TaoMedAI/RareMedData huggingface dataset:
Gene: FERMT1
Phenotype: Periodontitis (HP:0000704)
Associated disease: Kindler epidermolysis bullosa; Congenital bullous poikiloderma; Kindler syndrome; Poikiloderma of Kindler (ORPHA:2908)
Gene: FERMT1
Phenotype: Periodontitis (HP:0000704)
Associated disease: KINDLER SYNDROME (OMIM:173650)
Gene: FERMT1
Phenotype: Abnormal skull morphology (HP:0000929)
Associated disease: Kindler epidermolysis bullosa; Congenital bullous poikiloderma; Kindler syndrome; Poikiloderma of Kindler (ORPHA:2908)
Gene: FERMT1
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: KINDLER SYNDROME (OMIM:173650)
Gene: FERMT1
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: KINDLER SYNDROME (OMIM:173650)
Gene: FERMT1
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Kindler epidermolysis bullosa; Congenital bullous poikiloderma; Kindler syndrome; Poikiloderma of Kindler (ORPHA:2908)
Gene: FERMT1
Phenotype: Atypical scarring of skin (HP:0000987)
Associated disease: Kindler epidermolysis bullosa; Congenital bullous poikiloderma; Kindler syndrome; Poikiloderma of Kindler (ORPHA:2908)
Gene: FERMT1
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Kindler epidermolysis bullosa; Congenital bullous poikiloderma; Kindler syndrome; Poikiloderma of Kindler (ORPHA:2908)
Gene: FERMT1
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Kindler epidermolysis bullosa; Congenital bullous poikiloderma; Kindler syndrome; Poikiloderma of Kindler (ORPHA:2908)
Gene: FERMT1
Phenotype: Aplasia/Hypoplasia of the skin (HP:0008065)
Associated disease: Kindler epidermolysis bullosa; Congenital bullous poikiloderma; Kindler syndrome; Poikiloderma of Kindler (ORPHA:2908)
Gene: FERMT1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Kindler epidermolysis bullosa; Congenital bullous poikiloderma; Kindler syndrome; Poikiloderma of Kindler (ORPHA:2908)
Gene: FERMT1
Phenotype: Turricephaly (HP:0000262)
Associated disease: Kindler epidermolysis bullosa; Congenital bullous poikiloderma; Kindler syndrome; Poikiloderma of Kindler (ORPHA:2908)
Gene: FERMT1
Phenotype: Urethral stricture (HP:0012227)
Associated disease: Kindler epidermolysis bullosa; Congenital bullous poikiloderma; Kindler syndrome; Poikiloderma of Kindler (ORPHA:2908)
Gene: FERMT1
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: Kindler epidermolysis bullosa; Congenital bullous poikiloderma; Kindler syndrome; Poikiloderma of Kindler (ORPHA:2908)
Gene: FERMT1
Phenotype: Gingivitis (HP:0000230)
Associated disease: Kindler epidermolysis bullosa; Congenital bullous poikiloderma; Kindler syndrome; Poikiloderma of Kindler (ORPHA:2908)
Gene: FERMT1
Phenotype: Gingivitis (HP:0000230)
Associated disease: KINDLER SYNDROME (OMIM:173650)
Gene: FERMT1
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: Kindler epidermolysis bullosa; Congenital bullous poikiloderma; Kindler syndrome; Poikiloderma of Kindler (ORPHA:2908)
Gene: FERMT1
Phenotype: Laryngeal stenosis (HP:0001602)
Associated disease: Kindler epidermolysis bullosa; Congenital bullous poikiloderma; Kindler syndrome; Poikiloderma of Kindler (ORPHA:2908)
Gene: FERMT1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Kindler epidermolysis bullosa; Congenital bullous poikiloderma; Kindler syndrome; Poikiloderma of Kindler (ORPHA:2908)
Gene: FERMT1
Phenotype: Phimosis (HP:0001741)
Associated disease: KINDLER SYNDROME (OMIM:173650)
Gene: FERMT1
Phenotype: Phimosis (HP:0001741)
Associated disease: Kindler epidermolysis bullosa; Congenital bullous poikiloderma; Kindler syndrome; Poikiloderma of Kindler (ORPHA:2908)
Gene: FERMT1
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Kindler epidermolysis bullosa; Congenital bullous poikiloderma; Kindler syndrome; Poikiloderma of Kindler (ORPHA:2908)
Gene: FERMT1
Phenotype: Ridged nail (HP:0001807)
Associated disease: KINDLER SYNDROME (OMIM:173650)
Gene: TASP1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Blue nevus (HP:0100814)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Seizure (HP:0001250)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Wide mouth (HP:0000154)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Palpebral thickening (HP:0030939)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Prominent glabella (HP:0002057)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Polydactyly (HP:0010442)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Congenital onset (HP:0003577)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Hirsutism (HP:0001007)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Drooling (HP:0002307)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Amblyopia (HP:0000646)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Frontal hirsutism (HP:0011335)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Synophrys (HP:0000664)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Happy demeanor (HP:0040082)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Epicanthus (HP:0000286)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Clinodactyly (HP:0030084)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Microcephaly (HP:0000252)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: High palate (HP:0000218)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Overfolded helix (HP:0000396)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Low-set ears (HP:0000369)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Long philtrum (HP:0000343)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Microretrognathia (HP:0000308)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Strabismus (HP:0000486)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Webbed neck (HP:0000465)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Protruding ear (HP:0000411)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TASP1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Gene: TRMT1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68 (OMIM:618302)
Gene: TRMT1
Phenotype: Motor delay (HP:0001270)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68 (OMIM:618302)
Gene: TRMT1
Phenotype: Seizure (HP:0001250)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68 (OMIM:618302)
Gene: TRMT1
Phenotype: Hypotonia (HP:0001252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68 (OMIM:618302)
Gene: TRMT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68 (OMIM:618302)
Gene: TRMT1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68 (OMIM:618302)
Gene: TRMT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68 (OMIM:618302)
Gene: TRMT1
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68 (OMIM:618302)
Gene: TRMT1
Phenotype: Synophrys (HP:0000664)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68 (OMIM:618302)
Gene: TRMT1
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68 (OMIM:618302)
Gene: TRMT1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68 (OMIM:618302)
Gene: TRMT1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68 (OMIM:618302)
Gene: TRMT1
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68 (OMIM:618302)
Gene: TRMT1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68 (OMIM:618302)
Gene: TRMT1
Phenotype: Microcephaly (HP:0000252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68 (OMIM:618302)
Gene: TRMT1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68 (OMIM:618302)
Gene: TRMT1
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68 (OMIM:618302)
Gene: TRMT1
Phenotype: Pes planus (HP:0001763)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68 (OMIM:618302)
Gene: TRMT1
Phenotype: Protruding ear (HP:0000411)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68 (OMIM:618302)
Gene: TRMT1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68 (OMIM:618302)
Gene: TRMT1
Phenotype: Broad eyebrow (HP:0011229)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68 (OMIM:618302)
Gene: THUMPD1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES (OMIM:619989)
Gene: THUMPD1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES (OMIM:619989)
Gene: THUMPD1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES (OMIM:619989)
Gene: THUMPD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES (OMIM:619989)
Gene: THUMPD1
Phenotype: Wide mouth (HP:0000154)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES (OMIM:619989)
Gene: THUMPD1
Phenotype: Short columella (HP:0002000)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES (OMIM:619989)
Gene: THUMPD1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES (OMIM:619989)
Gene: THUMPD1
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES (OMIM:619989)
Gene: THUMPD1
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES (OMIM:619989)
Gene: THUMPD1
Phenotype: Short stature (HP:0004322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES (OMIM:619989)
Gene: THUMPD1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES (OMIM:619989)
Gene: THUMPD1
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES (OMIM:619989)
Gene: THUMPD1
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES (OMIM:619989)
Gene: THUMPD1
Phenotype: Sparse hair (HP:0008070)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES (OMIM:619989)
Gene: THUMPD1
Phenotype: Epicanthus (HP:0000286)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES (OMIM:619989)
Gene: THUMPD1
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES (OMIM:619989)
Gene: THUMPD1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES (OMIM:619989)
Gene: THUMPD1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES (OMIM:619989)
Gene: THUMPD1
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES (OMIM:619989)
Gene: THUMPD1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES (OMIM:619989)
Gene: THUMPD1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES (OMIM:619989)
Gene: THUMPD1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES (OMIM:619989)
Gene: THUMPD1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES (OMIM:619989)
Gene: THUMPD1
Phenotype: Ptosis (HP:0000508)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES (OMIM:619989)
Gene: POMGNT1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: POMGNT1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 76 (OMIM:617123)
Gene: POMGNT1
Phenotype: Meningocele (HP:0002435)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMGNT1
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: POMGNT1
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 (OMIM:253280)
Gene: POMGNT1
Phenotype: Type II lissencephaly (HP:0007260)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMGNT1
Phenotype: Type II lissencephaly (HP:0007260)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 (OMIM:253280)
Gene: POMGNT1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMGNT1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 (OMIM:253280)
Gene: POMGNT1
Phenotype: Calf muscle pseudohypertrophy (HP:0003707)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMGNT1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMGNT1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3 (OMIM:613157)
Gene: POMGNT1
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMGNT1
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3 (OMIM:613157)
Gene: POMGNT1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 (OMIM:253280)
Gene: POMGNT1
Phenotype: Hypertonia (HP:0001276)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMGNT1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMGNT1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMGNT1
Phenotype: Motor delay (HP:0001270)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 3 (OMIM:613151)
Gene: POMGNT1
Phenotype: Motor delay (HP:0001270)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3 (OMIM:613157)
Gene: POMGNT1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMGNT1
Phenotype: Areflexia (HP:0001284)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMGNT1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMGNT1
Phenotype: Seizure (HP:0001250)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMGNT1
Phenotype: Seizure (HP:0001250)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 (OMIM:253280)
Gene: POMGNT1
Phenotype: Seizure (HP:0001250)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMGNT1
Phenotype: Seizure (HP:0001250)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMGNT1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMGNT1
Phenotype: Hypotonia (HP:0001252)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMGNT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMGNT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 3 (OMIM:613151)
Gene: POMGNT1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMGNT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMGNT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 (OMIM:253280)
Gene: POMGNT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMGNT1
Phenotype: Spasticity (HP:0001257)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 (OMIM:253280)
Gene: POMGNT1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMGNT1
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 (OMIM:253280)
Gene: POMGNT1
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMGNT1
Phenotype: Abnormal cortical gyration (HP:0002536)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)