|
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,XY Partial Gonadal Dysgenesis, with Minifascicular Neuropathy
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations
Al Gazali Aziz Salem Syndrome
Al Gazali Hirschsprung Syndrome
Alopecia Universalis Congenita, XY Gonadal Dysgenesis, and Laryngomalacia
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation
Axenfeld-Rieger syndrome type 1
Baraitser-Winter syndrome +
Beaulieu-Boycott-Innes Syndrome
Beemer Ertbruggen Syndrome
blepharophimosis-intellectual disability syndrome, SBBYS type
Bothnia retinal dystrophy
Boucher-Neuhauser syndrome
Brachycephaly, Trichomegaly, and Developmental Delay
Brachytelephalangy Characteristic Facies Kallmann
Cardioacrofacial Dysplasia +
cardiofaciocutaneous syndrome +
Cardiofacioneurodevelopmental Syndrome
cerebellofaciodental syndrome
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
Chondrodysplasia, Megarbane-Dagher-Melki Type
chromosome 17q11.2 deletion syndrome
chromosome 5p13 duplication syndrome
Chromosome Xq28 Duplication Syndrome
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features
cold-induced sweating syndrome +
Combined Pituitary Hormone Deficiency, 1
congenital adrenal insufficiency
Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation
Congenital Micromelic Dysplasia with Dislocation of Radius +
congenital structural myopathy +
Cortical Blindness, Retardation, and Postaxial Polydactyly
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism
Cree Mental Retardation Syndrome
Crumpled Helices and Small Mouth
Cubitus Valgus with Mental Retardation and Unusual Facies
Cyprus Facial Neuromusculoskeletal Syndrome
Deafness-Craniofacial Syndrome
Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease
Der Kaloustian Mcintosh Silver Syndrome
DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES
DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions
distal 10q deletion syndrome
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies
dominant pericentral pigmentary retinopathy
dystrophies primarily involving the retinal pigment epithelium +
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features
Ectrodactyly Cardiopathy Dysmorphism
Edinburgh Malformation Syndrome
Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification
Faciocardiomelic Syndrome
Feingold Trainer Syndrome
Genito Palato Cardiac Syndrome
Ghose Sachdev Kumar Syndrome
Gingival Fibromatosis with Distinctive Facies
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy GDRM is characterized by 46,XY complete gonadal dysgenesis in association with extragonadal anomalies, including low birth weight, typical facial gestalt, rod and cone dystrophy, sensorineural hearing loss, omphalocele, anal atresia, renal agenesis, skeletal abnormalities, dry and scaly skin, severe myopathy, and neuromotor delay. GDRM is caused by homozygous mutation in the PPP2R3C gene on chromosome 14q13. (OMIM)
Gonadal Dysgenesis, XY Type, with Associated Anomalies
Growth Deficiency and Mental Retardation with Facial Dysmorphism
Growth Mental Deficiency Syndrome of Myhre
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death
Haspeslagh Fryns Muelenaere Syndrome
hereditary retinal dystrophy +
hereditary spastic paraplegia 23
Hypotonia, Seizures, and Precocious Puberty
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies +
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES
INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES
Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies
Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES
Iris Dysplasia Hypertelorism Deafness
Kaufman oculocerebrofacial syndrome
Kennerknecht Vogel Syndrome
Kozlowski Rafinski Klicharska Syndrome
Kozlowski-Krajewska Syndrome
Lymphedema, Cardiac Septal Defects, and Characteristic Facies
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION
macrocephaly-autism syndrome
Malocclusion and Short Stature
Marfanoid Mental Retardation Syndrome, Autosomal
McPherson Clemens Syndrome
Meacham Winn Culler Syndrome
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects
Mental Retardation, Buenos Aires Type
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
Microcephaly Cervical Spine Fusion Anomalies
Microcephaly Deafness Syndrome
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
Multiple Epiphyseal Dysplasia with Myopathy
Multiple Pterygium Syndrome, X-Linked
myofascial pain syndrome +
Myopathy due to Malate-Aspartate Shuttle Defect
MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY
myopathy of extraocular muscle +
myopathy with extrapyramidal signs
Myopathy with Giant Abnormal Mitochondria
Myopathy, Cataract, Hypogonadism Syndrome
MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES
Myopathy, Epilepsy, and Progressive Cerebral Atrophy
Nabais Sa-de Vries Syndrome, Type 1
Nabais Sa-de Vries Syndrome, Type 2
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES
Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies
neurogenic scapuloperoneal syndrome Kaeser type
Neutral Lipid Storage Disease with Myopathy
NF1 Microduplication Syndrome
Nicolaides Baraitser Syndrome
Night Blindness Skeletal Anomalies Unusual Facies
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features
Oculopharyngeal Myopathy with Leukoencephalopathy 1
Oculoskeletodental Syndrome
Oroacral Syndrome, Verloes-Koulischer Type
Osteolysis Syndrome, Recessive
Otoonychoperoneal Syndrome
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES
Palant Cleft Palate Syndrome
Partington Anderson Syndrome
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis
Pfeiffer Palm Teller Syndrome
Pierre Robin Sequence with Facial and Digital Anomalies
Progeroid Facial Appearance with Hand Anomalies
Radioulnar Synostosis Retinal Pigment Abnormalities
Ramos Arroyo Clark Syndrome
Reducing Body Myopathies +
Renal and Mullerian Duct Hypoplasia +
Renal Dysplasia - Limb Defects Syndrome
Reticular Dystrophy of Retinal Pigment Epithelium
Reticular Pigmentary Retinal Dystrophy of Posterior Pole
retinal dystrophies primarily involving Bruch's membrane
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT
Retinal Dystrophy and Obesity
retinal dystrophy in systemic or cerebroretinal lipidoses
RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES
Retinal Dystrophy with or without Macular Staphyloma
Retinal Dystrophy, Early Onset Severe
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome
Robin Sequence with Distinctive Facial Appearance and Brachydactyly
Roifman-Chitayat Syndrome
Schrander-Stumpel Theunissen Hulsmans Syndrome
Secretory Diarrhea, Myopathy, and Deafness
Severe Microcephaly with Skeletal Anomalies including Posterior Rib-Gap Defects
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis
Shprintzen Omphalocele Syndrome
Silver-Russell Syndrome 3
Snijders Blok-Campeau Syndrome
Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal
Spinocerebellar Ataxia with Dysmorphism
Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies
syndromic X-linked intellectual disability Turner type
Thomas Jewett Raines Syndrome
Thrombocytopenia Robin Sequence
trichohepatoenteric syndrome +
trichorhinophalangeal syndrome type III
Tubular Aggregate Myopathies +
Uruguay faciocardiomusculoskeletal syndrome
White Forelock with Malformations
Winter Harding Hyde Syndrome
X-linked myopathy with excessive autophagy
|
|
