AHDC1 - AT-hook DNA binding motif containing 1 Gene

Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome

XIGIS

Mrd25

Ahdc1-Related Intellectual Disability - Obstructive Sleep Apnea - Mild Dysmorphism Syndrome

Mental Retardation, Autosomal Dominant 25, Formerly

Mrd25, Formerly

Autosomal Dominant Mental Retardation 25

Autosomal Dominant Intellectual Disability 25

Xgs

Sleep Apnea Syndromes

AOMS3

Central Obesity, Type 2 Diabetes, Hypertension, And Early-Onset Coronary Artery Disease

Obesity, Abdominal, Metabolic Syndrome, Type 3

CHEGDD

TDH1

Hypothyroidism, Congenital, Due To Dyshormonogenesis, 1

Genetic Defect In Thyroid Hormonogenesis 1

Thyroid Hormonogenesis, Genetic Defect In, 1

Iodine Accumulation, Transport, Or Trapping Defect

Iodide Accumulation, Transport, Or Trapping Defect

Chdh1

Congenital Hypothyroidism Due To Dyshormonogenesis Type 1

Iodine Accumulation, Transport Or Trapping Defect

CHDFIDD

Cdk13-Related Disorder

Cdk13-Related Chdfidd

Cdk13-Related Congenital Heart Defects, Dysmorphic Facial Features, Intellectual Developmental Disorder

Autosomal Dominant Mental Retardation

Autosomal Dominant Non-Syndromic Mental Retardation

Autosomal Dominant Non-Syndromic Intellectual Disability

Mental Retardation, Autosomal Dominant

WHSUS

Mrd37

Intellectual Disability-Microcephaly-Strabismus-Behavioral Abnormalities Syndrome

Mental Retardation, Autosomal Dominant 37

Autosomal Dominant Mental Retardation 37

Pogz-Related Intellectual Disability Syndrome

FBCG2

Fibrochondrogenesis, Type 2

Cofs Syndrome

COFS1

Pena-Shokeir Syndrome Type 2

Cofs

Pena-Shokeir Syndrome, Type Ii

Cerebrooculofacioskeletal Syndrome

Cerebro-Oculo-Facio-Skeletal Syndrome 1

Pena Shokeir Syndrome Type 2

Neuronal Ceroid Lipofuscinosis 5

CLN5

Cln5 Disease

Finnish Variant Late Infantile Neuronal Ceroid Lipofuscinosis

Vlincl

Ceroid Lipofuscinosis, Neuronal, 5, Variable Age At Onset

Neuronal Ceroid Lipofuscinosis 5 Variable Age Of Onset

Cln5 Disease, Adult

Cln5 Disease, Juvenile

Cln5 Disease, Late Infantile

Neuronal Ceroid Lipofuscinosis Finnish Variant

Finnish Vlincl

Jansky-Bielschowsky Disease

Late-Infantile Neuronal Ceroid Lipofuscinosis

Neuronal Ceroid Lipofuscinosis, Late-Infantile

Finnish

Neuronal Ceroid Lipofuscinosis 5 With Variable Age At Onset

Lipofuscinosis, Ceroid, Neuronal, Type 5

Late-Infantile Neuronal Ceroid Lipfuscinosis

Ceroid Lipofuscinosis, Neuronal, 6

Congenital Laryngomalacia

Congenital Laryngeal Stridor

Laryngomalacia Congenital

Floppy Epiglottis

BRPS

Severe Feeding Difficulties-Failure To Thrive-Microcephaly Due To Asxl3 Deficiency Syndrome

Asxl3-Related Disorder

Muenke Nonsyndromic Coronal Craniosynostosis

Fgfr3-Related Craniosynostosis

Fgfr3-Associated Coronal Synostosis

Coronal Craniosynostosis

MNKES

Syndrome Of Coronal Craniosynostosis

MNKS

Fgfr3-Related Isolated Coronal Synostosis

Muenke Non-Syndromic Coronal Craniosynostosis

Noonan Syndrome

NS1

Male Turner Syndrome

Female Pseudo-Turner Syndrome

Turner Phenotype With Normal Karyotype

Noonan Syndrome With Pigmented Villonodular Synovitis

Turner'S Phenotype, Karyotype Normal

Familial Turner Syndrome

Noonan'S Syndrome

Noonan-Ehmke Syndrome

Ns

Pseudo-Ullrich-Turner Syndrome

Turner Syndrome In Female With X Chromosome

Turner-Like Syndrome

Ullrich-Noonan Syndrome

Noonan-Like/Multiple Giant Cell Lesion Syndrome

Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

Pterygium Colli Syndrome

Noonan Syndrome, Type 1

Turner Syndrome, Male

1p36 Deletion Syndrome

Deletion 1p36

Monosomy 1p36

Subtelomeric 1p36 Deletion

Monosomy 1p36 Syndrome

Distal Monosomy 1p36

Del(1)(P36)

Deletion 1pter

Monosomy 1pter

Premature Closure Of Cranial Sutures

Craniostenosis

Craniosynostosis Syndrome

Cso

Craniosynostoses

Congenital Ossification Of Cranial Sutures

Congenital Ossification Of Sutures Of Skull

Craniostosis

Imperfect Fusion Of Skull

Congenital Imperfect Closure Skull

Imperfect Closure Skull

Premature Closure Cranium Sutures

Deficiency Of Craniofacial Axis