DIAPH1 - diaphanous related formin 1 Gene

Konigsmark Syndrome

DFNA1

Autosomal Dominant Nonsyndromic Deafness 1

Lfhl1

Deafness, Autosomal Dominant 1

Autosomal Dominant Deafness 1

Autosomal Dominant Deafness 1, With Or Without Thrombocytopenia

Hereditary Low Frequency Hearing Loss 1

Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome

Diaph1-Related Sensorineural Deafness-Thrombocytopenia Syndrome

Hereditary Low-Frequency Hearing Loss

Hereditary Low-Frequency Sensorineural Hearing Loss

Lfsnhl1

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 1

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 1

Deafness, Autosomal Dominant, Type 1

Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome

SCBMS

Seizures, Cortical Blindness, Microcephaly Syndrome

Moyamoya Disease

Spontaneous Occlusion Of The Circle Of Willis

Mymy

Progressive Intracranial Arterial Occlusion

Moyamoya Syndrome

MYMY1

Cerebrovascular Moyamoya Disease

Moya-Moya Disease

Progressive Intracranial Occlusive Arteropathy

Idiopathic Moyamoya Disease

Rare Genetic Hearing Loss

Goiter-Deafness Syndrome

Deafness With Goiter

PDS

Thyroid Dyshormonogenesis 2b

Tdh2b

Autosomal Recessive Sensorineural Hearing Impairment And Goiter

Pendred'S Syndrome

Thyroid Hormonogenesis, Genetic Defect In, 2b

Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2b

Congenital Hypothyroidism Due To Dyshormonogenesis 2b

Genetic Defect In Thyroid Hormonogenesis 2b

Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, And Goiter

Goiter-Hearing Loss Syndrome

Goitre-Deafness Syndrome

Goitre Deafness

Blindness, Cortical

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Subglottic Tumor

Autosomal Dominant Auditory Neuropathy 1

AUNA1

Nsdan

Auditory Neuropathy, Autosomal Dominant, 1

Auditory Neuropathy, Nonsyndromic Dominant

Nonsyndromic Dominant Auditory Neuropathy

Nonsyndromic Auditory Neuropathy Autosomal Dominant

Visual Cortex Dysfunction

Visual Cortex Disorder

Visual Cortical Disorder

Disease Of Visual Cortex

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Disorder Of Visual Pathways

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency

DFNA67

Autosomal Dominant Nonsyndromic Deafness 67

Autosomal Dominant Deafness 67

Deafness, Autosomal Dominant, 67

Deafness, Autosomal Dominant, Type 67

DFNB101

Autosomal Recessive Nonsyndromic Deafness 101

Autosomal Recessive Deafness 101

Deafness, Autosomal Recessive, 101

Deafness, Autosomal Recessive, Type 101

DFNB84A

Deafness, Autosomal Recessive 84

Autosomal Recessive Nonsyndromic Deafness 84a

Dfnb84

Deafness, Autosomal Recessive 84a, With Vestibular Dysfunction

Autosomal Recessive Deafness 84a

Autosomal Recessive Deafness 84a With Vestibular Dysfunction

Deafness, Autosomal Recessive, 84a

Deafness Autosomal Recessive 84

Deafness Autosomal Recessive 84a With Vestibular Dysfunction

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 84

Deafness, Autosomal Recessive, Type 84a

Dementia, Familial Danish

Fdd

Familial Danish Dementia

Heredopathia Ophthalmootoencephalica

Hooe

Cerebellar Ataxia, Cataract, Deafness, And Dementia Or Psychosis

Adan Amyloidosis

Itm2b-Related Cerebral Amyloid Angiopathy 2

Itm2b Amyloidosis

Familial Cerebral Amyloid Angiopathy

Itm2b-Related Amyloidosis

Itm2b-Related Cerebral Amyloid Angiopathy

Familial Dementia, Danish Type

Cerebral Amyloid Angiopathy, Itm2b-Related 2

CAA-ITM2B2

Cerebellar Ataxia Cataract Deafness And Dementia Or Psychosis

Dementia, Familial, Danish

Autosomal Dominant Deafness

Combined T Cell And B Cell Immunodeficiency

Congenital Combined Immunodeficiency

Syndrome With Combined Immunodeficiency

Combined T And B Cell Immunodeficiency

Combined Immunity Deficiency

Combined Immunodeficiency Syndrome

Combined T-Cell And B-Cell Immunodeficiency

Lymphopenic Agammaglobulinaemia

Congenital Amegakaryocytic Thrombocytopenia

CAMT

Thrombocytopenia, Congenital Amegakaryocytic

Congenital Amegakaryocytic Thrombocytopenic Purpura

Thrombocytopenia Congenital Amegakaryocytic

Thrombocytopenia, Amegakaryocytic, Congenital

Progressive Deafness With Stapes Fixation

DFNX2

Dfn3

Nance Deafness

Perilymphatic Gusher-Deafness Syndrome

Stapedo-Vestibular Ankylosis

Sensorineural Deafness, Profound, With Or Without A Conductive Component, Associated With A Unique Developmental Abnormality Of The Ear

X-Linked Deafness 2

X-Linked Mixed Conductive And Neurosensory Deafness

X-Linked Mixed Conductive And Sensorineural Deafness

Deafness 3 Conductive With Stapes Fixation

Deafness Conductive With Stapes Fixation

Deafness Mixed With Perilymphatic Gusher

Thies-Reis Syndrome

Deafness, Conductive, With Stapes Fixation

Deafness 3, Conductive, With Stapes Fixation

Deafness, Mixed, With Perilymphatic Gusher

Conductive Deafness 3 With Stapes Fixation

Conductive Deafness With Stapes Fixation

Mixed Deafness With Perilymphatic Gusher

X-Linked Deafness Type 2

X-Linked Mixed Conductive And Neurosensory Hearing Loss

X-Linked Mixed Conductive And Sensorineural Hearing Loss

X-Linked Sensorineural Deafness

X-Linked Stapes Gusher Syndrome

Deafness Mixed With Perilymphatic Gusher, X-Linked

Dfn 3 Nonsyndromic Hearing Loss And Deafness

Gusher Syndrome

Thies Reis Syndrome

Progressive Hearing Loss With Stapes Fixation

Deafness, X-Linked, 2

Deafness Mixed With Perilymph Gusher X-Linked

Deafness, X-Linked, Type 2

Progressive Hearing Loss Stapes Fixation

Low Platelet Count

Low Platelets

Decreased Platelets

Platelet Dysfunction Nos

Waardenburg Syndrome Type 1

WS1

Waardenburg Syndrome Type I

Waardenburg Syndrome With Dystopia Canthorum

Waardenburg'S Syndrome Type 1

Waardenburg Syndrome 1

Waardenburg Syndrome, Type I

Waardenburg Syndrome