TaoMedAI/RareMedData huggingface dataset:
Gene: ALS2
Phenotype: Decreased compound muscle action potential amplitude (HP:0033383)
Associated disease: PRIMARY LATERAL SCLEROSIS, JUVENILE (OMIM:606353)
Gene: ALS2
Phenotype: Abnormal lower motor neuron morphology (HP:0002366)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Abnormal lower motor neuron morphology (HP:0002366)
Associated disease: SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING (OMIM:607225)
Gene: ALS2
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Loss of speech (HP:0002371)
Associated disease: JPLS; Juvenile PLS; Juvenile primary lateral sclerosis (ORPHA:247604)
Gene: ALS2
Phenotype: Progressive (HP:0003676)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Progressive (HP:0003676)
Associated disease: SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING (OMIM:607225)
Gene: ALS2
Phenotype: Slowly progressive (HP:0003677)
Associated disease: PRIMARY LATERAL SCLEROSIS, JUVENILE (OMIM:606353)
Gene: ALS2
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING (OMIM:607225)
Gene: ALS2
Phenotype: Drooling (HP:0002307)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Nystagmus (HP:0000639)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Nystagmus (HP:0000639)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Supranuclear gaze palsy (HP:0000605)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Short stature (HP:0004322)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Upper limb spasticity (HP:0006986)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Upper limb spasticity (HP:0006986)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Cachexia (HP:0004326)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Arm dystonia (HP:0031960)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Arm dystonia (HP:0031960)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: JPLS; Juvenile PLS; Juvenile primary lateral sclerosis (ORPHA:247604)
Gene: ALS2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Childhood onset (HP:0011463)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING (OMIM:607225)
Gene: ALS2
Phenotype: Childhood onset (HP:0011463)
Associated disease: PRIMARY LATERAL SCLEROSIS, JUVENILE (OMIM:606353)
Gene: ALS2
Phenotype: Hand muscle atrophy (HP:0009130)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Limb joint contracture (HP:0003121)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Lower-limb joint contracture (HP:0005750)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Upper-limb joint contracture (HP:0100360)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: JPLS; Juvenile PLS; Juvenile primary lateral sclerosis (ORPHA:247604)
Gene: ALS2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Pallor (HP:0000980)
Associated disease: PRIMARY LATERAL SCLEROSIS, JUVENILE (OMIM:606353)
Gene: ALS2
Phenotype: Appendicular spasticity (HP:0034353)
Associated disease: PRIMARY LATERAL SCLEROSIS, JUVENILE (OMIM:606353)
Gene: ALS2
Phenotype: Delayed somatosensory central conduction time (HP:0100291)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Muscle fiber atrophy (HP:0100295)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING (OMIM:607225)
Gene: ALS2
Phenotype: Microcephaly (HP:0000252)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Microcephaly (HP:0000252)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Impaired mastication (HP:0005216)
Associated disease: IAHSP; Infantile-onset ascending hereditary spastic paralysis (ORPHA:293168)
Gene: ALS2
Phenotype: Impaired mastication (HP:0005216)
Associated disease: SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING (OMIM:607225)
Gene: ALS2
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING (OMIM:607225)
Gene: ALS2
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: IAHSP; Infantile-onset ascending hereditary spastic paralysis (ORPHA:293168)
Gene: ALS2
Phenotype: Tongue spasticity (HP:0025747)
Associated disease: PRIMARY LATERAL SCLEROSIS, JUVENILE (OMIM:606353)
Gene: ALS2
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING (OMIM:607225)
Gene: ALS2
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING (OMIM:607225)
Gene: ALS2
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING (OMIM:607225)
Gene: CHD8
Phenotype: Limb dystonia (HP:0002451)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Generalized dystonia (HP:0007325)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: CHD8
Phenotype: Motor delay (HP:0001270)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Seizure (HP:0001250)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: CHD8
Phenotype: Seizure (HP:0001250)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Hypotonia (HP:0001252)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: CHD8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Polyphagia (HP:0002591)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: CHD8
Phenotype: Global developmental delay (HP:0001263)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: CHD8
Phenotype: Tall stature (HP:0000098)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Typically de novo (HP:0025352)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Macroorchidism (HP:0000053)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Slurred speech (HP:0001350)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: CHD8
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: CHD8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Stereotypical hand wringing (HP:0012171)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Open mouth (HP:0000194)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Constipation (HP:0002019)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Diarrhea (HP:0002014)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Echolalia (HP:0010529)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Pica (HP:0011856)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: CHD8
Phenotype: Infantile onset (HP:0003593)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Heterotropia (HP:0032012)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: CHD8
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Striae distensae (HP:0001065)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: CHD8
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Developmental regression (HP:0002376)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Writer's cramp (HP:0002356)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Clumsiness (HP:0002312)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Late chronotype (HP:0031874)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Reduced production of gestures (HP:4000081)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Intellectual disability, borderline (HP:0006889)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Pronoun reversal (HP:4000073)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: CHD8
Phenotype: Tall chin (HP:0400000)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Caesarean section (HP:0011410)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Recurrent hand flapping (HP:0100023)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Tics (HP:0100033)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Anxiety (HP:0000739)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Short attention span (HP:0000736)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: CHD8
Phenotype: Depression (HP:0000716)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: CHD8
Phenotype: Autism (HP:0000717)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: CHD8
Phenotype: Autism (HP:0000717)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Psychosis (HP:0000709)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Childhood onset (HP:0011463)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Young adult onset (HP:0011462)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Fetal onset (HP:0011461)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: CHD8
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: CHD8
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Stereotypic upper-extremity movements (HP:5200018)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Abdominal distention (HP:0003270)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: CHD8
Phenotype: Epicanthus (HP:0000286)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: CHD8
Phenotype: Retrognathia (HP:0000278)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Macrocephaly (HP:0000256)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Kyphosis (HP:0002808)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Microcephaly (HP:0000252)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: CHD8
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Overweight (HP:0025502)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Sleep onset insomnia (HP:0031354)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Obesity (HP:0001513)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: CHD8
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Long philtrum (HP:0000343)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Broad forehead (HP:0000337)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Micrognathia (HP:0000347)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: CHD8
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Hypertelorism (HP:0000316)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: CHD8
Phenotype: Pointed chin (HP:0000307)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Macrotia (HP:0000400)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: CHD8
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Pes planus (HP:0001763)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Wide nose (HP:0000445)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: CHD8
Phenotype: Ptosis (HP:0000508)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: CHD8
Phenotype: Esotropia (HP:0000565)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Gene: ZSWIM6
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Syndactyly (HP:0001159)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Meningocele (HP:0002435)
Associated disease: Acromelic frontonasal dysplasia; Acromelic frontonasal dysostosis; Toriello syndrome; AFND (ORPHA:1827)
Gene: ZSWIM6
Phenotype: Thick nasal alae (HP:0009928)
Associated disease: Acromelic frontonasal dysplasia; Acromelic frontonasal dysostosis; Toriello syndrome; AFND (ORPHA:1827)
Gene: ZSWIM6
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZSWIM6
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZSWIM6
Phenotype: Hypertonia (HP:0001276)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Dermoid cyst (HP:0025247)
Associated disease: Acromelic frontonasal dysplasia; Acromelic frontonasal dysostosis; Toriello syndrome; AFND (ORPHA:1827)
Gene: ZSWIM6
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Acromelic frontonasal dysplasia; Acromelic frontonasal dysostosis; Toriello syndrome; AFND (ORPHA:1827)
Gene: ZSWIM6
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Seizure (HP:0001250)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Seizure (HP:0001250)
Associated disease: Acromelic frontonasal dysplasia; Acromelic frontonasal dysostosis; Toriello syndrome; AFND (ORPHA:1827)
Gene: ZSWIM6
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Ataxia (HP:0001251)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Acromelic frontonasal dysplasia; Acromelic frontonasal dysostosis; Toriello syndrome; AFND (ORPHA:1827)
Gene: ZSWIM6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)