulties in infancy, G... ORPHA:2924
Dowling-Degos Disease 2
Reticular hyperpigmentation, Hypomelanotic macule OMIM:615327
Deafness-Vitiligo-Achalasia Syndrome
Achalasia, Hypopigmented skin patches ORPHA:3239
Waardenburg Syndrome, Type 3
Aganglionic megacolon, Blue irides, Partial albinism, Heterochromia iridis, White forelock, Prema... OMIM:148820
Adiposis Dolorosa
Abdominal distention, Constipation OMIM:103200
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... OMIM:607624
Enterocolitis
Ulcerative colitis, Abdominal distention, Enterocolitis, Hematochezia OMIM:226150
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Hypopigmentation of hair, Optic atrophy, Tremor, Generalized hyperp... ORPHA:33445
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypermelanotic macule, Progressive hyperpigmentation, Multiple lentigines, Vitiligo, Cafe-au-lait... OMIM:145250
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Malabsorption, Constipation, Abdominal distention, Abdominal pain, Malnutrition, Intestinal pseud... OMIM:613662
Piebaldism
Aganglionic megacolon, Hypopigmentation of hair, White eyebrow, White eyelashes, Heterochromia ir... ORPHA:2884
Hirschsprung Disease, Susceptibility To, 2
Aganglionic megacolon OMIM:600155
Hirschsprung Disease, Susceptibility To, 5
Aganglionic megacolon OMIM:600156
Hirschsprung Disease, Susceptibility To, 3
Aganglionic megacolon OMIM:613711
Hirschsprung Disease, Susceptibility To, 4
Aganglionic megacolon OMIM:613712
Visceral Myopathy, Familial, With External Ophthalmoplegia
Abdominal distention, Abdominal pain, Spontaneous esophageal perforation, Malnutrition, Gastropar... OMIM:277320
Waardenburg Syndrome
Aganglionic megacolon, Aplasia/Hypoplasia of the colon, Hypopigmentation of hair, Abnormality of ... ORPHA:3440
Hirschsprung Disease With Type D Brachydactyly
Aganglionic megacolon OMIM:306980
Glucose/Galactose Malabsorption
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea OMIM:606824
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Anal atresia, Aganglionic megacolon OMIM:235760
Athyreosis
Feeding difficulties, Abdominal distention, Constipation, Macroglossia ORPHA:95713
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Constipation, Aganglionic megacolon OMIM:613603
X-Linked Complicated Corpus Callosum Dysgenesis
Aganglionic megacolon ORPHA:1497
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mixed hypo- and hyperpigmentation of the skin, Hypermelanotic macule, Mottled pigmentation, Spott... ORPHA:79397
Oculogastrointestinal Muscular Dystrophy
Malabsorption, Abnormal gastric mucosa morphology, Abdominal distention, Abnormality of the gastr... ORPHA:1876
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon OMIM:235750
Tietz Albinism-Deafness Syndrome
White eyebrow, White eyelashes, Blue irides, Generalized hypopigmentation OMIM:103500
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect OMIM:619165
Thyroid Hemiagenesis
Abdominal distention, Constipation, Macroglossia ORPHA:95719
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Hypopigmentation of the skin OMIM:617294
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Aganglionic megacolon OMIM:235740
American Trypanosomiasis
Abdominal pain, Diarrhea, Achalasia, Aganglionic megacolon, Abnormal large intestine physiology ORPHA:3386
X-Linked Creatine Transporter Deficiency
Ileus, Constipation, Aganglionic megacolon, Athetosis, Dystonia ORPHA:52503
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Mixed hypo- and hyperpigmentation of the skin, Spotty hyperpigmentation, Hypermelanotic macule, S... ORPHA:79399
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Waardenburg Syndrome Type 1
Aganglionic megacolon, Cleft palate, Hypopigmentation of hair, White eyebrow, White eyelashes, He... ORPHA:894
Gemignani Syndrome
Hypopigmented skin patches ORPHA:2074
Hirschsprung Disease-Type D Brachydactyly Syndrome
Aganglionic megacolon ORPHA:2150
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Aganglionic megacolon ORPHA:2155
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair ORPHA:2786
Albinism-Deafness Syndrome
Heterochromia iridis, Irregular hyperpigmentation, Partial albinism, Piebaldism, Hypopigmented sk... ORPHA:998
Inflammatory Pseudotumor Of The Liver
Neoplasm of the liver, Abdominal distention, Abdominal pain, Vomiting, Nausea ORPHA:90003
Albinism-Deafness Syndrome
Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism OMIM:300700
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:89838
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Abdominal distention, Constipation, Macroglossia, Mottled pigmentation, Feeding difficulties in i... ORPHA:226313
Albinism, Oculocutaneous, Type Ii
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area... OMIM:203200
Congenital Enterocyte Heparan Sulfate Deficiency
Abdominal distention, Diarrhea, Protein-losing enteropathy, Hematochezia ORPHA:103910
Puerto Rican Infant Hypotonia Syndrome
High palate, Narrow palate, Abdominal distention, Constipation, Chronic constipation OMIM:600096
Corpus Callosum, Partial Agenesis Of, X-Linked
Aganglionic megacolon OMIM:304100
Malignant Peritoneal Mesothelioma
Ileus, Peritonitis, Abdominal distention, Abdominal pain ORPHA:168811
Waardenburg Syndrome, Type 4C
Aganglionic megacolon, Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White f... OMIM:613266
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin OMIM:610798
Visceral Myopathy 2
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Necrotizing enterocolitis, Intestinal ... OMIM:619350
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Ileus, Constipation, Aganglionic megacolon, Abdominal pain, Hypopigmentation of hair, Microcolon,... ORPHA:163746
Deafness, Congenital, With Vitiligo And Achalasia
Achalasia, Vitiligo OMIM:221350
Mitochondrial Neurogastrointestinal Encephalomyopathy
Gastroesophageal reflux, Decreased sensory nerve conduction velocity, Atrophic muscularis propria... ORPHA:298
Elejalde Neuroectodermal Melanolysosomal Syndrome
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... OMIM:256710
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Abdominal distention, Intestinal malrotation, Vomiting, Pyloric stenosis, Feeding difficulties in... OMIM:300048
Peritoneal Cystic Mesothelioma
Abdominal distention, Peritonitis, Constipation, Abdominal pain ORPHA:168816
Waardenburg Syndrome, Type 2A
Numerous pigmented freckles, Partial albinism, White eyebrow, Albinism, White eyelashes, Heteroch... OMIM:193510
Limited Cutaneous Systemic Sclerosis
Gastroesophageal reflux, Abnormality of skin pigmentation, Dysphagia, Nausea and vomiting, Hypopi... ORPHA:220402
Congenital Tufting Enteropathy
Anal atresia, Malabsorption, Elevated fecal osmolality, Abnormal large intestinal mucosa morpholo... ORPHA:92050
Distal 16P11.2 Microdeletion Syndrome
Chronic constipation, Aganglionic megacolon ORPHA:261222
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Feeding difficulti... ORPHA:177910
Hermansky-Pudlak Syndrome 1
Colitis, Ocular albinism, Abdominal pain, Hypopigmentation of the skin, Hypopigmentation of hair,... OMIM:203300
Anonychia With Flexural Pigmentation
Hypermelanotic macule, Axillary and groin hyperpigmentation and hypopigmentation ORPHA:69125
Aganglionosis, Total Intestinal
Total intestinal aganglionosis OMIM:202550
Wolman Disease
Abdominal distention, Hepatic failure, Steatorrhea, Esophageal varix, Malnutrition, Nausea and vo... ORPHA:75233
Anterior Cutaneous Nerve Entrapment Syndrome
Abdominal distention, Recurrent infection of the gastrointestinal tract, Allodynia, Abdominal pai... ORPHA:51890
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation OMIM:113750
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Torticollis, Ileus, Absent brainstem auditory responses, Short-segment aganglionic megacolon, Aga... OMIM:609136
Oculocutaneous Albinism Type 3
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... ORPHA:79433
Primary Effusion Lymphoma
Abdominal distention, Abdominal pain ORPHA:48686
L1 Syndrome
Nausea and vomiting, Aganglionic megacolon ORPHA:275543
Qazi-Markouizos Syndrome
Torticollis, Chronic constipation, Abdominal distention, High, narrow palate ORPHA:3010
Xeroderma Pigmentosum Variant
Hypopigmentation of the skin, Hyperpigmentation of the skin, Freckles in sun-exposed areas ORPHA:90342
Yemenite Deaf-Blind Hypopigmentation Syndrome
White forelock, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles OMIM:601706
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Constipation, Cleft palate, Feeding difficulties, Abnormal rectum morphology, Athetosis, Anterior... OMIM:239300
Permanent Congenital Hypothyroidism
Feeding difficulties, Abdominal distention, Constipation, Macroglossia ORPHA:226292
Cerebral Creatine Deficiency Syndrome 1
Ileus, Constipation, Aganglionic megacolon, Vomiting, Feeding difficulties in infancy, Dystonia OMIM:300352
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Abdominal distention, Feeding difficulties, Hepatic failure OMIM:618528
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Hypoperistalsis, Abdominal distention OMIM:619365
Haddad Syndrome
Gastroesophageal reflux, Aganglionic megacolon, Abnormal autonomic nervous system physiology ORPHA:99803
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation OMIM:106750
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Anal atresia, Abdominal distention, Intestinal malrotation, Optic disc coloboma, Rectovaginal fis... OMIM:270420
Dermotrichic Syndrome
Aganglionic megacolon ORPHA:99688
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Feeding difficulti... ORPHA:411515
X-Linked Lissencephaly With Abnormal Genitalia
Malabsorption, Exocrine pancreatic insufficiency, Aganglionic megacolon ORPHA:452
Microvillus Inclusion Disease
Villous atrophy, Diarrhea, Abdominal distention, Abnormality of small intestinal villus morphology ORPHA:2290
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Abdominal distention OMIM:174050
Central Hypoventilation Syndrome, Congenital, 1
Feeding difficulties, Abnormal autonomic nervous system physiology, Chronic constipation, Ineffec... OMIM:209880
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Generalized reticulate brown pigmentation, Spotty hyperpigmentation, Hyperpigmentation of the ski... ORPHA:158681
Mungan Syndrome
Barrett esophagus, Abdominal pain, Abnormality of the autonomic nervous system, Hypoperistalsis, ... OMIM:611376
Idiopathic Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90158
Oculocerebral Hypopigmentation Syndrome Of Preus
High palate, High, narrow palate, Generalized hypopigmentation OMIM:257790
Porphyria Due To Ala Dehydratase Deficiency
Constipation, Abdominal distention, Abdominal pain, Diarrhea, Episodic vomiting, Nausea, Increase... ORPHA:100924
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Feeding difficulties, Hypopigmentation of the skin, Poor suck, Hypopigmentation of hair, Iris hyp... ORPHA:98795
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Abnormal autonomic nervous system physiology OMIM:613870
Neuroblastoma, Susceptibility To, 2
Aganglionic megacolon OMIM:613013
Colonic Atresia
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abdominal distention, Intestinal malrotation, Abnormality of the gastrointestinal tract, Hypoperi... ORPHA:2241
Cartilage-Hair Hypoplasia
Malabsorption, Constipation, Fair hair, Anal stenosis, Esophageal atresia, Aganglionic megacolon OMIM:250250
Bresek Syndrome
Optic nerve hypoplasia, Aganglionic megacolon, Cleft palate ORPHA:85284
Congenital Central Hypoventilation Syndrome
Abnormality of the autonomic nervous system, Aganglionic megacolon ORPHA:661
Classic Phenylketonuria
Hypopigmentation of the skin, Tremor, Nausea and vomiting, Hypopigmentation of hair ORPHA:79254
Ring Chromosome 10 Syndrome
Aganglionic megacolon ORPHA:1438
Joubert Syndrome With Renal Defect
Tremor, Feeding difficulties, Aganglionic megacolon, Cleft palate ORPHA:220497
Folinic Acid-Responsive Seizures
Optic atrophy, Abdominal distention, Dystonia ORPHA:79097
Griscelli Syndrome Type 1
Partial albinism, Premature graying of hair, Iris hypopigmentation, White hair ORPHA:79476
Chylomicron Retention Disease
Abdominal distention, Steatorrhea, Diarrhea, Vomiting, Fat malabsorption ORPHA:71
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:614072
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Vomiting, Malnutrition, Hyperactive bowel sounds ORPHA:35710
Ovarian Fibroma
Peritonitis, Abdominal distention, Abdominal pain ORPHA:314473
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... ORPHA:79435
Alg3-Cdg
High palate, Decreased liver function, Macroglossia, Feeding difficulties, Hypopigmentation of th... ORPHA:79321
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Constipation, Feeding difficulties, Hypopigmentation of the skin, Poor suck, Hypopigmentation of ... ORPHA:98794
Joubert Syndrome
Feeding difficulties in infancy, Tremor, Aganglionic megacolon ORPHA:475
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Aganglionic megacolon ORPHA:2151
Goldberg-Shprintzen Megacolon Syndrome
Aganglionic megacolon, Cleft palate ORPHA:66629
Joubert Syndrome With Ocular Defect
Tremor, Feeding difficulties, Aganglionic megacolon, Cleft palate ORPHA:220493
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Iris... ORPHA:79434
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Gastroesophageal reflux, Constipation, Macroglossia, Optic atrophy, Feeding difficulties in infan... ORPHA:847
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Abdominal distention, Diarrhea, Vomiting, Protein-losing enteropathy OMIM:608104
Desmoplastic Small Round Cell Tumor
Ileus, Nausea and vomiting, Abdominal distention, Abdominal pain ORPHA:83469
Pitt-Hopkins Syndrome
Gastroesophageal reflux, Hiatus hernia, Constipation, Aganglionic megacolon, Feeding difficulties... ORPHA:2896
Al-Raqad Syndrome
Hypopigmentation of the skin OMIM:616459
Harrod Syndrome
High palate, High, narrow palate, Malrotation of small bowel, Pyloric stenosis, Aganglionic megac... OMIM:601095
Angelman Syndrome Due To A Point Mutation
Feeding difficulties, Hypopigmentation of the skin, Poor suck, Hypopigmentation of hair, Iris hyp... ORPHA:411511
Angelman Syndrome
Constipation, Blue irides, Fair hair, Macroglossia, Hypopigmentation of the skin, Feeding difficu... OMIM:105830
Meckel Syndrome, Type 8
Abdominal distention, Cleft palate OMIM:613885
Multiple Endocrine Neoplasia, Type Iib
High palate, Constipation, High, narrow palate, Diarrhea, Colonic diverticula, Aganglionic megacolon OMIM:162300
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Irregular hyperpigmentation, Generalized hypopigmentation ORPHA:1816
Familial Visceral Myopathy
Abdominal distention, Aganglionic megacolon, Cleft palate ORPHA:2604
Rhombencephalosynapsis
Anal atresia, Tracheoesophageal fistula, Septo-optic dysplasia, Esophageal atresia, Aganglionic m... ORPHA:59315
Spondylocostal Dysostosis 1, Autosomal Recessive
Abdominal distention, Protuberant abdomen OMIM:277300
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Hypopigmentation of the skin, Feeding difficulties ORPHA:261304
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Ocular albinism OMIM:601220
Oculocutaneous Albinism Type 2
Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Hypopigmentation of the sk... ORPHA:79432
Fryns Syndrome
High palate, Anal atresia, Ectopic anus, Duodenal atresia, Gastroesophageal reflux, Cleft palate,... ORPHA:2059
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatocellular carcinoma, Abdominal distention ORPHA:369
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71526
Gastrointestinal Stromal Tumor
Constipation, Gastrointestinal stroma tumor, Intestinal obstruction, Hyperpigmentation of the ski... OMIM:606764
Nephrotic Syndrome, Type 1
Pyloric stenosis, Abdominal distention, Gastroesophageal reflux OMIM:256300
Maternal Uniparental Disomy Of Chromosome X
Hypopigmentation of the skin, Hepatic failure ORPHA:261519
Thyroid Hypoplasia
Abdominal distention, Constipation, Macroglossia ORPHA:95720
Orofaciodigital Syndrome V
High palate, Cleft palate, Feeding difficulties, Bifid tongue, Bifid uvula, Lobulated tongue, Opt... OMIM:174300
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2251
Toriello-Lacassie-Droste Syndrome
Generalized hyperpigmentation, Aganglionic megacolon, Feeding difficulties ORPHA:3339
Ramos-Arroyo Syndrome
Abnormal autonomic nervous system physiology, Xerostomia, Feeding difficulties in infancy, Smooth... ORPHA:1051
Acrocephalopolydactyly
Protuberant abdomen ORPHA:221054
Infantile Sialic Acid Storage Disease
Hypopigmentation of the skin, Fair hair, High palate OMIM:269920
Hyperphosphatasia-Intellectual Disability Syndrome
High palate, Bifid uvula, Anteriorly placed anus, Gastrostomy tube feeding in infancy, Aganglioni... ORPHA:247262
Gaucher Disease, Type Ii
Dysphagia, Protuberant abdomen, Feeding difficulties OMIM:230900
Porphyria Variegata
Ileus, Constipation, Abnormal autonomic nervous system physiology, Abdominal pain, Hypopigmentati... ORPHA:79473
Oculocutaneous Albinism
Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ... ORPHA:55
Dysostosis Multiplex, Ain-Naz Type
Abdominal distention OMIM:619345
Dystonia, Juvenile-Onset
Leg dystonia, Pseudobulbar paralysis, Cleft palate, Oculogyric crisis, Dysphagia, Achalasia, Gene... OMIM:607371
Angelman Syndrome
Gastroesophageal reflux, Constipation, Fair hair, Feeding difficulties, Hypopigmentation of the s... ORPHA:72
Phenylketonuria
Fair hair, Blue irides, Generalized hypopigmentation OMIM:261600
Achalasia-Microcephaly Syndrome
Achalasia OMIM:200450
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal atresia, Anal stenosis, Aganglionic megacolon, Cleft palate OMIM:614749
Niemann-Pick Disease, Type A
Constipation, Vomiting, Athetosis, Feeding difficulties in infancy, Protuberant abdomen OMIM:257200
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Intestinal polyp, Lactose intolerance, Cafe-au-lait spot, Protuberant abdomen, Hypopigmented skin... ORPHA:457485
Down Syndrome
Anal atresia, Narrow palate, Macroglossia, Protruding tongue, Aganglionic megacolon ORPHA:870
Ovarian Fibrothecoma
Peritonitis, Abdominal distention, Abdominal pain ORPHA:314478
Pancreatoblastoma
Diarrhea, Abdominal distention, Vomiting, Abdominal pain ORPHA:677
Achondrogenesis, Type Ib
Abdominal distention OMIM:600972
Congenital Alveolar Capillary Dysplasia
Anal atresia, Intestinal malrotation, Tracheoesophageal fistula, Duodenal stenosis, Aganglionic m... ORPHA:210122
Oculocutaneous Albinism Type 1
Blue irides, Generalized hypopigmentation, Iris hypopigmentation, White eyebrow, White eyelashes,... ORPHA:352731
Oculocutaneous Albinism Type 1A
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, A... ORPHA:79431
Focal Facial Dermal Dysplasia Type I
Spotty hypopigmentation, Spotty hyperpigmentation ORPHA:79133
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Abdominal cramps, Malabsorption, Early satiety, Constipation, Allodynia, Abdominal pain, Diarrhea... OMIM:603041
Achondrogenesis Type 1A
Abdominal distention ORPHA:93299
Griscelli Syndrome Type 2
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation, Premature graying of hair, Nau... ORPHA:79477
Vici Syndrome
High palate, Abnormality of retinal pigmentation, Feeding difficulties, Hypopigmentation of the s... ORPHA:1493
Congenital Hypothyroidism
Constipation, Abdominal distention, Macroglossia, Tracheoesophageal fistula, Intestinal obstructi... ORPHA:442
Motor Neuropathy, Peripheral, With Dysautonomia
Achalasia, Orthostatic hypotension, Decreased nerve conduction velocity, Abnormal autonomic nervo... OMIM:252320
Multiple Endocrine Neoplasia Type 2
Neoplasm of the liver, Constipation, Abdominal distention, Diarrhea, Ganglioneuromatosis, Abnorma... ORPHA:653
Sea-Blue Histiocytosis
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:158029
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Ocular albinism OMIM:614171
Al Amyloidosis
Autonomic erectile dysfunction, Abdominal distention, Macroglossia, Abnormal autonomic nervous sy... ORPHA:85443
Metachromatic Leukodystrophy, Adult Form
Abdominal distention, Decreased nerve conduction velocity, Intention tremor, Orthostatic hypotens... ORPHA:309271
Primary Biliary Cholangitis
Abdominal distention, Hepatic failure, Orthostatic hypotension, Hepatocellular carcinoma, Hyperpi... ORPHA:186
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Malabsorption, Aganglionic megacolon, White hair ORPHA:935
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Lead Poisoning
Abdominal cramps, Constipation, Abdominal distention, Abdominal pain, Anorexia, Abnormality of th... ORPHA:330015
Alternating Hemiplegia Of Childhood
Constipation, Abdominal distention, Abnormal autonomic nervous system physiology, Anorexia, Diarr... ORPHA:2131
Acute Intermittent Porphyria
Ileus, Pseudobulbar paralysis, Constipation, Abdominal pain, Abdominal distention, Diarrhea, Hepa... ORPHA:79276
Gonadoblastoma
Abdominal distention, Abdominal pain ORPHA:206484
Triple A Syndrome
Optic atrophy, Achalasia, Generalized hyperpigmentation ORPHA:869
Liver Failure, Infantile, Transient
Feeding difficulties in infancy, Abdominal distention, Vomiting, Acute hepatic failure OMIM:613070
Microgastria-Limb Reduction Defects Association
Intestinal malrotation, Microgastria, Gastroesophageal reflux, Aganglionic megacolon OMIM:156810
Necrotizing Enterocolitis
Bloody diarrhea, Abdominal distention, Peritonitis, Diarrhea, Vomiting ORPHA:391673
Hyperekplexia 2
Gastroesophageal reflux, Exaggerated startle response, Hiatus hernia OMIM:614619
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Aganglionic megacolon, Cleft palate OMIM:308205
Joubert Syndrome With Oculorenal Defect
Aganglionic megacolon ORPHA:2318
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid tongue, Bifid uvula, Aganglionic megacolon, Cleft soft palate ORPHA:2919
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Achalasia ORPHA:2400
Hereditary Fructose Intolerance
Constipation, Abdominal distention, Abdominal pain, Diarrhea, Vomiting, Chronic hepatic failure, ... ORPHA:469
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin, Cafe-au-lait spot, Hypopigmentation of hair OMIM:618541
Moyamoya Disease 6 With Or Without Achalasia
Dysphagia, Achalasia OMIM:615750
Hermansky-Pudlak Syndrome
Malabsorption, Ocular albinism, Abdominal pain, Hypopigmentation of the skin, Anorexia, Hypopigme... ORPHA:79430
Diffuse Cutaneous Mastocytosis
Mixed hypo- and hyperpigmentation of the skin, Abdominal pain, Diarrhea, Vomiting, Malnutrition, ... ORPHA:79456
Gallbladder Neuroendocrine Tumor
Abdominal distention, Episodic abdominal pain, Anorexia, Nausea, Biliary tract neoplasm ORPHA:100086
Lipodystrophy, Familial Partial, Type 6
Hypopigmentation of the skin OMIM:615980
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Gastroesophageal reflux, Constipation, Exaggerated startle response, Blepharospasm, ... OMIM:608643
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Hypopigmented skin patches ORPHA:1825
Vogt-Koyanagi-Harada Disease
Poliosis, Premature graying of hair, Vitiligo, Hypopigmented skin patches ORPHA:3437
Celiac Disease, Susceptibility To, 1
Abdominal distention, Abdominal pain, Steatorrhea, Diarrhea, Vomiting, Stomatitis, Recurrent apht... OMIM:212750
Primary Hepatic Neuroendocrine Carcinoma
Neoplasm of the liver, Episodic abdominal pain, Abdominal distention, Anorexia, Diarrhea, Nausea ORPHA:100085
Fanconi Anemia
High palate, Anal atresia, Irregular hyperpigmentation, Aganglionic megacolon, Cleft palate, Trac... ORPHA:84
Odontotrichoungual-Digital-Palmar Syndrome
Hypopigmentation of the skin OMIM:601957
Donohue Syndrome
Abdominal distention, Hypermelanotic macule OMIM:246200
Metachromatic Leukodystrophy, Late Infantile Form
Abdominal distention, Decreased nerve conduction velocity, Optic atrophy, Feeding difficulties in... ORPHA:309256
Mirizzi Syndrome
Abdominal distention, Abdominal pain, Anorexia, Vomiting, Nausea, Abdominal colic ORPHA:521219
Metachromatic Leukodystrophy, Juvenile Form
Abdominal distention, Decreased nerve conduction velocity, Intention tremor, Optic atrophy, Dystonia ORPHA:309263
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Colitis, Abdominal distention, Abdominal pain, Steatorrhea, Di... ORPHA:309031
22Q11.2 Deletion Syndrome
Anal atresia, Gastroesophageal reflux, Constipation, Aganglionic megacolon, Cleft palate, Intesti... ORPHA:567
Pontocerebellar Hypoplasia, Type 7
High palate, Opisthotonus, Feeding difficulties, Hypopigmentation of the skin, Optic atrophy, Cho... OMIM:614969
Pediatric Systemic Lupus Erythematosus
Abdominal distention, Abdominal pain, Diarrhea, Abnormality of the gastrointestinal tract, Vomiting ORPHA:93552
Ovarian Hyperstimulation Syndrome
Nausea and vomiting, Nausea, Abdominal distention, Abdominal pain ORPHA:64739
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Protuberant abdomen OMIM:613330
Schimke Immuno-Osseous Dysplasia
Abdominal distention, Abnormal intestine morphology, Hypermelanotic macule, Multiple lentigines ORPHA:1830
Slc35A2-Cdg
Hypopigmentation of the skin, Gastroesophageal reflux, Nasogastric tube feeding, Feeding difficul... ORPHA:356961
Sepsis In Premature Infants
Decreased liver function, Abdominal distention, Enterocolitis, Diarrhea, Vomiting, Gastrointestin... ORPHA:90051
Duane-Radial Ray Syndrome
Anal atresia, Facial palsy, Anal stenosis, Aganglionic megacolon OMIM:607323
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abdominal distention OMIM:602557
Diarrhea 1, Secretory Chloride, Congenital
Diarrhea, Abdominal distention OMIM:214700
Chronic Actinic Dermatitis
Hypopigmented skin patches, Progressive hyperpigmentation ORPHA:330064
Smith-Lemli-Opitz Syndrome
Constipation, Gastroesophageal reflux, Cleft palate, Abdominal distention, Intestinal malrotation... OMIM:270400
Fanconi-Bickel Syndrome
Malabsorption, Poor appetite, Abdominal distention OMIM:227810
Classic Mycosis Fungoides
Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2584
Dowling-Degos Disease
Progressive reticulate hyperpigmentation, Mixed hypo- and hyperpigmentation of the skin, Inguinal... ORPHA:79145
Currarino Syndrome
Anal atresia, Abdominal distention, Anal fistula, Gastrointestinal obstruction, Anal stenosis, Re... OMIM:176450
Lysosomal Acid Lipase Deficiency
Hepatic failure, Steatorrhea, Acute hepatic failure, Diarrhea, Vomiting, Esophageal varix, Protub... OMIM:278000
Focal Facial Dermal Dysplasia Type Iii
Anal atresia, Multiple cafe-au-lait spots, Hypopigmented skin patches ORPHA:1807
Achalasia-Microcephaly Syndrome
Achalasia ORPHA:929
Cirrhosis, Familial
Abdominal distention, Fulminant hepatitis, Esophageal varix OMIM:215600
Smith-Lemli-Opitz Syndrome
Gastroesophageal reflux, Cleft palate, Hypopigmentation of hair, Bifid tongue, Optic atrophy, Pyl... ORPHA:818
Phakomatosis Pigmentovascularis
Generalized hyperpigmentation, Hypopigmented skin patches ORPHA:2875
Cartilage-Hair Hypoplasia
Malabsorption, Abnormality of retinal pigmentation, Aganglionic megacolon ORPHA:175
Ermine Phenotype
Irregular hyperpigmentation, Ocular albinism, Hypopigmentation of hair, Iris hypopigmentation, Hy... ORPHA:999
Multiple Endocrine Neoplasia, Type Iia
Aganglionic megacolon OMIM:171400
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, High, narrow palate, Aganglionic megacolon, High palate OMIM:209900
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
High, narrow palate, Hypopigmentation of hair, Iris hypopigmentation, Freckling, Hyperpigmentatio... ORPHA:3214
Immunodeficiency 70
Achalasia, Colitis, Celiac disease OMIM:618969
Autoimmune Polyendocrinopathy Type 2
Celiac disease, Hypopigmented skin patches ORPHA:3143
Combined Immunodeficiency-Enteropathy Spectrum
Bloody diarrhea, Abdominal distention, Intestinal atresia, Intestinal malrotation, Rectal abscess... ORPHA:436252
Chediak-Higashi Syndrome
Ocular albinism, Decreased nerve conduction velocity, Hypopigmentation of the skin, Hypopigmentat... OMIM:214500
Lysosomal Acid Lipase Deficiency
Decreased liver function, Abdominal distention, Feeding difficulties, Hepatic failure, Steatorrhe... ORPHA:275761
Naegeli-Franceschetti-Jadassohn Syndrome
Hypopigmentation of the skin, Generalized reticulate brown pigmentation, Reticulated skin pigment... ORPHA:69087
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Microcolon, Abdominal distention OMIM:619362
Lichen Planus Pemphigoides
Hypopigmented streaks ORPHA:254478
Platyspondylic Dysplasia, Torrance Type
Abdominal distention, Cleft palate ORPHA:85166
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of retinal pigmentation, Generalized hypopigmentation, Anorexia, Short hard palate, M... ORPHA:1969
Letterer-Siwe Disease
Stomatitis, Abdominal distention OMIM:246400
Goldberg-Shprintzen Syndrome
Aganglionic megacolon OMIM:609460
Young-Onset Parkinson Disease
Constipation, Abnormal autonomic nervous system physiology, Diarrhea, Tremor, Nausea, Gastropares... ORPHA:2828
Hermansky-Pudlak Syndrome 6
Hypopigmentation of the skin, Albinism, Ocular albinism OMIM:614075
Lichen Planopilaris
Abnormal intestine morphology, Hypopigmented skin patches ORPHA:525
Mismatch Repair Cancer Syndrome 1
Adenomatous colonic polyposis, Hypopigmentation of the skin, Axillary freckling, Adenocarcinoma o... OMIM:276300
Achondrogenesis, Type Ii
Abdominal distention, Cleft palate OMIM:200610
Peripheral Primitive Neuroectodermal Tumor
Torticollis, Abdominal distention, Episodic abdominal pain, Anorexia, Nausea and vomiting ORPHA:370348
Castleman Disease
Abdominal distention, Abdominal pain, Abnormality of the gastrointestinal tract, Intestinal obstr... ORPHA:160
Achalasia-Addisonianism-Alacrima Syndrome
Abnormal autonomic nervous system physiology, Orthostatic hypotension, Optic atrophy, Hyperpigmen... OMIM:231550
X-Linked Agammaglobulinemia
Glossoptosis, Malabsorption, Hypopigmented skin patches, Chronic diarrhea ORPHA:47
Thyroid Ectopia
Abdominal distention, Constipation, Macroglossia ORPHA:95712
Wilson Disease
Abdominal distention, Decreased nerve conduction velocity, Hand tremor, Hepatic failure, Acute he... OMIM:277900
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches, High, narrow palate ORPHA:53271
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Abdominal distention, Cleft palate, Hepatic failure, Protein-losing enteropathy OMIM:235255
Attenuated Chédiak-Higashi Syndrome
Ocular albinism, Generalized hypopigmentation ORPHA:352723
Crouzon Syndrome
Melanocytic nevus, Optic atrophy, Narrow palate, Hypopigmented skin patches ORPHA:207
Mckusick-Kaufman Syndrome
High palate, Anal atresia, Ectopic anus, Cleft palate, Aganglionic megacolon ORPHA:2473
Acrofacial Dysostosis 1, Nager Type
Velopharyngeal insufficiency, Aganglionic megacolon, Cleft palate OMIM:154400
Hartnup Disease
Glossitis, Malabsorption, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2116
Magel2-Related Prader-Willi-Like Syndrome
Gastroesophageal reflux, Feeding difficulties, Hypopigmentation of the skin, Poor suck, Xerostomi... ORPHA:398069
Menkes Disease
Hypopigmentation of the skin OMIM:309400
Large Congenital Melanocytic Nevus
Congenital giant melanocytic nevus, Abnormality of skin pigmentation, Hypopigmented skin patches ORPHA:626
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal neoplasm, Dyspepsia, Gastroesophageal reflux, Morphological abnormality of the gastroi... ORPHA:1018
Lymphatic Malformation 7
Abdominal distention OMIM:617300
Infantile Krabbe Disease
Gastroesophageal reflux, Decreased nerve conduction velocity, Opisthotonus, Feeding difficulties,... ORPHA:206436
Polyembryoma
Abdominal distention, Abdominal pain ORPHA:180229
Albinism, Oculocutaneous, Type Ia
Ocular albinism, Blue irides, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White... OMIM:203100
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Generalized reticulate brown pigmentation, Feeding difficulties, Hypopigmentation of the skin, De... ORPHA:79396
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Peritonitis, Abdominal distention, Ileal atresia, Microcolon OMIM:619351
Griscelli Syndrome
Silver-gray hair, Iris hypopigmentation, Pyloric stenosis, Premature graying of hair, Hypopigment... ORPHA:381
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Protuberant abdomen, Cleft palate OMIM:184250
Fibrochondrogenesis 2
Protuberant abdomen OMIM:614524
Down Syndrome
Anal atresia, Macroglossia, Protruding tongue, Brushfield spots, Duodenal stenosis, Aganglionic m... OMIM:190685
Developmental Malformations-Deafness-Dystonia Syndrome
Dysphagia, Achalasia, Macroglossia, Generalized dystonia ORPHA:79107
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Protuberant abdomen OMIM:617102
Combined Oxidative Phosphorylation Deficiency 53
Abdominal distention OMIM:619423
Fryns Syndrome
Anal atresia, Duodenal atresia, Cleft palate, Intestinal malrotation, Esophageal atresia, Agangli... OMIM:229850
Prader-Willi Syndrome
Hypopigmentation of the skin, Poor suck, Xerostomia, Hypopigmentation of hair, Vomiting, Nasogast... ORPHA:739
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hypopigmentation of the skin, High palate OMIM:236200
Schinzel-Giedion Syndrome
High palate, Hepatoblastoma, Macroglossia, Gastrostomy tube feeding in infancy, Anteriorly placed... ORPHA:798
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Head titubation, Tremor, Choreoathetosis, Dystonia, Gastroparesis, Bowel incontinence OMIM:618877
Mowat-Wilson Syndrome
Constipation, Abdominal distention, Cleft palate, Vomiting, Pyloric stenosis, Abnormality of ente... OMIM:235730
Acro-Renal-Ocular Syndrome
Aganglionic megacolon, Optic disc coloboma ORPHA:959
Fanconi-Bickel Syndrome
Hepatocellular carcinoma, Abdominal distention, Hepatic failure ORPHA:2088
Immunodeficiency 77
Gastroparesis OMIM:619223
Mckusick-Kaufman Syndrome
Anal atresia, Rectovaginal fistula, Aganglionic megacolon OMIM:236700
Intellectual Disability And Myopathy Syndrome
Cafe-au-lait spot, Spotty hypopigmentation OMIM:619719
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of the skin, Hypopigmentation of hair, Feeding difficulties in infancy, Iris hyp... ORPHA:98754
Bloom Syndrome
Recurrent gastroenteritis, Neoplasm of the colon, Esophageal neoplasm, Gastroesophageal reflux, S... ORPHA:125
Achalasia, Familial Esophageal
Achalasia, Xerostomia OMIM:200400
Epidermodysplasia Verruciformis
Multiple cafe-au-lait spots, Hypopigmented skin patches ORPHA:302
Hypomelanosis Of Ito
Macular hypopigmented whorls, streaks, and patches OMIM:300337
Junctional Epidermolysis Bullosa With Pyloric Atresia
Congenital pyloric atresia, Nausea and vomiting, Abdominal distention, Intestinal atresia ORPHA:79403
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of the skin, Hypopigmentation of hair, Feeding difficulties in infancy, Iris hyp... ORPHA:98793
Posterior Column Ataxia With Retinitis Pigmentosa
Decreased sensory nerve conduction velocity, Pigmentary retinopathy, Optic atrophy, Bone spicule ... OMIM:609033
Hermansky-Pudlak Syndrome 2
Ocular albinism, Gastroesophageal reflux, Fair hair, Generalized hypopigmentation, Albinism, Aber... OMIM:608233
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of the skin, Hypopigmentation of hair, Feeding difficulties in infancy, Iris hyp... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of the skin, Hypopigmentation of hair, Feeding difficulties in infancy, Iris hyp... ORPHA:177901
Oculocerebral Hypopigmentation Syndrome, Preus Type
High palate, Ocular albinism, Generalized hypopigmentation, Iris hypopigmentation, White hair ORPHA:2720
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Xerostomia, Nasogastric tube feeding ORPHA:398079
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Feeding difficulties OMIM:618367
Hepatocellular Carcinoma
Abdominal distention, Abdominal pain, Anorexia, Diarrhea, Abnormal rectum morphology, Esophageal ... ORPHA:88673
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Abdominal distention, Protein-losing enteropathy, Hepatic failure ORPHA:1655
Curry-Jones Syndrome
Intestinal malrotation, Hypopigmented skin patches, Optic disc coloboma ORPHA:1553
Eosinophilic Granulomatosis With Polyangiitis
Malabsorption, Gastroesophageal reflux, Abdominal pain, Intestinal obstruction, Dysphagia, Nausea... ORPHA:183
Galloway-Mowat Syndrome 1
High palate, Hiatus hernia, Feeding difficulties, Hypopigmentation of the skin, Optic atrophy, Dy... OMIM:251300
Syndromic Diarrhea
Bloody diarrhea, Colitis, Gastritis, Intractable diarrhea, Hepatoblastoma, Generalized hypopigmen... ORPHA:84064
Stiff-Person Syndrome
Vitiligo, Exaggerated startle response, Opisthotonus OMIM:184850
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Dysphagia, Achalasia OMIM:300858
Epidermolysis Bullosa Simplex With Pyloric Atresia
Congenital pyloric atresia, Abdominal distention, Vomiting ORPHA:158684
Epidermal Nevus Syndrome
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:35125
Severe Oculo-Renal-Cerebellar Syndrome
Optic atrophy, Choreoathetosis, Hypopigmented skin patches, Abnormality of retinal pigmentation ORPHA:2715
Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Feeding difficulties in infancy, Iris hyp... ORPHA:398073
Schimke Immunoosseous Dysplasia
Hypermelanotic macule, Protuberant abdomen OMIM:242900
Prader-Willi Syndrome
Tube feeding, Generalized hypopigmentation, Hypopigmentation of the skin, Poor suck, Hypopigmenta... OMIM:176270
Idiopathic Hypereosinophilic Syndrome
Malabsorption, Colitis, Abdominal distention, Abdominal pain, Vomiting, Feeding difficulties in i... ORPHA:3260
Prader-Willi Syndrome Due To Translocation
High palate, Stellate iris, Cleft palate, Hypopigmentation of the skin, Poor suck, Hypopigmentati... ORPHA:177907
Waardenburg Syndrome, Type 2E
Ocular albinism, Blue irides, Iris hypopigmentation, White eyebrow, White eyelashes, Heterochromi... OMIM:611584
Tetrasomy 18P
Achalasia ORPHA:3307
Sotos Syndrome
Constipation, Gastroesophageal reflux, Feeding difficulties, Hypopigmentation of the skin, Tremor... ORPHA:821
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Protuberant abdomen OMIM:151210
Vici Syndrome
Ocular albinism, Cleft palate, Hypopigmentation of the skin, Hypopigmentation of hair, Albinism OMIM:242840
Mosaic Trisomy 8
Hypopigmentation of the skin, High palate, Hypopigmented skin patches, Cleft palate ORPHA:96061
Rothmund-Thomson Syndrome Type 1
Hypopigmentation of the skin, Diarrhea, Vomiting, Nasogastric tube feeding, Hyperpigmentation of ... ORPHA:221008
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Rothmund-Thomson Syndrome Type 2
High palate, Cleft palate, Hypopigmentation of the skin, Diarrhea, Vomiting, Nasogastric tube fee... ORPHA:221016
Systemic Sclerosis
Intestinal bleeding, Gastroesophageal reflux, Irregular hyperpigmentation, Abnormal stomach morph... ORPHA:90291
Chédiak-Higashi Syndrome
Decreased liver function, Spotty hyperpigmentation, Abnormality of retinal pigmentation, Decrease... ORPHA:167
Meckel Syndrome 14
Abdominal distention, Protuberant abdomen OMIM:619879
Porphyria Cutanea Tarda
Hypopigmentation of the skin, Increased fecal porphyrin, Hepatocellular carcinoma, Hyperpigmentat... ORPHA:101330
Hypothyroidism, Congenital, Nongoitrous, 2
Feeding difficulties in infancy, Abdominal distention, Constipation, Macroglossia OMIM:218700
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Gastroesophageal reflux, Facial palsy, Gastroparesis, Constipation OMIM:610131
Acrofrontofacionasal Dysostosis
High palate, Hypopigmented skin patches, Brushfield spots, Cleft palate ORPHA:1784
Xeroderma Pigmentosum, Complementation Group C
Hypopigmentation of the skin OMIM:278720
Sialuria
High palate, Protuberant abdomen OMIM:269921
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abdominal distention, Hypopigmentation of the skin, Anorexia, Xerostomia, Diarrhea, Hyperpigmenta... ORPHA:95455
Rothmund-Thomson Syndrome
Reticular hyperpigmentation, Hypopigmentation of the skin, Diarrhea, Vomiting, Nasogastric tube f... ORPHA:2909
Sandhoff Disease
Episodic abdominal pain, Exaggerated startle response, Macroglossia, Orthostatic hypotension, Chr... OMIM:268800
Hereditary Spherocytosis
Abdominal distention, Abdominal pain ORPHA:822
Buschke-Ollendorff Syndrome
Generalized hypopigmentation ORPHA:1306
Localized Scleroderma
Gastroesophageal reflux, Vitiligo, Hyperpigmentation of the skin, Esophagitis, Hypopigmented skin... ORPHA:90289
Fraser Syndrome 2
Abdominal distention OMIM:617666
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Achalasia ORPHA:436174
Schimmelpenning-Feuerstein-Mims Syndrome
Hypopigmentation of the skin OMIM:163200
Schneckenbecken Dysplasia
Protuberant abdomen, Cleft palate OMIM:269250
Scleromyxedema
Dysphagia, Hypoperistalsis, Abnormality of the gastrointestinal tract, Gastroesophageal reflux ORPHA:167635
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Gastroesophageal reflux, Feeding difficulties, Small intestinal dysmotility, Gastrostomy tube fee... OMIM:619482
Scleroderma
Intestinal bleeding, Irregular hyperpigmentation, Gastroesophageal reflux, Abnormal stomach morph... ORPHA:801
Diaphanospondylodysostosis
Protuberant abdomen, Cleft palate OMIM:608022
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abdominal distention ORPHA:93352
Lethal Kniest-Like Dysplasia
Protuberant abdomen, Cleft palate ORPHA:2347
Hereditary Bullous Dystrophy, Macular Type
Spotty hypopigmentation, Hyperpigmentation of the skin ORPHA:1867
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hypopigmentation of the skin, Chronic constipation, Cleft palate OMIM:301066
Thanatophoric Dysplasia, Type I
Protuberant abdomen OMIM:187600
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Torticollis, High palate, Isometric tremor, Constipation, High, narrow palate, Abdominal pain, Fe... OMIM:619475
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Protuberant abdomen OMIM:264700
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Achalasia, Exocrine pancreatic insufficiency, Celiac disease, Abnormal intestine morphology OMIM:615952
Attrv122I Amyloidosis
Abnormality of enteric nervous system morphology, Abnormal autonomic nervous system physiology ORPHA:85451
Glycogen Storage Disease Ia
Intermittent diarrhea, Hepatocellular carcinoma, Protuberant abdomen OMIM:232200
Mucopolysaccharidosis Type 3
Malabsorption, Constipation, Macroglossia, Pigmentary retinopathy, Optic atrophy, Intermittent di... ORPHA:581
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Optic disc pallor, Exaggerated startle response OMIM:609541
Vitamin D-Dependent Rickets, Type 2A
Protuberant abdomen OMIM:277440
Trichohepatoenteric Syndrome 1
Intractable diarrhea, Generalized hypopigmentation, Hepatic failure, Bifid uvula, Villous atrophy... OMIM:222470
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Aganglionic megacolon, Feeding difficulties ORPHA:2273
Degcags Syndrome
High palate, Gastroesophageal reflux, Hiatus hernia, Intestinal atresia, Feeding difficulties, Hy... OMIM:619488
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Exaggerated startle response ORPHA:320406
Waardenburg Syndrome, Type 1
Blue irides, Partial albinism, White eyebrow, White eyelashes, Heterochromia iridis, White forelo... OMIM:193500
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Mosaic Trisomy 20
Chronic constipation, Hypopigmented streaks, Cleft palate, Depigmentation/hyperpigmentation of skin ORPHA:1724
Arboleda-Tham Syndrome
Gastroesophageal reflux, Cleft palate, Feeding difficulties, Intestinal malrotation, Optic atroph... OMIM:616268
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Anal atresia, Abdominal distention OMIM:271520
Fibrochondrogenesis 1
Protuberant abdomen, Cleft palate OMIM:228520
Harrod Syndrome
High palate, Hypopigmented skin patches ORPHA:2115
Kindler Syndrome
Spotty hyperpigmentation, Anal stenosis, Esophageal stenosis, Dysphagia, Spotty hypopigmentation,... OMIM:173650
Mucolipidosis Ii Alpha/Beta
Hypopigmentation of the skin, Protuberant abdomen, Macroglossia OMIM:252500
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Hypopigmented skin patches ORPHA:1295
Neu-Laxova Syndrome 2
High palate, Protuberant abdomen, Cleft palate OMIM:616038
Mowat-Wilson Syndrome
Constipation, Enterocolitis, Aganglionic megacolon, Cleft palate, Dependency on intravenous nutri... ORPHA:2152
Glycogen Storage Disease Ib
Hepatocellular carcinoma, Protuberant abdomen, Inflammation of the large intestine OMIM:232220
Ruvalcaba Syndrome
Hypopigmented skin patches ORPHA:3121
Kniest-Like Dysplasia, Lethal
Protuberant abdomen, Cleft palate OMIM:245190
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Spotty hypopigmentation OMIM:300860
Bloom Syndrome
Hypopigmentation of the skin, Cafe-au-lait spot, Spotty hypopigmentation OMIM:210900
Cleft Palate, Cardiac Defects, And Mental Retardation
Feeding difficulties, Achalasia, Gastroesophageal reflux, Cleft palate OMIM:600987
Proximal Spinal Muscular Atrophy
Facial diplegia, Constipation, Gastroesophageal reflux, Poor suck, Dysphagia, Gastroparesis ORPHA:70
Autoimmune Polyendocrinopathy Type 1
Hypopigmented skin patches ORPHA:3453
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Constipation, Aganglionic megacolon, Cleft palate, Episodic vomiting, Submucous cleft of soft and... ORPHA:261537
X-Linked Acrogigantism
Abdominal distention ORPHA:300373
Hurler Syndrome
Protuberant abdomen, Macroglossia OMIM:607014
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Dysphagia, Facial palsy, Gastroparesis, Resting tremor OMIM:157640
Intellectual Disability-Alacrima-Achalasia Syndrome
Dysphagia, Achalasia ORPHA:289483
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Enterocolitis, Diarrhea, Hepatocellular carcinoma, Hepatocellular adenoma, Inflammation of the la... ORPHA:79259
Liver Disease, Severe Congenital
Chronic gastritis, Exocrine pancreatic insufficiency, Abdominal distention, Feeding difficulties,... OMIM:619991
Glycine Encephalopathy With Normal Serum Glycine
Dysphagia, Optic atrophy, Exaggerated startle response OMIM:617301
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
High palate, Dystonia, Exaggerated startle response, Feeding difficulties in infancy ORPHA:438216
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Constipation, Aganglionic megacolon, Cleft palate, Episodic vomiting, Submucous cleft of soft and... ORPHA:261552
Porphyria, Congenital Erythropoietic
Hypopigmentation of the skin, Hyperpigmentation of the skin OMIM:263700
Pemphigus Erythematosus
Hypopigmented skin patches ORPHA:79480
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
High palate, Exaggerated startle response, Feeding difficulties, Poor suck, Optic atrophy, Dysphagia OMIM:617527
Asparagine Synthetase Deficiency
Exaggerated startle response, Feeding difficulties OMIM:615574
Short Rib-Polydactyly Syndrome
Intestinal malrotation, Protuberant abdomen, Gastrointestinal atresia, Cleft palate ORPHA:1505
Plaa-Associated Neurodevelopmental Disorder
High palate, Exaggerated startle response, Impaired oropharyngeal swallow response, Feeding diffi... ORPHA:521426
Tay-Sachs Disease
Exaggerated startle response, Laryngeal dystonia, Gastrostomy tube feeding in infancy, Optic atro... ORPHA:845
Short-Rib Thoracic Dysplasia 12
Intestinal malrotation, Lobulated tongue, Hamartoma of tongue, Median cleft lip and palate, Protu... OMIM:269860
Achondrogenesis, Type Ia
Protruding tongue, Protuberant abdomen OMIM:200600
Kasabach-Merritt Syndrome
Abdominal distention, Hepatic hemangioma, Abdominal pain ORPHA:2330
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Multisystemic Smooth Muscle Dysfunction Syndrome
Intestinal malrotation, Hypoperistalsis OMIM:613834
Koolen-De Vries Syndrome Due To A Point Mutation
Fair hair, Feeding difficulties, Hypopigmentation of the skin, Optic atrophy, Vitiligo, Nasogastr... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Fair hair, Feeding difficulties, Hypopigmentation of the skin, Optic atrophy, Vitiligo, Nasogastr... ORPHA:363958
Hypocalcemic Vitamin D-Dependent Rickets
Protuberant abdomen ORPHA:289157
Viss Syndrome
High palate, Chronic gastritis, Gastroesophageal reflux, High, narrow palate, Macroglossia, Abdom... OMIM:619472
Dyskeratosis Congenita
Malabsorption, Hypermelanotic macule, Hepatic failure, Tracheoesophageal fistula, Esophageal sten... ORPHA:1775
Oculocerebrocutaneous Syndrome
Hypopigmented skin patches ORPHA:1647
Atelosteogenesis Type Ii
Bilateral cleft palate, Cleft palate, Protuberant abdomen ORPHA:56304
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Feeding difficulties, Athetosis, Tremor, Esophagitis, Achalasia, Dystonia OMIM:615356
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Cystinosis, Nephropathic
Exocrine pancreatic insufficiency, Retinal pigment epithelial mottling, Hypopigmentation of the s... OMIM:219800
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Intestinal pseudo-obstruction, Gastroparesis ORPHA:70595
Proteasome-Associated Autoinflammatory Syndrome 1
Macroglossia, Hyperpigmentation of the skin, Premature graying of hair, Chronic constipation, Pro... OMIM:256040
Dyggve-Melchior-Clausen Disease
Protuberant abdomen ORPHA:239
Gapo Syndrome
Optic atrophy, Hypopigmented skin patches ORPHA:2067
Duane Retraction Syndrome
Irregular hyperpigmentation, Blepharospasm, Cleft palate, Anorectal anomaly, Patchy hypopigmentat... ORPHA:233
Opsismodysplasia
Protuberant abdomen OMIM:258480
Hepatoerythropoietic Porphyria
Hypopigmentation of the skin, Increased fecal porphyrin, Hyperpigmentation of the skin ORPHA:95159
Leprechaunism
Rectal prolapse, Abdominal distention, Megarectum ORPHA:508
Mucolipidosis Type Ii
Gastrostomy tube feeding in infancy, Protuberant abdomen, White hair ORPHA:576
Alacrima, Achalasia, And Mental Retardation Syndrome
Feeding difficulties, Orthostatic hypotension, Esophageal stenosis, Dysphagia, Achalasia OMIM:615510
Chromomycosis
Hypopigmented skin patches ORPHA:182
Atelosteogenesis, Type I
Protuberant abdomen, Cleft palate OMIM:108720
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Chops Syndrome
Gastroesophageal reflux, Constipation, High, narrow palate, Optic atrophy, Gastroparesis OMIM:616368
Hereditary Acrokeratotic Poikiloderma
Irregular hyperpigmentation, Xerostomia, Abnormality of the gastrointestinal tract, Ankyloglossia... ORPHA:2907
Mirage Syndrome
Esophageal stricture, Achalasia, Gastroesophageal reflux, Chronic diarrhea OMIM:617053
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Tube feeding, Protuberant abdomen, Feeding difficulties OMIM:619479
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Intention tremor, Tremor, Gastroparesis OMIM:614052
Autosomal Dominant Progressive External Ophthalmoplegia
Facial diplegia, Constipation, Gastroesophageal reflux, Resting tremor, Tremor, Dysphagia, Facial... ORPHA:254892
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Multiple cafe-au-lait spots, Hypopigmented skin patches ORPHA:2637
Focal Dermal Hypoplasia
Reticular hyperpigmentation, Hiatus hernia, Cleft palate, Hypopigmentation of the skin, Intestina... OMIM:305600
Weill-Marchesani Syndrome 2
High palate, Narrow palate, Protuberant abdomen OMIM:608328
Congenital Erythropoietic Porphyria
Hypopigmentation of the skin, Hyperpigmentation of the skin, Increased fecal coproporphyrin 1, In... ORPHA:79277
Mgat2-Cdg
Gastrostomy tube feeding in infancy, Gastroparesis, Gastroesophageal reflux, Feeding difficulties ORPHA:79329
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Generalized hypopigmentation, Intestinal malrotation, Optic nerve hypoplasia, Optic atrophy, Clef... OMIM:619321
Microphthalmia, Syndromic 1
High palate, Anal atresia, High, narrow palate, Optic disc coloboma, Pyloric stenosis, Rectal pro... OMIM:309800
Oculocerebrorenal Syndrome Of Lowe
Malabsorption, Narrow palate, Constipation, Gastroesophageal reflux, Generalized hypopigmentation... ORPHA:534
Eec Syndrome
Xerostomia, Cleft palate, Generalized hypopigmentation ORPHA:1896
Blomstrand Lethal Chondrodysplasia
Protruding tongue, Protuberant abdomen ORPHA:50945
Cowden Syndrome
High palate, Macroglossia, Furrowed tongue, Colorectal polyposis, Melanocytic nevus, Multiple caf... ORPHA:201
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Fair hair, Blue irides, Cleft palate, Generalized hypopigmentation, Absence of Stensen duct, Xero... OMIM:604292
Xeroderma Pigmentosum
Hypermelanotic macule, Optic atrophy, Freckling, Melanocytic nevus, Hypopigmented skin patches ORPHA:910
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Constipation, High, narrow palate, Cleft palate, Macroglossia, Optic nerve hypoplasia, Episodic v... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Constipation, High, narrow palate, Cleft palate, Macroglossia, Optic nerve hypoplasia, Episodic v... ORPHA:352665
Cranioectodermal Dysplasia 1
High palate, Protuberant abdomen, High, narrow palate, Hepatic failure OMIM:218330
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Dysphagia, Intestinal pseudo-obstruction, Gastroparesis, Retinal pigment epithelial mottling OMIM:607459
Short Stature With Microcephaly And Distinctive Facies