TaoMedAI/RareMedData huggingface dataset:
Gene: B9D1
Phenotype: Low-set ears (HP:0000369)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: B9D1
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
Phenotype: Triangular face (HP:0000325)
Associated disease: JOUBERT SYNDROME 27 (OMIM:617120)
Gene: B9D1
Phenotype: Pancreatic cysts (HP:0001737)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
Phenotype: Strabismus (HP:0000486)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: B9D1
Phenotype: Microcornea (HP:0000482)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
Phenotype: Retinopathy (HP:0000488)
Associated disease: JOUBERT SYNDROME 27 (OMIM:617120)
Gene: B9D1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: B9D1
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
Phenotype: Asplenia (HP:0001746)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
Phenotype: Accessory spleen (HP:0001747)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: MECKEL SYNDROME, TYPE 9 (OMIM:614209)
Gene: B9D1
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: B9D1
Phenotype: Cystic liver disease (HP:0006706)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
Phenotype: Cataract (HP:0000518)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
Phenotype: Anophthalmia (HP:0000528)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: B9D1
Phenotype: Ptosis (HP:0000508)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: B9D1
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
Phenotype: Abnormal chorioretinal morphology (HP:0000532)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D1
Phenotype: Talipes (HP:0001883)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: FOXP1
Phenotype: Language impairment (HP:0002463)
Associated disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)
Gene: FOXP1
Phenotype: Expressive language delay (HP:0002474)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Hypoplastic helices (HP:0008589)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)
Gene: FOXP1
Phenotype: Motor delay (HP:0001270)
Associated disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)
Gene: FOXP1
Phenotype: Motor delay (HP:0001270)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Seizure (HP:0001250)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)
Gene: FOXP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)
Gene: FOXP1
Phenotype: Spasticity (HP:0001257)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Repetitive compulsive behavior (HP:0008762)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)
Gene: FOXP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)
Gene: FOXP1
Phenotype: B-cell lymphoma (HP:0012191)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: FOXP1
Phenotype: Open mouth (HP:0000194)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Open mouth (HP:0000194)
Associated disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)
Gene: FOXP1
Phenotype: Posterior uveitis (HP:0012123)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: FOXP1
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: FOXP1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Constipation (HP:0002019)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: FOXP1
Phenotype: Constipation (HP:0002019)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: FOXP1
Phenotype: Decreased circulating iron concentration (HP:0040303)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: FOXP1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: FOXP1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)
Gene: FOXP1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)
Gene: FOXP1
Phenotype: Chin with horizontal crease (HP:0011823)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)
Gene: FOXP1
Phenotype: Frontal upsweep of hair (HP:0002236)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)
Gene: FOXP1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: FOXP1
Phenotype: Mediastinal lymphadenopathy (HP:0100721)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: FOXP1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)
Gene: FOXP1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Drooling (HP:0002307)
Associated disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)
Gene: FOXP1
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)
Gene: FOXP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Abnormal nasolacrimal system morphology (HP:0000614)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: FOXP1
Phenotype: Fever (HP:0001945)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: FOXP1
Phenotype: Anemia (HP:0001903)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: FOXP1
Phenotype: Enuresis (HP:0000805)
Associated disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)
Gene: FOXP1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)
Gene: FOXP1
Phenotype: Anxiety (HP:0000739)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Anxiety (HP:0000739)
Associated disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)
Gene: FOXP1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)
Gene: FOXP1
Phenotype: Short attention span (HP:0000736)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Inflexible adherence to routines (HP:0000732)
Associated disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)
Gene: FOXP1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)
Gene: FOXP1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)
Gene: FOXP1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)
Gene: FOXP1
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)
Gene: FOXP1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Short nose (HP:0003196)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Short nose (HP:0003196)
Associated disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)
Gene: FOXP1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Abnormality of the thyroid gland (HP:0000820)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: FOXP1
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: FOXP1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Retrognathia (HP:0000278)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Retrognathia (HP:0000278)
Associated disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)
Gene: FOXP1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)
Gene: FOXP1
Phenotype: Malar flattening (HP:0000272)
Associated disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)
Gene: FOXP1
Phenotype: Clinodactyly (HP:0030084)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Overweight (HP:0025502)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)
Gene: FOXP1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Obesity (HP:0001513)
Associated disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)
Gene: FOXP1
Phenotype: Speech apraxia (HP:0011098)
Associated disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)
Gene: FOXP1
Phenotype: Allergy (HP:0012393)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Fatigue (HP:0012378)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: FOXP1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)
Gene: FOXP1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Prominent nasolabial fold (HP:0005272)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Strabismus (HP:0000486)
Associated disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)
Gene: FOXP1
Phenotype: Strabismus (HP:0000486)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)
Gene: FOXP1
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome; FOXP1 Syndrome (ORPHA:391372)
Gene: FOXP1
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)