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Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence
AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME
agenesis of the corpus callosum with peripheral neuropathy
allergic cutaneous vasculitis +
Ankyloblepharon Filiforme Adnatum
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma
asthma, nasal polyps, and aspirin intolerance
Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects
Ausems Wittebol-Post Hennekam Syndrome
autoimmune disease of skin and connective tissue +
Baraitser Rodeck Garner syndrome
Baraitser-Winter syndrome +
Ben Ari Shuper Mimouni Syndrome
Boudhina Yedes Khiari syndrome
Brachydactyly, Coloboma, and Anterior Segment Dysgenesis
Calloso-Genital Dysplasia
central nervous system lipoma +
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED
Chudley-Mccullough syndrome
Cleft Lip with or without Cleft Palate, Nonsyndromic, 7
Cleft Lip with or without Cleft Palate, Nonsyndromic, 8
Cleft Lip, Congenital Healed
cleft palate, cardiac defects, and intellectual disabillity
Coloboma of Alar-Nasal Cartilages with Telecanthus
Coloboma of Macula and Skeletal Anomalies
Coloboma of Macula Type B Brachydactyly
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
combined oxidative phosphorylation deficiency 2
contagious pustular dermatitis
corpus callosum agenesis-abnormal genitalia syndrome
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA
Craniosynostosis Mental Retardation Clefting Syndrome
Curatolo Cilio Pessagno Syndrome
cutaneous lupus erythematosus +
Duker Weiss Siber syndrome
Duplication of Eyebrows with Stretchable Skin and Syndactyly
Ectodermal Dysplasia-Skin Fragility Syndrome
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Eczematous Skin Diseases +
Elastosis Perforans Serpiginosa
Elliott Ludman Teebi Syndrome
endometriosis in scar of skin
erythematosquamous dermatosis
external auditory meatus lipoma
extrahepatic bile duct lipoma
Facial Ectodermal Dysplasia
Familial Multiple Lipomatosis
Faye-Petersen Ward Carey Syndrome
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES
granulomatosis with polyangiitis +
Hay Wells Syndrome Recessive Type
Hereditary Macular Coloboma
hereditary spastic paraplegia 11
Hernandez Fragoso Syndrome
Hittner Hirsch Kreh Syndrome
Holzgreve-Wagner-Rehder syndrome
hypertelorism, microtia, facial clefting syndrome
Hypodontia Oligodontia with Orofacial Cleft
Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum
Hypoplastic Thumb with Choroid Coloboma, Poorly Developed Antihelix, and Deafness
Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss
Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/Palate
Infectious Skin Diseases +
internal auditory canal lipoma
Isolated Microphthalmia with Coloboma +
Kallmann Syndrome 2 with Cleft Lip or Palate
Kozlowski Ouvrier Syndrome
Lipoma of the Conjunctiva
Lipomatous Hemangiopericytoma
Lissencephaly and Agenesis of Corpus Callosum
Macroepiphyseal Dysplasia, McAlister Coe Type
Macrosomia Obesity Macrocephaly Ocular Abnormalities
Marles Greenberg Persaud Syndrome
Martinez Monasterio Pinheiro Syndrome
McPherson Clemens Syndrome
Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps
Mental Retardation, Joint Hypermobility, and Skin Laxity, with or without Metabolic Abnormalities
Metabolic Skin Diseases +
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate
Microphthalmia and Mental Deficiency
Microphthalmia Associated with Colobomatous Cyst
Microphthalmia, Cataracts, and Iris Abnormalities
Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma
multicentric reticulohistiocytosis
multiple cutaneous and mucosal venous malformations
Nasopalpebral Lipoma Coloboma Syndrome
Necrolytic Migratory Erythema
Nephrogenic Fibrosing Dermopathy
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM
noninfectious dermatoses of eyelid +
Papulosquamous Skin Diseases +
Partial Agenesis of Corpus Callosum
Partial Agenesis of Corpus Callosum, X-Linked
photosensitivity disease +
popliteal pterygium syndrome +
reactive cutaneous fibrous lesion +
Recurrent Spontaneous Hypothermia with Hypoplasia of the Corpus Callosum
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension
Rosselli-Gulienetti Syndrome
Roy Maroteaux Kremp Syndrome
sebaceous gland disease +
Selective Tooth Agenesis with Orofacial Cleft
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting
Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features
syndromic microphthalmia 14
Thrombocytopenia Robin Sequence
uveal coloboma-cleft lip and palate-intellectual disability
verruciform xanthoma of skin
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| Synonyms |
| Exact Synonyms: |
Cleft, median, of upper lip with polyps of facial skin and nasal mucosa
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Pai Levkoff syndrome
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Pai syndrome
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| Primary IDs: |
MESH:C536135
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| Alternate IDs: |
RDO:0001583 |
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