TaoMedAI/RareMedData huggingface dataset:
Gene: PLCH1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Cleft palate (HP:0000175)
Associated disease: HOLOPROSENCEPHALY 14 (OMIM:619895)
Gene: PLCH1
Phenotype: Cleft lip (HP:0410030)
Associated disease: HOLOPROSENCEPHALY 14 (OMIM:619895)
Gene: PLCH1
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Floppy infant (HP:0008947)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Constipation (HP:0002019)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Poor suck (HP:0002033)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Vomiting (HP:0002013)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Abnormal morphology of the olfactory bulb (HP:0040327)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: HOLOPROSENCEPHALY 14 (OMIM:619895)
Gene: PLCH1
Phenotype: Temperature instability (HP:0005968)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: HOLOPROSENCEPHALY 14 (OMIM:619895)
Gene: PLCH1
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: HOLOPROSENCEPHALY 14 (OMIM:619895)
Gene: PLCH1
Phenotype: Abnormality of the autonomic nervous system (HP:0002270)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: HOLOPROSENCEPHALY 14 (OMIM:619895)
Gene: PLCH1
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: HOLOPROSENCEPHALY 14 (OMIM:619895)
Gene: PLCH1
Phenotype: Aplasia of the falx cerebri (HP:0010654)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: HOLOPROSENCEPHALY 14 (OMIM:619895)
Gene: PLCH1
Phenotype: Periventricular heterotopia (HP:0007165)
Associated disease: HOLOPROSENCEPHALY 14 (OMIM:619895)
Gene: PLCH1
Phenotype: Abnormal heart rate variability (HP:0031860)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Alobar holoprosencephaly (HP:0006988)
Associated disease: HOLOPROSENCEPHALY 14 (OMIM:619895)
Gene: PLCH1
Phenotype: Short stature (HP:0004322)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Sleep-wake cycle disturbance (HP:0006979)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Irritability (HP:0000737)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Anxiety (HP:0000739)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Abnormal gastrointestinal tract morphology (HP:0012718)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Apathy (HP:0000741)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Depression (HP:0000716)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Fetal onset (HP:0011461)
Associated disease: HOLOPROSENCEPHALY 14 (OMIM:619895)
Gene: PLCH1
Phenotype: Abnormal central motor function (HP:0011442)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Panhypopituitarism (HP:0000871)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Proboscis (HP:0012806)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Proboscis (HP:0012806)
Associated disease: HOLOPROSENCEPHALY 14 (OMIM:619895)
Gene: PLCH1
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Abnormality of limbs (HP:0040064)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Neural tube defect (HP:0045005)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Abnormal hypothalamus physiology (HP:0012285)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: HOLOPROSENCEPHALY 14 (OMIM:619895)
Gene: PLCH1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: HOLOPROSENCEPHALY 14 (OMIM:619895)
Gene: PLCH1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Microcephaly (HP:0000252)
Associated disease: HOLOPROSENCEPHALY 14 (OMIM:619895)
Gene: PLCH1
Phenotype: High palate (HP:0000218)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Central apnea (HP:0002871)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Growth delay (HP:0001510)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Low-set ears (HP:0000369)
Associated disease: HOLOPROSENCEPHALY 14 (OMIM:619895)
Gene: PLCH1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: HOLOPROSENCEPHALY 14 (OMIM:619895)
Gene: PLCH1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Partial absence of cerebellar vermis (HP:0002951)
Associated disease: HOLOPROSENCEPHALY 14 (OMIM:619895)
Gene: PLCH1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Macrotia (HP:0000400)
Associated disease: HOLOPROSENCEPHALY 14 (OMIM:619895)
Gene: PLCH1
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: HOLOPROSENCEPHALY 14 (OMIM:619895)
Gene: PLCH1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: HOLOPROSENCEPHALY 14 (OMIM:619895)
Gene: PLCH1
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SPEN
Phenotype: Tapered finger (HP:0001182)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Brachydactyly (HP:0001156)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Brachydactyly (HP:0001156)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Fetal distress (HP:0025116)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Poor speech (HP:0002465)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Ocular albinism (HP:0001107)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: High anterior hairline (HP:0009890)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Microtia (HP:0008551)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Motor delay (HP:0001270)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Gait disturbance (HP:0001288)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Seizure (HP:0001250)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Seizure (HP:0001250)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Hypotonia (HP:0001252)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Hypotonia (HP:0001252)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Ataxia (HP:0001251)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Intellectual disability (HP:0001249)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Intellectual disability (HP:0001249)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Polyphagia (HP:0002591)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Global developmental delay (HP:0001263)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Abnormal female external genitalia morphology (HP:0000055)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Joint stiffness (HP:0001387)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Hypospadias (HP:0000047)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Absent speech (HP:0001344)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Absent speech (HP:0001344)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Tremor (HP:0001337)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Scoliosis (HP:0002650)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Scoliosis (HP:0002650)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Narrow mouth (HP:0000160)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Hypogonadism (HP:0000135)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Wide mouth (HP:0000154)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: High, narrow palate (HP:0002705)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Renal cyst (HP:0000107)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Abnormality of the immune system (HP:0002715)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Constipation (HP:0002019)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Constipation (HP:0002019)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Dysphagia (HP:0002015)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Dysphagia (HP:0002015)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Frontal bossing (HP:0002007)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Frontal bossing (HP:0002007)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Midface retrusion (HP:0011800)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Lower limb asymmetry (HP:0100559)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Gait imbalance (HP:0002141)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Spinal canal stenosis (HP:0003416)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Abnormal intestine morphology (HP:0002242)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Impulsivity (HP:0100710)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Large earlobe (HP:0009748)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Striae distensae (HP:0001065)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Hemangioma (HP:0001028)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Telangiectasia (HP:0001009)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Hirsutism (HP:0001007)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: EEG abnormality (HP:0002353)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: High hypermetropia (HP:0008499)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Drooling (HP:0002307)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Nystagmus (HP:0000639)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Optic atrophy (HP:0000648)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Dental crowding (HP:0000678)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Synophrys (HP:0000664)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Short stature (HP:0004322)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Abnormality of the anus (HP:0004378)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)