TaoMedAI/RareMedData huggingface dataset:
Gene: FIG4
Phenotype: Steppage gait (HP:0003376)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FIG4
Phenotype: Onion bulb formation (HP:0003383)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J (OMIM:611228)
Gene: FIG4
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Anterior concavity of thoracic vertebrae (HP:0004611)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 11 (OMIM:612577)
Gene: FIG4
Phenotype: Paralysis (HP:0003470)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Arrhinencephaly (HP:0002139)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Arrhinencephaly (HP:0002139)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Babinski sign (HP:0003487)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL (OMIM:612691)
Gene: FIG4
Phenotype: Axonal loss (HP:0003447)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J (OMIM:611228)
Gene: FIG4
Phenotype: Status epilepticus (HP:0002133)
Associated disease: POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL (OMIM:612691)
Gene: FIG4
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL (OMIM:612691)
Gene: FIG4
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J (OMIM:611228)
Gene: FIG4
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Bilateral parasagittal parieto-occipital polymicrogyria (ORPHA:208441)
Gene: FIG4
Phenotype: Absent middle phalanx of 2nd finger (HP:0009576)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Aplasia of the distal phalanx of the 2nd finger (HP:0009565)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Wide cranial sutures (HP:0010537)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Wide cranial sutures (HP:0010537)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Sudden unexpected death in epilepsy (HP:0033258)
Associated disease: POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL (OMIM:612691)
Gene: FIG4
Phenotype: Short 2nd finger (HP:0009536)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Infantile onset (HP:0003593)
Associated disease: POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL (OMIM:612691)
Gene: FIG4
Phenotype: Congenital onset (HP:0003577)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Congenital onset (HP:0003577)
Associated disease: POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL (OMIM:612691)
Gene: FIG4
Phenotype: Adult onset (HP:0003581)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 11 (OMIM:612577)
Gene: FIG4
Phenotype: Birth length less than 3rd percentile (HP:0003561)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Aplasia/Hypoplasia of the hallux (HP:0008362)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Pseudobulbar paralysis (HP:0007024)
Associated disease: Bilateral parasagittal parieto-occipital polymicrogyria (ORPHA:208441)
Gene: FIG4
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Aplasia/Hypoplasia of the nails (HP:0008386)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Aplasia/Hypoplasia of the nails (HP:0008386)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL (OMIM:612691)
Gene: FIG4
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: Bilateral parasagittal parieto-occipital polymicrogyria (ORPHA:208441)
Gene: FIG4
Phenotype: Fasciculations (HP:0002380)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Visual hallucination (HP:0002367)
Associated disease: Bilateral parasagittal parieto-occipital polymicrogyria (ORPHA:208441)
Gene: FIG4
Phenotype: Visual hallucination (HP:0002367)
Associated disease: POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL (OMIM:612691)
Gene: FIG4
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Frequent falls (HP:0002359)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J (OMIM:611228)
Gene: FIG4
Phenotype: Progressive (HP:0003676)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J (OMIM:611228)
Gene: FIG4
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FIG4
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Slender long bones with narrow diaphyses (HP:0004993)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Down-sloping shoulders (HP:0200021)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Aplasia/Hypoplasia of the middle phalanges of the hand (HP:0009843)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Aplasia/Hypoplasia of the distal phalanges of the hand (HP:0009835)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Absent thumb (HP:0009777)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Absent thumb (HP:0009777)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Short thumb (HP:0009778)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Short metatarsal (HP:0010743)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FIG4
Phenotype: Drooling (HP:0002307)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FIG4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL (OMIM:612691)
Gene: FIG4
Phenotype: Peripheral hypomyelination (HP:0007182)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J (OMIM:611228)
Gene: FIG4
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FIG4
Phenotype: Aplasia/hypoplasia of the 1st metatarsal (HP:0010067)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FIG4
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FIG4
Phenotype: Sclerocornea (HP:0000647)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Sclerocornea (HP:0000647)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Renal artery stenosis (HP:0001920)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FIG4
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Aplasia of the 1st metacarpal (HP:0010035)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FIG4
Phenotype: Tapered toe (HP:0011309)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Bilateral parasagittal parieto-occipital polymicrogyria (ORPHA:208441)
Gene: FIG4
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Short stature (HP:0004322)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Decreased skull ossification (HP:0004331)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Decreased skull ossification (HP:0004331)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Cachexia (HP:0004326)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Hoffmann sign (HP:0031993)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FIG4
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FIG4
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Distal arthrogryposis (HP:0005684)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J (OMIM:611228)
Gene: FIG4
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 11 (OMIM:612577)
Gene: FIG4
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J (OMIM:611228)
Gene: FIG4
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Irritability (HP:0000737)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Anxiety (HP:0000739)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Bilateral parasagittal parieto-occipital polymicrogyria (ORPHA:208441)
Gene: FIG4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Depression (HP:0000716)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL (OMIM:612691)
Gene: FIG4
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Bilateral parasagittal parieto-occipital polymicrogyria (ORPHA:208441)
Gene: FIG4
Phenotype: Emotional lability (HP:0000712)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Bilateral parasagittal parieto-occipital polymicrogyria (ORPHA:208441)
Gene: FIG4
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Aplasia of the distal phalanx of the hallux (HP:0010102)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Orthopnea (HP:0012764)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Short proximal phalanx of hallux (HP:0010107)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Short ribs (HP:0000773)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Shortening of all distal phalanges of the toes (HP:0005793)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FIG4
Phenotype: Hypoplastic scapulae (HP:0000882)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Narrow nasal base (HP:0012809)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Hypertension (HP:0000822)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FIG4
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Short clavicles (HP:0000894)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Abnormality on pulmonary function testing (HP:0030878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FIG4
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 11 (OMIM:612577)
Gene: FIG4
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Gingival recession (HP:0030816)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: Bilateral parasagittal parieto-occipital polymicrogyria (ORPHA:208441)
Gene: FIG4
Phenotype: Short middle phalanx of finger (HP:0005819)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Abnormal pelvis bone morphology (HP:0040163)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Short finger (HP:0009381)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Short finger (HP:0009381)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Abnormal occipital bone morphology (HP:0012294)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Epicanthus (HP:0000286)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Bilateral parasagittal parieto-occipital polymicrogyria (ORPHA:208441)
Gene: FIG4
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J (OMIM:611228)
Gene: FIG4
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Hip dislocation (HP:0002827)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Clinodactyly (HP:0030084)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Kyphosis (HP:0002808)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Parietal bossing (HP:0000242)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Large fontanelles (HP:0000239)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Microcephaly (HP:0000252)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Microcephaly (HP:0000252)
Associated disease: Bilateral parasagittal parieto-occipital polymicrogyria (ORPHA:208441)
Gene: FIG4
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Xerostomia (HP:0000217)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Broad secondary alveolar ridge (HP:0000216)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: High palate (HP:0000218)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Severe failure to thrive (HP:0001525)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)