TaoMedAI/RareMedData huggingface dataset:
Gene: SPEN
Phenotype: Macule (HP:0012733)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Autism (HP:0000717)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Autistic behavior (HP:0000729)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Atypical behavior (HP:0000708)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Myopathy (HP:0003198)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Rib fusion (HP:0000902)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: 11 pairs of ribs (HP:0000878)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Bifid ribs (HP:0000892)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Precocious puberty (HP:0000826)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Hypothyroidism (HP:0000821)
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 eyebrows (HP:0004523)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Dry skin (HP:0000958)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Epicanthus (HP:0000286)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Epicanthus (HP:0000286)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Coarse facial features (HP:0000280)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Retrognathia (HP:0000278)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Long face (HP:0000276)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Aortic arch aneurysm (HP:0005113)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Kyphosis (HP:0002808)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Microcephaly (HP:0000252)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Microcephaly (HP:0000252)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Brachycephaly (HP:0000248)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: High palate (HP:0000218)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Failure to thrive (HP:0001508)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Obesity (HP:0001513)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Obesity (HP:0001513)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Hearing impairment (HP:0000365)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Low-set ears (HP:0000369)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Narrow forehead (HP:0000341)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
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 philtrum (HP:0000343)
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 philtrum (HP:0000343)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Micrognathia (HP:0000347)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Hypertelorism (HP:0000316)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Dilated cardiomyopathy (HP:0001644)
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 heart valve morphology (HP:0001654)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Short philtrum (HP:0000322)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Pointed chin (HP:0000307)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Pointed chin (HP:0000307)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Oval face (HP:0000300)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Annular pancreas (HP:0001734)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Prominent nasal tip (HP:0005274)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Strabismus (HP:0000486)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Deeply set eye (HP:0000490)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Deeply set eye (HP:0000490)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Small nail (HP:0001792)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Abnormality of the neck (HP:0000464)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Anteverted nares (HP:0000463)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Short foot (HP:0001773)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Pes planus (HP:0001763)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Bulbous nose (HP:0000414)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Abnormality of the spleen (HP:0001743)
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 nasal bridge (HP:0000431)
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 nasal bridge (HP:0000431)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Pes cavus (HP:0001761)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Cataract (HP:0000518)
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 eyelashes (HP:0000527)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Visual impairment (HP:0000505)
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 vision (HP:0000504)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Horizontal eyebrow (HP:0011228)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SPEN
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Gene: SPEN
Phenotype: Abnormal eyebrow morphology (HP:0000534)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: CNOT1
Phenotype: Tapered finger (HP:0001182)
Associated disease: VISSERS-BODMER SYNDROME (OMIM:619033)
Gene: CNOT1
Phenotype: Abnormal external nose morphology (HP:0010938)
Associated disease: Pancreatic agenesis-holoprosencephaly syndrome (ORPHA:556955)
Gene: CNOT1
Phenotype: Microtia (HP:0008551)
Associated disease: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS (OMIM:618500)
Gene: CNOT1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS (OMIM:618500)
Gene: CNOT1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: VISSERS-BODMER SYNDROME (OMIM:619033)
Gene: CNOT1
Phenotype: Pancreatic aplasia (HP:0100801)
Associated disease: Pancreatic agenesis-holoprosencephaly syndrome (ORPHA:556955)
Gene: CNOT1
Phenotype: Pancreatic aplasia (HP:0100801)
Associated disease: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS (OMIM:618500)
Gene: CNOT1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS (OMIM:618500)
Gene: CNOT1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Pancreatic agenesis-holoprosencephaly syndrome (ORPHA:556955)
Gene: CNOT1
Phenotype: Motor delay (HP:0001270)
Associated disease: VISSERS-BODMER SYNDROME (OMIM:619033)
Gene: CNOT1
Phenotype: Seizure (HP:0001250)
Associated disease: VISSERS-BODMER SYNDROME (OMIM:619033)
Gene: CNOT1
Phenotype: Seizure (HP:0001250)
Associated disease: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS (OMIM:618500)
Gene: CNOT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: VISSERS-BODMER SYNDROME (OMIM:619033)
Gene: CNOT1
Phenotype: Dysarthria (HP:0001260)
Associated disease: VISSERS-BODMER SYNDROME (OMIM:619033)
Gene: CNOT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: VISSERS-BODMER SYNDROME (OMIM:619033)
Gene: CNOT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS (OMIM:618500)
Gene: CNOT1
Phenotype: Spasticity (HP:0001257)
Associated disease: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS (OMIM:618500)
Gene: CNOT1
Phenotype: Hitchhiker thumb (HP:0001234)
Associated disease: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS (OMIM:618500)
Gene: CNOT1
Phenotype: Hypoamylasemia (HP:0410289)
Associated disease: Pancreatic agenesis-holoprosencephaly syndrome (ORPHA:556955)
Gene: CNOT1
Phenotype: Semilobar holoprosencephaly (HP:0002507)
Associated disease: Pancreatic agenesis-holoprosencephaly syndrome (ORPHA:556955)
Gene: CNOT1
Phenotype: Semilobar holoprosencephaly (HP:0002507)
Associated disease: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS (OMIM:618500)
Gene: CNOT1
Phenotype: Neonatal death (HP:0003811)
Associated disease: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS (OMIM:618500)
Gene: CNOT1
Phenotype: Tall stature (HP:0000098)
Associated disease: VISSERS-BODMER SYNDROME (OMIM:619033)
Gene: CNOT1
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: VISSERS-BODMER SYNDROME (OMIM:619033)
Gene: CNOT1
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: Pancreatic agenesis-holoprosencephaly syndrome (ORPHA:556955)
Gene: CNOT1
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS (OMIM:618500)
Gene: CNOT1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS (OMIM:618500)
Gene: CNOT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VISSERS-BODMER SYNDROME (OMIM:619033)
Gene: CNOT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS (OMIM:618500)
Gene: CNOT1
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: Pancreatic agenesis-holoprosencephaly syndrome (ORPHA:556955)
Gene: CNOT1
Phenotype: Decreased circulating lipoprotein lipase concentration (HP:0031209)
Associated disease: Pancreatic agenesis-holoprosencephaly syndrome (ORPHA:556955)
Gene: CNOT1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS (OMIM:618500)
Gene: CNOT1
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS (OMIM:618500)
Gene: CNOT1
Phenotype: Congenital onset (HP:0003577)
Associated disease: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS (OMIM:618500)
Gene: CNOT1
Phenotype: Hypoplasia of the zygomatic bone (HP:0010669)
Associated disease: Pancreatic agenesis-holoprosencephaly syndrome (ORPHA:556955)
Gene: CNOT1
Phenotype: Hypoplasia of the zygomatic bone (HP:0010669)
Associated disease: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS (OMIM:618500)
Gene: CNOT1
Phenotype: Aplasia/Hypoplasia of the phalanges of the thumb (HP:0009658)
Associated disease: Pancreatic agenesis-holoprosencephaly syndrome (ORPHA:556955)
Gene: CNOT1
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS (OMIM:618500)
Gene: CNOT1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: VISSERS-BODMER SYNDROME (OMIM:619033)
Gene: CNOT1
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS (OMIM:618500)
Gene: CNOT1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS (OMIM:618500)
Gene: CNOT1
Phenotype: Lobar holoprosencephaly (HP:0006870)
Associated disease: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS (OMIM:618500)
Gene: CNOT1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS (OMIM:618500)
Gene: CNOT1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Pancreatic agenesis-holoprosencephaly syndrome (ORPHA:556955)
Gene: CNOT1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: VISSERS-BODMER SYNDROME (OMIM:619033)
Gene: CNOT1
Phenotype: Decreased body weight (HP:0004325)
Associated disease: VISSERS-BODMER SYNDROME (OMIM:619033)
Gene: CNOT1
Phenotype: Short stature (HP:0004322)
Associated disease: VISSERS-BODMER SYNDROME (OMIM:619033)
Gene: CNOT1
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS (OMIM:618500)
Gene: CNOT1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: VISSERS-BODMER SYNDROME (OMIM:619033)
Gene: CNOT1
Phenotype: Absent gallbladder (HP:0011467)
Associated disease: Pancreatic agenesis-holoprosencephaly syndrome (ORPHA:556955)
Gene: CNOT1
Phenotype: Absent gallbladder (HP:0011467)
Associated disease: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS (OMIM:618500)
Gene: CNOT1
Phenotype: Reduced C-peptide level (HP:0030795)
Associated disease: Pancreatic agenesis-holoprosencephaly syndrome (ORPHA:556955)
Gene: CNOT1
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS (OMIM:618500)
Gene: CNOT1
Phenotype: Neonatal insulin-dependent diabetes mellitus (HP:0000857)
Associated disease: Pancreatic agenesis-holoprosencephaly syndrome (ORPHA:556955)
Gene: CNOT1
Phenotype: Decreased head circumference (HP:0040195)
Associated disease: VISSERS-BODMER SYNDROME (OMIM:619033)
Gene: CNOT1
Phenotype: Epicanthus (HP:0000286)
Associated disease: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS (OMIM:618500)
Gene: CNOT1
Phenotype: Prominent occiput (HP:0000269)
Associated disease: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS (OMIM:618500)
Gene: CNOT1
Phenotype: Prominent occiput (HP:0000269)
Associated disease: Pancreatic agenesis-holoprosencephaly syndrome (ORPHA:556955)
Gene: CNOT1
Phenotype: Microcephaly (HP:0000252)
Associated disease: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS (OMIM:618500)
Gene: CNOT1
Phenotype: High palate (HP:0000218)
Associated disease: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS (OMIM:618500)
Gene: CNOT1
Phenotype: High palate (HP:0000218)
Associated disease: Pancreatic agenesis-holoprosencephaly syndrome (ORPHA:556955)
Gene: CNOT1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS (OMIM:618500)
Gene: CNOT1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Pancreatic agenesis-holoprosencephaly syndrome (ORPHA:556955)
Gene: CNOT1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS (OMIM:618500)
Gene: CNOT1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Pancreatic agenesis-holoprosencephaly syndrome (ORPHA:556955)
Gene: CNOT1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: VISSERS-BODMER SYNDROME (OMIM:619033)
Gene: CNOT1
Phenotype: Growth delay (HP:0001510)
Associated disease: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS (OMIM:618500)
Gene: CNOT1
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Pancreatic agenesis-holoprosencephaly syndrome (ORPHA:556955)
Gene: CNOT1
Phenotype: Low-set ears (HP:0000369)
Associated disease: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS (OMIM:618500)
Gene: CNOT1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Pancreatic agenesis-holoprosencephaly syndrome (ORPHA:556955)
Gene: CNOT1
Phenotype: Sloping forehead (HP:0000340)
Associated disease: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS (OMIM:618500)
Gene: CNOT1
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Pancreatic agenesis-holoprosencephaly syndrome (ORPHA:556955)