TaoMedAI/RareMedData huggingface dataset:
Gene: TECPR2
Phenotype: Hypotonia (HP:0001252)
Associated disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE (OMIM:615031)
Gene: TECPR2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Hereditary sensory and autonomic neuropathy due to TECPR2 mutation; SPG49; HSAN due to TECPR2 mutation; Autosomal recessive spastic paraplegia type 49 (ORPHA:320385)
Gene: TECPR2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE (OMIM:615031)
Gene: TECPR2
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE (OMIM:615031)
Gene: TECPR2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Hereditary sensory and autonomic neuropathy due to TECPR2 mutation; SPG49; HSAN due to TECPR2 mutation; Autosomal recessive spastic paraplegia type 49 (ORPHA:320385)
Gene: TECPR2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Hereditary sensory and autonomic neuropathy due to TECPR2 mutation; SPG49; HSAN due to TECPR2 mutation; Autosomal recessive spastic paraplegia type 49 (ORPHA:320385)
Gene: TECPR2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE (OMIM:615031)
Gene: TECPR2
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE (OMIM:615031)
Gene: TECPR2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE (OMIM:615031)
Gene: TECPR2
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE (OMIM:615031)
Gene: TECPR2
Phenotype: Dysmetria (HP:0001310)
Associated disease: Hereditary sensory and autonomic neuropathy due to TECPR2 mutation; SPG49; HSAN due to TECPR2 mutation; Autosomal recessive spastic paraplegia type 49 (ORPHA:320385)
Gene: TECPR2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE (OMIM:615031)
Gene: TECPR2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE (OMIM:615031)
Gene: TECPR2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE (OMIM:615031)
Gene: TECPR2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Hereditary sensory and autonomic neuropathy due to TECPR2 mutation; SPG49; HSAN due to TECPR2 mutation; Autosomal recessive spastic paraplegia type 49 (ORPHA:320385)
Gene: TECPR2
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE (OMIM:615031)
Gene: TECPR2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE (OMIM:615031)
Gene: TECPR2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Hereditary sensory and autonomic neuropathy due to TECPR2 mutation; SPG49; HSAN due to TECPR2 mutation; Autosomal recessive spastic paraplegia type 49 (ORPHA:320385)
Gene: TECPR2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE (OMIM:615031)
Gene: TECPR2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Hereditary sensory and autonomic neuropathy due to TECPR2 mutation; SPG49; HSAN due to TECPR2 mutation; Autosomal recessive spastic paraplegia type 49 (ORPHA:320385)
Gene: TECPR2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Hereditary sensory and autonomic neuropathy due to TECPR2 mutation; SPG49; HSAN due to TECPR2 mutation; Autosomal recessive spastic paraplegia type 49 (ORPHA:320385)
Gene: TECPR2
Phenotype: Dental crowding (HP:0000678)
Associated disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE (OMIM:615031)
Gene: TECPR2
Phenotype: Dental crowding (HP:0000678)
Associated disease: Hereditary sensory and autonomic neuropathy due to TECPR2 mutation; SPG49; HSAN due to TECPR2 mutation; Autosomal recessive spastic paraplegia type 49 (ORPHA:320385)
Gene: TECPR2
Phenotype: Short stature (HP:0004322)
Associated disease: Hereditary sensory and autonomic neuropathy due to TECPR2 mutation; SPG49; HSAN due to TECPR2 mutation; Autosomal recessive spastic paraplegia type 49 (ORPHA:320385)
Gene: TECPR2
Phenotype: Short stature (HP:0004322)
Associated disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE (OMIM:615031)
Gene: TECPR2
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE (OMIM:615031)
Gene: TECPR2
Phenotype: Full cheeks (HP:0000293)
Associated disease: Hereditary sensory and autonomic neuropathy due to TECPR2 mutation; SPG49; HSAN due to TECPR2 mutation; Autosomal recessive spastic paraplegia type 49 (ORPHA:320385)
Gene: TECPR2
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE (OMIM:615031)
Gene: TECPR2
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: Hereditary sensory and autonomic neuropathy due to TECPR2 mutation; SPG49; HSAN due to TECPR2 mutation; Autosomal recessive spastic paraplegia type 49 (ORPHA:320385)
Gene: TECPR2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Hereditary sensory and autonomic neuropathy due to TECPR2 mutation; SPG49; HSAN due to TECPR2 mutation; Autosomal recessive spastic paraplegia type 49 (ORPHA:320385)
Gene: TECPR2
Phenotype: Microcephaly (HP:0000252)
Associated disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE (OMIM:615031)
Gene: TECPR2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE (OMIM:615031)
Gene: TECPR2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Hereditary sensory and autonomic neuropathy due to TECPR2 mutation; SPG49; HSAN due to TECPR2 mutation; Autosomal recessive spastic paraplegia type 49 (ORPHA:320385)
Gene: TECPR2
Phenotype: Central apnea (HP:0002871)
Associated disease: Hereditary sensory and autonomic neuropathy due to TECPR2 mutation; SPG49; HSAN due to TECPR2 mutation; Autosomal recessive spastic paraplegia type 49 (ORPHA:320385)
Gene: TECPR2
Phenotype: Central apnea (HP:0002871)
Associated disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE (OMIM:615031)
Gene: TECPR2
Phenotype: Hypomimic face (HP:0000338)
Associated disease: Hereditary sensory and autonomic neuropathy due to TECPR2 mutation; SPG49; HSAN due to TECPR2 mutation; Autosomal recessive spastic paraplegia type 49 (ORPHA:320385)
Gene: TECPR2
Phenotype: Hypomimic face (HP:0000338)
Associated disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE (OMIM:615031)
Gene: TECPR2
Phenotype: Round face (HP:0000311)
Associated disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE (OMIM:615031)
Gene: TECPR2
Phenotype: Round face (HP:0000311)
Associated disease: Hereditary sensory and autonomic neuropathy due to TECPR2 mutation; SPG49; HSAN due to TECPR2 mutation; Autosomal recessive spastic paraplegia type 49 (ORPHA:320385)
Gene: TECPR2
Phenotype: Broad neck (HP:0000475)
Associated disease: Hereditary sensory and autonomic neuropathy due to TECPR2 mutation; SPG49; HSAN due to TECPR2 mutation; Autosomal recessive spastic paraplegia type 49 (ORPHA:320385)
Gene: TECPR2
Phenotype: Broad neck (HP:0000475)
Associated disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE (OMIM:615031)
Gene: TECPR2
Phenotype: Short neck (HP:0000470)
Associated disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE (OMIM:615031)
Gene: TECPR2
Phenotype: Short neck (HP:0000470)
Associated disease: Hereditary sensory and autonomic neuropathy due to TECPR2 mutation; SPG49; HSAN due to TECPR2 mutation; Autosomal recessive spastic paraplegia type 49 (ORPHA:320385)
Gene: FIG4
Phenotype: Tapered finger (HP:0001182)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Tapered finger (HP:0001182)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Bulbar signs (HP:0002483)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 11 (OMIM:612577)
Gene: FIG4
Phenotype: Abnormal finger morphology (HP:0001167)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Upper motor neuron dysfunction (HP:0002493)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 11 (OMIM:612577)
Gene: FIG4
Phenotype: Syndactyly (HP:0001159)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Language impairment (HP:0002463)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J (OMIM:611228)
Gene: FIG4
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: Bilateral parasagittal parieto-occipital polymicrogyria (ORPHA:208441)
Gene: FIG4
Phenotype: Aplasia of the distal phalanges of the hand (HP:0009881)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Microtia (HP:0008551)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FIG4
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FIG4
Phenotype: Renovascular hypertension (HP:0100817)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Motor delay (HP:0001270)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J (OMIM:611228)
Gene: FIG4
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J (OMIM:611228)
Gene: FIG4
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J (OMIM:611228)
Gene: FIG4
Phenotype: Seizure (HP:0001250)
Associated disease: Bilateral parasagittal parieto-occipital polymicrogyria (ORPHA:208441)
Gene: FIG4
Phenotype: Hypotonia (HP:0001252)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Hypotonia (HP:0001252)
Associated disease: Bilateral parasagittal parieto-occipital polymicrogyria (ORPHA:208441)
Gene: FIG4
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Bilateral parasagittal parieto-occipital polymicrogyria (ORPHA:208441)
Gene: FIG4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J (OMIM:611228)
Gene: FIG4
Phenotype: Dysarthria (HP:0001260)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Bilateral parasagittal parieto-occipital polymicrogyria (ORPHA:208441)
Gene: FIG4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Spasticity (HP:0001257)
Associated disease: Bilateral parasagittal parieto-occipital polymicrogyria (ORPHA:208441)
Gene: FIG4
Phenotype: Spasticity (HP:0001257)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Absent nipple (HP:0002561)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Auditory hallucination (HP:0008765)
Associated disease: Bilateral parasagittal parieto-occipital polymicrogyria (ORPHA:208441)
Gene: FIG4
Phenotype: Abnormal fear-induced behavior (HP:0100852)
Associated disease: Bilateral parasagittal parieto-occipital polymicrogyria (ORPHA:208441)
Gene: FIG4
Phenotype: Motor neuron atrophy (HP:0007373)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 11 (OMIM:612577)
Gene: FIG4
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Hypoplasia of the frontal lobes (HP:0007333)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Hypoplasia of the frontal lobes (HP:0007333)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL (OMIM:612691)
Gene: FIG4
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Cortical dysplasia (HP:0002539)
Associated disease: Bilateral parasagittal parieto-occipital polymicrogyria (ORPHA:208441)
Gene: FIG4
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FIG4
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Variable expressivity (HP:0003828)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J (OMIM:611228)
Gene: FIG4
Phenotype: Jaw hyperreflexia (HP:0033683)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Hypoplastic labia majora (HP:0000059)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Micropenis (HP:0000054)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Micropenis (HP:0000054)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Hypospadias (HP:0000047)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Hypospadias (HP:0000047)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Abnormal calvaria morphology (HP:0002683)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Psychotic mentation (HP:0001345)
Associated disease: Bilateral parasagittal parieto-occipital polymicrogyria (ORPHA:208441)
Gene: FIG4
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Abnormal parietal bone morphology (HP:0002696)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FIG4
Phenotype: Hypoplastic facial bones (HP:0002692)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Delayed ossification of pubic rami (HP:0008785)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FIG4
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL (OMIM:612691)
Gene: FIG4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J (OMIM:611228)
Gene: FIG4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 11 (OMIM:612577)
Gene: FIG4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FIG4
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Pachygyria (HP:0001302)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Pachygyria (HP:0001302)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FIG4
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FIG4
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Broad alveolar ridges (HP:0000187)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Short upper lip (HP:0000188)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Short upper lip (HP:0000188)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Glossoptosis (HP:0000162)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Abnormal palate morphology (HP:0000174)
Associated disease: Bilateral parasagittal parieto-occipital polymicrogyria (ORPHA:208441)
Gene: FIG4
Phenotype: High-pitched cry (HP:0025430)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Laryngospasm (HP:0025425)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Premature loss of primary teeth (HP:0006323)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Premature loss of primary teeth (HP:0006323)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Bilateral microphthalmos (HP:0007633)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Progressive distal muscular atrophy (HP:0008955)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Generalized neonatal hypotonia (HP:0008935)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Delirium (HP:0031258)
Associated disease: Bilateral parasagittal parieto-occipital polymicrogyria (ORPHA:208441)
Gene: FIG4
Phenotype: Delirium (HP:0031258)
Associated disease: POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL (OMIM:612691)
Gene: FIG4
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Redundant neck skin (HP:0005989)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Redundant neck skin (HP:0005989)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Dysphagia (HP:0002015)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Dyspnea (HP:0002094)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Bilateral parasagittal parieto-occipital polymicrogyria (ORPHA:208441)
Gene: FIG4
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)