TaoMedAI/RareMedData huggingface dataset:
Gene: ZMYND11
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 30 (OMIM:616083)
Gene: ZMYND11
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 30 (OMIM:616083)
Gene: ZMYND11
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 30 (OMIM:616083)
Gene: ZMYND11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 30 (OMIM:616083)
Gene: ZMYND11
Phenotype: Wide mouth (HP:0000154)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 30 (OMIM:616083)
Gene: ZMYND11
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 30 (OMIM:616083)
Gene: ZMYND11
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 30 (OMIM:616083)
Gene: ZMYND11
Phenotype: Synophrys (HP:0000664)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 30 (OMIM:616083)
Gene: ZMYND11
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 30 (OMIM:616083)
Gene: ZMYND11
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 30 (OMIM:616083)
Gene: ZMYND11
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 30 (OMIM:616083)
Gene: ZMYND11
Phenotype: Brachycephaly (HP:0000248)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 30 (OMIM:616083)
Gene: ZMYND11
Phenotype: Overfolded helix (HP:0000396)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 30 (OMIM:616083)
Gene: ZMYND11
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 30 (OMIM:616083)
Gene: ZMYND11
Phenotype: Ptosis (HP:0000508)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 30 (OMIM:616083)
Gene: ZMYND11
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 30 (OMIM:616083)
Gene: WDR4
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR4
Phenotype: Aqueductal stenosis (HP:0002410)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR4
Phenotype: Hypertonia (HP:0001276)
Associated disease: MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS (OMIM:618346)
Gene: WDR4
Phenotype: Hypertonia (HP:0001276)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR4
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: GALLOWAY-MOWAT SYNDROME 6 (OMIM:618347)
Gene: WDR4
Phenotype: Motor delay (HP:0001270)
Associated disease: GALLOWAY-MOWAT SYNDROME 6 (OMIM:618347)
Gene: WDR4
Phenotype: Seizure (HP:0001250)
Associated disease: MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS (OMIM:618346)
Gene: WDR4
Phenotype: Seizure (HP:0001250)
Associated disease: GALLOWAY-MOWAT SYNDROME 6 (OMIM:618347)
Gene: WDR4
Phenotype: Seizure (HP:0001250)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR4
Phenotype: Hypotonia (HP:0001252)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: GALLOWAY-MOWAT SYNDROME 6 (OMIM:618347)
Gene: WDR4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GALLOWAY-MOWAT SYNDROME 6 (OMIM:618347)
Gene: WDR4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR4
Phenotype: Spasticity (HP:0001257)
Associated disease: MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS (OMIM:618346)
Gene: WDR4
Phenotype: Abnormality of immune system physiology (HP:0010978)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR4
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: GALLOWAY-MOWAT SYNDROME 6 (OMIM:618347)
Gene: WDR4
Phenotype: Proteinuria (HP:0000093)
Associated disease: GALLOWAY-MOWAT SYNDROME 6 (OMIM:618347)
Gene: WDR4
Phenotype: Proteinuria (HP:0000093)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR4
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS (OMIM:618346)
Gene: WDR4
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS (OMIM:618346)
Gene: WDR4
Phenotype: Absent speech (HP:0001344)
Associated disease: MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS (OMIM:618346)
Gene: WDR4
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS (OMIM:618346)
Gene: WDR4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS (OMIM:618346)
Gene: WDR4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GALLOWAY-MOWAT SYNDROME 6 (OMIM:618347)
Gene: WDR4
Phenotype: Pachygyria (HP:0001302)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR4
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR4
Phenotype: Wide mouth (HP:0000154)
Associated disease: GALLOWAY-MOWAT SYNDROME 6 (OMIM:618347)
Gene: WDR4
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: GALLOWAY-MOWAT SYNDROME 6 (OMIM:618347)
Gene: WDR4
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR4
Phenotype: Nephropathy (HP:0000112)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR4
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: GALLOWAY-MOWAT SYNDROME 6 (OMIM:618347)
Gene: WDR4
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: GALLOWAY-MOWAT SYNDROME 6 (OMIM:618347)
Gene: WDR4
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR4
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR4
Phenotype: Status epilepticus (HP:0002133)
Associated disease: MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS (OMIM:618346)
Gene: WDR4
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR4
Phenotype: Infantile onset (HP:0003593)
Associated disease: GALLOWAY-MOWAT SYNDROME 6 (OMIM:618347)
Gene: WDR4
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR4
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS (OMIM:618346)
Gene: WDR4
Phenotype: Large earlobe (HP:0009748)
Associated disease: MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS (OMIM:618346)
Gene: WDR4
Phenotype: Hypoplasia of the ear cartilage (HP:0100720)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR4
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: GALLOWAY-MOWAT SYNDROME 6 (OMIM:618347)
Gene: WDR4
Phenotype: EEG abnormality (HP:0002353)
Associated disease: MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS (OMIM:618346)
Gene: WDR4
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR4
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS (OMIM:618346)
Gene: WDR4
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: GALLOWAY-MOWAT SYNDROME 6 (OMIM:618347)
Gene: WDR4
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: GALLOWAY-MOWAT SYNDROME 6 (OMIM:618347)
Gene: WDR4
Phenotype: Alveolar ridge overgrowth (HP:0009085)
Associated disease: MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS (OMIM:618346)
Gene: WDR4
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS (OMIM:618346)
Gene: WDR4
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: GALLOWAY-MOWAT SYNDROME 6 (OMIM:618347)
Gene: WDR4
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR4
Phenotype: Microdontia (HP:0000691)
Associated disease: GALLOWAY-MOWAT SYNDROME 6 (OMIM:618347)
Gene: WDR4
Phenotype: Decreased body weight (HP:0004325)
Associated disease: MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS (OMIM:618346)
Gene: WDR4
Phenotype: Decreased body weight (HP:0004325)
Associated disease: GALLOWAY-MOWAT SYNDROME 6 (OMIM:618347)
Gene: WDR4
Phenotype: Short stature (HP:0004322)
Associated disease: MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS (OMIM:618346)
Gene: WDR4
Phenotype: Short stature (HP:0004322)
Associated disease: GALLOWAY-MOWAT SYNDROME 6 (OMIM:618347)
Gene: WDR4
Phenotype: Short stature (HP:0004322)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR4
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: GALLOWAY-MOWAT SYNDROME 6 (OMIM:618347)
Gene: WDR4
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR4
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: GALLOWAY-MOWAT SYNDROME 6 (OMIM:618347)
Gene: WDR4
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS (OMIM:618346)
Gene: WDR4
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: GALLOWAY-MOWAT SYNDROME 6 (OMIM:618347)
Gene: WDR4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: GALLOWAY-MOWAT SYNDROME 6 (OMIM:618347)
Gene: WDR4
Phenotype: Paroxysmal bursts of laughter (HP:0000749)
Associated disease: GALLOWAY-MOWAT SYNDROME 6 (OMIM:618347)
Gene: WDR4
Phenotype: Fetal onset (HP:0011461)
Associated disease: GALLOWAY-MOWAT SYNDROME 6 (OMIM:618347)
Gene: WDR4
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: GALLOWAY-MOWAT SYNDROME 6 (OMIM:618347)
Gene: WDR4
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: GALLOWAY-MOWAT SYNDROME 6 (OMIM:618347)
Gene: WDR4
Phenotype: Epicanthus (HP:0000286)
Associated disease: GALLOWAY-MOWAT SYNDROME 6 (OMIM:618347)
Gene: WDR4
Phenotype: Abnormal intervertebral disk morphology (HP:0005108)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR4
Phenotype: Microcephaly (HP:0000252)
Associated disease: MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS (OMIM:618346)
Gene: WDR4
Phenotype: Microcephaly (HP:0000252)
Associated disease: GALLOWAY-MOWAT SYNDROME 6 (OMIM:618347)
Gene: WDR4
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR4
Phenotype: High palate (HP:0000218)
Associated disease: GALLOWAY-MOWAT SYNDROME 6 (OMIM:618347)
Gene: WDR4
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS (OMIM:618346)
Gene: WDR4
Phenotype: Small for gestational age (HP:0001518)
Associated disease: MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS (OMIM:618346)
Gene: WDR4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS (OMIM:618346)
Gene: WDR4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: GALLOWAY-MOWAT SYNDROME 6 (OMIM:618347)
Gene: WDR4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR4
Phenotype: Growth delay (HP:0001510)
Associated disease: GALLOWAY-MOWAT SYNDROME 6 (OMIM:618347)
Gene: WDR4
Phenotype: High forehead (HP:0000348)
Associated disease: MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS (OMIM:618346)
Gene: WDR4
Phenotype: Micrognathia (HP:0000347)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR4
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR4
Phenotype: Short philtrum (HP:0000322)
Associated disease: MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS (OMIM:618346)
Gene: WDR4
Phenotype: Premature birth (HP:0001622)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR4
Phenotype: Macrotia (HP:0000400)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS (OMIM:618346)
Gene: WDR4
Phenotype: Anteverted nares (HP:0000463)
Associated disease: GALLOWAY-MOWAT SYNDROME 6 (OMIM:618347)
Gene: WDR4
Phenotype: Proptosis (HP:0000520)
Associated disease: MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS (OMIM:618346)
Gene: SEPTIN9
Phenotype: Syndactyly (HP:0001159)
Associated disease: Mononeuritis multiplex with brachial predilection; Neuralgic amyotrophy; Acute brachial plexus neuritis; Brachial plexus neuritis; Neuralgic shoulder amyotrophy; Immune brachial plexus neuropathy (ORPHA:2901)
Gene: SEPTIN9
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: Mononeuritis multiplex with brachial predilection; Neuralgic amyotrophy; Acute brachial plexus neuritis; Brachial plexus neuritis; Neuralgic shoulder amyotrophy; Immune brachial plexus neuropathy (ORPHA:2901)
Gene: SEPTIN9
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: AMYOTROPHY, HEREDITARY NEURALGIC (OMIM:162100)
Gene: SEPTIN9
Phenotype: Muscle weakness (HP:0001324)
Associated disease: AMYOTROPHY, HEREDITARY NEURALGIC (OMIM:162100)
Gene: SEPTIN9
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AMYOTROPHY, HEREDITARY NEURALGIC (OMIM:162100)
Gene: SEPTIN9
Phenotype: Hypoesthesia (HP:0033748)
Associated disease: Mononeuritis multiplex with brachial predilection; Neuralgic amyotrophy; Acute brachial plexus neuritis; Brachial plexus neuritis; Neuralgic shoulder amyotrophy; Immune brachial plexus neuropathy (ORPHA:2901)
Gene: SEPTIN9
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Mononeuritis multiplex with brachial predilection; Neuralgic amyotrophy; Acute brachial plexus neuritis; Brachial plexus neuritis; Neuralgic shoulder amyotrophy; Immune brachial plexus neuropathy (ORPHA:2901)
Gene: SEPTIN9
Phenotype: Narrow mouth (HP:0000160)
Associated disease: AMYOTROPHY, HEREDITARY NEURALGIC (OMIM:162100)
Gene: SEPTIN9
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Mononeuritis multiplex with brachial predilection; Neuralgic amyotrophy; Acute brachial plexus neuritis; Brachial plexus neuritis; Neuralgic shoulder amyotrophy; Immune brachial plexus neuropathy (ORPHA:2901)
Gene: SEPTIN9
Phenotype: Cleft palate (HP:0000175)
Associated disease: Mononeuritis multiplex with brachial predilection; Neuralgic amyotrophy; Acute brachial plexus neuritis; Brachial plexus neuritis; Neuralgic shoulder amyotrophy; Immune brachial plexus neuropathy (ORPHA:2901)
Gene: SEPTIN9
Phenotype: Cleft palate (HP:0000175)
Associated disease: AMYOTROPHY, HEREDITARY NEURALGIC (OMIM:162100)
Gene: SEPTIN9
Phenotype: Redundant neck skin (HP:0005989)
Associated disease: Mononeuritis multiplex with brachial predilection; Neuralgic amyotrophy; Acute brachial plexus neuritis; Brachial plexus neuritis; Neuralgic shoulder amyotrophy; Immune brachial plexus neuropathy (ORPHA:2901)
Gene: SEPTIN9
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Mononeuritis multiplex with brachial predilection; Neuralgic amyotrophy; Acute brachial plexus neuritis; Brachial plexus neuritis; Neuralgic shoulder amyotrophy; Immune brachial plexus neuropathy (ORPHA:2901)
Gene: SEPTIN9
Phenotype: Long nasal bridge (HP:0033142)
Associated disease: AMYOTROPHY, HEREDITARY NEURALGIC (OMIM:162100)
Gene: SEPTIN9
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Mononeuritis multiplex with brachial predilection; Neuralgic amyotrophy; Acute brachial plexus neuritis; Brachial plexus neuritis; Neuralgic shoulder amyotrophy; Immune brachial plexus neuropathy (ORPHA:2901)
Gene: SEPTIN9
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Mononeuritis multiplex with brachial predilection; Neuralgic amyotrophy; Acute brachial plexus neuritis; Brachial plexus neuritis; Neuralgic shoulder amyotrophy; Immune brachial plexus neuropathy (ORPHA:2901)
Gene: SEPTIN9
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Mononeuritis multiplex with brachial predilection; Neuralgic amyotrophy; Acute brachial plexus neuritis; Brachial plexus neuritis; Neuralgic shoulder amyotrophy; Immune brachial plexus neuropathy (ORPHA:2901)
Gene: SEPTIN9
Phenotype: Paresthesia (HP:0003401)
Associated disease: Mononeuritis multiplex with brachial predilection; Neuralgic amyotrophy; Acute brachial plexus neuritis; Brachial plexus neuritis; Neuralgic shoulder amyotrophy; Immune brachial plexus neuropathy (ORPHA:2901)
Gene: SEPTIN9
Phenotype: Acrocyanosis (HP:0001063)
Associated disease: Mononeuritis multiplex with brachial predilection; Neuralgic amyotrophy; Acute brachial plexus neuritis; Brachial plexus neuritis; Neuralgic shoulder amyotrophy; Immune brachial plexus neuropathy (ORPHA:2901)
Gene: SEPTIN9
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Mononeuritis multiplex with brachial predilection; Neuralgic amyotrophy; Acute brachial plexus neuritis; Brachial plexus neuritis; Neuralgic shoulder amyotrophy; Immune brachial plexus neuropathy (ORPHA:2901)
Gene: SEPTIN9
Phenotype: Scapular winging (HP:0003691)
Associated disease: Mononeuritis multiplex with brachial predilection; Neuralgic amyotrophy; Acute brachial plexus neuritis; Brachial plexus neuritis; Neuralgic shoulder amyotrophy; Immune brachial plexus neuropathy (ORPHA:2901)
Gene: SEPTIN9
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: AMYOTROPHY, HEREDITARY NEURALGIC (OMIM:162100)
Gene: SEPTIN9
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Mononeuritis multiplex with brachial predilection; Neuralgic amyotrophy; Acute brachial plexus neuritis; Brachial plexus neuritis; Neuralgic shoulder amyotrophy; Immune brachial plexus neuropathy (ORPHA:2901)
Gene: SEPTIN9
Phenotype: Hypotelorism (HP:0000601)
Associated disease: AMYOTROPHY, HEREDITARY NEURALGIC (OMIM:162100)
Gene: SEPTIN9
Phenotype: Short stature (HP:0004322)
Associated disease: AMYOTROPHY, HEREDITARY NEURALGIC (OMIM:162100)
Gene: SEPTIN9
Phenotype: Short stature (HP:0004322)
Associated disease: Mononeuritis multiplex with brachial predilection; Neuralgic amyotrophy; Acute brachial plexus neuritis; Brachial plexus neuritis; Neuralgic shoulder amyotrophy; Immune brachial plexus neuropathy (ORPHA:2901)
Gene: SEPTIN9
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: Mononeuritis multiplex with brachial predilection; Neuralgic amyotrophy; Acute brachial plexus neuritis; Brachial plexus neuritis; Neuralgic shoulder amyotrophy; Immune brachial plexus neuropathy (ORPHA:2901)
Gene: SEPTIN9
Phenotype: Peripheral axonal degeneration (HP:0000764)
Associated disease: AMYOTROPHY, HEREDITARY NEURALGIC (OMIM:162100)
Gene: SEPTIN9
Phenotype: Upper limb amyotrophy (HP:0009129)
Associated disease: Mononeuritis multiplex with brachial predilection; Neuralgic amyotrophy; Acute brachial plexus neuritis; Brachial plexus neuritis; Neuralgic shoulder amyotrophy; Immune brachial plexus neuropathy (ORPHA:2901)
Gene: SEPTIN9
Phenotype: Sprengel anomaly (HP:0000912)
Associated disease: Mononeuritis multiplex with brachial predilection; Neuralgic amyotrophy; Acute brachial plexus neuritis; Brachial plexus neuritis; Neuralgic shoulder amyotrophy; Immune brachial plexus neuropathy (ORPHA:2901)
Gene: SEPTIN9
Phenotype: Axonal degeneration (HP:0040078)
Associated disease: AMYOTROPHY, HEREDITARY NEURALGIC (OMIM:162100)
Gene: SEPTIN9
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: AMYOTROPHY, HEREDITARY NEURALGIC (OMIM:162100)
Gene: SEPTIN9
Phenotype: Brachial plexus neuropathy (HP:0045054)
Associated disease: AMYOTROPHY, HEREDITARY NEURALGIC (OMIM:162100)
Gene: SEPTIN9
Phenotype: Epicanthus (HP:0000286)
Associated disease: Mononeuritis multiplex with brachial predilection; Neuralgic amyotrophy; Acute brachial plexus neuritis; Brachial plexus neuritis; Neuralgic shoulder amyotrophy; Immune brachial plexus neuropathy (ORPHA:2901)
Gene: SEPTIN9
Phenotype: Epicanthus (HP:0000286)
Associated disease: AMYOTROPHY, HEREDITARY NEURALGIC (OMIM:162100)
Gene: SEPTIN9
Phenotype: Arthralgia (HP:0002829)
Associated disease: Mononeuritis multiplex with brachial predilection; Neuralgic amyotrophy; Acute brachial plexus neuritis; Brachial plexus neuritis; Neuralgic shoulder amyotrophy; Immune brachial plexus neuropathy (ORPHA:2901)
Gene: SEPTIN9
Phenotype: Low-set ears (HP:0000369)
Associated disease: AMYOTROPHY, HEREDITARY NEURALGIC (OMIM:162100)