TaoMedAI/RareMedData huggingface dataset:
Gene: PLAAT3
Phenotype: Low-set ears (HP:0000369)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Deeply set eye (HP:0000490)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Short neck (HP:0000470)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Prominent nose (HP:0000448)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Pes cavus (HP:0001761)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: GLMN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GLOMUVENOUS MALFORMATIONS (OMIM:138000)
Gene: GLMN
Phenotype: Gastrointestinal arteriovenous malformation (HP:0002629)
Associated disease: Venous malformations with glomus cells; Multiple glomus tumors; Glomuvenous malformation; Glomangiomatosis; Hereditary multiple glomangiomas; VMGLOM (ORPHA:83454)
Gene: GLMN
Phenotype: Abnormal tracheal morphology (HP:0002778)
Associated disease: Venous malformations with glomus cells; Multiple glomus tumors; Glomuvenous malformation; Glomangiomatosis; Hereditary multiple glomangiomas; VMGLOM (ORPHA:83454)
Gene: GLMN
Phenotype: Abnormal nasal cavity morphology (HP:0010640)
Associated disease: Venous malformations with glomus cells; Multiple glomus tumors; Glomuvenous malformation; Glomangiomatosis; Hereditary multiple glomangiomas; VMGLOM (ORPHA:83454)
Gene: GLMN
Phenotype: Skin nodule (HP:0200036)
Associated disease: Venous malformations with glomus cells; Multiple glomus tumors; Glomuvenous malformation; Glomangiomatosis; Hereditary multiple glomangiomas; VMGLOM (ORPHA:83454)
Gene: GLMN
Phenotype: Skin plaque (HP:0200035)
Associated disease: Venous malformations with glomus cells; Multiple glomus tumors; Glomuvenous malformation; Glomangiomatosis; Hereditary multiple glomangiomas; VMGLOM (ORPHA:83454)
Gene: GLMN
Phenotype: Papule (HP:0200034)
Associated disease: Venous malformations with glomus cells; Multiple glomus tumors; Glomuvenous malformation; Glomangiomatosis; Hereditary multiple glomangiomas; VMGLOM (ORPHA:83454)
Gene: GLMN
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: GLOMUVENOUS MALFORMATIONS (OMIM:138000)
Gene: GLMN
Phenotype: Localized skin lesion (HP:0011355)
Associated disease: Venous malformations with glomus cells; Multiple glomus tumors; Glomuvenous malformation; Glomangiomatosis; Hereditary multiple glomangiomas; VMGLOM (ORPHA:83454)
Gene: GLMN
Phenotype: Generalized abnormality of skin (HP:0011354)
Associated disease: Venous malformations with glomus cells; Multiple glomus tumors; Glomuvenous malformation; Glomangiomatosis; Hereditary multiple glomangiomas; VMGLOM (ORPHA:83454)
Gene: GLMN
Phenotype: Venous malformation (HP:0012721)
Associated disease: Venous malformations with glomus cells; Multiple glomus tumors; Glomuvenous malformation; Glomangiomatosis; Hereditary multiple glomangiomas; VMGLOM (ORPHA:83454)
Gene: GLMN
Phenotype: Arteriovenous malformation (HP:0100026)
Associated disease: Venous malformations with glomus cells; Multiple glomus tumors; Glomuvenous malformation; Glomangiomatosis; Hereditary multiple glomangiomas; VMGLOM (ORPHA:83454)
Gene: GLMN
Phenotype: Abnormal mediastinum morphology (HP:0045026)
Associated disease: Venous malformations with glomus cells; Multiple glomus tumors; Glomuvenous malformation; Glomangiomatosis; Hereditary multiple glomangiomas; VMGLOM (ORPHA:83454)
Gene: GLMN
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: GLOMUVENOUS MALFORMATIONS (OMIM:138000)
Gene: GLMN
Phenotype: Abnormality of the upper limb (HP:0002817)
Associated disease: Venous malformations with glomus cells; Multiple glomus tumors; Glomuvenous malformation; Glomangiomatosis; Hereditary multiple glomangiomas; VMGLOM (ORPHA:83454)
Gene: GLMN
Phenotype: Abnormality of the lower limb (HP:0002814)
Associated disease: Venous malformations with glomus cells; Multiple glomus tumors; Glomuvenous malformation; Glomangiomatosis; Hereditary multiple glomangiomas; VMGLOM (ORPHA:83454)
Gene: GLMN
Phenotype: Abnormal renal morphology (HP:0012210)
Associated disease: Venous malformations with glomus cells; Multiple glomus tumors; Glomuvenous malformation; Glomangiomatosis; Hereditary multiple glomangiomas; VMGLOM (ORPHA:83454)
Gene: GLMN
Phenotype: Oral mucosa nodule (HP:0031445)
Associated disease: Venous malformations with glomus cells; Multiple glomus tumors; Glomuvenous malformation; Glomangiomatosis; Hereditary multiple glomangiomas; VMGLOM (ORPHA:83454)
Gene: GLMN
Phenotype: Abnormal digit morphology (HP:0011297)
Associated disease: Venous malformations with glomus cells; Multiple glomus tumors; Glomuvenous malformation; Glomangiomatosis; Hereditary multiple glomangiomas; VMGLOM (ORPHA:83454)
Gene: POPDC1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 25 (OMIM:616812)
Gene: POPDC1
Phenotype: Muscle fiber necrosis (HP:0003713)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 25 (OMIM:616812)
Gene: POPDC1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 25 (OMIM:616812)
Gene: POPDC1
Phenotype: Syncope (HP:0001279)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 25 (OMIM:616812)
Gene: POPDC1
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 25 (OMIM:616812)
Gene: POPDC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 25 (OMIM:616812)
Gene: POPDC1
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 25 (OMIM:616812)
Gene: POPDC1
Phenotype: Myalgia (HP:0003326)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 25 (OMIM:616812)
Gene: POPDC1
Phenotype: Second degree atrioventricular block (HP:0011706)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 25 (OMIM:616812)
Gene: POPDC1
Phenotype: Middle age onset (HP:0003596)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 25 (OMIM:616812)
Gene: POPDC1
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 25 (OMIM:616812)
Gene: POPDC1
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 25 (OMIM:616812)
Gene: POPDC1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 25 (OMIM:616812)
Gene: POPDC1
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 25 (OMIM:616812)
Gene: POPDC1
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 25 (OMIM:616812)
Gene: POPDC1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 25 (OMIM:616812)
Gene: POPDC1
Phenotype: Palpitations (HP:0001962)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 25 (OMIM:616812)
Gene: POPDC1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 25 (OMIM:616812)
Gene: POPDC1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 25 (OMIM:616812)
Gene: POPDC1
Phenotype: Sinus bradycardia (HP:0001688)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 25 (OMIM:616812)
Gene: POPDC1
Phenotype: Early young adult onset (HP:0025708)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 25 (OMIM:616812)
Gene: CORO1A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: IMMUNODEFICIENCY 8 (OMIM:615401)
Gene: CORO1A
Phenotype: Complete or near-complete absence of specific antibody response to tetanus vaccine (HP:0410295)
Associated disease: IMMUNODEFICIENCY 8 (OMIM:615401)
Gene: CORO1A
Phenotype: Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine (HP:0410300)
Associated disease: IMMUNODEFICIENCY 8 (OMIM:615401)
Gene: CORO1A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 8 (OMIM:615401)
Gene: CORO1A
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: IMMUNODEFICIENCY 8 (OMIM:615401)
Gene: CORO1A
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: IMMUNODEFICIENCY 8 (OMIM:615401)
Gene: CORO1A
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY 8 (OMIM:615401)
Gene: CORO1A
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: IMMUNODEFICIENCY 8 (OMIM:615401)
Gene: CORO1A
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 8 (OMIM:615401)
Gene: CORO1A
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: IMMUNODEFICIENCY 8 (OMIM:615401)
Gene: CORO1A
Phenotype: Chronic oral candidiasis (HP:0009098)
Associated disease: IMMUNODEFICIENCY 8 (OMIM:615401)
Gene: CORO1A
Phenotype: Post-vaccination varicella zoster virus infection (HP:4000166)
Associated disease: IMMUNODEFICIENCY 8 (OMIM:615401)
Gene: CORO1A
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: IMMUNODEFICIENCY 8 (OMIM:615401)
Gene: CORO1A
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: IMMUNODEFICIENCY 8 (OMIM:615401)
Gene: WDR45
Phenotype: Poor speech (HP:0002465)
Associated disease: BPAN; Static encephalopathy of childhood with neurodegeneration in adulthood; Neurodegeneration with brain iron accumulation type 5; SENDA; Beta-propeller protein-associated neurodegeneration; NBIA5 (ORPHA:329284)
Gene: WDR45
Phenotype: Poor speech (HP:0002465)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 (OMIM:300894)
Gene: WDR45
Phenotype: Eye of the tiger anomaly of globus pallidus (HP:0002454)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 (OMIM:300894)
Gene: WDR45
Phenotype: Progressive encephalopathy (HP:0002448)
Associated disease: BPAN; Static encephalopathy of childhood with neurodegeneration in adulthood; Neurodegeneration with brain iron accumulation type 5; SENDA; Beta-propeller protein-associated neurodegeneration; NBIA5 (ORPHA:329284)
Gene: WDR45
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: BPAN; Static encephalopathy of childhood with neurodegeneration in adulthood; Neurodegeneration with brain iron accumulation type 5; SENDA; Beta-propeller protein-associated neurodegeneration; NBIA5 (ORPHA:329284)
Gene: WDR45
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 (OMIM:300894)
Gene: WDR45
Phenotype: Mental deterioration (HP:0001268)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 (OMIM:300894)
Gene: WDR45
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 (OMIM:300894)
Gene: WDR45
Phenotype: Seizure (HP:0001250)
Associated disease: BPAN; Static encephalopathy of childhood with neurodegeneration in adulthood; Neurodegeneration with brain iron accumulation type 5; SENDA; Beta-propeller protein-associated neurodegeneration; NBIA5 (ORPHA:329284)
Gene: WDR45
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 (OMIM:300894)
Gene: WDR45
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BPAN; Static encephalopathy of childhood with neurodegeneration in adulthood; Neurodegeneration with brain iron accumulation type 5; SENDA; Beta-propeller protein-associated neurodegeneration; NBIA5 (ORPHA:329284)
Gene: WDR45
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 (OMIM:300894)
Gene: WDR45
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BPAN; Static encephalopathy of childhood with neurodegeneration in adulthood; Neurodegeneration with brain iron accumulation type 5; SENDA; Beta-propeller protein-associated neurodegeneration; NBIA5 (ORPHA:329284)
Gene: WDR45
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease:  (ORPHA:697160)
Gene: WDR45
Phenotype: Dystonia (HP:0001332)
Associated disease: BPAN; Static encephalopathy of childhood with neurodegeneration in adulthood; Neurodegeneration with brain iron accumulation type 5; SENDA; Beta-propeller protein-associated neurodegeneration; NBIA5 (ORPHA:329284)
Gene: WDR45
Phenotype: Dystonia (HP:0001332)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 (OMIM:300894)
Gene: WDR45
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 (OMIM:300894)
Gene: WDR45
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE VII (OMIM:615179)
Gene: WDR45
Phenotype: Tremor (HP:0001337)
Associated disease: BPAN; Static encephalopathy of childhood with neurodegeneration in adulthood; Neurodegeneration with brain iron accumulation type 5; SENDA; Beta-propeller protein-associated neurodegeneration; NBIA5 (ORPHA:329284)
Gene: WDR45
Phenotype: Tremor (HP:0001337)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 (OMIM:300894)
Gene: WDR45
Phenotype: Myoclonus (HP:0001336)
Associated disease:  (ORPHA:697160)
Gene: WDR45
Phenotype: Parkinsonism (HP:0001300)
Associated disease: BPAN; Static encephalopathy of childhood with neurodegeneration in adulthood; Neurodegeneration with brain iron accumulation type 5; SENDA; Beta-propeller protein-associated neurodegeneration; NBIA5 (ORPHA:329284)
Gene: WDR45
Phenotype: Parkinsonism (HP:0001300)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 (OMIM:300894)
Gene: WDR45
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE VII (OMIM:615179)
Gene: WDR45
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 (OMIM:300894)
Gene: WDR45
Phenotype: Bradykinesia (HP:0002067)
Associated disease: BPAN; Static encephalopathy of childhood with neurodegeneration in adulthood; Neurodegeneration with brain iron accumulation type 5; SENDA; Beta-propeller protein-associated neurodegeneration; NBIA5 (ORPHA:329284)
Gene: WDR45
Phenotype: Bradykinesia (HP:0002067)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 (OMIM:300894)
Gene: WDR45
Phenotype: Rigidity (HP:0002063)
Associated disease: BPAN; Static encephalopathy of childhood with neurodegeneration in adulthood; Neurodegeneration with brain iron accumulation type 5; SENDA; Beta-propeller protein-associated neurodegeneration; NBIA5 (ORPHA:329284)
Gene: WDR45
Phenotype: Rigidity (HP:0002063)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 (OMIM:300894)
Gene: WDR45
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: BPAN; Static encephalopathy of childhood with neurodegeneration in adulthood; Neurodegeneration with brain iron accumulation type 5; SENDA; Beta-propeller protein-associated neurodegeneration; NBIA5 (ORPHA:329284)
Gene: WDR45
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 (OMIM:300894)
Gene: WDR45
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 (OMIM:300894)
Gene: WDR45
Phenotype: Abnormal postural reflex (HP:0033329)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 (OMIM:300894)
Gene: WDR45
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: BPAN; Static encephalopathy of childhood with neurodegeneration in adulthood; Neurodegeneration with brain iron accumulation type 5; SENDA; Beta-propeller protein-associated neurodegeneration; NBIA5 (ORPHA:329284)
Gene: WDR45
Phenotype: Developmental regression (HP:0002376)
Associated disease:  (ORPHA:697160)
Gene: WDR45
Phenotype: Albinism (HP:0001022)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE VII (OMIM:615179)
Gene: WDR45
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: BPAN; Static encephalopathy of childhood with neurodegeneration in adulthood; Neurodegeneration with brain iron accumulation type 5; SENDA; Beta-propeller protein-associated neurodegeneration; NBIA5 (ORPHA:329284)
Gene: WDR45
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 (OMIM:300894)
Gene: WDR45
Phenotype: High hypermetropia (HP:0008499)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE VII (OMIM:615179)
Gene: WDR45
Phenotype: Akinesia (HP:0002304)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 (OMIM:300894)
Gene: WDR45
Phenotype: Nystagmus (HP:0000639)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE VII (OMIM:615179)
Gene: WDR45
Phenotype: Optic atrophy (HP:0000648)
Associated disease: BPAN; Static encephalopathy of childhood with neurodegeneration in adulthood; Neurodegeneration with brain iron accumulation type 5; SENDA; Beta-propeller protein-associated neurodegeneration; NBIA5 (ORPHA:329284)
Gene: WDR45
Phenotype: Photophobia (HP:0000613)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE VII (OMIM:615179)
Gene: WDR45
Phenotype: Iron accumulation in brain (HP:0012675)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 (OMIM:300894)
Gene: WDR45
Phenotype: Iron accumulation in brain (HP:0012675)
Associated disease: BPAN; Static encephalopathy of childhood with neurodegeneration in adulthood; Neurodegeneration with brain iron accumulation type 5; SENDA; Beta-propeller protein-associated neurodegeneration; NBIA5 (ORPHA:329284)
Gene: WDR45
Phenotype: Iron accumulation in substantia nigra (HP:0012678)
Associated disease: BPAN; Static encephalopathy of childhood with neurodegeneration in adulthood; Neurodegeneration with brain iron accumulation type 5; SENDA; Beta-propeller protein-associated neurodegeneration; NBIA5 (ORPHA:329284)
Gene: WDR45
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 (OMIM:300894)
Gene: WDR45
Phenotype: Anxiety (HP:0000739)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 (OMIM:300894)
Gene: WDR45
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 (OMIM:300894)
Gene: WDR45
Phenotype: Frontal release signs (HP:0000743)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 (OMIM:300894)
Gene: WDR45
Phenotype: Frontal release signs (HP:0000743)
Associated disease: BPAN; Static encephalopathy of childhood with neurodegeneration in adulthood; Neurodegeneration with brain iron accumulation type 5; SENDA; Beta-propeller protein-associated neurodegeneration; NBIA5 (ORPHA:329284)
Gene: WDR45
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 (OMIM:300894)
Gene: WDR45
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: BPAN; Static encephalopathy of childhood with neurodegeneration in adulthood; Neurodegeneration with brain iron accumulation type 5; SENDA; Beta-propeller protein-associated neurodegeneration; NBIA5 (ORPHA:329284)
Gene: WDR45
Phenotype: Dementia (HP:0000726)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 (OMIM:300894)
Gene: WDR45
Phenotype: Dementia (HP:0000726)
Associated disease: BPAN; Static encephalopathy of childhood with neurodegeneration in adulthood; Neurodegeneration with brain iron accumulation type 5; SENDA; Beta-propeller protein-associated neurodegeneration; NBIA5 (ORPHA:329284)
Gene: WDR45
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease:  (ORPHA:697160)
Gene: WDR45
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 (OMIM:300894)
Gene: WDR45
Phenotype: Iris transillumination defect (HP:0012805)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE VII (OMIM:615179)
Gene: WDR45
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: BPAN; Static encephalopathy of childhood with neurodegeneration in adulthood; Neurodegeneration with brain iron accumulation type 5; SENDA; Beta-propeller protein-associated neurodegeneration; NBIA5 (ORPHA:329284)
Gene: WDR45
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 (OMIM:300894)
Gene: WDR45
Phenotype: Infantile spasms (HP:0012469)
Associated disease:  (ORPHA:697160)
Gene: WDR45
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: BPAN; Static encephalopathy of childhood with neurodegeneration in adulthood; Neurodegeneration with brain iron accumulation type 5; SENDA; Beta-propeller protein-associated neurodegeneration; NBIA5 (ORPHA:329284)
Gene: WDR45
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 (OMIM:300894)
Gene: WDR45
Phenotype: Abnormal skin morphology (HP:0011121)
Associated disease:  (ORPHA:697160)
Gene: WDR45
Phenotype: Exotropia (HP:0000577)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE VII (OMIM:615179)
Gene: WDR45
Phenotype: Esotropia (HP:0000565)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE VII (OMIM:615179)
Gene: AP4S1
Phenotype: Poor speech (HP:0002465)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4S1
Phenotype: Spastic dysarthria (HP:0002464)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4S1
Phenotype: Excessive shyness (HP:0100962)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4S1
Phenotype: Excessive shyness (HP:0100962)
Associated disease: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
Gene: AP4S1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
Gene: AP4S1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4S1
Phenotype: Hypertonia (HP:0001276)
Associated disease: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
Gene: AP4S1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4S1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4S1
Phenotype: Seizure (HP:0001250)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4S1
Phenotype: Hypotonia (HP:0001252)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4S1
Phenotype: Hypotonia (HP:0001252)
Associated disease: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
Gene: AP4S1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)