TaoMedAI/RareMedData huggingface dataset:
Gene: TBC1D2B
Phenotype: EEG with generalized epileptiform discharges (HP:0011198)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH (OMIM:619323)
Gene: TBC1D2B
Phenotype: Inappropriate crying (HP:0030215)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH (OMIM:619323)
Gene: SPART
Phenotype: Abnormal thumb morphology (HP:0001172)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Abnormality of the hand (HP:0001155)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE (OMIM:275900)
Gene: SPART
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Spastic dysarthria (HP:0002464)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Panic attack (HP:0025269)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE (OMIM:275900)
Gene: SPART
Phenotype: Motor delay (HP:0001270)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Motor delay (HP:0001270)
Associated disease: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE (OMIM:275900)
Gene: SPART
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE (OMIM:275900)
Gene: SPART
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE (OMIM:275900)
Gene: SPART
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE (OMIM:275900)
Gene: SPART
Phenotype: Dysarthria (HP:0001260)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE (OMIM:275900)
Gene: SPART
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE (OMIM:275900)
Gene: SPART
Phenotype: Spasticity (HP:0001257)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE (OMIM:275900)
Gene: SPART
Phenotype: Flexion contracture (HP:0001371)
Associated disease: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE (OMIM:275900)
Gene: SPART
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Slurred speech (HP:0001350)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE (OMIM:275900)
Gene: SPART
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Urinary urgency (HP:0000012)
Associated disease: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE (OMIM:275900)
Gene: SPART
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE (OMIM:275900)
Gene: SPART
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE (OMIM:275900)
Gene: SPART
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE (OMIM:275900)
Gene: SPART
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE (OMIM:275900)
Gene: SPART
Phenotype: Constipation (HP:0002019)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE (OMIM:275900)
Gene: SPART
Phenotype: Dysphagia (HP:0002015)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE (OMIM:275900)
Gene: SPART
Phenotype: Spastic gait (HP:0002064)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE (OMIM:275900)
Gene: SPART
Phenotype: Dysuria (HP:0100518)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Abnormal hand morphology (HP:0005922)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Ulnar deviation of the hand (HP:0009487)
Associated disease: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE (OMIM:275900)
Gene: SPART
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE (OMIM:275900)
Gene: SPART
Phenotype: Babinski sign (HP:0003487)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE (OMIM:275900)
Gene: SPART
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE (OMIM:275900)
Gene: SPART
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Drooling (HP:0002307)
Associated disease: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE (OMIM:275900)
Gene: SPART
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE (OMIM:275900)
Gene: SPART
Phenotype: Short stature (HP:0004322)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Short stature (HP:0004322)
Associated disease: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE (OMIM:275900)
Gene: SPART
Phenotype: Upper limb spasticity (HP:0006986)
Associated disease: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE (OMIM:275900)
Gene: SPART
Phenotype: Hyperextensible hand joints (HP:0005639)
Associated disease: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE (OMIM:275900)
Gene: SPART
Phenotype: Impaired vibration sensation at ankles (HP:0006938)
Associated disease: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE (OMIM:275900)
Gene: SPART
Phenotype: Hallucinations (HP:0000738)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Anxiety (HP:0000739)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Emotional lability (HP:0000712)
Associated disease: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE (OMIM:275900)
Gene: SPART
Phenotype: Emotional lability (HP:0000712)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Psychosis (HP:0000709)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE (OMIM:275900)
Gene: SPART
Phenotype: Knee clonus (HP:0011449)
Associated disease: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE (OMIM:275900)
Gene: SPART
Phenotype: Ankle clonus (HP:0011448)
Associated disease: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE (OMIM:275900)
Gene: SPART
Phenotype: Ankle clonus (HP:0011448)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Epicanthus (HP:0000286)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Clinodactyly (HP:0030084)
Associated disease: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE (OMIM:275900)
Gene: SPART
Phenotype: Clinodactyly (HP:0030084)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Microcephaly (HP:0000252)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Genu valgum (HP:0002857)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Growth delay (HP:0001510)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Increased overbite (HP:0011094)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Speech apraxia (HP:0011098)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Camptodactyly (HP:0012385)
Associated disease: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE (OMIM:275900)
Gene: SPART
Phenotype: Hyperplasia of midface (HP:0012371)
Associated disease: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE (OMIM:275900)
Gene: SPART
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Low-set ears (HP:0000369)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE (OMIM:275900)
Gene: SPART
Phenotype: Abnormal nostril morphology (HP:0005288)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Chronic constipation (HP:0012450)
Associated disease: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE (OMIM:275900)
Gene: SPART
Phenotype: Abnormal brain morphology (HP:0012443)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Short foot (HP:0001773)
Associated disease: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE (OMIM:275900)
Gene: SPART
Phenotype: Hammertoe (HP:0001765)
Associated disease: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE (OMIM:275900)
Gene: SPART
Phenotype: Prominent nose (HP:0000448)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: SPART
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE (OMIM:275900)
Gene: SPART
Phenotype: Pes cavus (HP:0001761)
Associated disease: Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Autosomal recessive spastic paraplegia type 20; Troyer syndrome (ORPHA:101000)
Gene: TNRC6B
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES (OMIM:619243)
Gene: TNRC6B
Phenotype: Seizure (HP:0001250)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES (OMIM:619243)
Gene: TNRC6B
Phenotype: Hypotonia (HP:0001252)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES (OMIM:619243)
Gene: TNRC6B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES (OMIM:619243)
Gene: TNRC6B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES (OMIM:619243)
Gene: TNRC6B
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES (OMIM:619243)
Gene: TNRC6B
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES (OMIM:619243)
Gene: TNRC6B
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES (OMIM:619243)
Gene: TNRC6B
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES (OMIM:619243)
Gene: TNRC6B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES (OMIM:619243)
Gene: TNRC6B
Phenotype: Anal atresia (HP:0002023)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES (OMIM:619243)
Gene: TNRC6B
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES (OMIM:619243)
Gene: TNRC6B
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES (OMIM:619243)
Gene: TNRC6B
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES (OMIM:619243)
Gene: TNRC6B
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES (OMIM:619243)
Gene: TNRC6B
Phenotype: Autistic behavior (HP:0000729)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES (OMIM:619243)
Gene: TNRC6B
Phenotype: Precocious puberty (HP:0000826)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES (OMIM:619243)
Gene: TNRC6B
Phenotype: Macrocephaly (HP:0000256)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES (OMIM:619243)
Gene: TNRC6B
Phenotype: Microcephaly (HP:0000252)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES (OMIM:619243)
Gene: TNRC6B
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES (OMIM:619243)
Gene: TNRC6B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES (OMIM:619243)
Gene: TNRC6B
Phenotype: Micrognathia (HP:0000347)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES (OMIM:619243)
Gene: TNRC6B
Phenotype: Triangular face (HP:0000325)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES (OMIM:619243)
Gene: TNRC6B
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES (OMIM:619243)
Gene: TNRC6B
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES (OMIM:619243)
Gene: NFASC
Phenotype: Hyperextensibility of the finger joints (HP:0001187)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION (OMIM:618356)
Gene: NFASC
Phenotype: Hypertonia (HP:0001276)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION (OMIM:618356)
Gene: NFASC
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION (OMIM:618356)
Gene: NFASC
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION (OMIM:618356)
Gene: NFASC
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION (OMIM:618356)
Gene: NFASC
Phenotype: Ataxia (HP:0001251)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION (OMIM:618356)
Gene: NFASC
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION (OMIM:618356)
Gene: NFASC
Phenotype: Dysarthria (HP:0001260)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION (OMIM:618356)
Gene: NFASC
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION (OMIM:618356)
Gene: NFASC
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION (OMIM:618356)
Gene: NFASC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION (OMIM:618356)
Gene: NFASC
Phenotype: Myoclonus (HP:0001336)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION (OMIM:618356)
Gene: NFASC
Phenotype: Dysmetria (HP:0001310)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION (OMIM:618356)
Gene: NFASC
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION (OMIM:618356)
Gene: NFASC
Phenotype: Glossoptosis (HP:0000162)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION (OMIM:618356)
Gene: NFASC
Phenotype: Cleft palate (HP:0000175)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION (OMIM:618356)
Gene: NFASC
Phenotype: Intention tremor (HP:0002080)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION (OMIM:618356)