TaoMedAI/RareMedData huggingface dataset:
Gene: STUB1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: SPINOCEREBELLAR ATAXIA 48 (OMIM:618093)
Gene: STUB1
Phenotype: Abnormal sella turcica morphology (HP:0002679)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPINOCEREBELLAR ATAXIA 48 (OMIM:618093)
Gene: STUB1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 (OMIM:615768)
Gene: STUB1
Phenotype: Dystonia (HP:0001332)
Associated disease: SPINOCEREBELLAR ATAXIA 48 (OMIM:618093)
Gene: STUB1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 (OMIM:615768)
Gene: STUB1
Phenotype: Tremor (HP:0001337)
Associated disease: SPINOCEREBELLAR ATAXIA 48 (OMIM:618093)
Gene: STUB1
Phenotype: Tremor (HP:0001337)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 (OMIM:615768)
Gene: STUB1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINOCEREBELLAR ATAXIA 48 (OMIM:618093)
Gene: STUB1
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPINOCEREBELLAR ATAXIA 48 (OMIM:618093)
Gene: STUB1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 (OMIM:615768)
Gene: STUB1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Parkinsonism (HP:0001300)
Associated disease: SPINOCEREBELLAR ATAXIA 48 (OMIM:618093)
Gene: STUB1
Phenotype: Hypogonadism (HP:0000135)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 (OMIM:615768)
Gene: STUB1
Phenotype: Hypogonadism (HP:0000135)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Parietal cortical atrophy (HP:0012104)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Dysphagia (HP:0002015)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPINOCEREBELLAR ATAXIA 48 (OMIM:618093)
Gene: STUB1
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 (OMIM:615768)
Gene: STUB1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: SPINOCEREBELLAR ATAXIA 48 (OMIM:618093)
Gene: STUB1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA 48 (OMIM:618093)
Gene: STUB1
Phenotype: Rigidity (HP:0002063)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 (OMIM:615768)
Gene: STUB1
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Chorea (HP:0002072)
Associated disease: SPINOCEREBELLAR ATAXIA 48 (OMIM:618093)
Gene: STUB1
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 (OMIM:615768)
Gene: STUB1
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPINOCEREBELLAR ATAXIA 48 (OMIM:618093)
Gene: STUB1
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 (OMIM:615768)
Gene: STUB1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Postural tremor (HP:0002174)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Postural instability (HP:0002172)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Adult onset (HP:0003581)
Associated disease: SPINOCEREBELLAR ATAXIA 48 (OMIM:618093)
Gene: STUB1
Phenotype: Insomnia (HP:0100785)
Associated disease: SPINOCEREBELLAR ATAXIA 48 (OMIM:618093)
Gene: STUB1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Hand tremor (HP:0002378)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Progressive (HP:0003676)
Associated disease: SPINOCEREBELLAR ATAXIA 48 (OMIM:618093)
Gene: STUB1
Phenotype: Progressive (HP:0003676)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 (OMIM:615768)
Gene: STUB1
Phenotype: Memory impairment (HP:0002354)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Head tremor (HP:0002346)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 (OMIM:615768)
Gene: STUB1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Impaired proprioception (HP:0010831)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Iridocyclitis (HP:0001094)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Hyperactive deep tendon reflexes (HP:0006801)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Nystagmus (HP:0000639)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 (OMIM:615768)
Gene: STUB1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Cachexia (HP:0004326)
Associated disease: SPINOCEREBELLAR ATAXIA 48 (OMIM:618093)
Gene: STUB1
Phenotype: Irritability (HP:0000737)
Associated disease: SPINOCEREBELLAR ATAXIA 48 (OMIM:618093)
Gene: STUB1
Phenotype: Anxiety (HP:0000739)
Associated disease: SPINOCEREBELLAR ATAXIA 48 (OMIM:618093)
Gene: STUB1
Phenotype: Depression (HP:0000716)
Associated disease: SPINOCEREBELLAR ATAXIA 48 (OMIM:618093)
Gene: STUB1
Phenotype: Ankle clonus (HP:0011448)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 (OMIM:615768)
Gene: STUB1
Phenotype: Ankle clonus (HP:0011448)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Infertility (HP:0000789)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Abnormal motor evoked potentials (HP:0012896)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Alopecia (HP:0001596)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Speech apraxia (HP:0011098)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Progeroid facial appearance (HP:0005328)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Pancreatitis (HP:0001733)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Glaucoma (HP:0000501)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Delayed menarche (HP:0012569)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 (OMIM:615768)
Gene: STAG1
Phenotype: Single umbilical artery (HP:0001195)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 (OMIM:617635)
Gene: STAG1
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 (OMIM:617635)
Gene: STAG1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (ORPHA:502434)
Gene: STAG1
Phenotype: Seizure (HP:0001250)
Associated disease: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (ORPHA:502434)
Gene: STAG1
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 (OMIM:617635)
Gene: STAG1
Phenotype: Hypotonia (HP:0001252)
Associated disease: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (ORPHA:502434)
Gene: STAG1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (ORPHA:502434)
Gene: STAG1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 (OMIM:617635)
Gene: STAG1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (ORPHA:502434)
Gene: STAG1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 (OMIM:617635)
Gene: STAG1
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 (OMIM:617635)
Gene: STAG1
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (ORPHA:502434)
Gene: STAG1
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (ORPHA:502434)
Gene: STAG1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (ORPHA:502434)
Gene: STAG1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 (OMIM:617635)
Gene: STAG1
Phenotype: Hypoplastic male external genitalia (HP:0000050)
Associated disease: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (ORPHA:502434)
Gene: STAG1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 (OMIM:617635)
Gene: STAG1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (ORPHA:502434)
Gene: STAG1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 (OMIM:617635)
Gene: STAG1
Phenotype: Scoliosis (HP:0002650)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 (OMIM:617635)
Gene: STAG1
Phenotype: Scoliosis (HP:0002650)
Associated disease: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (ORPHA:502434)
Gene: STAG1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 (OMIM:617635)
Gene: STAG1
Phenotype: Wide mouth (HP:0000154)
Associated disease: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (ORPHA:502434)
Gene: STAG1
Phenotype: Wide mouth (HP:0000154)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 (OMIM:617635)
Gene: STAG1
Phenotype: Widely-spaced incisors (HP:0006304)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 (OMIM:617635)
Gene: STAG1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (ORPHA:502434)
Gene: STAG1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 (OMIM:617635)
Gene: STAG1
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (ORPHA:502434)
Gene: STAG1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 (OMIM:617635)
Gene: STAG1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 (OMIM:617635)
Gene: STAG1
Phenotype: Congenital onset (HP:0003577)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 (OMIM:617635)
Gene: STAG1
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (ORPHA:502434)
Gene: STAG1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 (OMIM:617635)
Gene: STAG1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (ORPHA:502434)
Gene: STAG1
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 (OMIM:617635)
Gene: STAG1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 (OMIM:617635)
Gene: STAG1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (ORPHA:502434)
Gene: STAG1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (ORPHA:502434)
Gene: STAG1
Phenotype: Synophrys (HP:0000664)
Associated disease: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (ORPHA:502434)
Gene: STAG1
Phenotype: Short stature (HP:0004322)
Associated disease: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (ORPHA:502434)
Gene: STAG1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 (OMIM:617635)
Gene: STAG1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (ORPHA:502434)
Gene: STAG1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 (OMIM:617635)
Gene: STAG1
Phenotype: Thin eyebrow (HP:0045074)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 (OMIM:617635)
Gene: STAG1
Phenotype: Thin eyebrow (HP:0045074)
Associated disease: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (ORPHA:502434)
Gene: STAG1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (ORPHA:502434)
Gene: STAG1
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (ORPHA:502434)
Gene: STAG1
Phenotype: Abnormality of the upper limb (HP:0002817)
Associated disease: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (ORPHA:502434)
Gene: STAG1
Phenotype: Widely-spaced maxillary central incisors (HP:0001566)
Associated disease: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (ORPHA:502434)
Gene: STAG1
Phenotype: Microcephaly (HP:0000252)
Associated disease: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (ORPHA:502434)
Gene: STAG1
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 (OMIM:617635)
Gene: STAG1
Phenotype: High palate (HP:0000218)
Associated disease: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (ORPHA:502434)
Gene: STAG1
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (ORPHA:502434)
Gene: STAG1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (ORPHA:502434)
Gene: STAG1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 (OMIM:617635)
Gene: STAG1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (ORPHA:502434)
Gene: STAG1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 (OMIM:617635)
Gene: STAG1
Phenotype: Low-set ears (HP:0000369)
Associated disease: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (ORPHA:502434)
Gene: STAG1
Phenotype: Micrognathia (HP:0000347)
Associated disease: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (ORPHA:502434)
Gene: STAG1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 (OMIM:617635)
Gene: STAG1
Phenotype: Strabismus (HP:0000486)
Associated disease: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (ORPHA:502434)
Gene: STAG1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (ORPHA:502434)
Gene: STAG1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 (OMIM:617635)
Gene: STAG1
Phenotype: Brain atrophy (HP:0012444)
Associated disease: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (ORPHA:502434)
Gene: STAG1
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (ORPHA:502434)
Gene: STAG1
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 (OMIM:617635)
Gene: STAG1
Phenotype: Long eyelashes (HP:0000527)
Associated disease: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (ORPHA:502434)
Gene: UBE4B
Phenotype: Brachydactyly (HP:0001156)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: UBE4B
Phenotype: Poor speech (HP:0002465)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)