{"Name":"Knobloch syndrome 1","DiseaseID__c":"GARD:0000380","id":380,"encodedName":"knobloch-syndrome-1","IsDeleted":false,"Disease_Name_Full__c":"Knobloch syndrome 1","Xref_IDs__c":"703542000; C201594; C4551775; C537209; MEDGEN:1642123; MONDO:0800167; OMIM:267750","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"GARD:0000380","Disease_Description__c":"Knobloch syndrome is characterized by severe vision problems and skull defects. The most common features include extreme nearsightedness (high myopia), recurrent retinal detachment, and occipital encephalocele. There are three types of Knobloch syndrome, which can be distinguished by the underlying genetic cause. Knobloch syndrome type I is caused by genetic changes in the COL18A1 gene. The genes associated with Knobloch syndrome type 2 and type 3 have not been identified; however, Knobloch syndrome type 3 has been linked to a specific region on chromosome 17, known as 17q11.2. Knobloch syndrome follows an autosomal recessive pattern of inheritance.","GARD_Name__c":"Knobloch syndrome 1","GARD_Synonym__c":"kno1; knobloch syndrome type 1; knobloch syndrome type i; knobloch syndrome, type 1; knobloch-layer syndrome; retinal detachment-occipital encephalocele syndrome","Curated_Disease_Description_Source__c":"GARD:0000380","Curated_Disease_Description__c":"This rare genetic disease causes serious vision problems along with defects in the back part of the skull. It is marked by very strong nearsightedness, repeated episodes where the retina pulls away from the back of the eye (retinal detachment), and a bulge or opening in the skull near the back of the head called an occipital encephalocele. There are three known types of this disease, which are grouped based on their genetic causes. Type 1 happens because of changes in a gene called COL18A1. The specific genes for types 2 and 3 are not yet known, but type 3 has been mapped to a particular area on chromosome 17 known as 17q11.2. This disease follows an autosomal recessive pattern, which means a child is affected when they inherit a nonworking copy of the relevant gene from both parents, who are usually carriers and typically do not have symptoms themselves.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:1571","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0800167","ORPHANET_ID__c":"ORPHA:1571","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"This rare genetic disease causes serious vision problems along with defects in the back part of the skull. It is marked by very strong nearsightedness, repeated episodes where the retina pulls away from the back of the eye (retinal detachment), and a bulge or opening in the skull near the back of the head called an occipital encephalocele. There are three known types of this disease, which are grouped based on their genetic causes. Type 1 happens because of changes in a gene called COL18A1. The specific genes for types 2 and 3 are not yet known, but type 3 has been mapped to a particular area on chromosome 17 known as 17q11.2. This disease follows an autosomal recessive pattern, which means a child is affected when they inherit a nonworking copy of the relevant gene from both parents, who are usually carriers and typically do not have symptoms themselves.","Curated_Disease_Description_Source__c":"GARD:0000380","GARD_Synonym__c":"kno1; knobloch syndrome type 1; knobloch syndrome type i; knobloch syndrome, type 1; knobloch-layer syndrome; retinal detachment-occipital encephalocele syndrome","Name":"Knobloch syndrome 1","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Alliance for Eye and Vision Research","Website__c":"http://www.eyeresearch.org/"},{"Account_Name__c":"Foundation Fighting Blindness","Website__c":"https://www.fightingblindness.org/"},{"Account_Name__c":"Retina International","Website__c":"https://retina-international.org/"},{"Account_Name__c":"Humans with Knobloch Syndrome","Website__c":"https://www.knoblochsyndromesupport.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1849409"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000380","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=703542000","Source__c":"MONDO:0800167","Xref__c":"703542000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537209","Source__c":"MONDO:0800167","Xref__c":"C537209"},{"URL__c":"https://www.omim.org/entry/267750","Source__c":"C4551775; MONDO:0800167","Xref__c":"OMIM:267750"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4551775","Source__c":"C4551775","Xref__c":"C4551775"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1642123","Source__c":"C4551775","Xref__c":"MEDGEN:1642123"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0800167","Source__c":"GARD:0000380","Xref__c":"MONDO:0800167"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C201594","Source__c":"C4551775","Xref__c":"C201594"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"COL18A1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/col18a1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:267750","Feature__r":{"HPO_Description__c":"A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002085","HPO_Synonym__c":"Brain tissue sticks out through back of skull; Occipital meningoencephalocele; Posterior encephalocele","HPO_Name__c":"Occipital encephalocele","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Ocular abnormality characterized by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007773","HPO_Synonym__c":"Vitreoretinal abnormality; Vitreoretinal degeneration","HPO_Name__c":"Vitreoretinopathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001382","HPO_Synonym__c":"Double-Jointed; Extensible joints; Flexible joints; Hyperextensible joints; Increased joint mobility; Increased mobility of joints; Joint hyperextensibility; Joint hyperflexibility; Joint hyperlaxity; Joint laxity; Joints move beyond expected range of motion; Lax joints; Loose-jointedness","HPO_Name__c":"Joint hypermobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000286","HPO_Synonym__c":"Epicanthal fold; Epicanthal folds; Epicanthic folds; Eye folds; Palpebronasal fold; Plica palpebronasalis; Prominent eye folds","HPO_Name__c":"Epicanthus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011800","HPO_Synonym__c":"Decreased size of midface; Flat midface; Hypoplasia of midface; Midface deficiency; Midface hypoplasia; Midface retrusion; Midface, flat; Retrusive midface; Underdevelopment of midface","HPO_Name__c":"Midface retrusion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001643","HPO_Synonym__c":"Ductus arteriosus; Patent ductus Botalli; PDA; Persistent arterial duct; Persistent ductus arteriosus","HPO_Name__c":"Patent ductus arteriosus","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Pyloric stenosis, also known as infantile hypertrophic pyloric stenosis, is an uncommon condition in infants characterized by abnormal thickening of the pylorus muscles in the stomach leading to gastric outlet obstruction. Clinically infants are well at birth. Then, at 3 to 6 weeks of age, the infants present with projectile vomiting, potentially leading to dehydration and weight loss.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002021","HPO_Synonym__c":"Infantile hypertrophic pyloric stenosis; Pylorus stenosis","HPO_Name__c":"Pyloric stenosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","Feature__r":{"HPO_Description__c":"Incomplete duplication of the ureter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030037","HPO_Name__c":"Bifid ureter","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Posterior positioning of the nasal root in relation to the overall facial profile for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005280","HPO_Synonym__c":"Depressed bridge of nose; Depressed nasal bridge; Depressed nasal root; Flat bridge of nose; Flat nasal bridge; Flat nasal root; Flat, nasal bridge; Flattened nasal bridge; Low nasal bridge; Low nasal root; Retruded bridge of nose; Retruded nasal bridge","HPO_Name__c":"Depressed nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Separation of the inner layers of the retina (neural retina) from the pigment epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000541","HPO_Synonym__c":"Detached retina; Retinal detachment","HPO_Name__c":"Retinal detachment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0500087","HPO_Name__c":"Peripapillary atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032794","HPO_Name__c":"Myoclonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A herniation of meninges through a congenital bone defect in the skull in the occipital region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002436","HPO_Name__c":"Occipital meningocele","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000501","HPO_Name__c":"Glaucoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased volume and globular shape of the anteroinferior aspect of the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000414","HPO_Synonym__c":"Bulbous nose","HPO_Name__c":"Bulbous nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009917","HPO_Name__c":"Persistent pupillary membrane","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000505","HPO_Synonym__c":"Impaired vision; Loss of eyesight; Poor vision; Visual impairment","HPO_Name__c":"Visual impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Nystagmus consisting of horizontal to-and-fro eye movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000666","HPO_Synonym__c":"Nystagmus, horizontal","HPO_Name__c":"Horizontal nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A severe form of myopia with greater than -6.00 diopters.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011003","HPO_Synonym__c":"Severe myopia; Severe myopia (> -6.00 diopters); Severe near sightedness; Severely close sighted; Severely near sighted","HPO_Name__c":"High myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002126","HPO_Synonym__c":"More grooves in brain","HPO_Name__c":"Polymicrogyria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000506","HPO_Synonym__c":"Corners of eye widely separated; Dystopia canthorum; Increased distance between medial canthi; Increased intercanthal distance","HPO_Name__c":"Telecanthus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012805","HPO_Name__c":"Iris transillumination defect","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Forward prominence of the entire forehead, due to protrusion of the frontal bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011220","HPO_Synonym__c":"Prominence of frontal region; Prominent forehead; Pronounced forehead; Protruding forehead","HPO_Name__c":"Prominent forehead","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the macula lutea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001104","HPO_Name__c":"Macular hypoplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Severe distention of the kidney with dilation of the renal pelvis and calices.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000126","HPO_Name__c":"Hydronephrosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Partial dislocation of the lens of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001132","HPO_Synonym__c":"Partially dislocated lens","HPO_Name__c":"Lens subluxation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. 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The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000081","HPO_Synonym__c":"Double collecting system; Double urinary collecting systems on intravenous pyelography; Duplex collecting system; Duplicated renal collecting system","HPO_Name__c":"Duplicated collecting system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An eyebrow that extends straight across the brow, without curve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011228","HPO_Synonym__c":"Flat eyebrow; Horizontal eyebrow; Straight eyebrow","HPO_Name__c":"Horizontal eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001272","HPO_Synonym__c":"Atrophic cerebellum; Degeneration of cerebellum","HPO_Name__c":"Cerebellar atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Nystagmus made apparent by looking to the right or to the left.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000640","HPO_Name__c":"Gaze-evoked nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000075","HPO_Synonym__c":"Duplex kidney; Duplicated kidney; Extra kidney","HPO_Name__c":"Renal duplication","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000585","HPO_Synonym__c":"Calcific band keratopathy","HPO_Name__c":"Band keratopathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","Feature__r":{"HPO_Description__c":"Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000667","HPO_Name__c":"Phthisis bulbi","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Atrophy (wasting) of the choroid and retinal layers of the fundus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000533","HPO_Synonym__c":"Chorioretinal degeneration; Chorioretinal thinning","HPO_Name__c":"Chorioretinal atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000543","HPO_Synonym__c":"Pale optic disc","HPO_Name__c":"Optic disc pallor","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","Feature__r":{"HPO_Description__c":"Reduced velocity and acceleration in the pupillary light response.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030211","HPO_Synonym__c":"Sluggish pupillary reaction; Sluggish pupillary reactions to light","HPO_Name__c":"Slow pupillary light response","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002059","HPO_Synonym__c":"Degeneration of cerebrum","HPO_Name__c":"Cerebral atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of the septum pellucidum (meaning translucent wall in Latin - SP), also known as the ventricle of Sylvius. The septum pellucidum is a thin, triangular double membrane separating the frontal horns of the right and left lateral ventricles of the brain. It extends between the anterior portion of the corpus callosum, and the body of the fornix and its width varies from 1.5 to 3.0 mm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001331","HPO_Synonym__c":"Absence of septum pellucidum; Absence of the septum pellucidum; Agenesis of the septum pellucidum; Missing septum pellucidum","HPO_Name__c":"Absent septum pellucidum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increase in size of the ventricular system of the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002119","HPO_Synonym__c":"Cerebral ventricular dilatation; Dilated cerebral ventricle; Dilated cerebral ventricles; Dilated ventricles; Enlarged cerebral ventricles; Enlarged ventricles; Enlarged ventricular system; Large cerebral ventricles and cisternae; Ventricular dilatation","HPO_Name__c":"Ventriculomegaly","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002293","HPO_Synonym__c":"Pathologic hair loss from scalp; Scalp hair loss","HPO_Name__c":"Alopecia of scalp","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003298","HPO_Synonym__c":"Hidden spina bifida","HPO_Name__c":"Spina bifida occulta","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267750","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Narrowing of the retinal blood vessels, both arterioles and venules.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007843","HPO_Synonym__c":"Narrowing of blood vessels in back of eye","HPO_Name__c":"Attenuation of retinal blood vessels","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Ophthalmology","Retinal","Neurodevelopmental disabilities"],"Account":["Retinal"]},"synonyms":["kno1"," knobloch syndrome type 1"," knobloch syndrome type i"," knobloch syndrome, type 1"," knobloch-layer syndrome"," retinal detachment-occipital encephalocele syndrome"]}