TaoMedAI/RareMedData huggingface dataset:
Gene: ABCC9
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ABCC9
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ABCC9
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ABCC9
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Prominent forehead (HP:0011220)
Associated disease: CANTU SYNDROME (OMIM:239850)
Gene: ABCC9
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: ABCC9
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ABCC9
Phenotype: Esotropia (HP:0000565)
Associated disease: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME (OMIM:619719)
Gene: ABCC9
Phenotype: Deep plantar creases (HP:0001869)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: ABCC9
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL18BP
Phenotype: Coma (HP:0001259)
Associated disease: HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO (OMIM:618549)
Gene: IL18BP
Phenotype: Hepatic failure (HP:0001399)
Associated disease: HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO (OMIM:618549)
Gene: IL18BP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO (OMIM:618549)
Gene: IL18BP
Phenotype: Nausea (HP:0002018)
Associated disease: HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO (OMIM:618549)
Gene: IL18BP
Phenotype: Fulminant hepatitis (HP:0004787)
Associated disease: HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO (OMIM:618549)
Gene: IL18BP
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO (OMIM:618549)
Gene: IL18BP
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO (OMIM:618549)
Gene: IL18BP
Phenotype: Poor appetite (HP:0004396)
Associated disease: HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO (OMIM:618549)
Gene: IL18BP
Phenotype: Hashimoto thyroiditis (HP:0000872)
Associated disease: HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO (OMIM:618549)
Gene: IL18BP
Phenotype: Jaundice (HP:0000952)
Associated disease: HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO (OMIM:618549)
Gene: IL18BP
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO (OMIM:618549)
Gene: IL18BP
Phenotype: Fatigue (HP:0012378)
Associated disease: HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO (OMIM:618549)
Gene: IL18BP
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO (OMIM:618549)
Gene: SNUPN
Phenotype: Abnormal Z disk morphology (HP:0020202)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Calf muscle pseudohypertrophy (HP:0003707)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Motor delay (HP:0001270)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Areflexia (HP:0001284)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Global developmental delay (HP:0001263)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Loss of ambulation (HP:0002505)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Joint hypermobility (HP:0001382)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Scoliosis (HP:0002650)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Hyperlordosis (HP:0003307)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Spinal rigidity (HP:0003306)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Gowers sign (HP:0003391)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Infantile onset (HP:0003593)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Congenital onset (HP:0003577)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Pain insensitivity (HP:0007021)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Unsteady gait (HP:0002317)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Short corpus callosum (HP:0200012)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Juvenile onset (HP:0003621)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Difficulty running (HP:0009046)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Abnormal muscle fiber morphology (HP:0004303)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Childhood onset (HP:0011463)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Limb joint contracture (HP:0003121)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Joint contracture (HP:0034392)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Elbow contracture (HP:0034391)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Increased endomysial connective tissue (HP:0100297)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Microcephaly (HP:0000252)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Accumulation of muscle fiber myotilin (HP:0030227)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Hand muscle weakness (HP:0030237)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Highly elevated creatine kinase (HP:0030234)
Associated disease:  (OMIM:620793)
Gene: SNUPN
Phenotype: Developmental cataract (HP:0000519)
Associated disease:  (OMIM:620793)
Gene: HUWE1
Phenotype: Tapered finger (HP:0001182)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Motor delay (HP:0001270)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Micropenis (HP:0000054)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Hypospadias (HP:0000047)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Absent speech (HP:0001344)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Scoliosis (HP:0002650)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Wide mouth (HP:0000154)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Poor coordination (HP:0002370)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Small hand (HP:0200055)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Nystagmus (HP:0000639)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Oligodontia (HP:0000677)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Short stature (HP:0004322)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Short nose (HP:0003196)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Long face (HP:0000276)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Clinodactyly (HP:0030084)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: High palate (HP:0000218)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Cupped ear (HP:0000378)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Low-set ears (HP:0000369)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Long philtrum (HP:0000343)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: High forehead (HP:0000348)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Micrognathia (HP:0000347)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Short philtrum (HP:0000322)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Triangular face (HP:0000325)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Strabismus (HP:0000486)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Small nail (HP:0001792)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Short foot (HP:0001773)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Protruding ear (HP:0000411)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Overlapping toe (HP:0001845)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Ptosis (HP:0000508)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Esotropia (HP:0000565)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Epicanthus inversus (HP:0000537)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: HUWE1
Phenotype: Myopia (HP:0000545)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Gene: ATP9A
Phenotype: Receptive language delay (HP:0010863)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES (OMIM:620242)
Gene: ATP9A
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES (OMIM:620242)
Gene: ATP9A
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES (OMIM:620242)
Gene: ATP9A
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES (OMIM:620242)
Gene: ATP9A
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES (OMIM:620242)
Gene: ATP9A
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES (OMIM:620242)
Gene: ATP9A
Phenotype: Dysphoria (HP:0033838)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES (OMIM:620242)
Gene: ATP9A
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES (OMIM:620242)
Gene: ATP9A
Phenotype: Muscle weakness (HP:0001324)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES (OMIM:620242)
Gene: ATP9A
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES (OMIM:620242)
Gene: ATP9A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES (OMIM:620242)
Gene: ATP9A
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES (OMIM:620242)
Gene: ATP9A
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES (OMIM:620242)
Gene: ATP9A
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES (OMIM:620242)
Gene: ATP9A
Phenotype: Decreased patellar reflex (HP:0011808)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES (OMIM:620242)
Gene: ATP9A
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES (OMIM:620242)
Gene: ATP9A
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES (OMIM:620242)
Gene: ATP9A
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES (OMIM:620242)
Gene: ATP9A
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES (OMIM:620242)
Gene: ATP9A
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES (OMIM:620242)
Gene: ATP9A
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES (OMIM:620242)
Gene: ATP9A
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES (OMIM:620242)
Gene: ATP9A
Phenotype: Poor coordination (HP:0002370)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES (OMIM:620242)
Gene: ATP9A
Phenotype: Hyperactivity (HP:0000752)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES (OMIM:620242)
Gene: ATP9A
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES (OMIM:620242)
Gene: ATP9A
Phenotype: Short attention span (HP:0000736)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES (OMIM:620242)
Gene: ATP9A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES (OMIM:620242)
Gene: ATP9A
Phenotype: Depression (HP:0000716)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES (OMIM:620242)
Gene: ATP9A
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES (OMIM:620242)
Gene: ATP9A
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES (OMIM:620242)
Gene: ATP9A
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES (OMIM:620242)
Gene: ATP9A
Phenotype: 2-3 toe cutaneous syndactyly (HP:0005709)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES (OMIM:620242)
Gene: ATP9A
Phenotype: Epicanthus (HP:0000286)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES (OMIM:620242)
Gene: ATP9A
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES (OMIM:620242)