Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | | | | 1 | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | ATP7A CL E G H | 538 | 869 | OMIM:304150 | Occipital horn syndrome | . | | | 192 | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | BRF1 CL E G H | 2972 | 11551 | ORPHA:444072 | Cerebellar-facial-dental syndrome | | | | 7 | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | CDH11 CL E G H | 1009 | 1750 | ORPHA:1299 | Branchioskeletogenital syndrome | | | | 2 | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:900 | Granulomatosis with polyangiitis | | | | 10 | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | DSTYK CL E G H | 25778 | 29043 | OMIM:610805 | Congenital anomalies of kidney and urinary tract, susceptibility to | | | | 13 | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | EYA1 CL E G H | 2138 | 3519 | ORPHA:107 | BOR syndrome | | | | 135 | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:1826 | Frontometaphyseal dysplasia | HP:0040282 - Frequent | | | 493 | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:309350 | Melnick-Needles syndrome | | | | 493 | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:90652 | Otopalatodigital syndrome type 2 | HP:0040282 - Frequent | | | 493 | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | GNB1 CL E G H | 2782 | 4396 | OMIM:616973 | Mental retardation, autosomal dominant 42 | | | | 12 | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | GRHPR CL E G H | 9380 | 4570 | ORPHA:93599 | Primary hyperoxaluria type 2 | HP:0040282 - Frequent | | | 70 | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | HLA-DPA1 CL E G H | 3113 | 4938 | ORPHA:900 | Granulomatosis with polyangiitis | | | | | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:900 | Granulomatosis with polyangiitis | | | | 1 | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | HNF1B CL E G H | 6928 | 11630 | OMIM:137920 | Renal cysts and diabetes syndrome | | | | 90 | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | HOXA13 CL E G H | 3209 | 5102 | OMIM:140000 | Hand-Foot-Genital syndrome | | | | 11 | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | HOXA13 CL E G H | 3209 | 5102 | ORPHA:2438 | Hand-foot-genital syndrome | | | | 11 | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | KDM6A CL E G H | 7403 | 12637 | ORPHA:2322 | Kabuki syndrome | | | | 53 | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | KDM6A CL E G H | 7403 | 12637 | OMIM:147920 | Kabuki syndrome 1 | | | | 53 | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | KMT2D CL E G H | 8085 | 7133 | ORPHA:2322 | Kabuki syndrome | | | | 660 | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | KMT2D CL E G H | 8085 | 7133 | OMIM:147920 | Kabuki syndrome 1 | | | | 660 | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 116 | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 167 | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 135 | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | MAP3K7 CL E G H | 6885 | 6859 | ORPHA:1826 | Frontometaphyseal dysplasia | HP:0040282 - Frequent | | | 11 | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | MYOD1 CL E G H | 4654 | 7611 | OMIM:618975 | MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF | | | | | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | NODAL CL E G H | 4838 | 7865 | OMIM:270100 | Heterotaxy, visceral, 5 | | | | 45 | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | | | | 544 | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | | | | 36 | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | PIGT CL E G H | 51604 | 14938 | OMIM:615398 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | | | | 12 | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | PRTN3 CL E G H | 5657 | 9495 | ORPHA:900 | Granulomatosis with polyangiitis | | | | | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:900 | Granulomatosis with polyangiitis | | | | 3 | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | | | | 143 | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | | | | 60 | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | SF3B2 CL E G H | 10992 | 10769 | OMIM:164210 | Hemifacial microsomia | | | | 2 | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | SIX1 CL E G H | 6495 | 10887 | ORPHA:107 | BOR syndrome | | | | 50 | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | SIX5 CL E G H | 147912 | 10891 | ORPHA:107 | BOR syndrome | | | | 10 | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | SLC26A1 CL E G H | 10861 | 10993 | OMIM:167030 | Nephrolithiasis, calcium oxalate | | | | 24 | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | SLC35A2 CL E G H | 7355 | 11022 | OMIM:300896 | Congenital disorder of glycosylation, type IIm | | | | 27 | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | TBX18 CL E G H | 9096 | 11595 | OMIM:143400 | Congenital anomalies of kidney and urinary tract 2 | | | | 5 | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | YY1 CL E G H | 7528 | 12856 | ORPHA:506358 | Gabriele-de Vries syndrome | | | | 7 | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | YY1 CL E G H | 7528 | 12856 | OMIM:617557 | Gabriele-De vries syndrome | | | | 7 | | |
HP:0006000 | HP:0006000 | Ureteral obstruction | 0 | ZMYM2 CL E G H | 7750 | 12989 | OMIM:619522 | NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC | | | | | | |
HP:0006000 | HP:0030735 | Ureterovesical junction obstruction | 1 | CL E G H | | | | | | | | | | |
HP:0006000 | HP:0000071 | Ureteral stenosis | 1 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | | | | 1 | | |
HP:0006000 | HP:0000071 | Ureteral stenosis | 1 | BRF1 CL E G H | 2972 | 11551 | ORPHA:444072 | Cerebellar-facial-dental syndrome | | | | 7 | | |
HP:0006000 | HP:0000071 | Ureteral stenosis | 1 | CDH11 CL E G H | 1009 | 1750 | ORPHA:1299 | Branchioskeletogenital syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0006000 | HP:0000071 | Ureteral stenosis | 1 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | 10 | | |
HP:0006000 | HP:0000071 | Ureteral stenosis | 1 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0006000 | HP:0000071 | Ureteral stenosis | 1 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0006000 | HP:0000071 | Ureteral stenosis | 1 | DSTYK CL E G H | 25778 | 29043 | OMIM:610805 | Congenital anomalies of kidney and urinary tract, susceptibility to | | | | 13 | | |
HP:0006000 | HP:0000071 | Ureteral stenosis | 1 | EYA1 CL E G H | 2138 | 3519 | ORPHA:107 | BOR syndrome | | | | 135 | | |
HP:0006000 | HP:0000071 | Ureteral stenosis | 1 | FLNA CL E G H | 2316 | 3754 | OMIM:309350 | Melnick-Needles syndrome | . | | | 493 | | |
HP:0006000 | HP:0000071 | Ureteral stenosis | 1 | GNB1 CL E G H | 2782 | 4396 | OMIM:616973 | Mental retardation, autosomal dominant 42 | | | | 12 | | |
HP:0006000 | HP:0000071 | Ureteral stenosis | 1 | HLA-DPA1 CL E G H | 3113 | 4938 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | | | |
HP:0006000 | HP:0000071 | Ureteral stenosis | 1 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | 1 | | |
HP:0006000 | HP:0000071 | Ureteral stenosis | 1 | HNF1B CL E G H | 6928 | 11630 | OMIM:137920 | Renal cysts and diabetes syndrome | | | | 90 | | |
HP:0006000 | HP:0000071 | Ureteral stenosis | 1 | HOXA13 CL E G H | 3209 | 5102 | ORPHA:2438 | Hand-foot-genital syndrome | | | | 11 | | |
HP:0006000 | HP:0000071 | Ureteral stenosis | 1 | HOXA13 CL E G H | 3209 | 5102 | OMIM:140000 | Hand-Foot-Genital syndrome | | | | 11 | | |
HP:0006000 | HP:0000071 | Ureteral stenosis | 1 | KDM6A CL E G H | 7403 | 12637 | ORPHA:2322 | Kabuki syndrome | | | | 53 | | |
HP:0006000 | HP:0000071 | Ureteral stenosis | 1 | KDM6A CL E G H | 7403 | 12637 | OMIM:147920 | Kabuki syndrome 1 | | | | 53 | | |
HP:0006000 | HP:0000071 | Ureteral stenosis | 1 | KMT2D CL E G H | 8085 | 7133 | ORPHA:2322 | Kabuki syndrome | | | | 660 | | |
HP:0006000 | HP:0000071 | Ureteral stenosis | 1 | KMT2D CL E G H | 8085 | 7133 | OMIM:147920 | Kabuki syndrome 1 | | | | 660 | | |
HP:0006000 | HP:0000071 | Ureteral stenosis | 1 | MYOD1 CL E G H | 4654 | 7611 | OMIM:618975 | MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF | | | | | | |
HP:0006000 | HP:0000071 | Ureteral stenosis | 1 | NODAL CL E G H | 4838 | 7865 | OMIM:270100 | Heterotaxy, visceral, 5 | | | | 45 | | |
HP:0006000 | HP:0000071 | Ureteral stenosis | 1 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | | | | 544 | | |
HP:0006000 | HP:0000071 | Ureteral stenosis | 1 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | | | | 36 | | |
HP:0006000 | HP:0000071 | Ureteral stenosis | 1 | PIGT CL E G H | 51604 | 14938 | OMIM:615398 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | . | | | 12 | | |
HP:0006000 | HP:0000071 | Ureteral stenosis | 1 | PRTN3 CL E G H | 5657 | 9495 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | | | |
HP:0006000 | HP:0000071 | Ureteral stenosis | 1 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | 3 | | |
HP:0006000 | HP:0000071 | Ureteral stenosis | 1 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | . | | | 143 | | |
HP:0006000 | HP:0000071 | Ureteral stenosis | 1 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | | | | 60 | | |
HP:0006000 | HP:0000071 | Ureteral stenosis | 1 | SF3B2 CL E G H | 10992 | 10769 | OMIM:164210 | Hemifacial microsomia | | | | 2 | | |
HP:0006000 | HP:0000071 | Ureteral stenosis | 1 | SIX1 CL E G H | 6495 | 10887 | ORPHA:107 | BOR syndrome | | | | 50 | | |
HP:0006000 | HP:0000071 | Ureteral stenosis | 1 | SIX5 CL E G H | 147912 | 10891 | ORPHA:107 | BOR syndrome | | | | 10 | | |
HP:0006000 | HP:0000071 | Ureteral stenosis | 1 | SLC26A1 CL E G H | 10861 | 10993 | OMIM:167030 | Nephrolithiasis, calcium oxalate | | | | 24 | | |
HP:0006000 | HP:0000071 | Ureteral stenosis | 1 | SLC35A2 CL E G H | 7355 | 11022 | OMIM:300896 | Congenital disorder of glycosylation, type IIm | | | | 27 | | |
HP:0006000 | HP:0000071 | Ureteral stenosis | 1 | TBX18 CL E G H | 9096 | 11595 | OMIM:143400 | Congenital anomalies of kidney and urinary tract 2 | | | | 5 | | |
HP:0006000 | HP:0000071 | Ureteral stenosis | 1 | YY1 CL E G H | 7528 | 12856 | ORPHA:506358 | Gabriele-de Vries syndrome | | | | 7 | | |
HP:0006000 | HP:0000071 | Ureteral stenosis | 1 | YY1 CL E G H | 7528 | 12856 | OMIM:617557 | Gabriele-De vries syndrome | | | | 7 | | |
HP:0006000 | HP:0000071 | Ureteral stenosis | 1 | ZMYM2 CL E G H | 7750 | 12989 | OMIM:619522 | NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC | | | | | | |
HP:0006000 | HP:0008714 | Ureterovesical stenosis | 2 | CL E G H | | | | | | | | | | |
HP:0006000 | HP:0000074 | Ureteropelvic junction obstruction | 2 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 1 | | |
HP:0006000 | HP:0000074 | Ureteropelvic junction obstruction | 2 | BRF1 CL E G H | 2972 | 11551 | ORPHA:444072 | Cerebellar-facial-dental syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0006000 | HP:0000074 | Ureteropelvic junction obstruction | 2 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | HP:0040283 - Occasional | | | 159 | | |
HP:0006000 | HP:0000074 | Ureteropelvic junction obstruction | 2 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | . | | | 159 | | |
HP:0006000 | HP:0000074 | Ureteropelvic junction obstruction | 2 | DSTYK CL E G H | 25778 | 29043 | OMIM:610805 | Congenital anomalies of kidney and urinary tract, susceptibility to | . | | | 13 | | |
HP:0006000 | HP:0000074 | Ureteropelvic junction obstruction | 2 | EYA1 CL E G H | 2138 | 3519 | ORPHA:107 | BOR syndrome | HP:0040283 - Occasional | | | 135 | | |
HP:0006000 | HP:0000074 | Ureteropelvic junction obstruction | 2 | GNB1 CL E G H | 2782 | 4396 | OMIM:616973 | Mental retardation, autosomal dominant 42 | | | | 12 | | |
HP:0006000 | HP:0000074 | Ureteropelvic junction obstruction | 2 | HNF1B CL E G H | 6928 | 11630 | OMIM:137920 | Renal cysts and diabetes syndrome | . | | | 90 | | |
HP:0006000 | HP:0000074 | Ureteropelvic junction obstruction | 2 | HOXA13 CL E G H | 3209 | 5102 | OMIM:140000 | Hand-Foot-Genital syndrome | . | | | 11 | | |
HP:0006000 | HP:0000074 | Ureteropelvic junction obstruction | 2 | HOXA13 CL E G H | 3209 | 5102 | ORPHA:2438 | Hand-foot-genital syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0006000 | HP:0000074 | Ureteropelvic junction obstruction | 2 | KDM6A CL E G H | 7403 | 12637 | ORPHA:2322 | Kabuki syndrome | HP:0040283 - Occasional | | | 53 | | |
HP:0006000 | HP:0000074 | Ureteropelvic junction obstruction | 2 | KDM6A CL E G H | 7403 | 12637 | OMIM:147920 | Kabuki syndrome 1 | . | | | 53 | | |
HP:0006000 | HP:0000074 | Ureteropelvic junction obstruction | 2 | KMT2D CL E G H | 8085 | 7133 | ORPHA:2322 | Kabuki syndrome | HP:0040283 - Occasional | | | 660 | | |
HP:0006000 | HP:0000074 | Ureteropelvic junction obstruction | 2 | KMT2D CL E G H | 8085 | 7133 | OMIM:147920 | Kabuki syndrome 1 | . | | | 660 | | |
HP:0006000 | HP:0000074 | Ureteropelvic junction obstruction | 2 | MYOD1 CL E G H | 4654 | 7611 | OMIM:618975 | MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF | | | | | | |
HP:0006000 | HP:0000074 | Ureteropelvic junction obstruction | 2 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 544 | | |
HP:0006000 | HP:0000074 | Ureteropelvic junction obstruction | 2 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | . | | | 36 | | |
HP:0006000 | HP:0000074 | Ureteropelvic junction obstruction | 2 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 60 | | |
HP:0006000 | HP:0000074 | Ureteropelvic junction obstruction | 2 | SF3B2 CL E G H | 10992 | 10769 | OMIM:164210 | Hemifacial microsomia | . | | | 2 | | |
HP:0006000 | HP:0000074 | Ureteropelvic junction obstruction | 2 | SIX1 CL E G H | 6495 | 10887 | ORPHA:107 | BOR syndrome | HP:0040283 - Occasional | | | 50 | | |
HP:0006000 | HP:0000074 | Ureteropelvic junction obstruction | 2 | SIX5 CL E G H | 147912 | 10891 | ORPHA:107 | BOR syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0006000 | HP:0000074 | Ureteropelvic junction obstruction | 2 | SLC26A1 CL E G H | 10861 | 10993 | OMIM:167030 | Nephrolithiasis, calcium oxalate | . | | | 24 | | |
HP:0006000 | HP:0000074 | Ureteropelvic junction obstruction | 2 | SLC35A2 CL E G H | 7355 | 11022 | OMIM:300896 | Congenital disorder of glycosylation, type IIm | | | | 27 | | |
HP:0006000 | HP:0000074 | Ureteropelvic junction obstruction | 2 | TBX18 CL E G H | 9096 | 11595 | OMIM:143400 | Congenital anomalies of kidney and urinary tract 2 | . | | | 5 | | |
HP:0006000 | HP:0000074 | Ureteropelvic junction obstruction | 2 | YY1 CL E G H | 7528 | 12856 | OMIM:617557 | Gabriele-De vries syndrome | | | | 7 | | |
HP:0006000 | HP:0000074 | Ureteropelvic junction obstruction | 2 | YY1 CL E G H | 7528 | 12856 | ORPHA:506358 | Gabriele-de Vries syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0006000 | HP:0000074 | Ureteropelvic junction obstruction | 2 | ZMYM2 CL E G H | 7750 | 12989 | OMIM:619522 | NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC | | | | | | |