TaoMedAI/RareMedData huggingface dataset:
Gene: ZFYVE26
Phenotype: Seizure (HP:0001250)
Associated disease: Hereditary spastic paraparesis type 15; Autosomal recessive spastic paraplegia type 15; SPG15; Spastic paraplegia-retinal degeneration syndrome; Kjellin syndrome (ORPHA:100996)
Gene: ZFYVE26
Phenotype: Ataxia (HP:0001251)
Associated disease: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE (OMIM:270700)
Gene: ZFYVE26
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE (OMIM:270700)
Gene: ZFYVE26
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Hereditary spastic paraparesis type 15; Autosomal recessive spastic paraplegia type 15; SPG15; Spastic paraplegia-retinal degeneration syndrome; Kjellin syndrome (ORPHA:100996)
Gene: ZFYVE26
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE (OMIM:270700)
Gene: ZFYVE26
Phenotype: Dysarthria (HP:0001260)
Associated disease: Hereditary spastic paraparesis type 15; Autosomal recessive spastic paraplegia type 15; SPG15; Spastic paraplegia-retinal degeneration syndrome; Kjellin syndrome (ORPHA:100996)
Gene: ZFYVE26
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE (OMIM:270700)
Gene: ZFYVE26
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: Hereditary spastic paraparesis type 15; Autosomal recessive spastic paraplegia type 15; SPG15; Spastic paraplegia-retinal degeneration syndrome; Kjellin syndrome (ORPHA:100996)
Gene: ZFYVE26
Phenotype: Spasticity (HP:0001257)
Associated disease: Hereditary spastic paraparesis type 15; Autosomal recessive spastic paraplegia type 15; SPG15; Spastic paraplegia-retinal degeneration syndrome; Kjellin syndrome (ORPHA:100996)
Gene: ZFYVE26
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE (OMIM:270700)
Gene: ZFYVE26
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Hereditary spastic paraparesis type 15; Autosomal recessive spastic paraplegia type 15; SPG15; Spastic paraplegia-retinal degeneration syndrome; Kjellin syndrome (ORPHA:100996)
Gene: ZFYVE26
Phenotype: Retinal flecks (HP:0012045)
Associated disease: Hereditary spastic paraparesis type 15; Autosomal recessive spastic paraplegia type 15; SPG15; Spastic paraplegia-retinal degeneration syndrome; Kjellin syndrome (ORPHA:100996)
Gene: ZFYVE26
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE (OMIM:270700)
Gene: ZFYVE26
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE (OMIM:270700)
Gene: ZFYVE26
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Hereditary spastic paraparesis type 15; Autosomal recessive spastic paraplegia type 15; SPG15; Spastic paraplegia-retinal degeneration syndrome; Kjellin syndrome (ORPHA:100996)
Gene: ZFYVE26
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Hereditary spastic paraparesis type 15; Autosomal recessive spastic paraplegia type 15; SPG15; Spastic paraplegia-retinal degeneration syndrome; Kjellin syndrome (ORPHA:100996)
Gene: ZFYVE26
Phenotype: Urinary urgency (HP:0000012)
Associated disease: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE (OMIM:270700)
Gene: ZFYVE26
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE (OMIM:270700)
Gene: ZFYVE26
Phenotype: Functional abnormality of the bladder (HP:0000009)
Associated disease: Hereditary spastic paraparesis type 15; Autosomal recessive spastic paraplegia type 15; SPG15; Spastic paraplegia-retinal degeneration syndrome; Kjellin syndrome (ORPHA:100996)
Gene: ZFYVE26
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE (OMIM:270700)
Gene: ZFYVE26
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Hereditary spastic paraparesis type 15; Autosomal recessive spastic paraplegia type 15; SPG15; Spastic paraplegia-retinal degeneration syndrome; Kjellin syndrome (ORPHA:100996)
Gene: ZFYVE26
Phenotype: Bowel incontinence (HP:0002607)
Associated disease: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE (OMIM:270700)
Gene: ZFYVE26
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE (OMIM:270700)
Gene: ZFYVE26
Phenotype: Leg muscle stiffness (HP:0008969)
Associated disease: Hereditary spastic paraparesis type 15; Autosomal recessive spastic paraplegia type 15; SPG15; Spastic paraplegia-retinal degeneration syndrome; Kjellin syndrome (ORPHA:100996)
Gene: ZFYVE26
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Hereditary spastic paraparesis type 15; Autosomal recessive spastic paraplegia type 15; SPG15; Spastic paraplegia-retinal degeneration syndrome; Kjellin syndrome (ORPHA:100996)
Gene: ZFYVE26
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE (OMIM:270700)
Gene: ZFYVE26
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE (OMIM:270700)
Gene: ZFYVE26
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Hereditary spastic paraparesis type 15; Autosomal recessive spastic paraplegia type 15; SPG15; Spastic paraplegia-retinal degeneration syndrome; Kjellin syndrome (ORPHA:100996)
Gene: ZFYVE26
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE (OMIM:270700)
Gene: ZFYVE26
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Hereditary spastic paraparesis type 15; Autosomal recessive spastic paraplegia type 15; SPG15; Spastic paraplegia-retinal degeneration syndrome; Kjellin syndrome (ORPHA:100996)
Gene: ZFYVE26
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Hereditary spastic paraparesis type 15; Autosomal recessive spastic paraplegia type 15; SPG15; Spastic paraplegia-retinal degeneration syndrome; Kjellin syndrome (ORPHA:100996)
Gene: ZFYVE26
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE (OMIM:270700)
Gene: ZFYVE26
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Hereditary spastic paraparesis type 15; Autosomal recessive spastic paraplegia type 15; SPG15; Spastic paraplegia-retinal degeneration syndrome; Kjellin syndrome (ORPHA:100996)
Gene: ZFYVE26
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Hereditary spastic paraparesis type 15; Autosomal recessive spastic paraplegia type 15; SPG15; Spastic paraplegia-retinal degeneration syndrome; Kjellin syndrome (ORPHA:100996)
Gene: ZFYVE26
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE (OMIM:270700)
Gene: ZFYVE26
Phenotype: Babinski sign (HP:0003487)
Associated disease: Hereditary spastic paraparesis type 15; Autosomal recessive spastic paraplegia type 15; SPG15; Spastic paraplegia-retinal degeneration syndrome; Kjellin syndrome (ORPHA:100996)
Gene: ZFYVE26
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Hereditary spastic paraparesis type 15; Autosomal recessive spastic paraplegia type 15; SPG15; Spastic paraplegia-retinal degeneration syndrome; Kjellin syndrome (ORPHA:100996)
Gene: ZFYVE26
Phenotype: Clonus (HP:0002169)
Associated disease: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE (OMIM:270700)
Gene: ZFYVE26
Phenotype: Paraplegia (HP:0010550)
Associated disease: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE (OMIM:270700)
Gene: ZFYVE26
Phenotype: Pseudobulbar paralysis (HP:0007024)
Associated disease: Hereditary spastic paraparesis type 15; Autosomal recessive spastic paraplegia type 15; SPG15; Spastic paraplegia-retinal degeneration syndrome; Kjellin syndrome (ORPHA:100996)
Gene: ZFYVE26
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: Hereditary spastic paraparesis type 15; Autosomal recessive spastic paraplegia type 15; SPG15; Spastic paraplegia-retinal degeneration syndrome; Kjellin syndrome (ORPHA:100996)
Gene: ZFYVE26
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE (OMIM:270700)
Gene: ZFYVE26
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Hereditary spastic paraparesis type 15; Autosomal recessive spastic paraplegia type 15; SPG15; Spastic paraplegia-retinal degeneration syndrome; Kjellin syndrome (ORPHA:100996)
Gene: ZFYVE26
Phenotype: Hand tremor (HP:0002378)
Associated disease: Hereditary spastic paraparesis type 15; Autosomal recessive spastic paraplegia type 15; SPG15; Spastic paraplegia-retinal degeneration syndrome; Kjellin syndrome (ORPHA:100996)
Gene: ZFYVE26
Phenotype: Progressive (HP:0003676)
Associated disease: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE (OMIM:270700)
Gene: ZFYVE26
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
Associated disease: Hereditary spastic paraparesis type 15; Autosomal recessive spastic paraplegia type 15; SPG15; Spastic paraplegia-retinal degeneration syndrome; Kjellin syndrome (ORPHA:100996)
Gene: ZFYVE26
Phenotype: Yellow/white lesions of the retina (HP:0030506)
Associated disease: Hereditary spastic paraparesis type 15; Autosomal recessive spastic paraplegia type 15; SPG15; Spastic paraplegia-retinal degeneration syndrome; Kjellin syndrome (ORPHA:100996)
Gene: ZFYVE26
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE (OMIM:270700)
Gene: ZFYVE26
Phenotype: Nystagmus (HP:0000639)
Associated disease: Hereditary spastic paraparesis type 15; Autosomal recessive spastic paraplegia type 15; SPG15; Spastic paraplegia-retinal degeneration syndrome; Kjellin syndrome (ORPHA:100996)
Gene: ZFYVE26
Phenotype: Macular degeneration (HP:0000608)
Associated disease: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE (OMIM:270700)
Gene: ZFYVE26
Phenotype: Upper limb spasticity (HP:0006986)
Associated disease: Hereditary spastic paraparesis type 15; Autosomal recessive spastic paraplegia type 15; SPG15; Spastic paraplegia-retinal degeneration syndrome; Kjellin syndrome (ORPHA:100996)
Gene: ZFYVE26
Phenotype: Emotional lability (HP:0000712)
Associated disease: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE (OMIM:270700)
Gene: ZFYVE26
Phenotype: Dementia (HP:0000726)
Associated disease: Hereditary spastic paraparesis type 15; Autosomal recessive spastic paraplegia type 15; SPG15; Spastic paraplegia-retinal degeneration syndrome; Kjellin syndrome (ORPHA:100996)
Gene: ZFYVE26
Phenotype: Psychosis (HP:0000709)
Associated disease: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE (OMIM:270700)
Gene: ZFYVE26
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Hereditary spastic paraparesis type 15; Autosomal recessive spastic paraplegia type 15; SPG15; Spastic paraplegia-retinal degeneration syndrome; Kjellin syndrome (ORPHA:100996)
Gene: ZFYVE26
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Hereditary spastic paraparesis type 15; Autosomal recessive spastic paraplegia type 15; SPG15; Spastic paraplegia-retinal degeneration syndrome; Kjellin syndrome (ORPHA:100996)
Gene: ZFYVE26
Phenotype: Deep cerebral white matter hyperintensities (HP:0030892)
Associated disease: Hereditary spastic paraparesis type 15; Autosomal recessive spastic paraplegia type 15; SPG15; Spastic paraplegia-retinal degeneration syndrome; Kjellin syndrome (ORPHA:100996)
Gene: ZFYVE26
Phenotype: Urinary bladder sphincter dysfunction (HP:0002839)
Associated disease: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE (OMIM:270700)
Gene: ZFYVE26
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Hereditary spastic paraparesis type 15; Autosomal recessive spastic paraplegia type 15; SPG15; Spastic paraplegia-retinal degeneration syndrome; Kjellin syndrome (ORPHA:100996)
Gene: ZFYVE26
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE (OMIM:270700)
Gene: ZFYVE26
Phenotype: Pes cavus (HP:0001761)
Associated disease: Hereditary spastic paraparesis type 15; Autosomal recessive spastic paraplegia type 15; SPG15; Spastic paraplegia-retinal degeneration syndrome; Kjellin syndrome (ORPHA:100996)
Gene: ZFYVE26
Phenotype: Visual impairment (HP:0000505)
Associated disease: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE (OMIM:270700)
Gene: ZFYVE26
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: Hereditary spastic paraparesis type 15; Autosomal recessive spastic paraplegia type 15; SPG15; Spastic paraplegia-retinal degeneration syndrome; Kjellin syndrome (ORPHA:100996)
Gene: ZFYVE26
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE (OMIM:270700)
Gene: POFUT1
Phenotype: Abnormality of the hand (HP:0001155)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POFUT1
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POFUT1
Phenotype: Arthritis (HP:0001369)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POFUT1
Phenotype: Follicular hyperkeratosis (HP:0007502)
Associated disease: DOWLING-DEGOS DISEASE 2 (OMIM:615327)
Gene: POFUT1
Phenotype: Progressive reticulate hyperpigmentation (HP:0007456)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POFUT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DOWLING-DEGOS DISEASE 2 (OMIM:615327)
Gene: POFUT1
Phenotype: Hyperpigmented papule (HP:0025473)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POFUT1
Phenotype: Digital pitting scar (HP:0031293)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POFUT1
Phenotype: Reticular hyperpigmentation (HP:0007588)
Associated disease: DOWLING-DEGOS DISEASE 2 (OMIM:615327)
Gene: POFUT1
Phenotype: Heat intolerance (HP:0002046)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POFUT1
Phenotype: Hypomelanotic macule (HP:0009719)
Associated disease: DOWLING-DEGOS DISEASE 2 (OMIM:615327)
Gene: POFUT1
Phenotype: Palmar pits (HP:0010610)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POFUT1
Phenotype: Hypopigmented macule (HP:0020073)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POFUT1
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POFUT1
Phenotype: Skin vesicle (HP:0200037)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POFUT1
Phenotype: Epidermoid cyst (HP:0200040)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POFUT1
Phenotype: Generalized abnormality of skin (HP:0011354)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POFUT1
Phenotype: Mixed hypo- and hyperpigmentation of the skin (HP:0009123)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POFUT1
Phenotype: Scrotal hyperpigmentation (HP:0012855)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POFUT1
Phenotype: Hyperkeratotic papule (HP:0045059)
Associated disease: DOWLING-DEGOS DISEASE 2 (OMIM:615327)
Gene: POFUT1
Phenotype: Hyperkeratotic papule (HP:0045059)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POFUT1
Phenotype: Pruritus (HP:0000989)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POFUT1
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POFUT1
Phenotype: Acne inversa (HP:0040154)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POFUT1
Phenotype: Inguinal freckling (HP:0030052)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POFUT1
Phenotype: Keratoacanthoma (HP:0031525)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POFUT1
Phenotype: Penile freckling (HP:0031447)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POFUT1
Phenotype: Abnormality of the neck (HP:0000464)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POFUT1
Phenotype: Anal margin squamous cell carcinoma (HP:0030442)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POFUT1
Phenotype: Erythematous papule (HP:0030350)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: NUP188
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: SANDESTIG-STEFANOVA SYNDROME (OMIM:618804)
Gene: NUP188
Phenotype: Sparse medial eyebrow (HP:0025325)
Associated disease: SANDESTIG-STEFANOVA SYNDROME (OMIM:618804)
Gene: NUP188
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SANDESTIG-STEFANOVA SYNDROME (OMIM:618804)
Gene: NUP188
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: SANDESTIG-STEFANOVA SYNDROME (OMIM:618804)
Gene: NUP188
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SANDESTIG-STEFANOVA SYNDROME (OMIM:618804)
Gene: NUP188
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: SANDESTIG-STEFANOVA SYNDROME (OMIM:618804)
Gene: NUP188
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: SANDESTIG-STEFANOVA SYNDROME (OMIM:618804)
Gene: NUP188
Phenotype: EEG abnormality (HP:0002353)
Associated disease: SANDESTIG-STEFANOVA SYNDROME (OMIM:618804)
Gene: NUP188
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: SANDESTIG-STEFANOVA SYNDROME (OMIM:618804)
Gene: NUP188
Phenotype: Muscular ventricular septal defect (HP:0011623)
Associated disease: SANDESTIG-STEFANOVA SYNDROME (OMIM:618804)
Gene: NUP188
Phenotype: Perimembranous ventricular septal defect (HP:0011682)
Associated disease: SANDESTIG-STEFANOVA SYNDROME (OMIM:618804)
Gene: NUP188
Phenotype: Epicanthus (HP:0000286)
Associated disease: SANDESTIG-STEFANOVA SYNDROME (OMIM:618804)
Gene: NUP188
Phenotype: Retrognathia (HP:0000278)
Associated disease: SANDESTIG-STEFANOVA SYNDROME (OMIM:618804)
Gene: NUP188
Phenotype: Clinodactyly (HP:0030084)
Associated disease: SANDESTIG-STEFANOVA SYNDROME (OMIM:618804)
Gene: NUP188
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: SANDESTIG-STEFANOVA SYNDROME (OMIM:618804)
Gene: NUP188
Phenotype: Respiratory failure (HP:0002878)
Associated disease: SANDESTIG-STEFANOVA SYNDROME (OMIM:618804)
Gene: NUP188
Phenotype: High palate (HP:0000218)
Associated disease: SANDESTIG-STEFANOVA SYNDROME (OMIM:618804)
Gene: NUP188
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: SANDESTIG-STEFANOVA SYNDROME (OMIM:618804)
Gene: NUP188
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: SANDESTIG-STEFANOVA SYNDROME (OMIM:618804)
Gene: NUP188
Phenotype: Small for gestational age (HP:0001518)
Associated disease: SANDESTIG-STEFANOVA SYNDROME (OMIM:618804)
Gene: NUP188
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: SANDESTIG-STEFANOVA SYNDROME (OMIM:618804)
Gene: NUP188
Phenotype: Camptodactyly (HP:0012385)
Associated disease: SANDESTIG-STEFANOVA SYNDROME (OMIM:618804)
Gene: NUP188
Phenotype: Low-set ears (HP:0000369)
Associated disease: SANDESTIG-STEFANOVA SYNDROME (OMIM:618804)
Gene: NUP188
Phenotype: Narrow forehead (HP:0000341)
Associated disease: SANDESTIG-STEFANOVA SYNDROME (OMIM:618804)
Gene: NUP188
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: SANDESTIG-STEFANOVA SYNDROME (OMIM:618804)
Gene: NUP188
Phenotype: Short neck (HP:0000470)
Associated disease: SANDESTIG-STEFANOVA SYNDROME (OMIM:618804)
Gene: NUP188
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: SANDESTIG-STEFANOVA SYNDROME (OMIM:618804)
Gene: NUP188
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: SANDESTIG-STEFANOVA SYNDROME (OMIM:618804)
Gene: NUP188
Phenotype: Underdeveloped tragus (HP:0011272)
Associated disease: SANDESTIG-STEFANOVA SYNDROME (OMIM:618804)
Gene: NUP188
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: SANDESTIG-STEFANOVA SYNDROME (OMIM:618804)
Gene: NUP188
Phenotype: Developmental cataract (HP:0000519)
Associated disease: SANDESTIG-STEFANOVA SYNDROME (OMIM:618804)
Gene: NUP188
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: SANDESTIG-STEFANOVA SYNDROME (OMIM:618804)
Gene: NUP188
Phenotype: Angulated antihelix (HP:0011236)
Associated disease: SANDESTIG-STEFANOVA SYNDROME (OMIM:618804)
Gene: NUP188
Phenotype: Laterally extended eyebrow (HP:0011230)
Associated disease: SANDESTIG-STEFANOVA SYNDROME (OMIM:618804)
Gene: NUP188
Phenotype: Microphthalmia (HP:0000568)
Associated disease: SANDESTIG-STEFANOVA SYNDROME (OMIM:618804)
Gene: SUZ12
Phenotype: Large hands (HP:0001176)
Associated disease: IMAGAWA-MATSUMOTO SYNDROME (OMIM:618786)
Gene: SUZ12
Phenotype: Large hands (HP:0001176)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: SUZ12
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: IMAGAWA-MATSUMOTO SYNDROME (OMIM:618786)
Gene: SUZ12
Phenotype: Hypertonia (HP:0001276)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: SUZ12
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: IMAGAWA-MATSUMOTO SYNDROME (OMIM:618786)
Gene: SUZ12
Phenotype: Intellectual disability (HP:0001249)
Associated disease: IMAGAWA-MATSUMOTO SYNDROME (OMIM:618786)
Gene: SUZ12
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: SUZ12
Phenotype: Global developmental delay (HP:0001263)
Associated disease: IMAGAWA-MATSUMOTO SYNDROME (OMIM:618786)
Gene: SUZ12
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: SUZ12
Phenotype: Spasticity (HP:0001257)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: SUZ12
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: SUZ12
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: SUZ12
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: SUZ12
Phenotype: Tall stature (HP:0000098)
Associated disease: IMAGAWA-MATSUMOTO SYNDROME (OMIM:618786)
Gene: SUZ12
Phenotype: Tall stature (HP:0000098)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: SUZ12
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: SUZ12
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)