KAT6B - lysine acetyltransferase 6B Gene

GTPTS

Absent Patellae, Scrotal Hypoplasia, Renal Anomalies, Facial Dysmorphism, And Mental Retardation

Absent Patellae-Scrotal Hypoplasia-Renal Anomalies-Facial Dysmorphism-Intellectual Disability Syndrome

Gps

Say-Barber-Biesecker-Young-Simpson Syndrome

SBBYSS

Young-Simpson Syndrome

Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type

Yss

Sbbys Variant Of Ohdo Syndrome

Blepharophimosis - Intellectual Disability Syndrome, Sbbys Type

Young Simpson Syndrome

Sbbyss Syndrome

Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

Blepharophimosis And Mental Retardation Syndrome, Say-Barber/Biesecker/Young-Simpson Type

Blepharophimosis-Intellectual Deficit Syndrome, Say-Barber/Biesecker/Young-Simpson Type

Bmrs Sbbys

Ohdo Syndrome, Say-Barber-Biesecker Variant

Say-Barber-Biesecker-Young-Simpson Variant Of Ohdo Syndrome

Hypothyroidism-Dysmorphism-Postaxial Polydactyly-Intellectual Disability Syndrome

Say-Barber-Biesecker Variant Of Ohdo Syndrome

Young Simpson Syndrome

Ohdo Blepharophimosis Syndrome

Blepharophimosis Syndrome Ohdo Type

Blepharophimosis Intellectual Disability Syndromes

Bmrs

Blepharophimosis-Intellectual Disability Syndrome

Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis, And Hypoplastic Teeth

Sbbys Syndrome

Say Barber Biesecker Young-Simpson Syndrome

Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type

Bmrs, Ohdo Type

Blepharophimosis Syndrome, Ohdo Type

Ohdo-Madokoro-Sonoda Syndrome

Blepharophimosis - Intellectual Disability Syndrome, Ohdo Type

Blepharophimosis - Intellectual Disability Syndrome

Kat6b-Related Disorder

Kat6b-Related Disorders

PADMAL

Dementia, Hereditary Multi-Infarct, Swedish Type

Pontine Autosomal Dominant Microangiopathy With Leukoencephalopathy

BSVD1

Gould Syndrome 1

Hemiplegia, Infantile, With Porencephaly

Brain Small Vessel Disease With Hemorrhage

Retinal Arteriolar Tortuosity, Infantile Hemiparesis, And Leukoencephalopathy, Autosomal Dominant

Brain Small Vessel Disease With Axenfeld-Rieger Anomaly

Leukoencephalopathy With Axenfeld-Rieger Anomaly

Porencephaly, Type 1, Formerly

T1p, Formerly

Porencephaly, Type 1, Autosomal Dominant, Formerly

Adt1p, Formerly

Porencephaly 1, Formerly

Poren1, Formerly

Brain Small Vessel Disease With Or Without Ocular Anomalies

Adt1p

Hemiplegia Infantile With Porencephaly Type 1

Poren1

Porencephaly 1

Porencephaly Type 1

Porencephaly Type 1 Autosomal Dominant

T1p

Porencephaly, Familial

Retinal Arterial Tortuosity

Retinal Hemorrhage With Vascular Tortuosity

RATOR

Tortuosity Of Retinal Arteries

Retinal Arteriolar Tortuosity

Familial Isolated Retinal Arterial Tortuosity

Tortuosity, Arteries, Retinal

Autosomal Dominant Familial Hematuria-Retinal Arteriolar Tortuosity-Contractures Syndrome

HANAC

Hereditary Angiopathy With Nephropathy, Aneurysms, And Muscle Cramps Syndrome

Hanac Syndrome

Hereditary Angiopathy-Nephropathy-Aneurysms-Muscle Cramps Syndrome

Autosomal Dominant Familial Hematuria, Retinal Arteriolar Tortuosity, Contractures

Hereditary Angiopathy With Nephropathy, Aneurysm, And Muscle Cramps Syndrome

Hereditary Angiopathy With Nephropathy Aneurysms And Muscle Cramps

ETL1

Adpeaf

Adlte

Epilepsy, Partial, With Auditory Features

Autosomal Dominant Partial Epilepsy With Auditory Features

Epilepsy, Lateral Temporal Lobe, Autosomal Dominant

Familial Temporal Lobe Epilepsy 1

Partial Epilepsy With Auditory Features

Autosomal Dominant Lateral Temporal Lobe Epilepsy

Lateral Temporal Lobe Epilepsy Autosomal Dominant

Epilepsy, Temporal Lobe, Familial, Type 1

KBGS

Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, And Skeletal Anomalies

Short Stature, Characteristic Facies, Macrodontia, Intellectual Disability, And Skeletal Anomalies

Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, And Skeletal Anomalies

Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome

Short Stature-Facial And Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome

Intracerebral Hemorrhage

Hemorrhagic Stroke

ICH

Hemorrhage, Intracerebral, Susceptibility To

Stroke, Hemorrhagic

Stroke, Hemorrhagic, Susceptibility To

Brain Hemorrhage

Monocytic Leukaemia

Schilling'S Leukaemia

Schilling'S Leukemia

M5b Acute Differentiated Monocytic Leukemia

Congenital Talipes Equinovarus

Congenital Clubfoot

Congenital Equinovarus

Equinovarus Deformity Of Foot

Club Foot

Cryptorchidism

Undescended Testicle

Undescended Testis

Cryptorchism

Undescended Testicles

CRYPTO

Impaired Testicular Descent

Cryptosporidiosis

Retained Testis

Unilateral Cryptorchidism

Unilateral Undescended Testis

Nondescent Unilateral Testicle

Unilateral Cryptorchism

Ectopic Testis, Unilateral

Bilateral Cryptorchidism

Bilateral Cryptorchism

Bilateral Nondescent Testicle

Bilateral Undescended Testes

Bilateral Ectopic Testes

Vesico-Ureteral Reflux

Congenital Equinovarus

Congenital Talipes Equinovarus

Equinovarus

Congenital Varus Clubfoot

CCF

Familial Clubfoot Due To 5q31 Microdeletion

Familial Clubfoot Due To Pitx1 Point Mutation

Hereditary Clubfoot Due To Pitx1 Point Mutation

Hereditary Clubfoot Due To 5q31 Microdeletion

Talipes Equinovarus

Tev

Clubfoot, Congenital, With/Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly

Eyes Wide Apart

Eyes Widely Set

Hypertelorism Of Orbit

Ocular Hypertelorism

Orbital Separation Excessive

Renal Or Urinary Tract Malformation

Congenital Anomalies Of Kidney And Urinary Tract

Congenital Anomaly Of Kidney And Urinary Tract

Congenital Anomalies Of The Kidney And Urinary Tract

Kidney And Urinary Tract, Anomalies, Congenital

Renal Hypodysplasia, Nonsyndromic, 1

CDLS5

Cornelia De Lange Syndrome, Type 5

SRXX3

Chromosome Xq26 Duplication Syndrome

46,Xx Sex Reversal, Sox3-Related

46xx Sex Reversal 3

46,Xx Male Sex Reversal Sox3-Related

Eyelid Diseases

Eyelid Disorders

Kat6a Syndrome

Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome

ARTHS

Mrd32

Mental Retardation, Autosomal Dominant 32, Formerly

Mrd32, Formerly

Autosomal Dominant Mental Retardation 32

Autosomal Dominant Non-Syndromic Intellectual Disability 32

Arboleda-Tham

Mrxs36

MRXSBA

Mental Retardation, X-Linked, Syndromic, Basilicata-Akhtar Type

Mental Retardation, X-Linked, Syndromic 36

X-Linked Syndromic Mental Retardation 36

X-Linked Syndromic Mental Retardation Basilicata-Akhtar Type

Mental Retardation, X-Linked Syndromic, Nascimento-Type

X-Linked Intellectual Disability-Nail Dystrophy-Seizures Syndrome

Mrx93

X-Linked Mental Retardation With Macrocephaly

Rubinstein-Taybi Syndrome

Broad Thumb-Hallux Syndrome

Chromosome 16p13.3 Deletion Syndrome

Rubinstein-Taybi Syndrome Due To 16p13.3 Microdeletion

Rubinstein Syndrome

Broad Thumbs-Halluces Syndrome

Rsts

Rubinstein-Taybi Deletion Syndrome

Rsts Deletion Syndrome

Proximal Chromosome 16p13.3 Deletion Syndrome

16p13.3 Deletion Syndrome

Broad Thumbs And Great Toes, Characteristic Facies, And Intellectual Disability

Rts

Kallmann Syndrome 2

Kal2

HH2

Hypogonadism, Hypogonadotropic, Type 2 With/Without Anosmia

FLHS

Fhs

Pelletier-Leisti Syndrome

Short Stature With Delayed Bone Age, Expressive Language Delay, A Triangular Face With A Prominent Nose And Deep-Set Eyes

Leisti-Hollander-Rimoin Syndrome

Mental Retardation, X-Linked 3

Methylmalonic Acidemia With Homocystinuria, Type Cblx

MAHCX

Intellectual Developmental Disorder, X-Linked 3

Xlid3

Mrx3

Methylmalonic Acidemia And Homocysteinemia Cblx Type

Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblx

Methylmalonic Aciduria With Homocystinuria, Type Cblx

Methylmalonic Acidemia And Homocysteinemia, Cblx Type

Methylmalonic Aciduria And Homocysteinemia, Cblx Type

Methylmalonic Aciduria And Homocysteinemia , Cblx Type

Mental Retardation, X-Linked, Type 3

Congenital Laryngomalacia

Congenital Laryngeal Stridor

Laryngomalacia Congenital

Floppy Epiglottis

Ras/Mitogen-Activated Protein Kinase Syndrome

Cardiofaciocutaneous Syndrome

Cfc Syndrome

Cardio-Facio-Cutaneous Syndrome

CFC1

Cfcs

Cardio-Facial-Cutaneous Syndrome

Congenital Heart Defects Characteristic Facial Appearance Ectodermal Abnormalities And Growth Failure

Cardiofaciocutaneous Syndrome, Type 1

Kabuki Syndrome

Niikawa-Kuroki Syndrome

Kabuki Make-Up Syndrome

Kms

KABUK1

Kabuki Make Up Syndrome

Nks

Kabuki Makeup Syndrome

Kabuki Syndrome, Type 1

Blepharoptosis

Drooping Eyelid

Droopy Eyelid

Ptosis Of Eyelid

Paralysis Of Levator Palpebrae Superioris

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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

Joubert Syndrome

Jbts

Cerebellooculorenal Syndrome 1

JBTS1

Joubert-Boltshauser Syndrome

Cerebelloparenchymal Disorder Iv

Cpd4

Cors1

Joubert Syndrome And Related Disorders

Jsrd

Familial Aplasia Of The Vermis

Joubert Syndrome Related Disorders

Js

Cerebellar Vermis Agenesis

Cerebelloparenchymal Disorder 4

Agenesis Of Cerebellar Vermis

Cerebello-Oculo-Renal Syndrome

Cors

Joubert-Bolthauser Syndrome

Cpd Iv

Classic Joubert Syndrome

Joubert Syndrome Type A

Pure Joubert Syndrome

Cerebello-Oculo-Renal Syndrome 1

Joubert Syndrome-1

Joubert Syndrome, Type 1

Joubert'S Syndrome

Congenital Neurologic Anomaly

Congenital Nervous System Disorder