TaoMedAI/RareMedData huggingface dataset:
Gene: PSMD12
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: STANKIEWICZ-ISIDOR SYNDROME (OMIM:617516)
Gene: PSMD12
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: STANKIEWICZ-ISIDOR SYNDROME (OMIM:617516)
Gene: PSMD12
Phenotype: Scoliosis (HP:0002650)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Generalized neonatal hypotonia (HP:0008935)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: STANKIEWICZ-ISIDOR SYNDROME (OMIM:617516)
Gene: PSMD12
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Crossed fused renal ectopia (HP:0004736)
Associated disease: STANKIEWICZ-ISIDOR SYNDROME (OMIM:617516)
Gene: PSMD12
Phenotype: Congenital onset (HP:0003577)
Associated disease: STANKIEWICZ-ISIDOR SYNDROME (OMIM:617516)
Gene: PSMD12
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: STANKIEWICZ-ISIDOR SYNDROME (OMIM:617516)
Gene: PSMD12
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: STANKIEWICZ-ISIDOR SYNDROME (OMIM:617516)
Gene: PSMD12
Phenotype: Upper limb undergrowth (HP:0009824)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Hemihypotrophy of lower limb (HP:0200053)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Impaired visuospatial constructive cognition (HP:0010794)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Absent thumb (HP:0009777)
Associated disease: STANKIEWICZ-ISIDOR SYNDROME (OMIM:617516)
Gene: PSMD12
Phenotype: Short thumb (HP:0009778)
Associated disease: STANKIEWICZ-ISIDOR SYNDROME (OMIM:617516)
Gene: PSMD12
Phenotype: Nystagmus (HP:0000639)
Associated disease: STANKIEWICZ-ISIDOR SYNDROME (OMIM:617516)
Gene: PSMD12
Phenotype: Truncal obesity (HP:0001956)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Pineal cyst (HP:0012683)
Associated disease: STANKIEWICZ-ISIDOR SYNDROME (OMIM:617516)
Gene: PSMD12
Phenotype: Pineal cyst (HP:0012683)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Tooth malposition (HP:0000692)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Broad thumb (HP:0011304)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Synophrys (HP:0000664)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Abnormality of the ankle (HP:0003028)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Abnormality of the wrist (HP:0003019)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Hallucinations (HP:0000738)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Anxiety (HP:0000739)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: STANKIEWICZ-ISIDOR SYNDROME (OMIM:617516)
Gene: PSMD12
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Emotional lability (HP:0000712)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Autistic behavior (HP:0000729)
Associated disease: STANKIEWICZ-ISIDOR SYNDROME (OMIM:617516)
Gene: PSMD12
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Childhood onset (HP:0011463)
Associated disease: STANKIEWICZ-ISIDOR SYNDROME (OMIM:617516)
Gene: PSMD12
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Patent ductus arteriosus after birth at term (HP:0011648)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Sacral dimple (HP:0000960)
Associated disease: STANKIEWICZ-ISIDOR SYNDROME (OMIM:617516)
Gene: PSMD12
Phenotype: Retrognathia (HP:0000278)
Associated disease: STANKIEWICZ-ISIDOR SYNDROME (OMIM:617516)
Gene: PSMD12
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Otosclerosis (HP:0000362)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Hearing impairment (HP:0000365)
Associated disease: STANKIEWICZ-ISIDOR SYNDROME (OMIM:617516)
Gene: PSMD12
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: STANKIEWICZ-ISIDOR SYNDROME (OMIM:617516)
Gene: PSMD12
Phenotype: Low-set ears (HP:0000369)
Associated disease: STANKIEWICZ-ISIDOR SYNDROME (OMIM:617516)
Gene: PSMD12
Phenotype: Micrognathia (HP:0000347)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Micrognathia (HP:0000347)
Associated disease: STANKIEWICZ-ISIDOR SYNDROME (OMIM:617516)
Gene: PSMD12
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Hypertelorism (HP:0000316)
Associated disease: STANKIEWICZ-ISIDOR SYNDROME (OMIM:617516)
Gene: PSMD12
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: STANKIEWICZ-ISIDOR SYNDROME (OMIM:617516)
Gene: PSMD12
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Truncus arteriosus (HP:0001660)
Associated disease: STANKIEWICZ-ISIDOR SYNDROME (OMIM:617516)
Gene: PSMD12
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Short philtrum (HP:0000322)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Triangular face (HP:0000325)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: STANKIEWICZ-ISIDOR SYNDROME (OMIM:617516)
Gene: PSMD12
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: STANKIEWICZ-ISIDOR SYNDROME (OMIM:617516)
Gene: PSMD12
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: STANKIEWICZ-ISIDOR SYNDROME (OMIM:617516)
Gene: PSMD12
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Strabismus (HP:0000486)
Associated disease: STANKIEWICZ-ISIDOR SYNDROME (OMIM:617516)
Gene: PSMD12
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Broad neck (HP:0000475)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Short neck (HP:0000470)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Prominent nose (HP:0000448)
Associated disease: STANKIEWICZ-ISIDOR SYNDROME (OMIM:617516)
Gene: PSMD12
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Ptosis (HP:0000508)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSMD12
Phenotype: Myopia (HP:0000545)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: PSPH
Phenotype: Hypertonia (HP:0001276)
Associated disease: PHOSPHOSERINE PHOSPHATASE DEFICIENCY (OMIM:614023)
Gene: PSPH
Phenotype: Hypertonia (HP:0001276)
Associated disease: PSPH deficiency, infantile/juvenile form; 3-phosphoserine phosphatase deficiency, infantile/juvenile form (ORPHA:79350)
Gene: PSPH
Phenotype: Seizure (HP:0001250)
Associated disease: PHOSPHOSERINE PHOSPHATASE DEFICIENCY (OMIM:614023)
Gene: PSPH
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PHOSPHOSERINE PHOSPHATASE DEFICIENCY (OMIM:614023)
Gene: PSPH
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PSPH deficiency, infantile/juvenile form; 3-phosphoserine phosphatase deficiency, infantile/juvenile form (ORPHA:79350)
Gene: PSPH
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PHOSPHOSERINE PHOSPHATASE DEFICIENCY (OMIM:614023)
Gene: PSPH
Phenotype: Hypospadias (HP:0000047)
Associated disease: PSPH deficiency, infantile/juvenile form; 3-phosphoserine phosphatase deficiency, infantile/juvenile form (ORPHA:79350)
Gene: PSPH
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: PHOSPHOSERINE PHOSPHATASE DEFICIENCY (OMIM:614023)
Gene: PSPH
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: PSPH deficiency, infantile/juvenile form; 3-phosphoserine phosphatase deficiency, infantile/juvenile form (ORPHA:79350)
Gene: PSPH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PHOSPHOSERINE PHOSPHATASE DEFICIENCY (OMIM:614023)
Gene: PSPH
Phenotype: Wide mouth (HP:0000154)
Associated disease: PSPH deficiency, infantile/juvenile form; 3-phosphoserine phosphatase deficiency, infantile/juvenile form (ORPHA:79350)
Gene: PSPH
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: PSPH deficiency, infantile/juvenile form; 3-phosphoserine phosphatase deficiency, infantile/juvenile form (ORPHA:79350)
Gene: PSPH
Phenotype: Palpebral edema (HP:0100540)
Associated disease: PSPH deficiency, infantile/juvenile form; 3-phosphoserine phosphatase deficiency, infantile/juvenile form (ORPHA:79350)
Gene: PSPH
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: PSPH deficiency, infantile/juvenile form; 3-phosphoserine phosphatase deficiency, infantile/juvenile form (ORPHA:79350)
Gene: PSPH
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: PHOSPHOSERINE PHOSPHATASE DEFICIENCY (OMIM:614023)
Gene: PSPH
Phenotype: Infantile onset (HP:0003593)
Associated disease: PHOSPHOSERINE PHOSPHATASE DEFICIENCY (OMIM:614023)
Gene: PSPH
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PSPH deficiency, infantile/juvenile form; 3-phosphoserine phosphatase deficiency, infantile/juvenile form (ORPHA:79350)
Gene: PSPH
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: PSPH deficiency, infantile/juvenile form; 3-phosphoserine phosphatase deficiency, infantile/juvenile form (ORPHA:79350)
Gene: PSPH
Phenotype: Esophagitis (HP:0100633)
Associated disease: PSPH deficiency, infantile/juvenile form; 3-phosphoserine phosphatase deficiency, infantile/juvenile form (ORPHA:79350)
Gene: PSPH
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: PSPH deficiency, infantile/juvenile form; 3-phosphoserine phosphatase deficiency, infantile/juvenile form (ORPHA:79350)
Gene: PSPH
Phenotype: Hyposerinemia (HP:0012279)
Associated disease: PSPH deficiency, infantile/juvenile form; 3-phosphoserine phosphatase deficiency, infantile/juvenile form (ORPHA:79350)
Gene: PSPH
Phenotype: Hyposerinemia (HP:0012279)
Associated disease: PHOSPHOSERINE PHOSPHATASE DEFICIENCY (OMIM:614023)
Gene: PSPH
Phenotype: Full cheeks (HP:0000293)
Associated disease: PSPH deficiency, infantile/juvenile form; 3-phosphoserine phosphatase deficiency, infantile/juvenile form (ORPHA:79350)
Gene: PSPH
Phenotype: Microcephaly (HP:0000252)
Associated disease: PSPH deficiency, infantile/juvenile form; 3-phosphoserine phosphatase deficiency, infantile/juvenile form (ORPHA:79350)
Gene: PSPH
Phenotype: Microcephaly (HP:0000252)
Associated disease: PHOSPHOSERINE PHOSPHATASE DEFICIENCY (OMIM:614023)
Gene: PSPH
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: PHOSPHOSERINE PHOSPHATASE DEFICIENCY (OMIM:614023)
Gene: PSPH
Phenotype: Narrow forehead (HP:0000341)
Associated disease: PSPH deficiency, infantile/juvenile form; 3-phosphoserine phosphatase deficiency, infantile/juvenile form (ORPHA:79350)
Gene: PSPH
Phenotype: Broad forehead (HP:0000337)
Associated disease: PSPH deficiency, infantile/juvenile form; 3-phosphoserine phosphatase deficiency, infantile/juvenile form (ORPHA:79350)
Gene: PSPH
Phenotype: Micrognathia (HP:0000347)
Associated disease: PSPH deficiency, infantile/juvenile form; 3-phosphoserine phosphatase deficiency, infantile/juvenile form (ORPHA:79350)
Gene: PTCH1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Poor speech (HP:0002465)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: PTCH1
Phenotype: Poor speech (HP:0002465)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Poor speech (HP:0002465)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Poor speech (HP:0002465)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Orbital cyst (HP:0001144)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Expressive language delay (HP:0002474)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: PTCH1
Phenotype: Occipital meningocele (HP:0002436)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Limb dystonia (HP:0002451)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: PTCH1
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: PTCH1
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Single naris (HP:0009932)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Single naris (HP:0009932)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: PTCH1
Phenotype: Single naris (HP:0009932)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Single naris (HP:0009932)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Cyclopia (HP:0009914)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: PTCH1
Phenotype: Cyclopia (HP:0009914)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Cyclopia (HP:0009914)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: PTCH1
Phenotype: Cyclopia (HP:0009914)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Cyclopia (HP:0009914)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Thickened ears (HP:0009894)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
Phenotype: Abnormal midbrain morphology (HP:0002418)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: PTCH1
Phenotype: Spina bifida (HP:0002414)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: PTCH1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: PTCH1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: PTCH1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: PTCH1
Phenotype: Motor delay (HP:0001270)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Lethargy (HP:0001254)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: PTCH1
Phenotype: Lethargy (HP:0001254)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Lethargy (HP:0001254)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Lethargy (HP:0001254)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Seizure (HP:0001250)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Seizure (HP:0001250)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Seizure (HP:0001250)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: PTCH1
Phenotype: Seizure (HP:0001250)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
Phenotype: Seizure (HP:0001250)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: PTCH1
Phenotype: Seizure (HP:0001250)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Seizure (HP:0001250)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: PTCH1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: PTCH1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: PTCH1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
Phenotype: Spasticity (HP:0001257)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: PTCH1
Phenotype: Spasticity (HP:0001257)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Spasticity (HP:0001257)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Spasticity (HP:0001257)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: PTCH1
Phenotype: Abnormal septum pellucidum morphology (HP:0007375)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)