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Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia
Al Gazali Sabrinathan Nair Syndrome
Ankyloblepharon Filiforme Adnatum
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Aphalangia Syndactyly Microcephaly
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development
Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects
Bagatelle Cassidy syndrome
Bainbridge-Ropers Syndrome
Bamforth-Lazarus syndrome
Baraitser Rodeck Garner syndrome
Basel-Vanagaite-Smirin-Yosef syndrome
Beaulieu-Boycott-Innes Syndrome
blepharocheilodontic syndrome +
Blepharophimosis with Ptosis, Syndactyly, and Short Stature
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Brachycephaly, Trichomegaly, and Developmental Delay
brachydactyly-syndactyly syndrome
Cenani-Lenz syndactyly syndrome
Cerebellar Atrophy with Seizures and Variable Developmental Delay
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES
Cerebellofaciodental Syndrome
Chitayat Moore Del Bigio Syndrome
Chitty Hall Webb Syndrome
Chondrodysplasia, Megarbane-Dagher-Melki Type
chromosome 13q14 deletion syndrome
chromosome 17p13.3 duplication syndrome
chromosome 3q29 microdeletion syndrome
chromosome Xp11.23-p11.22 duplication syndrome
Cleft Lip with or without Cleft Palate, Nonsyndromic, 7
cleft lip-palate-ectodermal dysplasia syndrome
Cleft Palate with Ankyloglossia
Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly
cleft palate, cardiac defects, and intellectual disabillity
Cleft Palate, Deafness, and Oligodontia
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss
Cleft Palate, Proliferative Retinopathy, and Developmental Delay
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features
Coloboma of Macula and Skeletal Anomalies
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder
congenital heart defects, hamartomas of tongue, and polysyndactyly
Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies
Congenital Symmetric Circumferential Skin Creases +
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
Craniosynostosis Mental Retardation Clefting Syndrome
Crumpled Helices and Small Mouth
Der Kaloustian Mcintosh Silver Syndrome
Developmental Delay with or without Dysmorphic Facies and Autism
DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
Diamond-Blackfan Anemia with Microtia and Cleft Palate
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
distal arthrogryposis type 3
Duplication of Eyebrows with Stretchable Skin and Syndactyly
Dyskinesias, Seizures, and Intellectual Developmental Disorder
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Ectodermal Dysplasia, Mental Retardation, Syndactyly
Ectodermal Dysplasia-Syndactyly Syndrome +
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Ectrodactyly-Cleft Palate Syndrome
EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly
Faciocardiorenal Syndrome
Familial Lissencephaly with Cleft Palate and Cerebellar Hypoplasia
Feingold Trainer Syndrome
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome
Forsythe-Wakeling Syndrome
Frints De Smet Fabry Fryns Syndrome
Genito Palato Cardiac Syndrome
GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine
Green Sandford Davison Syndrome
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death
Grubben de Cock Borghgraef Syndrome
Hay Wells Syndrome Recessive Type
Heyn-Sproul-Jackson Syndrome
Ho Kaufman Mcalister Syndrome
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate
Holzgreve-Wagner-Rehder syndrome
hypermethioninemia due to adenosine kinase deficiency
hypertelorism, microtia, facial clefting syndrome
Hypodontia Oligodontia with Orofacial Cleft
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/Palate
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA
Kallmann Syndrome 2 with Cleft Lip or Palate
Kozlowski-Krajewska Syndrome
Ladda Zonana Ramer syndrome
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME
Macrosomia with Lethal Microphthalmia
Martinez Monasterio Pinheiro Syndrome
McPherson Clemens Syndrome
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate
MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
microcephaly, seizures, and developmental delay
Microtia, Hearing Impairment, and Cleft Palate
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay
Multiple Epiphyseal Dysplasia with Robin Phenotype
Naguib-Richieri-Costa Syndrome
Non-Lissencephalic Cortical Dysplasia
Obesity, Hyperphagia, and Developmental Delay
oculodentodigital dysplasia +
Oculopalatocerebral Syndrome
Oliver-McFarlane syndrome
Omphalocele, Cleft Palate Syndrome Lethal
Opitz GBBB syndrome type I
OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME
Osteosclerotic Metaphyseal Dysplasia
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES
Palant Cleft Palate Syndrome
Partington Anderson Syndrome
Pavone Fiumara Rizzo Syndrome
Periventricular Laminar Heterotopia
Periventricular Nodular Heterotopia 2
Periventricular Nodular Heterotopia 3
Periventricular Nodular Heterotopia 4
Periventricular Nodular Heterotopia 5
Periventricular Nodular Heterotopia 6
Periventricular Nodular Heterotopia 7 A neurologic disorder characterized by abnormal neuronal migration during brain development resulting in delayed psychomotor development and intellectual disability. (OMIM)
Periventricular Nodular Heterotopia 8
Periventricular Nodular Heterotopia 9
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia
Pfeiffer Rockelein Syndrome
Piepkorn Karp Hickok syndrome
popliteal pterygium syndrome +
Postaxial Polydactyly, Type A4
Radio-Ulnar Synostosis Type 1
Radio-Ulnar Synostosis Type 2
Rajab Interstitial Lung Disease with Brain Calcifications +
Reardon Hall Slaney syndrome
Refsum Disease with Increased Pipecolic Acidemia
Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay
Roifman-Chitayat Syndrome
Rosselli-Gulienetti Syndrome
Schrander-Stumpel Theunissen Hulsmans Syndrome
Selective Tooth Agenesis with Orofacial Cleft
Seres-Santamaria Arimany Muniz Syndrome
Short Stature, Developmental Delay, and Congenital Heart Defects
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
Snijders Blok-Fisher Syndrome
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation
Stapes Ankylosis with Broad Thumbs and Toes
Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay
succinic semialdehyde dehydrogenase deficiency
Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction
Syndactyly-Polydactyly-Earlobe Syndrome
syndactyly-telecanthus-anogenital and renal malformations syndrome
tarsal-carpal coalition syndrome +
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities
Trueb Burg Bottani Syndrome
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia
uveal coloboma-cleft lip and palate-intellectual disability
Winter Shortland Temple Syndrome
X-linked cleft palate with or without ankyloglossia
Zadik Barak Levin Syndrome
Zerres Rietschel Majewski Syndrome
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